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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS6_chr2_168451272_168780134 | 168728330 | T | TTGGAA | intron_variant | MODIFIER | HG00558.hp2 HG01255.hp2 HG02055.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0098 others(20): Show |
23 | 174 | 0.1322 | 5 | c.845 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0019a0001c0002t0020others(1): Show | a0001c0002t0001g0001 a0001c0002t0001g0042 a0001c0002t0001g0089 others(23): Show |
28 | 36 | 0.7778 | 5 | c.118 others(24): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75404291 | T | TAAAAA | intron_variant | MODIFIER | HG02027.hp1 HG02132.hp1 HG02135.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 others(5): Show |
8 | 186 | 0.0430 | 5 | c.931 others(22): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75503870 | T | TAAATG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0031 a0001c0001t0001g0308 a0001c0001t0001g0309 others(228): Show |
231 | 334 | 0.6916 | 5 | c.231 others(22): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55809093 | C | CAAAAA | intron_variant | MODIFIER | NA18951.hp1 NA18953.hp2 NA19011.hp2 others(1): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0007 | a0001c0001t0001a0002c0002t0002a0008c0007t0001 | a0001c0001t0001g0018 a0001c0001t0001g0023 a0002c0002t0002g0071 others(1): Show |
4 | 24 | 0.1667 | 5 | c.131 others(24): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55835623 | A | AAAGAG | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(3): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0006t0002 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(3): Show |
6 | 85 | 0.0706 | 5 | c.-25 others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2528 | chr16 | TogoVar | |||||||
CES2_chr16_66930516_66950096 | 66944323 | A | AAAGAG | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00738.hp1 others(58): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 others(15): Show |
61 | 358 | 0.1704 | 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 | 300 | 0.0100 | 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 | a0001c0001t0001g0019 a0001c0001t0001g0156 a0001c0001t0001g0176 |
3 | 304 | 0.0099 | 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 | a0001c0001t0002g0000 a0001c0001t0004g0000 |
4 | 417 | 0.0096 | 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 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(3): Show |
6 | 46 | 0.1304 | 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 | 215 | 0.0605 | 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 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0003g0008 others(3): Show |
47 | 235 | 0.2000 | 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(110): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0001a0001c0007t0001a0001c0008t0002others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(98): Show |
113 | 374 | 0.3021 | 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 | a0001c0001t0001g0047 a0001c0001t0001g0124 |
2 | 201 | 0.0100 | 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 | a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 others(5): Show |
8 | 181 | 0.0442 | 5 | c.960 others(20): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119545051 | A | AGAGGG | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01346.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 |
3 | 224 | 0.0134 | 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(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(124): Show |
129 | 158 | 0.8165 | 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 | a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0002g0165 |
3 | 165 | 0.0182 | 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 | a0003c0003t0001g0074 a0003c0003t0002g0065 a0003c0003t0002g0107 |
3 | 165 | 0.0182 | 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 | a0002c0002t0001g0097 a0003c0003t0001g0042 a0003c0003t0001g0114 others(16): Show |
19 | 46 | 0.4130 | 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 | a0004c0005t0002g0037 a0004c0005t0002g0038 a0004c0010t0001g0005 others(1): Show |
4 | 224 | 0.0179 | 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 |
a0001 | a0001c0004a0001c0009 | a0001c0004t0001a0001c0009t0001 | a0001c0004t0001g0134 a0001c0004t0001g0149 a0001c0009t0001g0059 others(3): Show |
6 | 30 | 0.2000 | 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 |
a0001a0002a0007 | a0001c0003a0002c0001a0007c0020 | a0001c0003t0001a0002c0001t0001a0007c0020t0001 | a0001c0003t0001g0087 a0001c0003t0001g0095 a0001c0003t0001g0341 others(50): Show |
54 | 108 | 0.5000 | 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 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0061 others(2): Show |
5 | 322 | 0.0155 | 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 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0089 a0001c0003t0001g0094 a0001c0003t0001g0102 others(3): Show |
6 | 323 | 0.0186 | 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 |
a0001a0007 | a0001c0004a0001c0005a0001c0006others(2): Show | a0001c0004t0001a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0142 others(12): Show |
15 | 37 | 0.4054 | 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 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0060 others(3): Show |
6 | 352 | 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 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0058 a0001c0009t0001g0059 a0001c0009t0001g0061 others(1): Show |
4 | 350 | 0.0114 | 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 | a0001c0001t0001g0093 a0002c0002t0001g0007 a0002c0002t0001g0071 |
9 | 251 | 0.0359 | 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 | a0001c0001t0001g0011 a0001c0001t0001g0073 |
7 | 171 | 0.0409 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0051 |
3 | 398 | 0.0075 | 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 | a0001c0001t0009a0001c0001t0010a0001c0001t0021others(1): Show | a0001c0001t0009g0081 a0001c0001t0009g0185 a0001c0001t0009g0194 others(3): Show |
6 | 285 | 0.0211 | 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 | a0001c0001t0003g0048 a0001c0001t0003g0210 |
3 | 347 | 0.0086 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(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 | a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0075 others(10): Show |
13 | 29 | 0.4483 | 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 | a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0005t0001g0058 others(2): Show |
5 | 85 | 0.0588 | 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 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(4): Show |
7 | 12 | 0.5833 | 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 | a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0052 others(6): Show |
9 | 35 | 0.2571 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(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 | a0001c0001t0002g0051 a0001c0003t0002g0084 a0002c0002t0001g0021 others(1): Show |
4 | 93 | 0.0430 | 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 | a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0012 |
3 | 91 | 0.0330 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(4): Show |
7 | 68 | 0.1029 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0057 |
3 | 29 | 0.1034 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(25): Show |
28 | 84 | 0.3333 | 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 | a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0002t0005g0015 |
5 | 344 | 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 | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 others(14): Show |
21 | 166 | 0.1265 | 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 | a0003c0003t0001g0003 a0003c0003t0001g0044 a0003c0003t0001g0046 others(15): Show |
37 | 380 | 0.0974 | 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 | a0001c0001t0005g0018 a0001c0001t0005g0032 a0001c0001t0005g0055 others(2): Show |
8 | 369 | 0.0217 | 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 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(3): Show |
7 | 78 | 0.0897 | 5 | c.155 others(20): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 1/5 | chr8 | TogoVar |