| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFDP1_chr16_75288710_75438503 | 75349690 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 314 | 0.0032 | 25 | c.651 others(44): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| CFDP1_chr16_75288710_75438503 | 75349690 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0009a0001c0002t0009g0314 | 2 | 314 | 0.0064 | 25 | c.651 others(44): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| CFD_chr19_854664_868641 | 864042 | C | CCACACCA others(18): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 287 | 0.0035 | 25 | c.*80 others(34): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 402 | chr19 | TogoVar | ||||||
| CFHR5_chr1_196972556_197014678 | 196976799 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 356 | 0.0028 | 25 | c.-86 others(34): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 756 | chr1 | TogoVar | ||||||
| CFH_chr1_196647043_196752504 | 196658407 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19057.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0256a0001c0008t0001g0176 | 2 | 308 | 0.0065 | 25 | c.58+ others(40): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CFI_chr4_109735695_109806999 | 109753514 | A | AATAAATA others(18): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 354 | 0.0028 | 25 | c.905 others(42): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
| CFI_chr4_109735695_109806999 | 109753580 | T | TATATAAT others(18): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0270a0001c0001t0001g0328a0001c0001t0001g0330others(7): Show | 10 | 354 | 0.0283 | 25 | c.905 others(42): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
| CFLAR_chr2_201111164_201181687 | 201166938 | C | CAGAGGGA others(18): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(91): Show |
a0001a0002a0003 | a0001c0002a0001c0007a0002c0004others(1): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(56): Show | a0001c0002t0003g0003a0001c0002t0003g0080a0001c0002t0003g0087others(88): Show | 94 | 234 | 0.4017 | 25 | c.*29 others(36): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 2981 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| CFLAR_chr2_201111164_201181687 | 201173669 | G | GTTATTTT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0034a0001c0001t0130others(2): Show | a0001c0001t0032g0056a0001c0001t0032g0063a0001c0001t0034g0059others(4): Show | 7 | 234 | 0.0299 | 25 | c.*97 others(36): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 9714 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 NA18939.hp2 NA18947.hp1 others(1): Show |
a0002 | a0002c0001a0002c0005 | a0002c0001t0001a0002c0001t0017a0002c0005t0002 | a0002c0001t0001g0006a0002c0001t0001g0242a0002c0001t0017g0133others(1): Show | 4 | 410 | 0.0098 | 25 | c.-13 others(36): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
| CGNL1_chr15_57371505_57555717 | 57409315 | T | TGTCTGGG others(18): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0265 | 1 | 294 | 0.0034 | 25 | c.-15 others(44): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CGNL1_chr15_57371505_57555717 | 57442182 | G | GAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 294 | 0.0034 | 25 | c.169 others(42): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(18): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02145.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095a0001c0002t0002g0096a0001c0002t0002g0134others(1): Show | 4 | 352 | 0.0114 | 25 | c.-12 others(42): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| CGREF1_chr2_27095594_27124128 | 27116924 | T | TCTCTCTC others(18): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 352 | 0.0028 | 25 | c.-12 others(42): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| CGRRF1_chr14_54504906_54544292 | 54513578 | T | TATGTTAT others(18): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18988.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0208a0002c0002t0002g0209 | 2 | 338 | 0.0059 | 25 | c.104 others(42): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0341 | 1 | 384 | 0.0026 | 25 | c.104 others(40): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHAF1A_chr19_4397640_4448397 | 4411644 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 | 1 | 384 | 0.0026 | 25 | c.960 others(42): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02486.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0122a0001c0001t0001g0239a0001c0001t0001g0252others(1): Show | 4 | 384 | 0.0104 | 25 | c.137 others(44): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHCHD3_chr7_132779870_133087090 | 132955173 | G | GTGTGTGT others(18): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 310 | 0.0032 | 25 | c.369 others(44): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| CHD1L_chr1_147237684_147300762 | 147299000 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG03516.hp2 NA20752.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0001a0002c0002t0001 | a0001c0007t0001g0149a0001c0007t0001g0152a0002c0002t0001g0011 | 3 | 418 | 0.0072 | 25 | c.*34 others(36): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | ||||||
| CHD1_chr5_98848985_98934007 | 98911144 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 334 | 0.0030 | 25 | c.54- others(40): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
| CHD1_chr5_98848985_98934007 | 98911146 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 NA19074.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0283a0001c0003t0006g0063 | 2 | 334 | 0.0060 | 25 | c.54- others(40): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
| CHD1_chr5_98848985_98934007 | 98911146 | A | ATCTATAT others(18): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18950.hp1 NA18970.hp1 |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0018 | a0002c0002t0007g0010a0002c0002t0007g0011a0002c0002t0018g0012 | 3 | 334 | 0.0090 | 25 | c.54- others(40): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
| CHD1_chr5_98848985_98934007 | 98917299 | C | CCAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0048 | 1 | 334 | 0.0030 | 25 | c.53+ others(40): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
| CHD5_chr1_6096787_6185321 | 6153827 | T | TCAAAACA others(18): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0024 | a0001c0024t0012 | a0001c0024t0012g0003 | 2 | 320 | 0.0063 | 25 | c.745 others(40): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 5/41 | chr1 | TogoVar | ||||||
| CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03516.hp2 NA19057.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0211a0001c0001t0002g0219a0001c0002t0001g0302 | 3 | 324 | 0.0093 | 25 | c.853 others(42): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | ||||||
| CHD8_chr14_21380199_21461123 | 21454162 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129a0001c0001t0003g0130 | 2 | 260 | 0.0077 | 25 | c.-21 others(44): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
| CHD9_chr16_53049991_53332497 | 53233588 | A | ACCTTCTC others(18): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 238 | 0.0042 | 25 | c.251 others(44): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 10/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHL1_chr3_191763_414417 | 239595 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0045 | 1 | 290 | 0.0035 | 25 | c.-17 others(44): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | chr3 | TogoVar | ||||||
| CHMP7_chr8_23238637_23266999 | 23241367 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02602.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0018 | a0001c0001t0006g0165a0001c0004t0018g0039 | 2 | 438 | 0.0046 | 25 | c.-29 others(36): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2269 | chr8 | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG02451.hp2 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0006 | a0001c0001t0001g0103a0008c0011t0006g0230 | 2 | 245 | 0.0082 | 25 | c.*83 others(36): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85856298 | A | AAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 245 | 0.0041 | 25 | c.*83 others(36): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4881 | chrX | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85871320 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0212 | 1 | 245 | 0.0041 | 25 | c.177 others(44): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 14/14 | chrX | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 245 | 0.0041 | 25 | c.116 others(44): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85913332 | A | AGAAAGAA others(18): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 245 | 0.0041 | 25 | c.116 others(44): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| CHN2_chr7_29189775_29519328 | 29252578 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02486.hp1 HG02615.hp1 |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0005a0002c0003t0004a0002c0004t0005 | a0001c0002t0005g0173a0002c0003t0004g0104a0002c0004t0005g0211 | 3 | 232 | 0.0129 | 25 | c.49+ others(42): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29437597 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0084 | 1 | 232 | 0.0043 | 25 | c.576 others(44): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29442934 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG01884.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0026a0001c0001t0003g0204a0001c0002t0001g0134others(7): Show | 10 | 232 | 0.0431 | 25 | c.577 others(44): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHP2_chr16_23750026_23763935 | 23759381 | C | CTTCTTTC others(18): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | 25 | c.*17 others(36): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 447 | chr16 | TogoVar | ||||||
| CHP2_chr16_23750026_23763935 | 23759423 | T | TCTTTCTT others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00735.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(1): Show | 30 | 392 | 0.0765 | 25 | c.*18 others(36): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 489 | chr16 | TogoVar | ||||||
| CHRM2_chr7_136863652_137025213 | 136867786 | T | TATATATA others(18): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0006a0001c0001t0025g0123 | 2 | 320 | 0.0063 | 25 | c.-14 others(36): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 865 | chr7 | TogoVar | ||||||
| CHRM2_chr7_136863652_137025213 | 136921790 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0074 | 1 | 320 | 0.0031 | 25 | c.-12 others(46): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHRM2_chr7_136863652_137025213 | 136921794 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0086 | 1 | 320 | 0.0031 | 25 | c.-12 others(46): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239385815 | C | CTCTCTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0056a0001c0001t0057 | a0001c0001t0014g0075a0001c0001t0056g0079a0001c0001t0057g0084 | 3 | 116 | 0.0259 | 25 | c.-19 others(36): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 752 | chr1 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239385815 | C | CTCTCTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01256.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0105others(7): Show | 10 | 116 | 0.0862 | 25 | c.-19 others(36): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 752 | chr1 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239413535 | C | CCCTCAGC others(18): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0017 | 1 | 116 | 0.0086 | 25 | c.-52 others(46): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239732310 | T | TATACCTA others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01106.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0056a0001c0001t0001g0083a0001c0001t0002g0107others(20): Show | 23 | 116 | 0.1983 | 25 | c.-14 others(46): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239813916 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0094 | 1 | 116 | 0.0086 | 25 | c.-14 others(46): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239874293 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01255.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0054a0001c0001t0002g0048a0001c0001t0003g0057others(6): Show | 9 | 116 | 0.0776 | 25 | c.-19 others(44): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRNA10_chr11_3660587_3676384 | 3663089 | A | ATCATCTC others(18): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 450 | 0.0022 | 25 | c.*29 others(36): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2497 | chr11 | TogoVar |