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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBM17_chr10_6084034_6122447 | 6085747 | AGAAAGAA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0237 | 1 | 434 | 0.0023 | -40 | c.-34 others(51): Show |
RBM17 | ENSG00000134453.16 | transcript | ENST00000379888.9 | protein_coding | 3286 | chr10 | TogoVar | ||||||
RBM20_chr10_110639336_110844468 | 110767504 | GGGGCGGA others(33): Show |
G | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0231a0002c0002t0001g0200 | 2 | 268 | 0.0075 | -40 | c.192 others(59): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM26_chr13_79313868_79411255 | 79373667 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp1 others(52): Show |
a0001 | a0001c0002a0001c0003a0001c0009 | a0001c0002t0001a0001c0002t0003a0001c0002t0008others(6): Show | a0001c0002t0001g0014a0001c0002t0001g0181a0001c0002t0001g0182others(47): Show | 55 | 328 | 0.1677 | -40 | c.328 others(57): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | ||||||
RBM26_chr13_79313868_79411255 | 79392203 | TATACAAT others(33): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0157 | 1 | 328 | 0.0031 | -40 | c.72- others(57): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 1/21 | chr13 | TogoVar | ||||||
RBM28_chr7_128292685_128348908 | 128346634 | CTCTCTCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 382 | 0.0026 | -40 | c.-28 others(51): Show |
RBM28 | ENSG00000106344.8 | transcript | ENST00000223073.6 | protein_coding | 2727 | chr7 | TogoVar | ||||||
RBM28_chr7_128292685_128348908 | 128346636 | CTCTCTCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 2 | 382 | 0.0052 | -40 | c.-28 others(51): Show |
RBM28 | ENSG00000106344.8 | transcript | ENST00000223073.6 | protein_coding | 2729 | chr7 | TogoVar | ||||||
RBM28_chr7_128292685_128348908 | 128346640 | CTCTCTCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 382 | 0.0026 | -40 | c.-28 others(51): Show |
RBM28 | ENSG00000106344.8 | transcript | ENST00000223073.6 | protein_coding | 2733 | chr7 | TogoVar | ||||||
RBM34_chr1_235126183_235166250 | 235155828 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 388 | 0.0026 | -40 | c.366 others(55): Show |
RBM34 | ENSG00000188739.15 | transcript | ENST00000408888.8 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
RBMS1_chr2_160267151_160498807 | 160439259 | GGGGTGGC others(33): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0011 | 1 | 328 | 0.0031 | -40 | c.75+ others(57): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
RBMS1_chr2_160267151_160498807 | 160449033 | AGAAGTGA others(33): Show |
A | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 328 | 0.0031 | -40 | c.75+ others(57): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29828977 | ACTTTCTT others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01361.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0001g0042a0001c0001t0005g0009a0001c0001t0012g0004others(8): Show | 11 | 116 | 0.0948 | -40 | c.638 others(59): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RC3H2_chr9_122839556_122910359 | 122852250 | CCTCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02723.hp1 |
a0001 | a0001c0006 | a0001c0006t0015a0001c0006t0021 | a0001c0006t0015g0010a0001c0006t0021g0299 | 2 | 320 | 0.0063 | -40 | c.311 others(57): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 18/20 | chr9 | TogoVar | ||||||
RC3H2_chr9_122839556_122910359 | 122867768 | GGAGGAGA others(33): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0184a0001c0001t0001g0201a0001c0001t0001g0202others(10): Show | 13 | 320 | 0.0406 | -40 | c.132 others(59): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102616210 | GTGTGTGT others(33): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0291a0001c0001t0013g0292 | 2 | 292 | 0.0069 | -40 | c.361 others(59): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
REG1A_chr2_79115488_79128409 | 79119187 | GATATATA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02630.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0003g0009 | 4 | 452 | 0.0089 | -40 | c.-13 others(51): Show |
REG1A | ENSG00000115386.6 | transcript | ENST00000233735.2 | protein_coding | 1300 | chr2 | TogoVar | ||||||
RELL1_chr4_37605634_37691376 | 37668753 | TCCCATCT others(33): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp2 others(31): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0249others(30): Show | 34 | 324 | 0.1049 | -40 | c.88+ others(57): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103773100 | TTTTCTTT others(33): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00738.hp1 others(36): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(32): Show | a0001c0001t0001g0073a0001c0001t0002g0010a0001c0002t0001g0094others(36): Show | 39 | 184 | 0.2120 | -40 | c.544 others(57): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | ||||||
RER1_chr1_2386841_2410436 | 2398391 | TTTTATTT others(33): Show |
T | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 354 | 0.0028 | -40 | c.187 others(56): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8500822 | GCCCTGTC others(33): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 HG02976.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0074a0003c0008t0001g0006a0003c0008t0001g0031others(2): Show | 5 | 204 | 0.0245 | -40 | c.880 others(57): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
RERG_chr12_15102783_15226417 | 15161138 | AAAAGAAA others(33): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 300 | 0.0033 | -40 | c.62- others(57): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
RETREG1_chr5_16468053_16621997 | 16535584 | AAAGTGGG others(33): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02615.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0005a0002c0003t0016 | a0001c0001t0001g0073a0001c0001t0001g0235a0002c0003t0005g0168others(1): Show | 4 | 294 | 0.0136 | -40 | c.458 others(59): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
RETREG1_chr5_16468053_16621997 | 16535624 | GAAGTGGG others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(88): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(88): Show | 91 | 294 | 0.3095 | -40 | c.458 others(59): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
RETREG1_chr5_16468053_16621997 | 16535744 | AAAGTGGG others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp1 others(91): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0014others(91): Show | 94 | 294 | 0.3197 | -40 | c.458 others(59): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111303671 | CTTTTTTT others(33): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 NA18940.hp2 |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0008c0011t0001 | a0002c0002t0001g0202a0008c0011t0001g0155a0008c0011t0001g0209 | 3 | 288 | 0.0104 | -40 | c.925 others(59): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111422577 | CACATATA others(33): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01361.hp2 others(1): Show |
a0002 | a0002c0002a0002c0009a0002c0024 | a0002c0002t0001a0002c0009t0003a0002c0024t0003 | a0002c0002t0001g0160a0002c0009t0003g0252a0002c0009t0003g0253others(1): Show | 4 | 288 | 0.0139 | -40 | c.140 others(57): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20829744 | GCCTTTCG others(33): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 372 | 0.0027 | -40 | c.115 others(59): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RFC2_chr7_74226502_74259399 | 74254813 | TGCCCACT others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 326 | 0.0031 | -40 | c.-47 others(49): Show |
RFC2 | ENSG00000049541.11 | transcript | ENST00000055077.8 | protein_coding | 415 | chr7 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124300737 | TGGATGGA others(33): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 388 | 0.0026 | -40 | c.207 others(57): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX3_chr9_3213297_3531001 | 3415061 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00621.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0054a0001c0001t0001g0060a0001c0001t0001g0087others(57): Show | 60 | 196 | 0.3061 | -40 | c.-8- others(57): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
RGL1_chr1_183800120_183933532 | 183870281 | GTGTCTTC others(33): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03492.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0033a0001c0001t0001g0104a0001c0001t0002g0017others(1): Show | 4 | 296 | 0.0135 | -40 | c.425 others(57): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47074220 | AAAGAAAG others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 304 | 0.0033 | -40 | c.-51 others(51): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4222 | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074228 | AAAGAAAG others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0208 | 2 | 304 | 0.0066 | -40 | c.-51 others(51): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4214 | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074232 | AAAGAAAG others(33): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 304 | 0.0033 | -40 | c.-51 others(51): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4210 | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074236 | AAAGAAAG others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01952.hp1 HG04204.hp1 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0039a0005c0010t0001g0049 | 2 | 304 | 0.0066 | -40 | c.-51 others(51): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4206 | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074244 | AAAGAAAG others(33): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 304 | 0.0033 | -40 | c.-51 others(51): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4198 | chrX | TogoVar | ||||||
RGS6_chr14_71927429_72571530 | 72053059 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02895.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0010a0001c0001t0020a0001c0001t0022others(2): Show | a0001c0001t0010g0075a0001c0001t0020g0120a0001c0001t0022g0080others(2): Show | 5 | 130 | 0.0385 | -40 | c.84+ others(57): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RHCE_chr1_25357249_25425825 | 25379465 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0305 | 1 | 334 | 0.0030 | -40 | c.107 others(59): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 7/9 | chr1 | TogoVar | ||||||
RHCG_chr15_89466407_89501583 | 89475036 | TCCTTCCT others(33): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 360 | 0.0028 | -40 | c.131 others(59): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 9/10 | chr15 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206064490 | GCCTCTGC others(33): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 334 | 0.0030 | -40 | c.-97 others(59): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706452 | CACACACA others(33): Show |
C | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 428 | 0.0023 | -40 | c.-77 others(55): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706454 | CACACACA others(33): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02004.hp1 HG02083.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0037a0001c0001t0001g0038others(6): Show | 23 | 428 | 0.0537 | -40 | c.-77 others(55): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706456 | CACACACA others(33): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp1 HG02071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0080 | 4 | 428 | 0.0094 | -40 | c.-77 others(55): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOQ_chr2_46537490_46589688 | 46546472 | ATGTGTAT others(33): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00741.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0163others(15): Show | 18 | 332 | 0.0542 | -40 | c.201 others(57): Show |
RHOQ | ENSG00000119729.12 | transcript | ENST00000238738.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RHO_chr3_129523639_129540344 | 129537327 | CTCTTTCT others(33): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0069 | 1 | 404 | 0.0025 | -40 | c.*36 others(51): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 1984 | chr3 | TogoVar | ||||||
RHPN1_chr8_143363876_143389221 | 143373166 | GCAGGGGC others(33): Show |
G | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 426 | 0.0024 | -40 | c.61- others(55): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130440058 | ATCCCCGG others(33): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0015 | a0015c0047 | a0015c0047t0001 | a0015c0047t0001g0013 | 1 | 180 | 0.0056 | -40 | c.150 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 11/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130535728 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02615.hp2 others(3): Show |
a0001a0002a0004 | a0001c0002a0001c0019a0002c0009others(3): Show | a0001c0002t0001a0001c0019t0001a0002c0009t0001others(3): Show | a0001c0002t0001g0054a0001c0019t0001g0089a0002c0009t0001g0174others(3): Show | 6 | 180 | 0.0333 | -40 | c.-21 others(61): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP3B_chr22_21378751_21394478 | 21379157 | AGTTTTGA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0000 | 1 | 118 | 0.0085 | -40 | c.-47 others(51): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 4593 | chr22 | TogoVar | ||||||
RIMBP3B_chr22_21378751_21394478 | 21392774 | AAAGGAAG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp2 others(59): Show |
a0002a0003a0004others(36): Show | a0002c0001a0003c0052a0003c0053others(43): Show | a0002c0001t0003a0002c0001t0006a0002c0001t0009others(46): Show | a0002c0001t0003g0000a0002c0001t0006g0000a0002c0001t0009g0000others(46): Show | 62 | 118 | 0.5254 | -40 | c.*39 others(51): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 3297 | chr22 | TogoVar | ||||||
RIMKLB_chr12_8692991_8782191 | 8743492 | GGTACTTA others(33): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02055.hp2 others(9): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0006a0001c0002t0017a0001c0002t0019others(1): Show | a0001c0002t0006g0245a0001c0002t0006g0246a0001c0002t0006g0251others(9): Show | 12 | 294 | 0.0408 | -40 | c.176 others(57): Show |
RIMKLB | ENSG00000166532.16 | transcript | ENST00000535829.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |