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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1I_chr22_39565753_39694735 | 39596409 | G | GGGCAGGG others(11): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19009.hp1 NA19011.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0198 |
3 | 223 | 0.0135 | 18 | c.237 others(35): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39686609 | C | CATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01993.hp1 HG06807.hp1 |
a0004 | a0004c0004 | a0004c0004t0035a0004c0004t0059 | a0004c0004t0035g0023 a0004c0004t0059g0058 |
2 | 173 | 0.0116 | 18 | c.*21 others(27): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0054 | a0005c0054t0001 | a0005c0054t0001g0177 | 1 | 10 | 0.1000 | 18 | c.*40 others(29): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201056070 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18989.hp1 |
a0001a0031 | a0001c0021a0031c0041 | a0001c0021t0001a0031c0041t0001 | a0001c0021t0001g0207 a0031c0041t0001g0044 |
2 | 180 | 0.0111 | 18 | c.361 others(37): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201111063 | G | GGGGGCTA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp2 others(15): Show |
a0001a0002a0005others(3): Show | a0001c0009a0001c0014a0001c0033others(9): Show | a0001c0009t0001a0001c0014t0001a0001c0033t0001others(9): Show | a0001c0009t0001g0001 a0001c0009t0001g0259 a0001c0009t0001g0264 others(13): Show |
18 | 312 | 0.0577 | 18 | c.153 others(33): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201111065 | G | GGGCTACT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0262 | 1 | 312 | 0.0032 | 18 | c.153 others(33): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951969 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0019 | 1 | 36 | 0.0278 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951970 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0075 | 1 | 125 | 0.0080 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951970 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0088 a0001c0001t0005g0112 |
2 | 126 | 0.0159 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951970 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0022others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0039 others(11): Show |
14 | 138 | 0.1014 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951971 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0065 | 1 | 142 | 0.0070 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951974 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0080 | 1 | 142 | 0.0070 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951975 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 142 | 0.0070 | 18 | c.316 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0043 | 1 | 9 | 0.1111 | 18 | c.295 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82217394 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01258.hp2 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0133 a0001c0001t0003g0034 a0001c0001t0003g0062 others(7): Show |
10 | 14 | 0.7143 | 18 | c.295 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82245676 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0070 a0001c0001t0002g0097 a0001c0001t0003g0013 others(10): Show |
13 | 38 | 0.3421 | 18 | c.295 others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82332510 | T | TAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0010 | a0001c0001t0002g0129 a0001c0001t0005g0139 a0001c0002t0010g0092 |
3 | 60 | 0.0500 | 18 | c.294 others(35): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82366903 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | 74 | 0.0270 | 18 | c.96- others(35): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54122512 | T | TCCCTCCC others(11): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0027 | 1 | 116 | 0.0086 | 18 | c.-20 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 39 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54141061 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 NA18979.hp1 |
a0001 | a0001c0004a0001c0017 | a0001c0004t0001a0001c0017t0001 | a0001c0004t0001g0031 a0001c0017t0001g0025 |
2 | 54 | 0.0370 | 18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54141086 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 82 | 0.0122 | 18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54149877 | G | GTGTCTCT others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0089 | 1 | 106 | 0.0094 | 18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54171136 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03579.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0087 a0001c0003t0001g0042 a0001c0008t0001g0092 others(1): Show |
4 | 19 | 0.2105 | 18 | c.204 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54252100 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0086 | 1 | 33 | 0.0303 | 18 | c.205 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54306328 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0001a0001c0012t0005 | a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0003t0001g0011 others(1): Show |
4 | 116 | 0.0345 | 18 | c.205 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54319199 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0009 | 1 | 91 | 0.0110 | 18 | c.205 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03579.hp2 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0001a0001c0014t0001 | a0001c0003t0001g0101 a0001c0014t0001g0071 |
2 | 24 | 0.0833 | 18 | c.321 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350968 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0085 | 1 | 92 | 0.0109 | 18 | c.321 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54399860 | C | CAGGCTGC others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01070.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(22): Show | a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0068 others(30): Show |
33 | 116 | 0.2845 | 18 | c.381 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54399861 | C | CGGCTGCT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG02080.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0045 others(10): Show |
13 | 83 | 0.1566 | 18 | c.381 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54475809 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0045 others(17): Show |
20 | 23 | 0.8696 | 18 | c.382 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54554870 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0005 | a0001c0001t0001g0024 a0001c0016t0005g0116 |
2 | 11 | 0.1818 | 18 | c.545 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0077 | 1 | 72 | 0.0139 | 18 | c.964 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54618375 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 14 | 0.0714 | 18 | c.964 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54631203 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0035 a0001c0002t0001g0060 a0001c0005t0001g0052 others(1): Show |
4 | 38 | 0.1053 | 18 | c.105 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54687103 | A | ATTTTTCT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008a0001c0010others(2): Show | a0001c0001t0003a0001c0001t0012a0001c0008t0001others(3): Show | a0001c0001t0003g0058 a0001c0001t0012g0063 a0001c0008t0001g0103 others(3): Show |
6 | 113 | 0.0531 | 18 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54809311 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 HG06807.hp1 NA18951.hp2 |
a0001 | a0001c0008a0001c0015a0001c0025 | a0001c0008t0001a0001c0015t0001a0001c0025t0004 | a0001c0008t0001g0092 a0001c0015t0001g0108 a0001c0025t0004g0106 |
3 | 47 | 0.0638 | 18 | c.138 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54832011 | T | TCATACAC others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0023 | 1 | 33 | 0.0303 | 18 | c.139 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | G | GCGCGCGC others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03471.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0010a0001c0021 | a0001c0001t0001a0001c0010t0006a0001c0021t0002 | a0001c0001t0001g0083 a0001c0010t0006g0062 a0001c0021t0002g0023 |
3 | 19 | 0.1579 | 18 | c.162 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54883799 | A | ATCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0109 | 1 | 66 | 0.0152 | 18 | c.191 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55008888 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0006a0001c0006t0001others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0061 a0001c0001t0001g0097 others(4): Show |
7 | 20 | 0.3500 | 18 | c.282 others(35): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55073365 | C | CACCCAGG others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0012 | a0001c0012t0011 | a0001c0012t0011g0036 | 1 | 116 | 0.0086 | 18 | c.298 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1848762 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18944.hp2 NA18973.hp1 others(1): Show |
a0003 | a0003c0013 | a0003c0013t0001a0003c0013t0002a0003c0013t0007others(1): Show | a0003c0013t0001g0226 a0003c0013t0002g0067 a0003c0013t0007g0007 others(1): Show |
4 | 119 | 0.0336 | 18 | c.224 others(37): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNB1_chr17_39168453_39202669 | 39170961 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 235 | 0.0043 | 18 | c.*42 others(29): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 2491 | chr17 | TogoVar | |||||||
CACNB1_chr17_39168453_39202669 | 39183337 | A | AAAGAAGA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 354 | 0.0028 | 18 | c.105 others(35): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 11/13 | chr17 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(11): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp1 HG03540.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0012a0001c0001t0044others(1): Show | a0001c0001t0008g0063 a0001c0001t0012g0125 a0001c0001t0044g0128 others(1): Show |
4 | 88 | 0.0455 | 18 | c.121 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18172924 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0003g0030 others(10): Show |
13 | 87 | 0.1494 | 18 | c.213 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220232 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 63 | 0.0159 | 18 | c.213 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18288676 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01192.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0096 a0001c0001t0004g0152 a0001c0001t0006g0028 others(10): Show |
13 | 97 | 0.1340 | 18 | c.214 others(39): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0015 | 1 | 81 | 0.0123 | 18 | c.214 others(37): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |