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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 173 | 0.0058 | 30 | c.*57 others(41): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 173 | 0.0058 | 30 | c.*57 others(41): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004708 | G | GCGATGAT others(23): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0033 | a0033c0036 | a0033c0036t0001 | a0033c0036t0001g0265 | 1 | 343 | 0.0029 | 30 | c.963 others(47): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 120969306 | G | GAAGTCTT others(23): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01981.hp2 others(25): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0016a0003c0004others(6): Show | a0001c0001t0001a0001c0016t0001a0003c0004t0001others(6): Show | a0001c0001t0001g0228 a0001c0016t0001g0003 a0003c0004t0001g0018 others(23): Show |
28 | 274 | 0.1022 | 30 | c.416 others(47): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 32/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121024324 | A | AGGGGGAG others(23): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 223 | 0.0045 | 30 | c.100 others(47): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | |||||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(23): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 105 | 0.0095 | 30 | c.-50 others(41): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147911208 | G | GTCTATTC others(23): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02280.hp2 HG03453.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0002c0003t0001a0003c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0027 a0002c0003t0001g0014 others(2): Show |
6 | 78 | 0.0769 | 30 | c.-47 others(41): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4671 | chr5 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0226 | 1 | 113 | 0.0088 | 30 | c.216 others(47): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016738 | C | CCAGTGCA others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0287 a0001c0001t0014g0156 |
2 | 263 | 0.0076 | 30 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016782 | A | ACGCCAGT others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0100 a0001c0001t0003g0205 a0001c0001t0003g0206 others(4): Show |
7 | 297 | 0.0236 | 30 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059904 | A | AGGCGGGT others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01928.hp2 HG01934.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0044 a0001c0001t0002g0216 a0001c0001t0002g0226 others(9): Show |
12 | 243 | 0.0494 | 30 | c.130 others(49): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059971 | G | GTAGTGGG others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02809.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020 | a0001c0001t0001g0100 a0001c0001t0002g0209 a0001c0001t0020g0001 |
3 | 39 | 0.0769 | 30 | c.130 others(49): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1060001 | T | TTAGTGGG others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01074.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0026 | a0001c0001t0007g0118 a0001c0001t0007g0126 a0001c0001t0007g0131 others(15): Show |
18 | 299 | 0.0602 | 30 | c.130 others(49): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1060034 | G | GTAGTGAG others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03225.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0012g0292 |
3 | 188 | 0.0160 | 30 | c.130 others(49): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C8A_chr1_56849797_56923223 | 56885317 | T | TATATATT others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 364 | 0.0027 | 30 | c.856 others(45): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885429 | T | TAAATATA others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 339 | 0.0059 | 30 | c.856 others(45): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885429 | T | TAAATATA others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02717.hp1 others(6): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0001c0001t0003a0003c0003t0002others(1): Show | a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0003g0073 others(6): Show |
9 | 346 | 0.0260 | 30 | c.856 others(45): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68376184 | C | CATAAAAT others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(6): Show | a0001c0001t0001g0031 a0001c0001t0001g0116 a0001c0001t0006g0127 others(7): Show |
10 | 44 | 0.2273 | 30 | c.327 others(49): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68466765 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02622.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0018 | a0001c0001t0001a0002c0003t0001a0004c0018t0007 | a0001c0001t0001g0015 a0001c0001t0001g0099 a0001c0001t0001g0100 others(3): Show |
6 | 115 | 0.0522 | 30 | c.608 others(47): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68774327 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0041 | 1 | 81 | 0.0123 | 30 | c.140 others(49): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68774944 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 48 | 0.0208 | 30 | c.140 others(49): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf88_chr8_90953471_90990238 | 90968657 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02132.hp2 HG02148.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048 a0001c0001t0001g0160 a0001c0001t0001g0177 others(3): Show |
7 | 102 | 0.0686 | 30 | c.223 others(47): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 4/5 | chr8 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39282138 | T | TTTTCTTT others(23): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA18943.hp2 NA18953.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0005 | a0001c0001t0001g0001 a0001c0001t0001g0155 a0001c0001t0001g0254 others(2): Show |
6 | 200 | 0.0300 | 30 | c.*30 others(41): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 2001 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39333554 | A | ATCTCCCT others(23): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0310 | 1 | 263 | 0.0038 | 30 | c.477 others(47): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39359102 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0358 | 1 | 78 | 0.0128 | 30 | c.77+ others(45): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110209892 | A | AAAGAAAA others(23): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 62 | 0.0161 | 30 | c.-23 others(41): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1734 | chr9 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110209892 | A | AAAGAGAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01255.hp2 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0024 others(14): Show |
26 | 87 | 0.2989 | 30 | c.-23 others(41): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1734 | chr9 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110209936 | A | AGAAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0157 | 1 | 458 | 0.0022 | 30 | c.-23 others(41): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1778 | chr9 | TogoVar | |||||||
C9orf153_chr9_86215265_86264657 | 86231600 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02615.hp1 HG02717.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0009 | a0002c0002t0005g0184 a0002c0002t0005g0246 a0002c0002t0005g0247 others(3): Show |
6 | 375 | 0.0160 | 30 | c.-26 others(47): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
C9orf72_chr9_27541546_27578481 | 27573523 | C | CGCCCCGG others(23): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0009a0001c0001t0017others(2): Show | a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0040 others(25): Show |
35 | 41 | 0.8537 | 30 | c.-13 others(39): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 43 | chr9 | TogoVar | |||||||
CA12_chr15_63316378_63386846 | 63376600 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 221 | 0.0045 | 30 | c.86- others(43): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87937801 | T | TTCTTTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 393 | 0.0025 | 30 | c.-13 others(41): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1273 | chr16 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60190938 | C | CACTATAT others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02895.hp1 HG03540.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0040a0002c0004t0019 | a0001c0002t0040g0047 a0002c0004t0019g0203 a0002c0004t0019g0204 |
3 | 255 | 0.0118 | 30 | c.*36 others(45): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 NA20129.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0006a0001c0005t0021 | a0001c0003t0006g0139 a0001c0003t0006g0147 a0001c0005t0021g0019 |
3 | 205 | 0.0146 | 30 | c.*36 others(45): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0049others(2): Show | a0001c0001t0002g0227 a0001c0001t0002g0299 a0001c0001t0002g0306 others(11): Show |
14 | 216 | 0.0648 | 30 | c.*36 others(45): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02258.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0012a0001c0002t0041 | a0001c0001t0018g0137 a0001c0002t0012g0110 a0001c0002t0041g0125 |
3 | 205 | 0.0146 | 30 | c.*36 others(45): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0132 | 1 | 203 | 0.0049 | 30 | c.*36 others(45): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CAAP1_chr9_26835685_26897802 | 26872553 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0028 | 1 | 318 | 0.0031 | 30 | c.666 others(49): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 4/5 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49346085 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03490.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0094 a0001c0001t0001g0239 a0001c0001t0002g0319 others(1): Show |
4 | 309 | 0.0129 | 30 | c.565 others(47): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49346100 | G | GAGATATA others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01168.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0204 a0001c0002t0003g0013 |
2 | 164 | 0.0122 | 30 | c.565 others(47): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49346100 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01981.hp1 HG02148.hp2 others(17): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0002 | a0001c0002t0001g0072 a0001c0002t0001g0085 a0001c0002t0001g0089 others(17): Show |
20 | 182 | 0.1099 | 30 | c.565 others(47): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230782809 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 246 | 0.0041 | 30 | c.115 others(47): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62397916 | A | AGTGGTGA others(23): Show |
intron_variant | MODIFIER | HG02602.hp2 NA20905.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0036 | 2 | 357 | 0.0056 | 30 | c.363 others(47): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62397979 | G | GATGGCGG others(23): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 2 | 395 | 0.0051 | 30 | c.363 others(47): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62398088 | A | ATGGTGGT others(23): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0152 |
2 | 291 | 0.0069 | 30 | c.363 others(47): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62398097 | G | GTGACAGT others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0198 | 1 | 388 | 0.0026 | 30 | c.363 others(47): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48025655 | A | ACCTCCTT others(23): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01358.hp1 HG02055.hp2 others(22): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0004c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0022 others(18): Show |
25 | 374 | 0.0668 | 30 | c.*49 others(41): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 3727 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48028497 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0135 | 1 | 200 | 0.0050 | 30 | c.*20 others(41): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 885 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310515 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 19 | 0.0526 | 30 | c.166 others(49): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | G | GGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02273.hp2 |
a0004a0012 | a0004c0080a0012c0023 | a0004c0080t0001a0012c0023t0002 | a0004c0080t0001g0128 a0012c0023t0002g0187 |
2 | 48 | 0.0417 | 30 | c.979 others(45): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar |