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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMRT1_chr9_836697_974090 | 861670 | C | CGGGGCAG others(33): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02280.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0142a0001c0001t0001g0301a0001c0001t0002g0205 | 3 | 306 | 0.0098 | 40 | c.538 others(59): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 238 | 0.0042 | 40 | c.668 others(59): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATGTAT others(33): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 238 | 0.0042 | 40 | c.668 others(59): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 398 | 0.0025 | 40 | c.-18 others(51): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(33): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0053 | 1 | 398 | 0.0025 | 40 | c.-43 others(51): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433930 | A | ATAATATT others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 338 | 0.0030 | 40 | c.104 others(57): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55473311 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02922.hp2 others(5): Show |
a0004a0005 | a0004c0005a0005c0004 | a0004c0005t0001a0004c0005t0005a0004c0005t0007others(1): Show | a0004c0005t0001g0296a0004c0005t0005g0286a0004c0005t0005g0287others(5): Show | 8 | 338 | 0.0237 | 40 | c.406 others(57): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3257766 | A | ACAATCTT others(33): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0334 | 1 | 362 | 0.0028 | 40 | c.305 others(59): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 33/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3408059 | T | TCCAGCGC others(33): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(69): Show |
a0001a0005a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0020a0001c0003t0004others(11): Show | a0001c0001t0001g0062a0001c0002t0020g0061a0001c0003t0004g0007others(69): Show | 72 | 362 | 0.1989 | 40 | c.-50 others(49): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 391 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123782329 | G | GCCTCCCC others(33): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 NA18522.hp1 others(2): Show |
a0006a0026a0027others(1): Show | a0006c0026a0006c0083a0026c0081others(2): Show | a0006c0026t0002a0006c0083t0001a0026c0081t0002others(2): Show | a0006c0026t0002g0081a0006c0083t0001g0157a0026c0081t0002g0155others(2): Show | 5 | 170 | 0.0294 | 40 | c.842 others(55): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 6/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(69): Show |
a0001a0003a0004others(23): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(31): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0052others(69): Show | 72 | 170 | 0.4235 | 40 | c.142 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACTATAT others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0039 | a0039c0031 | a0039c0031t0002 | a0039c0031t0002g0085 | 1 | 266 | 0.0038 | 40 | c.936 others(59): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361446 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0266 | 1 | 266 | 0.0038 | 40 | c.936 others(59): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18994.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157a0002c0002t0001g0165 | 2 | 266 | 0.0075 | 40 | c.730 others(59): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 266 | 0.0038 | 40 | c.730 others(59): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0074 | a0074c0065 | a0074c0065t0001 | a0074c0065t0001g0097 | 1 | 266 | 0.0038 | 40 | c.133 others(59): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01928.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0067a0004c0004t0001g0069 | 2 | 266 | 0.0075 | 40 | c.133 others(59): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0100 | 1 | 266 | 0.0038 | 40 | c.133 others(59): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0068 | a0068c0070 | a0068c0070t0001 | a0068c0070t0001g0096 | 1 | 266 | 0.0038 | 40 | c.133 others(59): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225006509 | T | TAAAATGG others(33): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0056 | 1 | 240 | 0.0042 | 40 | c.976 others(55): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 9/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335738 | T | TGTGCATA others(33): Show |
intron_variant | MODIFIER | HG03834.hp1 NA19002.hp1 |
a0004a0083 | a0004c0004a0083c0096 | a0004c0004t0001a0083c0096t0001 | a0004c0004t0001g0035a0083c0096t0001g0140 | 2 | 240 | 0.0083 | 40 | c.100 others(61): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | chr1 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0155 | 1 | 316 | 0.0032 | 40 | c.168 others(57): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(33): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0089 | 1 | 316 | 0.0032 | 40 | c.168 others(57): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7765175 | T | TCATGAGA others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0006a0001c0018others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0226a0001c0001t0002g0038a0001c0001t0002g0048others(42): Show | 45 | 316 | 0.1424 | 40 | c.333 others(57): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7765215 | G | GCATGAGA others(33): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01496.hp1 HG01981.hp1 others(10): Show |
a0001a0006a0010others(1): Show | a0001c0005a0001c0006a0001c0029others(6): Show | a0001c0005t0001a0001c0005t0003a0001c0006t0001others(8): Show | a0001c0005t0001g0093a0001c0005t0003g0285a0001c0006t0001g0158others(10): Show | 13 | 316 | 0.0411 | 40 | c.333 others(55): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7765295 | T | TCATGAGA others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01081.hp1 others(22): Show |
a0001a0002a0004others(2): Show | a0001c0005a0001c0032a0002c0003others(6): Show | a0001c0005t0001a0001c0032t0001a0002c0003t0001others(10): Show | a0001c0005t0001g0001a0001c0005t0001g0083a0001c0005t0001g0103others(21): Show | 25 | 316 | 0.0791 | 40 | c.333 others(55): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(33): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18906.hp2 |
a0002a0045 | a0002c0089a0045c0102 | a0002c0089t0001a0045c0102t0001 | a0002c0089t0001g0165a0045c0102t0001g0053 | 2 | 234 | 0.0086 | 40 | c.563 others(57): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(33): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0006 | 1 | 234 | 0.0043 | 40 | c.324 others(57): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74296333 | G | GAGGAGAG others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0295a0001c0002t0002g0296 | 2 | 398 | 0.0050 | 40 | c.725 others(57): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 6/13 | chr17 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GGAGAGAG others(33): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02976.hp2 HG03834.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0072a0001c0001t0001g0079others(5): Show | 8 | 336 | 0.0238 | 40 | c.124 others(59): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174507 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 | 1 | 336 | 0.0030 | 40 | c.22- others(57): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174508 | G | GGATATAT others(33): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01346.hp2 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0106a0002c0002t0001g0107others(13): Show | 17 | 336 | 0.0506 | 40 | c.22- others(57): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAJA1_chr9_33020273_33044907 | 33039536 | C | CATATATA others(33): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0022 | a0001c0001t0009g0007a0001c0001t0009g0010a0001c0001t0009g0080others(1): Show | 8 | 444 | 0.0180 | 40 | c.*64 others(49): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 9/9 | 645 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
DNAJB2_chr2_219274366_219291895 | 219290372 | G | GTGGGGGG others(33): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | 40 | c.*53 others(51): Show |
DNAJB2 | ENSG00000135924.17 | transcript | ENST00000336576.10 | protein_coding | 3478 | chr2 | TogoVar | ||||||
DNAJC11_chr1_6629170_6706816 | 6706343 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0126a0001c0001t0001g0128a0001c0001t0001g0135others(2): Show | 5 | 366 | 0.0137 | 40 | c.-45 others(51): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 4528 | chr1 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819660 | G | GAGAAAGA others(33): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 384 | 0.0026 | 40 | c.157 others(57): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67826671 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 384 | 0.0026 | 40 | c.79- others(55): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67826700 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 384 | 0.0026 | 40 | c.79- others(55): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
DNAJC16_chr1_15521848_15576733 | 15544151 | T | TACACACA others(33): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02145.hp1 HG03834.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0017 | a0001c0002t0003g0142a0001c0002t0003g0191a0001c0002t0017g0158 | 3 | 356 | 0.0084 | 40 | c.575 others(55): Show |
DNAJC16 | ENSG00000116138.13 | transcript | ENST00000375847.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAJC4_chr11_64225548_64239281 | 64237085 | A | AAGAGAGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 338 | 0.0059 | 40 | c.*29 others(51): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2805 | chr11 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237123 | G | GAGAGAGA others(33): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 40 | c.*29 others(51): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2843 | chr11 | TogoVar | ||||||
DNAJC6_chr1_65304543_65420871 | 65417065 | C | CATATATA others(33): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01192.hp1 others(10): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0003a0001c0003t0007a0002c0002t0001others(3): Show | a0001c0003t0003g0138a0001c0003t0003g0149a0001c0003t0003g0182others(10): Show | 13 | 326 | 0.0399 | 40 | c.*40 others(51): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 1195 | chr1 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73648403 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02080.hp2 HG02148.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0005g0085a0001c0001t0007g0213a0001c0001t0009g0327others(7): Show | 10 | 340 | 0.0294 | 40 | c.3+3 others(53): 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(33): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 1 | 279 | 0.0036 | 40 | c.*59 others(51): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 279 | 0.0036 | 40 | c.*59 others(51): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 279 | 0.0036 | 40 | c.*59 others(51): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0068 | 1 | 279 | 0.0036 | 40 | c.*59 others(51): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128259557 | C | CCATTCAA others(33): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0283 | 1 | 350 | 0.0029 | 40 | c.*48 others(51): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 4314 | chr9 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172071086 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 136 | 0.0074 | 40 | c.142 others(59): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DOCK10_chr2_224760090_225047468 | 224921112 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 172 | 0.0058 | 40 | c.244 others(57): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar |