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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 31822653 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG03490.hp1 others(2): Show |
a0001a0002a0010others(2): Show | a0001c0001a0002c0058a0010c0014others(2): Show | a0001c0001t0001a0002c0058t0003a0010c0014t0005others(2): Show | a0001c0001t0001g0020 a0002c0058t0003g0051 a0010c0014t0005g0074 others(2): Show |
5 | 32 | 0.1563 | 9 | c.720 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32013093 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02040.hp1 HG02293.hp2 others(10): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(9): Show | a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0002t0001g0054 others(10): Show |
13 | 21 | 0.6190 | 9 | c.643 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32200443 | C | CACACATG others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01109.hp1 others(39): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0021others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0033 a0001c0001t0001g0082 a0001c0001t0002g0019 others(39): Show |
42 | 126 | 0.3333 | 9 | c.643 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32360800 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(55): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0021others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(55): Show |
58 | 87 | 0.6667 | 9 | c.532 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 37/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32394911 | A | AAACAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(74): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0021others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(74): Show |
77 | 124 | 0.6210 | 9 | c.423 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 30/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32394921 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(65): Show |
68 | 108 | 0.6296 | 9 | c.423 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 30/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32485734 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01192.hp1 others(13): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0010others(10): Show | a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0001g0082 others(13): Show |
16 | 41 | 0.3902 | 9 | c.262 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 20/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32815664 | A | ATTAATTC others(2): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0002a0026 | a0002c0009a0026c0024 | a0002c0009t0002a0026c0024t0008 | a0002c0009t0002g0112 a0026c0024t0008g0105 |
2 | 126 | 0.0159 | 9 | c.530 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32870980 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02056.hp1 HG02647.hp1 others(4): Show |
a0002a0004a0005others(2): Show | a0002c0005a0004c0012a0005c0052others(2): Show | a0002c0005t0001a0004c0012t0001a0005c0052t0006others(2): Show | a0002c0005t0001g0017 a0002c0005t0001g0088 a0004c0012t0001g0030 others(4): Show |
7 | 97 | 0.0722 | 9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32903144 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02129.hp1 NA18943.hp1 others(4): Show |
a0001a0003a0007others(4): Show | a0001c0001a0003c0010a0007c0019others(4): Show | a0001c0001t0001a0003c0010t0001a0007c0019t0001others(4): Show | a0001c0001t0001g0034 a0003c0010t0001g0055 a0007c0019t0001g0058 others(4): Show |
7 | 32 | 0.2188 | 9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32991249 | A | AGGATTTG others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00738.hp1 others(54): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0002c0005others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0050 others(54): Show |
57 | 126 | 0.4524 | 9 | c.93+ others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMKN_chr19_35492220_35518649 | 35511519 | A | ACTGCTGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00642.hp1 HG01243.hp2 others(4): Show |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0001a0001c0002t0002a0004c0010t0001 | a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0073 others(3): Show |
7 | 440 | 0.0159 | 9 | c.809 others(16): Show |
p.Ser others(13): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 983/1924 | 809/1431 | 270/476 | chr19 | TogoVar | |||
DMRT1_chr9_836697_974090 | 854783 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(113): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0141 a0001c0001t0001g0189 a0001c0001t0001g0190 others(113): Show |
116 | 266 | 0.4361 | 9 | c.538 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | chr9 | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 870709 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01070.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(7): Show | a0001c0001t0001g0101 a0001c0001t0001g0189 a0001c0001t0001g0196 others(21): Show |
24 | 84 | 0.2857 | 9 | c.539 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 897090 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01515.hp2 HG02257.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0279 a0001c0001t0001g0294 a0001c0003t0001g0214 others(6): Show |
9 | 87 | 0.1034 | 9 | c.822 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRT2_chr9_1045357_1062552 | 1060726 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0002a0001c0003t0006a0002c0001t0001others(2): Show | a0001c0002t0002g0001 a0001c0003t0006g0054 a0002c0001t0001g0038 others(2): Show |
5 | 238 | 0.0210 | 9 | c.*34 others(20): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 3175 | chr9 | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72900298 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0029 a0001c0001t0002g0010 a0001c0001t0004g0022 others(1): Show |
4 | 30 | 0.1333 | 9 | c.-94 others(28): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72900298 | C | CAAAAAAC others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01928.hp1 HG01943.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0018others(4): Show | a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0044 others(7): Show |
10 | 36 | 0.2778 | 9 | c.-94 others(28): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72943820 | C | CAGGAGGA others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02129.hp2 HG02572.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015 | a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0020 others(3): Show |
6 | 14 | 0.4286 | 9 | c.-34 others(18): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | 68127 | chrX | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22078798 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01361.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0128 a0001c0001t0001g0165 a0001c0001t0001g0166 others(5): Show |
8 | 19 | 0.4211 | 9 | c.836 others(26): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00621.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0022 others(8): Show |
14 | 158 | 0.0886 | 9 | c.836 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
DMXL1_chr5_119066087_119254127 | 119089999 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01993.hp2 HG02486.hp1 others(7): Show |
a0001a0016 | a0001c0001a0001c0002a0016c0039 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0165 a0001c0001t0001g0185 a0001c0001t0001g0187 others(7): Show |
10 | 16 | 0.6250 | 9 | c.88- others(24): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123370 | A | AGAGGGAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01175.hp1 others(2): Show |
a0001a0013 | a0001c0002a0013c0033 | a0001c0002t0001a0013c0033t0001 | a0001c0002t0001g0157 a0001c0002t0001g0176 a0001c0002t0001g0177 others(2): Show |
5 | 221 | 0.0226 | 9 | c.110 others(28): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51521414 | C | CTAGTAGT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02055.hp2 HG02080.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0010others(4): Show | a0001c0001t0002a0001c0007t0002a0001c0010t0002others(4): Show | a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0192 others(11): Show |
14 | 131 | 0.1069 | 9 | c.243 others(28): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 13/43 | chr15 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51601290 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01169.hp1 others(9): Show |
a0002a0004a0008 | a0002c0002a0002c0004a0002c0014others(3): Show | a0002c0002t0001a0002c0002t0006a0002c0004t0001others(4): Show | a0002c0002t0001g0212 a0002c0002t0001g0239 a0002c0002t0001g0240 others(9): Show |
12 | 203 | 0.0591 | 9 | c.87+ others(26): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | |||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01261.hp1 HG03579.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0001c0001t0022a0002c0002t0003others(2): Show | a0001c0001t0021g0128 a0001c0001t0022g0035 a0002c0002t0003g0041 others(5): Show |
9 | 109 | 0.0826 | 9 | c.*42 others(20): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01261.hp2 HG02004.hp1 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0064 others(13): Show |
20 | 97 | 0.2062 | 9 | c.125 others(24): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433912 | A | AATATATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(21): Show |
a0004a0005 | a0004c0005a0004c0007a0005c0004 | a0004c0005t0001a0004c0005t0002a0004c0005t0003others(4): Show | a0004c0005t0001g0295 a0004c0005t0002g0273 a0004c0005t0002g0274 others(21): Show |
24 | 289 | 0.0830 | 9 | c.104 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433959 | A | ATTATAAT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 HG03579.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 others(2): Show |
5 | 336 | 0.0149 | 9 | c.104 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55473198 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18941.hp1 NA18966.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0296 a0003c0003t0002g0312 a0003c0003t0002g0314 others(4): Show |
7 | 163 | 0.0429 | 9 | c.406 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107221910 | C | CATAATAA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG03225.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0053 others(2): Show |
9 | 123 | 0.0732 | 9 | c.333 others(24): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3311979 | C | CTTTTTTC others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG01433.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0002a0001c0002t0016others(2): Show | a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0314 others(11): Show |
14 | 360 | 0.0389 | 9 | c.167 others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3336252 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00735.hp2 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0012others(2): Show | a0001c0003t0004g0008 a0001c0003t0004g0031 a0001c0003t0004g0035 others(14): Show |
17 | 279 | 0.0609 | 9 | c.982 others(26): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3397323 | G | GTTTTTTG others(2): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18981.hp1 NA19012.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0008a0001c0006t0025 | a0001c0006t0008g0351 a0001c0006t0008g0352 a0001c0006t0008g0353 others(2): Show |
5 | 284 | 0.0176 | 9 | c.83+ others(26): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123809651 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01243.hp1 others(5): Show |
a0008a0013a0017others(2): Show | a0008c0009a0013c0079a0017c0024others(2): Show | a0008c0009t0002a0013c0079t0001a0017c0024t0001others(2): Show | a0008c0009t0002g0032 a0008c0009t0002g0146 a0008c0009t0002g0149 others(5): Show |
8 | 121 | 0.0661 | 9 | c.314 others(26): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 19/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21545274 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02004.hp2 others(5): Show |
a0006a0011a0024others(4): Show | a0006c0262a0006c0266a0011c0199others(5): Show | a0006c0262t0001a0006c0266t0005a0011c0199t0003others(5): Show | a0006c0262t0001g0139 a0006c0266t0005g0137 a0011c0199t0003g0141 others(5): Show |
8 | 60 | 0.1333 | 9 | c.495 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21726891 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(6): Show |
a0005a0006a0007others(6): Show | a0005c0142a0006c0266a0007c0217others(6): Show | a0005c0142t0003a0006c0266t0005a0007c0217t0001others(6): Show | a0005c0142t0003g0055 a0006c0266t0005g0137 a0007c0217t0001g0182 others(6): Show |
9 | 281 | 0.0320 | 9 | c.744 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21763352 | A | AAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01934.hp2 HG02622.hp2 others(3): Show |
a0010a0052a0085others(2): Show | a0010c0007a0052c0086a0085c0139others(2): Show | a0010c0007t0003a0052c0086t0001a0085c0139t0003others(2): Show | a0010c0007t0003g0287 a0010c0007t0003g0288 a0052c0086t0001g0033 others(3): Show |
6 | 102 | 0.0588 | 9 | c.894 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 54/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01975.hp1 others(14): Show |
a0004a0011a0018others(12): Show | a0004c0010a0004c0082a0011c0016others(14): Show | a0004c0010t0001a0004c0082t0001a0011c0016t0003others(14): Show | a0004c0010t0001g0037 a0004c0082t0001g0034 a0011c0016t0003g0171 others(14): Show |
17 | 63 | 0.2698 | 9 | c.100 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21848166 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01884.hp1 others(58): Show |
a0001a0003a0007others(51): Show | a0001c0110a0003c0054a0003c0062others(57): Show | a0001c0110t0005a0003c0054t0002a0003c0062t0002others(57): Show | a0001c0110t0005g0245 a0003c0054t0002g0063 a0003c0062t0002g0281 others(58): Show |
61 | 227 | 0.2687 | 9 | c.108 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 66/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21848173 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02559.hp2 HG02922.hp2 others(5): Show |
a0029a0072a0119others(4): Show | a0029c0018a0072c0189a0119c0164others(4): Show | a0029c0018t0001a0072c0189t0019a0119c0164t0005others(4): Show | a0029c0018t0001g0128 a0029c0018t0001g0157 a0072c0189t0019g0196 others(5): Show |
8 | 296 | 0.0270 | 9 | c.108 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 66/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21873770 | T | TCTTGAGG others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG01891.hp1 others(9): Show |
a0060a0081a0082others(9): Show | a0060c0063a0081c0056a0082c0200others(9): Show | a0060c0063t0001a0081c0056t0001a0082c0200t0001others(9): Show | a0060c0063t0001g0112 a0081c0056t0001g0118 a0082c0200t0001g0134 others(9): Show |
12 | 296 | 0.0405 | 9 | c.121 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 74/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01074.hp2 others(2): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0015others(1): Show | a0001c0001t0001a0002c0002t0001a0010c0015t0001others(1): Show | a0001c0001t0001g0254 a0002c0002t0001g0132 a0002c0002t0001g0136 others(2): Show |
5 | 103 | 0.0485 | 9 | c.111 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57421902 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG01243.hp2 others(6): Show |
a0009a0011a0013others(5): Show | a0009c0014a0011c0062a0013c0010others(5): Show | a0009c0014t0001a0011c0062t0001a0013c0010t0002others(5): Show | a0009c0014t0001g0187 a0011c0062t0001g0103 a0013c0010t0002g0253 others(6): Show |
9 | 167 | 0.0539 | 9 | c.537 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 35/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57438918 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02818.hp1 others(5): Show |
a0017a0021a0023others(1): Show | a0017c0009a0021c0019a0023c0074others(2): Show | a0017c0009t0001a0021c0019t0001a0023c0074t0002others(2): Show | a0017c0009t0001g0111 a0017c0009t0001g0115 a0017c0009t0001g0116 others(5): Show |
8 | 58 | 0.1379 | 9 | c.454 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 29/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57450250 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(96): Show |
a0001a0005a0007others(24): Show | a0001c0001a0001c0026a0001c0027others(34): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(36): Show | a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0170 others(96): Show |
99 | 193 | 0.5130 | 9 | c.378 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 25/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57491081 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01928.hp1 others(6): Show |
a0004a0014a0060others(2): Show | a0004c0004a0014c0011a0060c0070others(2): Show | a0004c0004t0001a0014c0011t0001a0060c0070t0001others(2): Show | a0004c0004t0001g0040 a0004c0004t0001g0067 a0004c0004t0001g0069 others(6): Show |
9 | 228 | 0.0395 | 9 | c.133 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 224953129 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG01891.hp2 others(21): Show |
a0005a0007a0008others(9): Show | a0005c0082a0007c0007a0008c0009others(11): Show | a0005c0082t0001a0007c0007t0001a0008c0009t0001others(11): Show | a0005c0082t0001g0023 a0007c0007t0001g0003 a0007c0007t0001g0010 others(21): Show |
24 | 188 | 0.1277 | 9 | c.77+ others(22): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 2/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225274194 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02055.hp1 others(8): Show |
a0001a0010a0016others(3): Show | a0001c0001a0010c0010a0016c0015others(3): Show | a0001c0001t0001a0010c0010t0001a0016c0015t0001others(3): Show | a0001c0001t0001g0160 a0010c0010t0001g0030 a0010c0010t0001g0031 others(8): Show |
11 | 173 | 0.0636 | 9 | c.801 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78548202 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00621.hp2 others(9): Show |
a0002a0004a0012others(6): Show | a0002c0003a0002c0089a0002c0094others(9): Show | a0002c0003t0001a0002c0089t0001a0002c0094t0001others(9): Show | a0002c0003t0001g0220 a0002c0089t0001g0039 a0002c0094t0001g0173 others(9): Show |
12 | 99 | 0.1212 | 9 | c.239 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar |