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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMP1_chr4_87645280_87669357 | 87661204 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(135): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0015 | a0001c0003t0002a0002c0001t0001a0002c0001t0010others(3): Show | a0001c0003t0002g0031a0002c0001t0001g0001a0002c0001t0001g0002others(48): Show | 138 | 430 | 0.3209 | -17 | c.184 others(32): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMRTA2_chr1_50412550_50428443 | 50420539 | GAACCTAG others(10): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03471.hp2 HG03654.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0005 | a0001c0001t0001g0031a0001c0001t0003g0030a0001c0004t0005g0018others(1): Show | 6 | 310 | 0.0194 | -17 | c.559 others(32): Show |
DMRTA2 | ENSG00000142700.12 | transcript | ENST00000404795.4 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843061 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 402 | 0.0025 | -17 | c.-20 others(28): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1980 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843062 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01069.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0053a0001c0001t0006g0032a0001c0002t0001g0002others(10): Show | 49 | 402 | 0.1219 | -17 | c.-20 others(28): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1979 | chr19 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22073640 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02895.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0011 | a0001c0001t0004g0051a0001c0001t0010g0057a0001c0001t0010g0115others(2): Show | 5 | 324 | 0.0154 | -17 | c.730 others(30): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG01891.hp2 others(3): Show |
a0001a0005a0007 | a0001c0001a0001c0026a0005c0014others(1): Show | a0001c0001t0001a0001c0026t0001a0005c0014t0005others(1): Show | a0001c0001t0001g0160a0001c0026t0001g0192a0005c0014t0005g0033others(3): Show | 6 | 238 | 0.0252 | -17 | c.88- others(32): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119161391 | AGTTGGGC others(10): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG02738.hp2 HG03927.hp2 others(2): Show |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0185a0004c0007t0001g0186a0004c0007t0001g0187others(2): Show | 5 | 238 | 0.0210 | -17 | c.470 others(36): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 19/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51583106 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0282 | 1 | 346 | 0.0029 | -17 | c.88- others(32): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51605517 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 346 | 0.0029 | -17 | c.87+ others(34): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68449825 | ATCGCTTG others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(44): Show |
a0001 | a0001c0003a0001c0006a0001c0015others(2): Show | a0001c0003t0003a0001c0003t0009a0001c0006t0004others(3): Show | a0001c0003t0003g0001a0001c0003t0003g0002a0001c0003t0003g0045others(42): Show | 47 | 326 | 0.1442 | -17 | c.939 others(32): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 6/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68474590 | CAGCCCAT others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 326 | 0.0031 | -17 | c.-27 others(28): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 2618 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68134188 | CTGTGATG others(10): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 432 | 0.0023 | -17 | c.866 others(32): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 7/7 | chr2 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 726061 | TAGCCAGT others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0016others(26): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(331): Show | 369 | 378 | 0.9762 | -17 | c.-65 others(26): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 637 | chr7 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107229822 | GGACTACA others(10): Show |
G | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 296 | 0.0034 | -17 | c.429 others(34): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3288672 | AGGATGCC others(10): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02080.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0003a0001c0020 | a0001c0003t0006a0001c0003t0013a0001c0020t0024 | a0001c0003t0006g0008a0001c0003t0006g0009a0001c0003t0006g0348others(7): Show | 10 | 362 | 0.0276 | -17 | c.232 others(34): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 26/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310344 | AGAAAGAA others(10): Show |
A | intron_variant | MODIFIER | NA18944.hp1 NA18981.hp1 NA19012.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0008a0001c0006t0025 | a0001c0006t0008g0352a0001c0006t0008g0353a0001c0006t0008g0354others(2): Show | 5 | 362 | 0.0138 | -17 | c.167 others(36): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3394942 | CTTTTTTC others(10): Show |
C | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0022 | 1 | 362 | 0.0028 | -17 | c.84- others(34): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123792451 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(71): Show |
a0001a0003a0004others(24): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(32): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0026others(71): Show | 74 | 170 | 0.4353 | -17 | c.181 others(36): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 11/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123888326 | GCCCTCTA others(10): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0030 | a0030c0035 | a0030c0035t0002 | a0030c0035t0002g0148 | 1 | 170 | 0.0059 | -17 | c.899 others(36): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 52/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123910297 | TCCTGTGT others(10): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 170 | 0.0059 | -17 | c.999 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 58/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911655 | TGGGGGGG others(10): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0135 | 1 | 170 | 0.0059 | -17 | c.101 others(38): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911987 | TGGGGGGG others(10): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0042 | a0042c0045 | a0042c0045t0002 | a0042c0045t0002g0111 | 1 | 170 | 0.0059 | -17 | c.101 others(38): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123921691 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01071.hp2 others(50): Show |
a0001a0002a0004others(20): Show | a0001c0001a0001c0041a0001c0058others(29): Show | a0001c0001t0001a0001c0041t0001a0001c0058t0001others(29): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0026others(50): Show | 53 | 170 | 0.3118 | -17 | c.115 others(38): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 65/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21696729 | AACCATGA others(10): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 |
a0138a0202 | a0138c0135a0202c0241 | a0138c0135t0003a0202c0241t0001 | a0138c0135t0003g0007a0202c0241t0001g0194 | 2 | 298 | 0.0067 | -17 | c.604 others(36): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 35/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21711121 | GCTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0019 | a0019c0003 | a0019c0003t0001 | a0019c0003t0001g0270a0019c0003t0001g0271 | 2 | 298 | 0.0067 | -17 | c.683 others(34): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 41/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21825290 | TTACTGAA others(10): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0170 | a0170c0190 | a0170c0190t0026 | a0170c0190t0026g0219 | 1 | 298 | 0.0034 | -17 | c.106 others(38): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 65/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21855506 | CTATTACA others(10): Show |
C | intron_variant | MODIFIER | NA18961.hp2 | a0149 | a0149c0128 | a0149c0128t0002 | a0149c0128t0002g0040 | 1 | 298 | 0.0034 | -17 | c.112 others(38): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 68/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21877874 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0190 | a0190c0205 | a0190c0205t0001 | a0190c0205t0001g0229 | 1 | 298 | 0.0034 | -17 | c.121 others(38): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 74/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21902160 | TCTTTGTA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0023 | a0023c0015 | a0023c0015t0015 | a0023c0015t0015g0082a0023c0015t0015g0083 | 2 | 298 | 0.0067 | -17 | c.*90 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 322 | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499644 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0035 | a0035c0045 | a0035c0045t0002 | a0035c0045t0002g0012 | 1 | 266 | 0.0038 | -17 | c.133 others(36): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02717.hp1 others(6): Show |
a0012a0013a0020others(1): Show | a0012c0010a0013c0009a0020c0019others(1): Show | a0012c0010t0002a0013c0009t0001a0020c0019t0001others(1): Show | a0012c0010t0002g0253a0012c0010t0002g0259a0012c0010t0002g0260others(6): Show | 9 | 266 | 0.0338 | -17 | c.279 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078824 | CCCTCTCT others(10): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0050 | a0050c0069 | a0050c0069t0001 | a0050c0069t0001g0057 | 1 | 240 | 0.0042 | -17 | c.242 others(34): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78422790 | CTTTGAAG others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01952.hp2 |
a0009 | a0009c0140a0009c0144 | a0009c0140t0001a0009c0144t0001 | a0009c0140t0001g0071a0009c0144t0001g0093 | 2 | 252 | 0.0079 | -17 | c.*10 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 906 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp1 NA18964.hp2 |
a0093a0143 | a0093c0181a0143c0015 | a0093c0181t0001a0143c0015t0002 | a0093c0181t0001g0234a0143c0015t0002g0077 | 2 | 252 | 0.0079 | -17 | c.775 others(34): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78540751 | GTGGGTGG others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00733.hp2 others(23): Show |
a0007a0020a0030others(17): Show | a0007c0004a0007c0150a0007c0151others(20): Show | a0007c0004t0001a0007c0150t0001a0007c0151t0001others(20): Show | a0007c0004t0001g0185a0007c0004t0001g0203a0007c0004t0001g0204others(23): Show | 26 | 252 | 0.1032 | -17 | c.253 others(34): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78554436 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0071 | a0071c0216 | a0071c0216t0001 | a0071c0216t0001g0124 | 1 | 252 | 0.0040 | -17 | c.217 others(36): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7760939 | GGTGAGGG others(10): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0279 | 1 | 316 | 0.0032 | -17 | c.297 others(32): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 18/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20957808 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0137 | 1 | 234 | 0.0043 | -17 | c.106 others(38): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84553360 | TTTTCTTT others(10): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01109.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0010others(8): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(8): Show | a0001c0001t0001g0058a0001c0001t0001g0073a0001c0001t0001g0085others(18): Show | 21 | 116 | 0.1810 | -17 | c.160 others(34): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84720267 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 HG02976.hp1 others(3): Show |
a0007a0013 | a0007c0009a0007c0047a0013c0027 | a0007c0009t0001a0007c0047t0001a0013c0027t0001 | a0007c0009t0001g0034a0007c0009t0001g0035a0007c0009t0001g0037others(3): Show | 6 | 116 | 0.0517 | -17 | c.979 others(36): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 59/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38835861 | ATTTTTAA others(10): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02080.hp2 HG02135.hp1 others(17): Show |
a0005a0017a0024others(1): Show | a0005c0003a0005c0024a0005c0106others(3): Show | a0005c0003t0001a0005c0003t0002a0005c0024t0001others(5): Show | a0005c0003t0001g0014a0005c0003t0002g0034a0005c0003t0002g0041others(17): Show | 20 | 284 | 0.0704 | -17 | c.436 others(36): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 32/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874033 | TTTTCTTT others(10): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 |
a0027 | a0027c0028 | a0027c0028t0001 | a0027c0028t0001g0231a0027c0028t0001g0268 | 2 | 284 | 0.0070 | -17 | c.762 others(34): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38903409 | AACTCAGA others(10): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0032 | a0032c0046 | a0032c0046t0001 | a0032c0046t0001g0048 | 1 | 284 | 0.0035 | -17 | c.919 others(36): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 62/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38963253 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00609.hp2 others(47): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0007a0001c0035others(27): Show | a0001c0001t0001a0001c0007t0001a0001c0035t0001others(27): Show | a0001c0001t0001g0260a0001c0007t0001g0073a0001c0007t0001g0117others(47): Show | 50 | 284 | 0.1761 | -17 | c.124 others(38): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11749063 | GGTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02040.hp1 HG02055.hp2 others(1): Show |
a0003a0015a0051 | a0003c0140a0015c0077a0015c0136others(1): Show | a0003c0140t0001a0015c0077t0001a0015c0136t0001others(1): Show | a0003c0140t0001g0051a0015c0077t0001g0128a0015c0136t0001g0125others(1): Show | 4 | 178 | 0.0225 | -17 | c.661 others(36): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 32/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11762758 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 178 | 0.0056 | -17 | c.699 others(34): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 35/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11778329 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02572.hp1 others(9): Show |
a0001a0004a0006others(6): Show | a0001c0024a0001c0127a0004c0121others(9): Show | a0001c0024t0001a0001c0127t0001a0004c0121t0001others(9): Show | a0001c0024t0001g0006a0001c0127t0001g0052a0004c0121t0001g0114others(9): Show | 12 | 178 | 0.0674 | -17 | c.755 others(36): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 38/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11805523 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0073 | a0073c0090 | a0073c0090t0001 | a0073c0090t0001g0070 | 1 | 178 | 0.0056 | -17 | c.842 others(36): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 43/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11811989 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02630.hp1 HG04115.hp2 others(3): Show |
a0002a0003a0013others(1): Show | a0002c0009a0002c0010a0002c0015others(3): Show | a0002c0009t0001a0002c0010t0001a0002c0015t0001others(3): Show | a0002c0009t0001g0119a0002c0010t0001g0059a0002c0015t0001g0055others(3): Show | 6 | 178 | 0.0337 | -17 | c.870 others(36): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11812011 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0025 | a0025c0032 | a0025c0032t0001 | a0025c0032t0001g0100 | 1 | 178 | 0.0056 | -17 | c.870 others(36): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |