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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH17_chr17_78418697_78582396 | 78553283 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01255.hp1 others(4): Show |
a0006a0015a0106others(2): Show | a0006c0004a0006c0223a0015c0162others(4): Show | a0006c0004t0001a0006c0223t0001a0015c0162t0002others(4): Show | a0006c0004t0001g0185 a0006c0223t0001g0121 a0015c0162t0002g0033 others(4): Show |
7 | 187 | 0.0374 | 9 | c.217 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7822622 | C | CTATACTA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
a0001a0014a0050others(1): Show | a0001c0006a0001c0018a0001c0021others(5): Show | a0001c0006t0001a0001c0006t0004a0001c0018t0003others(6): Show | a0001c0006t0001g0091 a0001c0006t0004g0207 a0001c0018t0003g0265 others(8): Show |
11 | 311 | 0.0354 | 9 | c.111 others(28): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 73/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21002444 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03195.hp1 HG03195.hp2 others(4): Show |
a0001a0003a0005others(1): Show | a0001c0003a0003c0018a0005c0010others(1): Show | a0001c0003t0001a0003c0018t0001a0005c0010t0001others(1): Show | a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 others(4): Show |
7 | 67 | 0.1045 | 9 | c.598 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 42/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020398 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18948.hp1 NA18948.hp2 others(1): Show |
a0001a0005 | a0001c0002a0001c0011a0005c0010 | a0001c0002t0001a0001c0011t0002a0005c0010t0001 | a0001c0002t0001g0154 a0001c0002t0001g0198 a0001c0011t0002g0013 others(1): Show |
4 | 166 | 0.0241 | 9 | c.563 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21040358 | A | ATCTTTTT others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01257.hp1 HG01258.hp2 others(10): Show |
a0002a0003a0004others(3): Show | a0002c0004a0002c0089a0003c0043others(6): Show | a0002c0004t0001a0002c0089t0001a0003c0043t0003others(7): Show | a0002c0004t0001g0160 a0002c0089t0001g0146 a0003c0043t0003g0001 others(10): Show |
13 | 100 | 0.1300 | 9 | c.450 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 32/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21131497 | A | AAAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(51): Show |
a0001a0002a0003others(14): Show | a0001c0013a0001c0034a0001c0100others(22): Show | a0001c0013t0001a0001c0034t0001a0001c0100t0001others(23): Show | a0001c0013t0001g0048 a0001c0013t0001g0062 a0001c0013t0001g0070 others(51): Show |
54 | 58 | 0.9310 | 9 | c.995 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 8/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21139320 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(30): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 others(30): Show |
33 | 74 | 0.4459 | 9 | c.609 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 6/61 | chr16 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84557656 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01243.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0006a0005c0003others(1): Show | a0001c0001t0001a0002c0006t0001a0005c0003t0001others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0091 others(6): Show |
9 | 24 | 0.3750 | 9 | c.160 others(24): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84602482 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 HG02976.hp1 others(2): Show |
a0007 | a0007c0009a0007c0047 | a0007c0009t0001a0007c0047t0001 | a0007c0009t0001g0034 a0007c0009t0001g0035 a0007c0009t0001g0037 others(2): Show |
5 | 27 | 0.1852 | 9 | c.286 others(28): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38725304 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00639.hp1 others(35): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0007a0001c0035others(28): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(29): Show | a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0062 others(35): Show |
38 | 43 | 0.8837 | 9 | c.525 others(26): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 3/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38748755 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(111): Show |
a0001a0003a0004others(42): Show | a0001c0001a0001c0007a0001c0035others(67): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(68): Show | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0060 others(111): Show |
114 | 157 | 0.7261 | 9 | c.129 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 8/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38772971 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00741.hp2 others(6): Show |
a0001a0009a0011others(3): Show | a0001c0007a0001c0031a0001c0036others(6): Show | a0001c0007t0001a0001c0031t0001a0001c0036t0001others(6): Show | a0001c0007t0001g0131 a0001c0031t0001g0076 a0001c0036t0001g0189 others(6): Show |
9 | 73 | 0.1233 | 9 | c.176 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38818537 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp2 others(30): Show |
a0007a0010a0017others(12): Show | a0007c0012a0007c0019a0007c0066others(18): Show | a0007c0012t0001a0007c0012t0002a0007c0019t0001others(19): Show | a0007c0012t0001g0177 a0007c0012t0001g0180 a0007c0012t0001g0243 others(30): Show |
33 | 104 | 0.3173 | 9 | c.352 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 26/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38940931 | C | CTAAACCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(260): Show |
a0001a0002a0003others(71): Show | a0001c0001a0001c0007a0001c0022others(126): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(133): Show | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0060 others(260): Show |
263 | 284 | 0.9261 | 9 | c.120 others(30): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 79/92 | chr6 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11962677 | T | TCTGCTGC others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 HG03139.hp2 others(3): Show |
a0016a0018a0032others(3): Show | a0016c0011a0018c0017a0032c0027others(3): Show | a0016c0011t0001a0018c0017t0001a0032c0027t0001others(3): Show | a0016c0011t0001g0073 a0018c0017t0001g0014 a0032c0027t0001g0075 others(3): Show |
6 | 172 | 0.0349 | 9 | c.132 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 68/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11971663 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 HG03139.hp2 HG03471.hp2 others(1): Show |
a0016a0018a0061others(1): Show | a0016c0011a0018c0017a0061c0138others(1): Show | a0016c0011t0001a0018c0017t0001a0061c0138t0001others(1): Show | a0016c0011t0001g0073 a0018c0017t0001g0014 a0061c0138t0001g0176 others(1): Show |
4 | 174 | 0.0230 | 9 | c.*21 others(20): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 1916 | chr17 | TogoVar | |||||||
DNAI1_chr9_34453805_34525984 | 34473273 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG02572.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0207 a0001c0001t0001g0220 a0002c0002t0001g0296 others(10): Show |
13 | 217 | 0.0599 | 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 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0043 others(78): Show |
85 | 92 | 0.9239 | 9 | c.346 others(24): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66858532 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp1 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0152 others(56): Show |
59 | 193 | 0.3057 | 9 | c.109 others(28): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 7/16 | chr1 | TogoVar | |||||||
DNAI4_chr1_66807885_66929856 | 66872217 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01081.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0116 a0001c0001t0001g0128 a0002c0002t0001g0050 others(16): Show |
19 | 225 | 0.0844 | 9 | c.801 others(24): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 5/16 | chr1 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25146599 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01256.hp2 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0107 a0002c0002t0001g0108 others(15): Show |
19 | 121 | 0.1570 | 9 | c.689 others(24): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 8/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174542 | T | TATATATC others(2): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18984.hp1 NA19066.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0271 others(1): Show |
4 | 320 | 0.0125 | 9 | c.22- others(26): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174570 | T | TCATATAT others(2): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18984.hp1 NA19066.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0271 others(1): Show |
4 | 276 | 0.0145 | 9 | c.22- others(26): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAJA1_chr9_33020273_33044907 | 33025754 | A | AGGGGCTG others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(1): Show |
4 | 442 | 0.0090 | 9 | c.-11 others(24): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAJA2_chr16_46950362_46978674 | 46970730 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0016 others(15): Show |
34 | 50 | 0.6800 | 9 | c.362 others(24): Show |
DNAJA2 | ENSG00000069345.12 | transcript | ENST00000317089.10 | protein_coding | 3/8 | chr16 | TogoVar | |||||||
DNAJA2_chr16_46950362_46978674 | 46971661 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG02273.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0148 a0001c0001t0001g0149 others(3): Show |
6 | 40 | 0.1500 | 9 | c.139 others(22): Show |
DNAJA2 | ENSG00000069345.12 | transcript | ENST00000317089.10 | protein_coding | 2/8 | chr16 | TogoVar | |||||||
DNAJB13_chr11_73946026_73975281 | 73954032 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 |
3 | 389 | 0.0077 | 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 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01070.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0003g0006 a0001c0001t0003g0023 others(4): Show |
24 | 188 | 0.1277 | 9 | c.-31 others(20): Show |
DNAJB1 | ENSG00000132002.9 | transcript | ENST00000254322.3 | protein_coding | 3060 | chr19 | TogoVar | |||||||
DNAJC11_chr1_6629170_6706816 | 6668136 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0007 a0001c0001t0001g0125 a0001c0001t0001g0126 others(10): Show |
14 | 364 | 0.0385 | 9 | c.277 others(24): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 3/15 | chr1 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67801836 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 others(3): Show |
6 | 69 | 0.0870 | 9 | c.502 others(26): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132487559 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp2 others(9): Show |
a0001a0012 | a0001c0001a0012c0022 | a0001c0001t0001a0001c0001t0004a0012c0022t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0221 others(7): Show |
12 | 58 | 0.2069 | 9 | c.326 others(26): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132532912 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01106.hp1 others(47): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0221 others(43): Show |
50 | 108 | 0.4630 | 9 | c.662 others(28): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 55/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC15_chr13_43018586_43119213 | 43024893 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0012a0002c0003t0057a0002c0003t0059 | a0002c0003t0012g0010 a0002c0003t0012g0285 a0002c0003t0012g0287 others(4): Show |
7 | 62 | 0.1129 | 9 | c.108 others(26): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC18_chr5_139405203_139444525 | 139435705 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0002a0001c0002t0010others(2): Show | a0001c0001t0009g0050 a0001c0002t0002g0003 a0001c0002t0002g0013 others(22): Show |
35 | 56 | 0.6250 | 9 | c.227 others(26): Show |
DNAJC18 | ENSG00000170464.10 | transcript | ENST00000302060.10 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21868080 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(85): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(85): Show |
88 | 160 | 0.5500 | 9 | c.978 others(28): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21883251 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | NA19068.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0155 a0001c0002t0001g0063 |
2 | 26 | 0.0769 | 9 | c.821 others(24): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 7/11 | chr10 | TogoVar | |||||||
DNAJC5_chr20_63890126_63941011 | 63895194 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00621.hp1 NA19009.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0253 a0001c0001t0012g0254 a0001c0001t0012g0255 |
3 | 327 | 0.0092 | 9 | c.-12 others(18): Show |
DNAJC5 | ENSG00000101152.12 | transcript | ENST00000360864.9 | protein_coding | 1/5 | 33130 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNAJC6_chr1_65304543_65420871 | 65380916 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03017.hp2 HG03239.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0003a0002c0004t0005others(3): Show | a0002c0004t0002g0214 a0002c0004t0002g0233 a0002c0004t0003g0186 others(7): Show |
10 | 124 | 0.0806 | 9 | c.666 others(26): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAJC7_chr17_41971435_42022439 | 42006796 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01243.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 others(17): Show |
20 | 82 | 0.2439 | 9 | c.78- others(24): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
DNAL1_chr14_73639986_73708732 | 73681629 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02630.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0102 a0001c0001t0008g0103 a0001c0001t0008g0147 |
3 | 129 | 0.0233 | 9 | c.265 others(26): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396713 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02895.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 3 | 254 | 0.0118 | 9 | c.*59 others(20): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4522 | chrX | TogoVar | |||||||
DNASE1_chr16_3649691_3663095 | 3653806 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02723.hp1 NA18940.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0004 |
9 | 57 | 0.1579 | 9 | c.-12 others(20): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 884 | chr16 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229575245 | A | ATATCTTC others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0104 |
2 | 174 | 0.0115 | 9 | c.847 others(28): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229593245 | T | TCCTCCCA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02818.hp1 others(4): Show |
a0002 | a0002c0003a0002c0017 | a0002c0003t0001a0002c0003t0002a0002c0017t0002 | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0014 others(4): Show |
7 | 174 | 0.0402 | 9 | c.277 others(26): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229630479 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02647.hp2 NA19066.hp2 NA20129.hp1 |
a0001a0003 | a0001c0001a0001c0007a0003c0004 | a0001c0001t0001a0001c0007t0001a0003c0004t0002 | a0001c0001t0001g0089 a0001c0007t0001g0134 a0003c0004t0002g0059 |
3 | 82 | 0.0366 | 9 | c.277 others(28): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNM1L_chr12_32674301_32750650 | 32717240 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(1): Show |
4 | 228 | 0.0175 | 9 | c.620 others(26): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128210348 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(120): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0126 others(117): Show |
123 | 204 | 0.6029 | 9 | c.161 others(26): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172106847 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02080.hp2 HG03239.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0033others(2): Show | a0001c0001t0001g0100 a0001c0001t0008g0095 a0001c0001t0033g0096 others(3): Show |
6 | 17 | 0.3529 | 9 | c.154 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172290225 | C | CCTAATTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0033g0096 a0001c0002t0001g0068 a0001c0002t0001g0076 others(6): Show |
9 | 134 | 0.0672 | 9 | c.177 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172354142 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | NA18998.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0021 a0001c0002t0003g0125 |
2 | 126 | 0.0159 | 9 | c.189 others(30): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | chr1 | TogoVar |