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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMXL1_chr5_119066087_119254127 | 119184059 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01891.hp1 HG02055.hp2 others(13): Show |
a0001a0010a0011others(4): Show | a0001c0004a0010c0010a0011c0016others(4): Show | a0001c0004t0003a0010c0010t0007a0011c0016t0013others(4): Show | a0001c0004t0003g0005 a0001c0004t0003g0007 a0001c0004t0003g0008 others(13): Show |
16 | 238 | 0.0672 | 11 | c.713 others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51601290 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01261.hp1 others(15): Show |
a0001a0002a0004 | a0001c0010a0002c0002a0002c0004others(3): Show | a0001c0010t0002a0002c0002t0001a0002c0004t0001others(3): Show | a0001c0010t0002g0277 a0001c0010t0002g0281 a0001c0010t0002g0282 others(15): Show |
18 | 346 | 0.0520 | 11 | c.87+ others(28): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68437669 | A | AAAAACAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01433.hp1 HG01884.hp1 others(22): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0004a0001c0004t0004others(5): Show | a0001c0001t0001g0090 a0001c0001t0001g0298 a0001c0001t0001g0309 others(22): Show |
25 | 326 | 0.0767 | 11 | c.141 others(28): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68464829 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0023 | a0007c0023t0005 | a0007c0023t0005g0034 | 1 | 326 | 0.0031 | 11 | c.587 others(26): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG02015.hp1 HG02071.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0021a0001c0007t0036a0002c0002t0003others(3): Show | a0001c0001t0021g0080 a0001c0001t0021g0266 a0001c0007t0036g0269 others(16): Show |
25 | 432 | 0.0579 | 11 | c.*42 others(22): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | |||||||
DNAAF11_chr8_132565416_132680545 | 132593362 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 276 | 0.0036 | 11 | c.114 others(30): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(4): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0149 | 1 | 456 | 0.0022 | 11 | c.125 others(26): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 456 | 0.0022 | 11 | c.125 others(26): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55446296 | C | CCGGGGGG others(4): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0254 | 1 | 338 | 0.0030 | 11 | c.783 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55446296 | C | CGGCGGGG others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02922.hp1 others(1): Show |
a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0324 a0005c0004t0003g0326 a0005c0004t0003g0327 others(1): Show |
4 | 338 | 0.0118 | 11 | c.783 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55448517 | A | AAAGGGGT others(4): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0030 | 1 | 338 | 0.0030 | 11 | c.783 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55448517 | A | AAAGGTGT others(4): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 338 | 0.0030 | 11 | c.783 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55498593 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(11): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0002 | a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 others(11): Show |
14 | 338 | 0.0414 | 11 | c.-25 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107229127 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03486.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0004g0133 |
3 | 296 | 0.0101 | 11 | c.429 others(28): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAAF8_chr16_4729537_4754396 | 4739265 | G | GGTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18964.hp1 NA19085.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 others(1): Show |
4 | 386 | 0.0104 | 11 | c.277 others(26): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
DNAAF8_chr16_4729537_4754396 | 4739265 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0013a0002c0002a0002c0007others(5): Show | a0001c0013t0006a0002c0002t0001a0002c0007t0001others(5): Show | a0001c0013t0006g0108 a0001c0013t0006g0109 a0002c0002t0001g0001 others(31): Show |
79 | 386 | 0.2047 | 11 | c.277 others(26): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3247159 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0349 | 1 | 362 | 0.0028 | 11 | c.*54 others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 2146 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3310331 | G | GAAAAAGA others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02683.hp1 NA19080.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005 | a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0005g0015 others(1): Show |
4 | 362 | 0.0111 | 11 | c.167 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 362 | 0.0028 | 11 | c.167 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3311995 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0118 a0001c0002t0002g0119 |
2 | 362 | 0.0055 | 11 | c.167 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3311995 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 | 1 | 362 | 0.0028 | 11 | c.167 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3336252 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03942.hp1 HG04199.hp1 NA18953.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0022 | a0001c0003t0004g0011 a0001c0003t0005g0335 a0001c0003t0005g0358 others(1): Show |
4 | 362 | 0.0111 | 11 | c.982 others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3387884 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02970.hp2 NA18943.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0019 | a0001c0004t0003g0085 a0001c0004t0003g0100 a0001c0004t0019g0077 |
3 | 362 | 0.0083 | 11 | c.84- others(26): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123765561 | A | ATCTATCT others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02970.hp1 HG02976.hp2 others(4): Show |
a0005a0008a0020others(4): Show | a0005c0065a0008c0009a0020c0077others(4): Show | a0005c0065t0001a0008c0009t0002a0020c0077t0002others(4): Show | a0005c0065t0001g0042 a0008c0009t0002g0149 a0020c0077t0002g0163 others(4): Show |
7 | 170 | 0.0412 | 11 | c.215 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | chr12 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123797376 | C | CTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01074.hp1 others(6): Show |
a0001a0003a0035others(2): Show | a0001c0003a0003c0005a0003c0054others(3): Show | a0001c0003t0002a0003c0005t0002a0003c0054t0002others(3): Show | a0001c0003t0002g0097 a0003c0005t0002g0053 a0003c0005t0002g0070 others(6): Show |
9 | 170 | 0.0529 | 11 | c.216 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 13/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123866229 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01934.hp1 HG04184.hp1 |
a0001a0063 | a0001c0001a0063c0056 | a0001c0001t0001a0063c0056t0001 | a0001c0001t0001g0099 a0063c0056t0001g0073 |
2 | 170 | 0.0118 | 11 | c.716 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 41/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21545274 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0158 | a0158c0045 | a0158c0045t0025 | a0158c0045t0025g0120 | 1 | 298 | 0.0034 | 11 | c.495 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21597133 | G | GCCTGGAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(228): Show |
a0001a0002a0005others(174): Show | a0001c0089a0001c0090a0001c0106others(212): Show | a0001c0089t0020a0001c0090t0002a0001c0106t0002others(214): Show | a0001c0089t0020g0027 a0001c0090t0002g0015 a0001c0106t0002g0067 others(228): Show |
231 | 298 | 0.7752 | 11 | c.266 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21726935 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(63): Show |
a0002a0004a0005others(50): Show | a0002c0001a0002c0002a0004c0083others(54): Show | a0002c0001t0004a0002c0002t0004a0004c0083t0001others(55): Show | a0002c0001t0004g0253 a0002c0001t0004g0277 a0002c0002t0004g0296 others(63): Show |
66 | 298 | 0.2215 | 11 | c.744 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21726938 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0174 | a0174c0030 | a0174c0030t0004 | a0174c0030t0004g0268 | 1 | 298 | 0.0034 | 11 | c.744 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21747046 | A | ATTAGAGG others(4): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0011 | a0011c0269 | a0011c0269t0002 | a0011c0269t0002g0150 | 1 | 298 | 0.0034 | 11 | c.851 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 51/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789793 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03540.hp1 NA19057.hp1 |
a0007a0023a0040 | a0007c0213a0023c0219a0040c0151 | a0007c0213t0001a0023c0219t0002a0040c0151t0003 | a0007c0213t0001g0216 a0023c0219t0002g0130 a0040c0151t0003g0104 |
3 | 298 | 0.0101 | 11 | c.100 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21848166 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0155 | a0155c0172 | a0155c0172t0005 | a0155c0172t0005g0016 | 1 | 298 | 0.0034 | 11 | c.108 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 66/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302529 | G | GTTATATA others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG04115.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0177 a0002c0002t0001g0262 |
2 | 266 | 0.0075 | 11 | c.111 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01943.hp2 others(22): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0026a0002c0002others(9): Show | a0001c0001t0001a0001c0026t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0149 a0001c0001t0001g0184 a0001c0001t0001g0195 others(22): Show |
25 | 266 | 0.0940 | 11 | c.111 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302568 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03453.hp2 |
a0008a0021 | a0008c0017a0021c0019 | a0008c0017t0001a0021c0019t0001 | a0008c0017t0001g0080 a0021c0019t0001g0113 |
2 | 266 | 0.0075 | 11 | c.111 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0113 | 1 | 266 | 0.0038 | 11 | c.997 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57371941 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02258.hp2 others(7): Show |
a0004a0008a0011others(6): Show | a0004c0004a0008c0008a0011c0010others(6): Show | a0004c0004t0001a0008c0008t0002a0011c0010t0002others(6): Show | a0004c0004t0001g0068 a0008c0008t0002g0078 a0011c0010t0002g0253 others(7): Show |
10 | 266 | 0.0376 | 11 | c.875 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57438918 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01169.hp2 HG01243.hp1 others(30): Show |
a0004a0008a0012others(22): Show | a0004c0004a0008c0008a0008c0016others(24): Show | a0004c0004t0001a0008c0008t0002a0008c0016t0001others(24): Show | a0004c0004t0001g0094 a0008c0008t0002g0046 a0008c0008t0002g0081 others(30): Show |
33 | 266 | 0.1241 | 11 | c.454 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 29/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57450250 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01243.hp2 others(23): Show |
a0004a0013a0028others(6): Show | a0004c0004a0013c0011a0028c0021others(6): Show | a0004c0004t0001a0013c0011t0001a0028c0021t0001others(6): Show | a0004c0004t0001g0038 a0004c0004t0001g0040 a0004c0004t0001g0067 others(23): Show |
26 | 266 | 0.0977 | 11 | c.378 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 25/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57483375 | C | CATAGTGA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18940.hp1 | a0062 | a0062c0051 | a0062c0051t0001 | a0062c0051t0001g0239 | 1 | 266 | 0.0038 | 11 | c.165 others(22): Show |
p.Glu others(5): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 13/74 | 1831/12145 | 1650/11883 | 550/3960 | chr3 | TogoVar | |||
DNAH12_chr3_57288700_57549344 | 57499630 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0037 | a0037c0095 | a0037c0095t0003 | a0037c0095t0003g0002 | 1 | 266 | 0.0038 | 11 | c.133 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0010 | a0010c0025 | a0010c0025t0003 | a0010c0025t0003g0004 | 1 | 266 | 0.0038 | 11 | c.133 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57538923 | A | ACCCCCCA others(4): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0040 | 1 | 266 | 0.0038 | 11 | c.170 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 2/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 224953129 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(44): Show |
a0003a0005a0009others(16): Show | a0003c0003a0003c0025a0003c0073others(19): Show | a0003c0003t0001a0003c0003t0002a0003c0025t0002others(20): Show | a0003c0003t0001g0041 a0003c0003t0001g0048 a0003c0003t0001g0052 others(44): Show |
47 | 240 | 0.1958 | 11 | c.77+ others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 2/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 224991084 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG06807.hp1 others(1): Show |
a0015a0031a0045others(1): Show | a0015c0013a0031c0058a0045c0081others(1): Show | a0015c0013t0001a0031c0058t0001a0045c0081t0001others(1): Show | a0015c0013t0001g0228 a0031c0058t0001g0224 a0045c0081t0001g0218 others(1): Show |
4 | 240 | 0.0167 | 11 | c.831 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078825 | C | CTCTCTCT others(4): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0070 | a0070c0076 | a0070c0076t0001 | a0070c0076t0001g0001 | 1 | 240 | 0.0042 | 11 | c.242 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | chr1 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225274194 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG04184.hp1 |
a0032a0091 | a0032c0034a0091c0122 | a0032c0034t0001a0091c0122t0001 | a0032c0034t0001g0089 a0032c0034t0001g0090 a0091c0122t0001g0091 |
3 | 240 | 0.0125 | 11 | c.801 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290692 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0151 | 1 | 240 | 0.0042 | 11 | c.846 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225357599 | A | AATATGTG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(135): Show |
a0001a0003a0005others(56): Show | a0001c0001a0001c0008a0003c0003others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(67): Show | a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 others(135): Show |
138 | 240 | 0.5750 | 11 | c.116 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 73/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |