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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRM5_chr15_33963497_34072458 | 34029517 | CAAAAAAA | C | intron_variant | MODIFIER | HG02132.hp1 HG02258.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0034 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0157 others(3): Show |
6 | 27 | 0.2222 | -7 | c.-40 others(28): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA2_chr8_27454756_27484261 | 27457975 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(166): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0011 others(101): Show |
169 | 432 | 0.3912 | -7 | c.*36 others(18): Show |
CHRNA2 | ENSG00000120903.13 | transcript | ENST00000407991.3 | protein_coding | 1780 | chr8 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63357049 | CCACAGGA | C | intron_variant | MODIFIER | HG00544.hp2 HG01258.hp1 HG02015.hp1 others(15): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0017 | a0001c0003t0002a0001c0004t0002a0001c0004t0005others(3): Show | a0001c0003t0002g0035 a0001c0004t0002g0007 a0001c0004t0002g0016 others(14): Show |
18 | 166 | 0.1084 | -7 | c.229 others(22): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63357061 | ATCTCCAC | A | intron_variant | MODIFIER | HG00544.hp2 HG01258.hp1 HG02015.hp1 others(15): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0017 | a0001c0003t0002a0001c0004t0002a0001c0004t0005others(3): Show | a0001c0003t0002g0035 a0001c0004t0002g0007 a0001c0004t0002g0016 others(14): Show |
18 | 54 | 0.3333 | -7 | c.229 others(22): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78577960 | ACTTTTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(158): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 others(139): Show |
161 | 380 | 0.4237 | -7 | c.107 others(24): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32054389 | GTGTTAAA | G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(45): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(121): Show |
126 | 306 | 0.4118 | -7 | c.195 others(26): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32123381 | TAGAGATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(119): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(29): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(118): Show |
122 | 306 | 0.3987 | -7 | c.350 others(26): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA9_chr4_40330333_40360217 | 40332372 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp2 others(25): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003 | a0001c0005t0001g0073 a0001c0005t0003g0011 a0001c0005t0003g0015 others(13): Show |
28 | 199 | 0.1407 | -7 | c.-30 others(18): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 2960 | chr4 | TogoVar | |||||||
CHRNB3_chr8_42692366_42742407 | 42718672 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01978.hp1 HG01978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0184 others(3): Show |
6 | 63 | 0.0952 | -7 | c.249 others(24): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNE_chr17_4892771_4908098 | 4900042 | AACCGAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG02071.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0033 | a0001c0001t0001g0053 a0001c0001t0007g0016 a0001c0001t0007g0018 others(2): Show |
15 | 444 | 0.0338 | -7 | c.918 others(22): Show |
CHRNE | ENSG00000108556.10 | transcript | ENST00000649488.2 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
CHRNG_chr2_232534692_232553115 | 232546306 | CTCTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00639.hp2 others(66): Show |
a0001a0011 | a0001c0002a0001c0008a0001c0016others(1): Show | a0001c0002t0003a0001c0002t0008a0001c0002t0011others(4): Show | a0001c0002t0003g0006 a0001c0002t0003g0009 a0001c0002t0003g0010 others(21): Show |
69 | 431 | 0.1601 | -7 | c.*59 others(16): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 12/12 | 592 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104587827 | GTTTGTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(140): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(140): Show |
143 | 238 | 0.6008 | -7 | c.119 others(26): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104605152 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0002g0098 a0001c0001t0003g0218 a0001c0001t0014g0192 others(3): Show |
6 | 62 | 0.0968 | -7 | c.204 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104635084 | TCCTGCCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0032 others(54): Show |
57 | 238 | 0.2395 | -7 | c.204 others(26): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104637302 | TAAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0032 others(43): Show |
46 | 77 | 0.5974 | -7 | c.204 others(26): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2432141 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02257.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0005 | a0001c0001t0270a0001c0001t0271a0001c0001t0276others(4): Show | a0001c0001t0270g0272 a0001c0001t0271g0163 a0001c0001t0276g0162 others(4): Show |
7 | 43 | 0.1628 | -7 | c.-77 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST14_chr15_40465984_40478158 | 40476550 | CTTTCTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(126): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(7): Show |
129 | 397 | 0.3249 | -7 | c.*42 others(18): Show |
CHST14 | ENSG00000169105.8 | transcript | ENST00000306243.7 | protein_coding | 3393 | chr15 | TogoVar | |||||||
CHST5_chr16_75523530_75541108 | 75523729 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(201): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0014 others(59): Show |
204 | 378 | 0.5397 | -7 | c.*54 others(18): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4800 | chr16 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33718283 | ATCATAGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(136): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0030 others(136): Show |
139 | 252 | 0.5516 | -7 | c.130 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33738585 | GTTTTTTC | G | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0137 |
3 | 250 | 0.0120 | -7 | c.131 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33770906 | GGCCTGGT | G | intron_variant | MODIFIER | HG01975.hp2 HG01993.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0134 a0001c0001t0002g0036 a0001c0001t0002g0045 |
3 | 252 | 0.0119 | -7 | c.131 others(22): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27014453 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0013others(9): Show | a0001c0001t0007g0032 a0001c0001t0007g0122 a0001c0001t0008g0014 others(15): Show |
18 | 40 | 0.4500 | -7 | c.202 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 129906890 | AAGGAATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(121): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0014others(16): Show | a0001c0001t0001g0231 a0001c0002t0001g0003 a0001c0002t0001g0007 others(121): Show |
124 | 276 | 0.4493 | -7 | c.803 others(24): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130088367 | TTAAACTA | T | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01123.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0007others(4): Show | a0001c0001t0006a0001c0001t0013a0001c0001t0017others(13): Show | a0001c0001t0006g0259 a0001c0001t0006g0265 a0001c0001t0006g0267 others(37): Show |
40 | 276 | 0.1449 | -7 | c.108 others(28): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHTF18_chr16_783620_803074 | 795544 | CAAACACA | C | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02895.hp1 others(1): Show |
a0004a0036 | a0004c0021a0036c0044 | a0004c0021t0001a0036c0044t0001 | a0004c0021t0001g0027 a0004c0021t0001g0058 a0036c0044t0001g0057 |
4 | 405 | 0.0099 | -7 | c.217 others(24): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | chr16 | TogoVar | |||||||
CHTF8_chr16_69113010_69137588 | 69134643 | GAAGAACA | G | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02145.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0171 a0001c0001t0001g0172 others(3): Show |
7 | 362 | 0.0193 | -7 | c.-22 others(18): Show |
CHTF8 | ENSG00000168802.14 | transcript | ENST00000448552.7 | protein_coding | 2056 | chr16 | TogoVar | |||||||
CIAO1_chr2_96261225_96279173 | 96273662 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 NA18939.hp2 NA18946.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0036 others(2): Show |
7 | 345 | 0.0203 | -7 | c.*23 others(18): Show |
CIAO1 | ENSG00000144021.3 | transcript | ENST00000488633.2 | protein_coding | 7/7 | 2329 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CIB2_chr15_78099606_78136445 | 78135010 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00733.hp2 others(41): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 others(33): Show |
44 | 245 | 0.1796 | -7 | c.-38 others(18): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 3566 | chr15 | TogoVar | |||||||
CIB3_chr19_16156368_16178525 | 16161673 | CTTTTTTT | C | intron_variant | MODIFIER | HG01361.hp1 HG02615.hp1 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0106 others(5): Show |
10 | 112 | 0.0893 | -7 | c.543 others(22): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26601232 | ATATATAT | A | intron_variant | MODIFIER | HG02300.hp1 HG02717.hp1 HG03831.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0049 a0002c0002t0001g0116 a0002c0002t0002g0111 |
3 | 256 | 0.0117 | -7 | c.187 others(24): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIC_chr19_42264252_42300796 | 42284616 | CGGCGACG | C | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0047 |
5 | 194 | 0.0258 | -7 | c.279 others(26): Show |
CIC | ENSG00000079432.9 | transcript | ENST00000681038.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12270688 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01192.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0126 a0001c0001t0001g0238 a0001c0001t0001g0297 others(21): Show |
25 | 59 | 0.4237 | -7 | c.331 others(24): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12272170 | GGGTTGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0024 others(170): Show |
192 | 335 | 0.5731 | -7 | c.331 others(24): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9875376 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 6 | 130 | 0.0462 | -7 | c.207 others(24): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
CIR1_chr2_174343022_174400712 | 174354505 | TATATATC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(99): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0023 others(93): Show |
102 | 346 | 0.2948 | -7 | c.485 others(24): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CIRBP_chr19_1264332_1279810 | 1278612 | ACAGGGCC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(197): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(25): Show |
200 | 278 | 0.7194 | -7 | c.*61 others(18): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 3803 | chr19 | TogoVar | |||||||
CISD1_chr10_58264162_58294586 | 58274135 | AAAAAAAG | A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01099.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0018 others(21): Show |
72 | 384 | 0.1875 | -7 | c.32- others(22): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119699339 | TAATACTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
a0001 | a0001c0005a0001c0007a0001c0028 | a0001c0005t0008a0001c0005t0010a0001c0005t0022others(2): Show | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | 234 | 0.0726 | -7 | c.562 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119716378 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02027.hp1 others(13): Show |
a0001a0006 | a0001c0001a0006c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show |
16 | 24 | 0.6667 | -7 | c.416 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119717414 | CTTTTCTT | C | intron_variant | MODIFIER | HG02165.hp2 NA18747.hp1 NA18939.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0133 others(4): Show |
7 | 101 | 0.0693 | -7 | c.416 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119737306 | CAAAAAAA | C | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG03098.hp2 others(3): Show |
a0001a0004 | a0001c0005a0001c0028a0004c0019 | a0001c0005t0010a0001c0028t0003a0004c0019t0003 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(3): Show |
6 | 28 | 0.2143 | -7 | c.295 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119745374 | CAAAAAAA | C | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0010a0001c0005t0022a0001c0006t0012 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(3): Show |
6 | 12 | 0.5000 | -7 | c.290 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CKAP2_chr13_52450478_52481627 | 52467706 | AAAAAAAG | A | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0124 others(7): Show |
12 | 404 | 0.0297 | -7 | c.147 others(24): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CKMT1B_chr15_43589027_43604406 | 43596775 | GCTGTTGA | G | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01243.hp1 others(33): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0002t0001g0005 others(7): Show |
36 | 348 | 0.1034 | -7 | c.876 others(22): Show |
CKMT1B | ENSG00000237289.10 | transcript | ENST00000441322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478821 | AACCACAC | A | intron_variant | MODIFIER | HG02257.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0044 | a0001c0001t0023g0092 a0001c0001t0044g0005 |
2 | 212 | 0.0094 | -7 | c.713 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121478965 | ACACACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG02027.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0027others(3): Show | a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0110 others(11): Show |
14 | 212 | 0.0660 | -7 | c.713 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121555988 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0005a0001c0002t0056a0001c0002t0065others(1): Show | a0001c0002t0005g0145 a0001c0002t0005g0147 a0001c0002t0005g0159 others(5): Show |
8 | 33 | 0.2424 | -7 | c.196 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33604320 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG02080.hp2 NA18979.hp1 others(6): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0003 | a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 others(6): Show |
9 | 248 | 0.0363 | -7 | c.169 others(24): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 16/38 | chr3 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33713012 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02040.hp2 HG02622.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006a0001c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0212 a0001c0001t0003g0043 a0001c0001t0003g0211 others(11): Show |
14 | 122 | 0.1148 | -7 | c.195 others(24): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | |||||||
CLBA1_chr14_104980788_105000516 | 104987606 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01952.hp1 HG02027.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0021 | a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0071 others(2): Show |
13 | 124 | 0.1048 | -7 | c.423 others(22): Show |
CLBA1 | ENSG00000140104.14 | transcript | ENST00000547315.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |