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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH17_chr17_78418697_78582396 | 78575931 | TGAGGTGG others(8): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0083 | a0083c0227 | a0083c0227t0001 | a0083c0227t0001g0142 | 1 | 250 | 0.0040 | -15 | c.-25 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 1/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7838528 | ATTAAAGC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0041 | a0041c0064 | a0041c0064t0001 | a0041c0064t0001g0127 | 1 | 313 | 0.0032 | -15 | c.*49 others(26): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4787 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20957808 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp2 HG02109.hp1 others(6): Show |
a0001a0008a0010others(1): Show | a0001c0001a0008c0012a0008c0053others(3): Show | a0001c0001t0001a0008c0012t0001a0008c0053t0001others(3): Show | a0001c0001t0001g0224 a0008c0012t0001g0178 a0008c0012t0001g0181 others(6): Show |
9 | 35 | 0.2571 | -15 | c.106 others(36): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21009911 | AGGAGGGG others(8): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02074.hp2 |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0196 a0002c0004t0002g0016 |
2 | 135 | 0.0148 | -15 | c.588 others(34): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 41/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020387 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA20905.hp2 NA21309.hp1 |
a0002a0056 | a0002c0004a0056c0088 | a0002c0004t0001a0056c0088t0001 | a0002c0004t0001g0216 a0056c0088t0001g0186 |
2 | 232 | 0.0086 | -15 | c.563 others(32): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195778636 | ATAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp2 NA18945.hp2 NA18969.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 |
3 | 250 | 0.0120 | -15 | c.108 others(34): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195859184 | TCACTTAT others(8): Show |
T | intron_variant | MODIFIER | NA18969.hp2 NA19081.hp2 |
a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0201 a0001c0022t0002g0215 |
2 | 254 | 0.0079 | -15 | c.773 others(32): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 42/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 196064333 | AAATAAAT others(8): Show |
A | intron_variant | MODIFIER | NA20905.hp1 NA21309.hp1 |
a0001a0051 | a0001c0001a0051c0036 | a0001c0001t0001a0051c0036t0001 | a0001c0001t0001g0233 a0051c0036t0001g0087 |
2 | 254 | 0.0079 | -15 | c.15+ others(30): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 1/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38747370 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01081.hp2 others(29): Show |
a0002a0021a0028others(5): Show | a0002c0004a0002c0010a0002c0013others(10): Show | a0002c0004t0001a0002c0010t0001a0002c0010t0002others(11): Show | a0002c0004t0001g0122 a0002c0004t0001g0125 a0002c0004t0001g0150 others(29): Show |
32 | 284 | 0.1127 | -15 | c.129 others(34): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 8/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38874273 | TCCCTCCC others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 HG02896.hp1 others(1): Show |
a0027a0047a0057 | a0027c0039a0047c0077a0057c0061 | a0027c0039t0001a0047c0077t0001a0057c0061t0001 | a0027c0039t0001g0266 a0027c0039t0001g0267 a0047c0077t0001g0238 others(1): Show |
4 | 134 | 0.0299 | -15 | c.762 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38888420 | TCATTAAA others(8): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG02135.hp2 HG02293.hp1 |
a0001a0005a0008 | a0001c0035a0005c0005a0008c0018 | a0001c0035t0001a0005c0005t0001a0008c0018t0001 | a0001c0035t0001g0028 a0005c0005t0001g0048 a0008c0018t0001g0032 |
3 | 284 | 0.0106 | -15 | c.847 others(34): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 57/92 | chr6 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38925286 | ATTATTTT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp2 others(99): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0007a0001c0035others(63): Show | a0001c0001t0001a0001c0007t0001a0001c0035t0001others(63): Show | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0081 others(99): Show |
102 | 116 | 0.8793 | -15 | c.109 others(34): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 73/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38965065 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(150): Show |
a0001a0002a0003others(55): Show | a0001c0001a0001c0007a0001c0031others(82): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(83): Show | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0060 others(150): Show |
153 | 176 | 0.8693 | -15 | c.124 others(36): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11730990 | ATAATGGT others(8): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0100 | a0001c0100t0001 | a0001c0100t0001g0056 | 1 | 176 | 0.0057 | -15 | c.581 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 28/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11749063 | GGTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(64): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(51): Show | a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0088 others(64): Show |
67 | 110 | 0.6091 | -15 | c.661 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 32/68 | chr17 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11778329 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 |
a0026a0036 | a0026c0041a0036c0094 | a0026c0041t0001a0036c0094t0001 | a0026c0041t0001g0041 a0036c0094t0001g0063 |
2 | 35 | 0.0571 | -15 | c.755 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 38/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11805523 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG02717.hp1 |
a0002a0021a0046 | a0002c0125a0021c0049a0046c0087 | a0002c0125t0001a0021c0049t0001a0046c0087t0001 | a0002c0125t0001g0152 a0021c0049t0001g0159 a0046c0087t0001g0120 |
3 | 4 | 0.7500 | -15 | c.842 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 43/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11811989 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02559.hp1 |
a0002a0040 | a0002c0008a0040c0019 | a0002c0008t0001a0040c0019t0001 | a0002c0008t0001g0090 a0040c0019t0001g0001 |
2 | 109 | 0.0183 | -15 | c.870 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI3_chr1_85057327_85138138 | 85096511 | TTATATAT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(142): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0025 others(140): Show |
145 | 370 | 0.3919 | -15 | c.126 others(32): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25130536 | CAAAATAA others(8): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG01433.hp2 others(16): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0003a0002c0002t0001a0005c0004t0001 | a0001c0001t0003g0174 a0002c0002t0001g0003 a0002c0002t0001g0236 others(15): Show |
19 | 39 | 0.4872 | -15 | c.100 others(34): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
DNAJA3_chr16_4420868_4461775 | 4434886 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 100 | 0.0100 | -15 | c.345 others(30): Show |
DNAJA3 | ENSG00000103423.14 | transcript | ENST00000262375.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAJB13_chr11_73946026_73975281 | 73954000 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 NA19030.hp1 NA19079.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0002t0001g0001 others(1): Show |
4 | 212 | 0.0189 | -15 | c.68+ others(30): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DNAJC11_chr1_6629170_6706816 | 6669513 | TAGAAAAG others(8): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0126 others(18): Show |
24 | 173 | 0.1387 | -15 | c.277 others(32): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 3/15 | chr1 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67801836 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0359 | 1 | 64 | 0.0156 | -15 | c.502 others(32): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132415495 | GAATATGG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 316 | 0.0032 | -15 | c.-22 others(26): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 2006 | chr3 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132469963 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02559.hp2 others(13): Show |
a0001a0012a0014 | a0001c0001a0012c0022a0014c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0278 others(12): Show |
16 | 38 | 0.4211 | -15 | c.220 others(34): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21910829 | AAGGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02004.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0144 others(1): Show |
4 | 36 | 0.1111 | -15 | c.730 others(32): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21964091 | TAAATTTT others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0080 |
3 | 162 | 0.0185 | -15 | c.223 others(34): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
DNAJC22_chr12_49341888_49358690 | 49343737 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0001 a0001c0001t0023g0001 |
3 | 60 | 0.0500 | -15 | c.-43 others(26): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 3150 | chr12 | TogoVar | |||||||
DNAJC22_chr12_49341888_49358690 | 49356128 | AGTGAGCC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 360 | 0.0028 | -15 | c.*46 others(26): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 2439 | chr12 | TogoVar | |||||||
DNAJC25_chr9_111626334_111659345 | 111641533 | GGGTCGGA others(8): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01099.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0002t0003a0002c0003t0003 | a0001c0001t0004g0009 a0001c0001t0004g0047 a0001c0001t0004g0048 others(38): Show |
59 | 410 | 0.1439 | -15 | c.337 others(32): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAJC5_chr20_63890126_63941011 | 63912177 | CCTGTGAT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0136 a0001c0001t0034g0135 |
2 | 370 | 0.0054 | -15 | c.-11 others(34): Show |
DNAJC5 | ENSG00000101152.12 | transcript | ENST00000360864.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNAJC7_chr17_41971435_42022439 | 41986047 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 9 | 0.1111 | -15 | c.101 others(34): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
DNAJC9_chr10_73236954_73252255 | 73240983 | AGGCAGAC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(10): Show |
50 | 394 | 0.1269 | -15 | c.*24 others(26): Show |
DNAJC9 | ENSG00000213551.7 | transcript | ENST00000372950.6 | protein_coding | 970 | chr10 | TogoVar | |||||||
DNAL1_chr14_73639986_73708732 | 73647367 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(109): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0001g0008 a0001c0001t0001g0233 a0001c0001t0001g0234 others(107): Show |
112 | 338 | 0.3314 | -15 | c.3+2 others(28): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681605 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0050 | a0001c0001t0029g0075 a0001c0001t0050g0231 |
2 | 313 | 0.0064 | -15 | c.265 others(32): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681620 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0086 | 1 | 332 | 0.0030 | -15 | c.265 others(32): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154407218 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 57 | 0.0175 | -15 | c.-87 others(32): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 1/7 | chrX | TogoVar | |||||||
DNASE1L3_chr3_58187257_58215972 | 58206890 | CTATAAGG others(8): Show |
C | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 370 | 0.0027 | -15 | c.230 others(32): Show |
DNASE1L3 | ENSG00000163687.14 | transcript | ENST00000394549.7 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
DNASE2B_chr1_84393484_84420018 | 84411424 | GGGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG03195.hp2 NA18994.hp1 |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0001a0003c0007t0001 | a0001c0003t0001g0071 a0003c0007t0001g0059 |
2 | 420 | 0.0048 | -15 | c.547 others(30): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229387516 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02630.hp1 HG03579.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0003c0004t0001g0060 |
3 | 169 | 0.0178 | -15 | c.185 others(32): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229460156 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03540.hp1 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0001 a0007c0008t0001g0008 |
2 | 24 | 0.0833 | -15 | c.126 others(36): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229493641 | AATTGTAT others(8): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01981.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0041 others(17): Show |
20 | 174 | 0.1149 | -15 | c.114 others(36): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229554857 | AAAGAGAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG02109.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0040 others(10): Show |
13 | 99 | 0.1313 | -15 | c.848 others(32): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229586508 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00621.hp2 others(26): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0026 others(26): Show |
29 | 65 | 0.4462 | -15 | c.681 others(30): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229586536 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0001g0101 |
3 | 174 | 0.0172 | -15 | c.681 others(30): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229594952 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00642.hp2 others(11): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0011others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(11): Show |
14 | 104 | 0.1346 | -15 | c.277 others(32): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNHD1_chr11_6492280_6577020 | 6517652 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02109.hp2 HG02280.hp1 others(10): Show |
a0009a0066a0068others(3): Show | a0009c0010a0009c0088a0009c0092others(5): Show | a0009c0010t0001a0009c0088t0001a0009c0092t0001others(5): Show | a0009c0010t0001g0080 a0009c0010t0001g0082 a0009c0010t0001g0084 others(10): Show |
13 | 85 | 0.1529 | -15 | c.139 others(34): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 7/42 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DNHD1_chr11_6492280_6577020 | 6537546 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02738.hp1 HG02738.hp2 HG03239.hp1 others(8): Show |
a0016a0026a0027others(2): Show | a0016c0028a0016c0069a0026c0019others(3): Show | a0016c0028t0001a0016c0069t0001a0026c0019t0001others(3): Show | a0016c0028t0001g0267 a0016c0028t0001g0305 a0016c0069t0001g0266 others(7): Show |
11 | 340 | 0.0324 | -15 | c.299 others(32): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 14/42 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32686928 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG03834.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0212 a0001c0003t0010g0213 a0001c0003t0010g0214 others(1): Show |
4 | 220 | 0.0182 | -15 | c.102 others(32): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |