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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 119 | 0.0084 | 26 | c.49+ others(39): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29252578 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG01952.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0136 a0001c0001t0005g0072 a0001c0001t0006g0197 others(2): Show |
5 | 121 | 0.0413 | 26 | c.49+ others(43): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273347 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0119 | 1 | 203 | 0.0049 | 26 | c.49+ others(43): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273349 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01952.hp2 NA18957.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0003g0193 a0001c0001t0006g0197 a0001c0002t0002g0085 others(3): Show |
6 | 224 | 0.0268 | 26 | c.49+ others(43): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273351 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0181 a0001c0002t0005g0228 |
2 | 226 | 0.0088 | 26 | c.49+ others(43): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273355 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0104 a0001c0001t0012g0105 |
2 | 229 | 0.0087 | 26 | c.49+ others(43): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29442934 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG03453.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0001g0011 a0001c0001t0006g0150 a0001c0002t0002g0118 others(3): Show |
6 | 94 | 0.0638 | 26 | c.577 others(45): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29512182 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0149 | 1 | 221 | 0.0045 | 26 | c.123 others(43): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18251630 | A | ATTTATTT others(19): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0087 | 1 | 400 | 0.0025 | 26 | c.80- others(41): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23759379 | C | CCTTCTTC others(19): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 386 | 0.0026 | 26 | c.*17 others(37): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 445 | chr16 | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689606 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0030 others(60): Show |
65 | 145 | 0.4483 | 26 | c.779 others(41): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689789 | A | CTCTATAT others(19): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19079.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0002g0135 |
3 | 170 | 0.0176 | 26 | c.779 others(41): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL2_chr11_74691429_74736426 | 74731344 | C | CCGGCGGG others(19): Show |
5_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0033 | 1 | 390 | 0.0026 | 26 | c.-48 others(35): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/11 | 457 | chr11 | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30393857 | C | CTGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0024 | 1 | 95 | 0.0105 | 26 | c.-76 others(35): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 318 | chr15 | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30393865 | G | GTGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 87 | 0.0115 | 26 | c.-77 others(35): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 326 | chr15 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTCT others(19): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0034 |
2 | 229 | 0.0087 | 26 | c.-35 others(37): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTCT others(19): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 |
2 | 229 | 0.0087 | 26 | c.-35 others(37): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136921794 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00738.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(11): Show |
14 | 136 | 0.1029 | 26 | c.-12 others(47): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137011215 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01168.hp2 NA18939.hp2 NA18971.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0076a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0076g0109 a0001c0002t0001g0027 a0001c0002t0005g0030 others(1): Show |
4 | 249 | 0.0161 | 26 | c.-46 others(43): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239383054 | G | GTCTCTCT others(19): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 HG03139.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0022 | a0001c0001t0006g0003 a0001c0001t0013g0078 a0001c0001t0022g0009 |
3 | 51 | 0.0588 | 26 | c.-46 others(37): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3513 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239580704 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0055 | a0001c0001t0019g0025 a0001c0001t0055g0079 |
2 | 97 | 0.0206 | 26 | c.-31 others(47): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239602110 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 82 | 0.0122 | 26 | c.-31 others(47): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239684770 | G | GAAAGAAA others(19): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 98 | 0.0102 | 26 | c.-14 others(45): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239732612 | C | CTTAGATA others(19): Show |
intron_variant | MODIFIER | NA18943.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008 a0001c0001t0005g0053 |
2 | 114 | 0.0175 | 26 | c.-14 others(47): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239732638 | C | CTTAGATA others(19): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0088 | 1 | 114 | 0.0088 | 26 | c.-14 others(47): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRNA1_chr2_174742592_174769472 | 174768215 | C | CAAACATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(103): Show |
265 | 348 | 0.7615 | 26 | c.-38 others(37): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 3744 | chr2 | TogoVar | |||||||
CHRNA1_chr2_174742592_174769472 | 174768263 | T | TATGTAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02809.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0114 |
3 | 367 | 0.0082 | 26 | c.-38 others(37): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 3792 | chr2 | TogoVar | |||||||
CHRNA2_chr8_27454756_27484261 | 27480467 | A | AGAAAAGG others(19): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004 | a0001c0001t0003g0208 a0002c0002t0004g0209 |
2 | 428 | 0.0047 | 26 | c.-17 others(37): Show |
CHRNA2 | ENSG00000120903.13 | transcript | ENST00000407991.3 | protein_coding | 1207 | chr8 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63359903 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 86 | 0.0116 | 26 | c.77- others(39): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63359903 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00609.hp1 others(35): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0012 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0018 others(29): Show |
38 | 123 | 0.3089 | 26 | c.77- others(39): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78570424 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0163 | 1 | 89 | 0.0112 | 26 | c.106 others(43): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32070669 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0192 | 1 | 9 | 0.1111 | 26 | c.196 others(45): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32114057 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0248 | 1 | 304 | 0.0033 | 26 | c.350 others(43): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32165959 | T | TGCTCGCT others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0205 a0001c0001t0029g0212 |
2 | 306 | 0.0065 | 26 | c.991 others(43): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42717403 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0001t0001g0109 others(5): Show |
8 | 23 | 0.3478 | 26 | c.249 others(43): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104637302 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0005 | 1 | 32 | 0.0313 | 26 | c.204 others(45): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124045112 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 279 | 0.0036 | 26 | c.547 others(41): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAAAGAAA others(19): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 181 | 0.0055 | 26 | c.131 others(45): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAAAGAGA others(19): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0117 | 1 | 181 | 0.0055 | 26 | c.131 others(45): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33765053 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01071.hp2 NA19010.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0128 a0001c0001t0001g0226 |
3 | 224 | 0.0134 | 26 | c.131 others(43): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33765070 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02683.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0104 a0001c0001t0003g0216 |
3 | 202 | 0.0149 | 26 | c.131 others(43): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33765070 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 200 | 0.0050 | 26 | c.131 others(43): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101171019 | A | AAAATGTC others(19): Show |
downstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0014 | a0001c0014t0013 | a0001c0014t0013g0201 | 1 | 420 | 0.0024 | 26 | c.*63 others(37): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 4707 | chr15 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130143756 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0123 | 1 | 240 | 0.0042 | 26 | c.108 others(47): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795580 | G | GCCGCCCC others(19): Show |
intron_variant | MODIFIER | HG03471.hp2 NA21309.hp1 |
a0025 | a0025c0041 | a0025c0041t0001a0025c0041t0007 | a0025c0041t0001g0188 a0025c0041t0007g0187 |
2 | 247 | 0.0081 | 26 | c.217 others(43): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93695813 | G | GCAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 119 | 0.0084 | 26 | c.-48 others(37): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 4736 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697748 | G | GTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
2 | 371 | 0.0054 | 26 | c.-29 others(37): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2801 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697750 | G | GTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(84): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 others(38): Show |
87 | 366 | 0.2377 | 26 | c.-28 others(37): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2799 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697763 | T | TACATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01358.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show |
14 | 182 | 0.0769 | 26 | c.-28 others(37): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2786 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697763 | T | TATACATA others(19): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02257.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0007others(1): Show | a0001c0001t0001g0137 a0001c0001t0003g0012 a0001c0001t0003g0049 others(4): Show |
10 | 178 | 0.0562 | 26 | c.-28 others(37): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2786 | chr8 | TogoVar |