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 | 2602630 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp2 others(36): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0029 a0001c0001t0002g0049 a0001c0001t0004g0008 others(36): Show |
39 | 104 | 0.3750 | -6 | c.296 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2646768 | AAGAGAG | A | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 HG02055.hp1 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0001t0003g0063 others(52): Show |
55 | 104 | 0.5289 | -6 | c.391 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2661310 | CACACAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01496.hp1 HG01993.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0022a0001c0003t0008others(4): Show | a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0022g0058 others(6): Show |
9 | 104 | 0.0865 | -6 | c.423 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2663735 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(20): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(12): Show | a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0017g0004 others(20): Show |
23 | 104 | 0.2212 | -6 | c.423 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53520894 | CTTTTCT | C | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG02071.hp2 others(16): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(15): Show | a0001c0001t0001g0175 a0001c0001t0002g0061 a0001c0001t0002g0122 others(16): Show |
19 | 210 | 0.0905 | -6 | c.483 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53586276 | CTGTGTG | C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0068a0001c0002t0006a0001c0002t0010others(3): Show | a0001c0001t0068g0001 a0001c0002t0006g0011 a0001c0002t0006g0180 others(7): Show |
10 | 210 | 0.0476 | -6 | c.484 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53648829 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG02572.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0007a0001c0002t0054a0001c0003t0001others(1): Show | a0001c0002t0007g0006 a0001c0002t0054g0005 a0001c0003t0001g0161 others(1): Show |
4 | 210 | 0.0191 | -6 | c.484 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53651366 | CTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0009a0001c0023 | a0001c0009t0017a0001c0009t0029a0001c0009t0056others(2): Show | a0001c0009t0017g0085 a0001c0009t0029g0185 a0001c0009t0056g0184 others(2): Show |
5 | 210 | 0.0238 | -6 | c.623 others(21): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 4/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53672758 | CTGTGTG | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01175.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0032others(9): Show | a0001c0001t0003g0081 a0001c0001t0004g0137 a0001c0001t0032g0012 others(10): Show |
13 | 210 | 0.0619 | -6 | c.111 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53672814 | GTGTGTA | G | intron_variant | MODIFIER | HG02723.hp1 HG03471.hp1 NA19240.hp1 |
a0001 | a0001c0009 | a0001c0009t0017a0001c0009t0029a0001c0009t0056 | a0001c0009t0017g0085 a0001c0009t0029g0185 a0001c0009t0056g0184 |
3 | 210 | 0.0143 | -6 | c.111 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53681904 | GAGGTAC | G | intron_variant | MODIFIER | HG01070.hp1 HG02109.hp1 HG02486.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0003a0001c0001t0014a0001c0002t0007others(12): Show | a0001c0001t0003g0113 a0001c0001t0014g0031 a0001c0002t0007g0006 others(15): Show |
18 | 210 | 0.0857 | -6 | c.122 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53713496 | GTGTGTA | G | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01074.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(8): Show | a0001c0001t0002g0091 a0001c0001t0004g0137 a0001c0001t0004g0207 others(15): Show |
18 | 210 | 0.0857 | -6 | c.139 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53717401 | TCCAGCA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(13): Show |
a0001 | a0001c0004a0001c0006a0001c0008others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(10): Show | a0001c0004t0001g0134 a0001c0004t0001g0154 a0001c0004t0002g0078 others(13): Show |
16 | 210 | 0.0762 | -6 | c.139 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53734016 | GTATATA | G | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0017a0001c0001t0046a0001c0002t0007others(8): Show | a0001c0001t0017g0110 a0001c0001t0046g0119 a0001c0002t0007g0006 others(10): Show |
13 | 210 | 0.0619 | -6 | c.268 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 20/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782260 | GTGTGTA | G | intron_variant | MODIFIER | HG03516.hp1 NA20300.hp2 |
a0001 | a0001c0008a0001c0021 | a0001c0008t0035a0001c0021t0035 | a0001c0008t0035g0010 a0001c0021t0035g0205 |
2 | 210 | 0.0095 | -6 | c.485 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782262 | GTGTATA | G | intron_variant | MODIFIER | HG01169.hp2 HG02896.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0007a0001c0005t0040 | a0001c0002t0007g0035 a0001c0005t0040g0108 |
2 | 210 | 0.0095 | -6 | c.485 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53788106 | AGAATAT | A | intron_variant | MODIFIER | HG02886.hp2 NA18994.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0036a0001c0004t0011 | a0001c0002t0036g0033 a0001c0004t0011g0145 |
2 | 210 | 0.0095 | -6 | c.498 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53798322 | TGTGTGC | T | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 NA18977.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0041a0001c0002t0028others(2): Show | a0001c0001t0002g0064 a0001c0001t0041g0125 a0001c0002t0028g0198 others(2): Show |
5 | 210 | 0.0238 | -6 | c.498 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53810781 | AAAAAAC | A | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0002a0001c0023 | a0001c0002t0007a0001c0002t0009a0001c0002t0034others(1): Show | a0001c0002t0007g0006 a0001c0002t0007g0035 a0001c0002t0009g0210 others(2): Show |
5 | 210 | 0.0238 | -6 | c.625 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 48/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181481335 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp1 NA18983.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0006a0002c0002t0013a0003c0003t0004others(2): Show | a0001c0001t0006g0123 a0002c0002t0013g0162 a0003c0003t0004g0124 others(2): Show |
5 | 206 | 0.0243 | -6 | c.-24 others(17): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2181 | chr1 | TogoVar | |||||||
CACNA1E_chr1_181478517_181813084 | 181516343 | CCACACA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00673.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0015others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0002g0126 a0001c0001t0003g0130 a0001c0001t0003g0134 others(23): Show |
26 | 206 | 0.1262 | -6 | c.512 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181583103 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0166 a0001c0001t0003g0044 a0001c0001t0003g0134 others(10): Show |
13 | 206 | 0.0631 | -6 | c.951 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181596557 | CGTGTGT | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02615.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0012a0001c0004t0008others(6): Show | a0001c0001t0002g0126 a0001c0001t0012g0100 a0001c0004t0008g0032 others(8): Show |
11 | 206 | 0.0534 | -6 | c.951 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181685230 | GTTTTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(19): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0016a0001c0001t0063a0001c0001t0070others(13): Show | a0001c0001t0016g0181 a0001c0001t0063g0026 a0001c0001t0070g0037 others(19): Show |
22 | 206 | 0.1068 | -6 | c.105 others(27): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181688991 | TTTTAAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(2): Show |
a0001a0006 | a0001c0004a0006c0023 | a0001c0004t0002a0001c0004t0004a0006c0023t0002 | a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 others(2): Show |
5 | 206 | 0.0243 | -6 | c.105 others(27): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181718611 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0166 a0001c0001t0003g0134 a0001c0001t0004g0146 others(23): Show |
26 | 206 | 0.1262 | -6 | c.163 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181779819 | TACACAC | T | intron_variant | MODIFIER | HG00597.hp2 NA18968.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003 | a0001c0001t0005g0089 a0002c0002t0003g0051 |
2 | 206 | 0.0097 | -6 | c.526 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1F_chrX_49200063_49238340 | 49200490 | GTTTGTT | G | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 290 | 0.0035 | -6 | c.*46 others(17): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 4572 | chrX | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1169212 | AACGTGG | A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
a0001a0003a0067 | a0001c0001a0003c0028a0067c0067 | a0001c0001t0001a0003c0028t0004a0067c0067t0020 | a0001c0001t0001g0322 a0003c0028t0004g0325 a0067c0067t0020g0323 |
3 | 338 | 0.0089 | -6 | c.299 others(25): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39566059 | ATGGTGG | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0014others(5): Show | a0001c0001t0008a0001c0008t0004a0001c0008t0007others(7): Show | a0001c0001t0008g0131 a0001c0008t0004g0132 a0001c0008t0007g0135 others(8): Show |
11 | 236 | 0.0466 | -6 | c.-46 others(17): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4693 | chr22 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39574664 | ATAGTAG | A | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(9): Show |
a0005a0011a0028 | a0005c0006a0011c0015a0028c0062 | a0005c0006t0006a0005c0006t0060a0011c0015t0005others(3): Show | a0005c0006t0006g0096 a0005c0006t0006g0097 a0005c0006t0006g0098 others(9): Show |
12 | 236 | 0.0509 | -6 | c.236 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39599618 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0162 a0001c0001t0003g0122 a0001c0001t0003g0151 others(37): Show |
40 | 236 | 0.1695 | -6 | c.349 others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39601961 | CTTTCTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0018others(9): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0036others(12): Show | a0001c0001t0003g0023 a0001c0001t0004g0065 a0001c0001t0036g0086 others(23): Show |
26 | 236 | 0.1102 | -6 | c.482 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39646527 | ATCCCTG | A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02559.hp2 others(4): Show |
a0001a0006a0025 | a0001c0001a0006c0011a0025c0039 | a0001c0001t0005a0001c0001t0052a0006c0011t0005others(1): Show | a0001c0001t0005g0007 a0001c0001t0005g0050 a0001c0001t0005g0118 others(4): Show |
7 | 236 | 0.0297 | -6 | c.115 others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39686627 | CATATAT | C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02055.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0021others(5): Show | a0001c0001t0008a0001c0001t0021a0001c0002t0031others(7): Show | a0001c0001t0008g0008 a0001c0001t0008g0131 a0001c0001t0008g0139 others(13): Show |
16 | 236 | 0.0678 | -6 | c.*24 others(15): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 243 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01928.hp2 HG01952.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0128 a0001c0001t0001g0201 a0001c0001t0001g0217 others(7): Show |
10 | 314 | 0.0319 | -6 | c.*40 others(17): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201045987 | CAAAATA | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(47): Show |
a0002a0007a0009others(9): Show | a0002c0008a0002c0010a0002c0012others(22): Show | a0002c0008t0001a0002c0010t0001a0002c0012t0001others(23): Show | a0002c0008t0001g0013 a0002c0008t0001g0038 a0002c0008t0001g0041 others(46): Show |
50 | 314 | 0.1592 | -6 | c.466 others(25): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201068231 | CTTTTTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
a0001a0025 | a0001c0009a0001c0017a0025c0061 | a0001c0009t0001a0001c0017t0001a0025c0061t0001 | a0001c0009t0001g0006 a0001c0009t0001g0264 a0001c0009t0001g0265 others(2): Show |
6 | 314 | 0.0191 | -6 | c.255 others(23): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81978816 | ATATATT | A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00735.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0077 a0001c0001t0002g0103 a0001c0001t0002g0143 others(33): Show |
36 | 144 | 0.2500 | -6 | c.195 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82022222 | AACACAC | A | intron_variant | MODIFIER | HG01258.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0005 a0001c0001t0022g0117 |
2 | 144 | 0.0139 | -6 | c.114 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 12/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82045250 | TAAATAA | T | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0023 a0001c0001t0008g0083 a0001c0001t0011g0028 |
3 | 144 | 0.0208 | -6 | c.880 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82075707 | GTTTATA | G | intron_variant | MODIFIER | HG01433.hp1 HG02717.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0002t0001 | a0001c0001t0001g0077 a0001c0001t0020g0114 a0001c0002t0001g0026 |
3 | 144 | 0.0208 | -6 | c.658 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 7/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82080150 | CCTATAT | C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(112): Show |
115 | 144 | 0.7986 | -6 | c.658 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 7/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0141 a0001c0001t0006g0098 a0001c0001t0006g0138 others(3): Show |
6 | 144 | 0.0417 | -6 | c.527 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82105092 | AAAATAT | A | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0049 a0001c0001t0003g0086 a0001c0001t0009g0065 others(1): Show |
4 | 144 | 0.0278 | -6 | c.526 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82111292 | GTATATA | G | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01069.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0058 others(29): Show |
32 | 144 | 0.2222 | -6 | c.526 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82111422 | ATGTGTG | A | intron_variant | MODIFIER | HG01433.hp1 HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020 | a0001c0001t0001g0077 a0001c0001t0003g0076 a0001c0001t0020g0114 |
3 | 144 | 0.0208 | -6 | c.526 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82140964 | AAAAAAG | A | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01167.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0070 others(22): Show |
25 | 144 | 0.1736 | -6 | c.355 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82192399 | AATATAT | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(70): Show |
73 | 144 | 0.5069 | -6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82192460 | TTGTGTG | T | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01433.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0077 a0001c0001t0005g0101 a0001c0001t0005g0110 others(4): Show |
7 | 144 | 0.0486 | -6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar |