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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 NA18940.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0008a0005c0007 | a0001c0001t0002a0003c0008t0015a0005c0007t0001others(1): Show | a0001c0001t0002g0024 a0003c0008t0015g0123 a0005c0007t0001g0120 others(1): Show |
4 | 126 | 0.0318 | 24 | c.649 others(43): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32815520 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0053 | a0005c0053t0004 | a0005c0053t0004g0103 | 1 | 126 | 0.0079 | 24 | c.530 others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32939822 | A | AGACCTAG others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG02257.hp1 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0016a0004c0011others(4): Show | a0001c0001t0001a0001c0001t0004a0002c0016t0009others(5): Show | a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0004g0101 others(6): Show |
9 | 126 | 0.0714 | 24 | c.93+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32948113 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0013 | a0013c0060 | a0013c0060t0003 | a0013c0060t0003g0072 | 1 | 126 | 0.0079 | 24 | c.93+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009391 | T | TATGTGTG others(17): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 126 | 0.0079 | 24 | c.93+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009664 | A | ACGTATAT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0064 | 1 | 126 | 0.0079 | 24 | c.93+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009929 | C | CATGTGTG others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0027 | a0027c0046 | a0027c0046t0029 | a0027c0046t0029g0126 | 1 | 126 | 0.0079 | 24 | c.93+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009966 | A | ATATGTGT others(17): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0028 | a0028c0030 | a0028c0030t0003 | a0028c0030t0003g0029 | 1 | 126 | 0.0079 | 24 | c.93+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33163624 | C | CTATCTAT others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02071.hp1 HG02293.hp1 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0054a0002c0009others(11): Show | a0001c0002t0001a0001c0002t0013a0001c0054t0001others(13): Show | a0001c0002t0001g0104 a0001c0002t0013g0097 a0001c0054t0001g0100 others(13): Show |
16 | 126 | 0.1270 | 24 | c.31+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMKN_chr19_35492220_35518649 | 35511468 | A | ACCACTGC others(17): Show |
disruptive_inframe_insertion | MODERATE | HG02056.hp2 HG03654.hp1 HG04204.hp2 others(2): Show |
a0016 | a0016c0017 | a0016c0017t0001 | a0016c0017t0001g0213 a0016c0017t0001g0220 a0016c0017t0001g0221 others(2): Show |
5 | 442 | 0.0113 | 24 | c.860 others(31): Show |
p.Gly others(37): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1034/1924 | 860/1431 | 287/476 | chr19 | TogoVar | |||
DMKN_chr19_35492220_35518649 | 35511491 | C | CGCCACTG others(17): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp1 | a0031 | a0031c0036 | a0031c0036t0001 | a0031c0036t0001g0155 | 1 | 442 | 0.0023 | 24 | c.814 others(31): Show |
p.Gly others(37): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1011/1924 | 837/1431 | 279/476 | chr19 | TogoVar | |||
DMP1_chr4_87645280_87669357 | 87653407 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0072 | 1 | 430 | 0.0023 | 24 | c.-22 others(41): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45770204 | C | CCAGCAGC others(17): Show |
3_prime_UTR_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0057 | 1 | 416 | 0.0024 | 24 | c.*26 others(33): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 283 | chr19 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 840722 | G | GGTGTGTG others(17): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG02300.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0011 | a0002c0002t0003g0043 a0002c0002t0011g0053 |
2 | 306 | 0.0065 | 24 | c.-11 others(35): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | |||||||
DMRTB1_chr1_53454399_53472488 | 53458073 | C | CAGAGAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 394 | 0.0025 | 24 | c.-13 others(35): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | |||||||
DMRTC1B_chrX_72771890_72853803 | 72776950 | T | TTCCTCCT others(17): Show |
5_prime_UTR_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 | 1 | 26 | 0.0385 | 24 | c.-36 others(33): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | 68133 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMRTC1_chrX_72867025_72948837 | 72943793 | G | GAGGAGGA others(17): Show |
5_prime_UTR_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0002 | 1 | 54 | 0.0185 | 24 | c.-31 others(33): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | 68100 | chrX | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(17): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 324 | 0.0062 | 24 | c.836 others(39): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0151 others(3): Show |
6 | 324 | 0.0185 | 24 | c.836 others(39): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173774 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG02970.hp2 |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0001c0001t0002a0009c0012t0001 | a0001c0001t0001g0140 a0001c0001t0002g0044 a0009c0012t0001g0041 |
3 | 238 | 0.0126 | 24 | c.668 others(43): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG02055.hp1 others(7): Show |
a0001a0002a0018others(1): Show | a0001c0001a0001c0002a0001c0045others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0022others(5): Show | a0001c0001t0001g0124 a0001c0001t0001g0160 a0001c0001t0001g0195 others(7): Show |
10 | 238 | 0.0420 | 24 | c.668 others(43): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 NA18522.hp1 |
a0001a0005 | a0001c0002a0005c0014 | a0001c0002t0014a0005c0014t0005 | a0001c0002t0014g0133 a0005c0014t0005g0033 a0005c0014t0005g0034 |
3 | 238 | 0.0126 | 24 | c.668 others(43): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0013 | 1 | 238 | 0.0042 | 24 | c.668 others(43): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119202864 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0045 | a0001c0045t0010 | a0001c0045t0010g0075 | 1 | 238 | 0.0042 | 24 | c.774 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119202891 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0007 | 1 | 238 | 0.0042 | 24 | c.774 others(41): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51502306 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03098.hp1 |
a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0050 a0002c0011t0002g0051 |
2 | 346 | 0.0058 | 24 | c.299 others(41): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 17/43 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68427650 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18906.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0003 | a0001c0002t0004g0015 a0001c0003t0003g0074 |
2 | 326 | 0.0061 | 24 | c.220 others(43): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 14/20 | chr10 | TogoVar | |||||||
DNAAF11_chr8_132565416_132680545 | 132573127 | T | TAGATATA others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02717.hp1 others(1): Show |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0010 a0002c0006t0001g0011 a0002c0006t0001g0012 others(1): Show |
4 | 276 | 0.0145 | 24 | c.122 others(41): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 11/11 | chr8 | TogoVar | |||||||
DNAAF11_chr8_132565416_132680545 | 132674084 | G | GGAGGAGG others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG02809.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0011 a0002c0006t0001g0012 a0002c0006t0001g0013 |
3 | 276 | 0.0109 | 24 | c.10+ others(39): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84148594 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0035 | 1 | 456 | 0.0022 | 24 | c.125 others(39): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 |
a0017a0026 | a0017c0030a0026c0034 | a0017c0030t0002a0026c0034t0001 | a0017c0030t0002g0169 a0026c0034t0001g0168 |
2 | 456 | 0.0044 | 24 | c.125 others(39): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01071.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0003 | a0001c0001t0002a0001c0001t0005a0003c0007t0001others(1): Show | a0001c0001t0002g0198 a0001c0001t0005g0012 a0003c0007t0001g0387 others(1): Show |
5 | 456 | 0.0110 | 24 | c.125 others(39): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTTTTT others(17): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03130.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0206 a0002c0002t0001g0205 |
2 | 456 | 0.0044 | 24 | c.125 others(39): 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(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(71): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0334 a0001c0001t0002g0288 a0001c0001t0002g0290 others(69): Show |
74 | 456 | 0.1623 | 24 | c.125 others(39): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84168827 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 456 | 0.0022 | 24 | c.103 others(43): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF2_chr14_49620174_49640244 | 49630669 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0070 | 1 | 352 | 0.0028 | 24 | c.186 others(43): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168376 | C | CATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 398 | 0.0025 | 24 | c.-18 others(35): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1764 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0029 | 1 | 398 | 0.0025 | 24 | c.-18 others(35): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55169933 | G | GTATTTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02004.hp1 HG02071.hp1 others(4): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0008 others(1): Show |
7 | 398 | 0.0176 | 24 | c.-34 others(35): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3321 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00738.hp1 others(16): Show |
a0003a0007 | a0003c0002a0007c0016 | a0003c0002t0001a0007c0016t0001 | a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 others(4): Show |
19 | 398 | 0.0477 | 24 | c.-43 others(35): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55487371 | C | CACCAATC others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 338 | 0.0030 | 24 | c.405 others(41): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 761997 | T | TTGAGCCC others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0025others(29): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(42): Show | a0001c0001t0003g0320 a0001c0001t0004g0021 a0001c0001t0004g0022 others(259): Show |
285 | 378 | 0.7540 | 24 | c.161 others(41): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 HG02080.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0012 | a0001c0001t0001g0253 a0001c0001t0001g0306 a0001c0001t0003g0307 others(1): Show |
4 | 362 | 0.0111 | 24 | c.167 others(43): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21612554 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG03209.hp2 |
a0022a0152 | a0022c0015a0152c0169 | a0022c0015t0015a0152c0169t0001 | a0022c0015t0015g0082 a0022c0015t0015g0083 a0152c0169t0001g0117 |
3 | 298 | 0.0101 | 24 | c.385 others(43): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 20/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0220 | a0220c0177 | a0220c0177t0002 | a0220c0177t0002g0126 | 1 | 298 | 0.0034 | 24 | c.100 others(43): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0117 | a0117c0196 | a0117c0196t0023 | a0117c0196t0023g0169 | 1 | 298 | 0.0034 | 24 | c.100 others(43): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG02109.hp1 others(5): Show |
a0020a0031a0034others(5): Show | a0020c0268a0031c0238a0034c0142others(5): Show | a0020c0268t0005a0031c0238t0005a0034c0142t0004others(5): Show | a0020c0268t0005g0186 a0031c0238t0005g0201 a0034c0142t0004g0057 others(5): Show |
8 | 298 | 0.0269 | 24 | c.100 others(43): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01255.hp2 others(4): Show |
a0006a0008a0023others(3): Show | a0006c0263a0008c0111a0023c0264others(3): Show | a0006c0263t0001a0008c0111t0006a0023c0264t0002others(3): Show | a0006c0263t0001g0139 a0008c0111t0006g0094 a0023c0264t0002g0140 others(4): Show |
7 | 298 | 0.0235 | 24 | c.100 others(43): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19057.hp2 |
a0040a0216 | a0040c0148a0216c0276 | a0040c0148t0003a0216c0276t0002 | a0040c0148t0003g0052 a0216c0276t0002g0183 |
2 | 298 | 0.0067 | 24 | c.100 others(43): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21900386 | A | AGACTGAA others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0113 | a0113c0057 | a0113c0057t0022 | a0113c0057t0022g0002 | 1 | 298 | 0.0034 | 24 | c.133 others(43): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 81/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |