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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1E_chr1_181478517_181813084 | 181548120 | T | TTTTATTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00673.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0126 a0001c0001t0003g0134 a0001c0001t0006g0123 others(11): Show |
14 | 130 | 0.1077 | 9 | c.513 others(28): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181548120 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(47): Show | a0001c0001t0002g0195 a0001c0001t0003g0044 a0001c0001t0003g0130 others(70): Show |
73 | 189 | 0.3862 | 9 | c.513 others(28): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39596214 | T | TGGGGAGC others(2): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02080.hp1 HG02083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0003 | a0001c0001t0003g0151 a0001c0002t0002g0206 a0001c0002t0003g0186 |
3 | 151 | 0.0199 | 9 | c.237 others(26): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39601903 | C | CTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02145.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0011 | a0001c0014a0002c0003a0002c0031others(1): Show | a0001c0014t0001a0002c0003t0001a0002c0003t0009others(3): Show | a0001c0014t0001g0045 a0002c0003t0001g0048 a0002c0003t0001g0049 others(7): Show |
10 | 228 | 0.0439 | 9 | c.482 others(26): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201046174 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01891.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(28): Show |
31 | 244 | 0.1270 | 9 | c.466 others(26): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81955980 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03834.hp2 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0042 a0001c0001t0004g0050 a0001c0001t0006g0116 others(3): Show |
6 | 88 | 0.0682 | 9 | c.315 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82060180 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02895.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0012 a0001c0001t0003g0062 a0001c0001t0005g0126 others(1): Show |
4 | 137 | 0.0292 | 9 | c.879 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82136546 | C | CTTAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01243.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0003g0005 others(15): Show |
18 | 142 | 0.1268 | 9 | c.396 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 5/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82139945 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG01884.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0058 others(15): Show |
18 | 75 | 0.2400 | 9 | c.355 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82183762 | T | TAGGTACA others(2): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0020 | a0001c0001t0002g0097 a0001c0001t0003g0076 a0001c0001t0003g0086 others(1): Show |
4 | 142 | 0.0282 | 9 | c.295 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82297072 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01258.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0004g0046 a0001c0001t0008g0073 a0001c0001t0009g0080 others(2): Show |
5 | 22 | 0.2273 | 9 | c.294 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50462430 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02970.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006 | a0001c0001t0001g0040 a0001c0002t0001g0079 a0001c0002t0001g0090 others(2): Show |
5 | 204 | 0.0245 | 9 | c.288 others(28): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54171136 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00639.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0107 others(9): Show |
12 | 27 | 0.4444 | 9 | c.204 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54191397 | A | ACATCATC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG02080.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0001a0001c0003t0001a0001c0015t0001 | a0001c0001t0001g0046 a0001c0003t0001g0101 a0001c0003t0001g0112 others(1): Show |
4 | 26 | 0.1538 | 9 | c.204 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54678720 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0035 | a0001c0003t0001a0001c0004t0002a0001c0035t0001 | a0001c0003t0001g0084 a0001c0003t0001g0101 a0001c0003t0001g0110 others(3): Show |
6 | 37 | 0.1622 | 9 | c.116 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54689010 | A | AAAAAAAG others(2): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0002a0001c0009a0001c0019others(1): Show | a0001c0002t0001a0001c0009t0001a0001c0019t0001others(1): Show | a0001c0002t0001g0070 a0001c0009t0001g0013 a0001c0019t0001g0075 others(1): Show |
4 | 15 | 0.2667 | 9 | c.116 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54832013 | A | ATACACAC others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0045 a0001c0002t0001g0039 a0001c0007t0001g0043 others(1): Show |
4 | 116 | 0.0345 | 9 | c.139 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54883823 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01258.hp1 others(3): Show |
a0001 | a0001c0008a0001c0016a0001c0018others(1): Show | a0001c0008t0001a0001c0016t0005a0001c0018t0001others(1): Show | a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0008t0001g0103 others(3): Show |
6 | 84 | 0.0714 | 9 | c.191 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54886935 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01884.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 others(18): Show |
21 | 32 | 0.6563 | 9 | c.205 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54911351 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02109.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(3): Show | a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0012g0063 others(5): Show |
8 | 31 | 0.2581 | 9 | c.244 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1848762 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(160): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0083 others(160): Show |
163 | 278 | 0.5863 | 9 | c.224 others(28): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1851682 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01256.hp1 HG02129.hp1 others(7): Show |
a0001a0004a0008 | a0001c0001a0004c0022a0004c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0039 a0001c0001t0002g0092 a0001c0001t0002g0113 others(7): Show |
10 | 162 | 0.0617 | 9 | c.224 others(28): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNB1_chr17_39168453_39202669 | 39191275 | C | CACTTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 others(68): Show |
102 | 394 | 0.2589 | 9 | c.291 others(24): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 3/13 | chr17 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18137084 | C | CTTCCTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG02451.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(3): Show | a0001c0001t0001g0127 a0001c0001t0007g0182 a0001c0001t0015g0006 others(4): Show |
7 | 33 | 0.2121 | 9 | c.-36 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3339 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18172924 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01891.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0049 a0001c0001t0004g0149 a0001c0001t0004g0150 others(21): Show |
24 | 98 | 0.2449 | 9 | c.213 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CATTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0042 | a0001c0001t0006g0028 a0001c0002t0042g0102 |
2 | 82 | 0.0244 | 9 | c.214 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18356938 | A | ATGTCTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0012a0002c0003t0017 | a0001c0001t0012g0125 a0002c0003t0017g0141 |
2 | 110 | 0.0182 | 9 | c.214 others(28): 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(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01943.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0096 a0001c0001t0003g0047 a0001c0001t0003g0172 others(10): Show |
13 | 43 | 0.3023 | 9 | c.333 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18423140 | C | CTTACCTG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(174): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(49): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(174): Show |
177 | 200 | 0.8850 | 9 | c.333 others(28): 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(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0079 a0001c0001t0007g0088 a0001c0001t0009g0159 others(1): Show |
4 | 182 | 0.0220 | 9 | c.334 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18356938 | A | ATGTCTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03041.hp1 NA18955.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0047a0002c0003t0018 | a0001c0001t0003g0234 a0001c0002t0047g0166 a0002c0003t0018g0292 |
3 | 186 | 0.0161 | 9 | c.51+ others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18407109 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01934.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0001g0121 others(16): Show |
19 | 67 | 0.2836 | 9 | c.171 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18423140 | C | CTTACCTG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(56): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(264): Show |
268 | 300 | 0.8933 | 9 | c.171 others(28): 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(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01943.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0168 a0001c0001t0003g0023 a0001c0001t0003g0167 others(3): Show |
6 | 266 | 0.0226 | 9 | c.172 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18545868 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02818.hp1 NA18967.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0029a0001c0001t0061others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0125 a0001c0001t0029g0232 others(3): Show |
6 | 13 | 0.4615 | 9 | c.*61 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2312 | chr10 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152062013 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00735.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0113 others(21): Show |
24 | 69 | 0.3478 | 9 | c.147 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36655733 | T | TCTTCCTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01516.hp2 HG01884.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0041others(6): Show | a0001c0001t0011g0106 a0001c0001t0012g0149 a0001c0001t0012g0173 others(7): Show |
10 | 193 | 0.0518 | 9 | c.211 others(28): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36670630 | T | TTTTTGTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02258.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(13): Show | a0001c0001t0002g0049 a0001c0001t0008g0174 a0001c0001t0011g0101 others(14): Show |
17 | 129 | 0.1318 | 9 | c.211 others(28): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703238 | A | AGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02717.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0020a0001c0001t0052others(9): Show | a0001c0001t0011g0101 a0001c0001t0011g0103 a0001c0001t0011g0106 others(12): Show |
15 | 115 | 0.1304 | 9 | c.-67 others(18): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/4 | 663 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36706226 | C | CTCTTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01934.hp1 NA18961.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0032others(2): Show | a0001c0001t0001g0022 a0001c0001t0004g0083 a0001c0001t0032g0047 others(2): Show |
5 | 48 | 0.1042 | 9 | c.-36 others(20): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2475 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24314733 | G | GCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 others(55): Show |
58 | 192 | 0.3021 | 9 | c.212 others(28): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66964582 | C | CGCGGCGG others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(1): Show | a0001c0001t0001g0113 a0001c0001t0002g0108 a0001c0001t0002g0109 others(4): Show |
7 | 350 | 0.0200 | 9 | c.-33 others(18): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 124 | chr17 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54002282 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01099.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0075 a0001c0001t0001g0356 a0001c0001t0002g0049 others(32): Show |
36 | 422 | 0.0853 | 9 | c.544 others(26): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53906081 | C | CCTTCTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02965.hp2 HG03471.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0224 a0001c0001t0001g0236 others(2): Show |
7 | 280 | 0.0250 | 9 | c.-34 others(20): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3196 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01099.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0282 a0001c0001t0001g0283 others(2): Show |
5 | 128 | 0.0391 | 9 | c.-34 others(20): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTTCTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01978.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0093 a0001c0001t0001g0094 others(10): Show |
13 | 136 | 0.0956 | 9 | c.-34 others(20): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53911040 | T | TTGGTGGT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 others(90): Show |
94 | 364 | 0.2582 | 9 | c.-30 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115169206 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02738.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0039 a0001c0001t0004g0095 a0001c0001t0004g0127 others(7): Show |
10 | 15 | 0.6667 | 9 | c.*72 others(20): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 29 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115206758 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp2 HG02071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0002g0009 a0001c0001t0002g0061 a0001c0001t0002g0111 others(16): Show |
19 | 22 | 0.8636 | 9 | c.107 others(28): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 8/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115223973 | A | AAAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01361.hp1 HG01952.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0023others(1): Show | a0001c0001t0015g0138 a0001c0001t0015g0139 a0001c0001t0016g0121 others(3): Show |
6 | 8 | 0.7500 | 9 | c.721 others(26): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 5/11 | chr11 | TogoVar |