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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS20_chr8_56068054_56079506 | 56068807 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 26 | 0.0385 | 17 | c.*42 others(28): Show |
RPS20 | ENSG00000008988.11 | transcript | ENST00000009589.8 | protein_coding | 4246 | chr8 | TogoVar | |||||||
RPS20_chr8_56068054_56079506 | 56079202 | A | AAATTATC others(10): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 2 | 330 | 0.0061 | 17 | c.-48 others(28): Show |
RPS20 | ENSG00000008988.11 | transcript | ENST00000009589.8 | protein_coding | 4697 | chr8 | TogoVar | |||||||
RPS29_chr14_49578577_49591380 | 49582012 | C | CCAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 5 | 138 | 0.0362 | 17 | c.*16 others(28): Show |
RPS29 | ENSG00000213741.11 | transcript | ENST00000245458.11 | protein_coding | 1564 | chr14 | TogoVar | |||||||
RPS3A_chr4_151094628_151109642 | 151097443 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 78 | 0.0128 | 17 | c.-22 others(28): Show |
RPS3A | ENSG00000145425.10 | transcript | ENST00000274065.9 | protein_coding | 2184 | chr4 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166468856 | T | TCCATCTC others(10): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 |
a0001 | a0001c0004a0001c0049 | a0001c0004t0020a0001c0049t0022 | a0001c0004t0020g0201 a0001c0049t0022g0001 |
2 | 75 | 0.0267 | 17 | c.972 others(32): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 11/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166475151 | T | TGCCCACT others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0006a0001c0010a0001c0018others(3): Show | a0001c0006t0037a0001c0010t0005a0001c0018t0006others(3): Show | a0001c0006t0037g0074 a0001c0010t0005g0199 a0001c0018t0006g0052 others(3): Show |
6 | 242 | 0.0248 | 17 | c.908 others(34): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166475154 | C | CCACTCCT others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(117): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(70): Show | a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0104 others(117): Show |
120 | 242 | 0.4959 | 17 | c.908 others(34): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166480477 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18906.hp2 |
a0001 | a0001c0009a0001c0052 | a0001c0009t0001a0001c0052t0004 | a0001c0009t0001g0236 a0001c0052t0004g0205 |
2 | 217 | 0.0092 | 17 | c.907 others(34): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166550994 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0061 | a0001c0061t0015 | a0001c0061t0015g0073 | 1 | 19 | 0.0526 | 17 | c.100 others(36): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 90885552 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0148 | a0001c0001t0148g0056 | 1 | 45 | 0.0222 | 17 | c.183 others(36): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 14/16 | chr14 | TogoVar | |||||||
RPS6KB2_chr11_67423494_67440401 | 67425542 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0002 | 1 | 376 | 0.0027 | 17 | c.-30 others(28): Show |
RPS6KB2 | ENSG00000175634.15 | transcript | ENST00000312629.10 | protein_coding | 2951 | chr11 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213118021 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02080.hp2 others(16): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0045 others(16): Show |
19 | 115 | 0.1652 | 17 | c.472 others(32): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23824580 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0092 | 1 | 54 | 0.0185 | 17 | c.-92 others(34): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80561288 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0007 | a0001c0007t0084 | a0001c0007t0084g0007 | 1 | 194 | 0.0052 | 17 | c.162 others(36): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80634582 | T | TGCGTACT others(10): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0008 | a0001c0008t0027 | a0001c0008t0027g0129 | 1 | 174 | 0.0057 | 17 | c.265 others(34): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80685627 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0028 | a0001c0028t0005 | a0001c0028t0005g0124 | 1 | 38 | 0.0263 | 17 | c.349 others(36): 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(10): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03688.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0090 | a0001c0003t0001g0186 a0001c0007t0090g0025 |
2 | 39 | 0.0513 | 17 | c.349 others(36): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPUSD4_chr11_126197096_126216650 | 126214490 | G | GTTTTGTT others(10): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0006 | 1 | 358 | 0.0028 | 17 | c.-28 others(28): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2841 | chr11 | TogoVar | |||||||
RPUSD4_chr11_126197096_126216650 | 126214490 | G | GTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 NA19091.hp2 |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0004 a0002c0001t0003g0014 |
2 | 359 | 0.0056 | 17 | c.-28 others(28): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2841 | chr11 | TogoVar | |||||||
RRAGC_chr1_38833198_38864772 | 38836544 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01167.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0091 |
7 | 138 | 0.0507 | 17 | c.*30 others(28): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 1653 | chr1 | TogoVar | |||||||
RRAGD_chr6_89359616_89417273 | 89402038 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 a0001c0001t0007g0268 a0001c0001t0007g0272 others(4): Show |
8 | 88 | 0.0909 | 17 | c.148 others(34): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
RRAGD_chr6_89359616_89417273 | 89402046 | T | TTTTTCTT others(10): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0271 | 1 | 370 | 0.0027 | 17 | c.148 others(34): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
RRH_chr4_109822972_109849942 | 109836891 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0144 a0001c0001t0006g0016 a0001c0001t0006g0055 |
6 | 74 | 0.0811 | 17 | c.552 others(32): Show |
RRH | ENSG00000180245.7 | transcript | ENST00000317735.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4130086 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 324 | 0.0031 | 17 | c.176 others(34): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4130087 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18975.hp2 NA19060.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0072 a0001c0001t0001g0126 others(2): Show |
5 | 314 | 0.0159 | 17 | c.176 others(34): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 15/18 | chr11 | TogoVar | |||||||
RRP7A_chr22_42503344_42524796 | 42513388 | T | TGGTCACC others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0011a0003c0004t0044a0003c0004t0045others(8): Show | a0003c0004t0011g0027 a0003c0004t0011g0047 a0003c0004t0011g0210 others(13): Show |
22 | 386 | 0.0570 | 17 | c.758 others(32): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 6/6 | chr22 | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18669487 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 90 | 0.0111 | 17 | c.52+ others(32): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 1/5 | chrX | TogoVar | |||||||
RSAD1_chr17_50473860_50490974 | 50483189 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02615.hp2 others(3): Show |
a0001a0009 | a0001c0003a0009c0013 | a0001c0003t0003a0009c0013t0003 | a0001c0003t0003g0010 a0009c0013t0003g0010 |
6 | 42 | 0.1429 | 17 | c.905 others(32): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77725244 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02080.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0101 a0001c0001t0004g0004 a0001c0001t0004g0012 others(5): Show |
8 | 108 | 0.0741 | 17 | c.587 others(36): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77784318 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0115 | 1 | 84 | 0.0119 | 17 | c.*51 others(28): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1297 | chr7 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77658011 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG03579.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0300 a0001c0001t0004g0148 a0001c0001t0004g0150 |
3 | 8 | 0.3750 | 17 | c.*89 others(28): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1997 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77686408 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01168.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0002a0001c0001t0009a0002c0003t0002others(1): Show | a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0129 others(6): Show |
9 | 82 | 0.1098 | 17 | c.290 others(36): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77692233 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 129 | 0.0078 | 17 | c.282 others(35): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 8/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77729895 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0123 a0001c0001t0006g0125 a0001c0001t0006g0127 |
3 | 63 | 0.0476 | 17 | c.579 others(34): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6769754 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0034 | 1 | 42 | 0.0238 | 17 | c.957 others(33): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH9_chr6_43640036_43677600 | 43656037 | C | CTTCCTTC others(10): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 303 | 0.0033 | 17 | c.523 others(32): Show |
RSPH9 | ENSG00000172426.16 | transcript | ENST00000372163.5 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
RSPO3_chr6_127113671_127204481 | 127144643 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02145.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0011g0233 others(2): Show |
5 | 134 | 0.0373 | 17 | c.98- others(32): Show |
RSPO3 | ENSG00000146374.14 | transcript | ENST00000356698.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158106620 | A | AGAGAGAG others(10): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0196 a0001c0001t0018g0139 |
2 | 262 | 0.0076 | 17 | c.-36 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3468 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158316438 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0226 |
2 | 7 | 0.2857 | 17 | c.531 others(36): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158487949 | G | GGAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01981.hp2 HG02056.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0254 a0001c0001t0002g0071 a0001c0001t0002g0101 others(13): Show |
16 | 68 | 0.2353 | 17 | c.652 others(36): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158518148 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0039 | 1 | 96 | 0.0104 | 17 | c.653 others(36): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158518148 | A | ATATTTTT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0041 | 1 | 96 | 0.0104 | 17 | c.653 others(36): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158545193 | C | CTTTTTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01192.hp2 HG03492.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 a0001c0001t0008g0090 a0001c0001t0008g0094 others(7): Show |
10 | 142 | 0.0704 | 17 | c.*92 others(26): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 10/10 | 945 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158549512 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 NA18950.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0058 a0001c0001t0003g0121 a0001c0001t0004g0201 |
3 | 242 | 0.0124 | 17 | c.*52 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3783 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG01978.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0003g0042 a0001c0001t0003g0153 a0001c0001t0004g0256 others(3): Show |
6 | 133 | 0.0451 | 17 | c.*52 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01255.hp1 NA19000.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0005g0135 others(2): Show |
5 | 132 | 0.0379 | 17 | c.*52 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0193 a0001c0001t0011g0204 |
2 | 129 | 0.0155 | 17 | c.*52 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0200 | 1 | 128 | 0.0078 | 17 | c.*52 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAATTAT others(10): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 128 | 0.0078 | 17 | c.*52 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RTBDN_chr19_12820482_12839579 | 12833727 | C | CGCCCCTT others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02273.hp1 NA18945.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0041 others(1): Show |
14 | 428 | 0.0327 | 17 | c.-19 others(32): Show |
RTBDN | ENSG00000132026.15 | transcript | ENST00000674343.2 | protein_coding | 1/5 | chr19 | TogoVar |