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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEFB132_chr20_252724_266096 | 262841 | T | TCATAATT others(6): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 13 | c.*35 others(24): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1746 | chr20 | TogoVar | |||||||
DEFB134_chr8_11988174_12005752 | 11995958 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0118 | 1 | 285 | 0.0035 | 13 | c.58+ others(26): Show |
DEFB134 | ENSG00000205882.9 | transcript | ENST00000382205.6 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
DEK_chr6_18218860_18269530 | 18259394 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 95 | 0.0105 | 13 | c.146 others(29): Show |
DEK | ENSG00000124795.17 | transcript | ENST00000652689.1 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
DENND10_chr10_119099113_119142984 | 119115382 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(49): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(41): Show |
52 | 75 | 0.6933 | 13 | c.333 others(30): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DENND10_chr10_119099113_119142984 | 119135791 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00621.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(40): Show |
51 | 54 | 0.9444 | 13 | c.898 others(28): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123378798 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0144 | 1 | 88 | 0.0114 | 13 | c.*26 others(24): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 859 | chr9 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123516884 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0051 a0001c0001t0003g0069 |
2 | 3 | 0.6667 | 13 | c.993 others(32): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 13/23 | chr9 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123728479 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03540.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0012a0001c0002t0001a0001c0006t0011 | a0001c0001t0012g0127 a0001c0002t0001g0091 a0001c0006t0011g0160 |
3 | 30 | 0.1000 | 13 | c.302 others(32): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 5/23 | chr9 | TogoVar | |||||||
DENND1A_chr9_123374658_123935126 | 123845670 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp2 HG03471.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(4): Show |
7 | 66 | 0.1061 | 13 | c.88+ others(30): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 2/23 | chr9 | TogoVar | |||||||
DENND1B_chr1_197499748_197780480 | 197758960 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0070 | 1 | 132 | 0.0076 | 13 | c.82+ others(30): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
DENND2A_chr7_140513420_140645813 | 140534081 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG01169.hp1 others(19): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0009a0002c0016others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(7): Show | a0002c0002t0001g0119 a0002c0002t0001g0132 a0002c0002t0002g0033 others(19): Show |
22 | 35 | 0.6286 | 13 | c.232 others(32): Show |
DENND2A | ENSG00000146966.13 | transcript | ENST00000496613.6 | protein_coding | 14/19 | chr7 | TogoVar | |||||||
DENND2B_chr11_8688352_8815674 | 8713103 | A | ACTTGAGC others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(216): Show |
219 | 349 | 0.6275 | 13 | c.198 others(30): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
DENND2B_chr11_8688352_8815674 | 8768398 | A | AACCATAG others(6): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0207 | 1 | 350 | 0.0029 | 13 | c.-25 others(32): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
DENND2B_chr11_8688352_8815674 | 8776172 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0207 | 1 | 350 | 0.0029 | 13 | c.-25 others(32): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
DENND2B_chr11_8688352_8815674 | 8806605 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0170 | 1 | 25 | 0.0400 | 13 | c.-26 others(30): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
DENND4A_chr15_65654123_65797293 | 65709719 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0083 |
2 | 117 | 0.0171 | 13 | c.195 others(32): Show |
DENND4A | ENSG00000174485.16 | transcript | ENST00000443035.8 | protein_coding | 14/32 | chr15 | TogoVar | |||||||
DENND4A_chr15_65654123_65797293 | 65709719 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0087 |
3 | 118 | 0.0254 | 13 | c.195 others(32): Show |
DENND4A | ENSG00000174485.16 | transcript | ENST00000443035.8 | protein_coding | 14/32 | chr15 | TogoVar | |||||||
DENND4A_chr15_65654123_65797293 | 65709719 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 116 | 0.0086 | 13 | c.195 others(32): Show |
DENND4A | ENSG00000174485.16 | transcript | ENST00000443035.8 | protein_coding | 14/32 | chr15 | TogoVar | |||||||
DENND4B_chr1_153924501_153951718 | 153944088 | C | CCCCTGCG others(6): Show |
frameshift_variant | HIGH | NA18967.hp1 | a0006 | a0006c0021 | a0006c0021t0001 | a0006c0021t0001g0094 | 1 | 384 | 0.0026 | 13 | c.274 others(20): Show |
p.Gly others(4): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 2/28 | 727/5728 | 286/4491 | 96/1496 | chr1 | TogoVar | |||
DENND4C_chr9_19225693_19379281 | 19245632 | G | GGATCACG others(6): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0101 | 1 | 290 | 0.0034 | 13 | c.-18 others(32): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DENND4C_chr9_19225693_19379281 | 19262448 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG02717.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0001c0001t0010a0006c0007t0022 | a0001c0001t0002g0143 a0001c0001t0010g0274 a0006c0007t0022g0142 |
3 | 205 | 0.0146 | 13 | c.-17 others(32): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DENND5A_chr11_9133825_9270350 | 9164194 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 11 | 0.0909 | 13 | c.228 others(32): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 11/22 | chr11 | TogoVar | |||||||
DENND5A_chr11_9133825_9270350 | 9213808 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(108): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(108): Show |
111 | 113 | 0.9823 | 13 | c.110 others(30): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
DENND5A_chr11_9133825_9270350 | 9231715 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG02109.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0004t0003others(1): Show | a0001c0001t0001g0150 a0001c0001t0005g0149 a0001c0004t0003g0035 others(6): Show |
9 | 104 | 0.0865 | 13 | c.110 others(32): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31449731 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0304 a0001c0001t0011g0308 |
2 | 138 | 0.0145 | 13 | c.163 others(32): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31545950 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0005a0001c0016t0039 | a0001c0001t0005g0028 a0001c0001t0005g0033 a0001c0016t0039g0239 |
3 | 34 | 0.0882 | 13 | c.127 others(32): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50307806 | G | GGGGGAGG others(6): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0016 | 1 | 324 | 0.0031 | 13 | c.*43 others(24): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 1223 | chr22 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50307812 | G | GGGGGGAG others(6): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0095 | 1 | 321 | 0.0031 | 13 | c.*43 others(24): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 1217 | chr22 | TogoVar | |||||||
DENR_chr12_122747824_122776064 | 122750627 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0001 |
6 | 84 | 0.0714 | 13 | c.-23 others(24): Show |
DENR | ENSG00000139726.11 | transcript | ENST00000280557.11 | protein_coding | 2196 | chr12 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60604218 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG02129.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0175 a0001c0001t0001g0177 others(17): Show |
20 | 142 | 0.1408 | 13 | c.106 others(30): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 8/10 | chr5 | TogoVar | |||||||
DEPDC1_chr1_68469152_68502082 | 68480251 | A | AACACCAC others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 253 | 0.0040 | 13 | c.193 others(30): Show |
DEPDC1 | ENSG00000024526.17 | transcript | ENST00000456315.7 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
DEPDC5_chr22_31749019_31913033 | 31879043 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0199 | 1 | 158 | 0.0063 | 13 | c.380 others(30): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 37/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC7_chr11_33010878_33038582 | 33038139 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 163 | 0.0061 | 13 | c.*46 others(24): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 4558 | chr11 | TogoVar | |||||||
DEPDC7_chr11_33010878_33038582 | 33038153 | T | TTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 369 | 0.0027 | 13 | c.*46 others(24): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 4572 | chr11 | TogoVar | |||||||
DEPTOR_chr8_119868722_120055918 | 119887127 | T | TCCCCCTC others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0006 | a0006c0009 | a0006c0009t0012 | a0006c0009t0012g0081 | 1 | 179 | 0.0056 | 13 | c.122 others(32): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 119900380 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01515.hp1 HG01517.hp2 others(2): Show |
a0002a0004a0005 | a0002c0001a0004c0010a0005c0007 | a0002c0001t0010a0004c0010t0001a0005c0007t0001 | a0002c0001t0010g0022 a0002c0001t0010g0023 a0004c0010t0001g0063 others(2): Show |
5 | 18 | 0.2778 | 13 | c.122 others(32): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120002791 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0028 | 1 | 42 | 0.0238 | 13 | c.791 others(28): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120002791 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0010 | 1 | 42 | 0.0238 | 13 | c.791 others(28): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120022157 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00735.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0012others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0053 a0001c0002t0001g0069 a0001c0002t0001g0096 others(27): Show |
30 | 122 | 0.2459 | 13 | c.110 others(34): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120027234 | A | ATAATAAT others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 33 | 0.0303 | 13 | c.110 others(34): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
DERL3_chr22_23829503_23844006 | 23839391 | A | AGGGCGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(120): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0023a0001c0004t0003others(9): Show | a0001c0001t0003g0004 a0001c0001t0023g0040 a0001c0004t0003g0016 others(13): Show |
123 | 423 | 0.2908 | 13 | c.-40 others(22): Show |
DERL3 | ENSG00000099958.15 | transcript | ENST00000318109.12 | protein_coding | 386 | chr22 | TogoVar | |||||||
DESI1_chr22_41593028_41626043 | 41594338 | T | TGGGGGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 238 | 0.0042 | 13 | c.*67 others(24): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 3689 | chr22 | TogoVar | |||||||
DESI1_chr22_41593028_41626043 | 41594450 | T | TGGGGGGG others(6): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0201 a0001c0001t0004g0203 others(1): Show |
4 | 288 | 0.0139 | 13 | c.*66 others(24): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 3577 | chr22 | TogoVar | |||||||
DESI1_chr22_41593028_41626043 | 41614590 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01261.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(14): Show |
18 | 69 | 0.2609 | 13 | c.88+ others(28): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
DESI2_chr1_244648126_244714033 | 244699578 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 23 | 0.0435 | 13 | c.352 others(30): Show |
DESI2 | ENSG00000121644.19 | transcript | ENST00000302550.16 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DES_chr2_219413377_219431734 | 219418432 | T | TGCGCCCG others(6): Show |
5_prime_UTR_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02896.hp2 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0004 a0001c0004t0002g0034 |
10 | 374 | 0.0267 | 13 | c.-30 others(20): Show |
DES | ENSG00000175084.13 | transcript | ENST00000373960.4 | protein_coding | 1/9 | 17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DES_chr2_219413377_219431734 | 219422463 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 14 | 0.2857 | 13 | c.124 others(30): Show |
DES | ENSG00000175084.13 | transcript | ENST00000373960.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88515538 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 157 | 0.0064 | 13 | c.146 others(32): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 4/4 | chr15 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88522512 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00733.hp1 others(88): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0030 others(70): Show |
91 | 177 | 0.5141 | 13 | c.127 others(32): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
DFFB_chr1_3852476_3890429 | 3855555 | T | TACTGGCA others(6): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0238 | 1 | 402 | 0.0025 | 13 | c.-20 others(24): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 1920 | chr1 | TogoVar |