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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNB2_chr10_18135424_18548557 | 18545868 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show |
138 | 142 | 0.9718 | 8 | c.*61 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2312 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18335784 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG03225.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0007g0003 a0001c0002t0002g0293 others(1): Show |
4 | 33 | 0.1212 | 8 | c.-51 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4924 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18356938 | A | ATGTCTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0001g0174 a0001c0001t0003g0208 a0001c0001t0003g0209 others(13): Show |
16 | 199 | 0.0804 | 8 | c.51+ others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18358497 | G | GCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18967.hp1 NA18975.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0013a0001c0002t0042others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0171 others(3): Show |
6 | 192 | 0.0313 | 8 | c.51+ others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18407109 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02622.hp1 HG03239.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0001g0095 a0001c0001t0001g0284 a0001c0001t0003g0265 others(13): Show |
16 | 64 | 0.2500 | 8 | c.171 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18426955 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01361.hp1 HG01934.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0058 a0001c0001t0001g0072 others(14): Show |
17 | 39 | 0.4359 | 8 | c.171 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481192 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02818.hp1 HG03942.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0021a0001c0002t0002others(1): Show | a0001c0001t0001g0006 a0001c0001t0021g0004 a0001c0002t0002g0055 others(2): Show |
5 | 243 | 0.0206 | 8 | c.172 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18495591 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG01258.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0050others(2): Show | a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0049 others(5): Show |
8 | 290 | 0.0276 | 8 | c.172 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18545868 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(216): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(45): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(216): Show |
219 | 226 | 0.9690 | 8 | c.*61 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2312 | chr10 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151878550 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0033 | a0001c0001t0004g0075 a0001c0001t0014g0046 a0001c0001t0033g0083 |
3 | 15 | 0.2000 | 8 | c.391 others(25): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151957257 | C | CGTGTATG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02976.hp2 HG03579.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0077 a0001c0001t0004g0031 a0001c0001t0008g0010 others(6): Show |
9 | 40 | 0.2250 | 8 | c.148 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151957257 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01978.hp2 HG02148.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0002t0003others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0131 others(7): Show |
10 | 41 | 0.2439 | 8 | c.148 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151960183 | G | GTACCTCT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0027 | a0001c0001t0005g0037 a0001c0003t0027g0032 |
2 | 230 | 0.0087 | 8 | c.148 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152004532 | T | TACATACA others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02896.hp2 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0015a0001c0003t0016 | a0001c0003t0007g0089 a0001c0003t0015g0087 a0001c0003t0016g0088 |
3 | 8 | 0.3750 | 8 | c.147 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152018806 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00639.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0085 others(45): Show |
48 | 105 | 0.4571 | 8 | c.147 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152035630 | C | CCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00735.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0105 a0001c0001t0001g0108 others(46): Show |
49 | 157 | 0.3121 | 8 | c.147 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152035651 | C | CTCTATAT others(1): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032 | a0001c0001t0031g0208 a0001c0001t0032g0074 |
2 | 119 | 0.0168 | 8 | c.147 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152035651 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02165.hp2 HG02698.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0104 a0001c0001t0001g0127 others(6): Show |
9 | 126 | 0.0714 | 8 | c.147 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152035651 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01256.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0103 a0001c0001t0001g0110 others(19): Show |
22 | 139 | 0.1583 | 8 | c.147 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152088140 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02145.hp1 HG02976.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0072 a0001c0001t0004g0086 a0001c0001t0005g0198 others(8): Show |
11 | 76 | 0.1447 | 8 | c.147 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36613156 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02135.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0052 a0001c0001t0002g0075 a0001c0001t0002g0079 others(5): Show |
8 | 51 | 0.1569 | 8 | c.212 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36621609 | G | GTGTGTAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0050 others(47): Show |
50 | 212 | 0.2358 | 8 | c.212 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36627279 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0096 | a0001c0001t0042g0032 a0001c0001t0096g0196 |
2 | 44 | 0.0455 | 8 | c.212 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36643466 | A | ATCTGTCT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01069.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0025 others(29): Show |
33 | 157 | 0.2102 | 8 | c.212 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36643474 | G | GTCTGTCT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0059 | a0001c0001t0047g0012 a0001c0001t0059g0112 |
2 | 150 | 0.0133 | 8 | c.212 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36655736 | C | CTCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02451.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012a0001c0001t0019others(16): Show | a0001c0001t0011g0101 a0001c0001t0012g0150 a0001c0001t0019g0033 others(16): Show |
19 | 182 | 0.1044 | 8 | c.211 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36670631 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01516.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0023others(4): Show | a0001c0001t0002g0041 a0001c0001t0012g0173 a0001c0001t0023g0131 others(4): Show |
7 | 212 | 0.0330 | 8 | c.211 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36676932 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(4): Show | a0001c0001t0001g0037 a0001c0001t0008g0177 a0001c0001t0008g0178 others(5): Show |
8 | 38 | 0.2105 | 8 | c.211 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36679197 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02280.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0072a0001c0001t0079others(1): Show | a0001c0001t0011g0101 a0001c0001t0072g0148 a0001c0001t0079g0147 others(1): Show |
4 | 155 | 0.0258 | 8 | c.211 others(27): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36699237 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01496.hp1 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021a0001c0001t0025others(5): Show | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0021g0118 others(7): Show |
10 | 28 | 0.3571 | 8 | c.211 others(25): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703760 | G | GCTCGCTC others(1): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0022 | a0001c0001t0020g0102 a0001c0001t0022g0132 |
2 | 140 | 0.0143 | 8 | c.-11 others(19): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 9 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24257368 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG02071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0156 others(3): Show |
6 | 105 | 0.0571 | 8 | c.211 others(23): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24280821 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01069.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 others(27): Show |
30 | 107 | 0.2804 | 8 | c.211 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24303344 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03710.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0249 a0001c0001t0002g0317 a0001c0001t0004g0339 |
3 | 295 | 0.0102 | 8 | c.212 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24310565 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(180): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(178): Show |
183 | 360 | 0.5083 | 8 | c.212 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24312920 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01070.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0066 others(7): Show |
10 | 250 | 0.0400 | 8 | c.212 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24312955 | G | GAAAGAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00673.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0001g0051 a0001c0001t0001g0063 others(22): Show |
25 | 220 | 0.1136 | 8 | c.212 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24313073 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0021 others(67): Show |
71 | 172 | 0.4128 | 8 | c.212 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317554 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01891.hp2 HG02027.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0196 others(9): Show |
12 | 299 | 0.0401 | 8 | c.212 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317648 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01123.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0058 a0001c0001t0001g0074 others(27): Show |
30 | 238 | 0.1261 | 8 | c.212 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24327422 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02027.hp1 HG02135.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0057 others(20): Show |
23 | 252 | 0.0913 | 8 | c.212 others(27): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24351661 | C | CGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0032 others(51): Show |
54 | 213 | 0.2535 | 8 | c.296 others(25): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66965158 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0029 others(66): Show |
72 | 270 | 0.2667 | 8 | c.220 others(21): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66980620 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02071.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0113 a0001c0001t0001g0137 others(18): Show |
21 | 138 | 0.1522 | 8 | c.220 others(27): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG5_chr17_66830117_66899751 | 66862888 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0004a0001c0001t0007a0001c0001t0112others(2): Show | a0001c0001t0004g0338 a0001c0001t0007g0078 a0001c0001t0112g0028 others(2): Show |
5 | 305 | 0.0164 | 8 | c.-10 others(29): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG5_chr17_66830117_66899751 | 66862892 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0187 a0001c0001t0002g0270 a0001c0001t0002g0282 others(10): Show |
13 | 109 | 0.1193 | 8 | c.-10 others(29): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG5_chr17_66830117_66899751 | 66876979 | C | CTGAATGA others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0272 a0001c0001t0004g0224 a0001c0001t0006g0085 others(2): Show |
5 | 112 | 0.0446 | 8 | c.-10 others(25): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 53988271 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0042a0001c0002t0018a0001c0003t0002others(2): Show | a0001c0001t0042g0249 a0001c0002t0018g0272 a0001c0002t0018g0273 others(4): Show |
7 | 230 | 0.0304 | 8 | c.-46 others(19): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3365 | chr19 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54005210 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(170): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(151): Show |
173 | 257 | 0.6732 | 8 | c.544 others(25): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54006091 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01175.hp1 others(30): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0277 a0001c0001t0001g0294 a0001c0001t0001g0325 others(30): Show |
33 | 86 | 0.3837 | 8 | c.545 others(25): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |