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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP251_chr12_121913592_122008919 | 121926021 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0350 | 1 | 59 | 0.0169 | -15 | c.747 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121974691 | AGGTTTTC others(8): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0226 | 1 | 352 | 0.0028 | -15 | c.277 others(32): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 122008460 | TTTATTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0092 | 1 | 351 | 0.0028 | -15 | c.*46 others(26): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 4542 | chr12 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80800385 | AATATATT others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0038 a0002c0002t0001g0002 |
2 | 94 | 0.0213 | -15 | c.334 others(34): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95268751 | CGGGCGGG others(8): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG03209.hp1 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0020a0002c0002t0023others(1): Show | a0002c0002t0001g0148 a0002c0002t0001g0151 a0002c0002t0020g0150 others(3): Show |
7 | 368 | 0.0190 | -15 | c.155 others(30): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104190135 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 167 | 0.0060 | -15 | c.154 others(34): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 12/37 | chr10 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104200628 | ACCACTGT others(8): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 304 | 0.0033 | -15 | c.109 others(34): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113370219 | AACTCATT others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp2 |
a0003 | a0003c0019 | a0003c0019t0014 | a0003c0019t0014g0164 a0003c0019t0014g0165 |
2 | 346 | 0.0058 | -15 | c.244 others(34): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 18/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02965.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0011 a0003c0004t0001g0137 |
5 | 37 | 0.1351 | -15 | c.104 others(34): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132813463 | CCTGCAGT others(8): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03453.hp2 |
a0012a0055 | a0012c0076a0055c0075 | a0012c0076t0001a0055c0075t0001 | a0012c0076t0001g0131 a0055c0075t0001g0235 |
2 | 244 | 0.0082 | -15 | c.738 others(32): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 54/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888590 | GCCTGCAC others(8): Show |
G | intron_variant | MODIFIER | HG02300.hp1 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0108 | 1 | 173 | 0.0058 | -15 | c.330 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888624 | TCACCCCT others(8): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0193 | 1 | 222 | 0.0045 | -15 | c.330 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888695 | TCACCCCT others(8): Show |
T | intron_variant | MODIFIER | HG01257.hp2 | a0012 | a0012c0025 | a0012c0025t0002 | a0012c0025t0002g0014 | 1 | 174 | 0.0057 | -15 | c.330 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888727 | ACCTGCCA others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 238 | 0.0042 | -15 | c.330 others(34): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132943433 | GAGGCCCA others(8): Show |
G | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG03017.hp1 others(1): Show |
a0021a0054a0057 | a0021c0033a0054c0105a0057c0104 | a0021c0033t0001a0021c0033t0004a0054c0105t0001others(1): Show | a0021c0033t0001g0237 a0021c0033t0004g0238 a0054c0105t0001g0239 others(1): Show |
4 | 244 | 0.0164 | -15 | c.-96 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 864 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35937104 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp1 HG03209.hp1 |
a0033a0038a0041 | a0033c0074a0038c0068a0041c0071 | a0033c0074t0003a0038c0068t0001a0041c0071t0001 | a0033c0074t0003g0133 a0038c0068t0001g0135 a0041c0071t0001g0134 |
3 | 89 | 0.0337 | -15 | c.402 others(32): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0030 | a0030c0047 | a0030c0047t0001 | a0030c0047t0001g0182 | 1 | 24 | 0.0417 | -15 | c.469 others(34): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9636176 | AAAAAAAG others(8): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0216 | 1 | 314 | 0.0032 | -15 | c.147 others(32): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9636192 | AAAGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp1 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0010 a0001c0002t0001g0079 a0001c0002t0001g0084 others(4): Show |
7 | 258 | 0.0271 | -15 | c.147 others(32): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96771653 | AAAACAAA others(8): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0118 | 1 | 266 | 0.0038 | -15 | c.828 others(34): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 60/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP57_chr1_43167330_43259358 | 43248820 | CATTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0275 | 1 | 306 | 0.0033 | -15 | c.353 others(34): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396424 | GAGAGAGA others(8): Show |
G | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 306 | 0.0033 | -15 | c.167 others(34): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20067757 | ATTATTAT others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(20): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0002g0035 others(20): Show |
23 | 234 | 0.0983 | -15 | c.144 others(32): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20072091 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(11): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0027a0002c0002others(3): Show | a0001c0001t0001a0001c0027t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0040 a0001c0027t0001g0170 a0002c0002t0001g0029 others(11): Show |
14 | 25 | 0.5600 | -15 | c.294 others(32): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20118286 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 234 | 0.0043 | -15 | c.859 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20175489 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG03130.hp2 HG03540.hp1 others(1): Show |
a0001a0004a0022 | a0001c0023a0004c0013a0022c0021 | a0001c0023t0003a0004c0013t0002a0004c0013t0003others(1): Show | a0001c0023t0003g0054 a0004c0013t0002g0047 a0004c0013t0003g0048 others(1): Show |
4 | 29 | 0.1379 | -15 | c.138 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20284289 | ATTTTATT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0025 | 1 | 234 | 0.0043 | -15 | c.279 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 22/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20357338 | GGGGAAGT others(8): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0100 | 1 | 234 | 0.0043 | -15 | c.351 others(34): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CFAP65_chr2_218997846_219046516 | 219043924 | CACACACA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205 | 1 | 320 | 0.0031 | -15 | c.-25 others(26): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 2409 | chr2 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90264105 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01123.hp1 others(3): Show |
a0002a0004a0005 | a0002c0001a0004c0007a0005c0009 | a0002c0001t0001a0004c0007t0001a0005c0009t0002 | a0002c0001t0001g0088 a0002c0001t0001g0117 a0004c0007t0001g0265 others(3): Show |
6 | 223 | 0.0269 | -15 | c.357 others(32): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90278570 | ATAATAAA others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0004a0001c0011t0003 | a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0011t0003g0157 others(2): Show |
5 | 336 | 0.0149 | -15 | c.115 others(34): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTTTC others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0006others(5): Show | a0001c0002t0002a0001c0004t0002a0001c0006t0001others(5): Show | a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0025 others(55): Show |
64 | 66 | 0.9697 | -15 | c.177 others(34): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90302582 | ATTTCCCC others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0254 | 1 | 336 | 0.0030 | -15 | c.205 others(34): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1969464 | AGCCCAGC others(8): Show |
A | intron_variant | MODIFIER | HG02080.hp1 HG02135.hp2 NA18747.hp1 others(3): Show |
a0006a0040 | a0006c0026a0006c0027a0006c0037others(1): Show | a0006c0026t0002a0006c0027t0001a0006c0037t0001others(1): Show | a0006c0026t0002g0011 a0006c0026t0002g0110 a0006c0027t0001g0266 others(3): Show |
6 | 274 | 0.0219 | -15 | c.104 others(32): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 10/38 | chr1 | TogoVar | |||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA19005.hp1 NA19066.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0003t0001g0305 |
3 | 15 | 0.2000 | -15 | c.146 others(32): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843505 | CCCTCCTC others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03486.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0243 a0004c0006t0001g0085 |
2 | 298 | 0.0067 | -15 | c.153 others(30): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843554 | CCTCCTTC others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0207 a0001c0001t0001g0221 others(2): Show |
5 | 324 | 0.0154 | -15 | c.153 others(30): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843557 | CCTTCTTC others(8): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01358.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0171 a0001c0001t0001g0181 others(5): Show |
8 | 239 | 0.0335 | -15 | c.153 others(30): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D1_chr17_43775435_43792620 | 43789384 | TCATACTT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18957.hp1 NA19003.hp2 NA19065.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 400 | 0.0125 | -15 | c.*50 others(26): Show |
CFAP97D1 | ENSG00000231256.8 | transcript | ENST00000449302.8 | protein_coding | 1765 | chr17 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2446368 | GTTATTAT others(8): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01884.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0001a0001c0012t0001 | a0001c0001t0001g0170 a0001c0001t0001g0314 a0001c0003t0001g0012 others(3): Show |
7 | 50 | 0.1400 | -15 | c.642 others(32): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFC1_chr2_130587165_130604575 | 130588077 | ATTATTAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 237 | 0.0042 | -15 | c.*47 others(26): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4087 | chr2 | TogoVar | |||||||
CFC1_chr2_130587165_130604575 | 130588080 | ATTATTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 232 | 0.0043 | -15 | c.*47 others(26): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4084 | chr2 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75346582 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA20300.hp1 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0115 a0001c0002t0001g0124 |
3 | 7 | 0.4286 | -15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75347350 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(4): Show |
7 | 312 | 0.0224 | -15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349650 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(1): Show |
4 | 295 | 0.0136 | -15 | c.651 others(34): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 867314 | CCTTAAAG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0022 | 1 | 286 | 0.0035 | -15 | c.*40 others(26): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3674 | chr19 | TogoVar | |||||||
CFHR1_chr1_196814731_196837189 | 196825348 | AGCATTTA others(8): Show |
A | intron_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show |
a0003a0006 | a0003c0005a0006c0008 | a0003c0005t0001a0006c0008t0001 | a0003c0005t0001g0008 a0006c0008t0001g0008 |
5 | 274 | 0.0182 | -15 | c.59- others(28): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109800321 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 68 | 0.0147 | -15 | c.57+ others(30): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201134640 | TTAAAATA others(8): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0043 | 1 | 157 | 0.0064 | -15 | c.388 others(32): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201165241 | CTTATTAT others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(36): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0001c0002t0004a0001c0002t0015others(17): Show | a0001c0002t0003g0009 a0001c0002t0003g0081 a0001c0002t0003g0088 others(35): Show |
39 | 58 | 0.6724 | -15 | c.*13 others(26): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 1301 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |