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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACTATAT others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0008 | a0008c0008a0008c0016 | a0008c0008t0002a0008c0016t0001 | a0008c0008t0002g0081 a0008c0016t0001g0045 |
2 | 266 | 0.0075 | 24 | c.936 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0243 | 1 | 266 | 0.0038 | 24 | c.730 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 266 | 0.0038 | 24 | c.730 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18992.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0224 a0005c0005t0001g0227 |
2 | 266 | 0.0075 | 24 | c.730 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02083.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0229 a0005c0005t0001g0233 |
2 | 266 | 0.0075 | 24 | c.730 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57422588 | A | AGGACCAG others(17): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0069 | a0069c0091 | a0069c0091t0001 | a0069c0091t0001g0182 | 1 | 266 | 0.0038 | 24 | c.537 others(41): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 35/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0255 |
2 | 266 | 0.0075 | 24 | c.133 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 a0001c0001t0001g0235 |
2 | 266 | 0.0075 | 24 | c.133 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0085 | a0001c0085t0001 | a0001c0085t0001g0249 | 1 | 266 | 0.0038 | 24 | c.133 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0048 | 1 | 266 | 0.0038 | 24 | c.133 others(43): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03704.hp1 NA18950.hp2 |
a0005a0019a0044 | a0005c0004a0019c0014a0044c0067 | a0005c0004t0001a0019c0014t0001a0044c0067t0001 | a0005c0004t0001g0049 a0019c0014t0001g0081 a0044c0067t0001g0055 |
3 | 240 | 0.0125 | 24 | c.135 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225075989 | C | CTGCGGCC others(17): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03834.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0150 a0004c0005t0001g0238 |
2 | 240 | 0.0083 | 24 | c.242 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | chr1 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225335545 | G | GTATATAC others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02818.hp1 others(2): Show |
a0005a0071a0073 | a0005c0004a0005c0084a0071c0077others(1): Show | a0005c0004t0001a0005c0084t0001a0071c0077t0001others(1): Show | a0005c0004t0001g0053 a0005c0004t0001g0054 a0005c0084t0001g0023 others(2): Show |
5 | 240 | 0.0208 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335545 | G | GTATGTAC others(17): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01496.hp2 others(12): Show |
a0003a0005a0012others(3): Show | a0003c0003a0003c0073a0005c0004others(4): Show | a0003c0003t0001a0003c0073t0001a0005c0004t0001others(4): Show | a0003c0003t0001g0041 a0003c0003t0001g0048 a0003c0003t0001g0052 others(12): Show |
15 | 240 | 0.0625 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335767 | G | GCATATAT others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18974.hp2 NA19091.hp1 |
a0006a0100a0111 | a0006c0006a0100c0094a0111c0044 | a0006c0006t0001a0100c0094t0001a0111c0044t0001 | a0006c0006t0001g0137 a0100c0094t0001g0188 a0111c0044t0001g0058 |
3 | 240 | 0.0125 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335800 | T | TATATGTA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0043 | a0043c0119 | a0043c0119t0001 | a0043c0119t0001g0192 | 1 | 240 | 0.0042 | 24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335874 | T | TATGTACA others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0077 | a0077c0039 | a0077c0039t0001 | a0077c0039t0001g0103 | 1 | 240 | 0.0042 | 24 | c.100 others(45): 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(17): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18612.hp1 NA18951.hp2 others(5): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0008a0003c0003others(3): Show | a0001c0001t0001a0001c0008t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0164 a0001c0001t0001g0182 a0001c0008t0001g0152 others(5): Show |
8 | 240 | 0.0333 | 24 | c.123 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78433923 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(63): Show |
a0001a0002a0003others(40): Show | a0001c0001a0001c0002a0001c0017others(60): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(61): Show | a0001c0001t0001g0178 a0001c0001t0001g0236 a0001c0001t0003g0249 others(63): Show |
66 | 252 | 0.2619 | 24 | c.122 others(42): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03540.hp1 |
a0113a0120 | a0113c0071a0120c0095 | a0113c0071t0001a0120c0095t0001 | a0113c0071t0001g0005 a0120c0095t0001g0084 |
2 | 252 | 0.0079 | 24 | c.239 others(41): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7725425 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02004.hp1 HG02148.hp2 |
a0001a0004a0045 | a0001c0002a0004c0045a0045c0088 | a0001c0002t0004a0004c0045t0001a0045c0088t0004 | a0001c0002t0004g0193 a0004c0045t0001g0206 a0045c0088t0004g0199 |
3 | 316 | 0.0095 | 24 | c.229 others(41): 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(17): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0007 | a0007c0142 | a0007c0142t0001 | a0007c0142t0001g0218 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0006 | a0006c0019 | a0006c0019t0003 | a0006c0019t0003g0313 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0028 | a0001c0028t0004 | a0001c0028t0004g0233 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18960.hp1 NA19057.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0147 a0003c0004t0001g0209 a0003c0004t0001g0210 |
3 | 316 | 0.0095 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18943.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0125 a0003c0004t0001g0146 |
2 | 316 | 0.0063 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0004 | a0004c0025 | a0004c0025t0001 | a0004c0025t0001g0116 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 |
a0003a0014 | a0003c0004a0014c0041 | a0003c0004t0003a0014c0041t0002 | a0003c0004t0003g0278 a0014c0041t0002g0081 |
2 | 316 | 0.0063 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18956.hp1 |
a0001a0063 | a0001c0001a0063c0092 | a0001c0001t0002a0063c0092t0002 | a0001c0001t0002g0048 a0063c0092t0002g0006 |
2 | 316 | 0.0063 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 |
a0001a0004 | a0001c0064a0004c0025 | a0001c0064t0001a0004c0025t0002 | a0001c0064t0001g0249 a0004c0025t0002g0019 |
2 | 316 | 0.0063 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0153 | 1 | 316 | 0.0032 | 24 | c.168 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02647.hp2 HG04115.hp1 NA18612.hp1 others(4): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0007a0005c0020others(4): Show | a0001c0001t0002a0002c0007t0001a0005c0020t0002others(4): Show | a0001c0001t0002g0038 a0002c0007t0001g0139 a0005c0020t0002g0039 others(4): Show |
7 | 316 | 0.0222 | 24 | c.190 others(43): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20980241 | A | ATATAATA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0020 | a0020c0083 | a0020c0083t0001 | a0020c0083t0001g0178 | 1 | 234 | 0.0043 | 24 | c.772 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0015 | a0015c0023 | a0015c0023t0001 | a0015c0023t0001g0146 | 1 | 234 | 0.0043 | 24 | c.563 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(7): Show |
a0001a0003a0034 | a0001c0002a0003c0005a0034c0074 | a0001c0002t0001a0003c0005t0001a0034c0074t0001 | a0001c0002t0001g0172 a0001c0002t0001g0192 a0001c0002t0001g0193 others(7): Show |
10 | 234 | 0.0427 | 24 | c.563 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0003 | 1 | 234 | 0.0043 | 24 | c.563 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21023784 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0151 | 1 | 234 | 0.0043 | 24 | c.550 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 39/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18962.hp2 NA19002.hp2 others(2): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0001a0002c0006t0001 | a0002c0004t0001g0174 a0002c0006t0001g0064 a0002c0006t0001g0066 others(2): Show |
5 | 234 | 0.0214 | 24 | c.324 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21072828 | T | TTATTATT others(17): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0119 | 1 | 234 | 0.0043 | 24 | c.294 others(43): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 21/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778539 | G | GAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02300.hp2 HG02896.hp2 |
a0011a0017a0097 | a0011c0003a0017c0019a0097c0064 | a0011c0003t0001a0017c0019t0001a0097c0064t0001 | a0011c0003t0001g0111 a0017c0019t0001g0067 a0097c0064t0001g0021 |
3 | 252 | 0.0119 | 24 | c.895 others(43): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0105 | a0105c0134 | a0105c0134t0007 | a0105c0134t0007g0010 | 1 | 252 | 0.0040 | 24 | c.895 others(43): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842423 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0197 | 1 | 252 | 0.0040 | 24 | c.527 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03486.hp1 NA18522.hp1 |
a0010a0110a0123 | a0010c0132a0110c0204a0123c0125 | a0010c0132t0005a0110c0204t0002a0123c0125t0005 | a0010c0132t0005g0011 a0110c0204t0002g0230 a0123c0125t0005g0009 |
3 | 252 | 0.0119 | 24 | c.527 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13862860 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 NA18522.hp1 |
a0049a0123 | a0049c0042a0123c0125 | a0049c0042t0001a0123c0125t0005 | a0049c0042t0001g0069 a0123c0125t0005g0009 |
2 | 252 | 0.0079 | 24 | c.459 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 28/78 | chr5 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84514867 | T | TCACACAC others(17): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0008 | a0008c0018 | a0008c0018t0002 | a0008c0018t0002g0104 | 1 | 116 | 0.0086 | 24 | c.-17 others(35): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 1630 | chr2 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84598127 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0040 | a0003c0040t0001 | a0003c0040t0001g0070 | 1 | 116 | 0.0086 | 24 | c.286 others(43): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84598188 | T | TTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02886.hp1 HG03041.hp2 |
a0001a0011 | a0001c0034a0001c0036a0011c0016 | a0001c0034t0004a0001c0036t0003a0011c0016t0001 | a0001c0034t0004g0047 a0001c0036t0003g0060 a0011c0016t0001g0084 |
3 | 116 | 0.0259 | 24 | c.286 others(43): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03704.hp2 NA18998.hp1 others(3): Show |
a0001a0015 | a0001c0001a0015c0014 | a0001c0001t0002a0015c0014t0002 | a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0001t0002g0197 others(3): Show |
6 | 256 | 0.0234 | 24 | c.114 others(45): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195778677 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01257.hp1 HG01261.hp2 others(7): Show |
a0005a0007a0014others(2): Show | a0005c0005a0007c0008a0014c0016others(2): Show | a0005c0005t0007a0007c0008t0001a0014c0016t0001others(2): Show | a0005c0005t0007g0008 a0005c0005t0007g0009 a0005c0005t0007g0010 others(7): Show |
10 | 256 | 0.0391 | 24 | c.108 others(43): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01981.hp2 others(8): Show |
a0001a0035 | a0001c0001a0001c0006a0035c0043 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0233 a0001c0001t0002g0161 a0001c0001t0002g0162 others(8): Show |
11 | 256 | 0.0430 | 24 | c.183 others(43): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar |