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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLG4_chr17_7182187_7222627 | 7184629 | G | GTGTGTAT others(35): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 NA18951.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0075a0001c0001t0193 | a0001c0001t0027g0041a0001c0001t0075g0016a0001c0001t0193g0277 | 3 | 376 | 0.0080 | 42 | c.*60 others(53): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77916904 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19082.hp2 |
a0001a0002 | a0001c0002a0002c0014 | a0001c0002t0002a0002c0014t0004 | a0001c0002t0002g0120a0002c0014t0004g0142 | 2 | 331 | 0.0060 | 42 | c.304 others(59): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3600747 | G | GAGATATA others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0042a0001c0002t0030 | a0001c0001t0042g0080a0001c0002t0030g0014 | 2 | 80 | 0.0250 | 42 | c.159 others(63): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3600829 | T | TATATAGA others(35): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03209.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0038a0001c0001t0039others(2): Show | a0001c0001t0004g0016a0001c0001t0038g0075a0001c0001t0039g0056others(2): Show | 5 | 80 | 0.0625 | 42 | c.159 others(63): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1384364 | A | ACAGTTAC others(35): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03492.hp1 |
a0001a0002 | a0001c0012a0002c0001 | a0001c0012t0004a0002c0001t0007 | a0001c0012t0004g0036a0002c0001t0007g0038 | 2 | 40 | 0.0500 | 42 | c.107 others(63): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1384387 | G | GCCCCTGA others(35): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01891.hp1 HG02074.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0010others(4): Show | a0001c0002t0002g0021a0001c0002t0009g0039a0001c0002t0010g0008others(4): Show | 7 | 40 | 0.1750 | 42 | c.107 others(63): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1430011 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | 42 | c.107 others(61): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1571334 | A | AGGGTGAA others(35): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0010 | a0001c0010t0025 | a0001c0010t0025g0012 | 1 | 40 | 0.0250 | 42 | c.144 others(61): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1604598 | G | GTGATCCA others(35): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0006 | 1 | 40 | 0.0250 | 42 | c.144 others(63): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1604598 | G | GTGATCCA others(35): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0010others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(20): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(23): Show | 26 | 40 | 0.6500 | 42 | c.144 others(63): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1691949 | G | GGAGGCGG others(35): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02976.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0015a0001c0003t0001g0027 | 2 | 40 | 0.0500 | 42 | c.279 others(59): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02132.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0019a0001c0001t0001g0055a0001c0001t0001g0084others(9): Show | 12 | 266 | 0.0451 | 42 | c.-51 others(57): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTTTATAT others(35): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0119 | 2 | 266 | 0.0075 | 42 | c.-51 others(57): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
DLL1_chr6_170277206_170296078 | 170282947 | C | CCCATGAC others(35): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0095 | 1 | 413 | 0.0024 | 42 | c.216 others(57): Show |
DLL1 | ENSG00000198719.9 | transcript | ENST00000366756.4 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31293163 | G | GGTGTGTG others(35): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp1 HG03486.hp1 others(1): Show |
a0002a0005a0010others(1): Show | a0002c0012a0005c0053a0010c0051others(1): Show | a0002c0012t0002a0005c0053t0004a0010c0051t0011others(1): Show | a0002c0012t0002g0098a0005c0053t0004g0103a0010c0051t0011g0121others(1): Show | 4 | 126 | 0.0318 | 42 | c.922 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31394938 | T | TGAGAGAG others(35): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0114 | 1 | 126 | 0.0079 | 42 | c.908 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31421958 | T | TATACACA others(35): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 126 | 0.0079 | 42 | c.908 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31425695 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0012 | a0003c0008t0012g0117 | 1 | 126 | 0.0079 | 42 | c.908 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0060 | 1 | 126 | 0.0079 | 42 | c.821 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0006 | a0006c0006 | a0006c0006t0008 | a0006c0006t0008g0031 | 1 | 126 | 0.0079 | 42 | c.821 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31910204 | T | TTGAAAAG others(35): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 126 | 0.0079 | 42 | c.691 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 47/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32252677 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | 42 | c.629 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012 | 1 | 126 | 0.0079 | 42 | c.280 others(61): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32969027 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0106 | 1 | 126 | 0.0079 | 42 | c.93+ others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33008803 | C | CACATATA others(35): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0008 | a0008c0010 | a0008c0010t0009 | a0008c0010t0009g0004 | 1 | 126 | 0.0079 | 42 | c.93+ others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMRTB1_chr1_53454399_53472488 | 53458073 | C | CAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 394 | 0.0025 | 42 | c.-13 others(53): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132674130 | G | GAGGAGGA others(35): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0015 | 1 | 276 | 0.0036 | 42 | c.10+ others(57): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 398 | 0.0025 | 42 | c.-18 others(53): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55447787 | G | GAGAGGGG others(35): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(122): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(122): Show | 125 | 338 | 0.3698 | 42 | c.783 others(59): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55447787 | G | GAGAGGGG others(35): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 338 | 0.0030 | 42 | c.783 others(59): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55447846 | A | AGGGCAGA others(35): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG02257.hp1 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0008a0006c0006t0001g0052a0006c0006t0001g0053others(5): Show | 8 | 338 | 0.0237 | 42 | c.783 others(59): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55447855 | G | GGGAGAGG others(35): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 338 | 0.0030 | 42 | c.783 others(59): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3309592 | A | AATAACTT others(35): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0194 | 1 | 362 | 0.0028 | 42 | c.167 others(61): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0025 | a0025c0079 | a0025c0079t0001 | a0025c0079t0001g0080 | 1 | 170 | 0.0059 | 42 | c.142 others(59): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp2 |
a0031a0032 | a0031c0040a0032c0039 | a0031c0040t0001a0032c0039t0001 | a0031c0040t0001g0017a0032c0039t0001g0018 | 2 | 170 | 0.0118 | 42 | c.142 others(59): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02809.hp2 HG04204.hp1 |
a0001a0026 | a0001c0002a0026c0077 | a0001c0002t0002a0026c0077t0002 | a0001c0002t0002g0088a0026c0077t0002g0163 | 2 | 170 | 0.0118 | 42 | c.142 others(59): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01175.hp2 others(10): Show |
a0001a0005a0034others(2): Show | a0001c0001a0001c0066a0001c0067others(6): Show | a0001c0001t0001a0001c0066t0001a0001c0067t0001others(6): Show | a0001c0001t0001g0020a0001c0066t0001g0132a0001c0067t0001g0082others(10): Show | 13 | 170 | 0.0765 | 42 | c.142 others(59): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123851290 | G | GTCTTCCA others(35): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 |
a0033a0067 | a0033c0063a0067c0078 | a0033c0063t0001a0067c0078t0001 | a0033c0063t0001g0170a0067c0078t0001g0165 | 2 | 170 | 0.0118 | 42 | c.629 others(59): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 35/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123851332 | C | CTCTTCCA others(35): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0052 | a0052c0037 | a0052c0037t0001 | a0052c0037t0001g0130 | 1 | 170 | 0.0059 | 42 | c.629 others(59): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 35/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123851390 | A | ACCTAGGA others(35): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0070 | a0070c0086 | a0070c0086t0002 | a0070c0086t0002g0156 | 1 | 170 | 0.0059 | 42 | c.629 others(59): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 35/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(35): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0244 | 1 | 266 | 0.0038 | 42 | c.730 others(61): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG01928.hp2 NA18981.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122a0002c0002t0001g0124 | 2 | 266 | 0.0075 | 42 | c.730 others(61): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0023 | a0023c0079 | a0023c0079t0001 | a0023c0079t0001g0160 | 1 | 266 | 0.0038 | 42 | c.730 others(61): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389839 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0210 | 1 | 266 | 0.0038 | 42 | c.730 others(61): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0073 | 1 | 266 | 0.0038 | 42 | c.133 others(61): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0017 | a0017c0069 | a0017c0069t0001 | a0017c0069t0001g0264 | 1 | 266 | 0.0038 | 42 | c.133 others(61): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0038 | 1 | 266 | 0.0038 | 42 | c.133 others(61): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0136 | 1 | 316 | 0.0032 | 42 | c.229 others(59): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0008 | a0008c0021 | a0008c0021t0001 | a0008c0021t0001g0043 | 1 | 234 | 0.0043 | 42 | c.563 others(59): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGAG others(35): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0077 | 1 | 234 | 0.0043 | 42 | c.324 others(59): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar |