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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH10_chr12_123757301_123940714 | 123786681 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02486.hp2 others(8): Show |
a0001a0009a0019others(5): Show | a0001c0059a0009c0008a0019c0020others(5): Show | a0001c0059t0002a0009c0008t0001a0019c0020t0001others(5): Show | a0001c0059t0002g0014 a0009c0008t0001g0011 a0009c0008t0001g0013 others(8): Show |
11 | 82 | 0.1341 | 46 | c.142 others(63): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 9/78 | chr12 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911734 | G | GGGGGTCT others(39): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 | 1 | 153 | 0.0065 | 46 | c.101 others(67): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911856 | G | GGGGGCCT others(39): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0070 | 1 | 168 | 0.0060 | 46 | c.101 others(67): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18947.hp2 |
a0004a0063 | a0004c0004a0063c0094 | a0004c0004t0001a0063c0094t0001 | a0004c0004t0001g0040 a0063c0094t0001g0130 |
2 | 135 | 0.0148 | 46 | c.730 others(65): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG02293.hp1 NA19065.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 a0002c0002t0001g0127 |
2 | 135 | 0.0148 | 46 | c.730 others(65): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 134 | 0.0075 | 46 | c.730 others(65): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19007.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 a0002c0002t0001g0139 |
2 | 135 | 0.0148 | 46 | c.730 others(65): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0166 | 1 | 134 | 0.0075 | 46 | c.730 others(65): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGAG others(39): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0121 | 1 | 170 | 0.0059 | 46 | c.324 others(63): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGA others(39): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0100 | a0001c0100t0001 | a0001c0100t0001g0073 | 1 | 170 | 0.0059 | 46 | c.324 others(63): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAI4_chr1_66807885_66929856 | 66893055 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0237 | 1 | 233 | 0.0043 | 46 | c.530 others(61): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GGAGAGAG others(39): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04204.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 others(1): Show |
4 | 50 | 0.0800 | 46 | c.124 others(65): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 |
3 | 57 | 0.0526 | 46 | c.22- others(63): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 others(5): Show |
8 | 62 | 0.1290 | 46 | c.22- others(63): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25174407 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 56 | 0.0179 | 46 | c.22- others(63): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAJA1_chr9_33020273_33044907 | 33039536 | C | CATATATA others(39): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01192.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 a0001c0001t0012g0006 a0001c0001t0012g0107 others(2): Show |
5 | 327 | 0.0153 | 46 | c.*64 others(55): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 9/9 | 645 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJB6_chr7_157332004_157422439 | 157418928 | A | AGAGCCCG others(39): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0220 | 1 | 370 | 0.0027 | 46 | c.*28 others(57): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1490 | chr7 | TogoVar | |||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0202 | 1 | 206 | 0.0049 | 46 | c.83- others(61): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237109 | G | GAGAGAGA others(39): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 329 | 0.0030 | 46 | c.*29 others(57): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2829 | chr11 | TogoVar | |||||||
DNM3_chr1_171836498_172417717 | 172071086 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0108 | 1 | 15 | 0.0667 | 46 | c.142 others(65): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 172071086 | C | CATGTATA others(39): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0085 | 1 | 15 | 0.0667 | 46 | c.142 others(65): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DOCK11_chrX_118490815_118691147 | 118516004 | A | ACTATATA others(39): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0002t0001g0013 others(2): Show |
5 | 20 | 0.2500 | 46 | c.102 others(65): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 1/52 | chrX | TogoVar | |||||||
DOCK11_chrX_118490815_118691147 | 118516004 | A | ACTGTATA others(39): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0107 | 1 | 16 | 0.0625 | 46 | c.102 others(65): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 1/52 | chrX | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 127396092 | A | AGCTGCAG others(39): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG01106.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(25): Show | a0001c0001t0002g0013 a0001c0001t0002g0077 a0001c0001t0002g0128 others(35): Show |
38 | 134 | 0.2836 | 46 | c.392 others(65): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 50886208 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0012 | 1 | 185 | 0.0054 | 46 | c.163 others(63): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK5_chr8_25179689_25420711 | 25216252 | T | TGTATACA others(39): Show |
intron_variant | MODIFIER | HG03225.hp1 NA20129.hp1 |
a0001 | a0001c0020 | a0001c0020t0027a0001c0020t0065 | a0001c0020t0027g0026 a0001c0020t0065g0164 |
2 | 193 | 0.0104 | 46 | c.44- others(63): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | chr8 | TogoVar | |||||||
DOK6_chr18_69395888_69854087 | 69617725 | A | AAGAAAGA others(39): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01192.hp2 HG01943.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0001t0064others(7): Show | a0001c0001t0001g0121 a0001c0001t0011g0148 a0001c0001t0064g0096 others(7): Show |
10 | 99 | 0.1010 | 46 | c.289 others(65): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69659858 | A | ATATAACA others(39): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0003 | 1 | 147 | 0.0068 | 46 | c.290 others(65): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3490088 | T | TCATTCAT others(39): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 401 | 0.0025 | 46 | c.772 others(61): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3490110 | C | CCATTCAT others(39): Show |
intron_variant | MODIFIER | HG01978.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0102 a0001c0001t0003g0326 |
2 | 235 | 0.0085 | 46 | c.772 others(61): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3490111 | C | CATTCATT others(39): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0076 others(3): Show |
8 | 282 | 0.0284 | 46 | c.772 others(61): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89630611 | T | TGGGGGAG others(39): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 248 | 0.0040 | 46 | c.104 others(61): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89630656 | T | TGGGGGAG others(39): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 248 | 0.0040 | 46 | c.104 others(61): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634818 | C | CCCTTCCT others(39): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0151 |
2 | 212 | 0.0094 | 46 | c.105 others(63): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP2NB_chr16_68008436_68020911 | 68020785 | G | GTATATAT others(39): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 345 | 0.0029 | 46 | c.-50 others(57): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 4875 | chr16 | TogoVar | |||||||
DPEP3_chr16_67970663_67985499 | 67980874 | T | TATTTCAT others(39): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 299 | 0.0033 | 46 | c.-49 others(55): Show |
DPEP3 | ENSG00000141096.6 | transcript | ENST00000268793.6 | protein_coding | 376 | chr16 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72884953 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02074.hp2 HG03834.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0005g0174 a0001c0001t0005g0179 a0001c0001t0007g0175 others(2): Show |
5 | 193 | 0.0259 | 46 | c.32+ others(61): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72884953 | T | TATATATG others(39): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0194 | 1 | 189 | 0.0053 | 46 | c.32+ others(61): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72884955 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0180 | 1 | 230 | 0.0043 | 46 | c.32+ others(61): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35542945 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 106 | 0.0094 | 46 | c.24- others(59): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154654419 | T | TTCCTTCC others(39): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02922.hp2 |
a0001a0002 | a0001c0010a0002c0012 | a0001c0010t0010a0002c0012t0021 | a0001c0010t0010g0009 a0002c0012t0021g0035 |
2 | 17 | 0.1176 | 46 | c.681 others(65): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPY19L1_chr7_34923881_35042485 | 35041233 | C | CTACTTTC others(39): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0233 | 1 | 326 | 0.0031 | 46 | c.-38 others(57): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 3749 | chr7 | TogoVar | |||||||
DPY19L2_chr12_63553913_63673493 | 63592006 | G | GAGGGGAG others(39): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0155 | 1 | 330 | 0.0030 | 46 | c.158 others(65): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 16/21 | chr12 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0126 | 1 | 115 | 0.0087 | 46 | c.669 others(61): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 115 | 0.0087 | 46 | c.669 others(61): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0198 a0001c0002t0004g0158 |
2 | 116 | 0.0172 | 46 | c.669 others(61): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0092 | 1 | 115 | 0.0087 | 46 | c.669 others(61): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0056 | 1 | 115 | 0.0087 | 46 | c.669 others(61): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26439922 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18612.hp2 NA19086.hp2 |
a0003a0004a0005 | a0003c0005a0004c0003a0005c0006 | a0003c0005t0001a0004c0003t0001a0005c0006t0001 | a0003c0005t0001g0027 a0004c0003t0001g0231 a0005c0006t0001g0235 |
3 | 259 | 0.0116 | 46 | c.889 others(61): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31397452 | T | TTATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0302 a0001c0002t0001g0038 |
2 | 47 | 0.0426 | 46 | c.*39 others(57): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3041 | chr5 | TogoVar |