| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BCL9_chr1_147536501_147631216 | 147541070 | TGAGAGAG others(46): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0129a0001c0001t0002g0179a0001c0001t0003g0009others(28): Show | 33 | 316 | 0.1044 | -53 | c.-10 others(64): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 430 | chr1 | TogoVar | ||||||
| BDH1_chr3_197504783_197560968 | 197510631 | TGTGTGTG others(46): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03098.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0100a0001c0001t0231 | a0001c0001t0100g0216a0001c0001t0231g0310 | 2 | 319 | 0.0063 | -53 | c.*12 others(64): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | |||||
| BDH1_chr3_197504783_197560968 | 197517232 | TCCCCCCT others(46): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0053a0001c0001t0062others(1): Show | a0001c0001t0032g0254a0001c0001t0053g0068a0001c0001t0062g0070others(1): Show | 4 | 319 | 0.0125 | -53 | c.410 others(70): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
| BID_chr22_17729138_17779469 | 17756432 | CTTCTTTC others(46): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01496.hp1 HG01981.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0005 | a0001c0001t0001g0051a0001c0001t0001g0121a0002c0002t0002g0263others(4): Show | 7 | 362 | 0.0193 | -53 | c.-58 others(70): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
| BPHL_chr6_3113711_3158578 | 3145598 | CGGAGTGC others(46): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043a0001c0001t0002g0236a0001c0001t0002g0237others(1): Show | 4 | 350 | 0.0114 | -53 | c.788 others(70): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BRD3_chr9_134025305_134073026 | 134029764 | AGGGAGGG others(46): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0155 | 1 | 334 | 0.0030 | -53 | c.*37 others(64): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 540 | chr9 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105275925 | CGGCCCTC others(46): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0054 | 2 | 72 | 0.0278 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276031 | CGGCCCTC others(46): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0027 | 1 | 72 | 0.0139 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276190 | CGGCCCTC others(46): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 72 | 0.0139 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276342 | CGAGAGGC others(46): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 72 | 0.0139 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276349 | CGGCCCTC others(46): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0027 | 1 | 72 | 0.0139 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276508 | GGGCCCTC others(46): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 72 | 0.0139 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276892 | AGAGCTGG others(46): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01928.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0030a0001c0001t0001g0042 | 3 | 72 | 0.0417 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276925 | CGAGAGGG others(46): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 72 | 0.0139 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276985 | GGGCCCTC others(46): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03579.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0002g0028 | 3 | 72 | 0.0417 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105277157 | GGAGCTGG others(46): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0030others(7): Show | 10 | 72 | 0.1389 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105277462 | GGGCCCTC others(46): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0029a0001c0001t0004g0008a0001c0001t0004g0009others(1): Show | 4 | 72 | 0.0556 | -53 | c.266 others(70): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| BRMS1L_chr14_35821338_35876963 | 35821554 | CATAATAA others(46): Show |
C | upstream_gene_variant | MODIFIER | NA19075.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0278 | 1 | 374 | 0.0027 | -53 | c.-49 others(64): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 4783 | chr14 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1394709 | TCCCTGGA others(46): Show |
T | intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0198 | 1 | 360 | 0.0028 | -53 | c.91+ others(68): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRWD1_chr21_39180482_39318632 | 39217035 | AAATATAT others(46): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0004 | a0004c0003 | a0004c0003t0056 | a0004c0003t0056g0160 | 1 | 338 | 0.0030 | -53 | c.365 others(72): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39217041 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01070.hp2 others(28): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0005a0003c0004t0010a0003c0004t0014others(3): Show | a0003c0004t0005g0096a0003c0004t0005g0097a0003c0004t0005g0098others(28): Show | 31 | 338 | 0.0917 | -53 | c.365 others(72): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39217043 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG01891.hp1 others(21): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0005a0003c0005t0007a0003c0005t0031others(3): Show | a0003c0004t0005g0091a0003c0004t0005g0133a0003c0004t0005g0134others(21): Show | 24 | 338 | 0.0710 | -53 | c.365 others(72): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
| C10orf90_chr10_126419997_126675693 | 126672466 | GACTGGTC others(46): Show |
G | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0181 | 1 | 218 | 0.0046 | -53 | c.-20 others(64): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1774 | chr10 | TogoVar | ||||||
| C13orf46_chr13_113948705_113979076 | 113963320 | GTCCCTGT others(46): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0017 | a0001c0001t0001g0026a0001c0001t0009g0243a0001c0001t0017g0027others(1): Show | 8 | 414 | 0.0193 | -53 | c.572 others(70): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 6/6 | chr13 | TogoVar | ||||||
| C3_chr19_6672704_6725650 | 6700463 | TATATATG others(46): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG06807.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0066a0001c0010t0001g0344 | 2 | 370 | 0.0054 | -53 | c.244 others(72): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1116157 | CGGCTTCC others(46): Show |
C | intron_variant | MODIFIER | NA18986.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0199a0001c0001t0027g0193 | 2 | 326 | 0.0061 | -53 | c.129 others(72): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1117348 | TGATGACA others(46): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 HG03225.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0318a0001c0001t0003g0289a0001c0001t0003g0290others(5): Show | 8 | 326 | 0.0245 | -53 | c.129 others(70): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| CA12_chr15_63316378_63386846 | 63320703 | CGACCAGA others(46): Show |
C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01884.hp2 HG02083.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0010a0001c0001t0017others(7): Show | a0001c0001t0006g0175a0001c0001t0006g0290a0001c0001t0006g0308others(21): Show | 26 | 356 | 0.0730 | -53 | c.*55 others(64): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 674 | chr15 | TogoVar | ||||||
| CA12_chr15_63316378_63386846 | 63321022 | AACCAGAA others(46): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0160 | 1 | 356 | 0.0028 | -53 | c.*52 others(64): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 355 | chr15 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2105574 | CGCCCACC others(46): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 104 | 0.0096 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2105610 | GTCCTGAA others(46): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0081 | 1 | 104 | 0.0096 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2105627 | TGCCCACC others(46): Show |
T | intron_variant | MODIFIER | HG01496.hp2 NA19030.hp1 |
a0001a0003 | a0001c0012a0003c0027 | a0001c0012t0007a0003c0027t0011 | a0001c0012t0007g0076a0003c0027t0011g0013 | 2 | 104 | 0.0192 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2105878 | GTGAAGCC others(46): Show |
G | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0014 | a0001c0014t0039 | a0001c0014t0039g0095 | 1 | 104 | 0.0096 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2106457 | GGGGTGTC others(46): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0045 | 1 | 104 | 0.0096 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2106585 | TGCTCACC others(46): Show |
T | intron_variant | MODIFIER | HG03239.hp2 NA18966.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0026a0001c0002t0003g0056 | 2 | 104 | 0.0192 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2106704 | GGAGGGTT others(46): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0026 | a0001c0001t0024a0001c0026t0003 | a0001c0001t0024g0080a0001c0026t0003g0066 | 2 | 104 | 0.0192 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2106757 | AGAGGGTT others(46): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0076 | 1 | 104 | 0.0096 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2106863 | AGAGGGTT others(46): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01496.hp1 others(18): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0022others(12): Show | a0001c0001t0002g0049a0001c0001t0002g0096a0001c0001t0005g0015others(18): Show | 21 | 104 | 0.2019 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2107335 | TGTGCTGA others(46): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03209.hp2 |
a0001a0003 | a0001c0001a0003c0035 | a0001c0001t0024a0003c0035t0025 | a0001c0001t0024g0080a0003c0035t0025g0078 | 2 | 104 | 0.0192 | -53 | c.50- others(68): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1190900 | CTGTGTGG others(46): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0008 | a0008c0056 | a0008c0056t0038 | a0008c0056t0038g0224 | 1 | 338 | 0.0030 | -53 | c.300 others(70): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1190931 | CTGACCCA others(46): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 338 | 0.0030 | -53 | c.300 others(70): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1190942 | TGCTGGCC others(46): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0031t0001 | a0001c0001t0001g0219a0001c0031t0001g0217a0001c0031t0001g0218 | 3 | 338 | 0.0089 | -53 | c.300 others(70): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1191040 | CCAGCAGG others(46): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0017 | a0017c0066 | a0017c0066t0025 | a0017c0066t0025g0232 | 1 | 338 | 0.0030 | -53 | c.300 others(70): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1191143 | GACTCAGC others(46): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 338 | 0.0030 | -53 | c.300 others(70): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1191349 | CTGACCCA others(46): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03130.hp1 |
a0002a0043 | a0002c0008a0043c0085 | a0002c0008t0019a0043c0085t0003 | a0002c0008t0019g0221a0043c0085t0003g0048 | 2 | 338 | 0.0059 | -53 | c.300 others(70): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1191765 | CTGACCCA others(46): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0017 | a0017c0066 | a0017c0066t0025 | a0017c0066t0025g0232 | 1 | 338 | 0.0030 | -53 | c.300 others(70): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1191816 | CGGTGACC others(46): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
a0001a0003a0030 | a0001c0001a0003c0028a0030c0067 | a0001c0001t0001a0003c0028t0004a0030c0067t0020 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | 338 | 0.0089 | -53 | c.300 others(70): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53920565 | TCCCCAGG others(46): Show |
T | intron_variant | MODIFIER | HG03209.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0355 | 2 | 364 | 0.0055 | -53 | c.424 others(70): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53921458 | TATTGCTG others(46): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0065a0001c0001t0007g0067 | 2 | 364 | 0.0055 | -53 | c.424 others(70): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53921862 | CATTGGTG others(46): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 364 | 0.0028 | -53 | c.424 others(70): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |