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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH14_chr1_224924675_225404286 | 225344691 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03471.hp1 HG03669.hp2 others(1): Show |
a0006a0015a0020others(1): Show | a0006c0006a0015c0012a0020c0019others(1): Show | a0006c0006t0001a0015c0012t0001a0020c0019t0001others(1): Show | a0006c0006t0001g0138 a0015c0012t0001g0002 a0020c0019t0001g0102 others(1): Show |
4 | 240 | 0.0167 | 8 | c.106 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 69/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225344696 | T | TTTATTTA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp2 HG01515.hp2 others(12): Show |
a0001a0006a0011others(5): Show | a0001c0001a0006c0006a0011c0011others(5): Show | a0001c0001t0001a0006c0006t0001a0011c0011t0001others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0001g0147 others(12): Show |
15 | 240 | 0.0625 | 8 | c.106 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 69/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225373172 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG02055.hp2 others(5): Show |
a0006a0011a0030others(4): Show | a0006c0006a0011c0011a0030c0028others(4): Show | a0006c0006t0001a0011c0011t0001a0030c0028t0001others(4): Show | a0006c0006t0001g0136 a0011c0011t0001g0180 a0011c0011t0001g0181 others(5): Show |
8 | 240 | 0.0333 | 8 | c.123 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02723.hp1 HG02886.hp2 others(2): Show |
a0011a0066a0067others(2): Show | a0011c0011a0066c0053a0067c0061others(2): Show | a0011c0011t0001a0066c0053t0001a0067c0061t0001others(2): Show | a0011c0011t0001g0179 a0066c0053t0001g0007 a0067c0061t0001g0024 others(2): Show |
5 | 240 | 0.0208 | 8 | c.123 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78433955 | G | GGGAGGGA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02922.hp1 others(1): Show |
a0046a0092a0106others(1): Show | a0046c0116a0092c0092a0106c0205others(1): Show | a0046c0116t0001a0092c0092t0001a0106c0205t0001others(1): Show | a0046c0116t0001g0075 a0092c0092t0001g0134 a0106c0205t0001g0145 others(1): Show |
4 | 252 | 0.0159 | 8 | c.122 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540958 | A | AGTGGATG others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02886.hp1 |
a0003a0011a0086 | a0003c0044a0011c0207a0086c0045 | a0003c0044t0001a0011c0207t0001a0086c0045t0001 | a0003c0044t0001g0106 a0011c0207t0001g0117 a0086c0045t0001g0109 |
3 | 252 | 0.0119 | 8 | c.253 others(27): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540969 | G | GGGTGAGC others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02280.hp1 others(3): Show |
a0002a0025a0076others(3): Show | a0002c0161a0025c0017a0076c0221others(3): Show | a0002c0161t0003a0025c0017t0001a0076c0221t0001others(3): Show | a0002c0161t0003g0246 a0025c0017t0001g0078 a0076c0221t0001g0139 others(3): Show |
6 | 252 | 0.0238 | 8 | c.253 others(27): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78548202 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00673.hp1 others(25): Show |
a0002a0003a0004others(17): Show | a0002c0003a0002c0038a0002c0178others(23): Show | a0002c0003t0001a0002c0038t0001a0002c0178t0001others(23): Show | a0002c0003t0001g0044 a0002c0003t0001g0174 a0002c0038t0001g0213 others(25): Show |
28 | 252 | 0.1111 | 8 | c.239 others(27): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH1_chr3_52311319_52405492 | 52340408 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG04204.hp1 |
a0003a0008a0042 | a0003c0004a0008c0055a0042c0023 | a0003c0004t0001a0008c0055t0001a0042c0023t0001 | a0003c0004t0001g0041 a0008c0055t0001g0028 a0042c0023t0001g0044 |
3 | 182 | 0.0165 | 8 | c.128 others(27): Show |
DNAH1 | ENSG00000114841.18 | transcript | ENST00000420323.7 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7714124 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00642.hp1 others(44): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0005a0001c0006others(31): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(32): Show | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0137 others(43): Show |
47 | 316 | 0.1487 | 8 | c.-46 others(19): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3619 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7741232 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03579.hp1 HG04199.hp2 |
a0001a0017a0018 | a0001c0001a0017c0024a0018c0129 | a0001c0001t0001a0017c0024t0003a0018c0129t0003 | a0001c0001t0001g0247 a0017c0024t0003g0251 a0018c0129t0003g0295 |
3 | 316 | 0.0095 | 8 | c.168 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00735.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0002g0048 others(21): Show |
24 | 316 | 0.0760 | 8 | c.168 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741299 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01993.hp2 NA18951.hp2 others(1): Show |
a0002a0004a0011others(1): Show | a0002c0007a0004c0008a0011c0106others(1): Show | a0002c0007t0001a0004c0008t0005a0011c0106t0001others(1): Show | a0002c0007t0001g0139 a0004c0008t0005g0073 a0011c0106t0001g0141 others(1): Show |
4 | 316 | 0.0127 | 8 | c.168 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741303 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02970.hp2 NA18952.hp2 |
a0001a0010 | a0001c0001a0001c0005a0010c0017 | a0001c0001t0001a0001c0005t0001a0010c0017t0002 | a0001c0001t0001g0247 a0001c0005t0001g0103 a0010c0017t0002g0042 |
3 | 316 | 0.0095 | 8 | c.168 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741315 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02965.hp1 HG03471.hp2 others(6): Show |
a0001a0002a0005others(4): Show | a0001c0006a0001c0021a0002c0003others(5): Show | a0001c0006t0001a0001c0021t0001a0002c0003t0002others(5): Show | a0001c0006t0001g0158 a0001c0021t0001g0121 a0002c0003t0002g0045 others(6): Show |
9 | 316 | 0.0285 | 8 | c.168 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741319 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01123.hp2 HG01243.hp2 others(15): Show |
a0001a0002a0011others(5): Show | a0001c0005a0001c0006a0001c0009others(12): Show | a0001c0005t0004a0001c0006t0004a0001c0009t0001others(12): Show | a0001c0005t0004g0202 a0001c0006t0004g0207 a0001c0009t0001g0164 others(15): Show |
18 | 316 | 0.0570 | 8 | c.168 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02040.hp2 HG02155.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0084a0002c0003others(2): Show | a0001c0002t0002a0001c0084t0002a0002c0003t0001others(2): Show | a0001c0002t0002g0060 a0001c0084t0002g0065 a0002c0003t0001g0128 others(2): Show |
5 | 316 | 0.0158 | 8 | c.168 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01981.hp1 HG02155.hp1 others(11): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0016a0002c0003others(11): Show | a0001c0001t0002a0001c0016t0001a0002c0003t0003others(11): Show | a0001c0001t0002g0080 a0001c0016t0001g0184 a0002c0003t0003g0307 others(11): Show |
14 | 316 | 0.0443 | 8 | c.168 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7751920 | G | GGGGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(40): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0005a0001c0018others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0002g0028 others(40): Show |
43 | 316 | 0.1361 | 8 | c.190 others(27): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7751920 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 NA18994.hp1 |
a0001a0026a0030 | a0001c0005a0026c0083a0030c0030 | a0001c0005t0002a0026c0083t0001a0030c0030t0003 | a0001c0005t0002g0055 a0026c0083t0001g0151 a0030c0030t0003g0302 |
3 | 316 | 0.0095 | 8 | c.190 others(27): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7778591 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01361.hp1 HG02148.hp2 others(17): Show |
a0001a0002a0014others(7): Show | a0001c0021a0001c0053a0002c0038others(13): Show | a0001c0021t0001a0001c0021t0002a0001c0053t0001others(14): Show | a0001c0021t0001g0121 a0001c0021t0001g0178 a0001c0021t0001g0236 others(17): Show |
20 | 316 | 0.0633 | 8 | c.554 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 35/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7793447 | T | TTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(50): Show |
a0001a0002a0004others(20): Show | a0001c0001a0001c0005a0001c0006others(36): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0001others(44): Show | a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0053 others(50): Show |
53 | 316 | 0.1677 | 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 | 7793447 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01928.hp2 HG01981.hp1 others(4): Show |
a0001a0003a0006others(2): Show | a0001c0010a0001c0021a0003c0004others(3): Show | a0001c0010t0001a0001c0021t0001a0003c0004t0001others(3): Show | a0001c0010t0001g0154 a0001c0021t0001g0236 a0003c0004t0001g0120 others(4): Show |
7 | 316 | 0.0222 | 8 | c.756 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 48/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20959610 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01361.hp1 HG03209.hp1 others(1): Show |
a0001a0013a0038 | a0001c0064a0001c0095a0013c0017others(1): Show | a0001c0064t0001a0001c0095t0001a0013c0017t0001others(1): Show | a0001c0064t0001g0038 a0001c0095t0001g0079 a0013c0017t0001g0049 others(1): Show |
4 | 234 | 0.0171 | 8 | c.104 others(27): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 53/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20984161 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 |
a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0179 a0007c0012t0001g0184 |
2 | 234 | 0.0086 | 8 | c.755 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 48/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020375 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18906.hp2 |
a0002a0053 | a0002c0089a0053c0090 | a0002c0089t0001a0053c0090t0001 | a0002c0089t0001g0165 a0053c0090t0001g0164 |
2 | 234 | 0.0086 | 8 | c.563 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21023786 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01168.hp2 others(12): Show |
a0001a0003a0008others(4): Show | a0001c0002a0001c0011a0003c0005others(6): Show | a0001c0002t0001a0001c0011t0002a0003c0005t0001others(6): Show | a0001c0002t0001g0155 a0001c0002t0001g0199 a0001c0002t0001g0217 others(12): Show |
15 | 234 | 0.0641 | 8 | c.550 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 39/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21040358 | A | ATCTTTTT others(1): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02647.hp1 HG03225.hp1 others(4): Show |
a0001a0002a0033 | a0001c0026a0002c0004a0002c0006others(1): Show | a0001c0026t0001a0002c0004t0001a0002c0006t0001others(1): Show | a0001c0026t0001g0119 a0002c0004t0001g0197 a0002c0006t0001g0064 others(4): Show |
7 | 234 | 0.0299 | 8 | c.450 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 32/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21072232 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(53): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0011a0001c0013others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(23): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0163 others(53): Show |
56 | 234 | 0.2393 | 8 | c.294 others(27): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 21/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21072236 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02723.hp1 others(4): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0079a0007c0012others(1): Show | a0001c0001t0001a0005c0079t0001a0007c0012t0001others(1): Show | a0001c0001t0001g0208 a0005c0079t0001g0123 a0007c0012t0001g0179 others(4): Show |
7 | 234 | 0.0299 | 8 | c.294 others(27): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 21/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21099233 | C | CATGGATG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01109.hp2 others(34): Show |
a0001a0003a0005others(10): Show | a0001c0033a0001c0093a0001c0094others(19): Show | a0001c0033t0001a0001c0093t0001a0001c0094t0001others(20): Show | a0001c0033t0001g0075 a0001c0033t0001g0077 a0001c0093t0001g0083 others(34): Show |
37 | 234 | 0.1581 | 8 | c.222 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 16/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21139320 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00735.hp1 others(37): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(21): Show | a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0163 others(37): Show |
40 | 234 | 0.1709 | 8 | c.609 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 6/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13713434 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG03225.hp1 others(1): Show |
a0007a0122a0133others(1): Show | a0007c0116a0122c0157a0133c0127others(1): Show | a0007c0116t0002a0122c0157t0002a0133c0127t0005others(1): Show | a0007c0116t0002g0058 a0122c0157t0002g0133 a0133c0127t0005g0013 others(1): Show |
4 | 252 | 0.0159 | 8 | c.131 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778492 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0002a0005a0006others(36): Show | a0002c0001a0005c0016a0005c0081others(45): Show | a0002c0001t0001a0005c0016t0001a0005c0081t0001others(46): Show | a0002c0001t0001g0130 a0005c0016t0001g0088 a0005c0016t0001g0108 others(52): Show |
55 | 252 | 0.2183 | 8 | c.895 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778496 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02809.hp1 others(4): Show |
a0001a0027a0051others(3): Show | a0001c0128a0027c0147a0027c0148others(4): Show | a0001c0128t0005a0027c0147t0006a0027c0148t0001others(4): Show | a0001c0128t0005g0012 a0027c0147t0006g0188 a0027c0148t0001g0189 others(4): Show |
7 | 252 | 0.0278 | 8 | c.895 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778539 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01256.hp1 others(13): Show |
a0001a0003a0004others(11): Show | a0001c0006a0003c0013a0004c0010others(12): Show | a0001c0006t0002a0003c0013t0002a0004c0010t0001others(12): Show | a0001c0006t0002g0132 a0003c0013t0002g0041 a0004c0010t0001g0101 others(13): Show |
16 | 252 | 0.0635 | 8 | c.895 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG02080.hp2 others(5): Show |
a0009a0014a0018others(5): Show | a0009c0007a0014c0166a0018c0017others(5): Show | a0009c0007t0002a0014c0166t0002a0018c0017t0001others(5): Show | a0009c0007t0002g0126 a0014c0166t0002g0117 a0018c0017t0001g0071 others(5): Show |
8 | 252 | 0.0318 | 8 | c.895 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13833131 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(99): Show |
a0002a0004a0005others(65): Show | a0002c0180a0004c0121a0005c0019others(83): Show | a0002c0180t0012a0004c0121t0001a0005c0019t0001others(84): Show | a0002c0180t0012g0167 a0004c0121t0001g0093 a0005c0019t0001g0057 others(99): Show |
102 | 252 | 0.4048 | 8 | c.588 others(27): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 35/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842423 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01496.hp2 HG01943.hp1 others(10): Show |
a0001a0002a0003others(9): Show | a0001c0162a0002c0001a0003c0015others(9): Show | a0001c0162t0002a0002c0001t0001a0003c0015t0002others(9): Show | a0001c0162t0002g0123 a0002c0001t0001g0175 a0003c0015t0002g0104 others(10): Show |
13 | 252 | 0.0516 | 8 | c.527 others(25): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01496.hp1 HG02040.hp2 others(2): Show |
a0006a0013a0030others(2): Show | a0006c0093a0013c0004a0030c0021others(2): Show | a0006c0093t0002a0013c0004t0001a0030c0021t0002others(2): Show | a0006c0093t0002g0049 a0013c0004t0001g0089 a0030c0021t0002g0051 others(2): Show |
5 | 252 | 0.0198 | 8 | c.527 others(25): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13862860 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp1 others(46): Show |
a0001a0002a0004others(28): Show | a0001c0006a0001c0035a0002c0001others(33): Show | a0001c0006t0023a0001c0035t0002a0002c0001t0001others(33): Show | a0001c0006t0023g0233 a0001c0035t0002g0158 a0001c0035t0002g0171 others(46): Show |
49 | 252 | 0.1944 | 8 | c.459 others(25): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 28/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13921436 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01074.hp1 others(22): Show |
a0001a0002a0004others(14): Show | a0001c0128a0001c0130a0002c0129others(19): Show | a0001c0128t0005a0001c0130t0017a0002c0129t0009others(20): Show | a0001c0128t0005g0012 a0001c0130t0017g0190 a0002c0129t0009g0191 others(22): Show |
25 | 252 | 0.0992 | 8 | c.660 others(23): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 5/78 | chr5 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84514861 | C | CCAGTCAC others(1): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0086 |
2 | 116 | 0.0172 | 8 | c.-17 others(19): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 1636 | chr2 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84514867 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(4): Show |
a0001a0015a0016 | a0001c0001a0001c0020a0001c0031others(2): Show | a0001c0001t0001a0001c0020t0001a0001c0031t0001others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0079 others(4): Show |
7 | 116 | 0.0603 | 8 | c.-17 others(19): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 1630 | chr2 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84557656 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01081.hp1 HG02622.hp1 others(7): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0021a0001c0034others(5): Show | a0001c0001t0001a0001c0021t0001a0001c0034t0004others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0021t0001g0032 others(7): Show |
10 | 116 | 0.0862 | 8 | c.160 others(23): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84598127 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01934.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0010a0001c0028a0002c0004others(4): Show | a0001c0010t0001a0001c0028t0001a0002c0004t0001others(4): Show | a0001c0010t0001g0020 a0001c0010t0001g0025 a0001c0028t0001g0017 others(10): Show |
13 | 116 | 0.1121 | 8 | c.286 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84614010 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01243.hp1 others(16): Show |
a0001a0002a0006others(1): Show | a0001c0005a0001c0010a0001c0026others(5): Show | a0001c0005t0001a0001c0010t0001a0001c0026t0001others(5): Show | a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0023 others(16): Show |
19 | 116 | 0.1638 | 8 | c.347 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 22/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84668810 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03130.hp1 HG03471.hp2 |
a0001a0013 | a0001c0005a0013c0027 | a0001c0005t0001a0013c0027t0001 | a0001c0005t0001g0018 a0001c0005t0001g0019 a0013c0027t0001g0016 |
3 | 116 | 0.0259 | 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 | 84761789 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG03041.hp2 |
a0001 | a0001c0010a0001c0036 | a0001c0010t0001a0001c0036t0003 | a0001c0010t0001g0025 a0001c0010t0001g0026 a0001c0036t0003g0060 |
3 | 116 | 0.0259 | 8 | c.105 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 63/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84786101 | A | AGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01361.hp2 HG01884.hp2 others(5): Show |
a0004a0009a0014 | a0004c0007a0009c0018a0009c0046others(1): Show | a0004c0007t0001a0009c0018t0002a0009c0046t0001others(1): Show | a0004c0007t0001g0106 a0004c0007t0001g0108 a0004c0007t0001g0109 others(5): Show |
8 | 116 | 0.0690 | 8 | c.111 others(27): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 67/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |