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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH2_chr17_7712744_7838742 | 7793447 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01943.hp2 NA18906.hp1 NA18943.hp1 others(3): Show |
a0001a0002a0003 | a0001c0006a0001c0009a0002c0003others(1): Show | a0001c0006t0001a0001c0009t0002a0002c0003t0005others(1): Show | a0001c0006t0001g0239a0001c0009t0002g0062a0002c0003t0005g0064others(3): Show | 6 | 316 | 0.0190 | -8 | c.756 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 48/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7810862 | AAGAGGCT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00733.hp1 others(26): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0018others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0002t0001g0125others(26): Show | 29 | 316 | 0.0918 | -8 | c.972 others(27): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 63/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20941138 | ACTATTAG others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(7): Show |
a0001a0007a0026others(2): Show | a0001c0011a0001c0026a0007c0012others(4): Show | a0001c0011t0001a0001c0026t0001a0007c0012t0001others(4): Show | a0001c0011t0001g0125a0001c0026t0001g0119a0007c0012t0001g0179others(7): Show | 10 | 234 | 0.0427 | -8 | c.115 others(27): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 59/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20959610 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01361.hp2 others(7): Show |
a0001a0002a0012others(2): Show | a0001c0022a0002c0004a0002c0089others(3): Show | a0001c0022t0001a0002c0004t0001a0002c0089t0001others(3): Show | a0001c0022t0001g0161a0002c0004t0001g0022a0002c0004t0001g0032others(7): Show | 10 | 234 | 0.0427 | -8 | c.104 others(27): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 53/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG02145.hp1 others(3): Show |
a0001a0002a0011others(1): Show | a0001c0026a0002c0004a0002c0006others(2): Show | a0001c0026t0002a0002c0004t0001a0002c0006t0001others(2): Show | a0001c0026t0002g0003a0002c0004t0001g0124a0002c0006t0001g0063others(3): Show | 6 | 234 | 0.0256 | -8 | c.832 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20969086 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01109.hp1 others(31): Show |
a0002a0010a0011others(8): Show | a0002c0004a0002c0006a0002c0025others(12): Show | a0002c0004t0001a0002c0004t0002a0002c0006t0001others(13): Show | a0002c0004t0001g0022a0002c0004t0001g0028a0002c0004t0001g0032others(31): Show | 34 | 234 | 0.1453 | -8 | c.832 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21099233 | CATGGATG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG03017.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0085a0003c0005t0001g0094 | 2 | 234 | 0.0086 | -8 | c.222 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 16/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778492 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 |
a0130a0141 | a0130c0141a0141c0192 | a0130c0141t0002a0141c0192t0001 | a0130c0141t0002g0134a0141c0192t0001g0026 | 2 | 252 | 0.0079 | -8 | c.895 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13798736 | TTTATTTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp2 others(46): Show |
a0001a0002a0006others(37): Show | a0001c0035a0001c0128a0001c0130others(43): Show | a0001c0035t0002a0001c0128t0005a0001c0130t0017others(43): Show | a0001c0035t0002g0171a0001c0128t0005g0012a0001c0130t0017g0190others(46): Show | 49 | 252 | 0.1944 | -8 | c.788 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 47/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13798740 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG02723.hp2 HG03225.hp2 others(1): Show |
a0005a0024a0071 | a0005c0019a0024c0045a0071c0083 | a0005c0019t0001a0024c0045t0001a0071c0083t0001 | a0005c0019t0001g0057a0005c0019t0001g0077a0024c0045t0001g0060others(1): Show | 4 | 252 | 0.0159 | -8 | c.788 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 47/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13821548 | AAGATGAT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp2 HG02818.hp1 others(2): Show |
a0008a0009a0105 | a0008c0063a0008c0065a0009c0170others(2): Show | a0008c0063t0006a0008c0065t0002a0009c0170t0002others(2): Show | a0008c0063t0006g0151a0008c0065t0002g0016a0009c0170t0002g0115others(2): Show | 5 | 252 | 0.0198 | -8 | c.668 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 40/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842423 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01928.hp1 HG02055.hp1 others(6): Show |
a0001a0005a0010others(5): Show | a0001c0035a0005c0081a0010c0002others(5): Show | a0001c0035t0002a0005c0081t0001a0010c0002t0002others(5): Show | a0001c0035t0002g0171a0005c0081t0001g0064a0010c0002t0002g0211others(6): Show | 9 | 252 | 0.0357 | -8 | c.527 others(25): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84553365 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG04204.hp1 |
a0004a0014 | a0004c0007a0014c0017 | a0004c0007t0001a0014c0017t0001 | a0004c0007t0001g0114a0014c0017t0001g0115 | 2 | 116 | 0.0172 | -8 | c.160 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84580316 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(39): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0022a0001c0024others(15): Show | a0001c0001t0001a0001c0022t0001a0001c0024t0001others(15): Show | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0001t0001g0053others(39): Show | 42 | 116 | 0.3621 | -8 | c.222 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 14/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84667552 | TACCATCT others(1): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 HG03540.hp1 |
a0001a0012 | a0001c0020a0001c0021a0012c0019 | a0001c0020t0001a0001c0021t0001a0012c0019t0001 | a0001c0020t0001g0031a0001c0021t0001g0032a0012c0019t0001g0033 | 3 | 116 | 0.0259 | -8 | c.608 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 37/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84668850 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(11): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0015a0001c0029others(5): Show | a0001c0001t0001a0001c0015t0001a0001c0029t0001others(5): Show | a0001c0001t0001g0045a0001c0001t0001g0057a0001c0001t0001g0067others(11): Show | 14 | 116 | 0.1207 | -8 | c.608 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 37/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84683412 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG02818.hp2 others(4): Show |
a0001a0007a0015 | a0001c0035a0007c0009a0007c0047others(1): Show | a0001c0035t0001a0007c0009t0001a0007c0047t0001others(1): Show | a0001c0035t0001g0075a0007c0009t0001g0034a0007c0009t0001g0035others(4): Show | 7 | 116 | 0.0603 | -8 | c.691 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 42/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84692417 | GTAGATAG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01074.hp1 others(31): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0001c0029others(15): Show | a0001c0001t0001a0001c0015t0001a0001c0029t0001others(15): Show | a0001c0001t0001g0041a0001c0001t0001g0053a0001c0001t0001g0054others(31): Show | 34 | 116 | 0.2931 | -8 | c.729 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 45/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84709723 | GAGAAAGT others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01106.hp1 others(13): Show |
a0003a0007a0013 | a0003c0002a0003c0040a0007c0009others(3): Show | a0003c0002t0001a0003c0040t0001a0007c0009t0001others(3): Show | a0003c0002t0001g0001a0003c0002t0001g0003a0003c0002t0001g0004others(13): Show | 16 | 116 | 0.1379 | -8 | c.925 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 55/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84763714 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02897.hp1 NA18906.hp2 others(1): Show |
a0001a0008 | a0001c0026a0008c0011 | a0001c0026t0001a0008c0011t0001 | a0001c0026t0001g0015a0008c0011t0001g0048a0008c0011t0001g0064others(1): Show | 4 | 116 | 0.0345 | -8 | c.107 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 64/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195740613 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01168.hp1 HG01346.hp1 others(6): Show |
a0001a0003a0010others(2): Show | a0001c0006a0003c0004a0010c0012others(3): Show | a0001c0006t0001a0003c0004t0001a0010c0012t0004others(3): Show | a0001c0006t0001g0064a0003c0004t0001g0096a0003c0004t0001g0097others(6): Show | 9 | 256 | 0.0352 | -8 | c.118 others(27): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740615 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG03041.hp1 others(3): Show |
a0001a0004a0010others(1): Show | a0001c0006a0004c0003a0010c0012others(2): Show | a0001c0006t0001a0004c0003t0004a0010c0012t0004others(2): Show | a0001c0006t0001g0054a0001c0006t0001g0055a0004c0003t0004g0067others(3): Show | 6 | 256 | 0.0234 | -8 | c.118 others(27): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195782010 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03471.hp1 NA20300.hp1 |
a0005a0033 | a0005c0007a0005c0062a0033c0060 | a0005c0007t0006a0005c0062t0005a0033c0060t0005 | a0005c0007t0006g0243a0005c0062t0005g0240a0033c0060t0005g0239 | 3 | 256 | 0.0117 | -8 | c.108 others(29): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195852913 | CACAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG01928.hp2 others(9): Show |
a0003a0022a0035 | a0003c0004a0003c0025a0022c0070others(1): Show | a0003c0004t0003a0003c0025t0003a0022c0070t0003others(1): Show | a0003c0004t0003g0094a0003c0004t0003g0098a0003c0004t0003g0102others(9): Show | 12 | 256 | 0.0469 | -8 | c.878 others(25): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 46/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195852915 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02647.hp1 others(9): Show |
a0007a0017a0044 | a0007c0008a0017c0019a0044c0031 | a0007c0008t0001a0017c0019t0001a0044c0031t0001 | a0007c0008t0001g0110a0007c0008t0001g0111a0007c0008t0001g0112others(9): Show | 12 | 256 | 0.0469 | -8 | c.878 others(25): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 46/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195921352 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01069.hp1 others(27): Show |
a0005a0006a0007others(2): Show | a0005c0007a0005c0062a0006c0005others(3): Show | a0005c0007t0006a0005c0062t0005a0006c0005t0001others(4): Show | a0005c0007t0006g0241a0005c0007t0006g0243a0005c0007t0006g0253others(27): Show | 30 | 256 | 0.1172 | -8 | c.393 others(25): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 24/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195974755 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02129.hp1 HG02165.hp2 others(6): Show |
a0001a0002a0007others(4): Show | a0001c0063a0002c0002a0007c0008others(4): Show | a0001c0063t0001a0002c0002t0001a0007c0008t0001others(4): Show | a0001c0063t0001g0041a0002c0002t0001g0141a0002c0002t0001g0142others(6): Show | 9 | 256 | 0.0352 | -8 | c.183 others(27): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195976747 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG01346.hp2 others(28): Show |
a0002a0003a0013others(8): Show | a0002c0002a0003c0004a0003c0025others(11): Show | a0002c0002t0001a0003c0004t0003a0003c0025t0003others(11): Show | a0002c0002t0001g0156a0003c0004t0003g0094a0003c0004t0003g0098others(28): Show | 31 | 256 | 0.1211 | -8 | c.183 others(27): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195980061 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02451.hp1 others(8): Show |
a0005a0032 | a0005c0007a0005c0062a0032c0061 | a0005c0007t0005a0005c0007t0006a0005c0062t0005others(1): Show | a0005c0007t0005g0246a0005c0007t0006g0241a0005c0007t0006g0243others(8): Show | 11 | 256 | 0.0430 | -8 | c.183 others(27): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38725216 | TCGCTTGA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 HG03098.hp1 others(1): Show |
a0008a0046a0053 | a0008c0008a0008c0127a0046c0104others(1): Show | a0008c0008t0001a0008c0127t0001a0046c0104t0001others(1): Show | a0008c0008t0001g0010a0008c0127t0001g0152a0046c0104t0001g0013others(1): Show | 4 | 284 | 0.0141 | -8 | c.525 others(25): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 3/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38729203 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02615.hp1 |
a0001a0012 | a0001c0001a0001c0102a0012c0016 | a0001c0001t0001a0001c0102t0004a0012c0016t0001 | a0001c0001t0001g0022a0001c0102t0004g0026a0012c0016t0001g0155 | 3 | 284 | 0.0106 | -8 | c.526 others(23): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 3/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38772971 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(67): Show |
a0001a0005a0006others(19): Show | a0001c0105a0005c0003a0005c0024others(33): Show | a0001c0105t0001a0005c0003t0001a0005c0003t0002others(36): Show | a0001c0105t0001g0135a0005c0003t0001g0014a0005c0003t0002g0034others(67): Show | 70 | 284 | 0.2465 | -8 | c.176 others(27): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38827733 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01496.hp1 others(7): Show |
a0003a0006a0011others(4): Show | a0003c0002a0006c0029a0011c0117others(4): Show | a0003c0002t0001a0006c0029t0001a0011c0117t0001others(4): Show | a0003c0002t0001g0060a0003c0002t0001g0090a0003c0002t0001g0140others(7): Show | 10 | 284 | 0.0352 | -8 | c.408 others(25): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38873727 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG01891.hp1 others(12): Show |
a0012a0018a0027others(5): Show | a0012c0016a0018c0030a0018c0059others(6): Show | a0012c0016t0001a0018c0030t0001a0018c0059t0002others(6): Show | a0012c0016t0001g0155a0012c0016t0001g0233a0012c0016t0001g0235others(12): Show | 15 | 284 | 0.0528 | -8 | c.762 others(25): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874097 | TCTTTCTC others(1): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG02135.hp1 HG02257.hp1 others(6): Show |
a0003a0005a0007others(3): Show | a0003c0017a0005c0003a0007c0012others(4): Show | a0003c0017t0001a0005c0003t0002a0007c0012t0002others(4): Show | a0003c0017t0001g0128a0005c0003t0002g0068a0005c0003t0002g0101others(6): Show | 9 | 284 | 0.0317 | -8 | c.762 others(25): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38963253 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01496.hp2 others(13): Show |
a0001a0004a0011others(6): Show | a0001c0007a0001c0031a0001c0129others(9): Show | a0001c0007t0001a0001c0031t0001a0001c0129t0001others(9): Show | a0001c0007t0001g0170a0001c0031t0001g0084a0001c0031t0001g0085others(13): Show | 16 | 284 | 0.0563 | -8 | c.124 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38963680 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02523.hp1 HG03704.hp1 others(3): Show |
a0004a0005a0019others(3): Show | a0004c0015a0005c0003a0019c0053others(3): Show | a0004c0015t0001a0005c0003t0002a0019c0053t0001others(3): Show | a0004c0015t0001g0077a0005c0003t0002g0141a0019c0053t0001g0227others(3): Show | 6 | 284 | 0.0211 | -8 | c.124 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 39010820 | CGTATGTA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(81): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0031a0001c0036others(35): Show | a0001c0001t0001a0001c0031t0001a0001c0036t0001others(35): Show | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0092others(81): Show | 84 | 284 | 0.2958 | -8 | c.133 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 89/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 39011158 | AAACAACC others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(48): Show |
a0001a0002a0003others(13): Show | a0001c0007a0001c0038a0002c0010others(19): Show | a0001c0007t0001a0001c0007t0002a0001c0038t0001others(22): Show | a0001c0007t0001g0073a0001c0007t0001g0117a0001c0007t0001g0176others(48): Show | 51 | 284 | 0.1796 | -8 | c.133 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 89/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11655351 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01496.hp2 others(3): Show |
a0002a0004a0005others(3): Show | a0002c0123a0004c0071a0005c0108others(3): Show | a0002c0123t0001a0004c0071t0001a0005c0108t0001others(3): Show | a0002c0123t0001g0098a0004c0071t0001g0116a0005c0108t0001g0030others(3): Show | 6 | 178 | 0.0337 | -8 | c.259 others(27): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11688093 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG02132.hp2 others(7): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0024a0003c0013others(7): Show | a0001c0001t0001a0001c0024t0001a0003c0013t0001others(7): Show | a0001c0001t0001g0088a0001c0024t0001g0006a0003c0013t0001g0033others(7): Show | 10 | 178 | 0.0562 | -8 | c.374 others(27): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 19/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11707959 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 NA19056.hp2 |
a0006a0032a0065 | a0006c0046a0032c0089a0065c0067 | a0006c0046t0001a0032c0089t0001a0065c0067t0001 | a0006c0046t0001g0037a0032c0089t0001g0094a0065c0067t0001g0038 | 3 | 178 | 0.0169 | -8 | c.555 others(27): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11708010 | CACACAGA others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp1 NA18522.hp1 NA18522.hp2 |
a0017a0020a0069 | a0017c0021a0020c0026a0069c0022 | a0017c0021t0001a0020c0026t0001a0069c0022t0001 | a0017c0021t0001g0003a0020c0026t0001g0164a0069c0022t0001g0002 | 3 | 178 | 0.0169 | -8 | c.555 others(27): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11711887 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 |
a0034a0078 | a0034c0091a0078c0027 | a0034c0091t0001a0078c0027t0001 | a0034c0091t0001g0150a0078c0027t0001g0075 | 2 | 178 | 0.0112 | -8 | c.555 others(27): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11852814 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp1 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0100a0001c0142others(6): Show | a0001c0003t0001a0001c0100t0001a0001c0142t0001others(6): Show | a0001c0003t0001g0087a0001c0100t0001g0056a0001c0142t0001g0046others(6): Show | 9 | 178 | 0.0506 | -8 | c.950 others(27): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11877473 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01496.hp2 others(11): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0053a0001c0100others(10): Show | a0001c0002t0001a0001c0053t0003a0001c0100t0001others(10): Show | a0001c0002t0001g0129a0001c0002t0001g0145a0001c0053t0003g0021others(11): Show | 14 | 178 | 0.0787 | -8 | c.104 others(29): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 53/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11941694 | GGATAGAT others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03831.hp1 |
a0061a0067 | a0061c0115a0067c0094 | a0061c0115t0001a0067c0094t0001 | a0061c0115t0001g0079a0067c0094t0001g0063 | 2 | 178 | 0.0112 | -8 | c.126 others(27): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 66/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34467440 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(94): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0016a0001c0020others(4): Show | a0001c0001t0001a0001c0016t0001a0001c0020t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(69): Show | 97 | 382 | 0.2539 | -8 | c.48+ others(23): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02895.hp2 others(7): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0007a0002c0002t0001g0300a0002c0002t0001g0301others(4): Show | 10 | 382 | 0.0262 | -8 | c.682 others(23): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74301862 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG01168.hp2 NA18948.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0174a0001c0001t0001g0184others(1): Show | 4 | 398 | 0.0101 | -8 | c.987 others(23): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |