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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMXL1_chr5_119066087_119254127 | 119167872 | G | A | splice_region_variant others(1): Show |
LOW | HG02895.hp2 HG02896.hp2 HG02897.hp1 |
a0009 | a0009c0010 | a0009c0010t0007 | a0009c0010t0007g0002a0009c0010t0007g0003a0009c0010t0007g0004 | 3 | 238 | 0.0126 | 0 | c.539 others(6): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 23/43 | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119177989 | G | A | splice_region_variant others(1): Show |
LOW | HG03491.hp2 HG03831.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0066a0002c0003t0001g0072 | 2 | 238 | 0.0084 | 0 | c.688 others(6): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 27/43 | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51456367 | A | G | splice_region_variant others(1): Show |
LOW | HG00642.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0126 | 1 | 346 | 0.0029 | 0 | c.834 others(4): Show |
p.Leu others(7): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 38/44 | 8566/10596 | 8340/9177 | 2780/3058 | chr15 | TogoVar | ||
DMXL2_chr15_51442791_51627771 | 51474599 | G | A | splice_region_variant others(1): Show |
LOW | NA19240.hp2 | a0003 | a0003c0023 | a0003c0023t0003 | a0003c0023t0003g0007 | 1 | 346 | 0.0029 | 0 | c.696 others(6): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 27/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51486065 | C | T | splice_region_variant others(1): Show |
LOW | NA21309.hp1 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0134 | 1 | 346 | 0.0029 | 0 | c.548 others(6): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 23/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51547222 | C | A | splice_region_variant others(1): Show |
LOW | NA19003.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0172 | 1 | 346 | 0.0029 | 0 | c.746 others(5): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 7/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAA | splice_region_variant others(1): Show |
LOW | HG01255.hp1 HG01257.hp1 HG02056.hp1 others(36): Show |
a0001a0014 | a0001c0001a0001c0007a0014c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0139a0001c0001t0002g0161a0001c0001t0002g0165others(36): Show | 39 | 346 | 0.1127 | 3 | c.88- others(12): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAA | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG01496.hp1 HG02055.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0011 | a0001c0001t0002a0001c0019t0001a0002c0011t0002 | a0001c0001t0002g0162a0001c0001t0002g0163a0001c0001t0002g0183others(6): Show | 9 | 346 | 0.0260 | 4 | c.88- others(13): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA | splice_region_variant others(1): Show |
LOW | HG01255.hp2 HG02922.hp2 HG04204.hp1 others(19): Show |
a0002a0013a0017 | a0002c0004a0013c0034a0017c0024 | a0002c0004t0001a0002c0004t0008a0013c0034t0007others(1): Show | a0002c0004t0001g0006a0002c0004t0001g0297a0002c0004t0001g0298others(18): Show | 22 | 346 | 0.0636 | 7 | c.88- others(16): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(6): Show |
splice_region_variant others(1): Show |
LOW | HG02630.hp2 HG02723.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0010a0002c0002a0002c0008 | a0001c0010t0002a0002c0002t0001a0002c0008t0001 | a0001c0010t0002g0276a0002c0002t0001g0244a0002c0002t0001g0245others(6): Show | 9 | 346 | 0.0260 | 13 | c.88- others(23): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(7): Show |
splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG00738.hp1 HG00741.hp2 others(43): Show |
a0001a0002a0009others(1): Show | a0001c0010a0002c0002a0002c0008others(4): Show | a0001c0010t0002a0002c0002t0001a0002c0002t0006others(6): Show | a0001c0010t0002g0277a0001c0010t0002g0281a0001c0010t0002g0282others(42): Show | 46 | 346 | 0.1330 | 14 | c.88- others(24): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(8): Show |
splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00609.hp1 HG01070.hp1 others(14): Show |
a0002a0012 | a0002c0002a0002c0031a0012c0030 | a0002c0002t0001a0002c0031t0001a0012c0030t0001 | a0002c0002t0001g0216a0002c0002t0001g0217a0002c0002t0001g0227others(14): Show | 17 | 346 | 0.0491 | 15 | c.88- others(25): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(9): Show |
splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(19): Show |
a0002a0016 | a0002c0002a0002c0006a0016c0025 | a0002c0002t0001a0002c0002t0012a0002c0006t0001others(1): Show | a0002c0002t0001g0219a0002c0002t0001g0234a0002c0002t0001g0235others(17): Show | 22 | 346 | 0.0636 | 16 | c.88- others(26): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(10): Show |
splice_region_variant others(1): Show |
LOW | HG02080.hp2 HG02451.hp2 HG02622.hp2 others(13): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0006a0004c0005others(3): Show | a0002c0002t0001a0002c0006t0001a0004c0005t0001others(4): Show | a0002c0002t0001g0238a0002c0002t0001g0293a0002c0002t0001g0295others(13): Show | 16 | 346 | 0.0462 | 17 | c.88- others(27): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(11): Show |
splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02717.hp2 NA18942.hp1 others(2): Show |
a0002a0004a0005 | a0002c0002a0004c0005a0005c0015 | a0002c0002t0001a0004c0005t0001a0005c0015t0004 | a0002c0002t0001g0225a0004c0005t0001g0320a0004c0005t0001g0324others(2): Show | 5 | 346 | 0.0145 | 18 | c.88- others(28): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(12): Show |
splice_region_variant others(1): Show |
LOW | HG00597.hp2 NA18952.hp1 NA19005.hp2 others(2): Show |
a0004a0005 | a0004c0005a0005c0009 | a0004c0005t0001a0005c0009t0004 | a0004c0005t0001g0208a0004c0005t0001g0209a0004c0005t0001g0321others(2): Show | 5 | 346 | 0.0145 | 19 | c.88- others(29): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(13): Show |
splice_region_variant others(1): Show |
LOW | NA18975.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0322 | 1 | 346 | 0.0029 | 20 | c.88- others(30): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(15): Show |
splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG03516.hp2 NA20129.hp1 |
a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0158a0006c0012t0001g0159a0006c0012t0001g0160 | 3 | 346 | 0.0087 | 22 | c.88- others(31): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68422433 | A | C | splice_region_variant others(1): Show |
LOW | NA18747.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0045 | 1 | 326 | 0.0031 | 0 | c.249 others(6): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 16/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68422511 | A | G | splice_region_variant others(1): Show |
LOW | NA18981.hp1 NA18998.hp1 NA19068.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103a0001c0002t0001g0107a0001c0002t0001g0108others(1): Show | 4 | 326 | 0.0123 | 0 | c.249 others(6): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 16/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68432508 | T | C | missense_variant others(1): Show |
MODERATE | HG03516.hp2 NA20129.hp1 |
a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0174a0004c0012t0002g0220 | 2 | 326 | 0.0061 | 0 | c.164 others(4): Show |
p.Asn others(6): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 11/21 | 1758/4267 | 1649/3183 | 550/1060 | chr10 | TogoVar | ||
DNA2_chr10_68409064_68476973 | 68442909 | C | T | splice_region_variant others(1): Show |
LOW | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0058 | 1 | 326 | 0.0031 | 0 | c.141 others(6): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68450247 | C | A | splice_region_variant others(1): Show |
LOW | HG02809.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0031a0001c0009t0004g0032a0001c0009t0004g0033 | 3 | 326 | 0.0092 | 0 | c.720 others(3): Show |
p.Leu others(6): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 6/21 | 829/4267 | 720/3183 | 240/1060 | chr10 | TogoVar | ||
DNA2_chr10_68409064_68476973 | 68471789 | ACAGCTCC others(5): Show |
A | frameshift_variant others(3): Show |
HIGH | HG04115.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0322 | 1 | 326 | 0.0031 | -12 | c.64_ others(19): Show |
p.Pro others(4): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 1/21 | 64/3183 | 22/1060 | chr10 | TogoVar | |||
DNAAF11_chr8_132565416_132680545 | 132583688 | T | C | splice_region_variant others(1): Show |
LOW | HG02818.hp2 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032a0002c0002t0001g0033 | 2 | 276 | 0.0073 | 0 | c.122 others(6): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 11/11 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84174729 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0002a0006a0007others(7): Show | a0002c0002a0006c0006a0006c0033others(8): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(10): Show | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0020others(129): Show | 136 | 456 | 0.2983 | 0 | c.169 others(6): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 10/11 | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84176297 | C | T | missense_variant others(1): Show |
MODERATE | NA18969.hp2 | a0032 | a0032c0041 | a0032c0041t0001 | a0032c0041t0001g0266 | 1 | 456 | 0.0022 | 0 | c.206 others(4): Show |
p.Pro others(6): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 11/12 | 2196/2388 | 2063/2178 | 688/725 | chr16 | TogoVar | ||
DNAAF1_chr16_84140308_84182918 | 84176298 | G | A | splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0007 | a0007c0038 | a0007c0038t0004 | a0007c0038t0004g0411 | 1 | 456 | 0.0022 | 0 | c.206 others(4): Show |
p.Pro others(6): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 11/12 | 2197/2388 | 2064/2178 | 688/725 | chr16 | TogoVar | ||
DNAAF3_chr19_55153665_55171613 | 55159457 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(210): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0010others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(7): Show | a0001c0001t0001g0051a0001c0001t0001g0113a0001c0001t0001g0122others(91): Show | 213 | 398 | 0.5352 | 0 | c.123 others(6): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 11/11 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55159615 | G | A | splice_region_variant others(1): Show |
LOW | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 398 | 0.0025 | 0 | c.116 others(6): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 10/11 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55160611 | TGGCTTAC others(15): Show |
T | splice_region_variant others(1): Show |
LOW | NA18955.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0083 | 1 | 398 | 0.0025 | -22 | c.104 others(36): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 9/11 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55161416 | A | G | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00639.hp2 HG00735.hp2 others(76): Show |
a0002a0004a0006 | a0002c0003a0002c0006a0004c0005others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0006t0001others(2): Show | a0002c0003t0001g0009a0002c0003t0001g0010a0002c0003t0001g0012others(46): Show | 79 | 398 | 0.1985 | 0 | c.666 others(3): Show |
p.Ala others(6): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 7/12 | 761/2118 | 666/1626 | 222/541 | chr19 | TogoVar | ||
DNAAF3_chr19_55153665_55171613 | 55162293 | AC | A | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02055.hp1 HG02809.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0031a0002c0003t0001g0153a0002c0003t0001g0154 | 5 | 398 | 0.0126 | -1 | c.323 others(6): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55166417 | C | T | splice_region_variant | LOW | HG03486.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0059 | 1 | 398 | 0.0025 | 0 | c.-4G others(2): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 2/12 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55166518 | C | A | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG03209.hp2 HG03579.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0056a0004c0005t0001g0163a0004c0005t0001g0164 | 4 | 398 | 0.0101 | 0 | c.-5+ others(4): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55497712 | C | T | missense_variant others(1): Show |
MODERATE | HG00280.hp1 HG00735.hp1 HG02257.hp1 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0008a0006c0006t0001g0052a0006c0006t0001g0053others(5): Show | 8 | 338 | 0.0237 | 0 | c.271 others(3): Show |
p.Val others(5): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 3/10 | 639/1993 | 271/1263 | 91/420 | chr15 | TogoVar | ||
DNAAF5_chr7_721699_791475 | 741343 | T | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0024others(19): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(31): Show | a0001c0001t0003g0320a0001c0001t0004g0157a0001c0001t0004g0158others(219): Show | 243 | 378 | 0.6429 | 0 | c.906 others(5): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107243157 | GT | G | splice_region_variant others(1): Show |
LOW | NA18948.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183a0001c0001t0002g0189 | 2 | 296 | 0.0068 | -1 | c.516 others(6): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF8_chr16_4729537_4754396 | 4737792 | G | C | splice_region_variant others(1): Show |
LOW | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 386 | 0.0026 | 0 | c.130 others(5): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 2/9 | chr16 | TogoVar | ||||||
DNAAF8_chr16_4729537_4754396 | 4740659 | G | A | splice_region_variant others(1): Show |
LOW | HG03098.hp1 | a0011 | a0011c0028 | a0011c0028t0002 | a0011c0028t0002g0192 | 1 | 386 | 0.0026 | 0 | c.783 others(3): Show |
p.Gln others(6): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 4/10 | 996/2457 | 783/1563 | 261/520 | chr16 | TogoVar | ||
DNAAF8_chr16_4729537_4754396 | 4744872 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0002a0003a0004others(8): Show | a0002c0002a0002c0007a0002c0011others(12): Show | a0002c0002t0001a0002c0002t0009a0002c0007t0001others(16): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0011others(108): Show | 212 | 386 | 0.5492 | 0 | c.904 others(3): Show |
p.Arg others(6): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 6/10 | 1117/2457 | 904/1563 | 302/520 | chr16 | TogoVar | ||
DNAAF8_chr16_4729537_4754396 | 4746516 | C | T | splice_region_variant others(1): Show |
LOW | NA18964.hp1 NA19085.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100a0002c0002t0001g0102 | 2 | 386 | 0.0052 | 0 | c.118 others(6): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 7/9 | chr16 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3287793 | G | A | splice_region_variant others(1): Show |
LOW | HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0051a0001c0003t0004g0055 | 2 | 362 | 0.0055 | 0 | c.232 others(6): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 26/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3296955 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(76): Show |
a0001a0005a0007others(2): Show | a0001c0003a0001c0006a0005c0022others(3): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(11): Show | a0001c0003t0004g0007a0001c0003t0004g0011a0001c0003t0004g0013others(76): Show | 79 | 362 | 0.2182 | 0 | c.193 others(6): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 22/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3318407 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(88): Show |
a0001a0005a0007others(2): Show | a0001c0003a0001c0006a0001c0008others(5): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0006others(15): Show | a0001c0003t0004g0007a0001c0003t0004g0011a0001c0003t0004g0013others(88): Show | 91 | 362 | 0.2514 | 0 | c.135 others(6): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 16/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3340638 | G | C | missense_variant others(1): Show |
MODERATE | HG03490.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0236 | 1 | 362 | 0.0028 | 0 | c.847 others(3): Show |
p.Pro others(6): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/37 | 959/6912 | 847/3534 | 283/1177 | chr20 | TogoVar | ||
DNAH10_chr12_123757301_123940714 | 123789927 | A | G | missense_variant others(1): Show |
MODERATE | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(139): Show |
a0001a0003a0004others(60): Show | a0001c0001a0001c0002a0001c0003others(80): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(80): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0026others(139): Show | 142 | 170 | 0.8353 | 0 | c.162 others(4): Show |
p.Ile others(6): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 11/79 | 1657/14039 | 1621/13770 | 541/4589 | chr12 | TogoVar | ||
DNAH10_chr12_123757301_123940714 | 123845972 | A | G | missense_variant others(1): Show |
MODERATE | HG01109.hp2 | a0064 | a0064c0076 | a0064c0076t0002 | a0064c0076t0002g0021 | 1 | 170 | 0.0059 | 0 | c.563 others(4): Show |
p.Ile others(7): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/79 | 5668/14039 | 5632/13770 | 1878/4589 | chr12 | TogoVar | ||
DNAH10_chr12_123757301_123940714 | 123848094 | G | A | missense_variant others(1): Show |
MODERATE | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(15): Show |
a0005a0011a0012others(7): Show | a0005c0007a0005c0065a0011c0028others(9): Show | a0005c0007t0002a0005c0065t0001a0011c0028t0001others(9): Show | a0005c0007t0002g0006a0005c0007t0002g0007a0005c0007t0002g0036others(15): Show | 18 | 170 | 0.1059 | 0 | c.594 others(4): Show |
p.Arg others(7): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 33/79 | 5984/14039 | 5948/13770 | 1983/4589 | chr12 | TogoVar | ||
DNAH10_chr12_123757301_123940714 | 123875490 | C | T | missense_variant others(1): Show |
MODERATE | HG02027.hp2 HG02486.hp1 HG02630.hp2 others(5): Show |
a0006a0032a0045others(1): Show | a0006c0026a0006c0027a0006c0083others(3): Show | a0006c0026t0002a0006c0027t0001a0006c0083t0001others(3): Show | a0006c0026t0002g0079a0006c0026t0002g0081a0006c0027t0001g0115others(5): Show | 8 | 170 | 0.0471 | 0 | c.819 others(4): Show |
p.Ser others(7): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 47/79 | 8234/14039 | 8198/13770 | 2733/4589 | chr12 | TogoVar |