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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBM5_chr3_50083919_50124021 | 50112414 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02074.hp1 HG03927.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show |
7 | 35 | 0.2000 | -9 | c.145 others(26): Show |
RBM5 | ENSG00000003756.17 | transcript | ENST00000347869.8 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBM6_chr3_49935150_50082249 | 49941640 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00609.hp2 others(61): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(61): Show |
64 | 123 | 0.5203 | -9 | c.-67 others(26): Show |
RBM6 | ENSG00000004534.15 | transcript | ENST00000266022.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBM6_chr3_49935150_50082249 | 49968770 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp1 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0122 others(9): Show |
12 | 90 | 0.1333 | -9 | c.132 others(24): Show |
RBM6 | ENSG00000004534.15 | transcript | ENST00000266022.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBM6_chr3_49935150_50082249 | 50000370 | CACTGCCT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02559.hp2 others(12): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show |
15 | 216 | 0.0694 | -9 | c.155 others(26): Show |
RBM6 | ENSG00000004534.15 | transcript | ENST00000266022.9 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBM7_chr11_114395666_114415607 | 114402382 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01175.hp1 HG01261.hp1 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0037 a0001c0001t0004g0004 others(4): Show |
27 | 45 | 0.6000 | -9 | c.260 others(24): Show |
RBM7 | ENSG00000076053.12 | transcript | ENST00000375490.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RBMS1_chr2_160267151_160498807 | 160316845 | GGTGATCA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0004g0058 others(35): Show |
38 | 326 | 0.1166 | -9 | c.310 others(26): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 3/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160453089 | TATGATGA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 others(53): Show |
56 | 326 | 0.1718 | -9 | c.75+ others(26): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS3_chr3_29276071_30015386 | 29497973 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01515.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0019a0001c0001t0021others(10): Show | a0001c0001t0001g0046 a0001c0001t0019g0054 a0001c0001t0019g0055 others(11): Show |
14 | 28 | 0.5000 | -9 | 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 | 29526520 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01517.hp2 HG02622.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0007a0001c0001t0008a0001c0001t0021others(9): Show | a0001c0001t0007g0080 a0001c0001t0008g0082 a0001c0001t0021g0032 others(9): Show |
12 | 16 | 0.7500 | -9 | c.307 others(28): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29601541 | AATGATGA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0001t0014others(26): Show | a0001c0001t0003g0065 a0001c0001t0012g0004 a0001c0001t0012g0034 others(29): Show |
32 | 114 | 0.2807 | -9 | c.399 others(28): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29688564 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01934.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0015others(3): Show | a0001c0001t0003g0065 a0001c0001t0011g0033 a0001c0001t0015g0050 others(3): Show |
6 | 12 | 0.5000 | -9 | c.400 others(28): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29961984 | TTAATATA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0019a0001c0001t0043a0001c0001t0045others(7): Show | a0001c0001t0019g0054 a0001c0001t0019g0055 a0001c0001t0043g0101 others(8): Show |
11 | 114 | 0.0965 | -9 | c.109 others(30): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBP5_chr12_7118686_7133889 | 7126513 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(35): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0008 | a0001c0001t0001a0003c0003t0001a0006c0008t0001 | a0001c0001t0001g0094 a0003c0003t0001g0002 a0003c0003t0001g0038 others(7): Show |
38 | 140 | 0.2714 | -9 | c.252 others(26): Show |
RBP5 | ENSG00000139194.8 | transcript | ENST00000266560.8 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
RBP7_chr1_9992228_10021021 | 9999814 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(166): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(129): Show |
169 | 175 | 0.9657 | -9 | c.73+ others(24): Show |
RBP7 | ENSG00000162444.12 | transcript | ENST00000294435.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30395461 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0180 others(3): Show |
6 | 45 | 0.1333 | -9 | c.66+ others(26): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30514680 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02451.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0260 others(12): Show |
15 | 25 | 0.6000 | -9 | c.397 others(28): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30522324 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(2): Show | a0001c0001t0001g0222 a0001c0001t0002g0063 a0001c0001t0002g0064 others(11): Show |
14 | 297 | 0.0471 | -9 | c.397 others(28): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBSN_chr3_15065073_15104148 | 15078776 | ATACATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01361.hp1 HG01516.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0018 a0001c0001t0006g0044 a0001c0001t0006g0050 others(5): Show |
9 | 293 | 0.0307 | -9 | c.912 others(24): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
RBSN_chr3_15065073_15104148 | 15089469 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG02809.hp2 others(3): Show |
a0003 | a0003c0005a0003c0006 | a0003c0005t0007a0003c0006t0015 | a0003c0005t0007g0052 a0003c0005t0007g0264 a0003c0005t0007g0269 others(2): Show |
6 | 358 | 0.0168 | -9 | c.289 others(24): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 174024237 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(29): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0003c0008others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0015others(15): Show | a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 others(28): Show |
32 | 129 | 0.2481 | -9 | c.-23 others(20): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1881 | chr1 | TogoVar | |||||||
RCAN3_chr1_24497836_24546040 | 24505225 | CTTTTTTC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(76): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0033a0001c0001t0034others(12): Show | a0001c0001t0002g0026 a0001c0001t0002g0108 a0001c0001t0033g0015 others(67): Show |
79 | 323 | 0.2446 | -9 | c.-60 others(26): Show |
RCAN3 | ENSG00000117602.13 | transcript | ENST00000374395.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCAN3_chr1_24497836_24546040 | 24530424 | TAAGCAAA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0049 a0001c0001t0010g0050 a0001c0001t0010g0076 others(4): Show |
7 | 330 | 0.0212 | -9 | c.196 others(24): Show |
RCAN3 | ENSG00000117602.13 | transcript | ENST00000374395.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCBTB1_chr13_49526946_49590558 | 49585565 | GCGCCGGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(74): Show |
78 | 416 | 0.1875 | -9 | c.-25 others(18): Show |
RCBTB1 | ENSG00000136144.12 | transcript | ENST00000378302.7 | protein_coding | 8 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48520906 | ATATATTC others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 others(14): Show |
19 | 318 | 0.0597 | -9 | c.42+ others(22): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28503465 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01123.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0002 | a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 others(20): Show |
23 | 164 | 0.1402 | -9 | c.-28 others(20): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 2577 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543240 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG03471.hp1 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 |
3 | 231 | 0.0130 | -9 | c.*52 others(20): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4252 | chr1 | TogoVar | |||||||
RCCD1_chr15_90949884_90968125 | 90964822 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(114): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0009 a0001c0001t0002g0002 a0001c0001t0002g0005 others(33): Show |
117 | 131 | 0.8931 | -9 | c.*30 others(20): Show |
RCCD1 | ENSG00000166965.13 | transcript | ENST00000394258.7 | protein_coding | 1698 | chr15 | TogoVar | |||||||
RCHY1_chr4_75474033_75519403 | 75508089 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG03130.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 others(2): Show |
5 | 404 | 0.0124 | -9 | c.326 others(24): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102632665 | TTTCCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00609.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0085 a0001c0001t0001g0088 others(6): Show |
9 | 290 | 0.0310 | -9 | c.361 others(28): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102653974 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01358.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0162 a0001c0001t0002g0200 a0001c0001t0002g0221 others(5): Show |
8 | 290 | 0.0276 | -9 | c.362 others(28): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
RCOR3_chr1_211254366_211321385 | 211308664 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0024 a0001c0001t0004g0017 a0001c0001t0004g0018 others(4): Show |
9 | 322 | 0.0280 | -9 | c.107 others(28): Show |
RCOR3 | ENSG00000117625.14 | transcript | ENST00000419091.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167630721 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0328 a0001c0001t0005g0332 a0001c0001t0008g0329 others(3): Show |
6 | 21 | 0.2857 | -9 | c.6+3 others(20): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167705050 | CAGCTAAT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(76): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0007 others(76): Show |
79 | 348 | 0.2270 | -9 | c.*35 others(18): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 7/7 | 359 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RDX_chr11_110224441_110301614 | 110299073 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(113): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 others(111): Show |
116 | 374 | 0.3102 | -9 | c.-26 others(20): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 2460 | chr11 | TogoVar | |||||||
RECK_chr9_36031913_36129455 | 36092542 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02280.hp2 HG02559.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0226 a0001c0001t0001g0281 a0001c0001t0001g0282 others(41): Show |
44 | 192 | 0.2292 | -9 | c.108 others(28): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36099224 | TCAACAAC others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01074.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0204 others(23): Show |
26 | 146 | 0.1781 | -9 | c.108 others(28): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
REELD1_chr4_146209538_146237267 | 146227169 | CTATAACA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(12): Show |
a0002a0007a0009 | a0002c0002a0007c0009a0009c0010 | a0002c0002t0010a0007c0009t0010a0007c0009t0014others(5): Show | a0002c0002t0010g0065 a0007c0009t0010g0017 a0007c0009t0010g0067 others(7): Show |
15 | 432 | 0.0347 | -9 | c.596 others(26): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86226075 | TCACCACC others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01069.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0017others(5): Show | a0001c0001t0004g0100 a0001c0001t0004g0143 a0001c0001t0004g0144 others(33): Show |
36 | 137 | 0.2628 | -9 | c.631 others(26): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86266655 | AAAATAAA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0026 | a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 others(1): Show |
4 | 318 | 0.0126 | -9 | c.106 others(26): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
REEP2_chr5_138434057_138451965 | 138451603 | CCTCAATG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(146): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0070 others(32): Show |
149 | 430 | 0.3465 | -9 | c.*58 others(20): Show |
REEP2 | ENSG00000132563.17 | transcript | ENST00000378339.7 | protein_coding | 4639 | chr5 | TogoVar | |||||||
REEP5_chr5_112871385_112927227 | 112894114 | GGTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0027 | a0001c0001t0010g0006 a0001c0001t0010g0025 a0001c0001t0010g0026 others(2): Show |
6 | 338 | 0.0178 | -9 | c.352 others(26): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37605839 | GAAAGAAG others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG03490.hp2 HG04228.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0004a0004c0008t0004 | a0001c0001t0004g0122 a0001c0001t0004g0194 a0004c0008t0004g0267 |
3 | 322 | 0.0093 | -9 | c.*74 others(20): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 4794 | chr4 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37612330 | AAAAAAAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0043others(2): Show | a0001c0001t0010g0035 a0001c0001t0010g0134 a0001c0001t0010g0140 others(8): Show |
11 | 322 | 0.0342 | -9 | c.*10 others(20): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 7/7 | 19049 | chr4 | TogoVar | ||||||
RELL1_chr4_37605634_37691376 | 37633408 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01243.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0303 a0001c0001t0002g0033 a0001c0001t0002g0036 others(27): Show |
31 | 32 | 0.9688 | -9 | c.680 others(26): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103491886 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02965.hp2 NA18522.hp1 |
a0022a0027 | a0022c0043a0027c0069 | a0022c0043t0004a0027c0069t0001 | a0022c0043t0004g0161 a0027c0069t0001g0125 |
2 | 182 | 0.0110 | -9 | c.944 others(24): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 58/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103677405 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00738.hp1 others(41): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(31): Show | a0001c0001t0001g0066 a0001c0001t0002g0031 a0001c0002t0001g0083 others(41): Show |
44 | 111 | 0.3964 | -9 | c.128 others(28): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 11/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103796894 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02922.hp1 NA18966.hp2 NA19009.hp2 others(2): Show |
a0001a0002 | a0001c0040a0001c0064a0002c0009others(1): Show | a0001c0040t0001a0001c0064t0002a0002c0009t0001others(1): Show | a0001c0040t0001g0061 a0001c0064t0002g0009 a0002c0009t0001g0056 others(2): Show |
5 | 131 | 0.0382 | -9 | c.474 others(28): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103907315 | CTGAGGCA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp1 HG01192.hp1 others(33): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(28): Show | a0001c0001t0001g0073 a0001c0001t0004g0160 a0001c0002t0001g0083 others(33): Show |
36 | 182 | 0.1978 | -9 | c.337 others(26): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103977310 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02809.hp2 NA18966.hp1 NA19009.hp1 others(2): Show |
a0001a0006a0030 | a0001c0002a0001c0003a0006c0013others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0003t0001others(2): Show | a0001c0002t0002g0005 a0001c0002t0005g0183 a0001c0003t0001g0106 others(2): Show |
5 | 39 | 0.1282 | -9 | c.226 others(28): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RENBP_chrX_153930269_153949643 | 153938787 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01243.hp1 others(14): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 others(10): Show |
17 | 295 | 0.0576 | -9 | c.107 others(28): Show |
RENBP | ENSG00000102032.13 | transcript | ENST00000393700.8 | protein_coding | 9/10 | chrX | TogoVar |