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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMRTC1B_chrX_72771890_72853803 | 72777018 | G | GCTCCTCC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0016 | 1 | 26 | 0.0385 | 9 | c.-30 others(18): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | 68085 | INFO_REALIGN_3_PRIME | chrX | 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 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0010a0001c0001t0004g0022a0001c0001t0010g0053others(1): Show | 4 | 54 | 0.0741 | 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 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0003g0039a0001c0001t0003g0040a0001c0001t0003g0043others(7): Show | 10 | 54 | 0.1852 | 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 | a0001c0001t0004a0001c0001t0016a0001c0001t0017 | a0001c0001t0004g0017a0001c0001t0004g0020a0001c0001t0004g0021others(3): Show | 6 | 54 | 0.1111 | 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 | a0001c0001t0001g0136a0001c0001t0001g0207a0001c0001t0001g0208others(5): Show | 8 | 324 | 0.0247 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0074a0001c0001t0001g0161others(8): Show | 14 | 324 | 0.0432 | 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 |
a0001a0017 | a0001c0001a0001c0002a0017c0040 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0161a0001c0001t0001g0181a0001c0001t0001g0182others(7): Show | 10 | 238 | 0.0420 | 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 |
a0001a0024 | a0001c0002a0024c0034 | a0001c0002t0001a0024c0034t0001 | a0001c0002t0001g0157a0001c0002t0001g0174a0001c0002t0001g0176others(2): Show | 5 | 238 | 0.0210 | 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 | a0001c0001t0002g0193a0001c0001t0002g0194a0001c0001t0002g0197others(11): Show | 14 | 346 | 0.0405 | 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 |
a0002a0004a0012 | a0002c0002a0002c0004a0002c0014others(3): Show | a0002c0002t0001a0002c0002t0006a0002c0004t0001others(4): Show | a0002c0002t0001g0218a0002c0002t0001g0245a0002c0002t0001g0246others(9): Show | 12 | 346 | 0.0347 | 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 | a0001c0001t0021g0128a0001c0001t0022g0035a0002c0002t0003g0041others(5): Show | 9 | 432 | 0.0208 | 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 | a0001c0001t0002g0014a0001c0001t0002g0015a0001c0001t0002g0055others(15): Show | 20 | 456 | 0.0439 | 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 | a0004c0005t0001g0296a0004c0005t0002g0274a0004c0005t0002g0275others(21): Show | 24 | 338 | 0.0710 | 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 | a0002c0002t0002g0249a0002c0002t0002g0250a0002c0002t0002g0251others(2): Show | 5 | 338 | 0.0148 | 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 | a0003c0003t0001g0297a0003c0003t0002g0313a0003c0003t0002g0315others(4): Show | 7 | 338 | 0.0207 | 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 | a0001c0001t0001g0010a0001c0001t0001g0039a0001c0001t0001g0041others(3): Show | 9 | 296 | 0.0304 | 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 | a0001c0001t0007g0311a0001c0001t0007g0312a0001c0001t0007g0313others(11): Show | 14 | 362 | 0.0387 | 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 | a0001c0003t0004g0007a0001c0003t0004g0029a0001c0003t0004g0030others(14): Show | 17 | 362 | 0.0470 | 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 | a0001c0006t0008g0352a0001c0006t0008g0353a0001c0006t0008g0354others(2): Show | 5 | 362 | 0.0138 | 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 |
a0010a0024a0025others(2): Show | a0010c0009a0024c0024a0025c0079others(2): Show | a0010c0009t0002a0024c0024t0001a0025c0079t0001others(2): Show | a0010c0009t0002g0032a0010c0009t0002g0146a0010c0009t0002g0149others(5): Show | 8 | 170 | 0.0471 | 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 |
a0008a0017a0031others(4): Show | a0008c0262a0008c0266a0017c0199others(5): Show | a0008c0262t0001a0008c0266t0005a0017c0199t0003others(5): Show | a0008c0262t0001g0139a0008c0266t0005g0137a0017c0199t0003g0141others(5): Show | 8 | 298 | 0.0269 | 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 |
a0006a0008a0009others(6): Show | a0006c0142a0008c0266a0009c0217others(6): Show | a0006c0142t0003a0008c0266t0005a0009c0217t0001others(6): Show | a0006c0142t0003g0055a0008c0266t0005g0137a0009c0217t0001g0182others(6): Show | 9 | 298 | 0.0302 | 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 |
a0014a0077a0125others(2): Show | a0014c0007a0077c0139a0125c0086others(2): Show | a0014c0007t0003a0077c0139t0003a0125c0086t0001others(2): Show | a0014c0007t0003g0288a0014c0007t0003g0289a0077c0139t0003g0279others(3): Show | 6 | 298 | 0.0201 | 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 |
a0003a0017a0018others(12): Show | a0003c0010a0003c0082a0017c0016others(14): Show | a0003c0010t0001a0003c0082t0001a0017c0016t0003others(14): Show | a0003c0010t0001g0037a0003c0082t0001g0034a0017c0016t0003g0172others(14): Show | 17 | 298 | 0.0571 | 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 |
a0002a0004a0005others(51): Show | a0002c0110a0004c0054a0004c0062others(57): Show | a0002c0110t0005a0004c0054t0002a0004c0062t0002others(57): Show | a0002c0110t0005g0245a0004c0054t0002g0063a0004c0062t0002g0281others(58): Show | 61 | 298 | 0.2047 | 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 |
a0040a0072a0080others(4): Show | a0040c0018a0072c0046a0080c0164others(4): Show | a0040c0018t0001a0072c0046t0025a0080c0164t0005others(4): Show | a0040c0018t0001g0128a0040c0018t0001g0157a0072c0046t0025g0120others(5): Show | 8 | 298 | 0.0269 | 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 |
a0065a0088a0103others(9): Show | a0065c0047a0088c0158a0103c0166others(9): Show | a0065c0047t0001a0088c0158t0001a0103c0166t0014others(9): Show | a0065c0047t0001g0114a0088c0158t0001g0012a0103c0166t0014g0006others(9): Show | 12 | 298 | 0.0403 | 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 | a0001c0001t0001g0254a0002c0002t0001g0132a0002c0002t0001g0142others(2): Show | 5 | 266 | 0.0188 | 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 |
a0011a0012a0014others(5): Show | a0011c0018a0012c0010a0014c0014others(5): Show | a0011c0018t0001a0012c0010t0002a0014c0014t0001others(5): Show | a0011c0018t0001g0010a0012c0010t0002g0253a0012c0010t0002g0260others(6): Show | 9 | 266 | 0.0338 | 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 |
a0013a0020a0024others(1): Show | a0013c0009a0020c0019a0024c0074others(2): Show | a0013c0009t0001a0020c0019t0001a0024c0074t0002others(2): Show | a0013c0009t0001g0111a0013c0009t0001g0115a0013c0009t0001g0116others(5): Show | 8 | 266 | 0.0301 | 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 |
a0001a0005a0008others(24): Show | a0001c0001a0001c0026a0001c0027others(34): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(36): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(96): Show | 99 | 266 | 0.3722 | 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 |
a0004a0018a0064others(2): Show | a0004c0004a0018c0011a0064c0072others(2): Show | a0004c0004t0001a0018c0011t0001a0064c0072t0001others(2): Show | a0004c0004t0001g0040a0004c0004t0001g0067a0004c0004t0001g0069others(6): Show | 9 | 266 | 0.0338 | 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 |
a0004a0007a0008others(10): Show | a0004c0083a0007c0009a0007c0048others(11): Show | a0004c0083t0001a0007c0009t0001a0007c0048t0001others(11): Show | a0004c0083t0001g0023a0007c0009t0001g0004a0007c0009t0001g0005others(21): Show | 24 | 240 | 0.1000 | 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 |
a0001a0010a0017others(3): Show | a0001c0001a0010c0010a0017c0015others(3): Show | a0001c0001t0001a0010c0010t0001a0017c0015t0001others(3): Show | a0001c0001t0001g0159a0010c0010t0001g0030a0010c0010t0001g0031others(8): Show | 11 | 240 | 0.0458 | 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 |
a0002a0003a0018others(6): Show | a0002c0003a0002c0089a0002c0094others(9): Show | a0002c0003t0001a0002c0089t0001a0002c0094t0001others(9): Show | a0002c0003t0001g0221a0002c0089t0001g0037a0002c0094t0001g0173others(9): Show | 12 | 252 | 0.0476 | 9 | c.239 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78553283 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01255.hp1 others(4): Show |
a0007a0030a0031others(3): Show | a0007c0004a0007c0223a0030c0162others(4): Show | a0007c0004t0001a0007c0223t0001a0030c0162t0002others(4): Show | a0007c0004t0001g0185a0007c0223t0001g0121a0030c0162t0002g0033others(4): Show | 7 | 252 | 0.0278 | 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 |
a0001a0016a0065others(1): Show | a0001c0006a0001c0018a0001c0021others(5): Show | a0001c0006t0001a0001c0006t0004a0001c0018t0003others(6): Show | a0001c0006t0001g0091a0001c0006t0004g0207a0001c0018t0003g0265others(8): Show | 11 | 316 | 0.0348 | 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 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0128others(4): Show | 7 | 234 | 0.0299 | 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 | a0001c0002t0001g0155a0001c0002t0001g0199a0001c0011t0002g0013others(1): Show | 4 | 234 | 0.0171 | 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 | a0002c0004t0001g0166a0002c0089t0001g0165a0003c0043t0003g0002others(10): Show | 13 | 234 | 0.0556 | 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 | a0001c0013t0001g0048a0001c0013t0001g0062a0001c0013t0001g0070others(51): Show | 54 | 234 | 0.2308 | 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(31): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0212others(31): Show | 34 | 234 | 0.1453 | 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 | a0001c0001t0001g0041a0001c0001t0001g0057a0001c0001t0001g0091others(6): Show | 9 | 116 | 0.0776 | 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 | a0007c0009t0001g0034a0007c0009t0001g0035a0007c0009t0001g0037others(2): Show | 5 | 116 | 0.0431 | 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 | a0001c0001t0001g0022a0001c0001t0001g0092a0001c0001t0001g0093others(35): Show | 38 | 284 | 0.1338 | 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 | a0001c0001t0001g0022a0001c0001t0001g0092a0001c0001t0001g0093others(111): Show | 114 | 284 | 0.4014 | 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 |
a0001a0008a0011others(3): Show | a0001c0007a0001c0031a0001c0036others(6): Show | a0001c0007t0001a0001c0031t0001a0001c0036t0001others(6): Show | a0001c0007t0001g0117a0001c0031t0001g0084a0001c0036t0001g0189others(6): Show | 9 | 284 | 0.0317 | 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 |
a0007a0010a0019others(12): Show | a0007c0012a0007c0019a0007c0066others(18): Show | a0007c0012t0001a0007c0012t0002a0007c0019t0001others(19): Show | a0007c0012t0001g0021a0007c0012t0001g0180a0007c0012t0001g0243others(30): Show | 33 | 284 | 0.1162 | 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 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0092others(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 |
a0016a0019a0025others(3): Show | a0016c0011a0019c0017a0025c0032others(3): Show | a0016c0011t0001a0019c0017t0001a0025c0032t0001others(3): Show | a0016c0011t0001g0073a0019c0017t0001g0014a0025c0032t0001g0100others(3): Show | 6 | 178 | 0.0337 | 9 | c.132 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 68/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |