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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS6KC1_chr1_213046241_213279774 | 213118021 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00733.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0092 others(1): Show |
4 | 100 | 0.0400 | 35 | c.472 others(50): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23761901 | A | ATCCATCC others(28): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG03098.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0019a0002c0002t0079a0002c0002t0081others(2): Show | a0002c0002t0019g0170 a0002c0002t0079g0231 a0002c0002t0081g0165 others(2): Show |
5 | 271 | 0.0185 | 35 | c.-15 others(46): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1102 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761906 | T | TCTCTCTC others(28): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 NA18945.hp2 NA18947.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0281 a0001c0001t0001g0311 a0001c0001t0006g0312 others(1): Show |
4 | 256 | 0.0156 | 35 | c.-15 others(46): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1097 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761906 | T | TCTCTCTC others(28): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 253 | 0.0040 | 35 | c.-15 others(46): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1097 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665502 | C | CCTTTCCT others(28): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0051 | a0001c0051t0060 | a0001c0051t0060g0115 | 1 | 147 | 0.0068 | 35 | c.348 others(54): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80685627 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0035 | a0001c0035t0010 | a0001c0035t0010g0062 | 1 | 38 | 0.0263 | 35 | c.349 others(54): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77725244 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG03540.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0155 a0001c0001t0005g0206 |
2 | 102 | 0.0196 | 35 | c.587 others(54): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSF1_chr11_77655009_77825722 | 77729895 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0270 | 1 | 61 | 0.0164 | 35 | c.579 others(52): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158202562 | T | TTTATATA others(28): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 78 | 0.0128 | 35 | c.321 others(50): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158518148 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 96 | 0.0104 | 35 | c.653 others(54): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63683877 | G | GTAAGTTC others(28): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00642.hp2 others(50): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 others(50): Show |
53 | 58 | 0.9138 | 35 | c.119 others(54): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RTL6_chr22_44487583_44503233 | 44492352 | T | TAGTGGGG others(28): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 400 | 0.0050 | 35 | c.*44 others(46): Show |
RTL6 | ENSG00000188636.4 | transcript | ENST00000341255.4 | protein_coding | 230 | chr22 | TogoVar | |||||||
RTL8A_chrX_135045932_135057135 | 135050291 | T | TTATAATT others(28): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 316 | 0.0032 | 35 | c.*14 others(46): Show |
RTL8A | ENSG00000203950.7 | transcript | ENST00000370775.3 | protein_coding | 640 | chrX | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59749957 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 170 | 0.0059 | 35 | c.242 others(52): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106634144 | T | TCTCTCTT others(28): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 394 | 0.0025 | 35 | c.-51 others(46): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 4647 | chr6 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1932063 | G | GCAGGCGT others(28): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01106.hp2 others(95): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(46): Show | a0001c0001t0003g0016 a0001c0001t0005g0362 a0001c0001t0011g0096 others(93): Show |
98 | 382 | 0.2565 | 35 | c.*44 others(46): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 2613 | chr17 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70774644 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0239 | 1 | 115 | 0.0087 | 35 | c.759 others(50): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87626348 | T | TATATATG others(28): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 168 | 0.0060 | 35 | c.-24 others(46): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2049 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626351 | A | ATGTGTCG others(28): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0124 | 1 | 196 | 0.0051 | 35 | c.-24 others(46): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2046 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626355 | G | GTGTCATA others(28): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0034 | 1 | 192 | 0.0052 | 35 | c.-24 others(46): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2042 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626368 | G | GTGTCATA others(28): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0035 | 1 | 189 | 0.0053 | 35 | c.-24 others(46): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2029 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626394 | G | GTGTCATA others(28): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 | 1 | 192 | 0.0052 | 35 | c.-24 others(46): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2003 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626413 | T | TATATATG others(28): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 HG03041.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0032a0001c0001t0073 | a0001c0001t0005g0052 a0001c0001t0032g0051 a0001c0001t0073g0053 |
3 | 181 | 0.0166 | 35 | c.-24 others(46): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1984 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626420 | G | GTGTCATA others(28): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 187 | 0.0053 | 35 | c.-24 others(46): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1977 | chr7 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34849425 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0146 | 1 | 155 | 0.0065 | 35 | c.613 others(54): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34849425 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 155 | 0.0065 | 35 | c.613 others(54): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34967319 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 14 | 0.0714 | 35 | c.59- others(52): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUVBL2_chr19_48988887_49020970 | 48992487 | C | CAGGCCCG others(28): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(207): Show |
227 | 410 | 0.5537 | 35 | c.-14 others(46): Show |
RUVBL2 | ENSG00000183207.15 | transcript | ENST00000595090.6 | protein_coding | 1399 | chr19 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183643415 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0394 |
2 | 6 | 0.3333 | 35 | c.535 others(52): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 7/7 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158542109 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 25 | 0.0400 | 35 | c.49+ others(52): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP3_chr5_33931386_33943918 | 33935010 | C | CTTTCTTT others(28): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0000 | 2 | 443 | 0.0045 | 35 | c.-17 others(46): Show |
RXFP3 | ENSG00000182631.7 | transcript | ENST00000330120.5 | protein_coding | 1375 | chr5 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134388179 | A | ATCCTAGG others(28): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01192.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0052 a0001c0001t0002g0071 a0001c0001t0002g0198 others(10): Show |
13 | 230 | 0.0565 | 35 | c.29- others(52): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237237945 | C | CCCTTTCC others(28): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0028others(1): Show | a0001c0001t0007a0001c0002t0003a0001c0028t0007others(1): Show | a0001c0001t0007g0011 a0001c0002t0003g0052 a0001c0028t0007g0062 others(1): Show |
4 | 12 | 0.3333 | 35 | c.49- others(52): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237473442 | T | TTTCTTTC others(28): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 |
a0001a0002 | a0001c0045a0002c0038 | a0001c0045t0001a0002c0038t0040 | a0001c0045t0001g0073 a0002c0038t0040g0096 |
2 | 69 | 0.0290 | 35 | c.170 others(54): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 17/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
S100A1_chr1_153623434_153637039 | 153634599 | G | GACAGGGC others(28): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(225): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0002c0003t0001a0003c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(20): Show |
228 | 376 | 0.6064 | 35 | c.*27 others(46): Show |
S100A1 | ENSG00000160678.12 | transcript | ENST00000292169.6 | protein_coding | 2561 | chr1 | TogoVar | |||||||
S100A1_chr1_153623434_153637039 | 153634601 | C | CAGGGCTT others(28): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | 35 | c.*27 others(46): Show |
S100A1 | ENSG00000160678.12 | transcript | ENST00000292169.6 | protein_coding | 2563 | chr1 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 53 | 0.0189 | 35 | c.-28 others(46): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 NA18989.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0036 a0001c0002t0005g0164 |
2 | 54 | 0.0370 | 35 | c.-28 others(46): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 NA18959.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0036 a0001c0002t0003g0158 |
2 | 54 | 0.0370 | 35 | c.-28 others(46): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0037 | 1 | 53 | 0.0189 | 35 | c.-28 others(46): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0023 | 1 | 53 | 0.0189 | 35 | c.-28 others(46): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 936432 | T | TCCCGCCT others(28): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0313 | 1 | 422 | 0.0024 | 35 | c.967 others(50): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54724007 | T | TGGAAGGA others(28): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0192 | 1 | 62 | 0.0161 | 35 | c.716 others(54): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAP130_chr2_127936222_128033059 | 128003957 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 74 | 0.0135 | 35 | c.870 others(52): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | TogoVar | |||||||
SAP25_chr7_100567228_100578900 | 100574632 | G | GCGCGCGC others(28): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 362 | 0.0028 | 35 | c.-89 others(44): Show |
SAP25 | ENSG00000205307.12 | transcript | ENST00000622764.3 | protein_coding | 733 | chr7 | TogoVar | |||||||
SAPCD2_chr9_137057127_137075557 | 137070668 | A | ATTTTTTT others(28): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0126 | 1 | 4 | 0.2500 | 35 | c.-20 others(44): Show |
SAPCD2 | ENSG00000186193.9 | transcript | ENST00000409687.5 | protein_coding | 112 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668496 | C | CTCACCCT others(28): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0250 | 1 | 260 | 0.0038 | 35 | c.249 others(54): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55774558 | T | TAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 164 | 0.0061 | 35 | c.502 others(54): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971088 | A | AGCTGCTG others(28): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0164 | 1 | 253 | 0.0040 | 35 | c.157 others(54): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SART3_chr12_108517214_108566173 | 108564523 | G | GAGATGGG others(28): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 392 | 0.0026 | 35 | c.-34 others(46): Show |
SART3 | ENSG00000075856.12 | transcript | ENST00000546815.6 | protein_coding | 3351 | chr12 | TogoVar |