| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DNAH9_chr17_11593470_11974748 | 11851094 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
a0011a0018a0019others(6): Show | a0011c0035a0018c0149a0019c0017others(6): Show | a0011c0035t0001a0018c0149t0001a0019c0017t0001others(6): Show | a0011c0035t0001g0078a0018c0149t0001g0011a0019c0017t0001g0014others(6): Show | 9 | 178 | 0.0506 | -9 | c.950 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAH9_chr17_11593470_11974748 | 11877473 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02486.hp1 others(5): Show |
a0017a0020a0034others(4): Show | a0017c0021a0017c0086a0020c0026others(5): Show | a0017c0021t0001a0017c0086t0001a0020c0026t0001others(5): Show | a0017c0021t0001g0003a0017c0086t0001g0097a0020c0026t0001g0164others(5): Show | 8 | 178 | 0.0449 | -9 | c.104 others(30): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 53/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAH9_chr17_11593470_11974748 | 11893437 | CAAAGACT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(89): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0003a0001c0012others(78): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(78): Show | a0001c0001t0001g0032a0001c0001t0001g0124a0001c0003t0001g0170others(89): Show | 92 | 178 | 0.5169 | -9 | c.112 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 58/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI1_chr9_34453805_34525984 | 34473273 | CTTATTAT others(2): Show |
C | intron_variant | MODIFIER | NA18944.hp2 NA19063.hp1 NA19065.hp1 |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0001a0011c0015t0001 | a0001c0001t0001g0257a0001c0001t0001g0258a0011c0015t0001g0259 | 3 | 382 | 0.0079 | -9 | c.49- others(26): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DNAI2_chr17_74269234_74319884 | 74286297 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01168.hp1 others(25): Show |
a0001a0002a0015 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0002g0300a0001c0002t0001g0112a0001c0002t0003g0280others(22): Show | 28 | 398 | 0.0704 | -9 | c.346 others(24): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI3_chr1_85057327_85138138 | 85103888 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(161): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0017others(158): Show | 164 | 374 | 0.4385 | -9 | c.148 others(26): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAI7_chr12_25103289_25200160 | 25113279 | CTGTTGTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01070.hp1 others(54): Show |
a0002a0004a0012 | a0002c0002a0004c0004a0012c0009 | a0002c0002t0001a0004c0004t0001a0012c0009t0001 | a0002c0002t0001g0003a0002c0002t0001g0113a0002c0002t0001g0235others(53): Show | 57 | 336 | 0.1696 | -9 | c.161 others(28): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 13/15 | chr12 | TogoVar | ||||||
| DNAJB13_chr11_73946026_73975281 | 73954000 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0051others(8): Show | 13 | 436 | 0.0298 | -9 | c.68+ others(24): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DNAJB1_chr19_14509769_14523397 | 14521456 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02809.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 4 | 350 | 0.0114 | -9 | c.-31 others(20): Show |
DNAJB1 | ENSG00000132002.9 | transcript | ENST00000254322.3 | protein_coding | 3060 | chr19 | TogoVar | ||||||
| DNAJB7_chr22_40854549_40867113 | 40858303 | TGCCACGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(17): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0005a0001c0001t0016a0004c0004t0005others(1): Show | a0001c0001t0005g0000a0001c0001t0016g0000a0004c0004t0005g0000others(1): Show | 20 | 410 | 0.0488 | -9 | c.*27 others(20): Show |
DNAJB7 | ENSG00000172404.5 | transcript | ENST00000307221.5 | protein_coding | 1245 | chr22 | TogoVar | ||||||
| DNAJC13_chr3_132412502_132544032 | 132460842 | TCCTTTTG others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02280.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0301a0001c0001t0002g0131a0001c0001t0002g0132others(14): Show | 17 | 318 | 0.0535 | -9 | c.155 others(26): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 14/55 | chr3 | TogoVar | ||||||
| DNAJC13_chr3_132412502_132544032 | 132469963 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01168.hp1 others(16): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0019a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0056a0001c0001t0002g0055a0001c0001t0002g0058others(16): Show | 19 | 318 | 0.0598 | -9 | c.220 others(28): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DNAJC13_chr3_132412502_132544032 | 132486082 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG03491.hp2 HG03492.hp2 others(4): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0011 | a0001c0001t0001a0001c0003t0001a0009c0011t0006 | a0001c0001t0001g0078a0001c0001t0001g0096a0001c0003t0001g0233others(4): Show | 7 | 318 | 0.0220 | -9 | c.326 others(28): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DNAJC13_chr3_132412502_132544032 | 132506045 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0010others(4): Show | 7 | 318 | 0.0220 | -9 | c.499 others(26): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DNAJC15_chr13_43018586_43119213 | 43053678 | TGTAAAAG others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00733.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0011a0001c0001t0046a0001c0001t0047others(11): Show | a0001c0001t0011g0084a0001c0001t0011g0114a0001c0001t0011g0122others(24): Show | 28 | 352 | 0.0796 | -9 | c.109 others(28): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DNAJC16_chr1_15521848_15576733 | 15536063 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01071.hp1 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011a0001c0002t0013 | a0001c0002t0003g0125a0001c0002t0003g0135a0001c0002t0003g0136others(30): Show | 33 | 356 | 0.0927 | -9 | c.235 others(24): Show |
DNAJC16 | ENSG00000116138.13 | transcript | ENST00000375847.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAJC22_chr12_49341888_49358690 | 49343737 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01123.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0002g0009others(2): Show | 9 | 362 | 0.0249 | -9 | c.-43 others(20): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 3150 | chr12 | TogoVar | ||||||
| DNAJC27_chr2_24938642_24976955 | 24960163 | CACTTATA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0024a0001c0002t0026 | a0001c0002t0004g0055a0001c0002t0004g0056a0001c0002t0004g0057others(2): Show | 5 | 382 | 0.0131 | -9 | c.241 others(26): Show |
DNAJC27 | ENSG00000115137.12 | transcript | ENST00000264711.7 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
| DNAJC3_chr13_95672139_95799988 | 95722815 | GCCCCCCC others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(17): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0335a0001c0001t0002g0010a0001c0001t0002g0090others(17): Show | 20 | 374 | 0.0535 | -9 | c.194 others(24): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| DNAJC8_chr1_28195278_28238029 | 28227104 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0181a0001c0001t0002g0182others(4): Show | 12 | 250 | 0.0480 | -9 | c.180 others(26): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| DNAL1_chr14_73639986_73708732 | 73682337 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0020a0001c0001t0101others(2): Show | a0001c0001t0016g0320a0001c0001t0016g0321a0001c0001t0016g0322others(9): Show | 12 | 340 | 0.0353 | -9 | c.265 others(26): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| DNASE1L1_chrX_154396236_154414254 | 154407218 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0078 | 1 | 279 | 0.0036 | -9 | c.-87 others(26): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| DNER_chr2_229352629_229719555 | 229554932 | GAAGAGAG others(2): Show |
G | intron_variant | MODIFIER | NA19007.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0086 | 2 | 176 | 0.0114 | -9 | c.848 others(26): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
| DNER_chr2_229352629_229719555 | 229625883 | TTTGTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01071.hp2 others(38): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(38): Show | 41 | 176 | 0.2330 | -9 | c.277 others(28): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| DNHD1_chr11_6492280_6577020 | 6517652 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01070.hp1 others(7): Show |
a0002a0008a0009others(3): Show | a0002c0002a0008c0005a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0005a0008c0005t0001others(4): Show | a0002c0002t0001g0274a0002c0002t0001g0316a0002c0002t0005g0275others(7): Show | 10 | 342 | 0.0292 | -9 | c.139 others(28): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 7/42 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DNM1L_chr12_32674301_32750650 | 32678257 | ATTTATTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01891.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0008a0001c0001t0004g0009a0001c0001t0004g0011others(2): Show | 5 | 230 | 0.0217 | -9 | c.-11 others(20): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1043 | chr12 | TogoVar | ||||||
| DNM1L_chr12_32674301_32750650 | 32724590 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0017a0001c0003t0007a0001c0003t0018 | a0001c0002t0017g0024a0001c0003t0007g0210a0001c0003t0007g0212others(3): Show | 6 | 230 | 0.0261 | -9 | c.107 others(28): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DNM1L_chr12_32674301_32750650 | 32727195 | TAGTAATC others(2): Show |
T | intron_variant | MODIFIER | HG03704.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0089a0001c0001t0003g0130 | 2 | 230 | 0.0087 | -9 | c.108 others(28): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DNM2_chr19_10713079_10836903 | 10758498 | CTTCCTCC others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0095a0001c0001t0001g0102a0001c0001t0001g0136others(13): Show | 16 | 278 | 0.0576 | -9 | c.162 others(26): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DNM3_chr1_171836498_172417717 | 172032526 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0010others(1): Show | a0001c0001t0003g0097a0001c0002t0001g0094a0001c0002t0001g0111others(4): Show | 7 | 136 | 0.0515 | -9 | c.688 others(22): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNM3_chr1_171836498_172417717 | 172127385 | CTTATTAT others(2): Show |
C | intron_variant | MODIFIER | HG03239.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0033 | a0001c0001t0008g0095a0001c0001t0033g0096 | 2 | 136 | 0.0147 | -9 | c.154 others(28): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNM3_chr1_171836498_172417717 | 172135663 | GATGTGAG others(2): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG02293.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0064a0001c0001t0002g0070a0001c0001t0003g0029others(1): Show | 4 | 136 | 0.0294 | -9 | c.165 others(28): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | chr1 | TogoVar | ||||||
| DNM3_chr1_171836498_172417717 | 172183767 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02080.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0037a0001c0001t0001g0100a0001c0001t0002g0079others(26): Show | 29 | 136 | 0.2132 | -9 | c.165 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNM3_chr1_171836498_172417717 | 172197522 | AATTCTTC others(2): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0030a0001c0001t0001g0086a0001c0001t0025g0038 | 3 | 136 | 0.0221 | -9 | c.166 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNMBP_chr10_99870577_100014947 | 100001233 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(10): Show | a0001c0001t0002g0226a0001c0001t0003g0210a0001c0003t0002g0174others(39): Show | 42 | 274 | 0.1533 | -9 | c.-11 others(26): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
| DNMT1_chr19_10128346_10199953 | 10152160 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01515.hp2 HG02109.hp1 others(8): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0246others(7): Show | 11 | 386 | 0.0285 | -9 | c.202 others(26): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 22/40 | chr19 | TogoVar | ||||||
| DNMT1_chr19_10128346_10199953 | 10164913 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp2 NA18954.hp2 NA18956.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0125a0001c0001t0001g0212others(4): Show | 7 | 386 | 0.0181 | -9 | c.892 others(26): Show |
DNMT1 | ENSG00000130816.17 | transcript | ENST00000359526.9 | protein_coding | 11/40 | chr19 | TogoVar | ||||||
| DNMT3A_chr2_25222874_25346925 | 25284645 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01081.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0148a0001c0001t0002g0117a0001c0001t0003g0140others(40): Show | 43 | 294 | 0.1463 | -9 | c.178 others(26): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 3/22 | chr2 | TogoVar | ||||||
| DNMT3B_chr20_32757385_32814356 | 32811000 | ACCTCCCC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01358.hp1 HG01884.hp2 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0105a0001c0001t0001g0109others(12): Show | 17 | 298 | 0.0571 | -9 | c.*30 others(20): Show |
DNMT3B | ENSG00000088305.19 | transcript | ENST00000328111.6 | protein_coding | 1645 | chr20 | TogoVar | ||||||
| DNTTIP1_chr20_45786954_45816418 | 45791173 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02965.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0027a0001c0004t0002g0211a0001c0004t0002g0212others(2): Show | 6 | 412 | 0.0146 | -9 | c.-83 others(18): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 780 | chr20 | TogoVar | ||||||
| DNTTIP1_chr20_45786954_45816418 | 45800695 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02300.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041a0001c0001t0001g0113a0001c0001t0001g0116others(3): Show | 7 | 412 | 0.0170 | -9 | c.373 others(24): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
| DNTTIP1_chr20_45786954_45816418 | 45810567 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01243.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0010a0001c0001t0002g0011others(23): Show | 52 | 412 | 0.1262 | -9 | c.796 others(24): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| DNTTIP2_chr1_93861284_93884206 | 93879787 | TTTGTTGT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp2 NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0019 | 3 | 374 | 0.0080 | -9 | c.-64 others(18): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 582 | chr1 | TogoVar | ||||||
| DOCK10_chr2_224760090_225047468 | 224917101 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(32): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0051a0001c0001t0001g0144a0001c0001t0002g0085others(32): Show | 35 | 172 | 0.2035 | -9 | c.244 others(24): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar | ||||||
| DOCK10_chr2_224760090_225047468 | 224921092 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01175.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0095a0001c0001t0002g0100a0001c0001t0002g0147others(9): Show | 12 | 172 | 0.0698 | -9 | c.244 others(26): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar | ||||||
| DOCK10_chr2_224760090_225047468 | 224990590 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02559.hp1 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(11): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(12): Show | a0001c0001t0001g0074a0001c0001t0001g0164a0002c0002t0001g0064others(18): Show | 21 | 172 | 0.1221 | -9 | c.123 others(28): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 1/55 | chr2 | TogoVar | ||||||
| DOCK11_chrX_118490815_118691147 | 118506938 | TAGTGCAC others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0027 | 1 | 211 | 0.0047 | -9 | c.102 others(28): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DOCK11_chrX_118490815_118691147 | 118544645 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03225.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0166others(1): Show | 4 | 211 | 0.0190 | -9 | c.393 others(24): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DOCK11_chrX_118490815_118691147 | 118581805 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 HG03834.hp2 others(4): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0106a0001c0001t0001g0114a0001c0001t0001g0202others(4): Show | 7 | 211 | 0.0332 | -9 | c.159 others(28): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 14/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DOCK11_chrX_118490815_118691147 | 118648582 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01123.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0010others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0010t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0033others(14): Show | 17 | 211 | 0.0806 | -9 | c.439 others(26): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 40/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar |