| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DLGAP1_chr18_3491032_4460307 | 4120722 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03471.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0011a0001c0004t0015 | a0001c0001t0001g0018a0001c0003t0011g0010a0001c0004t0015g0062 | 3 | 80 | 0.0375 | 48 | c.-15 others(69): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4265663 | C | CCCTCCCT others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0073 | 1 | 80 | 0.0125 | 48 | c.-26 others(71): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4265663 | C | CCCTTCCT others(41): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 80 | 0.0125 | 48 | c.-26 others(71): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 4265698 | T | TTCCTTCC others(41): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0043 | 1 | 80 | 0.0125 | 48 | c.-26 others(71): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1227151 | G | GAGATATA others(41): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | 48 | c.74- others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1227153 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | 48 | c.74- others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1246902 | C | CAAGACCT others(41): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp1 others(20): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(6): Show | a0001c0002t0001a0001c0002t0009a0001c0002t0022others(18): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0009g0039others(20): Show | 23 | 40 | 0.5750 | 48 | c.74- others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1248008 | G | GAGTGATG others(41): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | 48 | c.74- others(65): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1450088 | G | GCTGTGAG others(41): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01496.hp1 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0010a0001c0002t0023a0001c0003t0024others(5): Show | a0001c0002t0010g0008a0001c0002t0023g0005a0001c0003t0024g0003others(5): Show | 8 | 40 | 0.2000 | 48 | c.107 others(67): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1450088 | G | GCTGTGAG others(41): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | 48 | c.107 others(67): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0012t0001 | a0001c0001t0001g0092a0001c0001t0002g0184a0001c0012t0001g0057 | 3 | 266 | 0.0113 | 48 | c.-51 others(63): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122644061 | C | CTGCTGTC others(41): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(105): Show |
a0001a0002a0003others(36): Show | a0001c0004a0001c0064a0001c0073others(41): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(53): Show | a0001c0004t0001g0162a0001c0004t0001g0184a0001c0004t0001g0185others(97): Show | 108 | 282 | 0.3830 | 48 | c.*66 others(57): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 326 | chr10 | TogoVar | ||||||
| DMBX1_chr1_46484836_46521216 | 46501192 | C | CCCTTCCT others(41): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0083 | 1 | 430 | 0.0023 | 48 | c.-12 others(65): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 31284557 | T | TTTCTTCT others(41): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0012 | a0012c0048 | a0012c0048t0001 | a0012c0048t0001g0057 | 1 | 126 | 0.0079 | 48 | c.922 others(69): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 31293163 | G | GGTGTGTG others(41): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0091 | 1 | 126 | 0.0079 | 48 | c.922 others(69): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32252699 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 |
a0001a0027 | a0001c0001a0027c0058 | a0001c0001t0002a0027c0058t0019 | a0001c0001t0002g0024a0027c0058t0019g0116 | 2 | 126 | 0.0159 | 48 | c.629 others(69): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 33010062 | A | ATATACAC others(41): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03492.hp1 HG03654.hp1 |
a0001a0006a0014 | a0001c0054a0006c0006a0014c0017 | a0001c0054t0001a0006c0006t0008a0014c0017t0001 | a0001c0054t0001g0100a0006c0006t0008g0031a0014c0017t0001g0114 | 3 | 126 | 0.0238 | 48 | c.93+ others(65): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| DMP1_chr4_87645280_87669357 | 87653407 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0096 | 1 | 430 | 0.0023 | 48 | c.-21 others(65): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DMXL1_chr5_119066087_119254127 | 119202864 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0013 | 1 | 238 | 0.0042 | 48 | c.774 others(65): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DNAAF11_chr8_132565416_132680545 | 132674160 | A | AAGGAGGA others(41): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01243.hp2 HG02071.hp1 others(11): Show |
a0003a0007 | a0003c0003a0007c0010 | a0003c0003t0002a0003c0003t0011a0007c0010t0002 | a0003c0003t0002g0005a0003c0003t0002g0059a0003c0003t0002g0060others(10): Show | 14 | 276 | 0.0507 | 48 | c.10+ others(63): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| DNAAF4_chr15_55425308_55513234 | 55433995 | A | AATATTAT others(41): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 338 | 0.0030 | 48 | c.104 others(65): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
| DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02965.hp2 others(3): Show |
a0002a0011a0065others(1): Show | a0002c0004a0011c0028a0011c0084others(2): Show | a0002c0004t0002a0011c0028t0001a0011c0084t0002others(2): Show | a0002c0004t0002g0143a0011c0028t0001g0067a0011c0028t0001g0084others(3): Show | 6 | 170 | 0.0353 | 48 | c.142 others(65): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar | ||||||
| DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02717.hp1 others(6): Show |
a0007a0013a0023others(1): Show | a0007c0010a0007c0097a0013c0014others(2): Show | a0007c0010t0001a0007c0097t0001a0013c0014t0001others(2): Show | a0007c0010t0001g0125a0007c0010t0001g0127a0007c0010t0001g0128others(6): Show | 9 | 170 | 0.0529 | 48 | c.142 others(65): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar | ||||||
| DNAH10_chr12_123757301_123940714 | 123911761 | G | GCTGGGGG others(41): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01517.hp1 others(3): Show |
a0001a0004a0019 | a0001c0003a0004c0006a0019c0013 | a0001c0003t0002a0004c0006t0001a0019c0013t0001 | a0001c0003t0002g0105a0004c0006t0001g0061a0004c0006t0001g0087others(3): Show | 6 | 170 | 0.0353 | 48 | c.101 others(69): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(41): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 |
a0097a0109 | a0097c0069a0109c0171 | a0097c0069t0004a0109c0171t0001 | a0097c0069t0004g0249a0109c0171t0001g0293 | 2 | 298 | 0.0067 | 48 | c.100 others(67): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
| DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(41): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0131 | a0131c0072 | a0131c0072t0002 | a0131c0072t0002g0287 | 1 | 298 | 0.0034 | 48 | c.100 others(67): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01943.hp1 NA18999.hp1 others(2): Show |
a0002a0059 | a0002c0002a0059c0081 | a0002c0002t0001a0059c0081t0001 | a0002c0002t0001g0128a0002c0002t0001g0129a0002c0002t0001g0135others(2): Show | 5 | 266 | 0.0188 | 48 | c.730 others(67): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18939.hp1 NA18979.hp2 |
a0002a0056 | a0002c0002a0056c0077 | a0002c0002t0001a0056c0077t0001 | a0002c0002t0001g0154a0002c0002t0001g0162a0056c0077t0001g0263 | 3 | 266 | 0.0113 | 48 | c.730 others(67): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18943.hp2 NA20300.hp2 |
a0002a0058 | a0002c0002a0058c0082 | a0002c0002t0001a0058c0082t0001 | a0002c0002t0001g0120a0002c0002t0001g0156a0058c0082t0001g0131 | 3 | 266 | 0.0113 | 48 | c.730 others(67): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
| DNAH14_chr1_224924675_225404286 | 225335800 | T | TATATGTA others(41): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0198 | 1 | 240 | 0.0042 | 48 | c.100 others(69): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78433923 | A | AGGAAGGA others(41): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02970.hp2 HG04115.hp2 |
a0009a0098a0131 | a0009c0142a0098c0097a0131c0159 | a0009c0142t0001a0098c0097t0001a0131c0159t0001 | a0009c0142t0001g0035a0098c0097t0001g0105a0131c0159t0001g0095 | 3 | 252 | 0.0119 | 48 | c.122 others(66): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78541212 | T | TGGGTGGG others(41): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0065 | a0065c0068 | a0065c0068t0001 | a0065c0068t0001g0198 | 1 | 252 | 0.0040 | 48 | c.253 others(67): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
| DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0055 | 1 | 316 | 0.0032 | 48 | c.229 others(65): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGAG others(41): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0007 | 2 | 234 | 0.0086 | 48 | c.324 others(65): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
| DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(41): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02273.hp1 |
a0002a0003 | a0002c0004a0003c0018 | a0002c0004t0002a0003c0018t0001 | a0002c0004t0002g0016a0003c0018t0001g0101 | 2 | 234 | 0.0086 | 48 | c.324 others(65): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
| DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(41): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0048 | 1 | 234 | 0.0043 | 48 | c.324 others(65): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
| DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(41): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0005 | a0005c0078 | a0005c0078t0001 | a0005c0078t0001g0160 | 1 | 234 | 0.0043 | 48 | c.324 others(65): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
| DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(41): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 234 | 0.0043 | 48 | c.324 others(65): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
| DNAH7_chr2_195732703_196073837 | 195990891 | T | TTATATAC others(41): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0094 | 1 | 256 | 0.0039 | 48 | c.135 others(67): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 12/64 | chr2 | TogoVar | ||||||
| DNAI2_chr17_74269234_74319884 | 74301922 | G | GGAAAGAA others(41): Show |
intron_variant | MODIFIER | NA18942.hp1 NA19079.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0113a0003c0004t0001g0034 | 2 | 398 | 0.0050 | 48 | c.987 others(63): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI2_chr17_74269234_74319884 | 74301974 | G | GGAAAGAA others(41): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 398 | 0.0025 | 48 | c.987 others(63): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DNAI7_chr12_25103289_25200160 | 25120317 | G | GGAGAGAG others(41): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01943.hp2 HG03704.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0071a0001c0001t0001g0093others(2): Show | 5 | 336 | 0.0149 | 48 | c.124 others(67): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
| DNAI7_chr12_25103289_25200160 | 25174407 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 HG02895.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0113a0002c0002t0001g0253a0002c0002t0001g0254others(4): Show | 7 | 336 | 0.0208 | 48 | c.22- others(65): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
| DNAJA1_chr9_33020273_33044907 | 33039536 | C | CATATATA others(41): Show |
3_prime_UTR_variant | MODIFIER | NA18984.hp1 NA19009.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0003a0001c0001t0020g0118 | 3 | 444 | 0.0068 | 48 | c.*64 others(57): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 9/9 | 645 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
| DNAJB6_chr7_157332004_157422439 | 157357257 | T | TTCTTTCC others(41): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02135.hp1 NA18984.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0339a0001c0001t0001g0345a0001c0001t0001g0366others(3): Show | 6 | 372 | 0.0161 | 48 | c.-26 others(65): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
| DNAJB6_chr7_157332004_157422439 | 157357261 | T | TTCTTTCC others(41): Show |
intron_variant | MODIFIER | HG00673.hp2 NA19080.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0368a0001c0007t0001g0012 | 2 | 372 | 0.0054 | 48 | c.-26 others(65): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
| DNAJB6_chr7_157332004_157422439 | 157357265 | T | TTCTTTCC others(41): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0341 | 1 | 372 | 0.0027 | 48 | c.-26 others(65): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
| DNAJC25_chr9_111626334_111659345 | 111641092 | T | TCTGCCCG others(41): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 412 | 0.0024 | 48 | c.337 others(65): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DNAJC6_chr1_65304543_65420871 | 65417065 | C | CATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG03491.hp2 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0260a0002c0002t0001g0201a0002c0002t0001g0241 | 3 | 326 | 0.0092 | 48 | c.*40 others(59): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 1195 | chr1 | TogoVar | ||||||
| DNAL1_chr14_73639986_73708732 | 73648403 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 340 | 0.0029 | 48 | c.3+3 others(61): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |