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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP299_chr4_80330730_80968750 | 80800193 | TATATA | T | intron_variant | MODIFIER | HG02486.hp1 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0036 a0001c0003t0002g0037 |
2 | 96 | 0.0208 | -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 | 80800479 | TATATA | T | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0002a0002c0006t0001 | a0001c0003t0002g0092 a0002c0006t0001g0088 |
2 | 96 | 0.0208 | -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 | 80851896 | CGATAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(13): Show |
16 | 96 | 0.1667 | -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 | 80891830 | GAAAAA | G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(3): Show |
6 | 96 | 0.0625 | -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 | 80937307 | TCTTTC | T | intron_variant | MODIFIER | HG02965.hp1 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0051 a0002c0002t0001g0021 |
2 | 96 | 0.0208 | -5 | c.477 others(22): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80955030 | AAAAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG02280.hp1 NA18522.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0040 others(3): Show |
6 | 96 | 0.0625 | -5 | c.607 others(22): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 5/5 | chr4 | TogoVar | |||||||
CFAP300_chr11_102042437_102089554 | 102085376 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(169): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
172 | 346 | 0.4971 | -5 | c.*21 others(16): Show |
CFAP300 | ENSG00000137691.13 | transcript | ENST00000434758.7 | protein_coding | 823 | chr11 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44344382 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01884.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0007others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0222 others(22): Show |
27 | 436 | 0.0619 | -5 | c.-51 others(16): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 4993 | chr21 | TogoVar | |||||||
CFAP418_chr8_95239913_95274201 | 95256185 | TAATGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01099.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0018 a0001c0001t0005g0032 a0001c0001t0005g0037 others(3): Show |
10 | 388 | 0.0258 | -5 | c.374 others(22): Show |
CFAP418 | ENSG00000156172.6 | transcript | ENST00000286688.6 | protein_coding | 4/5 | chr8 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104136258 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0258 others(5): Show |
8 | 306 | 0.0261 | -5 | c.443 others(24): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 34/37 | chr10 | TogoVar | |||||||
CFAP43_chr10_104124888_104237364 | 104209984 | ATTATT | A | intron_variant | MODIFIER | HG01175.hp1 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0006t0001g0013 others(1): Show |
4 | 306 | 0.0131 | -5 | c.735 others(22): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 5/37 | chr10 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113353338 | GATAGA | G | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02109.hp2 others(18): Show |
a0001a0026 | a0001c0001a0026c0036 | a0001c0001t0009a0001c0001t0024a0001c0001t0026others(7): Show | a0001c0001t0009g0330 a0001c0001t0009g0332 a0001c0001t0009g0333 others(18): Show |
21 | 348 | 0.0603 | -5 | c.306 others(24): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 22/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113422072 | AAAATT | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(85): Show |
a0001a0003a0006others(9): Show | a0001c0001a0003c0003a0003c0007others(11): Show | a0001c0001t0009a0001c0001t0026a0001c0001t0038others(35): Show | a0001c0001t0009g0330 a0001c0001t0009g0332 a0001c0001t0009g0333 others(83): Show |
88 | 348 | 0.2529 | -5 | c.408 others(22): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 4/34 | chr3 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132818989 | ATAAAT | A | intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 NA19004.hp2 others(1): Show |
a0009a0019a0082 | a0009c0044a0019c0027a0082c0104 | a0009c0044t0001a0019c0027t0002a0082c0104t0002 | a0009c0044t0001g0154 a0019c0027t0002g0028 a0019c0027t0002g0077 others(1): Show |
4 | 246 | 0.0163 | -5 | c.711 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132855165 | AATTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(165): Show |
a0002a0003a0004others(62): Show | a0002c0002a0002c0003a0002c0023others(83): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(86): Show | a0002c0002t0001g0126 a0002c0002t0001g0140 a0002c0002t0001g0159 others(164): Show |
168 | 246 | 0.6829 | -5 | c.557 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887562 | TCTCTC | T | intron_variant | MODIFIER | HG00544.hp1 NA18940.hp2 NA18960.hp2 others(1): Show |
a0013a0067 | a0013c0013a0067c0043 | a0013c0013t0001a0067c0043t0001 | a0013c0013t0001g0197 a0013c0013t0001g0198 a0013c0013t0001g0202 others(1): Show |
4 | 246 | 0.0163 | -5 | c.330 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887876 | TCTCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show |
a0013a0018a0030others(3): Show | a0013c0013a0018c0020a0030c0058others(3): Show | a0013c0013t0001a0018c0020t0001a0030c0058t0001others(3): Show | a0013c0013t0001g0197 a0013c0013t0001g0198 a0013c0013t0001g0202 others(6): Show |
9 | 246 | 0.0366 | -5 | c.330 others(24): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35939284 | AAATTT | A | intron_variant | MODIFIER | NA20300.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0212 | 1 | 216 | 0.0046 | -5 | c.402 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 2/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36000673 | CTAAGT | C | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02723.hp2 others(3): Show |
a0010a0013a0033others(2): Show | a0010c0054a0013c0052a0013c0055others(3): Show | a0010c0054t0001a0013c0052t0001a0013c0055t0002others(3): Show | a0010c0054t0001g0201 a0013c0052t0001g0017 a0013c0055t0002g0191 others(3): Show |
6 | 216 | 0.0278 | -5 | c.332 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 20/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36015242 | CATAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(55): Show |
a0001a0002a0003others(19): Show | a0001c0029a0002c0002a0002c0013others(29): Show | a0001c0029t0001a0002c0002t0001a0002c0013t0001others(29): Show | a0001c0029t0001g0083 a0002c0002t0001g0150 a0002c0002t0001g0151 others(55): Show |
58 | 216 | 0.2685 | -5 | c.355 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 22/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36042579 | AAATAT | A | intron_variant | MODIFIER | NA18940.hp1 | a0047 | a0047c0040 | a0047c0040t0001 | a0047c0040t0001g0021 | 1 | 216 | 0.0046 | -5 | c.400 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 25/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36054430 | CAATTA | C | intron_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0028 | a0006c0028t0001 | a0006c0028t0001g0186 | 1 | 216 | 0.0046 | -5 | c.421 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 26/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36075204 | TATTTA | T | intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0074 | a0003c0074t0001 | a0003c0074t0001g0139 | 1 | 216 | 0.0046 | -5 | c.469 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | chrX | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 36077183 | CTTTTT | C | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03098.hp1 |
a0007a0013a0038 | a0007c0077a0013c0055a0038c0072 | a0007c0077t0001a0013c0055t0002a0038c0072t0001 | a0007c0077t0001g0140 a0013c0055t0002g0191 a0038c0072t0001g0136 |
3 | 216 | 0.0139 | -5 | c.469 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 29/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36138806 | ATTATC | A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02055.hp1 others(24): Show |
a0005a0006a0012others(9): Show | a0005c0005a0005c0015a0006c0008others(12): Show | a0005c0005t0001a0005c0015t0001a0006c0008t0001others(12): Show | a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 others(24): Show |
27 | 216 | 0.1250 | -5 | c.553 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 35/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36240419 | TATATC | T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0029a0002c0002others(9): Show | a0001c0001t0001a0001c0029t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0036 a0001c0001t0001g0084 a0001c0029t0001g0083 others(36): Show |
39 | 216 | 0.1806 | -5 | c.733 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36243624 | AAACTT | A | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG01884.hp2 others(13): Show |
a0005a0006a0009others(8): Show | a0005c0015a0006c0008a0009c0007others(8): Show | a0005c0015t0001a0006c0008t0001a0009c0007t0001others(8): Show | a0005c0015t0001g0199 a0006c0008t0001g0188 a0006c0008t0001g0189 others(13): Show |
16 | 216 | 0.0741 | -5 | c.733 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36248170 | GTATTA | G | intron_variant | MODIFIER | HG02818.hp2 | a0017 | a0017c0070 | a0017c0070t0001 | a0017c0070t0001g0138 | 1 | 216 | 0.0046 | -5 | c.733 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36248390 | ATATAT | A | intron_variant | MODIFIER | HG03098.hp1 | a0038 | a0038c0072 | a0038c0072t0001 | a0038c0072t0001g0136 | 1 | 216 | 0.0046 | -5 | c.733 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36248427 | TATATA | T | intron_variant | MODIFIER | HG02886.hp2 | a0010 | a0010c0054 | a0010c0054t0001 | a0010c0054t0001g0201 | 1 | 216 | 0.0046 | -5 | c.733 others(24): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 48/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36330820 | CCTCTA | C | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 216 | 0.0046 | -5 | c.844 others(26): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 57/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36352981 | ATATTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(40): Show |
a0002a0003a0008others(5): Show | a0002c0002a0002c0013a0002c0067others(11): Show | a0002c0002t0001a0002c0013t0001a0002c0067t0001others(11): Show | a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 others(40): Show |
43 | 216 | 0.1991 | -5 | c.869 others(22): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 59/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9572409 | GTTTGT | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG01258.hp2 others(43): Show |
a0001a0002a0008 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0001a0001c0004t0004a0001c0005t0001others(3): Show | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 others(42): Show |
46 | 316 | 0.1456 | -5 | c.-42 others(16): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 4232 | chr17 | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9605694 | GAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(155): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0004a0002c0001others(11): Show | a0001c0002t0001a0001c0004t0004a0002c0001t0001others(13): Show | a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0024 others(154): Show |
158 | 316 | 0.5000 | -5 | c.754 others(22): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9615795 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0004t0004a0001c0005t0001others(2): Show | a0001c0002t0001g0063 a0001c0002t0001g0070 a0001c0002t0001g0271 others(9): Show |
13 | 316 | 0.0411 | -5 | c.102 others(24): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9629491 | CTTTCT | C | intron_variant | MODIFIER | HG02015.hp2 HG02080.hp2 HG02135.hp2 others(11): Show |
a0001a0002a0006 | a0001c0002a0002c0001a0006c0018 | a0001c0002t0001a0002c0001t0001a0006c0018t0001 | a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0026 others(11): Show |
14 | 316 | 0.0443 | -5 | c.117 others(22): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9634543 | CCATTG | C | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG02145.hp2 others(18): Show |
a0001a0002a0006 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0001a0001c0004t0004a0001c0005t0001others(4): Show | a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0026 others(17): Show |
21 | 316 | 0.0665 | -5 | c.132 others(22): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50250235 | AAAGAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(72): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0019 others(64): Show |
75 | 402 | 0.1866 | -5 | c.996 others(20): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 5/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50268232 | TTGGGA | T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0187 a0001c0001t0001g0188 others(3): Show |
7 | 402 | 0.0174 | -5 | c.-18 others(16): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 1738 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96490711 | TAAATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(55): Show |
a0002a0003a0004others(12): Show | a0002c0003a0002c0032a0003c0002others(19): Show | a0002c0003t0001a0002c0032t0001a0003c0002t0001others(20): Show | a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0032t0001g0222 others(55): Show |
58 | 268 | 0.2164 | -5 | c.317 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96499947 | AAAAAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(54): Show |
a0001a0002a0003others(13): Show | a0001c0086a0002c0003a0002c0007others(17): Show | a0001c0086t0001a0002c0003t0001a0002c0003t0002others(18): Show | a0001c0086t0001g0148 a0002c0003t0001g0121 a0002c0003t0001g0122 others(54): Show |
57 | 268 | 0.2127 | -5 | c.318 others(20): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 1/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96536987 | ACAATT | A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(55): Show |
a0001a0002a0004others(13): Show | a0001c0086a0002c0003a0002c0007others(18): Show | a0001c0086t0001a0002c0003t0001a0002c0003t0002others(19): Show | a0001c0086t0001g0148 a0002c0003t0001g0121 a0002c0003t0001g0122 others(55): Show |
58 | 268 | 0.2164 | -5 | c.179 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 12/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96621875 | GTTTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(65): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0012a0001c0047others(16): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(16): Show | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 others(65): Show |
68 | 268 | 0.2537 | -5 | c.377 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 27/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96699482 | TTAAAA | T | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp1 HG02896.hp1 others(2): Show |
a0004 | a0004c0011a0004c0081 | a0004c0011t0001a0004c0081t0001 | a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 others(2): Show |
5 | 268 | 0.0187 | -5 | c.635 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 45/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96817280 | AAAGTT | A | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show |
a0005a0055a0057 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 others(17): Show |
20 | 268 | 0.0746 | -5 | c.895 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 64/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96825422 | GTTATA | G | intron_variant | MODIFIER | HG01975.hp1 homoSapiens_chm13v2.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0225 a0003c0002t0001g0226 |
2 | 268 | 0.0075 | -5 | c.909 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96825518 | CATATT | C | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show |
a0005a0055a0057 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 others(17): Show |
20 | 268 | 0.0746 | -5 | c.909 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96825614 | GATATA | G | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01358.hp1 others(17): Show |
a0005a0055a0057 | a0005c0004a0005c0015a0005c0020others(3): Show | a0005c0004t0001a0005c0015t0001a0005c0020t0001others(3): Show | a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 others(17): Show |
20 | 268 | 0.0746 | -5 | c.909 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827972 | ATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(66): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0012a0001c0047others(21): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(21): Show | a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0035 others(66): Show |
69 | 268 | 0.2575 | -5 | c.909 others(24): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96860134 | ATTTTT | A | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02145.hp1 others(2): Show |
a0009a0015a0037others(1): Show | a0009c0019a0009c0028a0015c0030others(2): Show | a0009c0019t0001a0009c0028t0001a0015c0030t0003others(2): Show | a0009c0019t0001g0229 a0009c0028t0001g0182 a0015c0030t0003g0192 others(2): Show |
5 | 268 | 0.0187 | -5 | c.917 others(22): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 66/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |