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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAAF3_chr19_55153665_55171613 | 55155313 | A | AGCTGGGG others(29): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009a0002c0003t0001g0050a0002c0003t0001g0054others(7): Show | 18 | 398 | 0.0452 | 36 | c.*37 others(47): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3351 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55155511 | T | TGGGTCTG others(29): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(87): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0051a0001c0001t0001g0113others(27): Show | 90 | 398 | 0.2261 | 36 | c.*35 others(47): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3153 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55155692 | T | TGGGTCTG others(29): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 398 | 0.0025 | 36 | c.*33 others(47): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 2972 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0118 | 1 | 398 | 0.0025 | 36 | c.-18 others(47): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG06807.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 2 | 398 | 0.0050 | 36 | c.-18 others(47): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170872 | C | CTCTCTCT others(29): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0072 | 1 | 398 | 0.0025 | 36 | c.-43 others(47): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4260 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433995 | A | ATTATATA others(29): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 338 | 0.0030 | 36 | c.104 others(53): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAAGAAA others(29): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0333 | 1 | 362 | 0.0028 | 36 | c.167 others(55): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123831218 | C | CTTTTTAG others(29): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02970.hp1 HG03098.hp1 others(1): Show |
a0010a0068 | a0010c0009a0068c0082 | a0010c0009t0002a0068c0082t0001 | a0010c0009t0002g0032a0010c0009t0002g0146a0010c0009t0002g0149others(1): Show | 4 | 170 | 0.0235 | 36 | c.454 others(53): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 26/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123908194 | C | CTCCCTGT others(29): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02717.hp2 others(1): Show |
a0001a0032 | a0001c0001a0001c0058a0032c0039 | a0001c0001t0001a0001c0058t0001a0032c0039t0001 | a0001c0001t0001g0057a0001c0001t0001g0114a0001c0058t0001g0033others(1): Show | 4 | 170 | 0.0235 | 36 | c.981 others(55): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTTTT others(29): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0015 | a0015c0124 | a0015c0124t0002 | a0015c0124t0002g0103 | 1 | 298 | 0.0034 | 36 | c.100 others(55): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(29): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02735.hp1 HG06807.hp2 others(2): Show |
a0004a0018a0040 | a0004c0004a0018c0011a0040c0034 | a0004c0004t0001a0018c0011t0001a0040c0034t0001 | a0004c0004t0001g0073a0004c0004t0001g0074a0018c0011t0001g0065others(2): Show | 5 | 266 | 0.0188 | 36 | c.730 others(55): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTAT others(29): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0026 | a0026c0020 | a0026c0020t0004 | a0026c0020t0004g0219 | 1 | 266 | 0.0038 | 36 | c.730 others(55): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0106 | 1 | 266 | 0.0038 | 36 | c.730 others(55): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 266 | 0.0038 | 36 | c.730 others(55): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAATA others(29): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0051 | a0051c0089 | a0051c0089t0001 | a0051c0089t0001g0232 | 1 | 266 | 0.0038 | 36 | c.730 others(55): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78433923 | A | AGGAAGGA others(29): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG01884.hp1 others(14): Show |
a0001a0005a0006others(12): Show | a0001c0001a0001c0064a0005c0067others(14): Show | a0001c0001t0001a0001c0064t0001a0005c0067t0001others(14): Show | a0001c0001t0001g0055a0001c0064t0001g0189a0005c0067t0001g0042others(14): Show | 17 | 252 | 0.0675 | 36 | c.122 others(54): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78540511 | C | CTGGGTGG others(29): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03195.hp1 HG03225.hp2 |
a0114a0115a0133 | a0114c0146a0115c0222a0133c0202 | a0114c0146t0001a0115c0222t0001a0133c0202t0002 | a0114c0146t0001g0131a0115c0222t0001g0128a0133c0202t0002g0119 | 3 | 252 | 0.0119 | 36 | c.253 others(53): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541071 | C | CGGGGTGG others(29): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02647.hp1 |
a0001a0135 | a0001c0111a0135c0194 | a0001c0111t0001a0135c0194t0007 | a0001c0111t0001g0069a0135c0194t0007g0107 | 2 | 252 | 0.0079 | 36 | c.253 others(55): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541087 | C | CGGGGTGG others(29): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0025 | a0025c0017 | a0025c0017t0001 | a0025c0017t0001g0078 | 1 | 252 | 0.0040 | 36 | c.253 others(55): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541087 | C | CGGGGTGG others(29): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0148 | a0148c0025 | a0148c0025t0001 | a0148c0025t0001g0241 | 1 | 252 | 0.0040 | 36 | c.253 others(55): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(29): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0241 | 1 | 316 | 0.0032 | 36 | c.168 others(53): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(29): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 |
a0012a0053 | a0012c0030a0053c0090 | a0012c0030t0001a0053c0090t0001 | a0012c0030t0001g0186a0053c0090t0001g0164 | 2 | 234 | 0.0086 | 36 | c.563 others(53): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(29): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0023 | a0023c0039 | a0023c0039t0001 | a0023c0039t0001g0091 | 1 | 234 | 0.0043 | 36 | c.563 others(53): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | NA18981.hp1 NA18989.hp2 NA19030.hp1 others(3): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0001a0002c0006t0001 | a0002c0004t0001g0229a0002c0006t0001g0063a0002c0006t0001g0064others(3): Show | 6 | 234 | 0.0256 | 36 | c.563 others(53): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0021 | 1 | 234 | 0.0043 | 36 | c.563 others(53): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(29): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19043.hp2 |
a0010a0029 | a0010c0056a0029c0055 | a0010c0056t0001a0029c0055t0001 | a0010c0056t0001g0135a0029c0055t0001g0181 | 2 | 234 | 0.0086 | 36 | c.324 others(53): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(29): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0216 | 1 | 234 | 0.0043 | 36 | c.324 others(53): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(29): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0136 | a0136c0142 | a0136c0142t0002 | a0136c0142t0002g0144 | 1 | 252 | 0.0040 | 36 | c.895 others(55): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842429 | A | AAGAAAGA others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0069 | a0007c0069t0001 | a0007c0069t0001g0154 | 1 | 252 | 0.0040 | 36 | c.527 others(53): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAAAGA others(29): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0136 | a0136c0142 | a0136c0142t0002 | a0136c0142t0002g0144 | 1 | 252 | 0.0040 | 36 | c.527 others(53): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84594283 | G | GAGCAGGA others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(101): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0005a0001c0010others(40): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(40): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(101): Show | 104 | 116 | 0.8966 | 36 | c.272 others(53): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 17/76 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(29): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0091 | 1 | 256 | 0.0039 | 36 | c.183 others(55): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTAT others(29): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0019 | a0019c0017 | a0019c0017t0001 | a0019c0017t0001g0014 | 1 | 178 | 0.0056 | 36 | c.950 others(55): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74296333 | G | GAGGAGAG others(29): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0196a0001c0002t0001g0093a0001c0002t0001g0145others(61): Show | 66 | 398 | 0.1658 | 36 | c.725 others(53): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 6/13 | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74301870 | G | GGAAGGAA others(29): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0017 | 1 | 398 | 0.0025 | 36 | c.987 others(51): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(29): Show |
splice_region_variant others(1): Show |
LOW | HG01517.hp1 HG02602.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195a0002c0002t0001g0202 | 2 | 336 | 0.0060 | 36 | c.189 others(49): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GGAGAGAG others(29): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01071.hp2 HG01168.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032a0001c0001t0001g0049a0001c0001t0001g0050others(16): Show | 19 | 336 | 0.0566 | 36 | c.124 others(55): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
DNAJA1_chr9_33020273_33044907 | 33039536 | C | CATATATA others(29): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01346.hp1 HG01934.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0005a0001c0001t0011g0065a0001c0001t0011g0070others(1): Show | 5 | 444 | 0.0113 | 36 | c.*64 others(45): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 9/9 | 645 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
DNAJC1_chr10_21751548_22008730 | 21813220 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 164 | 0.0061 | 36 | c.979 others(53): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21813220 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 164 | 0.0061 | 36 | c.979 others(53): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC25_chr9_111626334_111659345 | 111639898 | C | CTCTCCGT others(29): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 2 | 412 | 0.0049 | 36 | c.337 others(53): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTGTTTTT others(29): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 374 | 0.0027 | 36 | c.83- others(51): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0037 | a0001c0001t0005g0001a0001c0001t0037g0153 | 2 | 374 | 0.0054 | 36 | c.83- others(51): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC4_chr11_64225548_64239281 | 64237085 | A | AAGAGAGA others(29): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 338 | 0.0030 | 36 | c.*29 others(47): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2805 | chr11 | TogoVar | ||||||
DNAJC6_chr1_65304543_65420871 | 65417065 | C | CATATATA others(29): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01069.hp2 HG01109.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0007others(3): Show | a0001c0001t0001g0279a0001c0001t0003g0104a0001c0001t0003g0205others(6): Show | 9 | 326 | 0.0276 | 36 | c.*40 others(47): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 1195 | chr1 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73648403 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01167.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0004g0026a0001c0001t0005g0105a0001c0001t0005g0106others(13): Show | 16 | 340 | 0.0471 | 36 | c.3+3 others(49): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DNAL1_chr14_73639986_73708732 | 73648412 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0080 | 1 | 340 | 0.0029 | 36 | c.3+3 others(49): 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(29): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0055 | 1 | 279 | 0.0036 | 36 | c.*59 others(47): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(29): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0030 | a0001c0002t0003g0012a0001c0002t0003g0021a0001c0002t0003g0022others(2): Show | 6 | 279 | 0.0215 | 36 | c.*59 others(47): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar |