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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0206a0001c0001t0003g0028others(6): Show | 10 | 416 | 0.0240 | 23 | c.139 others(38): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799814 | T | TATATTTA others(16): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0002a0002c0006t0001 | a0001c0003t0002g0092a0002c0006t0001g0088 | 2 | 96 | 0.0208 | 23 | c.334 others(42): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP44_chr3_113281930_113446493 | 113302457 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02572.hp2 |
a0001a0009a0019 | a0001c0001a0009c0011a0019c0018 | a0001c0001t0039a0009c0011t0033a0019c0018t0055 | a0001c0001t0039g0329a0009c0011t0033g0024a0019c0018t0055g0153 | 3 | 348 | 0.0086 | 23 | c.507 others(42): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159873849 | C | CCTTCCTT others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(57): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0004a0007c0009others(1): Show | a0001c0001t0001a0003c0004t0001a0007c0009t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(32): Show | 60 | 410 | 0.1463 | 23 | c.135 others(40): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 410 | 0.0024 | 23 | c.104 others(42): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132805465 | G | GTGGGCCA others(16): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01257.hp2 HG02109.hp2 others(1): Show |
a0012a0038a0065others(1): Show | a0012c0025a0038c0037a0065c0102others(1): Show | a0012c0025t0002a0038c0037t0001a0065c0102t0002others(1): Show | a0012c0025t0002g0014a0038c0037t0001g0230a0065c0102t0002g0018others(1): Show | 4 | 246 | 0.0163 | 23 | c.*29 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 2926 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132823096 | G | GTGCTGAT others(16): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0071 | a0071c0098 | a0071c0098t0002 | a0071c0098t0002g0023 | 1 | 246 | 0.0041 | 23 | c.711 others(42): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631055 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 316 | 0.0032 | 23 | c.117 others(42): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0201 | 1 | 402 | 0.0025 | 23 | c.131 others(42): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG02071.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0056a0001c0001t0001g0088a0001c0001t0001g0090others(3): Show | 6 | 402 | 0.0149 | 23 | c.131 others(42): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG02602.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0058a0001c0001t0001g0096a0001c0001t0001g0165others(3): Show | 6 | 402 | 0.0149 | 23 | c.131 others(42): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03669.hp2 NA18984.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0126a0002c0002t0001g0127a0003c0003t0001g0240 | 3 | 402 | 0.0075 | 23 | c.131 others(42): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96634046 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0206 | 1 | 268 | 0.0037 | 23 | c.431 others(42): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 32/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96826366 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0058 | a0058c0084 | a0058c0084t0001 | a0058c0084t0001g0129 | 1 | 268 | 0.0037 | 23 | c.909 others(42): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20073583 | C | CATAAGCA others(16): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 236 | 0.0042 | 23 | c.295 others(38): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20355041 | G | GAGGTGGT others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(107): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0006others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0079others(107): Show | 110 | 236 | 0.4661 | 23 | c.351 others(42): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356707 | T | TGAGGGGA others(16): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 236 | 0.0042 | 23 | c.351 others(42): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357471 | T | TACTGTGA others(16): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03471.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0007 | a0001c0001t0001g0079a0002c0002t0003g0083a0002c0002t0007g0018 | 3 | 236 | 0.0127 | 23 | c.351 others(42): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132559346 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18941.hp2 NA19078.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0002 | a0001c0001t0001g0120a0002c0007t0002g0156 | 2 | 322 | 0.0062 | 23 | c.733 others(42): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 386 | 0.0026 | 23 | c.146 others(40): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843511 | T | TCCTCCCC others(16): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18945.hp2 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0085a0001c0001t0001g0086 | 3 | 380 | 0.0079 | 23 | c.153 others(40): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97_chr4_185154665_185209000 | 185192733 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0053 | 1 | 350 | 0.0029 | 23 | c.-16 others(40): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
CFC1B_chr2_130516222_130533603 | 130532673 | A | AAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 12 | 0.0833 | 23 | c.*47 others(34): Show |
CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 4071 | chr2 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75297146 | T | TTTGTGTG others(16): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 314 | 0.0032 | 23 | c.810 others(40): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75301536 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 314 | 0.0032 | 23 | c.809 others(40): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349678 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 314 | 0.0032 | 23 | c.651 others(42): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349680 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03471.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0306a0001c0001t0001g0308 | 3 | 314 | 0.0096 | 23 | c.651 others(42): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 314 | 0.0032 | 23 | c.651 others(42): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01981.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0123a0001c0001t0001g0245a0001c0002t0001g0054others(1): Show | 4 | 314 | 0.0127 | 23 | c.651 others(42): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047a0001c0002t0001g0067 | 2 | 314 | 0.0064 | 23 | c.651 others(42): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349688 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 314 | 0.0032 | 23 | c.651 others(42): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349690 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 314 | 0.0032 | 23 | c.651 others(42): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753355 | A | AAATATTT others(16): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0321 | 1 | 354 | 0.0028 | 23 | c.905 others(38): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109800293 | C | CATAATTA others(16): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG01928.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0277a0001c0001t0001g0299a0001c0001t0001g0300others(5): Show | 8 | 354 | 0.0226 | 23 | c.57+ others(38): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114046 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0065 | 1 | 234 | 0.0043 | 23 | c.-25 others(34): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2117 | chr2 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02738.hp1 HG02922.hp1 others(2): Show |
a0002 | a0002c0001a0002c0008 | a0002c0001t0001a0002c0001t0009a0002c0001t0064others(1): Show | a0002c0001t0001g0021a0002c0001t0001g0252a0002c0001t0009g0175others(2): Show | 5 | 410 | 0.0122 | 23 | c.-13 others(34): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57394101 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 294 | 0.0034 | 23 | c.-16 others(42): 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(16): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03516.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0010a0002c0002t0012 | a0001c0001t0004g0146a0001c0001t0010g0275a0002c0002t0012g0263 | 3 | 294 | 0.0102 | 23 | c.169 others(40): 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(16): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03239.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0092a0001c0002t0002g0093a0001c0002t0002g0094others(1): Show | 4 | 352 | 0.0114 | 23 | c.-12 others(40): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116924 | T | TCTCTCTC others(16): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01993.hp2 NA20905.hp1 |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0002a0004c0006t0002 | a0001c0001t0001g0274a0001c0002t0002g0142a0004c0006t0002g0059 | 3 | 352 | 0.0085 | 23 | c.-12 others(40): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0246a0001c0001t0001g0254 | 3 | 384 | 0.0078 | 23 | c.137 others(42): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0311 | 1 | 346 | 0.0029 | 23 | c.260 others(40): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36401550 | T | TTTTTATA others(16): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0209 | 1 | 346 | 0.0029 | 23 | c.664 others(40): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHCHD4_chr3_14107077_14129870 | 14115969 | A | ATCCTGCT others(16): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 416 | 0.0024 | 23 | c.121 others(38): Show |
CHCHD4 | ENSG00000163528.13 | transcript | ENST00000396914.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 216 | 0.0046 | 23 | c.412 others(42): 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(16): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 418 | 0.0024 | 23 | c.*34 others(34): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98911144 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01256.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239a0001c0001t0001g0258 | 2 | 334 | 0.0060 | 23 | c.54- others(38): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0022 | 1 | 334 | 0.0030 | 23 | c.54- others(38): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245a0001c0001t0001g0274 | 2 | 334 | 0.0060 | 23 | c.54- others(38): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | ATCTATAT others(16): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0009 | 1 | 334 | 0.0030 | 23 | c.54- others(38): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar |