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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C7orf50_chr7_992006_1143247 | 1023624 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG02132.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0102 a0001c0001t0028g0201 |
2 | 39 | 0.0513 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059526 | C | CGGGTCTT others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01074.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0026 | a0001c0001t0007g0118 a0001c0001t0007g0126 a0001c0001t0007g0131 others(15): Show |
18 | 323 | 0.0557 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059819 | G | GTAGTGGG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02109.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0209 a0001c0001t0002g0298 a0001c0001t0003g0293 others(27): Show |
30 | 324 | 0.0926 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059883 | G | GTAGTGAG others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 NA19079.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010 | a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0007g0118 others(1): Show |
4 | 298 | 0.0134 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059971 | G | GTAGTGGG others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(261): Show |
264 | 300 | 0.8800 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059986 | T | TTAGTGGG others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0293 a0002c0002t0003g0288 |
2 | 304 | 0.0066 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1060034 | G | GTAGTGAG others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp2 others(112): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0029 a0001c0001t0002g0213 a0001c0001t0002g0216 others(112): Show |
115 | 300 | 0.3833 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051817 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 232 | 0.0043 | 15 | c.606 others(30): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331770 | C | CTTTCCTT others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02698.hp2 HG02809.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0002c0003t0001g0021 others(1): Show |
4 | 119 | 0.0336 | 15 | c.327 others(30): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19240.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0102 a0002c0004t0001g0103 |
2 | 8 | 0.2500 | 15 | c.327 others(30): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68376184 | C | CATAAAAT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01071.hp1 others(35): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 others(35): Show |
38 | 72 | 0.5278 | 15 | c.327 others(34): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf74_chr8_10667628_10705590 | 10704003 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02486.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0002others(1): Show | a0001c0001t0001g0100 a0001c0001t0001g0226 a0002c0002t0002g0023 others(4): Show |
7 | 283 | 0.0247 | 15 | c.*35 others(26): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 3414 | chr8 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110198893 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0144 others(10): Show |
21 | 70 | 0.3000 | 15 | c.*20 others(26): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 667 | chr9 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110209892 | A | AAAGAGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00639.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0024 others(27): Show |
45 | 106 | 0.4245 | 15 | c.-23 others(26): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1734 | chr9 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110209936 | A | AGAAGAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0153 | 1 | 458 | 0.0022 | 15 | c.-23 others(26): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1778 | chr9 | TogoVar | |||||||
C9orf78_chr9_129822290_129840275 | 129824606 | A | AAATAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00621.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0002t0002a0001c0004t0003 | a0001c0001t0006g0029 a0001c0002t0002g0002 a0001c0002t0002g0010 others(8): Show |
58 | 295 | 0.1966 | 15 | c.*35 others(26): Show |
C9orf78 | ENSG00000136819.15 | transcript | ENST00000372447.7 | protein_coding | 2683 | chr9 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51707704 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 152 | 0.0066 | 15 | c.465 others(34): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51831690 | G | GCAGCAGC others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02109.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0002g0050 others(3): Show |
6 | 152 | 0.0395 | 15 | c.280 others(34): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 52160791 | A | ATTATTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0004g0072 others(2): Show |
5 | 116 | 0.0431 | 15 | c.-30 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2078 | chr17 | TogoVar | |||||||
CA12_chr15_63316378_63386846 | 63376557 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0159 | 1 | 147 | 0.0068 | 15 | c.86- others(28): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87926221 | T | TATAAAAT others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03491.hp2 HG03669.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0180 a0001c0002t0002g0259 a0001c0002t0002g0260 others(5): Show |
8 | 310 | 0.0258 | 15 | c.340 others(30): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87940803 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 289 | 0.0035 | 15 | c.-43 others(26): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 4275 | chr16 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8959931 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0306 | 1 | 207 | 0.0048 | 15 | c.501 others(30): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAAGAAG others(8): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0185 | 1 | 107 | 0.0093 | 15 | c.*29 others(26): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8977709 | A | AAAGAAAG others(8): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 450 | 0.0022 | 15 | c.*30 others(26): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2618 | chr1 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8977713 | A | AAAGAAAG others(8): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 NA18906.hp2 NA19076.hp1 |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0007 | a0001c0001t0013a0002c0003t0003a0004c0007t0001 | a0001c0001t0013g0169 a0002c0003t0003g0117 a0004c0007t0001g0209 |
3 | 446 | 0.0067 | 15 | c.*30 others(26): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2622 | chr1 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8977749 | A | AAAGAAAG others(8): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 450 | 0.0022 | 15 | c.*30 others(26): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2658 | chr1 | TogoVar | |||||||
CAAP1_chr9_26835685_26897802 | 26847198 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 17 | 0.0588 | 15 | c.740 others(32): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49346120 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0309 |
2 | 168 | 0.0119 | 15 | c.565 others(32): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230748827 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0253 | 1 | 307 | 0.0033 | 15 | c.-43 others(34): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230748831 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01952.hp1 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 a0001c0001t0002g0283 a0001c0001t0002g0287 |
3 | 151 | 0.0199 | 15 | c.-43 others(34): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748831 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0281 | 1 | 149 | 0.0067 | 15 | c.-43 others(34): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748831 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01255.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0294 a0001c0001t0011g0309 |
2 | 150 | 0.0133 | 15 | c.-43 others(34): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230783442 | A | AGTTTTGT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0042 a0001c0001t0001g0255 a0001c0001t0001g0257 others(67): Show |
70 | 78 | 0.8974 | 15 | c.115 others(32): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230825154 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0060 | a0001c0001t0055g0136 a0001c0001t0060g0024 |
2 | 160 | 0.0125 | 15 | c.*64 others(26): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 4080 | chr2 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230825704 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0054a0001c0001t0055 | a0001c0001t0003g0218 a0001c0001t0003g0236 a0001c0001t0054g0137 others(1): Show |
4 | 335 | 0.0119 | 15 | c.*70 others(26): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 4630 | chr2 | TogoVar | |||||||
CABCOCO1_chr10_61657929_61771766 | 61662996 | G | GGGGCCGA others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(344): Show |
363 | 372 | 0.9758 | 15 | c.38_ others(20): Show |
p.Ala others(26): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/8 | 83/1688 | 39/891 | 13/296 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
CABCOCO1_chr10_61657929_61771766 | 61663005 | C | CCCGGCAG others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18940.hp1 NA18963.hp2 NA18973.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0186 a0001c0004t0001g0188 a0001c0004t0001g0190 others(3): Show |
6 | 372 | 0.0161 | 15 | c.38_ others(20): Show |
p.Ala others(26): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/8 | 83/1688 | 39/891 | 13/296 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
CABCOCO1_chr10_61657929_61771766 | 61669020 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(51): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0310 a0001c0001t0001g0311 others(46): Show |
54 | 214 | 0.2523 | 15 | c.61- others(30): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61677065 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02258.hp1 HG02572.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0329 others(13): Show |
16 | 325 | 0.0492 | 15 | c.165 others(32): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24042877 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 255 | 0.0039 | 15 | c.346 others(28): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | chr22 | TogoVar | |||||||
CABIN1_chr22_24006304_24183628 | 24136524 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(7): Show |
10 | 108 | 0.0926 | 15 | c.474 others(34): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23181496 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0274 | 1 | 25 | 0.0400 | 15 | c.846 others(32): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23209802 | G | GAGACATT others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00642.hp2 others(40): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0028 others(40): Show |
43 | 206 | 0.2087 | 15 | c.101 others(34): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23209802 | G | GAGACGTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00673.hp2 others(65): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0036 others(65): Show |
68 | 231 | 0.2944 | 15 | c.101 others(34): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23209808 | T | TTGCCTTT others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0006 | a0006c0013 | a0006c0013t0045 | a0006c0013t0045g0144 | 1 | 275 | 0.0036 | 15 | c.101 others(34): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62397916 | A | AGTGGTGA others(8): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0143 |
2 | 357 | 0.0056 | 15 | c.363 others(32): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62397927 | T | TGGTGGTG others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(174): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0020 others(92): Show |
177 | 373 | 0.4745 | 15 | c.363 others(32): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62397938 | A | ATGGCGGT others(8): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0084 | 1 | 366 | 0.0027 | 15 | c.363 others(32): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62398071 | C | CGGTGGTG others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 | 1 | 334 | 0.0030 | 15 | c.363 others(32): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar |