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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0025 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0104 a0001c0001t0001g0151 |
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 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 others(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 |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0050 a0001c0001t0007g0131 a0001c0001t0015g0048 |
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 |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0039 others(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 | a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0116 others(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 | a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0055 others(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 | a0001c0001a0001c0005a0001c0015others(17): Show | a0001c0001t0004a0001c0005t0004a0001c0005t0047others(18): Show | a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0155 others(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 |
a0001a0005a0010others(10): Show | a0001c0001a0001c0003a0001c0005others(44): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(63): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(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(18): Show | a0001c0001a0001c0003a0001c0005others(54): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(72): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(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(21): Show | a0001c0001a0001c0003a0001c0005others(44): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(57): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(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 |
a0001a0003a0016others(2): Show | a0001c0006a0001c0071a0001c0098others(6): Show | a0001c0006t0029a0001c0071t0037a0001c0098t0025others(6): Show | a0001c0006t0029g0136 a0001c0071t0037g0213 a0001c0098t0025g0003 others(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 | a0001c0001a0001c0019a0001c0035others(23): Show | a0001c0001t0004a0001c0019t0001a0001c0035t0004others(25): Show | a0001c0001t0004g0155 a0001c0019t0001g0051 a0001c0035t0004g0021 others(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 |
a0001a0002a0009 | a0001c0015a0002c0085a0009c0082 | a0001c0015t0004a0002c0085t0005a0009c0082t0014 | a0001c0015t0004g0047 a0001c0015t0004g0074 a0002c0085t0005g0085 others(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 |
a0001a0003a0006others(6): Show | a0001c0003a0001c0005a0001c0006others(10): Show | a0001c0003t0001a0001c0005t0047a0001c0006t0005others(11): Show | a0001c0003t0001g0078 a0001c0005t0047g0024 a0001c0006t0005g0110 others(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 | a0001c0100a0002c0002a0002c0119others(7): Show | a0001c0100t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0001c0100t0001g0112 a0002c0002t0002g0130 a0002c0002t0003g0181 others(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 | a0001c0019a0001c0125a0002c0004others(3): Show | a0001c0019t0001a0001c0125t0004a0002c0004t0003others(3): Show | a0001c0019t0001g0188 a0001c0125t0004g0014 a0002c0004t0003g0166 others(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 |
a0001a0004a0007others(1): Show | a0001c0006a0004c0007a0007c0008others(1): Show | a0001c0006t0008a0004c0007t0010a0007c0008t0002others(1): Show | a0001c0006t0008g0134 a0004c0007t0010g0062 a0007c0008t0002g0125 others(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(13): Show | a0001c0001a0001c0003a0001c0005others(36): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(40): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0115 others(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 |
a0001a0002a0012others(1): Show | a0001c0005a0001c0006a0001c0035others(3): Show | a0001c0005t0047a0001c0006t0008a0001c0035t0004others(3): Show | a0001c0005t0047g0024 a0001c0006t0008g0148 a0001c0035t0004g0021 others(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 |
a0004a0016a0020 | a0004c0007a0016c0038a0020c0020 | a0004c0007t0001a0016c0038t0001a0020c0020t0004others(1): Show | a0004c0007t0001g0049 a0016c0038t0001g0008 a0020c0020t0004g0044 others(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 | a0001c0001t0001g0030 a0001c0005t0008g0204 a0001c0006t0029g0136 others(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 | a0001c0125a0002c0002a0003c0072others(4): Show | a0001c0125t0004a0002c0002t0003a0002c0002t0033others(6): Show | a0001c0125t0004g0014 a0002c0002t0003g0181 a0002c0002t0033g0082 others(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 | a0001c0005a0003c0037a0016c0038others(1): Show | a0001c0005t0004a0001c0005t0005a0001c0005t0010others(3): Show | a0001c0005t0004g0201 a0001c0005t0005g0135 a0001c0005t0010g0202 others(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 | a0001c0003a0003c0107a0006c0009others(4): Show | a0001c0003t0001a0003c0107t0030a0006c0009t0038others(4): Show | a0001c0003t0001g0199 a0003c0107t0030g0141 a0006c0009t0038g0153 others(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(25): Show | a0001c0001a0001c0003a0001c0005others(52): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(63): Show | a0001c0001t0001g0128 a0001c0001t0001g0193 a0001c0001t0001g0194 others(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(13): Show | a0001c0001a0001c0003a0001c0005others(18): Show | a0001c0001t0001a0001c0003t0032a0001c0005t0004others(21): Show | a0001c0001t0001g0050 a0001c0001t0001g0193 a0001c0001t0001g0194 others(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 |
a0001a0003a0009 | a0001c0001a0003c0033a0009c0110 | a0001c0001t0001a0003c0033t0024a0009c0110t0021 | a0001c0001t0001g0025 a0003c0033t0024g0005 a0009c0110t0021g0004 |
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 | a0001c0001a0001c0006a0001c0015others(35): Show | a0001c0001t0004a0001c0006t0005a0001c0015t0004others(37): Show | a0001c0001t0004g0017 a0001c0001t0004g0218 a0001c0006t0005g0110 others(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(8): Show | a0001c0003a0001c0005a0001c0006others(15): Show | a0001c0003t0011a0001c0005t0005a0001c0006t0008others(15): Show | a0001c0003t0011g0157 a0001c0005t0005g0135 a0001c0006t0008g0217 others(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 |
a0001 | a0001c0018 | a0001c0018t0017a0001c0018t0025 | a0001c0018t0017g0124 a0001c0018t0017g0125 a0001c0018t0025g0126 |
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 | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0004a0001c0003t0007a0001c0003t0034others(12): Show | a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0003t0007g0106 others(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 |
a0001a0002a0009others(3): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0008others(17): Show | a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(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 |
a0001 | a0001c0018 | a0001c0018t0017a0001c0018t0025 | a0001c0018t0017g0124 a0001c0018t0017g0125 a0001c0018t0025g0126 |
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 | a0001c0001t0004g0038 a0001c0001t0005g0042 a0001c0001t0015g0034 others(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 | a0001c0029a0002c0041 | a0001c0029t0019a0002c0041t0016 | a0001c0029t0019g0060 a0002c0041t0016g0073 |
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 | a0001c0001t0001g0029 a0001c0001t0003g0063 a0001c0001t0004g0005 others(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 | a0001c0001t0013g0024 a0001c0006t0001g0102 a0001c0011t0014g0007 others(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 | a0001c0001t0001g0088 a0001c0001t0002g0027 a0001c0001t0003g0063 others(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 | a0001c0001t0004g0008 a0001c0001t0043g0032 |
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 | a0001c0001t0003g0063 a0001c0001t0004g0005 a0001c0001t0015g0034 others(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 | a0001c0001t0002g0096 a0001c0001t0004g0008 a0001c0001t0005g0015 others(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 | a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0004g0038 others(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 | a0001c0001t0013g0024 a0001c0001t0022g0058 a0001c0001t0028g0081 others(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 | a0001c0001a0001c0039a0003c0027others(1): Show | a0001c0001t0013a0001c0039t0041a0003c0027t0011others(1): Show | a0001c0001t0013g0024 a0001c0039t0041g0047 a0003c0027t0011g0013 others(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 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(25): Show | a0001c0001t0001g0029 a0001c0001t0005g0015 a0001c0001t0005g0042 others(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 | a0001c0001t0004g0104 a0001c0001t0013g0014 a0002c0013t0016g0022 |
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 | a0001c0001t0015g0030 a0001c0004t0004g0086 a0003c0016t0011g0082 |
3 | 104 | 0.0289 | -6 | c.296 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | chr12 | TogoVar |