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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1S_chr1_201034512_201117426 | 201036033 | T | TGTGTGTG others(6): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 311 | 0.0032 | 13 | c.*37 others(24): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3478 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201046174 | A | ATTTATTT others(6): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 214 | 0.0047 | 13 | c.466 others(30): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201056082 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 184 | 0.0054 | 13 | c.361 others(32): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82060150 | G | GTATTATA others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02886.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0012a0001c0002t0001 | a0001c0001t0007g0020 a0001c0001t0007g0059 a0001c0001t0007g0078 others(5): Show |
8 | 133 | 0.0602 | 13 | c.879 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82060167 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 138 | 0.0072 | 13 | c.879 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82060211 | A | ATTATATA others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01169.hp1 others(20): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(20): Show |
23 | 107 | 0.2150 | 13 | c.879 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82137707 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0111 | 1 | 40 | 0.0250 | 13 | c.355 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0070 a0001c0001t0008g0073 |
2 | 10 | 0.2000 | 13 | c.295 others(32): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82185475 | G | GGGGAGGG others(6): Show |
intron_variant | MODIFIER | HG02148.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0140 a0001c0001t0005g0100 |
2 | 142 | 0.0141 | 13 | c.295 others(32): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82297072 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0112 | 1 | 18 | 0.0556 | 13 | c.294 others(32): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82363254 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0098 a0001c0001t0021g0114 |
2 | 33 | 0.0606 | 13 | c.96- others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82366903 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0034 a0001c0002t0001g0033 |
2 | 74 | 0.0270 | 13 | c.96- others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82432037 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0087 a0001c0001t0003g0086 a0001c0001t0003g0088 |
3 | 45 | 0.0667 | 13 | c.95+ others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54171136 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18951.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061 a0001c0002t0001g0079 |
2 | 17 | 0.1176 | 13 | c.204 others(32): 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(6): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(4): Show | a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0003g0058 others(5): Show |
8 | 40 | 0.2000 | 13 | c.205 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350968 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 92 | 0.0109 | 13 | c.321 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54388685 | T | TCACATGA others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01070.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(20): Show | a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0068 others(27): Show |
30 | 116 | 0.2586 | 13 | c.381 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54412610 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02622.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0003g0058 a0001c0002t0001g0079 a0001c0003t0001g0026 others(5): Show |
8 | 54 | 0.1481 | 13 | c.381 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822773 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0103 | 1 | 115 | 0.0087 | 13 | c.139 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCTCT others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 64 | 0.0156 | 13 | c.139 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0025 | 1 | 64 | 0.0156 | 13 | c.139 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54832011 | T | TCATACAC others(6): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0093 | 1 | 33 | 0.0303 | 13 | c.139 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54883823 | C | CTCTCTCT others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0068 others(3): Show |
6 | 84 | 0.0714 | 13 | c.191 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54911351 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0087 a0001c0007t0001g0067 |
2 | 25 | 0.0800 | 13 | c.244 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1820246 | C | CGGCGGGG others(6): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0165 | 1 | 306 | 0.0033 | 13 | c.255 others(32): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1851651 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 301 | 0.0033 | 13 | c.224 others(32): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18137084 | C | CTTCCTTC others(6): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0003g0199 others(6): Show |
9 | 35 | 0.2571 | 13 | c.-36 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3339 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(6): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp2 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0003g0030 others(7): Show |
10 | 94 | 0.1064 | 13 | c.121 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18171521 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01358.hp1 HG01516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(4): Show | a0001c0001t0001g0008 a0001c0001t0003g0080 a0001c0001t0020g0014 others(5): Show |
8 | 85 | 0.0941 | 13 | c.213 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18171543 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0025 a0001c0001t0003g0026 a0001c0001t0006g0023 others(4): Show |
7 | 192 | 0.0365 | 13 | c.213 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18172924 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 | 1 | 75 | 0.0133 | 13 | c.213 others(32): 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(6): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0120 | 1 | 81 | 0.0123 | 13 | c.214 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18407109 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01433.hp2 HG01496.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0099 a0001c0001t0004g0165 others(5): Show |
8 | 38 | 0.2105 | 13 | c.333 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18464418 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0027 | 1 | 66 | 0.0152 | 13 | c.334 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18464418 | T | TAAAATAA others(6): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 66 | 0.0152 | 13 | c.334 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481230 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0109 | 1 | 162 | 0.0062 | 13 | c.334 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481231 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0162 | 1 | 179 | 0.0056 | 13 | c.334 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18536243 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0110 | 1 | 94 | 0.0106 | 13 | c.130 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18407109 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0032others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0171 others(6): Show |
9 | 57 | 0.1579 | 13 | c.171 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0018 | a0002c0003t0018g0104 | 1 | 98 | 0.0102 | 13 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TAAAATAA others(6): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0158 | 1 | 98 | 0.0102 | 13 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481230 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18968.hp2 NA18979.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0061a0001c0002t0004a0002c0003t0017 | a0001c0001t0061g0172 a0001c0002t0004g0144 a0002c0003t0017g0189 |
3 | 251 | 0.0120 | 13 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481231 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02698.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0250 a0001c0002t0004g0194 |
2 | 262 | 0.0076 | 13 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02622.hp2 NA19058.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0020a0002c0003t0018 | a0001c0001t0001g0243 a0001c0001t0020g0100 a0002c0003t0018g0239 |
3 | 142 | 0.0211 | 13 | c.114 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151861842 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01192.hp2 HG01361.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0024others(1): Show | a0001c0002t0002g0043 a0001c0002t0002g0070 a0001c0002t0002g0146 others(12): Show |
15 | 128 | 0.1172 | 13 | c.759 others(30): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36625026 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02451.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(14): Show | a0001c0001t0001g0082 a0001c0001t0002g0003 a0001c0001t0002g0004 others(20): Show |
23 | 76 | 0.3026 | 13 | c.212 others(32): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36670630 | T | TTTTTGTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00735.hp1 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0036 others(80): Show |
83 | 195 | 0.4256 | 13 | c.211 others(32): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24252666 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0065 |
2 | 140 | 0.0143 | 13 | c.-40 others(24): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 3668 | chr16 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24257368 | G | GGGGGAGA others(6): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 100 | 0.0100 | 13 | c.211 others(28): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24280821 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 78 | 0.0128 | 13 | c.211 others(32): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |