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 | 32553451 | TTATTGGG | T | intron_variant | MODIFIER | HG00621.hp1 HG02257.hp2 HG02258.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0020others(7): Show | a0001c0001t0001a0001c0002t0001a0002c0020t0012others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0002t0001g0068 others(9): Show |
12 | 126 | 0.0952 | -7 | c.199 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32585699 | CAAAAAAA | C | intron_variant | MODIFIER | HG02293.hp2 HG02717.hp1 HG02723.hp1 others(6): Show |
a0002a0003a0005others(5): Show | a0002c0009a0003c0008a0003c0010others(6): Show | a0002c0009t0001a0003c0008t0003a0003c0010t0007others(6): Show | a0002c0009t0001g0077 a0003c0008t0003g0116 a0003c0010t0007g0010 others(6): Show |
9 | 10 | 0.9000 | -7 | c.160 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32778867 | GTCATGTA | G | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02572.hp1 others(7): Show |
a0002a0003a0014others(5): Show | a0002c0020a0003c0008a0003c0010others(6): Show | a0002c0020t0012a0002c0020t0019a0003c0008t0003others(7): Show | a0002c0020t0012g0121 a0002c0020t0019g0006 a0003c0008t0003g0116 others(7): Show |
10 | 126 | 0.0794 | -7 | c.649 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32980368 | CAAAAAAA | C | intron_variant | MODIFIER | HG01256.hp1 HG02965.hp1 HG03195.hp2 others(3): Show |
a0002a0003a0014 | a0002c0009a0002c0020a0002c0051others(3): Show | a0002c0009t0007a0002c0020t0012a0002c0051t0003others(3): Show | a0002c0009t0007g0018 a0002c0020t0012g0121 a0002c0051t0003g0091 others(3): Show |
6 | 30 | 0.2000 | -7 | c.93+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33026313 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01256.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0009a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0002g0019 others(11): Show |
14 | 33 | 0.4242 | -7 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33190859 | AATATTAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(81): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0021others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(81): Show |
84 | 120 | 0.7000 | -7 | c.31+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 956571 | AAAAAAAC | A | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01109.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0007t0004others(3): Show | a0001c0001t0001g0162 a0001c0001t0001g0179 a0001c0001t0001g0243 others(9): Show |
12 | 302 | 0.0397 | -7 | c.968 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41854287 | CAGATAAT | C | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02922.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
3 | 400 | 0.0075 | -7 | c.*25 others(18): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1955 | chr19 | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22065827 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(172): Show |
246 | 258 | 0.9535 | -7 | c.-17 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22071087 | TTTATTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(218): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(155): Show |
221 | 322 | 0.6863 | -7 | c.604 others(22): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51552263 | AGGAGAAC | A | intron_variant | MODIFIER | HG01255.hp2 HG04204.hp1 NA18939.hp1 others(22): Show |
a0002a0015 | a0002c0004a0015c0024 | a0002c0004t0001a0002c0004t0008a0015c0024t0001 | a0002c0004t0001g0009 a0002c0004t0001g0291 a0002c0004t0001g0292 others(21): Show |
25 | 344 | 0.0727 | -7 | c.568 others(24): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 6/43 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68437662 | CAAAAACA | C | intron_variant | MODIFIER | HG00639.hp2 HG03130.hp1 HG03209.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0022 | a0001c0001t0010a0001c0002t0001a0001c0002t0009others(2): Show | a0001c0001t0010g0199 a0001c0002t0001g0140 a0001c0002t0001g0141 others(3): Show |
6 | 324 | 0.0185 | -7 | c.141 others(24): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68461828 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(76): Show |
a0001a0009 | a0001c0002a0001c0007a0001c0010others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(9): Show | a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 others(76): Show |
79 | 233 | 0.3391 | -7 | c.588 others(24): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0053 | a0001c0001t0008g0020 a0001c0001t0008g0036 a0001c0001t0008g0084 others(3): Show |
9 | 109 | 0.0826 | -7 | c.*42 others(18): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55428484 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(49): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0002c0002t0001a0007c0008t0001 | a0001c0001t0001g0007 a0001c0001t0001g0064 a0001c0001t0001g0114 others(49): Show |
52 | 186 | 0.2796 | -7 | c.*21 others(18): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 1823 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55447779 | AGAGAGGG | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 others(14): Show |
17 | 335 | 0.0507 | -7 | c.783 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02451.hp2 others(9): Show |
a0004a0005 | a0004c0005a0005c0004 | a0004c0005t0005a0005c0004t0003 | a0004c0005t0005g0287 a0005c0004t0003g0322 a0005c0004t0003g0323 others(9): Show |
12 | 46 | 0.2609 | -7 | c.405 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204752 | AAATAAAT | A | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0107 others(4): Show |
9 | 294 | 0.0306 | -7 | c.-19 others(18): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1858 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204776 | AAATAAAT | A | upstream_gene_variant | MODIFIER | HG02080.hp1 HG03486.hp2 HG03540.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0002g0003 a0001c0001t0002g0008 others(8): Show |
13 | 294 | 0.0442 | -7 | c.-19 others(18): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1834 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204784 | TTTAAATA | T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0107 others(4): Show |
9 | 294 | 0.0306 | -7 | c.-19 others(18): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1826 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204808 | TTTAAATA | T | upstream_gene_variant | MODIFIER | HG02080.hp1 HG03486.hp2 HG03540.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0002g0003 a0001c0001t0002g0008 others(8): Show |
13 | 294 | 0.0442 | -7 | c.-18 others(18): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1802 | chrX | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3317360 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(59): Show |
a0001a0007a0009others(1): Show | a0001c0003a0007c0019a0009c0023others(1): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0012others(5): Show | a0001c0003t0004g0008 a0001c0003t0004g0012 a0001c0003t0004g0014 others(58): Show |
62 | 162 | 0.3827 | -7 | c.146 others(24): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 17/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3370081 | CTGGAAGG | C | intron_variant | MODIFIER | HG00735.hp2 HG02818.hp2 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0008 a0001c0003t0004g0055 a0001c0003t0004g0056 |
3 | 360 | 0.0083 | -7 | c.612 others(24): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 6/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3389320 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG02080.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0003a0001c0020 | a0001c0003t0006a0001c0020t0024 | a0001c0003t0006g0009 a0001c0003t0006g0010 a0001c0003t0006g0347 others(4): Show |
7 | 358 | 0.0196 | -7 | c.84- others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123915209 | GCCTCTCC | G | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01169.hp2 others(33): Show |
a0001a0004a0005others(14): Show | a0001c0001a0001c0003a0004c0006others(17): Show | a0001c0001t0001a0001c0003t0002a0004c0006t0001others(17): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0003t0002g0050 others(33): Show |
36 | 168 | 0.2143 | -7 | c.107 others(26): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 62/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21726860 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(104): Show |
a0001a0002a0003others(84): Show | a0001c0091a0001c0141a0002c0001others(96): Show | a0001c0091t0002a0001c0141t0002a0002c0001t0004others(96): Show | a0001c0091t0002g0015 a0001c0141t0002g0026 a0002c0001t0004g0253 others(104): Show |
107 | 142 | 0.7535 | -7 | c.744 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02280.hp2 others(9): Show |
a0011a0031a0065others(9): Show | a0011c0016a0031c0229a0065c0136others(9): Show | a0011c0016t0003a0031c0229t0005a0065c0136t0001others(9): Show | a0011c0016t0003g0171 a0031c0229t0005g0207 a0065c0136t0001g0239 others(9): Show |
12 | 22 | 0.5455 | -7 | c.744 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21822957 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(112): Show |
a0001a0003a0004others(91): Show | a0001c0090a0001c0107a0001c0141others(106): Show | a0001c0090t0002a0001c0107t0002a0001c0141t0002others(107): Show | a0001c0090t0002g0027 a0001c0107t0002g0067 a0001c0141t0002g0026 others(112): Show |
115 | 135 | 0.8519 | -7 | c.106 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 65/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21901757 | CTCCAGTG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(198): Show |
a0001a0002a0003others(152): Show | a0001c0090a0001c0091a0001c0107others(184): Show | a0001c0090t0002a0001c0091t0002a0001c0107t0002others(187): Show | a0001c0090t0002g0027 a0001c0091t0002g0015 a0001c0107t0002g0067 others(198): Show |
201 | 296 | 0.6791 | -7 | c.*51 others(16): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 82/82 | 513 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57301265 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01361.hp2 others(33): Show |
a0001a0002a0005others(10): Show | a0001c0001a0002c0002a0005c0005others(10): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(11): Show | a0001c0001t0001g0145 a0001c0001t0001g0171 a0001c0001t0001g0172 others(33): Show |
36 | 44 | 0.8182 | -7 | c.113 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302560 | TATATGTA | T | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG02145.hp2 others(4): Show |
a0004a0007a0014others(2): Show | a0004c0004a0007c0007a0014c0011others(2): Show | a0004c0004t0001a0007c0007t0001a0014c0011t0001others(2): Show | a0004c0004t0001g0261 a0007c0007t0001g0167 a0014c0011t0001g0065 others(4): Show |
7 | 264 | 0.0265 | -7 | c.111 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57393625 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00621.hp2 others(89): Show |
a0001a0002a0004others(23): Show | a0001c0026a0002c0002a0002c0023others(27): Show | a0001c0026t0001a0002c0002t0001a0002c0023t0001others(27): Show | a0001c0026t0001g0204 a0002c0002t0001g0006 a0002c0002t0001g0117 others(89): Show |
92 | 158 | 0.5823 | -7 | c.711 others(24): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 44/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57408746 | CTGGAATG | C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG00741.hp1 others(15): Show |
a0004a0007a0010others(2): Show | a0004c0004a0007c0007a0010c0015others(2): Show | a0004c0004t0001a0007c0007t0001a0010c0015t0001others(2): Show | a0004c0004t0001g0040 a0004c0004t0001g0067 a0004c0004t0001g0069 others(15): Show |
18 | 264 | 0.0682 | -7 | c.602 others(24): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 39/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57411549 | AAAAAAAG | A | intron_variant | MODIFIER | HG01169.hp2 HG01258.hp1 HG02622.hp2 others(4): Show |
a0003a0008a0009others(1): Show | a0003c0003a0008c0016a0009c0014others(1): Show | a0003c0003t0001a0008c0016t0001a0009c0014t0001others(1): Show | a0003c0003t0001g0021 a0008c0016t0001g0041 a0009c0014t0001g0187 others(4): Show |
7 | 264 | 0.0265 | -7 | c.602 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 39/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225011758 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(43): Show |
a0003a0005a0012others(15): Show | a0003c0003a0003c0026a0003c0072others(18): Show | a0003c0003t0001a0003c0026t0001a0003c0072t0001others(18): Show | a0003c0003t0001g0037 a0003c0003t0001g0050 a0003c0003t0001g0054 others(43): Show |
46 | 48 | 0.9583 | -7 | c.110 others(26): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 10/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225044965 | TAATGTAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(134): Show |
a0001a0002a0004others(51): Show | a0001c0001a0001c0008a0002c0002others(59): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(59): Show | a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 others(134): Show |
137 | 238 | 0.5756 | -7 | c.191 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225066221 | GCTTATAA | G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 |
a0010a0048 | a0010c0010a0048c0090 | a0010c0010t0001a0048c0090t0001 | a0010c0010t0001g0033 a0048c0090t0001g0029 |
2 | 238 | 0.0084 | -7 | c.242 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | chr1 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225132384 | ATGTGTGT | A | intron_variant | MODIFIER | HG02027.hp1 HG03491.hp1 HG03492.hp2 others(4): Show |
a0034a0050a0082others(3): Show | a0034c0035a0050c0121a0082c0117others(3): Show | a0034c0035t0001a0050c0121t0001a0082c0117t0001others(3): Show | a0034c0035t0001g0089 a0034c0035t0001g0090 a0050c0121t0001g0094 others(4): Show |
7 | 238 | 0.0294 | -7 | c.425 others(26): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 27/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225339141 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(39): Show |
a0002a0005a0013others(17): Show | a0002c0002a0005c0004a0013c0016others(17): Show | a0002c0002t0001a0005c0004t0001a0013c0016t0001others(17): Show | a0002c0002t0001g0106 a0002c0002t0001g0110 a0002c0002t0001g0112 others(39): Show |
42 | 113 | 0.3717 | -7 | c.104 others(26): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 68/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78421898 | AGCGGGCG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(38): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0008a0001c0020others(37): Show | a0001c0001t0001a0001c0008t0001a0001c0020t0001others(37): Show | a0001c0001t0001g0058 a0001c0001t0001g0159 a0001c0008t0001g0225 others(38): Show |
41 | 247 | 0.1660 | -7 | c.*20 others(18): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 1798 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78425756 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG02055.hp1 others(13): Show |
a0002a0003a0005others(11): Show | a0002c0050a0003c0175a0003c0199others(12): Show | a0002c0050t0002a0003c0175t0002a0003c0199t0002others(12): Show | a0002c0050t0002g0004 a0003c0175t0002g0051 a0003c0199t0002g0141 others(13): Show |
16 | 21 | 0.7619 | -7 | c.129 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78428923 | TTAAAAAA | T | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02559.hp2 others(8): Show |
a0002a0003a0005others(7): Show | a0002c0050a0003c0199a0005c0226others(7): Show | a0002c0050t0002a0003c0199t0002a0005c0226t0002others(7): Show | a0002c0050t0002g0004 a0003c0199t0002g0141 a0005c0226t0002g0079 others(8): Show |
11 | 227 | 0.0485 | -7 | c.124 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 76/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78482070 | CTTTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02572.hp1 others(14): Show |
a0001a0003a0004others(11): Show | a0001c0113a0003c0081a0004c0006others(12): Show | a0001c0113t0001a0003c0081t0001a0004c0006t0001others(12): Show | a0001c0113t0001g0098 a0003c0081t0001g0024 a0004c0006t0001g0148 others(14): Show |
17 | 72 | 0.2361 | -7 | c.765 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 48/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78503169 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01106.hp2 others(35): Show |
a0004a0010a0016others(26): Show | a0004c0006a0004c0014a0004c0044others(33): Show | a0004c0006t0001a0004c0014t0001a0004c0044t0001others(33): Show | a0004c0006t0001g0148 a0004c0006t0001g0149 a0004c0014t0001g0014 others(35): Show |
38 | 44 | 0.8636 | -7 | c.495 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 31/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78506135 | AGTTAATT | A | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG02895.hp1 others(1): Show |
a0003a0013a0092 | a0003c0103a0013c0005a0092c0159 | a0003c0103t0001a0013c0005t0001a0092c0159t0001 | a0003c0103t0001g0111 a0013c0005t0001g0082 a0013c0005t0001g0083 others(1): Show |
4 | 250 | 0.0160 | -7 | c.480 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 30/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78512940 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp1 others(11): Show |
a0007a0017a0037others(6): Show | a0007c0010a0007c0051a0007c0052others(10): Show | a0007c0010t0001a0007c0051t0001a0007c0052t0001others(10): Show | a0007c0010t0001g0201 a0007c0010t0001g0219 a0007c0051t0001g0182 others(11): Show |
14 | 101 | 0.1386 | -7 | c.411 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 26/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78538138 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(53): Show |
a0001a0002a0003others(31): Show | a0001c0105a0001c0138a0002c0003others(48): Show | a0001c0105t0001a0001c0138t0001a0002c0003t0001others(48): Show | a0001c0105t0001g0056 a0001c0138t0001g0226 a0002c0003t0001g0047 others(53): Show |
56 | 83 | 0.6747 | -7 | c.267 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 18/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78553313 | TTTTTTTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG02071.hp1 others(6): Show |
a0001a0025a0072others(2): Show | a0001c0001a0001c0008a0001c0129others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0129t0001others(6): Show | a0001c0001t0001g0159 a0001c0008t0001g0225 a0001c0129t0001g0162 others(6): Show |
9 | 250 | 0.0360 | -7 | c.217 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78554436 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp2 others(31): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0020a0001c0105others(30): Show | a0001c0001t0001a0001c0020t0001a0001c0105t0001others(30): Show | a0001c0001t0001g0236 a0001c0020t0001g0080 a0001c0105t0001g0056 others(31): Show |
34 | 36 | 0.9444 | -7 | c.217 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA | C | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001a0002a0014others(3): Show | a0001c0005a0001c0049a0002c0052others(4): Show | a0001c0005t0002a0001c0049t0002a0002c0052t0001others(4): Show | a0001c0005t0002g0055 a0001c0049t0002g0010 a0002c0052t0001g0217 others(5): Show |
8 | 110 | 0.0727 | -7 | c.190 others(26): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar |