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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1C_chr12_2047987_2702950 | 2071172 | C | CCCTGCCT others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0008 | a0001c0008t0033 | a0001c0008t0033g0080 | 1 | 23 | 0.0435 | 28 | c.49+ others(45): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2378779 | G | GTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0036 | a0001c0001t0004a0001c0036t0007 | a0001c0001t0004g0004 a0001c0036t0007g0100 |
2 | 37 | 0.0541 | 28 | c.478 others(47): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2420102 | G | GGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG03098.hp1 |
a0001 | a0001c0015a0001c0018a0001c0021 | a0001c0015t0034a0001c0018t0042a0001c0021t0027 | a0001c0015t0034g0056 a0001c0018t0042g0083 a0001c0021t0027g0087 |
3 | 29 | 0.1034 | 28 | c.478 others(47): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0117 | 1 | 14 | 0.0714 | 28 | c.122 others(47): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0156 | 1 | 21 | 0.0476 | 28 | c.485 others(45): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0077 | 1 | 21 | 0.0476 | 28 | c.485 others(45): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181795767 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0186 | 1 | 125 | 0.0080 | 28 | c.620 others(45): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50570557 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03579.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0085 a0001c0008t0001g0106 |
2 | 66 | 0.0303 | 28 | c.586 others(43): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39602018 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 22 | 0.0455 | 28 | c.482 others(45): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39686609 | C | CATATATA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02683.hp2 | a0004 | a0004c0004 | a0004c0004t0034 | a0004c0004t0034g0011 | 1 | 172 | 0.0058 | 28 | c.*21 others(37): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 219 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201111922 | T | TCCTCCTC others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(69): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(69): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(218): Show |
226 | 260 | 0.8692 | 28 | c.152 others(43): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201111985 | C | CCTCTTCC others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0006 | a0006c0071 | a0006c0071t0001 | a0006c0071t0001g0039 | 1 | 312 | 0.0032 | 28 | c.152 others(43): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82055930 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0084 |
3 | 24 | 0.1250 | 28 | c.879 others(45): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82137707 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0062 a0001c0001t0007g0078 |
2 | 41 | 0.0488 | 28 | c.355 others(45): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 84 | 0.0119 | 28 | c.355 others(45): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82186230 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 126 | 0.0079 | 28 | c.295 others(47): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82186255 | A | AAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01258.hp2 HG02698.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0010 a0001c0001t0003g0034 a0001c0001t0004g0046 others(1): Show |
4 | 12 | 0.3333 | 28 | c.295 others(47): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82217394 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0010 a0001c0001t0007g0085 |
2 | 6 | 0.3333 | 28 | c.295 others(47): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82297072 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 18 | 0.0556 | 28 | c.294 others(47): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82332510 | T | TAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 58 | 0.0172 | 28 | c.294 others(45): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82385646 | G | GGTTGTTT others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 | 1 | 142 | 0.0070 | 28 | c.96- others(45): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82385655 | G | GTTTTGTT others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0001g0012 a0001c0001t0007g0059 a0001c0001t0009g0080 others(4): Show |
7 | 135 | 0.0519 | 28 | c.96- others(45): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54141086 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 82 | 0.0122 | 28 | c.204 others(47): 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(21): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0021 | 1 | 82 | 0.0122 | 28 | c.204 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0086 | 1 | 16 | 0.0625 | 28 | c.204 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54249558 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03516.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0008a0001c0021 | a0001c0001t0001a0001c0008t0001a0001c0021t0002 | a0001c0001t0001g0035 a0001c0008t0001g0092 a0001c0021t0002g0023 |
3 | 50 | 0.0600 | 28 | c.205 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0044 | 1 | 33 | 0.0303 | 28 | c.205 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 23 | 0.0435 | 28 | c.321 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54478660 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0057 | 1 | 37 | 0.0270 | 28 | c.382 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54500504 | T | TCTTCCTT others(21): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0031 | 1 | 56 | 0.0179 | 28 | c.382 others(45): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 64 | 0.0156 | 28 | c.139 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 64 | 0.0156 | 28 | c.139 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54883799 | A | ATCTCTCT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0042 | a0001c0002t0001a0001c0003t0001a0001c0042t0001 | a0001c0002t0001g0082 a0001c0003t0001g0094 a0001c0003t0001g0112 others(1): Show |
4 | 69 | 0.0580 | 28 | c.191 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55019079 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0061 a0001c0014t0001g0102 |
2 | 63 | 0.0317 | 28 | c.298 others(45): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18325689 | C | CCCTCCCT others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0002a0001c0002t0014 | a0001c0001t0020g0014 a0001c0002t0002g0095 a0001c0002t0002g0140 others(2): Show |
5 | 159 | 0.0314 | 28 | c.214 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18325689 | C | CCCTCCCT others(21): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 155 | 0.0065 | 28 | c.214 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18443018 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0076 | 1 | 161 | 0.0062 | 28 | c.333 others(47): 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(21): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 66 | 0.0152 | 28 | c.334 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18536243 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0009 | 1 | 94 | 0.0106 | 28 | c.130 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18443018 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01928.hp2 HG03704.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0034a0001c0002t0002others(1): Show | a0001c0001t0001g0169 a0001c0001t0034g0196 a0001c0002t0002g0108 others(1): Show |
4 | 233 | 0.0172 | 28 | c.171 others(47): 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(21): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 | 1 | 98 | 0.0102 | 28 | c.172 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 140 | 0.0071 | 28 | c.114 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36679193 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 169 | 0.0059 | 28 | c.211 others(47): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36679197 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 152 | 0.0066 | 28 | c.211 others(47): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703779 | C | CTCTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0082a0001c0001t0097 | a0001c0001t0082g0180 a0001c0001t0097g0195 |
2 | 202 | 0.0099 | 28 | c.-12 others(39): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 28 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36706192 | C | CTTCTTCT others(21): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0100 | 1 | 212 | 0.0047 | 28 | c.-36 others(39): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2441 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24312955 | G | GAAAGAAA others(21): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 196 | 0.0051 | 28 | c.212 others(47): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24313073 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0003g0106 |
2 | 103 | 0.0194 | 28 | c.212 others(47): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG5_chr17_66830117_66899751 | 66838960 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0122a0001c0001t0123others(1): Show | a0001c0001t0028g0020 a0001c0001t0122g0294 a0001c0001t0123g0293 others(1): Show |
5 | 65 | 0.0769 | 28 | c.-10 others(47): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54006517 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0252 | 1 | 69 | 0.0145 | 28 | c.545 others(45): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |