| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MRPL24_chr1_156732303_156746088 | 156735546 | A | AAAAAAAA others(398): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 364 | 0.0028 | 405 | c.*18 others(416): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1756 | chr1 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195776385 | C | CCATACCT others(398): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0014 | a0014c0022 | a0014c0022t0004 | a0014c0022t0004g0246 | 1 | 249 | 0.0040 | 405 | c.129 others(426): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195776880 | C | CCATACCT others(398): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0045 | a0045c0155 | a0045c0155t0002 | a0045c0155t0002g0025 | 1 | 249 | 0.0040 | 405 | c.129 others(426): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(398): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 350 | 0.0029 | 405 | c.-28 others(416): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158704364 | G | GGTCGCTC others(398): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00621.hp2 others(16): Show |
a0002a0019 | a0002c0002a0019c0023 | a0002c0002t0001a0019c0023t0001 | a0002c0002t0001g0143a0002c0002t0001g0144a0002c0002t0001g0145others(16): Show | 19 | 378 | 0.0503 | 405 | c.-40 others(420): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 1/27 | chr7 | TogoVar | ||||||
| NFILZ_chr19_8625633_8686151 | 8656482 | C | CAGCGCAC others(398): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0092 | a0002c0002t0092g0244 | 1 | 366 | 0.0027 | 405 | c.-16 others(426): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(398): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 362 | 0.0028 | 405 | c.-75 others(424): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(398): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0041 | 1 | 362 | 0.0028 | 405 | c.-75 others(424): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NHLRC4_chr16_562005_574495 | 571084 | T | TCTGGCTA others(398): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 405 | c.*26 others(416): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993545 | C | CCCCCTCC others(398): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0000 | a0000c0011 | a0000c0011t0006 | a0000c0011t0006g0017 | 1 | 350 | 0.0029 | 405 | c.*56 others(416): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4917 | chr19 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397726 | C | CGGGGGGT others(398): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 356 | 0.0028 | 405 | c.91+ others(418): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NOTCH1_chr9_136489433_136551048 | 136535579 | G | GCACTCAG others(398): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0081 | 1 | 324 | 0.0031 | 405 | c.140 others(422): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(398): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0316a0001c0004t0003g0317 | 2 | 324 | 0.0062 | 405 | c.140 others(422): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(398): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0321 | 1 | 324 | 0.0031 | 405 | c.140 others(422): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| ODF3_chr11_191761_205258 | 196289 | A | AGGACATG others(398): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 388 | 0.0026 | 405 | c.-76 others(414): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 471 | chr11 | TogoVar | ||||||
| OSBPL9_chr1_51612092_51794219 | 51711478 | C | CCCTCCCG others(398): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 186 | 0.0054 | 405 | c.242 others(422): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PALD1_chr10_70473767_70573450 | 70554949 | T | TCCCCTCC others(398): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0303 | 1 | 308 | 0.0033 | 405 | c.226 others(424): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45746270 | T | TTGTCAGC others(398): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0213 | 1 | 292 | 0.0034 | 405 | c.-16 others(424): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45746360 | T | TTGTCAGC others(398): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0231a0001c0001t0003g0064 | 2 | 292 | 0.0069 | 405 | c.-16 others(424): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45746360 | T | TTGTCAGC others(398): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03486.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0003g0061 | 3 | 292 | 0.0103 | 405 | c.-16 others(424): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45746360 | T | TTGTCAGC others(398): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0093a0001c0001t0011g0282 | 2 | 292 | 0.0069 | 405 | c.-16 others(424): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45746374 | G | GTGTCAGT others(398): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 292 | 0.0034 | 405 | c.-16 others(424): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PEBP4_chr8_22708251_22932914 | 22709296 | G | GATCATCA others(398): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 278 | 0.0036 | 405 | c.*40 others(416): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3954 | chr8 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 976875 | C | CAACCCCG others(398): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 408 | 0.0025 | 405 | c.215 others(422): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72681911 | C | CCCCCCCG others(398): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0121 | 1 | 237 | 0.0042 | 405 | c.537 others(422): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | ||||||
| PIMREG_chr17_6439455_6456469 | 6455713 | G | GGGGAGGA others(398): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 312 | 0.0032 | 405 | c.*53 others(416): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4245 | chr17 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51989901 | G | GAGGAAGG others(398): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0006 | a0006c0076 | a0006c0076t0005 | a0006c0076t0005g0088 | 1 | 134 | 0.0075 | 405 | c.575 others(426): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51989907 | G | GGAAGGAA others(398): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0078 | 1 | 134 | 0.0075 | 405 | c.575 others(426): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51989907 | G | GGAAGGAA others(398): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0134 | 1 | 134 | 0.0075 | 405 | c.575 others(426): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48835044 | G | GGCCTGGA others(398): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0001 | 1 | 300 | 0.0033 | 405 | c.*22 others(416): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2052 | chr19 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977476 | C | CAACCCCG others(398): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG03834.hp2 NA18747.hp2 |
a0001a0004 | a0001c0001a0004c0031 | a0001c0001t0001a0001c0001t0015a0004c0031t0001 | a0001c0001t0001g0001a0001c0001t0015g0001a0004c0031t0001g0111 | 3 | 422 | 0.0071 | 405 | c.*29 others(416): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1612 | chr1 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66798461 | G | GTGGTGGT others(398): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0022 | 1 | 178 | 0.0056 | 405 | c.185 others(424): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKG1_chr10_51069487_52303350 | 51449643 | A | AACAGCAT others(398): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0033 | 1 | 64 | 0.0156 | 405 | c.479 others(424): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PRPF31_chr19_54110754_54136713 | 54133829 | C | CCCTCCCT others(398): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 227 | 0.0044 | 405 | c.*23 others(416): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | ||||||
| PWWP2B_chr10_132392200_132422859 | 132392560 | A | AATGGTGA others(398): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 374 | 0.0027 | 405 | c.-46 others(416): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4639 | chr10 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803280 | G | GCCGGGGC others(398): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 330 | 0.0030 | 405 | c.-49 others(416): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4667 | chr9 | TogoVar | ||||||
| RANBP10_chr16_67718070_67811560 | 67782758 | T | TCACTTTT others(398): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 152 | 0.0066 | 405 | c.348 others(424): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2/13 | chr16 | TogoVar | ||||||
| RASSF2_chr20_4775023_4828608 | 4798758 | A | AGAGGTTG others(398): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0094 | 1 | 430 | 0.0023 | 405 | c.60- others(418): Show |
RASSF2 | ENSG00000101265.16 | transcript | ENST00000379400.8 | protein_coding | 3/11 | chr20 | TogoVar | ||||||
| RASSF2_chr20_4775023_4828608 | 4798758 | A | AGAGGTTG others(398): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00642.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0002g0148a0001c0001t0002g0163a0001c0001t0002g0343others(46): Show | 51 | 430 | 0.1186 | 405 | c.60- others(418): Show |
RASSF2 | ENSG00000101265.16 | transcript | ENST00000379400.8 | protein_coding | 3/11 | chr20 | TogoVar | ||||||
| RASSF2_chr20_4775023_4828608 | 4798758 | A | AGAGGTTG others(398): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18965.hp1 NA18983.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0330others(2): Show | 8 | 430 | 0.0186 | 405 | c.60- others(418): Show |
RASSF2 | ENSG00000101265.16 | transcript | ENST00000379400.8 | protein_coding | 3/11 | chr20 | TogoVar | ||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(398): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 318 | 0.0031 | 405 | c.*36 others(416): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3341502 | G | GGGCGGAG others(398): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0175 | 1 | 312 | 0.0032 | 405 | c.188 others(424): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RIPOR3_chr20_50581108_50696542 | 50609974 | A | ACCCCTGC others(398): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0215 | 2 | 280 | 0.0071 | 405 | c.427 others(420): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 6/21 | chr20 | TogoVar | ||||||
| RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(398): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 408 | 0.0025 | 405 | c.182 others(422): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(398): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG02135.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0119a0001c0002t0003g0120a0001c0002t0003g0122others(3): Show | 6 | 408 | 0.0147 | 405 | c.182 others(422): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RNF17_chr13_24759169_24884921 | 24881816 | C | CTATATAG others(398): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0324 | 1 | 426 | 0.0024 | 405 | c.*20 others(416): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1896 | chr13 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80355505 | C | CCGGGAAT others(398): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0007 | a0007c0008 | a0007c0008t0046 | a0007c0008t0046g0232 | 1 | 292 | 0.0034 | 405 | c.108 others(424): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 220500 | T | TCAGCTCT others(398): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0069a0001c0001t0010g0131 | 2 | 133 | 0.0150 | 405 | c.614 others(420): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 221940 | T | TCAGCTCT others(398): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0069a0001c0001t0010g0131 | 2 | 133 | 0.0150 | 405 | c.614 others(422): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
| RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(398): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 396 | 0.0025 | 405 | c.807 others(422): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar |