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 | 57390424 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 a0001c0001t0001g0246 |
2 | 83 | 0.0241 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0065 | a0065c0095 | a0065c0095t0001 | a0065c0095t0001g0251 | 1 | 82 | 0.0122 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0081 | 1 | 59 | 0.0169 | 28 | c.133 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0181 | 1 | 59 | 0.0169 | 28 | c.133 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18962.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0197 a0005c0005t0001g0240 |
2 | 60 | 0.0333 | 28 | c.133 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0016 | a0016c0018 | a0016c0018t0001 | a0016c0018t0001g0058 | 1 | 59 | 0.0169 | 28 | c.133 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225176561 | G | GTATGTAA others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(52): Show |
a0001a0009a0010others(14): Show | a0001c0001a0001c0008a0009c0011others(16): Show | a0001c0001t0001a0001c0008t0001a0009c0011t0001others(16): Show | a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 others(52): Show |
55 | 238 | 0.2311 | 28 | c.553 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 36/85 | chr1 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225335437 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG02132.hp1 others(9): Show |
a0003a0014a0036others(3): Show | a0003c0003a0003c0026a0014c0017others(4): Show | a0003c0003t0001a0003c0026t0001a0014c0017t0001others(4): Show | a0003c0003t0001g0037 a0003c0003t0001g0058 a0003c0003t0001g0070 others(9): Show |
12 | 168 | 0.0714 | 28 | c.100 others(49): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335551 | A | ACATATAT others(21): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0087 | a0087c0118 | a0087c0118t0001 | a0087c0118t0001g0091 | 1 | 165 | 0.0061 | 28 | c.100 others(49): 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(21): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18950.hp2 NA18984.hp2 |
a0005a0012a0097 | a0005c0004a0012c0073a0097c0053 | a0005c0004t0001a0012c0073t0001a0097c0053t0001 | a0005c0004t0001g0051 a0012c0073t0001g0046 a0097c0053t0001g0230 |
3 | 17 | 0.1765 | 28 | c.123 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0053 | a0005c0053t0001 | a0005c0053t0001g0176 | 1 | 71 | 0.0141 | 28 | c.122 others(47): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78472244 | A | AGGGGTGC others(21): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0142 | a0142c0093 | a0142c0093t0001 | a0142c0093t0001g0089 | 1 | 250 | 0.0040 | 28 | c.851 others(47): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 54/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78472272 | A | AGGGGTGC others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(46): Show |
a0001a0003a0004others(24): Show | a0001c0001a0001c0008a0001c0064others(36): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(37): Show | a0001c0001t0001g0058 a0001c0001t0001g0159 a0001c0001t0001g0178 others(46): Show |
49 | 195 | 0.2513 | 28 | c.851 others(47): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 54/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78543287 | G | GTATTTTT others(21): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0086 | a0086c0075 | a0086c0075t0001 | a0086c0075t0001g0011 | 1 | 155 | 0.0065 | 28 | c.253 others(45): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0089 | a0089c0084 | a0089c0084t0001 | a0089c0084t0001g0177 | 1 | 49 | 0.0204 | 28 | c.239 others(45): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7725425 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02559.hp2 HG03195.hp2 others(1): Show |
a0001a0045 | a0001c0006a0001c0046a0001c0063others(1): Show | a0001c0006t0001a0001c0046t0004a0001c0063t0001others(1): Show | a0001c0006t0001g0091 a0001c0046t0004g0230 a0001c0063t0001g0249 others(1): Show |
4 | 117 | 0.0342 | 28 | c.229 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741295 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0008 | a0008c0026 | a0008c0026t0002 | a0008c0026t0002g0008 | 1 | 228 | 0.0044 | 28 | c.168 others(45): 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(21): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0047 | a0047c0125 | a0047c0125t0003 | a0047c0125t0003g0294 | 1 | 228 | 0.0044 | 28 | c.168 others(45): 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(21): Show |
intron_variant | MODIFIER | NA19062.hp2 NA19091.hp2 |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0135 a0009c0012t0001g0140 |
2 | 229 | 0.0087 | 28 | c.168 others(45): 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(21): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0008 | a0008c0026 | a0008c0026t0002 | a0008c0026t0002g0058 | 1 | 92 | 0.0109 | 28 | c.168 others(45): 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(21): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0025 | a0025c0034 | a0025c0034t0002 | a0025c0034t0002g0005 | 1 | 92 | 0.0109 | 28 | c.168 others(45): 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(21): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0157 | 1 | 92 | 0.0109 | 28 | c.168 others(45): 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(21): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0051 | a0051c0070 | a0051c0070t0001 | a0051c0070t0001g0250 | 1 | 92 | 0.0109 | 28 | c.168 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838420 | A | AGGCAGAG others(21): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0006 | a0006c0041 | a0006c0041t0001 | a0006c0041t0001g0101 | 1 | 313 | 0.0032 | 28 | c.*48 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4679 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG02717.hp1 others(3): Show |
a0001a0006a0010 | a0001c0002a0001c0066a0001c0074others(2): Show | a0001c0002t0001a0001c0066t0001a0001c0074t0001others(2): Show | a0001c0002t0001g0149 a0001c0002t0001g0195 a0001c0066t0001g0227 others(3): Show |
6 | 62 | 0.0968 | 28 | c.563 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02735.hp1 NA19010.hp1 |
a0002a0033 | a0002c0004a0002c0006a0033c0040 | a0002c0004t0002a0002c0006t0001a0033c0040t0001 | a0002c0004t0002g0016 a0002c0006t0001g0113 a0033c0040t0001g0110 |
3 | 59 | 0.0508 | 28 | c.563 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0100 | 1 | 116 | 0.0086 | 28 | c.563 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 NA18950.hp2 NA18989.hp2 others(1): Show |
a0002a0004a0054 | a0002c0004a0002c0006a0004c0098others(1): Show | a0002c0004t0001a0002c0006t0001a0004c0098t0001others(1): Show | a0002c0004t0001g0030 a0002c0006t0001g0071 a0004c0098t0001g0061 others(1): Show |
4 | 38 | 0.1053 | 28 | c.324 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13713438 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0015 | a0015c0002 | a0015c0002t0019 | a0015c0002t0019g0228 | 1 | 247 | 0.0040 | 28 | c.131 others(47): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01361.hp1 others(2): Show |
a0003a0020a0025others(2): Show | a0003c0121a0020c0018a0025c0111others(2): Show | a0003c0121t0001a0020c0018t0003a0025c0111t0007others(2): Show | a0003c0121t0001g0093 a0020c0018t0003g0246 a0025c0111t0007g0008 others(2): Show |
5 | 157 | 0.0318 | 28 | c.527 others(45): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842437 | A | AAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02486.hp2 HG03453.hp1 |
a0007a0024a0051 | a0007c0068a0024c0147a0051c0062 | a0007c0068t0001a0024c0147t0006a0051c0062t0002 | a0007c0068t0001g0156 a0024c0147t0006g0188 a0051c0062t0002g0017 |
3 | 163 | 0.0184 | 28 | c.527 others(45): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842437 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0089 | a0089c0103 | a0089c0103t0002 | a0089c0103t0002g0145 | 1 | 161 | 0.0062 | 28 | c.527 others(45): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84598188 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0016 | a0016c0039 | a0016c0039t0001 | a0016c0039t0001g0089 | 1 | 67 | 0.0149 | 28 | c.286 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03209.hp2 NA18955.hp1 others(2): Show |
a0001a0010a0015others(1): Show | a0001c0001a0001c0048a0010c0009others(2): Show | a0001c0001t0002a0001c0048t0002a0010c0009t0002others(2): Show | a0001c0001t0002g0175 a0001c0048t0002g0193 a0010c0009t0002g0038 others(2): Show |
5 | 69 | 0.0725 | 28 | c.114 others(49): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195778677 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02976.hp1 HG03139.hp2 others(3): Show |
a0006a0008a0050 | a0006c0007a0006c0062a0008c0010others(1): Show | a0006c0007t0006a0006c0062t0005a0008c0010t0005others(1): Show | a0006c0007t0006g0253 a0006c0007t0006g0254 a0006c0007t0006g0255 others(3): Show |
6 | 199 | 0.0302 | 28 | c.108 others(47): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195778733 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
a0001a0006a0007others(1): Show | a0001c0001a0006c0007a0007c0008others(1): Show | a0001c0001t0002a0006c0007t0006a0007c0008t0001others(1): Show | a0001c0001t0002g0164 a0006c0007t0006g0242 a0007c0008t0001g0110 others(5): Show |
8 | 82 | 0.0976 | 28 | c.108 others(47): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195847111 | G | GGATATCG others(21): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0223 | 1 | 254 | 0.0039 | 28 | c.878 others(47): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 46/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19088.hp2 |
a0008a0011 | a0008c0021a0011c0015 | a0008c0021t0001a0011c0015t0002 | a0008c0021t0001g0210 a0011c0015t0002g0192 |
2 | 13 | 0.1538 | 28 | c.183 others(47): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0023 | a0023c0037 | a0023c0037t0001 | a0023c0037t0001g0056 | 1 | 101 | 0.0099 | 28 | c.-35 others(43): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11694826 | T | TTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0077 | a0077c0032 | a0077c0032t0001 | a0077c0032t0001g0100 | 1 | 131 | 0.0076 | 28 | c.487 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11812026 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0120 | a0004c0120t0001 | a0004c0120t0001g0178 | 1 | 103 | 0.0097 | 28 | c.870 others(47): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0005 | a0005c0108 | a0005c0108t0001 | a0005c0108t0001g0030 | 1 | 5 | 0.2000 | 28 | c.950 others(47): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0053 | a0001c0053t0003 | a0001c0053t0003g0021 | 1 | 5 | 0.2000 | 28 | c.950 others(47): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0074 | a0074c0022 | a0074c0022t0001 | a0074c0022t0001g0002 | 1 | 5 | 0.2000 | 28 | c.950 others(47): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11926035 | G | GAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0042 | a0042c0088 | a0042c0088t0001 | a0042c0088t0001g0165 | 1 | 26 | 0.0385 | 28 | c.118 others(49): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 62/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11960435 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 61 | 0.0164 | 28 | c.128 others(49): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 67/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 23 | 0.0435 | 28 | c.682 others(43): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAI3_chr1_85057327_85138138 | 85110450 | C | CAAATAAA others(21): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 19 | 0.0526 | 28 | c.178 others(45): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66893071 | A | AAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0118 a0002c0004t0001g0034 |
2 | 256 | 0.0078 | 28 | c.530 others(43): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(21): Show |
splice_region_variant others(1): Show |
LOW | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 2 | 0.5000 | 28 | c.189 others(41): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar |