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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBBP8_chr18_22928328_23031486 | 23022602 | A | AAAAATAA others(32): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 330 | 0.0030 | 39 | c.259 others(56): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RBBP8_chr18_22928328_23031486 | 23022603 | A | AAAATAAA others(32): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294a0001c0001t0001g0295a0001c0001t0001g0296others(1): Show | 4 | 330 | 0.0121 | 39 | c.259 others(56): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6637225 | C | CAAATATA others(32): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19240.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0025 | a0001c0001t0003g0050a0001c0001t0011g0035a0001c0001t0025g0048 | 3 | 68 | 0.0441 | 39 | c.-63 others(58): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7186994 | C | CACACACA others(32): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0029 | 1 | 68 | 0.0147 | 39 | c.27+ others(58): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7217059 | C | CCCTCCCT others(32): Show |
intron_variant | MODIFIER | NA19240.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011 | a0001c0001t0010g0037a0001c0001t0011g0035 | 2 | 68 | 0.0294 | 39 | c.27+ others(58): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79170140 | G | GGAAGGAA others(32): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0153 | 1 | 154 | 0.0065 | 39 | c.-33 others(58): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79611130 | T | TCTCTCTC others(32): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG02155.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017a0001c0002t0001g0045 | 2 | 154 | 0.0130 | 39 | c.-62 others(48): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 80 | chr17 | TogoVar | ||||||
RBL1_chr20_36991349_37100997 | 37002336 | G | GTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0304 | 1 | 354 | 0.0028 | 39 | c.303 others(58): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 21/21 | chr20 | TogoVar | ||||||
RBM42_chr19_35624036_35642685 | 35638908 | C | CAAAAAAA others(32): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 39 | c.*13 others(50): Show |
RBM42 | ENSG00000126254.12 | transcript | ENST00000262633.9 | protein_coding | 1224 | chr19 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40437089 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0058 | a0001c0001t0001g0021a0002c0002t0058g0117 | 2 | 278 | 0.0072 | 39 | c.112 others(56): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40437089 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0038 | a0001c0001t0008g0139a0001c0001t0038g0067 | 2 | 278 | 0.0072 | 39 | c.112 others(56): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40498054 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0130 | a0002c0002t0130g0266 | 1 | 278 | 0.0036 | 39 | c.-15 others(60): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40573807 | A | AAAGAAAG others(32): Show |
intron_variant | MODIFIER | HG01993.hp1 NA19000.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0059 | a0001c0001t0001g0112a0002c0002t0059g0152 | 2 | 278 | 0.0072 | 39 | c.-23 others(60): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RBPJL_chr20_45301840_45322824 | 45305805 | C | CTTTTTTT others(32): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01243.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006 | 5 | 446 | 0.0112 | 39 | c.-11 others(50): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 1034 | chr20 | TogoVar | ||||||
RBPJ_chr4_26316014_26439923 | 26375253 | C | CCCTCCCG others(32): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 316 | 0.0032 | 39 | c.21- others(56): Show |
RBPJ | ENSG00000168214.22 | transcript | ENST00000355476.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RCBTB2_chr13_48483963_48538080 | 48527354 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 | 1 | 320 | 0.0031 | 39 | c.-21 others(58): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 1/14 | chr13 | TogoVar | ||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAAAAT others(32): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18747.hp2 NA18950.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225a0001c0001t0003g0226a0001c0001t0003g0227others(2): Show | 5 | 390 | 0.0128 | 39 | c.286 others(56): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
RCHY1_chr4_75474033_75519403 | 75487811 | A | AATATATA others(32): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0137 | 1 | 406 | 0.0025 | 39 | c.657 others(56): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
RCHY1_chr4_75474033_75519403 | 75487824 | A | AATATATA others(32): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 406 | 0.0025 | 39 | c.657 others(56): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
RCHY1_chr4_75474033_75519403 | 75487852 | A | AATATATA others(32): Show |
intron_variant | MODIFIER | NA19003.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262a0001c0001t0001g0281 | 2 | 406 | 0.0049 | 39 | c.657 others(56): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
RCHY1_chr4_75474033_75519403 | 75487882 | T | TATATATT others(32): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 406 | 0.0025 | 39 | c.657 others(56): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167701317 | T | TTTCTTTC others(32): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0102 | 1 | 350 | 0.0029 | 39 | c.121 others(58): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCVRN_chr17_9891320_9910271 | 9909042 | G | GAGGTCCT others(32): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0021 | 1 | 480 | 0.0021 | 39 | c.-38 others(50): Show |
RCVRN | ENSG00000109047.8 | transcript | ENST00000226193.6 | protein_coding | 3772 | chr17 | TogoVar | ||||||
RDH12_chr14_67696886_67739451 | 67738510 | T | TATTATGA others(32): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 434 | 0.0023 | 39 | c.*46 others(50): Show |
RDH12 | ENSG00000139988.10 | transcript | ENST00000551171.6 | protein_coding | 4060 | chr14 | TogoVar | ||||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 376 | 0.0027 | 39 | c.-65 others(56): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1499698 | A | AGCAGAGA others(32): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 318 | 0.0031 | 39 | c.*24 others(50): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 1772 | chr19 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8559280 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0026 | a0002c0026t0008 | a0002c0026t0008g0140 | 1 | 204 | 0.0049 | 39 | c.523 others(56): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0155 | 1 | 204 | 0.0049 | 39 | c.-14 others(60): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
REST_chr4_56902900_56940844 | 56905347 | T | TATATATA others(32): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01099.hp1 HG02074.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0046a0003c0003t0002g0061a0003c0003t0002g0119 | 3 | 408 | 0.0074 | 39 | c.-28 others(50): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2552 | chr4 | TogoVar | ||||||
RFC5_chr12_118011703_118037234 | 118034584 | T | TCTCTCTC others(32): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 2 | 438 | 0.0046 | 39 | c.*33 others(50): Show |
RFC5 | ENSG00000111445.14 | transcript | ENST00000454402.7 | protein_coding | 2351 | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296096 | C | CTTTCTTT others(32): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 388 | 0.0026 | 39 | c.207 others(54): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFLNA_chr12_124290093_124321024 | 124296124 | C | CTTTCTTT others(32): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0250 | 1 | 388 | 0.0026 | 39 | c.207 others(54): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFLNA_chr12_124290093_124321024 | 124296124 | C | CTTTTCTT others(32): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0271 | 1 | 388 | 0.0026 | 39 | c.207 others(54): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFLNA_chr12_124290093_124321024 | 124296151 | C | CTCTCTCT others(32): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01928.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0111a0001c0001t0008g0112a0001c0001t0008g0113 | 3 | 388 | 0.0077 | 39 | c.207 others(54): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFLNA_chr12_124290093_124321024 | 124296161 | C | CTCTCTCT others(32): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0135 | 1 | 388 | 0.0026 | 39 | c.207 others(54): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFLNA_chr12_124290093_124321024 | 124296166 | C | CTCTCTCT others(32): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02132.hp2 HG02602.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0029a0001c0002t0003others(1): Show | a0001c0001t0008g0150a0001c0001t0008g0154a0001c0001t0029g0153others(3): Show | 6 | 388 | 0.0155 | 39 | c.207 others(54): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFLNA_chr12_124290093_124321024 | 124296167 | T | TTTCTTTC others(32): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0047 | 1 | 388 | 0.0026 | 39 | c.207 others(54): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFTN1_chr3_16310845_16518699 | 16404010 | A | AATATATA others(32): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01256.hp1 HG02451.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0011a0002c0003t0003 | a0001c0002t0002g0054a0001c0002t0011g0053a0002c0003t0003g0139 | 3 | 268 | 0.0112 | 39 | c.441 others(56): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16404152 | T | TATATTAT others(32): Show |
intron_variant | MODIFIER | HG02630.hp1 HG06807.hp2 NA20129.hp2 |
a0001a0002 | a0001c0009a0002c0003 | a0001c0009t0001a0002c0003t0004a0002c0003t0006 | a0001c0009t0001g0110a0002c0003t0004g0036a0002c0003t0006g0165 | 3 | 268 | 0.0112 | 39 | c.441 others(56): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56219643 | G | GCTTAGGA others(32): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0110 | 1 | 360 | 0.0028 | 39 | c.161 others(58): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
RGMA_chr15_93030271_93094211 | 93038569 | G | GTTTTTTT others(32): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0223 | a0001c0001t0223g0110 | 1 | 414 | 0.0024 | 39 | c.*64 others(50): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 4/4 | 6428 | chr15 | TogoVar | |||||
RGS12_chr4_3288021_3444913 | 3413096 | G | GCCCCCCC others(32): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0015 | 1 | 312 | 0.0032 | 39 | c.202 others(56): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RGS21_chr1_192311992_192372285 | 192320574 | G | GTGTATGT others(32): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 302 | 0.0033 | 39 | c.-61 others(56): Show |
RGS21 | ENSG00000253148.1 | transcript | ENST00000417209.2 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
RGS6_chr14_71927429_72571530 | 72053033 | C | CTCCCTCC others(32): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 130 | 0.0077 | 39 | c.84+ others(56): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RGS7_chr1_240770514_241362205 | 241259667 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 112 | 0.0089 | 39 | c.78+ others(56): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
RGS9_chr17_65132370_65232703 | 65223752 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 222 | 0.0045 | 39 | c.140 others(58): Show |
RGS9 | ENSG00000108370.17 | transcript | ENST00000262406.10 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RHBDD1_chr2_226831054_227004210 | 227000611 | G | GCTGCAGT others(32): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0107 | 1 | 264 | 0.0038 | 39 | c.*50 others(50): Show |
RHBDD1 | ENSG00000144468.17 | transcript | ENST00000392062.7 | protein_coding | 1402 | chr2 | TogoVar | ||||||
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAAAAT others(32): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 374 | 0.0027 | 39 | c.-23 others(50): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206064522 | A | AGCTCCTC others(32): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(301): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(269): Show | 304 | 334 | 0.9102 | 39 | c.-97 others(58): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHEX_chr1_206048173_206107449 | 206064522 | A | AGCTCCTC others(32): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0123 | 1 | 334 | 0.0030 | 39 | c.-97 others(58): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | chr1 | TogoVar |