regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACHD1_chr1_64465129_64698053 | 64697649 | GTTTGTTT | G | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02896.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0159a0001c0001t0002g0132others(3): Show | 6 | 166 | 0.0361 | -7 | c.*60 others(18): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 4597 | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13206944 | GTTTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(42): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0004a0001c0005others(23): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0032others(25): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(42): Show | 45 | 218 | 0.2064 | -7 | c.*36 others(16): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 362 | chr19 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13248409 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0001a0003a0044 | a0001c0037a0001c0038a0001c0106others(2): Show | a0001c0037t0004a0001c0038t0007a0001c0106t0001others(2): Show | a0001c0037t0004g0021a0001c0038t0007g0205a0001c0106t0001g0121others(2): Show | 5 | 218 | 0.0229 | -7 | c.486 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13268893 | CTTTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp2 HG02602.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0010a0002c0114others(3): Show | a0001c0006t0029a0002c0010t0002a0002c0114t0002others(3): Show | a0001c0006t0029g0136a0002c0010t0002g0064a0002c0114t0002g0192others(3): Show | 6 | 218 | 0.0275 | -7 | c.399 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13367294 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00735.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0026others(11): Show | a0001c0004t0001a0001c0004t0011a0001c0005t0005others(13): Show | a0001c0004t0001g0018a0001c0004t0001g0080a0001c0004t0001g0097others(15): Show | 18 | 218 | 0.0826 | -7 | c.632 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13410540 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01952.hp2 others(22): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0019a0001c0001t0001g0115a0001c0001t0001g0128others(22): Show | 25 | 218 | 0.1147 | -7 | c.540 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | TAAAAAAA | T | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp2 HG02109.hp2 others(13): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0005others(13): Show | a0001c0001t0001g0030a0001c0004t0001g0078a0001c0006t0005g0110others(13): Show | 16 | 218 | 0.0734 | -7 | c.539 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13446264 | AAAAAAGG | A | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01099.hp1 others(38): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0006others(33): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0047others(37): Show | a0001c0001t0001g0115a0001c0005t0001g0187a0001c0005t0047g0024others(38): Show | 41 | 218 | 0.1881 | -7 | c.539 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497522 | ATATATAT | A | intron_variant | MODIFIER | HG00438.hp1 HG01516.hp1 HG01981.hp1 |
a0003a0008a0011 | a0003c0054a0008c0008a0011c0025 | a0003c0054t0043a0008c0008t0002a0011c0025t0001 | a0003c0054t0043g0060a0008c0008t0002g0099a0011c0025t0001g0093 | 3 | 218 | 0.0138 | -7 | c.293 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137999233 | AAAAAAAT | A | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 HG03209.hp1 others(1): Show |
a0004a0005 | a0004c0023a0005c0038a0005c0039 | a0004c0023t0008a0004c0023t0042a0005c0038t0023others(1): Show | a0004c0023t0008g0077a0004c0023t0042g0076a0005c0038t0023g0020others(1): Show | 4 | 248 | 0.0161 | -7 | c.197 others(26): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138088959 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(51): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0005others(18): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0013others(26): Show | a0001c0002t0001g0035a0001c0002t0001g0057a0001c0002t0001g0058others(51): Show | 54 | 248 | 0.2177 | -7 | c.509 others(26): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2064437 | AGCTCTGT | A | intron_variant | MODIFIER | HG02523.hp1 NA18989.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0010a0001c0014 | a0001c0002t0001a0001c0010t0003a0001c0014t0039 | a0001c0002t0001g0094a0001c0010t0003g0054a0001c0014t0039g0095 | 3 | 104 | 0.0289 | -7 | c.49+ others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2227857 | TCTTACAA | T | intron_variant | MODIFIER | HG02896.hp1 HG03098.hp2 |
a0001a0006 | a0001c0003a0006c0028 | a0001c0003t0005a0006c0028t0006 | a0001c0003t0005g0031a0006c0028t0006g0072 | 2 | 104 | 0.0192 | -7 | c.477 others(28): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2232227 | GTTTTTTT | G | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02257.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(8): Show | a0001c0001t0004g0104a0001c0001t0005g0015a0001c0001t0015g0034others(8): Show | 11 | 104 | 0.1058 | -7 | c.477 others(28): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2331822 | GTTCTTTT | G | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01496.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0003g0063a0001c0001t0004g0005a0001c0001t0004g0038others(31): Show | 34 | 104 | 0.3269 | -7 | c.478 others(28): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2414068 | GCCCAAGT | G | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01106.hp1 others(22): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0088a0001c0001t0002g0001a0001c0001t0004g0008others(22): Show | 25 | 104 | 0.2404 | -7 | c.478 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2535704 | TAAAAAAA | T | intron_variant | MODIFIER | HG02273.hp2 HG02280.hp2 HG02647.hp2 others(6): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0003a0001c0001t0015a0001c0001t0021others(6): Show | a0001c0001t0003g0063a0001c0001t0015g0030a0001c0001t0021g0055others(6): Show | 9 | 104 | 0.0865 | -7 | c.139 others(28): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2602631 | TGTGTGTG | T | intron_variant | MODIFIER | HG01071.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0024a0001c0031t0002 | a0001c0001t0024g0080a0001c0031t0002g0021 | 2 | 104 | 0.0192 | -7 | c.296 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53520897 | TTCTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG01934.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0006a0001c0002t0015others(9): Show | a0001c0001t0002g0062a0001c0001t0002g0099a0001c0002t0006g0192others(10): Show | 13 | 210 | 0.0619 | -7 | c.483 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53531370 | TAGAATAG | T | intron_variant | MODIFIER | HG02735.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0002 | a0001c0001t0003g0096a0001c0004t0002g0050 | 2 | 210 | 0.0095 | -7 | c.483 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0024others(2): Show | a0001c0001t0067a0001c0002t0010a0001c0002t0034others(3): Show | a0001c0001t0067g0045a0001c0002t0010g0195a0001c0002t0034g0183others(3): Show | 6 | 210 | 0.0286 | -7 | c.122 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53806180 | TCCTCCTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(68): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0136others(68): Show | 71 | 210 | 0.3381 | -7 | c.580 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 46/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181793857 | AATATCTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0123a0001c0001t0006g0189 | 2 | 206 | 0.0097 | -7 | c.602 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201046167 | TTTATTTA | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(33): Show |
a0002a0007a0011others(6): Show | a0002c0008a0002c0010a0002c0012others(17): Show | a0002c0008t0001a0002c0010t0001a0002c0012t0001others(18): Show | a0002c0008t0001g0038a0002c0008t0001g0218a0002c0008t0001g0220others(32): Show | 36 | 314 | 0.1147 | -7 | c.466 others(24): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0062a0001c0001t0004g0021a0001c0001t0004g0022others(6): Show | 9 | 144 | 0.0625 | -7 | c.527 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82138426 | GTTTTGTT | G | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01261.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0039a0001c0001t0004g0071a0001c0001t0005g0106others(6): Show | 9 | 144 | 0.0625 | -7 | c.355 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82174042 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0005g0105a0001c0001t0005g0106a0001c0001t0007g0015others(4): Show | 7 | 144 | 0.0486 | -7 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | ATTTTTTT | A | intron_variant | MODIFIER | HG02683.hp2 HG02886.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0004g0029a0001c0001t0006g0112a0001c0001t0007g0059others(2): Show | 5 | 144 | 0.0347 | -7 | c.295 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82297072 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0037a0001c0001t0001g0038others(24): Show | 27 | 144 | 0.1875 | -7 | c.294 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82322451 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01496.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0051a0001c0001t0004g0050a0001c0001t0004g0053others(7): Show | 10 | 144 | 0.0694 | -7 | c.294 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50459909 | CCCTGCAG | C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0009others(1): Show | a0001c0001t0019a0001c0001t0022a0002c0003t0003others(4): Show | a0001c0001t0019g0031a0001c0001t0022g0097a0002c0003t0003g0032others(17): Show | 20 | 234 | 0.0855 | -7 | c.288 others(26): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50461757 | AAAAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(50): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0149a0001c0001t0001g0227others(50): Show | 53 | 234 | 0.2265 | -7 | c.288 others(26): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350979 | TTTGTTTG | T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0018 | a0001c0001t0001a0001c0003t0001a0001c0018t0001 | a0001c0001t0001g0010a0001c0003t0001g0011a0001c0003t0001g0094others(1): Show | 4 | 118 | 0.0339 | -7 | c.321 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54451229 | CTTTTTTT | C | intron_variant | MODIFIER | HG02300.hp1 HG02630.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0033a0001c0002t0002g0066a0001c0003t0001g0011others(1): Show | 4 | 118 | 0.0339 | -7 | c.382 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54484674 | TTTAATTG | T | intron_variant | MODIFIER | HG02622.hp2 HG03486.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0024a0001c0001t0001g0061a0001c0001t0012g0063 | 3 | 118 | 0.0254 | -7 | c.382 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54493060 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(22): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0080others(35): Show | 38 | 118 | 0.3220 | -7 | c.382 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54541295 | AAAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG01169.hp1 HG01255.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0097a0001c0001t0001g0107others(3): Show | 6 | 118 | 0.0509 | -7 | c.545 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54567505 | GGTTTTTT | G | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01123.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0034others(17): Show | 20 | 118 | 0.1695 | -7 | c.677 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54567510 | TTTGTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0035others(11): Show | 14 | 118 | 0.1186 | -7 | c.677 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54774629 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0004a0001c0005a0001c0006others(2): Show | a0001c0004t0001a0001c0005t0003a0001c0006t0007others(2): Show | a0001c0004t0001g0050a0001c0005t0003g0055a0001c0006t0007g0098others(2): Show | 5 | 118 | 0.0424 | -7 | c.138 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822820 | TTTCTTTC | T | intron_variant | MODIFIER | HG00438.hp1 NA19240.hp2 |
a0001 | a0001c0011a0001c0014 | a0001c0011t0001a0001c0014t0001 | a0001c0011t0001g0109a0001c0014t0001g0102 | 2 | 118 | 0.0170 | -7 | c.139 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54840403 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0089a0001c0002t0001g0039a0001c0007t0001g0043others(2): Show | 5 | 118 | 0.0424 | -7 | c.155 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55045792 | GTAATAGA | G | intron_variant | MODIFIER | HG01106.hp1 HG01255.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(7): Show | a0001c0001t0001g0016a0001c0002t0002g0066a0001c0002t0004g0001others(9): Show | 12 | 118 | 0.1017 | -7 | c.298 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55074387 | TATCTATC | T | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02300.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(2): Show | a0001c0001t0002g0003a0001c0001t0012g0063a0001c0002t0002g0066others(3): Show | 6 | 118 | 0.0509 | -7 | c.*18 others(16): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 38/38 | 186 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
CACNA2D3_chr3_54117552_55079557 | 55075311 | ATTGTTTG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0029 | a0001c0002t0002a0001c0004t0002a0001c0029t0001 | a0001c0002t0002g0066a0001c0002t0002g0091a0001c0004t0002g0008others(1): Show | 4 | 118 | 0.0339 | -7 | c.*11 others(18): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 755 | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1920362 | ATTTATTG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(298): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0039a0001c0001t0001g0078a0001c0001t0001g0081others(298): Show | 301 | 318 | 0.9465 | -7 | c.-18 others(18): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 1711 | chr12 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18150855 | CTTTTTTT | C | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01167.hp1 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0058a0001c0001t0003g0081a0001c0001t0003g0199others(9): Show | 12 | 200 | 0.0600 | -7 | c.121 others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18152726 | AAAAAAAC | A | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG01167.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(22): Show | 25 | 200 | 0.1250 | -7 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18184649 | GTTTTTTT | G | intron_variant | MODIFIER | HG00609.hp1 HG01192.hp1 HG01358.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0047others(2): Show | a0001c0001t0003g0080a0001c0001t0006g0028a0001c0001t0006g0134others(4): Show | 7 | 200 | 0.0350 | -7 | c.213 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18286517 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01257.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0066a0001c0001t0006g0005a0001c0001t0008g0063others(4): Show | 7 | 200 | 0.0350 | -7 | c.214 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |