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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 NA18991.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0006 | a0002c0002t0002g0274 a0003c0003t0006g0184 |
2 | 82 | 0.0244 | 33 | c.*51 others(44): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0323 | 1 | 81 | 0.0123 | 33 | c.*51 others(44): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0273 | 1 | 81 | 0.0123 | 33 | c.*51 others(44): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp1 NA18956.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0058 a0002c0002t0002g0254 a0002c0002t0002g0268 others(1): Show |
4 | 84 | 0.0476 | 33 | c.*51 others(44): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAT others(26): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 NA18957.hp1 NA19012.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0251 a0002c0002t0002g0261 a0002c0002t0002g0307 |
3 | 83 | 0.0361 | 33 | c.*51 others(44): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13297282 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02738.hp2 HG03492.hp2 |
a0001a0002a0006 | a0001c0004a0002c0020a0006c0007 | a0001c0004t0003a0002c0020t0002a0006c0007t0001 | a0001c0004t0003g0162 a0002c0020t0002g0057 a0006c0007t0001g0164 |
3 | 10 | 0.3000 | 33 | c.134 others(52): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197132576 | T | TATTAAAT others(26): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01167.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0006a0003c0005t0002 | a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0152 others(7): Show |
10 | 172 | 0.0581 | 33 | c.102 others(52): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 10/24 | chr3 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7184646 | T | TATATATA others(26): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0085 | 1 | 371 | 0.0027 | 33 | c.*60 others(44): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2540 | chr17 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4265627 | T | TTCCTTCC others(26): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0043 | 1 | 67 | 0.0149 | 33 | c.-26 others(56): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1014399 | A | ATGCCTCC others(26): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0039 | 1 | 38 | 0.0263 | 33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1014785 | C | CGCCTCCA others(26): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 36 | 0.0278 | 33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1015279 | G | GTGACCAG others(26): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 38 | 0.0263 | 33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1016033 | T | TGCCTCCA others(26): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 39 | 0.0256 | 33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1256480 | T | TGCTGTGT others(26): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 HG03486.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0005others(1): Show | a0001c0003t0013a0002c0001t0002a0002c0001t0005others(2): Show | a0001c0003t0013g0007 a0002c0001t0002g0032 a0002c0001t0005g0035 others(2): Show |
5 | 40 | 0.1250 | 33 | c.74- others(48): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1374176 | G | GGGCTGTG others(26): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02895.hp1 HG03516.hp2 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0001a0001c0010t0025 | a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0010t0025g0012 |
3 | 40 | 0.0750 | 33 | c.106 others(54): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1553465 | C | CAGCAGCC others(26): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0010 | a0001c0010t0025 | a0001c0010t0025g0012 | 1 | 40 | 0.0250 | 33 | c.123 others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1683856 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0001 | 1 | 17 | 0.0588 | 33 | c.270 others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1695365 | G | GCCCGGCC others(26): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02071.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0001others(1): Show | a0001c0002t0002a0001c0012t0004a0002c0001t0003others(2): Show | a0001c0002t0002g0022 a0001c0012t0004g0036 a0002c0001t0003g0017 others(3): Show |
6 | 40 | 0.1500 | 33 | c.279 others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31284557 | T | TTTCTTCT others(26): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02071.hp1 NA20905.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0002a0001c0002t0001a0003c0003t0001 | a0001c0001t0002g0019 a0001c0002t0001g0100 a0003c0003t0001g0022 |
3 | 9 | 0.3333 | 33 | c.922 others(54): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02698.hp1 HG04199.hp1 NA20752.hp1 |
a0005a0009a0011 | a0005c0007a0009c0015a0011c0046 | a0005c0007t0001a0009c0015t0001a0011c0046t0001 | a0005c0007t0001g0120 a0009c0015t0001g0025 a0011c0046t0001g0053 |
3 | 30 | 0.1000 | 33 | c.592 others(52): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32815520 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0021 | a0021c0060 | a0021c0060t0001 | a0021c0060t0001g0113 | 1 | 61 | 0.0164 | 33 | c.530 others(48): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32879007 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 122 | 0.0082 | 33 | c.94- others(50): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33090341 | G | GTATAGAA others(26): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0024 | a0024c0034 | a0024c0034t0006 | a0024c0034t0006g0007 | 1 | 126 | 0.0079 | 33 | c.32- others(50): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33108868 | G | GAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01358.hp1 HG01952.hp1 others(2): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0018others(1): Show | a0001c0001t0001a0003c0003t0001a0007c0018t0001others(1): Show | a0001c0001t0001g0012 a0003c0003t0001g0028 a0003c0003t0001g0060 others(2): Show |
5 | 18 | 0.2778 | 33 | c.32- others(50): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3379587 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0288 | 1 | 360 | 0.0028 | 33 | c.283 others(50): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 3/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911749 | T | TGGGGGGC others(26): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0070 | 1 | 157 | 0.0064 | 33 | c.101 others(54): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21724986 | G | GCCAGGTC others(26): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(192): Show |
a0001a0002a0003others(148): Show | a0001c0090a0001c0091a0001c0107others(176): Show | a0001c0090t0002a0001c0091t0002a0001c0107t0002others(178): Show | a0001c0090t0002g0027 a0001c0091t0002g0015 a0001c0107t0002g0067 others(192): Show |
195 | 296 | 0.6588 | 33 | c.726 others(50): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 44/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(26): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 NA18959.hp2 |
a0005a0020a0187 | a0005c0142a0020c0226a0187c0230 | a0005c0142t0003a0020c0226t0001a0187c0230t0010 | a0005c0142t0003g0055 a0020c0226t0001g0136 a0187c0230t0010g0203 |
3 | 49 | 0.0612 | 33 | c.100 others(52): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57305332 | C | CATTGCCG others(26): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0018 | a0018c0030 | a0018c0030t0001 | a0018c0030t0001g0147 | 1 | 264 | 0.0038 | 33 | c.111 others(54): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CTATATAT others(26): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 |
a0017a0021 | a0017c0009a0021c0019 | a0017c0009t0001a0021c0019t0001 | a0017c0009t0001g0111 a0021c0019t0001g0113 |
2 | 144 | 0.0139 | 33 | c.936 others(52): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 82 | 0.0122 | 33 | c.730 others(52): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 82 | 0.0122 | 33 | c.730 others(52): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0027 | a0027c0021 | a0027c0021t0001 | a0027c0021t0001g0098 | 1 | 59 | 0.0169 | 33 | c.133 others(52): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78541139 | G | GGGTGGGG others(26): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02886.hp2 HG03471.hp2 |
a0003a0045a0086 | a0003c0199a0045c0201a0086c0075 | a0003c0199t0002a0045c0201t0001a0086c0075t0001 | a0003c0199t0002g0141 a0045c0201t0001g0140 a0086c0075t0001g0011 |
3 | 162 | 0.0185 | 33 | c.253 others(52): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20980260 | T | TTATAATA others(26): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(31): Show |
a0001a0003a0011others(5): Show | a0001c0002a0001c0011a0001c0022others(9): Show | a0001c0002t0001a0001c0011t0002a0001c0022t0001others(9): Show | a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0154 others(31): Show |
34 | 223 | 0.1525 | 33 | c.772 others(50): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(26): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03209.hp2 |
a0008 | a0008c0012a0008c0057 | a0008c0012t0001a0008c0057t0001 | a0008c0012t0001g0178 a0008c0057t0001g0184 |
2 | 171 | 0.0117 | 33 | c.324 others(50): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 101 | 0.0099 | 33 | c.-35 others(48): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11661080 | T | TCACATTT others(26): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 HG03130.hp1 others(3): Show |
a0018a0047a0051others(2): Show | a0018c0017a0047c0067a0051c0089others(2): Show | a0018c0017t0001a0047c0067t0001a0051c0089t0001others(2): Show | a0018c0017t0001g0009 a0018c0017t0001g0014 a0047c0067t0001g0038 others(3): Show |
6 | 176 | 0.0341 | 33 | c.259 others(52): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(26): Show |
splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00639.hp1 HG01123.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 a0002c0002t0001g0199 a0002c0002t0001g0206 others(2): Show |
5 | 6 | 0.8333 | 33 | c.189 others(46): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GAGAGAGA others(26): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0153 | 1 | 47 | 0.0213 | 33 | c.124 others(52): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174595 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0003a0009c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(2): Show | a0001c0001t0001g0288 a0001c0001t0001g0319 a0001c0001t0002g0004 others(22): Show |
25 | 333 | 0.0751 | 33 | c.22- others(50): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAJA4_chr15_78259562_78287191 | 78273482 | T | TGTTAGTT others(26): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170 | 1 | 440 | 0.0023 | 33 | c.418 others(48): Show |
DNAJA4 | ENSG00000140403.13 | transcript | ENST00000394852.8 | protein_coding | 3/6 | chr15 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67842631 | C | CTCTTTCT others(26): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 382 | 0.0026 | 33 | c.-46 others(44): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4444 | chr10 | TogoVar | |||||||
DNAJC15_chr13_43018586_43119213 | 43024893 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0299 | 1 | 56 | 0.0179 | 33 | c.108 others(50): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206 | 1 | 206 | 0.0049 | 33 | c.83- others(48): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237085 | A | AGAGAGAG others(26): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 138 | 0.0072 | 33 | c.*29 others(44): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2805 | chr11 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(26): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
5 | 237 | 0.0211 | 33 | c.*29 others(44): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
DNAL1_chr14_73639986_73708732 | 73648417 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115 | 1 | 333 | 0.0030 | 33 | c.3+3 others(46): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | chr14 | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(26): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 157 | 0.0064 | 33 | c.*59 others(44): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(26): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 157 | 0.0064 | 33 | c.*59 others(44): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar |