| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DMD_chrX_31114222_33216549 | 32949251 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0023 | 1 | 126 | 0.0079 | -18 | c.93+ others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32983558 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02976.hp2 others(2): Show |
a0003a0005a0022others(2): Show | a0003c0008a0005c0057a0022c0025others(2): Show | a0003c0008t0012a0005c0057t0001a0022c0025t0006others(2): Show | a0003c0008t0012g0117a0005c0057t0001g0109a0022c0025t0006g0108others(2): Show | 5 | 126 | 0.0397 | -18 | c.93+ others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33009242 | ATGTGCAT others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
a0002a0003a0005others(2): Show | a0002c0026a0003c0008a0005c0053others(2): Show | a0002c0026t0006a0003c0008t0012a0005c0053t0004others(2): Show | a0002c0026t0006g0111a0003c0008t0012g0117a0005c0053t0004g0103others(2): Show | 5 | 126 | 0.0397 | -18 | c.93+ others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33070667 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0031 | a0010c0031t0001 | a0010c0031t0001g0096 | 1 | 126 | 0.0079 | -18 | c.32- others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33070669 | CTCTCTAT others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0005 | 1 | 126 | 0.0079 | -18 | c.32- others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33070673 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0122 | 1 | 126 | 0.0079 | -18 | c.32- others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33195732 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02129.hp1 HG02257.hp1 others(17): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0054others(14): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0003others(16): Show | a0001c0001t0004g0101a0001c0002t0001g0105a0001c0002t0003g0113others(17): Show | 20 | 126 | 0.1587 | -18 | c.31+ others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
| DMGDH_chr5_78992564_79074674 | 79050261 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02155.hp1 NA18942.hp1 others(11): Show |
a0001a0008 | a0001c0001a0008c0014 | a0001c0001t0001a0001c0001t0002a0008c0014t0001 | a0001c0001t0001g0188a0001c0001t0001g0191a0001c0001t0001g0211others(8): Show | 14 | 372 | 0.0376 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
| DMGDH_chr5_78992564_79074674 | 79050263 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0029others(27): Show | 35 | 372 | 0.0941 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
| DMGDH_chr5_78992564_79074674 | 79050265 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02965.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0013a0004c0005 | a0001c0001t0001a0001c0013t0001a0004c0005t0001 | a0001c0001t0001g0175a0001c0001t0001g0206a0001c0001t0001g0207others(6): Show | 9 | 372 | 0.0242 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
| DMGDH_chr5_78992564_79074674 | 79050267 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02735.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0108 | 3 | 372 | 0.0081 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
| DMGDH_chr5_78992564_79074674 | 79050269 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG03017.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0164 | 2 | 372 | 0.0054 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
| DMP1_chr4_87645280_87669357 | 87653386 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0197 | 1 | 430 | 0.0023 | -18 | c.-22 others(35): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DMP1_chr4_87645280_87669357 | 87661204 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0082 | 1 | 430 | 0.0023 | -18 | c.184 others(33): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DMP1_chr4_87645280_87669357 | 87665256 | TTGTGTGT others(11): Show |
T | downstream_gene_variant | MODIFIER | NA18983.hp2 NA19090.hp1 |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0023 | 2 | 430 | 0.0047 | -18 | c.*19 others(29): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 900 | chr4 | TogoVar | ||||||
| DMP1_chr4_87645280_87669357 | 87667366 | TATATATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00735.hp2 others(51): Show |
a0001a0008 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0008a0001c0003t0002others(3): Show | a0001c0002t0003g0109a0001c0002t0008g0068a0001c0003t0002g0008others(32): Show | 54 | 430 | 0.1256 | -18 | c.*40 others(29): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 3010 | chr4 | TogoVar | ||||||
| DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0007a0001c0001t0029a0001c0003t0009others(1): Show | a0001c0001t0007g0014a0001c0001t0007g0044a0001c0001t0007g0056others(7): Show | 20 | 416 | 0.0481 | -18 | c.*26 others(27): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 266 | chr19 | TogoVar | |||||
| DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0015 | a0001c0001t0008g0158a0001c0001t0008g0159a0001c0001t0008g0174others(2): Show | 5 | 306 | 0.0163 | -18 | c.823 others(35): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DMRTC1B_chrX_72771890_72853803 | 72840165 | CAAAGCAA others(11): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0015 | 1 | 26 | 0.0385 | -18 | c.-94 others(35): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DMRTC2_chr19_41840042_41857333 | 41843061 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 402 | 0.0025 | -18 | c.-20 others(29): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1980 | chr19 | TogoVar | ||||||
| DMTN_chr8_22051814_22087525 | 22073639 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG02451.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0010a0004c0005t0001others(1): Show | a0001c0001t0003g0087a0001c0001t0010g0114a0004c0005t0001g0012others(1): Show | 4 | 324 | 0.0124 | -18 | c.730 others(31): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DMXL1_chr5_119066087_119254127 | 119077652 | GTATATGT others(11): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 238 | 0.0042 | -18 | c.87+ others(33): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01516.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0173 | 3 | 238 | 0.0126 | -18 | c.88- others(33): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DMXL1_chr5_119066087_119254127 | 119091785 | ACCTGTGG others(11): Show |
A | intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0059 | 1 | 238 | 0.0042 | -18 | c.88- others(33): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | chr5 | TogoVar | ||||||
| DMXL2_chr15_51442791_51627771 | 51566232 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0222a0002c0014t0001g0223 | 2 | 346 | 0.0058 | -18 | c.286 others(35): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
| DMXL2_chr15_51442791_51627771 | 51605517 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01255.hp1 HG02055.hp1 others(44): Show |
a0001a0006a0014 | a0001c0001a0001c0007a0006c0012others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0007t0002others(2): Show | a0001c0001t0002g0161a0001c0001t0002g0162a0001c0001t0002g0163others(44): Show | 47 | 346 | 0.1358 | -18 | c.87+ others(35): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
| DNA2_chr10_68409064_68476973 | 68448950 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | NA18995.hp1 NA19077.hp1 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0003a0001c0017t0003 | a0001c0003t0003g0046a0001c0017t0003g0056 | 2 | 326 | 0.0061 | -18 | c.939 others(35): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 6/20 | chr10 | TogoVar | ||||||
| DNAAF2_chr14_49620174_49640244 | 49620592 | GCAGCTCT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 NA18955.hp1 NA19011.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0074a0004c0005t0001g0075a0004c0005t0001g0076others(1): Show | 4 | 352 | 0.0114 | -18 | c.*49 others(29): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 4581 | chr14 | TogoVar | ||||||
| DNAAF5_chr7_721699_791475 | 742292 | CATCAGAT others(11): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0010 | a0003c0010t0005 | a0003c0010t0005g0260 | 1 | 378 | 0.0027 | -18 | c.102 others(35): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAAF9_chr20_3244306_3412669 | 3344590 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG03225.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0006others(1): Show | a0001c0003t0004g0024a0001c0003t0004g0025a0001c0003t0005g0339others(4): Show | 7 | 362 | 0.0193 | -18 | c.790 others(33): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 8/36 | chr20 | TogoVar | ||||||
| DNAAF9_chr20_3244306_3412669 | 3350138 | CAGACACA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0044a0001c0003t0009g0045 | 2 | 362 | 0.0055 | -18 | c.691 others(35): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
| DNAH10_chr12_123757301_123940714 | 123896142 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0045 | a0045c0049 | a0045c0049t0001 | a0045c0049t0001g0078 | 1 | 170 | 0.0059 | -18 | c.928 others(37): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DNAH10_chr12_123757301_123940714 | 123921691 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0045 | a0045c0049 | a0045c0049t0001 | a0045c0049t0001g0078 | 1 | 170 | 0.0059 | -18 | c.115 others(39): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 65/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DNAH11_chr7_21538039_21906839 | 21638691 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0277 | 1 | 298 | 0.0034 | -18 | c.481 others(35): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 27/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAH11_chr7_21538039_21906839 | 21765610 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(90): Show |
a0002a0003a0004others(67): Show | a0002c0090a0002c0091a0002c0107others(86): Show | a0002c0090t0020a0002c0091t0002a0002c0107t0002others(87): Show | a0002c0090t0020g0027a0002c0091t0002g0015a0002c0107t0002g0067others(90): Show | 93 | 298 | 0.3121 | -18 | c.910 others(33): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 55/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAH11_chr7_21538039_21906839 | 21871819 | TATTGGTT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(135): Show |
a0001a0003a0004others(110): Show | a0001c0001a0001c0002a0001c0051others(124): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(124): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(135): Show | 138 | 298 | 0.4631 | -18 | c.119 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNAH12_chr3_57288700_57549344 | 57301677 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03195.hp1 NA19068.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0133a0004c0004t0001g0038 | 2 | 266 | 0.0075 | -18 | c.113 others(35): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57427138 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0107 | 1 | 266 | 0.0038 | -18 | c.525 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57499645 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0057 | 1 | 266 | 0.0038 | -18 | c.133 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp2 others(16): Show |
a0007a0017a0019others(7): Show | a0007c0008a0007c0016a0007c0017others(11): Show | a0007c0008t0002a0007c0016t0001a0007c0017t0001others(11): Show | a0007c0008t0002g0046a0007c0008t0002g0078a0007c0008t0002g0081others(16): Show | 19 | 266 | 0.0714 | -18 | c.279 others(35): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | ||||||
| DNAH14_chr1_224924675_225404286 | 225078768 | ATCTCTCT others(11): Show |
A | intron_variant | MODIFIER | HG03225.hp1 NA18522.hp2 |
a0024a0072 | a0024c0056a0072c0079 | a0024c0056t0001a0072c0079t0001 | a0024c0056t0001g0224a0072c0079t0001g0221 | 2 | 240 | 0.0083 | -18 | c.242 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH14_chr1_224924675_225404286 | 225078807 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0022 | a0022c0023 | a0022c0023t0001 | a0022c0023t0001g0077 | 1 | 240 | 0.0042 | -18 | c.242 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH14_chr1_224924675_225404286 | 225094677 | AACAACAA others(11): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp1 HG03139.hp2 |
a0025a0067a0111 | a0025c0021a0067c0061a0111c0119 | a0025c0021t0001a0067c0061t0001a0111c0119t0001 | a0025c0021t0001g0019a0067c0061t0001g0024a0111c0119t0001g0240 | 3 | 240 | 0.0125 | -18 | c.357 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH14_chr1_224924675_225404286 | 225149062 | CTTCCAGG others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0010a0017a0078others(4): Show | a0010c0010a0017c0015a0078c0089others(4): Show | a0010c0010t0001a0017c0015t0001a0078c0089t0001others(4): Show | a0010c0010t0001g0030a0010c0010t0001g0031a0010c0010t0001g0032others(9): Show | 12 | 240 | 0.0500 | -18 | c.494 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 31/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG02572.hp1 HG03704.hp1 others(2): Show |
a0001a0013a0031others(2): Show | a0001c0001a0013c0014a0031c0027others(2): Show | a0001c0001t0001a0013c0014t0001a0031c0027t0001others(2): Show | a0001c0001t0001g0158a0013c0014t0001g0081a0031c0027t0001g0142others(2): Show | 5 | 240 | 0.0208 | -18 | c.846 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH14_chr1_224924675_225404286 | 225290645 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0037 | a0037c0121 | a0037c0121t0001 | a0037c0121t0001g0091 | 1 | 240 | 0.0042 | -18 | c.846 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH14_chr1_224924675_225404286 | 225335344 | TGTGTATA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(19): Show |
a0000a0005a0023others(9): Show | a0000c0102a0005c0005a0005c0041others(11): Show | a0000c0102t0003a0005c0005t0001a0005c0041t0001others(11): Show | a0000c0102t0003g0177a0005c0005t0001g0116a0005c0005t0001g0133others(19): Show | 22 | 240 | 0.0917 | -18 | c.100 others(39): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
a0003a0011a0095others(2): Show | a0003c0006a0011c0007a0095c0088others(2): Show | a0003c0006t0001a0011c0007t0002a0095c0088t0002others(2): Show | a0003c0006t0001g0148a0003c0006t0001g0149a0011c0007t0002g0045others(4): Show | 7 | 252 | 0.0278 | -18 | c.775 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | ||||||
| DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp2 HG02723.hp1 |
a0001a0059 | a0001c0032a0059c0126 | a0001c0032t0001a0001c0032t0006a0059c0126t0003 | a0001c0032t0001g0248a0001c0032t0006g0192a0059c0126t0003g0303 | 3 | 316 | 0.0095 | -18 | c.190 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | ||||||
| DNAH3_chr16_20928111_21155846 | 20957808 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03225.hp1 NA19010.hp2 |
a0001a0033 | a0001c0001a0033c0077 | a0001c0001t0001a0033c0077t0001 | a0001c0001t0001g0203a0033c0077t0001g0230 | 2 | 234 | 0.0086 | -18 | c.106 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar |