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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP58_chr10_104348833_104460102 | 104396434 | GAGAGA | G | intron_variant | MODIFIER | HG00408.hp2 NA18975.hp1 NA19058.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0071 a0001c0001t0001g0147 a0005c0008t0001g0141 |
3 | 308 | 0.0097 | -5 | c.167 others(24): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104402084 | CAACTT | C | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG00733.hp2 others(29): Show |
a0001a0006a0007 | a0001c0001a0006c0010a0007c0014 | a0001c0001t0001a0001c0001t0002a0006c0010t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0034 others(29): Show |
32 | 308 | 0.1039 | -5 | c.203 others(24): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104438369 | TTTTTG | T | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG02970.hp2 others(4): Show |
a0003a0004a0013 | a0003c0005a0004c0006a0013c0020 | a0003c0005t0001a0004c0006t0002a0013c0020t0001 | a0003c0005t0001g0060 a0003c0005t0001g0075 a0003c0005t0001g0092 others(4): Show |
7 | 308 | 0.0227 | -5 | c.225 others(24): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20066821 | AAAAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01074.hp1 others(17): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0004g0014 others(17): Show |
20 | 236 | 0.0848 | -5 | c.144 others(22): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20090688 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(174): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0003a0001c0006others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0079 others(174): Show |
177 | 236 | 0.7500 | -5 | c.567 others(20): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20175489 | TTTTTG | T | intron_variant | MODIFIER | HG01433.hp1 HG01496.hp1 HG01975.hp2 others(10): Show |
a0001a0008a0018others(1): Show | a0001c0001a0001c0003a0008c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0183 others(10): Show |
13 | 236 | 0.0551 | -5 | c.138 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20205061 | TTAATA | T | intron_variant | MODIFIER | HG02615.hp1 HG03098.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004a0001c0003t0007 | a0001c0003t0003g0142 a0001c0003t0003g0175 a0001c0003t0004g0004 others(2): Show |
5 | 236 | 0.0212 | -5 | c.193 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20254155 | TCTCCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(158): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0006others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0154 others(158): Show |
161 | 236 | 0.6822 | -5 | c.232 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20254180 | CCTCCT | C | intron_variant | MODIFIER | HG03471.hp1 NA18966.hp2 NA18970.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0029 a0002c0002t0001g0051 a0002c0002t0002g0134 others(1): Show |
4 | 236 | 0.0170 | -5 | c.232 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20259245 | CTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01168.hp1 others(20): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0024a0001c0026others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0024t0008others(17): Show | a0001c0001t0001g0157 a0001c0001t0002g0050 a0001c0024t0008g0176 others(20): Show |
23 | 236 | 0.0975 | -5 | c.232 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20269903 | GTGACC | G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00735.hp1 others(60): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0208 others(60): Show |
63 | 236 | 0.2670 | -5 | c.250 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20284250 | CTTTAT | C | intron_variant | MODIFIER | HG00099.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0010others(1): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0003g0090 a0001c0001t0003g0093 a0002c0002t0002g0097 others(3): Show |
6 | 236 | 0.0254 | -5 | c.279 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20284299 | ATTTTG | A | intron_variant | MODIFIER | HG01361.hp1 HG01975.hp1 NA18964.hp2 others(2): Show |
a0001a0002a0029 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0183 a0001c0001t0002g0225 a0002c0002t0002g0024 others(2): Show |
5 | 236 | 0.0212 | -5 | c.279 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 22/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320428 | GTAATA | G | intron_variant | MODIFIER | HG01891.hp2 HG03195.hp1 |
a0001 | a0001c0003a0001c0023 | a0001c0003t0004a0001c0023t0003 | a0001c0003t0004g0004 a0001c0023t0003g0054 |
2 | 236 | 0.0085 | -5 | c.342 others(26): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20352660 | TCTCTC | T | intron_variant | MODIFIER | HG00423.hp1 NA19081.hp1 |
a0001a0011 | a0001c0001a0011c0050 | a0001c0001t0002a0011c0050t0002 | a0001c0001t0002g0146 a0011c0050t0002g0168 |
2 | 236 | 0.0085 | -5 | c.351 others(24): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CFAP68_chr11_111874541_111890975 | 111890557 | ATATTC | A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0004g0008 a0001c0001t0004g0024 a0001c0001t0009g0005 others(2): Show |
11 | 392 | 0.0281 | -5 | c.*66 others(16): Show |
CFAP68 | ENSG00000137720.8 | transcript | ENST00000260276.8 | protein_coding | 4583 | chr11 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90264105 | ATATAT | A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01433.hp1 others(12): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0002a0001c0004t0002a0001c0006t0001others(4): Show | a0001c0002t0002g0127 a0001c0002t0002g0141 a0001c0002t0002g0142 others(10): Show |
15 | 338 | 0.0444 | -5 | c.357 others(22): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4/22 | chr7 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90271010 | AGTAAT | A | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0138 others(1): Show |
4 | 338 | 0.0118 | -5 | c.533 others(20): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTT | G | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01256.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0013a0002c0001others(2): Show | a0001c0004t0002a0001c0013t0002a0002c0001t0001others(2): Show | a0001c0004t0002g0210 a0001c0004t0002g0213 a0001c0004t0002g0231 others(9): Show |
13 | 338 | 0.0385 | -5 | c.177 others(24): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132416329 | ATTTTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02647.hp1 others(10): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 others(10): Show |
13 | 322 | 0.0404 | -5 | c.195 others(22): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132481958 | TTGGGG | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(30): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0102 a0001c0001t0001g0233 a0001c0001t0001g0293 others(30): Show |
33 | 322 | 0.1025 | -5 | c.196 others(24): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132481959 | TGGGGG | T | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG02109.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0130 others(15): Show |
18 | 322 | 0.0559 | -5 | c.196 others(24): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132483271 | TAAAAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01934.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0080 others(19): Show |
22 | 322 | 0.0683 | -5 | c.196 others(24): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132487451 | TAACTC | T | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02622.hp1 |
a0005 | a0005c0008a0005c0015 | a0005c0008t0001a0005c0008t0002a0005c0015t0002 | a0005c0008t0001g0261 a0005c0008t0002g0001 a0005c0015t0002g0182 |
3 | 322 | 0.0093 | -5 | c.196 others(24): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132529833 | AAAAAG | A | intron_variant | MODIFIER | HG00741.hp1 HG01358.hp2 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0049 others(4): Show |
7 | 322 | 0.0217 | -5 | c.525 others(22): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132544490 | ATTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02074.hp1 others(14): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0078 a0001c0001t0001g0079 others(14): Show |
17 | 322 | 0.0528 | -5 | c.732 others(22): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP90_chr5_7825378_7856133 | 7830091 | GAAAAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(179): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(74): Show |
182 | 420 | 0.4333 | -5 | c.*17 others(16): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 286 | chr5 | TogoVar | |||||||
CFAP91_chr3_119698022_119772102 | 119720405 | AAAAAG | A | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0013a0001c0002t0022a0001c0007t0008 | a0001c0002t0013g0102 a0001c0002t0022g0099 a0001c0007t0008g0004 others(4): Show |
9 | 386 | 0.0233 | -5 | c.682 others(22): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119738332 | CTTTTT | C | intron_variant | MODIFIER | HG02040.hp1 HG02165.hp2 HG02258.hp1 others(13): Show |
a0001a0005a0010 | a0001c0001a0001c0003a0001c0014others(3): Show | a0001c0001t0001a0001c0003t0018a0001c0014t0016others(3): Show | a0001c0001t0001g0129 a0001c0001t0001g0172 a0001c0001t0001g0174 others(11): Show |
16 | 386 | 0.0415 | -5 | c.146 others(22): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128924432 | CTTTTT | C | intron_variant | MODIFIER | HG01928.hp1 HG01981.hp1 HG02040.hp1 others(22): Show |
a0001a0002a0018 | a0001c0001a0002c0004a0018c0026 | a0001c0001t0001a0002c0004t0002a0018c0026t0002 | a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0255 others(21): Show |
25 | 342 | 0.0731 | -5 | c.275 others(24): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
CFAP92_chr3_128904873_128999076 | 128975123 | AAAAAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01109.hp2 others(9): Show |
a0001a0006 | a0001c0003a0001c0005a0001c0009others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(1): Show | a0001c0003t0001g0013 a0001c0005t0001g0150 a0001c0005t0001g0206 others(9): Show |
12 | 342 | 0.0351 | -5 | c.102 others(22): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CFAP95_chr9_69815817_69911227 | 69879579 | TTAACA | T | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0005t0001a0001c0007t0001 | a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0161 others(6): Show |
9 | 380 | 0.0237 | -5 | c.450 others(22): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114214912 | CTTAAT | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(95): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0044 others(82): Show |
98 | 400 | 0.2450 | -5 | c.291 others(22): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185179366 | AAGTAG | A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01081.hp2 others(22): Show |
a0001 | a0001c0003a0001c0005a0001c0016 | a0001c0003t0004a0001c0005t0005a0001c0016t0005 | a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 others(21): Show |
25 | 350 | 0.0714 | -5 | c.105 others(24): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2426309 | AGGCCC | A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00738.hp2 others(49): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0001c0006others(8): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(8): Show | a0001c0002t0001g0004 a0001c0002t0001g0028 a0001c0002t0001g0131 others(48): Show |
52 | 350 | 0.1486 | -5 | c.-17 others(20): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFB_chr6_31941095_31957084 | 31955769 | CTTGTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp2 others(44): Show |
a0001a0004a0007 | a0001c0001a0004c0007a0007c0010 | a0001c0001t0001a0004c0007t0001a0007c0010t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0015 others(3): Show |
47 | 431 | 0.1091 | -5 | c.*37 others(16): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 3686 | chr6 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75310458 | TTTTTC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(1): Show |
4 | 314 | 0.0127 | -5 | c.651 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75356907 | CTTTCT | C | intron_variant | MODIFIER | HG01257.hp2 HG01433.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0190 a0001c0001t0001g0191 others(7): Show |
10 | 314 | 0.0319 | -5 | c.650 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75358139 | AATAAT | A | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01433.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(11): Show |
14 | 314 | 0.0446 | -5 | c.650 others(24): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75400285 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(132): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(132): Show |
135 | 314 | 0.4299 | -5 | c.531 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75402913 | ATATAT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(13): Show |
16 | 314 | 0.0510 | -5 | c.531 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75410055 | CAAAAA | C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 others(3): Show |
6 | 314 | 0.0191 | -5 | c.530 others(22): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CFHR1_chr1_196814731_196837189 | 196830403 | GATATT | G | intron_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show |
a0003a0006 | a0003c0005a0006c0008 | a0003c0005t0001a0006c0008t0001 | a0003c0005t0001g0008 a0006c0008t0001g0008 |
5 | 275 | 0.0182 | -5 | c.608 others(18): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR2_chr1_196938738_196964622 | 196964262 | ATTGTT | A | downstream_gene_variant | MODIFIER | HG02004.hp1 HG02165.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 3 | 370 | 0.0081 | -5 | c.*51 others(16): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 4641 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885545 | TATATC | T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02647.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0051 others(4): Show |
9 | 350 | 0.0257 | -5 | c.-26 others(16): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2506 | chr1 | TogoVar | |||||||
CFHR5_chr1_196972556_197014678 | 196973802 | TTATTA | T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp2 others(32): Show |
a0001a0006a0008 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0007t0003others(3): Show | a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 others(28): Show |
35 | 356 | 0.0983 | -5 | c.-38 others(16): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 3753 | chr1 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196702535 | AAAAAC | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01099.hp1 others(39): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0039 others(39): Show |
42 | 308 | 0.1364 | -5 | c.133 others(26): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753593 | AAATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(101): Show |
a0001a0010a0011others(1): Show | a0001c0001a0001c0002a0010c0015others(2): Show | a0001c0001t0001a0001c0002t0001a0010c0015t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(99): Show |
104 | 354 | 0.2938 | -5 | c.905 others(22): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201115041 | CTGGAG | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0042a0001c0002t0045a0001c0002t0046 | a0001c0002t0042g0045 a0001c0002t0045g0043 a0001c0002t0046g0018 |
3 | 234 | 0.0128 | -5 | c.-15 others(16): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 1122 | chr2 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201124322 | GTGTTT | G | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp2 HG06807.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0041a0001c0007t0061a0001c0007t0062 | a0001c0002t0041g0042 a0001c0007t0061g0004 a0001c0007t0062g0004 |
3 | 234 | 0.0128 | -5 | c.-13 others(24): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |