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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0067 a0001c0001t0001g0205 a0001c0001t0003g0029 others(6): Show |
10 | 354 | 0.0282 | 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 | a0001c0003t0002g0092 a0002c0006t0001g0088 |
2 | 95 | 0.0211 | 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 |
a0001a0008a0016 | a0001c0001a0008c0011a0016c0018 | a0001c0001t0039a0008c0011t0033a0016c0018t0055 | a0001c0001t0039g0327 a0008c0011t0033g0026 a0016c0018t0055g0152 |
3 | 187 | 0.0160 | 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 |
a0001a0003a0008others(1): Show | a0001c0001a0003c0004a0008c0009others(1): Show | a0001c0001t0001a0003c0004t0001a0008c0009t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(32): Show |
60 | 215 | 0.2791 | 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 | a0001c0001t0001g0259 | 1 | 33 | 0.0303 | 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 |
a0012a0033a0044others(1): Show | a0012c0025a0033c0074a0044c0102others(1): Show | a0012c0025t0002a0033c0074t0002a0044c0102t0002others(1): Show | a0012c0025t0002g0014 a0033c0074t0002g0006 a0044c0102t0002g0019 others(1): Show |
4 | 87 | 0.0460 | 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 | a0075 | a0075c0098 | a0075c0098t0002 | a0075c0098t0002g0023 | 1 | 244 | 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 | a0001c0002t0001g0073 | 1 | 308 | 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 | a0001c0014t0001g0212 | 1 | 51 | 0.0196 | 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 | a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0098 others(3): Show |
6 | 56 | 0.1071 | 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 | a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0138 others(3): Show |
6 | 56 | 0.1071 | 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 | a0002c0002t0001g0001 a0002c0002t0001g0114 a0003c0003t0001g0006 |
3 | 53 | 0.0566 | 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 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0205 | 1 | 110 | 0.0091 | 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 | a0041 | a0041c0084 | a0041c0084t0001 | a0041c0084t0001g0124 | 1 | 266 | 0.0038 | 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 | 234 | 0.0043 | 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 | a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0079 others(107): Show |
110 | 234 | 0.4701 | 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 | 128 | 0.0078 | 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 | a0001c0001t0001g0079 a0002c0002t0003g0083 a0002c0002t0007g0018 |
3 | 128 | 0.0234 | 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 | a0001c0001t0001g0120 a0002c0007t0002g0156 |
2 | 30 | 0.0667 | 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 | a0001c0001t0001g0273 | 1 | 13 | 0.0769 | 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 | a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0083 |
3 | 356 | 0.0084 | 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 | 230 | 0.0043 | 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 | 4 | 0.2500 | 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 | 186 | 0.0054 | 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 | 103 | 0.0097 | 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 | 288 | 0.0035 | 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 | a0001c0001t0001g0103 a0001c0001t0001g0306 a0001c0001t0001g0308 |
3 | 255 | 0.0118 | 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 | 203 | 0.0049 | 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 | a0001c0001t0001g0123 a0001c0001t0001g0244 a0001c0002t0001g0054 others(1): Show |
4 | 124 | 0.0323 | 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 | a0001c0002t0001g0048 a0001c0002t0001g0067 |
2 | 56 | 0.0357 | 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 | 28 | 0.0357 | 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 | 13 | 0.0769 | 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 | a0002c0003t0001g0314 | 1 | 334 | 0.0030 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0294 a0001c0001t0001g0295 others(3): Show |
8 | 352 | 0.0227 | 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 | a0001c0002t0043 | a0001c0002t0043g0066 | 1 | 160 | 0.0063 | 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 | a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0009g0170 others(2): Show |
5 | 33 | 0.1515 | 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 | 182 | 0.0055 | 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 | a0001c0001t0004g0146 a0001c0001t0010g0275 a0002c0002t0012g0263 |
3 | 19 | 0.1579 | 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 | a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0081 others(1): Show |
4 | 198 | 0.0202 | 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 | a0001c0001t0001g0245 a0001c0002t0002g0114 a0004c0006t0002g0066 |
3 | 315 | 0.0095 | 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 | a0001c0001t0001g0140 a0001c0001t0001g0246 a0001c0001t0001g0254 |
3 | 9 | 0.3333 | 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 | a0001c0001t0006g0291 | 1 | 145 | 0.0069 | 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 | a0001c0001t0023g0138 | 1 | 337 | 0.0030 | 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 | 412 | 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 | 5 | 0.2000 | 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 | a0001c0001t0003g0207 | 1 | 26 | 0.0385 | 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 | a0001c0001t0001g0235 a0001c0001t0001g0255 |
2 | 285 | 0.0070 | 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 | a0002c0002t0005g0028 | 1 | 119 | 0.0084 | 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 | a0001c0001t0001g0243 a0001c0001t0001g0268 |
2 | 120 | 0.0167 | 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 | a0002c0002t0007g0015 | 1 | 119 | 0.0084 | 23 | c.54- others(38): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar |