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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPSA2_chr19_23758004_23833868 | 23759522 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(232): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(99): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0245 others(230): Show |
235 | 242 | 0.9711 | 7 | c.-39 others(18): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3481 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23789019 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01257.hp2 HG01361.hp2 others(18): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0012a0001c0001t0023a0001c0001t0046others(10): Show | a0001c0001t0012g0207 a0001c0001t0012g0210 a0001c0001t0012g0213 others(17): Show |
21 | 115 | 0.1826 | 7 | c.-30 others(28): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23789020 | T | TTTTTTTC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp2 others(53): Show |
a0001a0011a0015 | a0001c0001a0011c0016a0015c0011 | a0001c0001t0004a0001c0001t0007a0001c0001t0015others(19): Show | a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0021 others(53): Show |
56 | 364 | 0.1538 | 7 | c.-30 others(28): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23812388 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp2 others(121): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(63): Show | a0001c0001t0001g0305 a0001c0001t0001g0342 a0001c0001t0004g0001 others(119): Show |
124 | 127 | 0.9764 | 7 | c.-93 others(24): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23813730 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(321): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(135): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0245 others(317): Show |
324 | 332 | 0.9759 | 7 | c.-93 others(24): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA_chr3_39401720_39417542 | 39409184 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00735.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0033 |
31 | 87 | 0.3563 | 7 | c.252 others(22): Show |
RPSA | ENSG00000168028.15 | transcript | ENST00000301821.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80685628 | T | TATATATA | intron_variant | MODIFIER | HG02109.hp1 NA18522.hp1 |
a0001 | a0001c0005a0001c0067 | a0001c0005t0067a0001c0067t0068 | a0001c0005t0067g0111 a0001c0067t0068g0110 |
2 | 183 | 0.0109 | 7 | c.349 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80711744 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(32): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(24): Show | a0001c0002t0015a0001c0002t0039a0001c0002t0040others(31): Show | a0001c0002t0015g0089 a0001c0002t0039g0091 a0001c0002t0040g0108 others(32): Show |
35 | 87 | 0.4023 | 7 | c.507 others(24): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRAGC_chr1_38833198_38864772 | 38836551 | A | AAACAAAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0029 others(11): Show |
32 | 409 | 0.0782 | 7 | c.*30 others(18): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 1646 | chr1 | TogoVar | |||||||
RRAGC_chr1_38833198_38864772 | 38836556 | A | AACAAAAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(22): Show |
74 | 410 | 0.1805 | 7 | c.*29 others(18): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 1641 | chr1 | TogoVar | |||||||
RRBP1_chr20_17608679_17687242 | 17681886 | C | CGGCGGCA | intron_variant | MODIFIER | HG02486.hp2 HG03098.hp2 NA19240.hp2 |
a0030a0050 | a0030c0058a0030c0059a0050c0070 | a0030c0058t0006a0030c0059t0006a0050c0070t0002 | a0030c0058t0006g0017 a0030c0059t0006g0018 a0050c0070t0002g0322 |
3 | 348 | 0.0086 | 7 | c.-99 others(22): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 1/24 | chr20 | TogoVar | |||||||
RRBP1_chr20_17608679_17687242 | 17681893 | A | AGGCGGCG | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01192.hp1 others(21): Show |
a0003a0027a0037 | a0003c0003a0003c0018a0003c0126others(3): Show | a0003c0003t0003a0003c0003t0010a0003c0018t0002others(4): Show | a0003c0003t0003g0001 a0003c0003t0003g0029 a0003c0003t0003g0031 others(17): Show |
24 | 348 | 0.0690 | 7 | c.-99 others(22): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 1/24 | chr20 | TogoVar | |||||||
RRM1_chr11_4089799_4143932 | 4099295 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(135): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 others(115): Show |
138 | 160 | 0.8625 | 7 | c.20- others(22): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4101557 | A | ACCCCCCC | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01074.hp1 others(19): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0010others(1): Show | a0001c0001t0001a0001c0005t0001a0003c0010t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0125 a0001c0001t0001g0126 others(18): Show |
22 | 261 | 0.0843 | 7 | c.20- others(20): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4101565 | C | CCCCCCCG | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG01358.hp1 others(12): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0006 a0001c0003t0002g0172 a0001c0003t0002g0247 others(11): Show |
15 | 338 | 0.0444 | 7 | c.20- others(20): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4133980 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 others(6): Show |
9 | 71 | 0.1268 | 7 | c.200 others(24): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRM2B_chr8_102199502_102243961 | 102237004 | A | AGTATTTT | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 384 | 0.0104 | 7 | c.48+ others(22): Show |
RRM2B | ENSG00000048392.13 | transcript | ENST00000251810.8 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
RRP12_chr10_97351701_97406340 | 97387941 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0001 | a0001c0006t0001g0213 a0001c0006t0001g0245 a0001c0006t0001g0246 others(5): Show |
8 | 60 | 0.1333 | 7 | c.101 others(24): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 8/33 | chr10 | TogoVar | |||||||
RRP36_chr6_43016623_43034599 | 43023337 | T | TGCAGTGA | intron_variant | MODIFIER | HG02258.hp1 HG03516.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 a0002c0002t0001g0106 |
3 | 332 | 0.0090 | 7 | c.130 others(24): Show |
RRP36 | ENSG00000124541.7 | transcript | ENST00000244496.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRP7A_chr22_42503344_42524796 | 42507086 | A | ATTATTAT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01516.hp1 HG01517.hp1 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0004 | a0001c0003t0036a0002c0001t0091a0003c0004t0044 | a0001c0003t0036g0052 a0002c0001t0091g0115 a0003c0004t0044g0046 |
4 | 338 | 0.0118 | 7 | c.*58 others(18): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 1257 | chr22 | TogoVar | |||||||
RSAD1_chr17_50473860_50490974 | 50483189 | A | AAAAAAAG | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00738.hp2 others(46): Show |
a0001a0010a0013 | a0001c0003a0010c0012a0013c0011 | a0001c0003t0002a0001c0003t0004a0001c0003t0007others(3): Show | a0001c0003t0002g0003 a0001c0003t0002g0032 a0001c0003t0002g0034 others(5): Show |
49 | 85 | 0.5765 | 7 | c.905 others(22): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77739739 | C | CTTTTTTT | intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0003g0155 a0001c0001t0004g0011 a0001c0001t0004g0019 others(5): Show |
8 | 34 | 0.2353 | 7 | c.703 others(24): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77742180 | A | ATACACAC | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG00741.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0058 others(62): Show |
65 | 212 | 0.3066 | 7 | c.703 others(24): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77658011 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00609.hp2 HG02027.hp2 HG02135.hp2 others(5): Show |
a0001a0011 | a0001c0001a0011c0018 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(2): Show | a0001c0001t0001g0307 a0001c0001t0001g0327 a0001c0001t0001g0330 others(5): Show |
8 | 13 | 0.6154 | 7 | c.*89 others(18): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1997 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77692233 | A | ATTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp1 HG02622.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0126 others(9): Show |
12 | 140 | 0.0857 | 7 | c.282 others(25): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 8/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77761828 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG02071.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0016a0001c0002t0018others(2): Show | a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 others(16): Show |
19 | 22 | 0.8636 | 7 | c.279 others(24): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77762022 | C | CTTTTCTT | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG01517.hp1 others(20): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(11): Show | a0001c0001t0004g0157 a0001c0001t0005g0252 a0001c0001t0005g0254 others(20): Show |
23 | 350 | 0.0657 | 7 | c.279 others(24): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77762027 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG02071.hp1 HG02080.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003a0001c0002t0017 | a0001c0001t0005g0038 a0001c0002t0003g0036 a0001c0002t0003g0043 others(5): Show |
8 | 164 | 0.0488 | 7 | c.279 others(24): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
RSL1D1_chr16_11828850_11856542 | 11853412 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01192.hp2 others(39): Show |
a0001a0009a0010 | a0001c0001a0001c0002a0009c0011others(1): Show | a0001c0001t0004a0001c0001t0016a0001c0001t0024others(6): Show | a0001c0001t0004g0003 a0001c0001t0004g0014 a0001c0001t0004g0019 others(18): Show |
42 | 268 | 0.1567 | 7 | c.-19 others(18): Show |
RSL1D1 | ENSG00000171490.13 | transcript | ENST00000571133.6 | protein_coding | 1871 | chr16 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6768092 | T | TGAGGTGG | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(52): Show |
a0001a0002a0003others(9): Show | a0001c0024a0002c0005a0002c0006others(20): Show | a0001c0024t0006a0002c0005t0001a0002c0006t0001others(22): Show | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0005t0001g0022 others(52): Show |
55 | 108 | 0.5093 | 7 | c.781 others(22): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6781869 | A | AAAAATAT | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG02602.hp2 others(2): Show |
a0002a0003 | a0002c0006a0003c0007a0003c0015 | a0002c0006t0001a0003c0007t0004a0003c0015t0001 | a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0074 others(2): Show |
5 | 85 | 0.0588 | 7 | c.175 others(24): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6781869 | A | AAATATAT | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02622.hp2 others(3): Show |
a0002a0003a0015 | a0002c0005a0002c0025a0003c0004others(2): Show | a0002c0005t0001a0002c0025t0001a0003c0004t0001others(3): Show | a0002c0005t0001g0029 a0002c0025t0001g0108 a0003c0004t0001g0002 others(3): Show |
6 | 86 | 0.0698 | 7 | c.175 others(24): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6785192 | T | TGTGTGTG | intron_variant | MODIFIER | HG02970.hp1 HG02970.hp2 |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0002a0005c0009t0003 | a0002c0002t0002g0058 a0005c0009t0003g0090 |
2 | 108 | 0.0185 | 7 | c.175 others(24): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | chr7 | TogoVar | |||||||
RSPH14_chr22_23054415_23146990 | 23070353 | T | TGGCGGCG | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(122): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 others(120): Show |
125 | 284 | 0.4401 | 7 | c.422 others(24): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 107906343 | G | GTATTTTA | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 a0001c0001t0002g0130 |
2 | 238 | 0.0084 | 7 | c.617 others(24): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 107951042 | A | AGTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG03239.hp1 NA20752.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 a0002c0002t0001g0097 a0002c0002t0001g0180 |
3 | 238 | 0.0126 | 7 | c.616 others(24): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 107951043 | G | GTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01069.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0069 a0001c0001t0002g0022 a0001c0001t0002g0059 others(45): Show |
48 | 206 | 0.2330 | 7 | c.616 others(24): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 107963522 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01169.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0039 a0001c0001t0001g0210 a0001c0001t0002g0022 others(13): Show |
16 | 47 | 0.3404 | 7 | c.284 others(24): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 108057055 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01257.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0014 | a0001c0001t0002g0154 a0001c0001t0002g0193 a0001c0001t0002g0201 others(2): Show |
5 | 31 | 0.1613 | 7 | c.94+ others(24): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158107689 | A | ACCCCCCC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(105): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0052 others(105): Show |
108 | 125 | 0.8640 | 7 | c.-25 others(18): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 2399 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158374752 | C | CATTTTGA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(166): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0195 others(166): Show |
169 | 274 | 0.6168 | 7 | c.583 others(26): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158487949 | G | GGAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00609.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0022 a0001c0001t0002g0251 a0001c0001t0004g0038 others(18): Show |
21 | 73 | 0.2877 | 7 | c.652 others(26): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16654361 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0028others(9): Show | a0001c0001t0004g0075 a0001c0001t0011g0030 a0001c0001t0028g0008 others(9): Show |
12 | 89 | 0.1348 | 7 | c.731 others(26): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16660645 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01192.hp2 HG01257.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0151 a0001c0001t0002g0065 a0001c0001t0004g0035 others(46): Show |
49 | 74 | 0.6622 | 7 | c.731 others(26): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16772641 | G | GAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0017others(4): Show | a0001c0001t0004g0062 a0001c0001t0004g0075 a0001c0001t0005g0112 others(5): Show |
8 | 104 | 0.0769 | 7 | c.161 others(24): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
RTCB_chr22_32382582_32417247 | 32400317 | A | AGGTACAC | intron_variant | MODIFIER | HG01255.hp2 HG02080.hp2 NA18952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0122 a0001c0001t0001g0123 |
5 | 436 | 0.0115 | 7 | c.498 others(22): Show |
RTCB | ENSG00000100220.12 | transcript | ENST00000216038.6 | protein_coding | 5/11 | chr22 | TogoVar | |||||||
RTL10_chr22_19841146_19859874 | 19847803 | G | GAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0100 | a0001c0001t0022g0025 a0001c0001t0100g0117 |
4 | 371 | 0.0108 | 7 | c.*33 others(18): Show |
RTL10 | ENSG00000215012.9 | transcript | ENST00000328554.9 | protein_coding | 3/3 | 3363 | chr22 | TogoVar | ||||||
RTL10_chr22_19841146_19859874 | 19847803 | G | GGAAAAAA | 3_prime_UTR_variant | MODIFIER | HG03195.hp2 HG03516.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0075 | a0001c0001t0037g0042 a0001c0001t0075g0089 |
3 | 370 | 0.0081 | 7 | c.*33 others(18): Show |
RTL10 | ENSG00000215012.9 | transcript | ENST00000328554.9 | protein_coding | 3/3 | 3363 | chr22 | TogoVar | ||||||
RTL1_chr14_100874753_100908722 | 100905146 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01346.hp1 HG02280.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0384 others(5): Show |
8 | 33 | 0.2424 | 7 | c.-17 others(18): Show |
RTL1 | ENSG00000254656.3 | transcript | ENST00000649591.1 | protein_coding | 1425 | chr14 | TogoVar | |||||||
RTL6_chr22_44487583_44503233 | 44498609 | A | ATTGTGAT | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0024 | a0001c0001t0013g0013 a0001c0001t0024g0025 |
6 | 210 | 0.0286 | 7 | c.-82 others(16): Show |
RTL6 | ENSG00000188636.4 | transcript | ENST00000341255.4 | protein_coding | 377 | chr22 | TogoVar |