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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CES2_chr16_66930516_66950096 | 66944323 | A | AAAGAG | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00738.hp1 others(58): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0008others(15): Show | 61 | 374 | 0.1631 | 5 | c.*29 others(14): Show |
CES2 | ENSG00000172831.14 | transcript | ENST00000317091.10 | protein_coding | 12/12 | 300 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
CES2_chr16_66930516_66950096 | 66944323 | A | AGAGAG | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0004 | 3 | 374 | 0.0080 | 5 | c.*29 others(14): Show |
CES2 | ENSG00000172831.14 | transcript | ENST00000317091.10 | protein_coding | 12/12 | 299 | chr16 | TogoVar | |||||
CES4A_chr16_66983589_67015417 | 67013882 | A | AGCCGG | downstream_gene_variant | MODIFIER | NA19063.hp1 NA19063.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0158a0001c0001t0001g0178 | 3 | 306 | 0.0098 | 5 | c.*47 others(16): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 3466 | chr16 | TogoVar | ||||||
CETN1_chr18_575380_587114 | 576499 | A | AGGAAG | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0000a0001c0001t0004g0000 | 4 | 422 | 0.0095 | 5 | c.-39 others(16): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3880 | chr18 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126411361 | G | GTTTTT | intron_variant | MODIFIER | HG02300.hp1 HG02559.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0064a0001c0001t0001g0067a0001c0001t0001g0070others(3): Show | 6 | 422 | 0.0142 | 5 | c.131 others(22): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP126_chr1_161359733_161372876 | 161361842 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02040.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 13 | 350 | 0.0371 | 5 | c.*31 others(16): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 2890 | chr1 | TogoVar | ||||||
CFAP126_chr1_161359733_161372876 | 161371698 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01071.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0003g0008others(3): Show | 47 | 350 | 0.1343 | 5 | c.-38 others(16): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 3823 | chr1 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87409023 | T | TTTATG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(111): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0001a0001c0007t0001a0001c0008t0002others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(99): Show | 114 | 376 | 0.3032 | 5 | c.-5- others(18): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CFAP20DC_chr3_58737008_59055025 | 58963241 | T | TGTGTG | intron_variant | MODIFIER | NA18941.hp1 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0124 | 2 | 204 | 0.0098 | 5 | c.279 others(24): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169651226 | G | GAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01256.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0018others(5): Show | 8 | 390 | 0.0205 | 5 | c.960 others(20): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169656964 | C | CAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 HG02056.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106a0001c0001t0003g0109a0001c0001t0003g0110others(3): Show | 6 | 390 | 0.0154 | 5 | c.820 others(22): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119545051 | A | AGAGGG | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01346.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219a0002c0002t0001g0220a0002c0002t0001g0221 | 3 | 226 | 0.0133 | 5 | c.-48 others(20): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP221_chr2_119539449_119661661 | 119562253 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(126): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(124): Show | 129 | 226 | 0.5708 | 5 | c.527 others(20): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP221_chr2_119539449_119661661 | 119628289 | T | TCTCTG | intron_variant | MODIFIER | HG00597.hp1 HG01516.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0196a0001c0001t0001g0204a0001c0001t0002g0165 | 3 | 226 | 0.0133 | 5 | c.165 others(22): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119628289 | T | TCTGGG | intron_variant | MODIFIER | NA18946.hp1 NA18963.hp2 NA19084.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0075a0003c0003t0002g0066a0003c0003t0002g0108 | 3 | 226 | 0.0133 | 5 | c.165 others(22): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GTGTGT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01106.hp1 others(16): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0004 | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0002c0002t0001g0098a0003c0003t0001g0042a0003c0003t0001g0114others(16): Show | 19 | 226 | 0.0841 | 5 | c.165 others(22): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | chr2 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119636398 | A | ATACTC | intron_variant | MODIFIER | HG03209.hp2 HG03486.hp2 NA18975.hp1 others(1): Show |
a0004 | a0004c0005a0004c0010 | a0004c0005t0002a0004c0010t0001 | a0004c0005t0002g0037a0004c0005t0002g0038a0004c0010t0001g0005others(1): Show | 4 | 226 | 0.0177 | 5 | c.197 others(24): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121952240 | T | TAAAAA | intron_variant | MODIFIER | HG04184.hp2 HG04199.hp1 NA18942.hp1 others(3): Show |
a0002a0003 | a0002c0004a0003c0009 | a0002c0004t0001a0003c0009t0001 | a0002c0004t0001g0304a0002c0004t0001g0317a0003c0009t0001g0059others(3): Show | 6 | 354 | 0.0170 | 5 | c.132 others(22): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121954636 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(51): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0020 | a0001c0001t0001a0003c0003t0001a0012c0020t0001 | a0001c0001t0001g0001a0001c0001t0001g0116a0001c0001t0001g0117others(50): Show | 54 | 354 | 0.1525 | 5 | c.153 others(22): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121966206 | T | TCCCTC | intron_variant | MODIFIER | NA18942.hp1 NA18978.hp1 NA18999.hp1 others(2): Show |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0058a0003c0009t0001g0059a0003c0009t0001g0061others(2): Show | 5 | 354 | 0.0141 | 5 | c.249 others(22): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121966226 | C | CCCCTT | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG03490.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0089a0003c0003t0001g0100a0003c0003t0001g0102others(3): Show | 6 | 354 | 0.0170 | 5 | c.249 others(22): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121978393 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp2 HG02809.hp1 others(12): Show |
a0002a0005a0006others(1): Show | a0002c0004a0005c0005a0006c0006others(2): Show | a0002c0004t0001a0005c0005t0001a0006c0006t0001others(2): Show | a0002c0004t0001g0281a0002c0004t0001g0282a0002c0004t0001g0309others(12): Show | 15 | 354 | 0.0424 | 5 | c.300 others(24): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121994065 | G | GGAGGT | intron_variant | MODIFIER | NA18942.hp1 NA18978.hp1 NA18981.hp1 others(3): Show |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0058a0003c0009t0001g0059a0003c0009t0001g0060others(3): Show | 6 | 354 | 0.0170 | 5 | c.300 others(24): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121997751 | G | GTTTTT | intron_variant | MODIFIER | NA18942.hp1 NA18999.hp1 NA19055.hp2 others(1): Show |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0058a0003c0009t0001g0059a0003c0009t0001g0061others(1): Show | 4 | 354 | 0.0113 | 5 | c.300 others(24): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109107725 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0093a0002c0002t0001g0007a0002c0002t0001g0071 | 9 | 404 | 0.0223 | 5 | c.198 others(20): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109111472 | C | CAAAAA | intron_variant | MODIFIER | NA18952.hp1 NA18979.hp2 NA18990.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0073 | 7 | 404 | 0.0173 | 5 | c.81+ others(20): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109113408 | G | GAGAGA | upstream_gene_variant | MODIFIER | NA18612.hp1 NA18986.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0051 | 3 | 404 | 0.0074 | 5 | c.-73 others(14): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 662 | chr1 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32596718 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02300.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0021others(1): Show | a0001c0001t0008g0081a0001c0001t0008g0187a0001c0001t0008g0196others(3): Show | 6 | 416 | 0.0144 | 5 | c.*51 others(16): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 2635 | chr21 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATAT | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048a0001c0001t0003g0211 | 3 | 416 | 0.0072 | 5 | c.139 others(20): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80379594 | T | TTTTTA | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00642.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(11): Show | 14 | 96 | 0.1458 | 5 | c.242 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80413750 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01109.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0062a0001c0001t0001g0069others(10): Show | 13 | 96 | 0.1354 | 5 | c.242 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80576197 | A | AAATAT | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0005 | a0001c0004t0001a0002c0005t0001 | a0001c0004t0001g0065a0001c0004t0001g0066a0002c0005t0001g0058others(2): Show | 5 | 96 | 0.0521 | 5 | c.243 others(22): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80604892 | G | GAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG02280.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0032others(4): Show | 7 | 96 | 0.0729 | 5 | c.333 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80725111 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0048a0001c0001t0001g0052others(6): Show | 9 | 96 | 0.0938 | 5 | c.333 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80800400 | T | TATATA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(35): Show | 38 | 96 | 0.3958 | 5 | c.334 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80880727 | A | AAAAAT | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0002a0002c0002t0001 | a0001c0001t0002g0051a0001c0003t0002g0084a0002c0002t0001g0021others(1): Show | 4 | 96 | 0.0417 | 5 | c.476 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80880743 | A | AAAATT | intron_variant | MODIFIER | NA18963.hp1 NA18984.hp1 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006a0002c0002t0001g0008a0002c0002t0001g0012 | 3 | 96 | 0.0313 | 5 | c.476 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80880748 | A | AAAATT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0011others(4): Show | 7 | 96 | 0.0729 | 5 | c.476 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80880753 | A | AAAATT | intron_variant | MODIFIER | NA18964.hp1 NA19005.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0057 | 3 | 96 | 0.0313 | 5 | c.476 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP299_chr4_80330730_80968750 | 80891785 | A | AAAAAT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(25): Show | 28 | 96 | 0.2917 | 5 | c.476 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CFAP300_chr11_102042437_102089554 | 102046433 | A | AAGGTC | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01978.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0005 | a0001c0001t0006g0207a0001c0001t0006g0208a0001c0002t0005g0015 | 5 | 346 | 0.0145 | 5 | c.-10 others(16): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 1003 | chr11 | TogoVar | ||||||
CFAP300_chr11_102042437_102089554 | 102054728 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01361.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0035a0001c0001t0001g0036others(14): Show | 21 | 346 | 0.0607 | 5 | c.193 others(22): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP36_chr2_55514718_55550079 | 55518462 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG01169.hp1 others(34): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003a0003c0003t0001g0044a0003c0003t0001g0046others(15): Show | 37 | 400 | 0.0925 | 5 | c.-13 others(16): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 1255 | chr2 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95268751 | C | CGGGCG | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0018a0001c0001t0005g0032a0001c0001t0005g0055others(2): Show | 8 | 388 | 0.0206 | 5 | c.155 others(20): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
CFAP418_chr8_95239913_95274201 | 95268776 | G | GGGGCA | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp2 HG03516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0018 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(3): Show | 7 | 388 | 0.0180 | 5 | c.155 others(20): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104136349 | C | CTTATT | intron_variant | MODIFIER | HG02165.hp1 HG02280.hp1 HG02622.hp2 others(6): Show |
a0001a0007a0008 | a0001c0001a0001c0010a0007c0025others(1): Show | a0001c0001t0001a0001c0010t0001a0007c0025t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0046a0001c0001t0001g0048others(6): Show | 9 | 306 | 0.0294 | 5 | c.443 others(24): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 34/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104189842 | A | AAAAAC | intron_variant | MODIFIER | HG00597.hp2 NA18954.hp2 NA18963.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272a0001c0001t0001g0277a0001c0001t0001g0287others(1): Show | 4 | 306 | 0.0131 | 5 | c.154 others(24): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 12/37 | chr10 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104210783 | C | CTTTTT | intron_variant | MODIFIER | HG01952.hp1 HG02300.hp1 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261a0001c0001t0001g0262a0001c0001t0001g0263others(4): Show | 7 | 306 | 0.0229 | 5 | c.735 others(22): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 5/37 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113302457 | T | TAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG01243.hp2 others(3): Show |
a0003a0006 | a0003c0003a0003c0007a0003c0019others(1): Show | a0003c0003t0003a0003c0007t0014a0003c0019t0014others(1): Show | a0003c0003t0003g0125a0003c0003t0003g0136a0003c0003t0003g0159others(3): Show | 6 | 348 | 0.0172 | 5 | c.507 others(24): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 32/34 | chr3 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113312238 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG02055.hp1 HG02723.hp1 others(3): Show |
a0004a0009a0011 | a0004c0004a0009c0011a0011c0017 | a0004c0004t0012a0009c0011t0023a0009c0011t0047others(2): Show | a0004c0004t0012g0303a0009c0011t0023g0026a0009c0011t0047g0172others(3): Show | 6 | 348 | 0.0172 | 5 | c.451 others(24): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar |