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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH10_chr12_123757301_123940714 | 123896148 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0008 | 1 | 170 | 0.0059 | 20 | c.928 others(39): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911594 | T | TGGGGGGG others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03492.hp2 |
a0003a0052 | a0003c0005a0052c0094 | a0003c0005t0002a0052c0094t0002 | a0003c0005t0002g0070 a0052c0094t0002g0151 |
2 | 170 | 0.0118 | 20 | c.101 others(39): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21612554 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0218 | a0218c0178 | a0218c0178t0002 | a0218c0178t0002g0126 | 1 | 298 | 0.0034 | 20 | c.385 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 20/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789763 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0128 | a0128c0248 | a0128c0248t0001 | a0128c0248t0001g0230 | 1 | 298 | 0.0034 | 20 | c.100 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0037 | a0037c0198 | a0037c0198t0002 | a0037c0198t0002g0143 | 1 | 298 | 0.0034 | 20 | c.100 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19084.hp2 |
a0181a0217 | a0181c0131a0217c0242 | a0181c0131t0004a0217c0242t0001 | a0181c0131t0004g0108 a0217c0242t0001g0129 |
2 | 298 | 0.0067 | 20 | c.100 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0012 | a0012c0014 | a0012c0014t0002 | a0012c0014t0002g0053 | 1 | 298 | 0.0034 | 20 | c.100 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01934.hp1 HG02071.hp1 others(3): Show |
a0006a0012a0065others(3): Show | a0006c0266a0012c0014a0065c0136others(3): Show | a0006c0266t0005a0012c0014t0013a0065c0136t0001others(3): Show | a0006c0266t0005g0137 a0012c0014t0013g0047 a0065c0136t0001g0239 others(3): Show |
6 | 298 | 0.0201 | 20 | c.100 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01258.hp1 others(10): Show |
a0007a0010a0013others(8): Show | a0007c0217a0007c0270a0010c0007others(9): Show | a0007c0217t0001a0007c0270t0006a0010c0007t0003others(9): Show | a0007c0217t0001g0182 a0007c0270t0006g0148 a0010c0007t0003g0288 others(10): Show |
13 | 298 | 0.0436 | 20 | c.100 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02083.hp1 HG02886.hp1 |
a0003a0019a0132 | a0003c0054a0019c0061a0132c0047 | a0003c0054t0002a0019c0061t0003a0132c0047t0001 | a0003c0054t0002g0063 a0019c0061t0003g0286 a0132c0047t0001g0114 |
3 | 298 | 0.0101 | 20 | c.100 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21901934 | T | TTGGCCTG others(13): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0113 | a0113c0058 | a0113c0058t0022 | a0113c0058t0022g0002 | 1 | 298 | 0.0034 | 20 | c.*68 others(29): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 96 | chr7 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163 | 1 | 266 | 0.0038 | 20 | c.936 others(39): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57427138 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0053 | a0053c0039 | a0053c0039t0001 | a0053c0039t0001g0062 | 1 | 266 | 0.0038 | 20 | c.525 others(39): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02735.hp1 HG02965.hp1 |
a0001a0013 | a0001c0001a0013c0011 | a0001c0001t0001a0013c0011t0001 | a0001c0001t0001g0208 a0001c0001t0001g0254 a0013c0011t0001g0090 |
3 | 266 | 0.0113 | 20 | c.133 others(39): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 |
a0017 | a0017c0009 | a0017c0009t0001 | a0017c0009t0001g0111 a0017c0009t0001g0115 |
2 | 266 | 0.0075 | 20 | c.133 others(39): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01975.hp1 others(10): Show |
a0003a0005a0026others(3): Show | a0003c0003a0005c0004a0026c0023others(3): Show | a0003c0003t0001a0003c0003t0002a0005c0004t0001others(4): Show | a0003c0003t0001g0048 a0003c0003t0001g0062 a0003c0003t0001g0063 others(10): Show |
13 | 240 | 0.0542 | 20 | c.135 others(39): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225082171 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00621.hp1 others(9): Show |
a0001a0002a0011others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0008t0002others(5): Show | a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0008t0001g0151 others(9): Show |
12 | 240 | 0.0500 | 20 | c.313 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 19/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335826 | T | TATGTACA others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 NA18906.hp1 |
a0020a0069 | a0020c0019a0020c0037a0069c0053 | a0020c0019t0001a0020c0037t0001a0069c0053t0001 | a0020c0019t0001g0101 a0020c0037t0001g0104 a0069c0053t0001g0007 |
3 | 240 | 0.0125 | 20 | c.100 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335837 | A | ATACATAC others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01081.hp2 others(23): Show |
a0001a0006a0023others(6): Show | a0001c0001a0001c0008a0006c0006others(7): Show | a0001c0001t0001a0001c0008t0001a0001c0008t0002others(8): Show | a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0158 others(23): Show |
26 | 240 | 0.1083 | 20 | c.100 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00735.hp1 others(18): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0003c0003others(16): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(16): Show | a0001c0001t0001g0170 a0002c0002t0001g0110 a0002c0002t0001g0113 others(18): Show |
21 | 240 | 0.0875 | 20 | c.123 others(39): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78460321 | C | CGTGCATG others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(83): Show |
a0001a0002a0003others(51): Show | a0001c0002a0001c0031a0001c0054others(78): Show | a0001c0002t0001a0001c0031t0001a0001c0054t0001others(78): Show | a0001c0002t0001g0205 a0001c0031t0001g0163 a0001c0054t0001g0192 others(83): Show |
86 | 252 | 0.3413 | 20 | c.934 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 58/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78460359 | T | TGTGTGCA others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0142 | a0142c0093 | a0142c0093t0001 | a0142c0093t0001g0089 | 1 | 252 | 0.0040 | 20 | c.934 others(37): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 58/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540447 | A | ATGGATGG others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(40): Show |
a0001a0003a0004others(23): Show | a0001c0001a0001c0008a0001c0040others(35): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(36): Show | a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0188 others(40): Show |
43 | 252 | 0.1706 | 20 | c.253 others(37): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540447 | A | ATGGGTGG others(13): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18971.hp2 |
a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0203 a0006c0004t0001g0204 |
2 | 252 | 0.0079 | 20 | c.253 others(37): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540899 | G | GTGGGTGG others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0061 | a0061c0057 | a0061c0057t0001 | a0061c0057t0001g0164 | 1 | 252 | 0.0040 | 20 | c.253 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02976.hp2 HG03017.hp1 others(2): Show |
a0004a0008a0081others(2): Show | a0004c0085a0008c0181a0081c0214others(2): Show | a0004c0085t0001a0008c0181t0001a0081c0214t0001others(2): Show | a0004c0085t0001g0022 a0008c0181t0001g0234 a0081c0214t0001g0137 others(2): Show |
5 | 252 | 0.0198 | 20 | c.239 others(37): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7714124 | C | CGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG02004.hp2 others(9): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0002a0001c0005t0002a0001c0006t0002others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0053 a0001c0005t0002g0055 others(9): Show |
12 | 316 | 0.0380 | 20 | c.-46 others(31): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3619 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7725425 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 |
a0026 | a0026c0030 | a0026c0030t0003 | a0026c0030t0003g0302 a0026c0030t0003g0305 |
2 | 316 | 0.0063 | 20 | c.229 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741232 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0139 | a0001c0139t0001 | a0001c0139t0001g0220 | 1 | 316 | 0.0032 | 20 | c.168 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741236 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0225 | 1 | 316 | 0.0032 | 20 | c.168 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741295 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01928.hp2 HG02165.hp2 others(2): Show |
a0001a0003a0009 | a0001c0001a0001c0091a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0091t0002others(2): Show | a0001c0001t0001g0137 a0001c0001t0002g0059 a0001c0091t0002g0021 others(2): Show |
5 | 316 | 0.0158 | 20 | c.168 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741303 | T | TTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02132.hp1 HG02293.hp2 others(2): Show |
a0001a0003a0006others(1): Show | a0001c0005a0003c0004a0006c0019others(1): Show | a0001c0005t0001a0003c0004t0001a0006c0019t0003others(1): Show | a0001c0005t0001g0083 a0001c0005t0001g0136 a0003c0004t0001g0149 others(2): Show |
5 | 316 | 0.0158 | 20 | c.168 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0127 | a0001c0127t0002 | a0001c0127t0002g0082 | 1 | 316 | 0.0032 | 20 | c.168 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02738.hp1 HG03831.hp1 others(7): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0006a0002c0007others(7): Show | a0001c0001t0002a0001c0006t0001a0002c0007t0002others(7): Show | a0001c0001t0002g0044 a0001c0006t0001g0091 a0002c0007t0002g0018 others(7): Show |
10 | 316 | 0.0317 | 20 | c.168 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01952.hp2 others(1): Show |
a0002a0038a0049 | a0002c0007a0038c0080a0049c0116 | a0002c0007t0001a0038c0080t0002a0049c0116t0001 | a0002c0007t0001g0166 a0002c0007t0001g0167 a0038c0080t0002g0017 others(1): Show |
4 | 316 | 0.0127 | 20 | c.168 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02040.hp1 HG02615.hp2 others(1): Show |
a0002a0004a0029others(1): Show | a0002c0003a0004c0008a0029c0083others(1): Show | a0002c0003t0001a0004c0008t0004a0029c0083t0001others(1): Show | a0002c0003t0001g0130 a0004c0008t0004g0198 a0029c0083t0001g0151 others(1): Show |
4 | 316 | 0.0127 | 20 | c.168 others(37): 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(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01192.hp2 others(23): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0021a0001c0028others(20): Show | a0001c0001t0002a0001c0021t0001a0001c0028t0004others(20): Show | a0001c0001t0002g0080 a0001c0021t0001g0236 a0001c0028t0004g0233 others(23): Show |
26 | 316 | 0.0823 | 20 | c.190 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7752195 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0005 | a0005c0020 | a0005c0020t0005 | a0005c0020t0005g0069 | 1 | 316 | 0.0032 | 20 | c.190 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7815541 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0244 | 1 | 316 | 0.0032 | 20 | c.973 others(38): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 63/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7834636 | G | GGGCGCGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02040.hp1 NA18946.hp1 others(1): Show |
a0002a0018 | a0002c0003a0002c0007a0018c0035 | a0002c0003t0001a0002c0003t0003a0002c0007t0001others(1): Show | a0002c0003t0001g0130 a0002c0003t0003g0310 a0002c0007t0001g0139 others(1): Show |
4 | 316 | 0.0127 | 20 | c.*11 others(31): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 895 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7834636 | G | GGGCGGGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp1 others(33): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(18): Show | a0001c0001t0001g0137 a0001c0001t0001g0226 a0001c0001t0002g0053 others(33): Show |
36 | 316 | 0.1139 | 20 | c.*11 others(31): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 895 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20984029 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0049 | 1 | 234 | 0.0043 | 20 | c.755 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 48/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03490.hp1 HG03492.hp2 others(1): Show |
a0001a0004a0007 | a0001c0002a0001c0026a0004c0027others(1): Show | a0001c0002t0001a0001c0026t0001a0004c0027t0001others(1): Show | a0001c0002t0001g0202 a0001c0026t0001g0119 a0004c0027t0001g0206 others(1): Show |
4 | 234 | 0.0171 | 20 | c.563 others(37): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0003 | a0003c0043 | a0003c0043t0003 | a0003c0043t0003g0002 | 1 | 234 | 0.0043 | 20 | c.563 others(37): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0037 | a0037c0077 | a0037c0077t0001 | a0037c0077t0001g0230 | 1 | 234 | 0.0043 | 20 | c.563 others(37): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19080.hp2 |
a0004 | a0004c0007a0004c0081 | a0004c0007t0002a0004c0081t0001 | a0004c0007t0002g0015 a0004c0081t0001g0219 |
2 | 234 | 0.0086 | 20 | c.563 others(37): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18973.hp1 NA19002.hp1 others(3): Show |
a0004a0051 | a0004c0007a0051c0080 | a0004c0007t0001a0051c0080t0001 | a0004c0007t0001g0169 a0004c0007t0001g0170 a0004c0007t0001g0175 others(3): Show |
6 | 234 | 0.0256 | 20 | c.563 others(37): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 HG04184.hp1 |
a0003a0041 | a0003c0043a0041c0046 | a0003c0043t0003a0041c0046t0001 | a0003c0043t0003g0002 a0041c0046t0001g0087 |
2 | 234 | 0.0086 | 20 | c.563 others(37): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21023784 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0005 | a0005c0032 | a0005c0032t0001 | a0005c0032t0001g0078 | 1 | 234 | 0.0043 | 20 | c.550 others(37): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 39/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13713434 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0128 | a0001c0128t0005 | a0001c0128t0005g0012 | 1 | 252 | 0.0040 | 20 | c.131 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar |