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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RFC5_chr12_118011703_118037234 | 118034584 | T | TCTCTCTC others(34): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 434 | 0.0023 | 41 | c.*33 others(52): Show |
RFC5 | ENSG00000111445.14 | transcript | ENST00000454402.7 | protein_coding | 2351 | chr12 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296157 | T | TCTTTCTT others(34): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03834.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0128 a0001c0002t0004g0265 a0001c0002t0004g0374 |
3 | 358 | 0.0084 | 41 | c.207 others(56): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16403970 | T | TATAATAT others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01069.hp2 others(44): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(44): Show |
47 | 206 | 0.2282 | 41 | c.441 others(58): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RGMA_chr15_93030271_93094211 | 93038569 | G | GTTTTTTT others(34): Show |
3_prime_UTR_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0003 | a0002c0003t0181 | a0002c0003t0181g0170 | 1 | 280 | 0.0036 | 41 | c.*64 others(52): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 4/4 | 6428 | chr15 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47090957 | A | AAAGAAAG others(34): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0194 | 1 | 300 | 0.0033 | 41 | c.563 others(56): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47090961 | A | AAAGAAAG others(34): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 119 | 0.0084 | 41 | c.563 others(56): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGPD2_chr2_87750960_87830796 | 87824769 | C | CCGGCCAG others(34): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0003 | a0003c0027 | a0003c0027t0012 | a0003c0027t0012g0021 | 1 | 171 | 0.0058 | 41 | c.72+ others(54): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(34): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00621.hp1 others(69): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0001c0009others(8): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(9): Show | a0001c0003t0001g0106 a0001c0003t0001g0272 a0001c0003t0001g0273 others(69): Show |
72 | 87 | 0.8276 | 41 | c.188 others(60): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 241327045 | A | AGGGAGGG others(34): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0021 | 1 | 104 | 0.0096 | 41 | c.78+ others(58): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RHBDD2_chr7_75874034_75893926 | 75882962 | G | GGCCCACA others(34): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0080 | 1 | 392 | 0.0026 | 41 | c.586 others(56): Show |
RHBDD2 | ENSG00000005486.17 | transcript | ENST00000006777.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RHBDL1_chr16_670671_683268 | 680910 | A | ACCCCCCC others(34): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 370 | 0.0027 | 41 | c.*28 others(52): Show |
RHBDL1 | ENSG00000103269.14 | transcript | ENST00000352681.8 | protein_coding | 2643 | chr16 | TogoVar | |||||||
RICTOR_chr5_38932920_39079399 | 38990731 | T | TCTGATAT others(34): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 336 | 0.0030 | 41 | c.583 others(56): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 7/37 | chr5 | TogoVar | |||||||
RIGI_chr9_32450302_32531196 | 32450961 | T | TATCAATC others(34): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02717.hp1 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0020others(4): Show | a0001c0001t0008a0001c0003t0008a0001c0020t0008others(4): Show | a0001c0001t0008g0029 a0001c0001t0008g0176 a0001c0003t0008g0080 others(5): Show |
8 | 329 | 0.0243 | 41 | c.*61 others(52): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 4340 | chr9 | TogoVar | |||||||
RIGI_chr9_32450302_32531196 | 32508239 | A | ATTTTTTT others(34): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0119 | 1 | 48 | 0.0208 | 41 | c.107 others(58): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130572199 | G | GCCACAGT others(34): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp2 others(40): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0025 others(40): Show |
43 | 178 | 0.2416 | 41 | c.-21 others(62): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92561044 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0213 | 1 | 79 | 0.0127 | 41 | c.249 others(58): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
RIT2_chr18_42738227_43120685 | 43057798 | C | CTTTTTTT others(34): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0059 | 1 | 79 | 0.0127 | 41 | c.104 others(60): Show |
RIT2 | ENSG00000152214.14 | transcript | ENST00000326695.10 | protein_coding | 1/4 | chr18 | TogoVar | |||||||
RLF_chr1_40156387_40245921 | 40200917 | C | CACACACA others(34): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0330 | 1 | 335 | 0.0030 | 41 | c.608 others(58): Show |
RLF | ENSG00000117000.9 | transcript | ENST00000372771.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RLF_chr1_40156387_40245921 | 40200919 | C | CACACACA others(34): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03041.hp2 NA20129.hp2 |
a0003a0014 | a0003c0003a0014c0022 | a0003c0003t0001a0014c0022t0001 | a0003c0003t0001g0324 a0003c0003t0001g0325 a0014c0022t0001g0332 |
3 | 322 | 0.0093 | 41 | c.608 others(58): Show |
RLF | ENSG00000117000.9 | transcript | ENST00000372771.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF141_chr11_10506673_10546187 | 10539699 | T | TATATATA others(34): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0270 | 1 | 129 | 0.0078 | 41 | c.-48 others(58): Show |
RNF141 | ENSG00000110315.7 | transcript | ENST00000265981.7 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RNF141_chr11_10506673_10546187 | 10539699 | T | TATATATA others(34): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG01175.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0025a0001c0002t0001others(1): Show | a0001c0001t0005g0281 a0001c0001t0025g0121 a0001c0002t0001g0027 others(8): Show |
12 | 140 | 0.0857 | 41 | c.-48 others(58): Show |
RNF141 | ENSG00000110315.7 | transcript | ENST00000265981.7 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RNF141_chr11_10506673_10546187 | 10539701 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197 | 1 | 137 | 0.0073 | 41 | c.-48 others(58): Show |
RNF141 | ENSG00000110315.7 | transcript | ENST00000265981.7 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RNF187_chr1_228482382_228501188 | 228492421 | A | AAGCGATT others(34): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 420 | 0.0024 | 41 | c.484 others(56): Show |
RNF187 | ENSG00000168159.15 | transcript | ENST00000305943.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF2_chr1_185040558_185107603 | 185076268 | G | GTTTTTTT others(34): Show |
intron_variant | MODIFIER | HG03139.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0330 a0001c0001t0014g0183 |
2 | 30 | 0.0667 | 41 | c.-2- others(58): Show |
RNF2 | ENSG00000121481.11 | transcript | ENST00000367510.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF2_chr1_185040558_185107603 | 185082345 | C | CTTTTTTT others(34): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0112 a0001c0001t0004g0238 |
2 | 7 | 0.2857 | 41 | c.-2- others(56): Show |
RNF2 | ENSG00000121481.11 | transcript | ENST00000367510.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ROBO1_chr3_78592239_79772998 | 79334334 | G | GTATATAT others(34): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0009 a0002c0004t0007g0010 |
2 | 34 | 0.0588 | 41 | c.89- others(60): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 79496387 | C | CATTTTTT others(34): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0015 | 1 | 9 | 0.1111 | 41 | c.88+ others(58): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 79502728 | A | ATTGTAAA others(34): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 others(35): Show |
38 | 44 | 0.8636 | 41 | c.88+ others(58): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 79550195 | G | GAAAGAAA others(34): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0017 | 1 | 11 | 0.0909 | 41 | c.88+ others(58): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77277212 | C | CTTTCTTT others(34): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 154 | 0.0065 | 41 | c.388 others(62): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGA others(34): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0038 | 1 | 217 | 0.0046 | 41 | c.142 others(58): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGA others(34): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18944.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0077 a0002c0002t0003g0061 |
2 | 218 | 0.0092 | 41 | c.142 others(58): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGA others(34): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0064 | 1 | 217 | 0.0046 | 41 | c.142 others(58): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGA others(34): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01255.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0041 | a0002c0002t0002g0063 a0002c0002t0041g0088 |
2 | 218 | 0.0092 | 41 | c.142 others(58): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
RPA4_chrX_96878908_96890467 | 96881057 | T | TGAGGAAG others(34): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 317 | 0.0032 | 41 | c.-32 others(52): Show |
RPA4 | ENSG00000204086.4 | transcript | ENST00000373040.4 | protein_coding | 2850 | chrX | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 319893 | G | GGGGGGGA others(34): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0103 | 1 | 118 | 0.0085 | 41 | c.222 others(56): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 4/9 | chr17 | TogoVar | |||||||
RPH3A_chr12_112786748_112903881 | 112791867 | G | GAGAGAGA others(34): Show |
5_prime_UTR_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0004 | a0002c0004t0069 | a0002c0004t0069g0162 | 1 | 7 | 0.1429 | 41 | c.-28 others(50): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 1/22 | 36451 | chr12 | TogoVar | ||||||
RPL10_chrX_154393377_154407332 | 154396712 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 HG02145.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0004 |
2 | 156 | 0.0128 | 41 | c.-17 others(52): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 1664 | chrX | TogoVar | |||||||
RPL4_chr15_66493015_66509855 | 66509844 | T | TGAATGAG others(34): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 426 | 0.0023 | 41 | c.-50 others(52): Show |
RPL4 | ENSG00000174444.15 | transcript | ENST00000307961.11 | protein_coding | 4990 | chr15 | TogoVar | |||||||
RPS6KA4_chr11_64354162_64377215 | 64354829 | T | TCTCCCTG others(34): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0044 |
3 | 400 | 0.0075 | 41 | c.-44 others(52): Show |
RPS6KA4 | ENSG00000162302.13 | transcript | ENST00000334205.9 | protein_coding | 4332 | chr11 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213118021 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18956.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0296 a0001c0001t0001g0303 |
3 | 99 | 0.0303 | 41 | c.472 others(56): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23761906 | T | TCTCTCTC others(34): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 253 | 0.0040 | 41 | c.-15 others(52): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1097 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761906 | T | TCTCTCTC others(34): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 NA19005.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0114 | a0001c0001t0014g0260 a0001c0001t0014g0335 a0001c0001t0114g0275 |
3 | 255 | 0.0118 | 41 | c.-15 others(52): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1097 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761906 | T | TCTCTCTC others(34): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp1 others(6): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0259 a0001c0001t0001g0269 others(6): Show |
9 | 261 | 0.0345 | 41 | c.-15 others(52): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1097 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761906 | T | TCTCTCTC others(34): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 NA18981.hp1 NA18982.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0049a0001c0001t0057a0001c0014t0001 | a0001c0001t0049g0313 a0001c0001t0057g0296 a0001c0014t0001g0289 |
3 | 255 | 0.0118 | 41 | c.-15 others(52): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1097 | chr19 | TogoVar | |||||||
RRAGB_chrX_55712749_55763774 | 55749490 | A | AGTGAGGA others(34): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 274 | 0.0036 | 41 | c.517 others(58): Show |
RRAGB | ENSG00000083750.13 | transcript | ENST00000374941.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6776122 | C | CAATTCTG others(34): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0108 | 1 | 108 | 0.0093 | 41 | c.122 others(58): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6793914 | T | TCCTTTGC others(34): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02135.hp1 HG03239.hp2 others(1): Show |
a0002a0003 | a0002c0006a0003c0004 | a0002c0006t0001a0003c0004t0001 | a0002c0006t0001g0078 a0003c0004t0001g0048 a0003c0004t0001g0102 others(1): Show |
4 | 104 | 0.0385 | 41 | c.223 others(60): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6794035 | T | TCACCTTT others(34): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0065 | 1 | 108 | 0.0093 | 41 | c.223 others(60): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6794093 | C | CATCTTGG others(34): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03942.hp2 HG04228.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 |
3 | 77 | 0.0390 | 41 | c.223 others(60): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |