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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0042 | a0001c0001t0001a0001c0042t0001 | a0001c0001t0001g0104 a0001c0042t0001g0078 |
2 | 65 | 0.0308 | 15 | c.139 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54832011 | T | TCATACAC others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0055 | 1 | 33 | 0.0303 | 15 | c.139 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54967505 | T | TGCAAATA others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 116 | 0.0086 | 15 | c.245 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1820246 | C | CGGCGGGG others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0285 | 1 | 306 | 0.0033 | 15 | c.255 others(34): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1848762 | A | AATTATTA others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0015 | a0015c0040 | a0015c0040t0016 | a0015c0040t0016g0001 | 1 | 116 | 0.0086 | 15 | c.224 others(34): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1848778 | A | ATTATTAT others(8): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 316 | 0.0032 | 15 | c.224 others(34): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(8): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG01243.hp2 HG01943.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0025 a0001c0001t0003g0026 a0001c0001t0003g0047 others(11): Show |
14 | 98 | 0.1429 | 15 | c.121 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18171521 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 78 | 0.0128 | 15 | c.213 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18181562 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0055 | 1 | 33 | 0.0303 | 15 | c.213 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02486.hp1 HG02630.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0012a0001c0006t0048others(1): Show | a0001c0001t0001g0002 a0001c0001t0012g0125 a0001c0006t0048g0067 others(1): Show |
4 | 84 | 0.0476 | 15 | c.214 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18407109 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0093 a0001c0002t0005g0106 |
2 | 32 | 0.0625 | 15 | c.333 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18464418 | T | TTAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0033 | a0001c0001t0003g0044 a0001c0002t0033g0069 |
2 | 67 | 0.0299 | 15 | c.334 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18481231 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 179 | 0.0056 | 15 | c.334 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18495582 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 172 | 0.0058 | 15 | c.334 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18407109 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0061 a0001c0002t0004g0087 |
2 | 50 | 0.0400 | 15 | c.171 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TTAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0277 a0001c0002t0002g0271 |
2 | 99 | 0.0202 | 15 | c.172 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18481231 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19005.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0065a0001c0002t0002 | a0001c0001t0065g0242 a0001c0002t0002g0217 |
2 | 262 | 0.0076 | 15 | c.172 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18495582 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0091 a0001c0001t0007g0251 |
2 | 267 | 0.0075 | 15 | c.172 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151878628 | A | ATTAGCTA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(203): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 others(203): Show |
206 | 223 | 0.9238 | 15 | c.391 others(32): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152062013 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02027.hp1 HG02027.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0134 a0001c0001t0004g0095 others(18): Show |
21 | 66 | 0.3182 | 15 | c.147 others(34): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36625026 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0022 a0001c0001t0002g0075 a0001c0001t0005g0110 others(10): Show |
13 | 66 | 0.1970 | 15 | c.212 others(34): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36706226 | C | CTCTTCTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(15): Show |
18 | 61 | 0.2951 | 15 | c.-36 others(26): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2475 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24312920 | G | GAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0314 a0001c0001t0002g0320 |
2 | 242 | 0.0083 | 15 | c.212 others(34): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24314733 | G | GCCTCCTC others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01346.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0100 others(11): Show |
14 | 148 | 0.0946 | 15 | c.212 others(34): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317648 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 209 | 0.0048 | 15 | c.212 others(34): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66990647 | C | CTTATTTT others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01515.hp2 HG01517.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0161 a0001c0001t0002g0160 a0001c0001t0002g0227 others(5): Show |
9 | 278 | 0.0324 | 15 | c.220 others(34): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG5_chr17_66830117_66899751 | 66838960 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01891.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0103 a0001c0001t0003g0091 a0001c0001t0004g0102 others(3): Show |
6 | 66 | 0.0909 | 15 | c.-10 others(34): Show |
CACNG5 | ENSG00000075429.9 | transcript | ENST00000533854.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54006517 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 69 | 0.0145 | 15 | c.545 others(32): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54006517 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0229 | 1 | 69 | 0.0145 | 15 | c.545 others(32): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0260 | 1 | 173 | 0.0058 | 15 | c.545 others(30): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54012735 | T | TCCCTCCA others(8): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(92): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0032 a0001c0001t0002g0082 a0001c0001t0002g0083 others(82): Show |
95 | 428 | 0.2220 | 15 | c.*54 others(24): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 70 | chr19 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54012758 | G | GAAACATA others(8): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG01192.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0002g0234 a0001c0001t0002g0340 a0001c0001t0003g0097 others(25): Show |
28 | 428 | 0.0654 | 15 | c.*56 others(24): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 93 | chr19 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54017628 | C | CTCTCTCT others(8): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG01516.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0234 a0001c0001t0003g0012 a0001c0001t0003g0381 others(16): Show |
20 | 214 | 0.0935 | 15 | c.*54 others(26): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 4963 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906025 | C | CCTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 358 | 0.0028 | 15 | c.-35 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3252 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906041 | C | CCCTCCTC others(8): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 a0001c0001t0001g0257 |
2 | 229 | 0.0087 | 15 | c.-35 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3236 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906063 | C | CCTTCTTC others(8): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 363 | 0.0028 | 15 | c.-34 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3214 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906069 | C | CCTTCTTC others(8): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 358 | 0.0028 | 15 | c.-34 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3208 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906078 | C | CCTTCTTC others(8): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 318 | 0.0031 | 15 | c.-34 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3199 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906081 | C | CCTTCTTC others(8): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0216 | 1 | 274 | 0.0036 | 15 | c.-34 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3196 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 124 | 0.0081 | 15 | c.-34 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0340 | 1 | 124 | 0.0081 | 15 | c.-34 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTTC others(8): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 124 | 0.0081 | 15 | c.-34 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTTCTTC others(8): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 124 | 0.0081 | 15 | c.-34 others(26): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115169206 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0048 | a0001c0001t0018g0028 a0001c0001t0048g0027 |
2 | 7 | 0.2857 | 15 | c.*72 others(26): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 29 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115206758 | C | CTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0037a0001c0001t0054 | a0001c0001t0014g0048 a0001c0001t0037g0064 a0001c0001t0054g0016 |
3 | 6 | 0.5000 | 15 | c.107 others(34): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 8/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115206758 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0133 a0001c0001t0012g0070 |
2 | 5 | 0.4000 | 15 | c.107 others(34): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 8/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115404346 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0020 | 1 | 113 | 0.0088 | 15 | c.124 others(34): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 84984356 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0011 | a0001c0001t0002g0138 a0001c0002t0011g0143 |
2 | 17 | 0.1176 | 15 | c.61+ others(32): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85000121 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0002 | 1 | 146 | 0.0068 | 15 | c.61+ others(32): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85027109 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0009 a0001c0001t0013g0010 a0001c0001t0013g0011 |
3 | 26 | 0.1154 | 15 | c.61+ others(32): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |