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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABP7_chr22_29715003_29736833 | 29734827 | CGCCCCA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(79): Show | 256 | 438 | 0.5845 | -6 | c.*52 others(17): Show |
CABP7 | ENSG00000100314.4 | transcript | ENST00000216144.4 | protein_coding | 2995 | chr22 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133470189 | CTGTGTG | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0021others(10): Show | a0001c0001t0004g0001a0001c0001t0004g0003a0001c0001t0004g0025others(19): Show | 51 | 420 | 0.1214 | -6 | c.*15 others(17): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 5/5 | 1568 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
CACHD1_chr1_64465129_64698053 | 64477584 | GATTATT | G | intron_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0104a0001c0001t0001g0151 | 3 | 166 | 0.0181 | -6 | c.198 others(23): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64500732 | AAAAGAG | A | intron_variant | MODIFIER | HG00639.hp2 HG01255.hp1 HG01258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0113others(14): Show | 17 | 166 | 0.1024 | -6 | c.198 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64522569 | AGTGTTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(76): Show | 79 | 166 | 0.4759 | -6 | c.199 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64531495 | TTGTGTG | T | intron_variant | MODIFIER | HG01192.hp2 HG03540.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015 | a0001c0001t0001g0050a0001c0001t0007g0131a0001c0001t0015g0048 | 3 | 166 | 0.0181 | -6 | c.199 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64632256 | GAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp1 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0039others(71): Show | 74 | 166 | 0.4458 | -6 | c.645 others(21): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64640692 | GACACAC | G | intron_variant | MODIFIER | HG01255.hp1 HG02293.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0081a0001c0001t0001g0110a0001c0001t0001g0116others(4): Show | 7 | 166 | 0.0422 | -6 | c.100 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64675993 | TTAATAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0047a0001c0001t0001g0055others(26): Show | 29 | 166 | 0.1747 | -6 | c.297 others(21): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13206944 | GTTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01106.hp2 others(22): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0005a0001c0016others(17): Show | a0001c0001t0004a0001c0005t0004a0001c0005t0047others(18): Show | a0001c0001t0004g0013a0001c0001t0004g0017a0001c0001t0004g0155others(22): Show | 25 | 218 | 0.1147 | -6 | c.*36 others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 363 | chr19 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTG | C | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(86): Show |
a0001a0005a0011others(9): Show | a0001c0001a0001c0004a0001c0005others(42): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(62): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(86): Show | 89 | 218 | 0.4083 | -6 | c.697 others(15): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6970/7521 | 2324/2506 | chr19 | TogoVar | ||
CACNA1A_chr19_13201442_13511479 | 13208168 | AGGAGGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(95): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0005others(52): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(71): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(95): Show | 98 | 218 | 0.4495 | -6 | c.678 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 46/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13268893 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(75): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0005others(40): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(56): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0030others(75): Show | 78 | 218 | 0.3578 | -6 | c.399 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13310454 | CAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02451.hp2 others(6): Show |
a0001a0003a0017others(2): Show | a0001c0006a0001c0072a0001c0096others(6): Show | a0001c0006t0029a0001c0072t0037a0001c0096t0025others(6): Show | a0001c0006t0029g0136a0001c0072t0037g0213a0001c0096t0025g0003others(6): Show | 9 | 218 | 0.0413 | -6 | c.166 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13315196 | CTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01099.hp1 others(28): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0020a0001c0037others(23): Show | a0001c0001t0004a0001c0020t0001a0001c0037t0004others(25): Show | a0001c0001t0004g0155a0001c0020t0001g0051a0001c0037t0004g0021others(28): Show | 31 | 218 | 0.1422 | -6 | c.155 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 11/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13320237 | CGAGAGA | C | intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 NA19030.hp1 others(1): Show |
a0001a0002a0010 | a0001c0016a0002c0085a0010c0083 | a0001c0016t0004a0002c0085t0005a0010c0083t0014 | a0001c0016t0004g0047a0001c0016t0004g0074a0002c0085t0005g0085others(1): Show | 4 | 218 | 0.0184 | -6 | c.134 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13334555 | GTGTGTT | G | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02280.hp1 others(12): Show |
a0001a0003a0007others(5): Show | a0001c0004a0001c0005a0001c0006others(10): Show | a0001c0004t0001a0001c0005t0047a0001c0006t0005others(11): Show | a0001c0004t0001g0078a0001c0005t0047g0024a0001c0006t0005g0110others(12): Show | 15 | 218 | 0.0688 | -6 | c.108 others(21): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 7/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | GGAGAGA | G | intron_variant | MODIFIER | HG00423.hp1 HG01261.hp2 HG02109.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0098a0002c0002a0002c0114others(7): Show | a0001c0098t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0001c0098t0001g0112a0002c0002t0002g0130a0002c0002t0003g0181others(10): Show | 13 | 218 | 0.0596 | -6 | c.979 others(21): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13345895 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01952.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0020a0001c0120a0002c0003others(3): Show | a0001c0020t0001a0001c0120t0004a0002c0003t0003others(3): Show | a0001c0020t0001g0188a0001c0120t0004g0014a0002c0003t0003g0166others(3): Show | 6 | 218 | 0.0275 | -6 | c.979 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13365971 | CTATTAT | C | intron_variant | MODIFIER | HG00099.hp1 HG01934.hp2 HG04228.hp1 others(1): Show |
a0001a0004a0006others(1): Show | a0001c0006a0004c0007a0006c0011others(1): Show | a0001c0006t0008a0004c0007t0010a0006c0011t0002others(1): Show | a0001c0006t0008g0134a0004c0007t0010g0062a0006c0011t0002g0133others(1): Show | 4 | 218 | 0.0184 | -6 | c.632 others(21): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13388245 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(47): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0005others(35): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(39): Show | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0115others(47): Show | 50 | 218 | 0.2294 | -6 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13402807 | TATATAC | T | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03130.hp1 others(3): Show |
a0001a0002a0016others(1): Show | a0001c0005a0001c0006a0001c0037others(3): Show | a0001c0005t0047a0001c0006t0008a0001c0037t0004others(3): Show | a0001c0005t0047g0024a0001c0006t0008g0148a0001c0037t0004g0021others(3): Show | 6 | 218 | 0.0275 | -6 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13402871 | CACATAT | C | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 HG03516.hp1 others(1): Show |
a0004a0015a0017 | a0004c0007a0015c0021a0017c0040 | a0004c0007t0001a0015c0021t0004a0015c0021t0010others(1): Show | a0004c0007t0001g0049a0015c0021t0004g0044a0015c0021t0010g0045others(1): Show | 4 | 218 | 0.0184 | -6 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13402873 | CATATAT | C | intron_variant | MODIFIER | HG01123.hp2 HG02451.hp2 HG02809.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0005t0008a0001c0006t0029others(8): Show | a0001c0001t0001g0030a0001c0005t0008g0204a0001c0006t0029g0136others(9): Show | 12 | 218 | 0.0551 | -6 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13406465 | TTATATA | T | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01081.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0120a0002c0002a0003c0073others(4): Show | a0001c0120t0004a0002c0002t0003a0002c0002t0033others(6): Show | a0001c0120t0004g0014a0002c0002t0003g0181a0002c0002t0033g0082others(8): Show | 11 | 218 | 0.0505 | -6 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13413093 | GTTTTTT | G | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02976.hp2 others(3): Show |
a0001a0003a0016others(1): Show | a0001c0005a0003c0039a0016c0028others(1): Show | a0001c0005t0004a0001c0005t0005a0001c0005t0010others(3): Show | a0001c0005t0004g0201a0001c0005t0005g0135a0001c0005t0010g0202others(3): Show | 6 | 218 | 0.0275 | -6 | c.539 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13429167 | TACACAC | T | intron_variant | MODIFIER | HG02083.hp1 HG02109.hp1 HG02165.hp1 others(4): Show |
a0001a0003a0006others(4): Show | a0001c0004a0003c0105a0006c0011others(4): Show | a0001c0004t0001a0003c0105t0030a0006c0011t0002others(4): Show | a0001c0004t0001g0199a0003c0105t0030g0141a0006c0011t0002g0098others(4): Show | 7 | 218 | 0.0321 | -6 | c.539 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13433460 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(68): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0005others(48): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(61): Show | a0001c0001t0001g0128a0001c0001t0001g0193a0001c0001t0001g0194others(68): Show | 71 | 218 | 0.3257 | -6 | c.539 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13443338 | ATTTTAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(24): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0004t0032a0001c0005t0004others(21): Show | a0001c0001t0001g0050a0001c0001t0001g0193a0001c0001t0001g0194others(24): Show | 27 | 218 | 0.1239 | -6 | c.539 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13467971 | AGTGTGT | A | intron_variant | MODIFIER | HG02717.hp1 HG03471.hp2 HG03516.hp2 |
a0001a0003a0010 | a0001c0001a0003c0035a0010c0107 | a0001c0001t0001a0003c0035t0024a0010c0107t0021 | a0001c0001t0001g0025a0003c0035t0024g0005a0010c0107t0021g0004 | 3 | 218 | 0.0138 | -6 | c.294 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13482848 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(39): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0006a0001c0016others(35): Show | a0001c0001t0004a0001c0006t0005a0001c0016t0004others(37): Show | a0001c0001t0004g0017a0001c0001t0004g0218a0001c0006t0005g0110others(39): Show | 42 | 218 | 0.1927 | -6 | c.293 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13502157 | TAAAAAA | T | intron_variant | MODIFIER | HG00735.hp2 HG01256.hp2 HG01257.hp2 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(15): Show | a0001c0001t0005a0001c0004t0011a0001c0005t0005others(15): Show | a0001c0001t0005g0168a0001c0004t0011g0157a0001c0005t0005g0135others(16): Show | 19 | 218 | 0.0872 | -6 | c.293 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137940034 | TCAAACC | T | intron_variant | MODIFIER | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
a0008 | a0008c0019 | a0008c0019t0017a0008c0019t0025 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | 248 | 0.0121 | -6 | c.967 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138088959 | CAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(26): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0005others(8): Show | a0001c0002t0004a0001c0003t0007a0001c0003t0034others(11): Show | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0003t0007g0106others(26): Show | 29 | 248 | 0.1169 | -6 | c.509 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138108062 | TGCCCTG | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(59): Show |
a0001a0002a0019 | a0001c0002a0001c0003a0001c0005others(8): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0008others(15): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(59): Show | 62 | 248 | 0.2500 | -6 | c.542 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138129077 | GGGGTTA | G | downstream_gene_variant | MODIFIER | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
a0008 | a0008c0019 | a0008c0019t0017a0008c0019t0025 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | 248 | 0.0121 | -6 | c.*70 others(17): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4459 | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2056196 | AGTGTGT | A | intron_variant | MODIFIER | HG01358.hp2 HG02145.hp2 HG02257.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(7): Show | a0001c0001t0004g0038a0001c0001t0005g0042a0001c0001t0015g0034others(8): Show | 11 | 104 | 0.1058 | -6 | c.49+ others(21): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2067477 | TGTGTGC | T | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 |
a0001a0002 | a0001c0029a0002c0040 | a0001c0029t0019a0002c0040t0016 | a0001c0029t0019g0060a0002c0040t0016g0073 | 2 | 104 | 0.0192 | -6 | c.49+ others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2124109 | CGTGTGT | C | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01891.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0029a0001c0001t0003g0063a0001c0001t0004g0005others(34): Show | 37 | 104 | 0.3558 | -6 | c.477 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2177636 | CTTTCTT | C | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0013a0001c0006t0001a0001c0011t0014others(1): Show | a0001c0001t0013g0024a0001c0006t0001g0102a0001c0011t0014g0007others(1): Show | 4 | 104 | 0.0385 | -6 | c.477 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2226125 | GCACACA | G | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG01496.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0088a0001c0001t0002g0027a0001c0001t0003g0063others(20): Show | 23 | 104 | 0.2212 | -6 | c.477 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2261744 | AACACAC | A | intron_variant | MODIFIER | HG03225.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0043 | a0001c0001t0004g0008a0001c0001t0043g0032 | 2 | 104 | 0.0192 | -6 | c.477 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2277362 | GACACAC | G | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01891.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(8): Show | a0001c0001t0003g0063a0001c0001t0004g0005a0001c0001t0015g0034others(8): Show | 11 | 104 | 0.1058 | -6 | c.477 others(27): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2358251 | CTGTGTG | C | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01993.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0096a0001c0001t0004g0008a0001c0001t0005g0015others(11): Show | 14 | 104 | 0.1346 | -6 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2363731 | AGCCTCT | A | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01106.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0088a0001c0001t0002g0001a0001c0001t0004g0038others(40): Show | 43 | 104 | 0.4135 | -6 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2455348 | TTATAAG | T | intron_variant | MODIFIER | HG01071.hp1 HG01358.hp2 HG02257.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0013a0001c0001t0022a0001c0001t0028others(8): Show | a0001c0001t0013g0024a0001c0001t0022g0058a0001c0001t0028g0081others(8): Show | 11 | 104 | 0.1058 | -6 | c.618 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2491633 | AAGGAGG | A | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG02451.hp2 others(1): Show |
a0001a0003a0006 | a0001c0001a0001c0038a0003c0027others(1): Show | a0001c0001t0013a0001c0038t0041a0003c0027t0011others(1): Show | a0001c0001t0013g0024a0001c0038t0041g0047a0003c0027t0011g0013others(1): Show | 4 | 104 | 0.0385 | -6 | c.917 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2491962 | TTCTCTC | T | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01358.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(24): Show | a0001c0001t0001g0029a0001c0001t0005g0015a0001c0001t0005g0042others(32): Show | 35 | 104 | 0.3365 | -6 | c.917 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2491992 | CTCTCTT | C | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0004a0001c0001t0013a0002c0013t0016 | a0001c0001t0004g0104a0001c0001t0013g0014a0002c0013t0016g0022 | 3 | 104 | 0.0289 | -6 | c.917 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2602629 | CTTGTGT | C | intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 HG03471.hp2 |
a0001a0003 | a0001c0001a0001c0004a0003c0016 | a0001c0001t0015a0001c0004t0004a0003c0016t0011 | a0001c0001t0015g0030a0001c0004t0004g0086a0003c0016t0011g0082 | 3 | 104 | 0.0289 | -6 | c.296 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | chr12 | TogoVar |