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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH11_chr7_21538039_21906839 | 21850188 | CTACTAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01884.hp1 others(58): Show |
a0001a0003a0007others(49): Show | a0001c0110a0003c0054a0003c0062others(56): Show | a0001c0110t0005a0003c0054t0002a0003c0062t0002others(56): Show | a0001c0110t0005g0245 a0003c0054t0002g0063 a0003c0062t0002g0281 others(58): Show |
61 | 296 | 0.2061 | -9 | c.108 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 66/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21896903 | TAATAAAA others(2): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03471.hp2 NA18906.hp2 others(1): Show |
a0005a0015a0149others(1): Show | a0005c0161a0015c0169a0149c0260others(1): Show | a0005c0161t0008a0015c0169t0008a0149c0260t0015others(1): Show | a0005c0161t0008g0099 a0015c0169t0008g0116 a0149c0260t0015g0226 others(1): Show |
4 | 296 | 0.0135 | -9 | c.130 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 79/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57301265 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp2 HG01891.hp1 others(19): Show |
a0002a0008a0009others(12): Show | a0002c0023a0008c0008a0008c0016others(15): Show | a0002c0023t0001a0008c0008t0002a0008c0016t0001others(15): Show | a0002c0023t0001g0142 a0008c0008t0002g0046 a0008c0008t0002g0078 others(19): Show |
22 | 30 | 0.7333 | -9 | c.113 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02615.hp1 HG02886.hp2 others(2): Show |
a0004a0011a0015 | a0004c0004a0011c0061a0015c0012 | a0004c0004t0001a0011c0061t0002a0015c0012t0001 | a0004c0004t0001g0089 a0011c0061t0002g0252 a0015c0012t0001g0108 others(2): Show |
5 | 26 | 0.1923 | -9 | c.279 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225011758 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01884.hp2 others(24): Show |
a0004a0007a0010others(16): Show | a0004c0032a0007c0007a0010c0010others(17): Show | a0004c0032t0001a0007c0007t0001a0010c0010t0001others(17): Show | a0004c0032t0001g0146 a0007c0007t0001g0011 a0010c0010t0001g0030 others(24): Show |
27 | 29 | 0.9310 | -9 | c.110 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 10/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225135855 | TATATATT others(2): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG01891.hp2 others(13): Show |
a0007a0008a0018others(3): Show | a0007c0007a0008c0009a0008c0049others(4): Show | a0007c0007t0001a0008c0009t0001a0008c0049t0001others(4): Show | a0007c0007t0001g0003 a0007c0007t0001g0010 a0007c0007t0001g0011 others(13): Show |
16 | 238 | 0.0672 | -9 | c.425 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 27/85 | chr1 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225274197 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02622.hp2 others(8): Show |
a0008a0011a0020others(5): Show | a0008c0009a0011c0036a0011c0122others(7): Show | a0008c0009t0001a0011c0036t0001a0011c0122t0001others(7): Show | a0008c0009t0001g0006 a0011c0036t0001g0214 a0011c0036t0001g0215 others(8): Show |
11 | 79 | 0.1392 | -9 | c.801 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225352088 | ATTAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(55): Show |
a0001a0006a0009others(18): Show | a0001c0001a0001c0008a0006c0006others(19): Show | a0001c0001t0001a0001c0008t0001a0006c0006t0001others(19): Show | a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 others(55): Show |
58 | 238 | 0.2437 | -9 | c.115 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 72/85 | chr1 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78477947 | ATTATCAT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02809.hp1 others(4): Show |
a0053a0069a0083others(4): Show | a0053c0231a0069c0217a0083c0227others(4): Show | a0053c0231t0001a0069c0217t0001a0083c0227t0001others(4): Show | a0053c0231t0001g0136 a0069c0217t0001g0237 a0083c0227t0001g0142 others(4): Show |
7 | 250 | 0.0280 | -9 | c.799 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78477996 | CCACCATC others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01433.hp2 HG01496.hp2 others(8): Show |
a0001a0004a0005others(8): Show | a0001c0128a0004c0083a0005c0119others(8): Show | a0001c0128t0001a0004c0083t0001a0005c0119t0001others(8): Show | a0001c0128t0001g0232 a0004c0083t0001g0151 a0005c0119t0001g0020 others(8): Show |
11 | 250 | 0.0440 | -9 | c.799 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78478014 | TCACCATC others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(32): Show |
a0001a0002a0004others(28): Show | a0001c0138a0002c0050a0004c0044others(32): Show | a0001c0138t0001a0002c0050t0002a0004c0044t0001others(32): Show | a0001c0138t0001g0226 a0002c0050t0002g0004 a0004c0044t0001g0106 others(32): Show |
35 | 224 | 0.1563 | -9 | c.799 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78478023 | CCACCACC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03579.hp1 |
a0045a0067a0111 | a0045c0201a0067c0219a0111c0046 | a0045c0201t0001a0067c0219t0001a0111c0046t0001 | a0045c0201t0001g0140 a0067c0219t0001g0122 a0111c0046t0001g0102 |
3 | 250 | 0.0120 | -9 | c.799 others(27): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78478654 | CACCATCA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG02056.hp1 others(1): Show |
a0001a0011a0027 | a0001c0001a0011c0013a0027c0148 | a0001c0001t0001a0011c0013t0001a0027c0148t0001 | a0001c0001t0001g0159 a0011c0013t0001g0168 a0011c0013t0001g0184 others(1): Show |
4 | 250 | 0.0160 | -9 | c.799 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78504471 | ACCACCCC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001a0002a0003others(88): Show | a0001c0001a0001c0002a0001c0008others(158): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(160): Show | a0001c0001t0001g0058 a0001c0001t0001g0159 a0001c0001t0001g0178 others(174): Show |
177 | 250 | 0.7080 | -9 | c.495 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 31/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78514503 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00738.hp1 others(20): Show |
a0004a0007a0010others(12): Show | a0004c0014a0007c0010a0007c0051others(17): Show | a0004c0014t0001a0007c0010t0001a0007c0051t0001others(17): Show | a0004c0014t0001g0014 a0004c0014t0001g0015 a0007c0010t0001g0201 others(20): Show |
23 | 94 | 0.2447 | -9 | c.411 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 26/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(24): Show |
a0001a0005a0009others(9): Show | a0001c0001a0001c0008a0001c0040others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(21): Show | a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0188 others(24): Show |
27 | 75 | 0.3600 | -9 | c.239 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78553311 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(17): Show |
a0001a0004a0005others(12): Show | a0001c0001a0001c0008a0001c0040others(17): Show | a0001c0001t0001a0001c0008t0001a0001c0040t0001others(17): Show | a0001c0001t0001g0188 a0001c0008t0001g0239 a0001c0040t0001g0057 others(17): Show |
20 | 250 | 0.0800 | -9 | c.217 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78554436 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01891.hp1 others(14): Show |
a0001a0008a0025others(14): Show | a0001c0208a0008c0213a0025c0048others(14): Show | a0001c0208t0001a0008c0213t0001a0025c0048t0001others(14): Show | a0001c0208t0001g0067 a0008c0213t0001g0138 a0025c0048t0001g0170 others(14): Show |
17 | 19 | 0.8947 | -9 | c.217 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01257.hp1 others(24): Show |
a0001a0002a0004others(7): Show | a0001c0005a0001c0018a0002c0003others(12): Show | a0001c0005t0001a0001c0018t0002a0002c0003t0001others(15): Show | a0001c0005t0001g0001 a0001c0005t0001g0083 a0001c0005t0001g0093 others(23): Show |
27 | 129 | 0.2093 | -9 | c.190 others(28): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20974797 | TGCTGGGA others(2): Show |
T | intron_variant | MODIFIER | HG03704.hp1 HG04204.hp2 |
a0040a0043 | a0040c0092a0043c0070 | a0040c0092t0001a0043c0070t0001 | a0040c0092t0001g0043 a0043c0070t0001g0044 |
2 | 232 | 0.0086 | -9 | c.812 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 51/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21002444 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG01496.hp1 NA18906.hp2 |
a0002a0025 | a0002c0089a0025c0090 | a0002c0089t0001a0025c0090t0001 | a0002c0089t0001g0146 a0025c0090t0001g0147 |
2 | 62 | 0.0323 | -9 | c.598 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 42/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21039100 | AAAACTGG others(2): Show |
A | intron_variant | MODIFIER | NA18948.hp1 NA18967.hp1 NA19083.hp2 |
a0001 | a0001c0002a0001c0034 | a0001c0002t0001a0001c0034t0001 | a0001c0002t0001g0154 a0001c0002t0001g0195 a0001c0034t0001g0060 |
3 | 232 | 0.0129 | -9 | c.459 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 33/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13916611 | ATATTAAT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG03540.hp2 others(1): Show |
a0038a0113a0140 | a0038c0025a0113c0113a0140c0114 | a0038c0025t0006a0113c0113t0001a0140c0114t0001 | a0038c0025t0006g0149 a0038c0025t0006g0152 a0113c0113t0001g0142 others(1): Show |
4 | 250 | 0.0160 | -9 | c.109 others(26): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 8/78 | chr5 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84553360 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00735.hp1 others(19): Show |
a0001a0005a0006others(7): Show | a0001c0001a0001c0005a0001c0015others(12): Show | a0001c0001t0001a0001c0005t0001a0001c0015t0001others(12): Show | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0067 others(19): Show |
22 | 52 | 0.4231 | -9 | c.160 others(26): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84763797 | TGGAAACT others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02647.hp1 HG02723.hp2 others(3): Show |
a0001a0020 | a0001c0005a0001c0028a0020c0042 | a0001c0005t0001a0001c0028t0001a0020c0042t0001 | a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0023 others(3): Show |
6 | 114 | 0.0526 | -9 | c.107 others(28): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 64/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 196046758 | TACTTACC others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02559.hp1 others(8): Show |
a0001a0010a0019 | a0001c0063a0010c0009a0019c0024 | a0001c0063t0001a0010c0009t0002a0019c0024t0003 | a0001c0063t0001g0042 a0010c0009t0002g0038 a0010c0009t0002g0039 others(8): Show |
11 | 254 | 0.0433 | -9 | c.398 others(24): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 5/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38733985 | AAAATGAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00741.hp2 others(23): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0007a0001c0101others(16): Show | a0001c0001t0001a0001c0007t0001a0001c0101t0001others(16): Show | a0001c0001t0001g0050 a0001c0001t0001g0111 a0001c0001t0001g0179 others(23): Show |
26 | 284 | 0.0915 | -9 | c.611 others(24): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 4/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38772971 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01071.hp1 others(16): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0038a0001c0040others(5): Show | a0001c0001t0001a0001c0038t0001a0001c0040t0002others(5): Show | a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0062 others(16): Show |
19 | 83 | 0.2289 | -9 | c.176 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38827733 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01256.hp2 others(19): Show |
a0004a0007a0012others(5): Show | a0004c0002a0004c0017a0004c0047others(8): Show | a0004c0002t0001a0004c0017t0001a0004c0047t0001others(8): Show | a0004c0002t0001g0043 a0004c0002t0001g0054 a0004c0002t0001g0073 others(19): Show |
22 | 47 | 0.4681 | -9 | c.408 others(26): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38963253 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02486.hp2 others(3): Show |
a0003a0017a0043others(1): Show | a0003c0021a0017c0053a0043c0115others(1): Show | a0003c0021t0001a0017c0053t0001a0043c0115t0001others(1): Show | a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0021t0001g0149 others(3): Show |
6 | 29 | 0.2069 | -9 | c.124 others(30): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11605476 | TCTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(72): Show |
a0001a0002a0003others(43): Show | a0001c0002a0001c0050a0001c0053others(65): Show | a0001c0002t0001a0001c0050t0001a0001c0053t0003others(65): Show | a0001c0002t0001g0023 a0001c0002t0001g0129 a0001c0002t0001g0145 others(72): Show |
75 | 80 | 0.9375 | -9 | c.418 others(26): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 1/68 | chr17 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11645873 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(36): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0012others(35): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(35): Show | a0001c0001t0001g0124 a0001c0003t0001g0087 a0001c0012t0001g0035 others(36): Show |
39 | 159 | 0.2453 | -9 | c.197 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 11/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11654355 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01884.hp1 others(21): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0024a0001c0093others(20): Show | a0001c0001t0001a0001c0024t0001a0001c0093t0001others(20): Show | a0001c0001t0001g0088 a0001c0024t0001g0006 a0001c0093t0001g0166 others(21): Show |
24 | 89 | 0.2697 | -9 | c.259 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11733860 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02965.hp1 others(2): Show |
a0014a0043a0057others(1): Show | a0014c0149a0014c0150a0043c0092others(2): Show | a0014c0149t0001a0014c0150t0002a0043c0092t0001others(2): Show | a0014c0149t0001g0011 a0014c0150t0002g0012 a0043c0092t0001g0163 others(2): Show |
5 | 20 | 0.2500 | -9 | c.581 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 28/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11826407 | AATTACTA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002a0003others(64): Show | a0001c0001a0001c0002a0001c0012others(104): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(104): Show | a0001c0001t0001g0032 a0001c0001t0001g0082 a0001c0001t0001g0088 others(117): Show |
120 | 176 | 0.6818 | -9 | c.924 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 48/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11851094 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
a0010a0014a0018others(6): Show | a0010c0035a0014c0149a0018c0017others(6): Show | a0010c0035t0001a0014c0149t0001a0018c0017t0001others(6): Show | a0010c0035t0001g0078 a0014c0149t0001g0011 a0018c0017t0001g0014 others(6): Show |
9 | 45 | 0.2000 | -9 | c.950 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11877473 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02486.hp1 others(5): Show |
a0015a0026a0038others(4): Show | a0015c0021a0015c0086a0026c0041others(5): Show | a0015c0021t0001a0015c0086t0001a0026c0041t0001others(5): Show | a0015c0021t0001g0003 a0015c0086t0001g0097 a0026c0041t0001g0041 others(5): Show |
8 | 36 | 0.2222 | -9 | c.104 others(30): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 53/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11893437 | CAAAGACT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(89): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0003a0001c0012others(78): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(78): Show | a0001c0001t0001g0032 a0001c0001t0001g0124 a0001c0003t0001g0170 others(89): Show |
92 | 176 | 0.5227 | -9 | c.112 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 58/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34473273 | CTTATTAT others(2): Show |
C | intron_variant | MODIFIER | NA18944.hp2 NA19063.hp1 NA19065.hp1 |
a0001a0013 | a0001c0001a0013c0015 | a0001c0001t0001a0013c0015t0001 | a0001c0001t0001g0248 a0001c0001t0001g0249 a0013c0015t0001g0250 |
3 | 207 | 0.0145 | -9 | c.49- others(26): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74286297 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01168.hp1 others(25): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0002g0281 a0001c0002t0001g0114 a0001c0002t0003g0260 others(21): Show |
28 | 35 | 0.8000 | -9 | c.346 others(24): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI3_chr1_85057327_85138138 | 85103888 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(161): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 others(158): Show |
164 | 218 | 0.7523 | -9 | c.148 others(26): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25113279 | CTGTTGTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01070.hp1 others(54): Show |
a0002a0005a0006 | a0002c0002a0005c0004a0006c0009 | a0002c0002t0001a0005c0004t0001a0006c0009t0001 | a0002c0002t0001g0003 a0002c0002t0001g0118 a0002c0002t0001g0235 others(53): Show |
57 | 204 | 0.2794 | -9 | c.161 others(28): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 13/15 | chr12 | TogoVar | |||||||
DNAJB13_chr11_73946026_73975281 | 73954000 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0062 others(8): Show |
13 | 221 | 0.0588 | -9 | c.68+ others(24): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DNAJB1_chr19_14509769_14523397 | 14521456 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02809.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 4 | 168 | 0.0238 | -9 | c.-31 others(20): Show |
DNAJB1 | ENSG00000132002.9 | transcript | ENST00000254322.3 | protein_coding | 3060 | chr19 | TogoVar | |||||||
DNAJB7_chr22_40854549_40867113 | 40858303 | TGCCACGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(17): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0005a0001c0001t0016a0005c0004t0005others(1): Show | a0001c0001t0005g0000 a0001c0001t0016g0000 a0005c0004t0005g0000 others(1): Show |
20 | 408 | 0.0490 | -9 | c.*27 others(20): Show |
DNAJB7 | ENSG00000172404.5 | transcript | ENST00000307221.5 | protein_coding | 1245 | chr22 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132460842 | TCCTTTTG others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02280.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0297 a0001c0001t0002g0133 a0001c0001t0002g0134 others(14): Show |
17 | 316 | 0.0538 | -9 | c.155 others(26): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 14/55 | chr3 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132469963 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01168.hp1 others(16): Show |
a0001a0003a0013others(1): Show | a0001c0001a0001c0019a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 others(16): Show |
19 | 41 | 0.4634 | -9 | c.220 others(28): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132486082 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG03491.hp2 HG03492.hp2 others(4): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0011 | a0001c0001t0001a0001c0003t0001a0010c0011t0006 | a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0003t0001g0229 others(4): Show |
7 | 90 | 0.0778 | -9 | c.326 others(28): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132506045 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(4): Show |
7 | 49 | 0.1429 | -9 | c.499 others(26): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAJC15_chr13_43018586_43119213 | 43053678 | TGTAAAAG others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00733.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0011a0001c0001t0046a0001c0001t0047others(11): Show | a0001c0001t0011g0089 a0001c0001t0011g0119 a0001c0001t0011g0127 others(24): Show |
28 | 350 | 0.0800 | -9 | c.109 others(28): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |