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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH17_chr17_78418697_78582396 | 78541240 | T | TGGGGGGG others(15): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0147 | a0147c0024 | a0147c0024t0001 | a0147c0024t0001g0186 | 1 | 252 | 0.0040 | 22 | c.253 others(41): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG01074.hp1 others(9): Show |
a0002a0004a0040others(3): Show | a0002c0003a0002c0161a0002c0182others(8): Show | a0002c0003t0001a0002c0161t0003a0002c0182t0001others(8): Show | a0002c0003t0001g0044a0002c0003t0001g0221a0002c0161t0003g0246others(9): Show | 12 | 252 | 0.0476 | 22 | c.239 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78558447 | C | CTGACATC others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(49): Show |
a0001a0003a0004others(33): Show | a0001c0001a0001c0031a0001c0040others(46): Show | a0001c0001t0001a0001c0031t0001a0001c0040t0001others(46): Show | a0001c0001t0001g0159a0001c0001t0001g0188a0001c0031t0001g0163others(49): Show | 52 | 252 | 0.2064 | 22 | c.203 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 13/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78558528 | T | TGGGTGGA others(15): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0084 | a0084c0043 | a0084c0043t0001 | a0084c0043t0001g0073 | 1 | 252 | 0.0040 | 22 | c.203 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 13/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78570856 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0199 | a0004c0199t0002 | a0004c0199t0002g0141 | 1 | 252 | 0.0040 | 22 | c.918 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 6/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7714124 | C | CGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00621.hp2 others(5): Show |
a0002a0004a0006others(4): Show | a0002c0007a0004c0008a0006c0020others(5): Show | a0002c0007t0002a0004c0008t0005a0006c0020t0002others(5): Show | a0002c0007t0002g0018a0004c0008t0005g0073a0006c0020t0002g0025others(5): Show | 8 | 316 | 0.0253 | 22 | c.-46 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3619 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725425 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01192.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0032a0001c0049others(3): Show | a0001c0002t0003a0001c0032t0001a0001c0049t0002others(3): Show | a0001c0002t0003g0279a0001c0032t0001g0248a0001c0049t0002g0010others(4): Show | 7 | 316 | 0.0222 | 22 | c.229 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7733475 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01192.hp2 others(4): Show |
a0001a0002a0030 | a0001c0046a0001c0049a0001c0050others(3): Show | a0001c0046t0004a0001c0049t0002a0001c0050t0003others(3): Show | a0001c0046t0004g0230a0001c0049t0002g0010a0001c0050t0003g0306others(4): Show | 7 | 316 | 0.0222 | 22 | c.628 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 5/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741295 | T | TTTCTTTC others(15): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0097 | 1 | 316 | 0.0032 | 22 | c.168 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7752160 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01175.hp2 others(14): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0007a0003c0004others(11): Show | a0001c0001t0002a0002c0007t0002a0003c0004t0001others(11): Show | a0001c0001t0002g0044a0001c0001t0002g0048a0002c0007t0002g0003others(14): Show | 17 | 316 | 0.0538 | 22 | c.190 others(41): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20984029 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0119 | 1 | 234 | 0.0043 | 22 | c.755 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 48/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0190 | 1 | 234 | 0.0043 | 22 | c.563 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02132.hp2 others(2): Show |
a0001a0008 | a0001c0002a0001c0093a0008c0016 | a0001c0002t0001a0001c0093t0001a0008c0016t0001 | a0001c0002t0001g0168a0001c0002t0001g0198a0001c0093t0001g0083others(2): Show | 5 | 234 | 0.0214 | 22 | c.563 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02132.hp1 HG04204.hp1 |
a0004a0022 | a0004c0027a0022c0044 | a0004c0027t0001a0022c0044t0001 | a0004c0027t0001g0188a0022c0044t0001g0109 | 2 | 234 | 0.0086 | 22 | c.563 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0033 | a0033c0077 | a0033c0077t0001 | a0033c0077t0001g0230 | 1 | 234 | 0.0043 | 22 | c.563 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21040358 | A | ATCTTTTT others(15): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0132 | 1 | 234 | 0.0043 | 22 | c.450 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 32/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0021 | a0021c0041 | a0021c0041t0001 | a0021c0041t0001g0080 | 1 | 234 | 0.0043 | 22 | c.324 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13691167 | C | CTTTTAAA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp1 | a0016 | a0016c0200 | a0016c0200t0016 | a0016c0200t0016g0217 | 1 | 252 | 0.0040 | 22 | c.*81 others(31): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 79/79 | 816 | chr5 | TogoVar | |||||
DNAH5_chr5_13685328_13949688 | 13713440 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0073 | a0073c0096 | a0073c0096t0005 | a0073c0096t0005g0007 | 1 | 252 | 0.0040 | 22 | c.131 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0010 | a0010c0002 | a0010c0002t0019 | a0010c0002t0019g0228 | 1 | 252 | 0.0040 | 22 | c.895 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0019 | a0019c0018 | a0019c0018t0003 | a0019c0018t0003g0246 | 1 | 252 | 0.0040 | 22 | c.895 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778598 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01070.hp2 HG02523.hp1 others(3): Show |
a0008a0017a0022others(3): Show | a0008c0026a0017c0008a0022c0020others(3): Show | a0008c0026t0002a0017c0008t0002a0022c0020t0001others(3): Show | a0008c0026t0002g0036a0017c0008t0002g0214a0022c0020t0001g0109others(3): Show | 6 | 252 | 0.0238 | 22 | c.895 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02622.hp1 NA18612.hp1 others(1): Show |
a0022a0040a0053others(1): Show | a0022c0020a0040c0153a0053c0195others(1): Show | a0022c0020t0001a0040c0153t0001a0053c0195t0001others(1): Show | a0022c0020t0001g0067a0040c0153t0001g0205a0053c0195t0001g0223others(1): Show | 4 | 252 | 0.0159 | 22 | c.527 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13862860 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0017 | a0017c0008 | a0017c0008t0002 | a0017c0008t0002g0215 | 1 | 252 | 0.0040 | 22 | c.459 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 28/78 | chr5 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01069.hp2 others(7): Show |
a0001a0010a0041 | a0001c0001a0001c0040a0001c0044others(2): Show | a0001c0001t0002a0001c0040t0002a0001c0044t0002others(2): Show | a0001c0001t0002g0175a0001c0001t0002g0212a0001c0001t0002g0218others(7): Show | 10 | 256 | 0.0391 | 22 | c.114 others(43): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01891.hp2 others(8): Show |
a0001a0009a0011others(1): Show | a0001c0001a0009c0010a0009c0021others(2): Show | a0001c0001t0002a0009c0010t0005a0009c0021t0001others(2): Show | a0001c0001t0002g0160a0001c0001t0002g0170a0001c0001t0002g0177others(8): Show | 11 | 256 | 0.0430 | 22 | c.183 others(41): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195990814 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0222 | 2 | 256 | 0.0078 | 22 | c.135 others(41): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 12/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715925 | A | AATAAATA others(15): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0172 | 1 | 284 | 0.0035 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715958 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0028 | a0028c0027 | a0028c0027t0001 | a0028c0027t0001g0239 | 1 | 284 | 0.0035 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0030 | a0030c0137 | a0030c0137t0001 | a0030c0137t0001g0204 | 1 | 284 | 0.0035 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATTTTT others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0037 | 1 | 284 | 0.0035 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0040 | a0040c0076 | a0040c0076t0001 | a0040c0076t0001g0238 | 1 | 284 | 0.0035 | 22 | c.-35 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38766135 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01256.hp2 HG02683.hp2 others(1): Show |
a0003a0033 | a0003c0002a0003c0017a0033c0049 | a0003c0002t0001a0003c0017t0001a0033c0049t0001 | a0003c0002t0001g0017a0003c0017t0001g0043a0003c0017t0001g0128others(1): Show | 4 | 284 | 0.0141 | 22 | c.161 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 11/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38766139 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(56): Show |
a0006a0007a0009others(16): Show | a0006c0005a0006c0023a0006c0029others(30): Show | a0006c0005t0001a0006c0023t0001a0006c0029t0001others(32): Show | a0006c0005t0001g0032a0006c0005t0001g0044a0006c0005t0001g0051others(56): Show | 59 | 284 | 0.2078 | 22 | c.161 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 11/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38932183 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0009 | a0009c0052 | a0009c0052t0001 | a0009c0052t0001g0004 | 1 | 284 | 0.0035 | 22 | c.114 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38932216 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0061 | a0061c0110 | a0061c0110t0001 | a0061c0110t0001g0276 | 1 | 284 | 0.0035 | 22 | c.114 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11654355 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0129 | a0001c0129t0001 | a0001c0129t0001g0112 | 1 | 178 | 0.0056 | 22 | c.259 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG04204.hp2 |
a0004a0005a0050 | a0004c0042a0005c0131a0050c0116 | a0004c0042t0001a0005c0131t0001a0050c0116t0001 | a0004c0042t0001g0040a0005c0131t0001g0177a0050c0116t0001g0147 | 3 | 178 | 0.0169 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01168.hp2 HG02572.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0129a0002c0015others(3): Show | a0001c0003t0001a0001c0129t0001a0002c0015t0001others(3): Show | a0001c0003t0001g0087a0001c0129t0001g0112a0002c0015t0001g0149others(3): Show | 6 | 178 | 0.0337 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG06807.hp2 others(1): Show |
a0001a0059a0064others(1): Show | a0001c0117a0059c0126a0064c0092others(1): Show | a0001c0117t0001a0059c0126t0001a0064c0092t0001others(1): Show | a0001c0117t0001g0027a0059c0126t0001g0067a0064c0092t0001g0163others(1): Show | 4 | 178 | 0.0225 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843890 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0018 | a0018c0149 | a0018c0149t0001 | a0018c0149t0001g0011 | 1 | 178 | 0.0056 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843890 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0005 | a0005c0055 | a0005c0055t0001 | a0005c0055t0001g0102 | 1 | 178 | 0.0056 | 22 | c.950 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11926035 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0071 | a0071c0087 | a0071c0087t0001 | a0071c0087t0001g0120 | 1 | 178 | 0.0056 | 22 | c.118 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 62/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11930765 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 |
a0008a0071 | a0008c0132a0071c0087 | a0008c0132t0001a0071c0087t0001 | a0008c0132t0001g0058a0071c0087t0001g0120 | 2 | 178 | 0.0112 | 22 | c.121 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 63/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11960435 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03130.hp2 |
a0001a0016 | a0001c0014a0016c0011 | a0001c0014t0001a0016c0011t0001 | a0001c0014t0001g0096a0016c0011t0001g0121 | 2 | 178 | 0.0112 | 22 | c.128 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GAGATATA others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 382 | 0.0026 | 22 | c.682 others(37): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18906.hp1 NA18941.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0082a0003c0003t0002g0199a0003c0003t0002g0203 | 3 | 382 | 0.0079 | 22 | c.682 others(37): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66909285 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153a0001c0001t0001g0182 | 2 | 264 | 0.0076 | 22 | c.171 others(39): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(15): Show |
splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00673.hp1 HG00733.hp1 others(79): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0034others(79): Show | 82 | 336 | 0.2441 | 22 | c.189 others(35): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(15): Show |
splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 336 | 0.0030 | 22 | c.189 others(35): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar |