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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBMS3_chr3_29276071_30015386 | 29527181 | TAAAAAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01169.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0002g0057 a0001c0001t0007g0080 a0001c0001t0011g0033 others(6): Show |
9 | 52 | 0.1731 | -7 | c.307 others(26): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29688564 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(22): Show | a0001c0001t0002g0028 a0001c0001t0002g0057 a0001c0001t0008g0082 others(23): Show |
26 | 32 | 0.8125 | -7 | c.400 others(26): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29894768 | AAACAATT | A | intron_variant | MODIFIER | HG01891.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0085 | a0001c0001t0033g0042 a0001c0001t0085g0014 |
2 | 114 | 0.0175 | -7 | c.792 others(24): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
RBMS3_chr3_29276071_30015386 | 29897236 | AATCTCCT | A | intron_variant | MODIFIER | HG01981.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0040 | a0001c0001t0035g0105 a0001c0001t0040g0102 |
2 | 114 | 0.0175 | -7 | c.792 others(22): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29959283 | GCTTTTGA | G | intron_variant | MODIFIER | HG01934.hp1 HG02055.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0048a0001c0001t0083 | a0001c0001t0015g0027 a0001c0001t0015g0050 a0001c0001t0048g0084 others(1): Show |
4 | 114 | 0.0351 | -7 | c.109 others(28): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29990460 | CAAAAAAA | C | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01169.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(10): Show | a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0008 others(12): Show |
15 | 50 | 0.3000 | -7 | c.118 others(24): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMXL1_chr1_88974456_88997629 | 88984204 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01261.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0092 a0001c0001t0001g0211 a0001c0001t0003g0045 others(14): Show |
30 | 239 | 0.1255 | -7 | c.-24 others(24): Show |
RBMXL1 | ENSG00000213516.10 | transcript | ENST00000652648.1 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
RBP2_chr3_139447884_139481516 | 139460947 | CATGAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(4): Show |
7 | 264 | 0.0265 | -7 | c.252 others(24): Show |
RBP2 | ENSG00000114113.6 | transcript | ENST00000232217.6 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
RBP5_chr12_7118686_7133889 | 7126513 | GTGTGTGT | G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00741.hp1 others(50): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0003c0003t0001 | a0001c0001t0002g0003 a0001c0001t0002g0024 a0001c0001t0002g0042 others(12): Show |
53 | 155 | 0.3419 | -7 | c.252 others(24): Show |
RBP5 | ENSG00000139194.8 | transcript | ENST00000266560.8 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
RBPJL_chr20_45301840_45322824 | 45315960 | AAAGAAAG | A | intron_variant | MODIFIER | HG02818.hp1 NA19064.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0010a0002c0004t0004 | a0001c0001t0001g0040 a0001c0001t0010g0079 a0002c0004t0004g0070 |
3 | 436 | 0.0069 | -7 | c.102 others(24): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RBPJ_chr4_26316014_26439923 | 26348693 | ATTTTTGT | A | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0023 | a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0003g0022 others(1): Show |
4 | 314 | 0.0127 | -7 | c.20+ others(24): Show |
RBPJ | ENSG00000168214.22 | transcript | ENST00000355476.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RBPJ_chr4_26316014_26439923 | 26384878 | GCCTCTCC | G | intron_variant | MODIFIER | HG01192.hp2 HG02895.hp1 HG02897.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 others(7): Show |
11 | 309 | 0.0356 | -7 | c.21- others(22): Show |
RBPJ | ENSG00000168214.22 | transcript | ENST00000355476.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RBPMS2_chr15_64734891_64780589 | 64744798 | GTTTTTTT | G | intron_variant | MODIFIER | HG01168.hp2 HG01934.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0026 a0001c0001t0001g0204 a0001c0001t0001g0205 others(6): Show |
10 | 49 | 0.2041 | -7 | c.568 others(24): Show |
RBPMS2 | ENSG00000166831.9 | transcript | ENST00000300069.5 | protein_coding | 6/7 | chr15 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30421954 | CAAAAAAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(246): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(245): Show |
249 | 302 | 0.8245 | -7 | c.66+ others(24): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30486364 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00735.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0027 others(46): Show |
49 | 213 | 0.2300 | -7 | c.246 others(24): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30549826 | CTTTTCTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02615.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(9): Show |
12 | 300 | 0.0400 | -7 | c.528 others(24): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBSN_chr3_15065073_15104148 | 15078776 | ATACATAT | A | intron_variant | MODIFIER | HG01891.hp1 HG02135.hp2 HG02258.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0004t0003others(1): Show | a0001c0001t0001g0155 a0001c0001t0006g0018 a0001c0001t0006g0031 others(4): Show |
8 | 292 | 0.0274 | -7 | c.912 others(22): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
RBSN_chr3_15065073_15104148 | 15091210 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG02055.hp2 HG02809.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0004a0003c0005t0007 | a0001c0001t0001g0074 a0002c0002t0004g0057 a0002c0002t0004g0261 others(3): Show |
7 | 15 | 0.4667 | -7 | c.149 others(22): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 4/13 | chr3 | TogoVar | |||||||
RBSN_chr3_15065073_15104148 | 15098478 | ATAAATAT | A | intron_variant | MODIFIER | HG01934.hp2 HG02145.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0068 a0001c0001t0003g0107 a0001c0001t0006g0031 |
4 | 154 | 0.0260 | -7 | c.-50 others(24): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 174017783 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(50): Show |
a0001a0010 | a0001c0001a0001c0006a0010c0012 | a0001c0001t0002a0001c0001t0013a0001c0001t0020others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0230 others(47): Show |
53 | 111 | 0.4775 | -7 | c.-15 others(26): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122870406 | AAACAAAC | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(74): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0003 | a0001c0002t0002a0001c0002t0008a0001c0002t0019others(4): Show | a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0051 others(72): Show |
77 | 318 | 0.2421 | -7 | c.132 others(26): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122903109 | TTAAATTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(24): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 others(22): Show |
27 | 318 | 0.0849 | -7 | c.-68 others(24): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 1/20 | chr9 | TogoVar | |||||||
RCAN1_chr21_34511442_34620113 | 34601817 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0151 a0001c0001t0001g0295 others(35): Show |
40 | 251 | 0.1594 | -7 | c.252 others(26): Show |
RCAN1 | ENSG00000159200.18 | transcript | ENST00000313806.9 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46343375 | ATTTTTTT | A | intron_variant | MODIFIER | HG00741.hp1 HG02258.hp2 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0003g0069 others(7): Show |
10 | 97 | 0.1031 | -7 | c.226 others(26): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN3_chr1_24497836_24546040 | 24528261 | AAAAAAAG | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0010a0001c0001t0011others(6): Show | a0001c0001t0007g0006 a0001c0001t0007g0013 a0001c0001t0007g0034 others(22): Show |
28 | 330 | 0.0848 | -7 | c.196 others(24): Show |
RCAN3 | ENSG00000117602.13 | transcript | ENST00000374395.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28543240 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG01515.hp1 HG03704.hp1 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0010 |
3 | 231 | 0.0130 | -7 | c.*52 others(18): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4252 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431356 | AAAAATAT | A | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01243.hp2 others(5): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0004a0002c0003t0006a0002c0003t0015others(1): Show | a0002c0003t0004g0284 a0002c0003t0006g0032 a0002c0003t0006g0287 others(4): Show |
8 | 388 | 0.0206 | -7 | c.286 others(24): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCCD1_chr15_90949884_90968125 | 90964822 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01175.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0025 others(8): Show |
24 | 38 | 0.6316 | -7 | c.*30 others(18): Show |
RCCD1 | ENSG00000166965.13 | transcript | ENST00000394258.7 | protein_coding | 1698 | chr15 | TogoVar | |||||||
RCCD1_chr15_90949884_90968125 | 90965274 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG02559.hp2 HG02683.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0006 | a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0006g0094 others(1): Show |
6 | 72 | 0.0833 | -7 | c.*35 others(18): Show |
RCCD1 | ENSG00000166965.13 | transcript | ENST00000394258.7 | protein_coding | 2150 | chr15 | TogoVar | |||||||
RCL1_chr9_4787944_4866066 | 4789826 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01099.hp1 HG02015.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0029others(1): Show | a0001c0001t0003g0025 a0001c0001t0003g0061 a0001c0001t0003g0062 others(7): Show |
10 | 280 | 0.0357 | -7 | c.-32 others(18): Show |
RCL1 | ENSG00000120158.12 | transcript | ENST00000381750.9 | protein_coding | 3117 | chr9 | TogoVar | |||||||
RCL1_chr9_4787944_4866066 | 4857931 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0174 a0001c0001t0001g0175 others(4): Show |
7 | 51 | 0.1373 | -7 | c.972 others(24): Show |
RCL1 | ENSG00000120158.12 | transcript | ENST00000381750.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RCN3_chr19_49523003_49548633 | 49546062 | CTATTTTT | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG02055.hp2 others(6): Show |
a0002a0006 | a0002c0002a0002c0004a0006c0014 | a0002c0002t0002a0002c0004t0002a0006c0014t0010 | a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0068 others(5): Show |
9 | 355 | 0.0254 | -7 | c.*28 others(18): Show |
RCN3 | ENSG00000142552.8 | transcript | ENST00000270645.8 | protein_coding | 2430 | chr19 | TogoVar | |||||||
RCN3_chr19_49523003_49548633 | 49546064 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00735.hp2 others(33): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0001c0001t0006a0007c0011t0001 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(21): Show |
36 | 253 | 0.1423 | -7 | c.*28 others(18): Show |
RCN3 | ENSG00000142552.8 | transcript | ENST00000270645.8 | protein_coding | 2432 | chr19 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102623380 | TTTATTTA | T | intron_variant | MODIFIER | HG00733.hp1 HG01175.hp2 HG01257.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0008a0001c0001t0012others(6): Show | a0001c0001t0006g0270 a0001c0001t0006g0274 a0001c0001t0008g0263 others(16): Show |
19 | 289 | 0.0657 | -7 | c.361 others(26): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR3_chr1_211254366_211321385 | 211291714 | ACATAGGC | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(56): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0019a0001c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(52): Show |
59 | 322 | 0.1832 | -7 | c.939 others(24): Show |
RCOR3 | ENSG00000117625.14 | transcript | ENST00000419091.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RD3L_chr14_103935426_103947529 | 103938433 | TATATATA | T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG03139.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 4 | 376 | 0.0106 | -7 | c.*23 others(18): Show |
RD3L | ENSG00000227729.5 | transcript | ENST00000557640.2 | protein_coding | 1992 | chr14 | TogoVar | |||||||
RD3L_chr14_103935426_103947529 | 103939676 | GGTTTTTT | G | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG04204.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0002 | a0001c0001t0007g0015 a0002c0002t0002g0003 a0002c0002t0002g0017 |
5 | 238 | 0.0210 | -7 | c.*11 others(18): Show |
RD3L | ENSG00000227729.5 | transcript | ENST00000557640.2 | protein_coding | 749 | chr14 | TogoVar | |||||||
RDH10_chr8_73289602_73330281 | 73320475 | GTTTTTTT | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0072 a0001c0001t0003g0146 a0001c0001t0003g0147 others(2): Show |
6 | 232 | 0.0259 | -7 | c.625 others(22): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RDH11_chr14_67671800_67700764 | 67698038 | AGGACTGG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0010 others(22): Show |
56 | 436 | 0.1284 | -7 | c.-23 others(18): Show |
RDH11 | ENSG00000072042.13 | transcript | ENST00000381346.9 | protein_coding | 2275 | chr14 | TogoVar | |||||||
RDH12_chr14_67696886_67739451 | 67698038 | AGGACTGG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(53): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0297 a0001c0001t0002g0307 a0001c0001t0002g0308 others(34): Show |
56 | 432 | 0.1296 | -7 | c.-41 others(18): Show |
RDH12 | ENSG00000139988.10 | transcript | ENST00000551171.6 | protein_coding | 3847 | chr14 | TogoVar | |||||||
RDX_chr11_110224441_110301614 | 110299427 | ATCCTCAC | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(154): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(148): Show |
157 | 374 | 0.4198 | -7 | c.-30 others(18): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 2814 | chr11 | TogoVar | |||||||
RECK_chr9_36031913_36129455 | 36092542 | ATTTTTTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0003 a0001c0004t0001g0375 a0001c0004t0001g0376 others(3): Show |
7 | 155 | 0.0452 | -7 | c.108 others(26): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
REEP3_chr10_63516401_63630128 | 63546989 | TCAGCTCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0249 a0001c0001t0002g0256 a0001c0001t0004g0006 others(29): Show |
33 | 282 | 0.1170 | -7 | c.33- others(24): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REEP3_chr10_63516401_63630128 | 63563055 | TAGAAGGC | T | intron_variant | MODIFIER | HG02257.hp2 HG03540.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0065a0001c0001t0069a0001c0001t0070 | a0001c0001t0065g0201 a0001c0001t0069g0200 a0001c0001t0070g0204 |
3 | 282 | 0.0106 | -7 | c.33- others(22): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
REEP5_chr5_112871385_112927227 | 112893094 | TAAAAAAA | T | intron_variant | MODIFIER | HG01358.hp2 HG01361.hp2 HG01516.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0005 | a0001c0001t0005g0248 a0001c0001t0005g0253 a0001c0001t0005g0254 others(5): Show |
8 | 121 | 0.0661 | -7 | c.352 others(24): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
REEP5_chr5_112871385_112927227 | 112926236 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00642.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0269 a0001c0001t0003g0002 a0001c0001t0003g0005 others(28): Show |
37 | 193 | 0.1917 | -7 | c.-40 others(18): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 4010 | chr5 | TogoVar | |||||||
RELA_chr11_65648601_65667916 | 65661261 | AAGAGATC | A | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 |
3 | 402 | 0.0075 | -7 | c.335 others(22): Show |
RELA | ENSG00000173039.20 | transcript | ENST00000406246.8 | protein_coding | 4/10 | chr11 | TogoVar | |||||||
RELCH_chr18_62182255_62315249 | 62186041 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(69): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0128 others(65): Show |
72 | 152 | 0.4737 | -7 | c.-14 others(18): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 1213 | chr18 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37606041 | AGAAAAAG | A | downstream_gene_variant | MODIFIER | NA18942.hp1 NA18995.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0064 | a0001c0001t0030g0096 a0001c0001t0030g0116 a0001c0001t0064g0163 |
3 | 322 | 0.0093 | -7 | c.*72 others(18): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 4592 | chr4 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37633408 | CAAAAAAA | C | intron_variant | MODIFIER | HG01175.hp1 HG01515.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0272 others(10): Show |
13 | 14 | 0.9286 | -7 | c.680 others(24): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 5/6 | chr4 | TogoVar |