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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1227153 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0001 | 1 | 21 | 0.0476 | 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 | a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0009g0039 others(20): Show |
23 | 36 | 0.6389 | 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 | 38 | 0.0263 | 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 | a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0003t0024g0003 others(5): Show |
8 | 22 | 0.3636 | 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 | 15 | 0.0667 | 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 | a0001c0001t0001g0092 a0001c0001t0002g0184 a0001c0012t0001g0057 |
3 | 17 | 0.1765 | 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(19): Show | a0001c0002a0001c0023a0001c0046others(22): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(32): Show | a0001c0002t0001g0016 a0001c0002t0001g0119 a0001c0002t0001g0120 others(93): Show |
108 | 279 | 0.3871 | 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 | a0001c0002t0004g0079 | 1 | 244 | 0.0041 | 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 | a0011 | a0011c0046 | a0011c0046t0001 | a0011c0046t0001g0053 | 1 | 7 | 0.1429 | 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 | a0003c0003t0017 | a0003c0003t0017g0087 | 1 | 77 | 0.0130 | 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 |
a0001a0022 | a0001c0001a0022c0057 | a0001c0001t0002a0022c0057t0015 | a0001c0001t0002g0019 a0022c0057t0015g0115 |
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 |
a0001a0006a0015 | a0001c0053a0006c0006a0015c0017 | a0001c0053t0001a0006c0006t0003a0015c0017t0001 | a0001c0053t0001g0096 a0006c0006t0003g0026 a0015c0017t0001g0111 |
3 | 115 | 0.0261 | 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 | a0002c0001t0001g0097 | 1 | 422 | 0.0024 | 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 | 197 | 0.0051 | 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 | a0003c0003t0002g0008 a0003c0003t0002g0158 a0003c0003t0002g0159 others(10): Show |
14 | 241 | 0.0581 | 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 | a0001c0001t0001g0129 | 1 | 142 | 0.0070 | 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 |
a0002a0010a0039others(1): Show | a0002c0004a0010c0028a0010c0084others(2): Show | a0002c0004t0002a0010c0028t0001a0010c0084t0002others(2): Show | a0002c0004t0002g0143 a0010c0028t0001g0067 a0010c0028t0001g0084 others(3): Show |
6 | 77 | 0.0779 | 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 |
a0007a0016a0026others(1): Show | a0007c0010a0007c0097a0016c0014others(2): Show | a0007c0010t0001a0007c0097t0001a0016c0014t0001others(2): Show | a0007c0010t0001g0125 a0007c0010t0001g0127 a0007c0010t0001g0128 others(6): Show |
9 | 80 | 0.1125 | 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 |
a0001a0004a0014 | a0001c0003a0004c0006a0014c0013 | a0001c0003t0002a0004c0006t0001a0014c0013t0001 | a0001c0003t0002g0105 a0004c0006t0001g0061 a0004c0006t0001g0087 others(3): Show |
6 | 24 | 0.2500 | 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 |
a0056a0057 | a0056c0069a0057c0171 | a0056c0069t0004a0057c0171t0001 | a0056c0069t0004g0249 a0057c0171t0001g0293 |
2 | 48 | 0.0417 | 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 | a0203 | a0203c0072 | a0203c0072t0002 | a0203c0072t0002g0286 | 1 | 47 | 0.0213 | 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 |
a0002a0069 | a0002c0002a0069c0083 | a0002c0002t0001a0069c0083t0001 | a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0135 others(2): Show |
5 | 138 | 0.0362 | 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 | a0002c0002a0056c0079 | a0002c0002t0001a0056c0079t0001 | a0002c0002t0001g0154 a0002c0002t0001g0162 a0056c0079t0001g0263 |
3 | 136 | 0.0221 | 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 |
a0002a0062 | a0002c0002a0062c0084 | a0002c0002t0001a0062c0084t0001 | a0002c0002t0001g0120 a0002c0002t0001g0156 a0062c0084t0001g0131 |
3 | 136 | 0.0221 | 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 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 210 | 0.0048 | 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 |
a0009a0073a0092 | a0009c0142a0073c0097a0092c0159 | a0009c0142t0001a0073c0097t0001a0092c0159t0001 | a0009c0142t0001g0036 a0073c0097t0001g0105 a0092c0159t0001g0095 |
3 | 73 | 0.0411 | 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 | a0050 | a0050c0068 | a0050c0068t0001 | a0050c0068t0001g0197 | 1 | 148 | 0.0068 | 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 | 276 | 0.0036 | 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 | a0001c0001t0002g0004 a0001c0001t0002g0007 |
2 | 171 | 0.0117 | 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 | a0002c0004t0002g0016 a0003c0018t0001g0096 |
2 | 171 | 0.0117 | 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 | 170 | 0.0059 | 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 | a0005c0078t0001g0161 | 1 | 170 | 0.0059 | 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 | 170 | 0.0059 | 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 | 235 | 0.0043 | 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 | a0001c0001t0001g0115 a0003c0004t0001g0044 |
2 | 391 | 0.0051 | 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 | a0001c0001t0001g0076 | 1 | 370 | 0.0027 | 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 | a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0094 others(2): Show |
5 | 51 | 0.0980 | 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 | a0002c0002t0001g0118 a0002c0002t0001g0261 a0002c0002t0001g0262 others(4): Show |
7 | 62 | 0.1129 | 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 | a0001c0001t0021 | a0001c0001t0021g0003 a0001c0001t0021g0106 |
3 | 325 | 0.0092 | 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 | a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0366 others(3): Show |
6 | 344 | 0.0174 | 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 | a0001c0001t0001g0368 a0001c0007t0001g0050 |
2 | 366 | 0.0055 | 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 | a0001c0001t0013g0339 | 1 | 237 | 0.0042 | 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 | a0001c0001t0001g0210 | 1 | 410 | 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 | a0001c0001t0003g0257 a0002c0002t0001g0201 a0002c0002t0001g0237 |
3 | 144 | 0.0208 | 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 | a0001c0001t0004g0017 | 1 | 51 | 0.0196 | 48 | c.3+3 others(61): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(41): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0014 | 1 | 157 | 0.0064 | 48 | c.*59 others(59): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNPH1_chr6_43220629_43234481 | 43223489 | A | AGGGCATG others(41): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 416 | 0.0048 | 48 | c.*22 others(59): Show |
DNPH1 | ENSG00000112667.13 | transcript | ENST00000230431.11 | protein_coding | 2139 | chr6 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 144068 | A | AGGCGGCG others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0062 | 1 | 46 | 0.0217 | 48 | c.*33 others(59): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 9/9 | 3372 | chr17 | TogoVar | ||||||
DOCK11_chrX_118490815_118691147 | 118516004 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0173 |
2 | 17 | 0.1176 | 48 | c.102 others(67): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DOCK11_chrX_118490815_118691147 | 118516004 | A | ACTATATA others(41): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0183 | 1 | 16 | 0.0625 | 48 | c.102 others(67): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 1/52 | chrX | TogoVar |