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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0185 a0001c0001t0002g0210 a0001c0001t0002g0212 others(2): Show |
5 | 13 | 0.3846 | 29 | c.118 others(48): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55854531 | C | CTTTCTGT others(22): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0322 a0001c0001t0005g0191 |
2 | 277 | 0.0072 | 29 | c.112 others(48): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(22): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0003 | 1 | 8 | 0.1250 | 29 | c.*69 others(40): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0036 | a0001c0001t0001g0060 a0001c0001t0003g0017 a0001c0001t0003g0027 others(2): Show |
8 | 352 | 0.0227 | 29 | c.139 others(44): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80385850 | T | TGTCTTCT others(22): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 96 | 0.0104 | 29 | c.242 others(48): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799285 | G | GTATAAAT others(22): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0035 | 1 | 87 | 0.0115 | 29 | c.334 others(48): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799322 | A | ATATTTAT others(22): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073 a0001c0001t0002g0051 |
2 | 83 | 0.0241 | 29 | c.334 others(48): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44334519 | C | CCCCCCTC others(22): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01261.hp1 HG01361.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0086 others(14): Show |
24 | 434 | 0.0553 | 29 | c.143 others(46): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44334520 | C | CCCCCCTC others(22): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18967.hp2 NA18987.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0005c0011t0012 | a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0173 others(2): Show |
5 | 372 | 0.0134 | 29 | c.143 others(46): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888613 | C | CCCTGCCA others(22): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0177 | 1 | 237 | 0.0042 | 29 | c.330 others(48): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 51 | 0.0196 | 29 | c.131 others(48): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19002.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0026 a0002c0002t0001g0003 |
2 | 52 | 0.0385 | 29 | c.131 others(48): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | HG01261.hp1 HG04204.hp1 NA19001.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0004 a0002c0002t0001g0016 a0002c0002t0001g0052 others(2): Show |
5 | 55 | 0.0909 | 29 | c.131 others(48): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAATAT others(22): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18981.hp2 NA18999.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0104 a0002c0002t0001g0079 a0002c0002t0001g0126 |
3 | 53 | 0.0566 | 29 | c.131 others(48): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96825260 | T | TATATAAT others(22): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0040 | a0040c0079 | a0040c0079t0001 | a0040c0079t0001g0184 | 1 | 266 | 0.0038 | 29 | c.909 others(48): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96826306 | A | AGACAATA others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(83): Show |
a0002a0003a0004others(17): Show | a0002c0003a0002c0058a0002c0091others(29): Show | a0002c0003t0001a0002c0058t0001a0002c0091t0001others(31): Show | a0002c0003t0001g0129 a0002c0003t0001g0137 a0002c0003t0001g0152 others(83): Show |
86 | 266 | 0.3233 | 29 | c.909 others(48): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296284 | C | CCCTTCCC others(22): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0178 a0001c0001t0002g0067 a0001c0001t0003g0127 others(3): Show |
6 | 234 | 0.0256 | 29 | c.321 others(48): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296291 | C | CTCCTTCC others(22): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0197 | 1 | 232 | 0.0043 | 29 | c.321 others(48): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73362980 | C | CAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0004 a0003c0003t0002g0005 |
2 | 127 | 0.0157 | 29 | c.-42 others(40): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 4117 | chr10 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132438541 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0319 | 1 | 217 | 0.0046 | 29 | c.195 others(48): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02293.hp1 HG04199.hp1 NA18995.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0268 a0001c0002t0001g0042 a0001c0002t0001g0086 |
3 | 123 | 0.0244 | 29 | c.651 others(48): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01515.hp2 NA19007.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0060 a0002c0003t0001g0006 |
2 | 56 | 0.0357 | 29 | c.651 others(48): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349688 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 28 | 0.0357 | 29 | c.651 others(48): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349690 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 13 | 0.0769 | 29 | c.651 others(48): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753833 | A | ATAATGTA others(22): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 2 | 225 | 0.0089 | 29 | c.905 others(46): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTCTTT others(22): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0014 | 1 | 29 | 0.0345 | 29 | c.-13 others(40): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(22): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0010 | a0010c0018 | a0010c0018t0006 | a0010c0018t0006g0236 | 1 | 29 | 0.0345 | 29 | c.-13 others(40): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57394101 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG01928.hp2 others(7): Show |
a0001a0002a0016 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0002g0240 others(7): Show |
10 | 191 | 0.0524 | 29 | c.-16 others(48): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GGAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0167 | 1 | 17 | 0.0588 | 29 | c.169 others(46): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | chr15 | TogoVar | |||||||
CGN_chr1_151506387_151543692 | 151531808 | T | TTTATCAT others(22): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18982.hp1 NA18994.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0224 others(1): Show |
7 | 372 | 0.0188 | 29 | c.257 others(46): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(22): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18956.hp2 NA18988.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 a0001c0002t0002g0106 a0001c0002t0002g0111 |
3 | 197 | 0.0152 | 29 | c.-12 others(46): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116924 | T | TCTCTCTC others(22): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03490.hp2 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(1): Show |
4 | 316 | 0.0127 | 29 | c.-12 others(46): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 44 | 0.0227 | 29 | c.104 others(44): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 7 | 0.1429 | 29 | c.137 others(48): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 5 | 0.2000 | 29 | c.412 others(48): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147299000 | C | CTTTTTTT others(22): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 26 | 0.0385 | 29 | c.*34 others(40): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 119 | 0.0084 | 29 | c.54- others(44): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CCAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03130.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0066 |
3 | 103 | 0.0291 | 29 | c.53+ others(44): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 239595 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0045 | 1 | 174 | 0.0057 | 29 | c.-17 others(48): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | chr3 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23241367 | C | CTTTTTTT others(22): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0158 | 1 | 58 | 0.0172 | 29 | c.-29 others(40): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2269 | chr8 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 113 | 0.0088 | 29 | c.*83 others(40): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAGAA others(22): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02015.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0126 a0001c0001t0003g0150 others(2): Show |
5 | 49 | 0.1020 | 29 | c.116 others(48): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AGAAAGAA others(22): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0079 a0001c0001t0010g0161 |
2 | 46 | 0.0435 | 29 | c.116 others(48): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174961122 | A | AAGGAAGG others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(93): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0095 others(93): Show |
96 | 274 | 0.3504 | 29 | c.20- others(44): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29252574 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0167 | 1 | 230 | 0.0043 | 29 | c.49+ others(46): 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(22): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0066 |
2 | 118 | 0.0169 | 29 | c.49+ others(46): 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(22): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 89 | 0.0112 | 29 | c.577 others(48): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18251734 | T | TTATTTAT others(22): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0294 a0001c0001t0018g0293 |
2 | 386 | 0.0052 | 29 | c.80- others(44): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23759423 | T | TCTTTCTT others(22): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00735.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0012a0002c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0012g0002 others(2): Show |
22 | 316 | 0.0696 | 29 | c.*18 others(40): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 489 | chr16 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136921794 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01257.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0010 | a0001c0001t0005g0291 a0001c0001t0008g0087 a0001c0001t0008g0089 others(1): Show |
4 | 126 | 0.0317 | 29 | c.-12 others(50): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |