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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS4_chr19_8204370_8267421 | 8245122 | A | AACAAAAC others(18): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 a0001c0001t0002g0217 |
2 | 151 | 0.0132 | 25 | c.-1- others(40): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245126 | A | AACAAAAA others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG02015.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0408 a0001c0001t0002g0003 a0001c0001t0002g0130 others(28): Show |
31 | 407 | 0.0762 | 25 | c.-1- others(40): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245126 | A | AACAAAAA others(18): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 377 | 0.0027 | 25 | c.-1- others(40): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 55 | 0.0182 | 25 | c.*47 others(36): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0007 | a0003c0007t0010 | a0003c0007t0010g0006 | 1 | 108 | 0.0093 | 25 | c.*51 others(36): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75388599 | C | CATATATA others(18): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 29 | 0.0345 | 25 | c.128 others(42): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55854534 | T | TCTGTTTT others(18): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02647.hp1 HG03041.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0005others(3): Show | a0001c0001t0003a0002c0003t0001a0002c0005t0001others(3): Show | a0001c0001t0003g0060 a0002c0003t0001g0198 a0002c0003t0001g0219 others(6): Show |
9 | 445 | 0.0202 | 25 | c.112 others(44): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55866658 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0011 | a0003c0011t0004 | a0003c0011t0004g0081 | 1 | 284 | 0.0035 | 25 | c.552 others(40): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58751867 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0201 a0001c0005t0001g0056 a0001c0005t0001g0057 others(2): Show |
5 | 197 | 0.0254 | 25 | c.233 others(44): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 16/16 | chr3 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121966141 | T | TCCCTTCC others(18): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0064 | 1 | 352 | 0.0028 | 25 | c.249 others(42): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32610798 | A | ATAATAAA others(18): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0104 | 1 | 414 | 0.0024 | 25 | c.140 others(40): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03130.hp2 HG03209.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0029 | a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0003g0010 others(4): Show |
13 | 357 | 0.0364 | 25 | c.139 others(40): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 20 | 0.0500 | 25 | c.242 others(42): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80371692 | G | GGACATAA others(18): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 96 | 0.0104 | 25 | c.242 others(42): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799812 | T | TATATATT others(18): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 42 | 0.0238 | 25 | c.334 others(44): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799812 | T | TATATATT others(18): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03516.hp1 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0001a0002c0007t0001 | a0001c0004t0001g0050 a0002c0007t0001g0047 |
2 | 43 | 0.0465 | 25 | c.334 others(44): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80880727 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 90 | 0.0111 | 25 | c.476 others(44): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113320519 | T | TTAATGAA others(18): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0087 | 1 | 346 | 0.0029 | 25 | c.451 others(44): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP44_chr3_113281930_113446493 | 113320538 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02896.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0081 | a0001c0001t0029g0280 a0001c0001t0081g0339 |
2 | 345 | 0.0058 | 25 | c.451 others(44): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159878753 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 a0001c0001t0001g0244 |
2 | 34 | 0.0588 | 25 | c.104 others(44): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132820826 | C | CTGTGTGT others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0052 | a0052c0037 | a0052c0037t0001 | a0052c0037t0001g0230 | 1 | 243 | 0.0041 | 25 | c.711 others(44): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132821265 | A | ATGTGTGC others(18): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0054 | a0054c0105 | a0054c0105t0001 | a0054c0105t0001g0239 | 1 | 244 | 0.0041 | 25 | c.711 others(44): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35960380 | G | GAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01934.hp1 HG04204.hp1 NA19082.hp1 |
a0002a0003a0014 | a0002c0002a0003c0014a0014c0011 | a0002c0002t0001a0003c0014t0001a0014c0011t0001 | a0002c0002t0001g0146 a0003c0014t0001g0082 a0014c0011t0001g0155 |
3 | 89 | 0.0337 | 25 | c.141 others(44): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631028 | A | AAGAAAGA others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0019 | 1 | 169 | 0.0059 | 25 | c.117 others(44): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAAGAAAG others(18): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0251 | 1 | 78 | 0.0128 | 25 | c.117 others(44): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631067 | A | AAGAAGAA others(18): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0097 | 1 | 308 | 0.0032 | 25 | c.117 others(44): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 51 | 0.0196 | 25 | c.131 others(44): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01258.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0084 others(1): Show |
4 | 54 | 0.0741 | 25 | c.131 others(44): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp2 HG01981.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0090 others(6): Show |
10 | 60 | 0.1667 | 25 | c.131 others(44): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18939.hp1 NA18943.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0021 a0001c0001t0001g0087 a0002c0002t0001g0004 others(3): Show |
8 | 58 | 0.1379 | 25 | c.131 others(44): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0185 | 1 | 51 | 0.0196 | 25 | c.131 others(44): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0184 | 1 | 51 | 0.0196 | 25 | c.131 others(44): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96827707 | T | TATATAAT others(18): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0092 | 1 | 166 | 0.0060 | 25 | c.909 others(44): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827707 | T | TATATAAT others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(74): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0012a0001c0047others(29): Show | a0001c0001t0001a0001c0012t0001a0001c0047t0001others(29): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 others(74): Show |
77 | 242 | 0.3182 | 25 | c.909 others(44): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827730 | T | TTAATATA others(18): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0082 | a0004c0082t0001 | a0004c0082t0001g0167 | 1 | 253 | 0.0040 | 25 | c.909 others(44): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296320 | T | TTCCTTCC others(18): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0209 | 1 | 182 | 0.0055 | 25 | c.321 others(44): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296320 | T | TTCCTTCC others(18): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001a0009a0018others(2): Show | a0001c0026a0001c0039a0009c0014others(3): Show | a0001c0026t0001a0001c0039t0003a0009c0014t0006others(4): Show | a0001c0026t0001g0141 a0001c0039t0003g0125 a0009c0014t0006g0007 others(4): Show |
7 | 188 | 0.0372 | 25 | c.321 others(44): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296330 | T | TCCTTCCT others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(74): Show |
a0001a0002a0006others(7): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0079 others(74): Show |
77 | 217 | 0.3548 | 25 | c.321 others(44): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219009619 | A | AATGGGAT others(18): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0029 | a0029c0040 | a0029c0040t0001 | a0029c0040t0001g0165 | 1 | 262 | 0.0038 | 25 | c.445 others(42): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 27/34 | chr2 | TogoVar | |||||||
CFAP65_chr2_218997846_219046516 | 219014788 | G | GCACCTGA others(18): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02559.hp1 others(11): Show |
a0004a0005a0007others(3): Show | a0004c0004a0005c0007a0007c0006others(4): Show | a0004c0004t0003a0005c0007t0003a0007c0006t0002others(5): Show | a0004c0004t0003g0190 a0005c0007t0003g0031 a0005c0007t0003g0178 others(10): Show |
14 | 317 | 0.0442 | 25 | c.360 others(42): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 21/34 | chr2 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132438541 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 217 | 0.0046 | 25 | c.195 others(44): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132559346 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 29 | 0.0345 | 25 | c.733 others(44): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69841164 | T | TTTATATA others(18): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 17 | 0.0588 | 25 | c.153 others(42): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843505 | C | CCCCTCCT others(18): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0250 | 1 | 297 | 0.0034 | 25 | c.153 others(42): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349680 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0119 |
3 | 255 | 0.0118 | 25 | c.651 others(44): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18983.hp1 NA18999.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0305 a0001c0002t0001g0031 a0001c0002t0001g0062 others(1): Show |
4 | 124 | 0.0323 | 25 | c.651 others(44): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03195.hp1 NA20805.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0288 a0001c0002t0001g0049 |
2 | 56 | 0.0357 | 25 | c.651 others(44): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349688 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 28 | 0.0357 | 25 | c.651 others(44): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349690 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 13 | 0.0769 | 25 | c.651 others(44): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349690 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0009 a0001c0002t0009g0314 |
2 | 14 | 0.1429 | 25 | c.651 others(44): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar |