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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03471.hp2 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0006 | a0001c0001t0002g0281a0002c0002t0006g0020 | 2 | 306 | 0.0065 | -13 | c.823 others(30): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 952072 | CCCAGGGT others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0125a0001c0001t0010g0259 | 2 | 306 | 0.0065 | -13 | c.968 others(32): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
DMRT2_chr9_1045357_1062552 | 1047395 | GCAACTGA others(6): Show |
G | upstream_gene_variant | MODIFIER | NA19003.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0003 | 1 | 488 | 0.0021 | -13 | c.-34 others(24): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 2961 | chr9 | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72853714 | ACAAAAGG others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 26 | 0.0385 | -13 | c.*53 others(24): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 4912 | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41842764 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -13 | c.-23 others(24): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 2277 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843065 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01257.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006 | 4 | 402 | 0.0100 | -13 | c.-20 others(24): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1976 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843066 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG04115.hp2 NA18980.hp2 NA18989.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 5 | 402 | 0.0124 | -13 | c.-20 others(24): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1975 | chr19 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22065827 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 324 | 0.0031 | -13 | c.-17 others(30): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22073658 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 324 | 0.0031 | -13 | c.730 others(26): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMWD_chr19_45777947_45797845 | 45794413 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp2 NA19067.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0003a0001c0002t0002g0002 | 2 | 440 | 0.0046 | -13 | c.-16 others(24): Show |
DMWD | ENSG00000185800.12 | transcript | ENST00000270223.7 | protein_coding | 1569 | chr19 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089292 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 NA18906.hp2 |
a0008 | a0008c0015 | a0008c0015t0008a0008c0015t0015 | a0008c0015t0008g0236a0008c0015t0008g0237a0008c0015t0015g0235 | 3 | 238 | 0.0126 | -13 | c.88- others(28): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0002t0001g0035others(3): Show | 6 | 238 | 0.0252 | -13 | c.88- others(28): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51583108 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(95): Show |
a0001a0002a0009others(3): Show | a0001c0010a0002c0002a0002c0004others(10): Show | a0001c0010t0002a0002c0002t0001a0002c0002t0006others(13): Show | a0001c0010t0002g0276a0001c0010t0002g0277a0001c0010t0002g0281others(92): Show | 98 | 346 | 0.2832 | -13 | c.88- others(28): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51605517 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0132 | 1 | 346 | 0.0029 | -13 | c.87+ others(30): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0265 | 1 | 432 | 0.0023 | -13 | c.*42 others(24): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84163241 | TTTGAGGA others(6): Show |
T | intron_variant | MODIFIER | HG01257.hp1 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0131 | 1 | 456 | 0.0022 | -13 | c.864 others(30): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 6/11 | chr16 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55162997 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 398 | 0.0025 | -13 | c.323 others(28): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55495204 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(6): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0274a0004c0005t0002g0275a0004c0005t0002g0276others(6): Show | 9 | 338 | 0.0266 | -13 | c.271 others(30): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 722881 | CAGGTCCA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0338 | 1 | 378 | 0.0027 | -13 | c.-38 others(24): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 3817 | chr7 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3277261 | TTCTTCCC others(6): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 | 1 | 362 | 0.0028 | -13 | c.265 others(32): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 29/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3284173 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0013 | a0001c0001t0007g0312a0001c0001t0007g0313a0001c0001t0007g0315others(3): Show | 6 | 362 | 0.0166 | -13 | c.248 others(32): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 27/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3293292 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0360 | 1 | 362 | 0.0028 | -13 | c.223 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 25/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3319262 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0077 | 1 | 362 | 0.0028 | -13 | c.135 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 16/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3323274 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0004 | 1 | 362 | 0.0028 | -13 | c.126 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 14/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3387884 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0341 | 1 | 362 | 0.0028 | -13 | c.84- others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3394942 | CTTTTTTC others(6): Show |
C | intron_variant | MODIFIER | NA19012.hp1 NA19067.hp1 |
a0001 | a0001c0006 | a0001c0006t0008a0001c0006t0025 | a0001c0006t0008g0352a0001c0006t0025g0355 | 2 | 362 | 0.0055 | -13 | c.84- others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123894082 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0045 | a0045c0049 | a0045c0049t0001 | a0045c0049t0001g0078 | 1 | 170 | 0.0059 | -13 | c.920 others(30): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 53/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911750 | GGGGGGTC others(6): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0093 | a0002c0093t0002 | a0002c0093t0002g0134 | 1 | 170 | 0.0059 | -13 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123912113 | GGGGGGTC others(6): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG03492.hp1 HG04228.hp1 |
a0002a0042 | a0002c0004a0002c0093a0042c0045 | a0002c0004t0002a0002c0093t0002a0042c0045t0002 | a0002c0004t0002g0135a0002c0093t0002g0134a0042c0045t0002g0111 | 3 | 170 | 0.0177 | -13 | c.101 others(32): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123912461 | GGGGGGTC others(6): Show |
G | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 170 | 0.0059 | -13 | c.101 others(32): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21631646 | CTCCATGT others(6): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0157 | a0157c0179 | a0157c0179t0001 | a0157c0179t0001g0125 | 1 | 298 | 0.0034 | -13 | c.450 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 25/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG04115.hp2 |
a0093a0220 | a0093c0105a0220c0255 | a0093c0105t0010a0220c0255t0002 | a0093c0105t0010g0024a0220c0255t0002g0160 | 2 | 298 | 0.0067 | -13 | c.744 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21901576 | AAAAAGTA others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02976.hp2 NA19007.hp2 |
a0002a0183a0192 | a0002c0090a0183c0211a0192c0200 | a0002c0090t0020a0183c0211t0012a0192c0200t0012 | a0002c0090t0020g0027a0183c0211t0012g0232a0192c0200t0012g0134 | 3 | 298 | 0.0101 | -13 | c.*33 others(22): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 82/82 | 337 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
DNAH12_chr3_57288700_57549344 | 57289687 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01169.hp2 HG01891.hp2 HG02055.hp1 others(28): Show |
a0007a0009a0011others(14): Show | a0007c0008a0007c0016a0009c0025others(18): Show | a0007c0008t0002a0007c0016t0001a0009c0025t0001others(18): Show | a0007c0008t0002g0046a0007c0008t0002g0078a0007c0008t0002g0081others(28): Show | 31 | 266 | 0.1165 | -13 | c.*40 others(24): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4012 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57301265 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0089 | 1 | 266 | 0.0038 | -13 | c.113 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302557 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 |
a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0108a0016c0012t0001g0109 | 2 | 266 | 0.0075 | -13 | c.111 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57396278 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG01243.hp2 others(32): Show |
a0007a0009a0011others(15): Show | a0007c0008a0007c0016a0009c0025others(20): Show | a0007c0008t0002a0007c0016t0001a0009c0025t0001others(20): Show | a0007c0008t0002g0046a0007c0008t0002g0078a0007c0008t0002g0081others(32): Show | 35 | 266 | 0.1316 | -13 | c.694 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 43/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57411526 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 266 | 0.0038 | -13 | c.602 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 39/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57411543 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00738.hp2 others(67): Show |
a0001a0005a0009others(10): Show | a0001c0001a0001c0026a0001c0027others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(18): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(67): Show | 70 | 266 | 0.2632 | -13 | c.602 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 39/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499644 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0030 | 1 | 266 | 0.0038 | -13 | c.133 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 HG03041.hp2 others(2): Show |
a0025a0027a0065others(2): Show | a0025c0056a0027c0058a0065c0057others(2): Show | a0025c0056t0001a0027c0058t0002a0065c0057t0001others(2): Show | a0025c0056t0001g0064a0027c0058t0002g0037a0065c0057t0001g0039others(2): Show | 5 | 266 | 0.0188 | -13 | c.279 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225091109 | ATGATTCA others(6): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03130.hp2 |
a0059a0065 | a0059c0057a0065c0047 | a0059c0057t0001a0065c0047t0001 | a0059c0057t0001g0232a0065c0047t0001g0233 | 2 | 240 | 0.0083 | -13 | c.357 others(32): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225094674 | AAAAACAA others(6): Show |
A | intron_variant | MODIFIER | HG02027.hp1 NA18987.hp2 |
a0038a0039 | a0038c0124a0039c0123 | a0038c0124t0001a0039c0123t0001 | a0038c0124t0001g0094a0039c0123t0001g0092 | 2 | 240 | 0.0083 | -13 | c.357 others(32): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225094678 | ACAACAAA others(6): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0036 | a0036c0120 | a0036c0120t0001 | a0036c0120t0001g0088 | 1 | 240 | 0.0042 | -13 | c.357 others(32): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225322085 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01884.hp2 others(17): Show |
a0010a0017a0022others(8): Show | a0010c0010a0017c0015a0022c0023others(9): Show | a0010c0010t0001a0017c0015t0001a0022c0023t0001others(9): Show | a0010c0010t0001g0030a0010c0010t0001g0031a0010c0010t0001g0032others(17): Show | 20 | 240 | 0.0833 | -13 | c.933 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 61/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225360399 | AACAACAC others(6): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0063 | a0063c0051 | a0063c0051t0001 | a0063c0051t0001g0235 | 1 | 240 | 0.0042 | -13 | c.117 others(32): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 74/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78434632 | GGGGATGG others(6): Show |
G | intron_variant | MODIFIER | HG02080.hp1 | a0118 | a0118c0192 | a0118c0192t0001 | a0118c0192t0001g0058 | 1 | 252 | 0.0040 | -13 | c.120 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 74/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78449645 | CGCCACCA others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp1 HG01168.hp2 others(2): Show |
a0001a0005a0062others(2): Show | a0001c0128a0005c0186a0062c0069others(2): Show | a0001c0128t0001a0005c0186t0001a0062c0069t0001others(2): Show | a0001c0128t0001g0233a0005c0186t0001g0086a0062c0069t0001g0018others(2): Show | 5 | 252 | 0.0198 | -13 | c.110 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 68/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG02145.hp2 HG02258.hp1 others(3): Show |
a0005a0047a0076others(3): Show | a0005c0053a0047c0219a0076c0221others(3): Show | a0005c0053t0001a0047c0219t0001a0076c0221t0001others(3): Show | a0005c0053t0001g0176a0047c0219t0001g0122a0076c0221t0001g0139others(3): Show | 6 | 252 | 0.0238 | -13 | c.775 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541016 | ATGGGTGG others(6): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0226 | a0005c0226t0002 | a0005c0226t0002g0079 | 1 | 252 | 0.0040 | -13 | c.253 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar |