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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1081): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 176 | 0.0057 | 1088 | c.376 others(1105): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGGACTT others(1081): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 176 | 0.0057 | 1088 | c.376 others(1105): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1081): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 NA18942.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0029 | a0001c0001t0014g0050 a0001c0001t0014g0051 a0001c0001t0014g0053 others(1): Show |
4 | 252 | 0.0159 | 1088 | c.-36 others(1099): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1081): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 NA18942.hp2 NA18980.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0027 a0005c0006t0001g0047 a0005c0006t0001g0115 others(1): Show |
5 | 239 | 0.0209 | 1088 | c.*87 others(1097): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(1081): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0189 | 1 | 213 | 0.0047 | 1088 | c.258 others(1105): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1081): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 5 | 0.2000 | 1088 | c.-41 others(1103): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1081): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 337 | 0.0030 | 1088 | c.-29 others(1099): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(1081): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0111 | 1 | 246 | 0.0041 | 1088 | c.129 others(1107): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(1081): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 259 | 0.0039 | 1088 | c.129 others(1107): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1081): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0023 | 1 | 32 | 0.0313 | 1088 | c.218 others(1103): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MEI1_chr22_41694503_41804454 | 41712204 | C | CAAAAAAA others(1081): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 3 | 0.3333 | 1088 | c.350 others(1105): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(1081): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0223 a0002c0002t0006g0224 |
2 | 48 | 0.0417 | 1088 | c.483 others(1103): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811357 | C | CCCTTCCT others(1081): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0112 | 1 | 17 | 0.0588 | 1088 | c.773 others(1103): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099909 | A | ACAGCAGC others(1081): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 34 | 0.0294 | 1088 | c.56- others(1105): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1081): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 110 | 0.0091 | 1088 | c.-31 others(1105): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1081): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 110 | 0.0091 | 1088 | c.-31 others(1105): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1081): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0085 | 1 | 195 | 0.0051 | 1088 | c.347 others(1103): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1081): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 195 | 0.0051 | 1088 | c.347 others(1103): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130393221 | T | TGTGTCTG others(1081): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 161 | 0.0062 | 1088 | c.*41 others(1099): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2911 | chr12 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 355823 | A | AACAGTCG others(1081): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 113 | 0.0088 | 1088 | c.-33 others(1099): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3017 | chr17 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914217 | T | TTGTATGT others(1081): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 a0001c0001t0005g0009 |
2 | 405 | 0.0049 | 1088 | c.*35 others(1099): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2532 | chr9 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1081): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02129.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0010 | a0001c0001t0005g0019 a0001c0001t0005g0073 a0001c0001t0005g0156 others(20): Show |
27 | 129 | 0.2093 | 1088 | c.749 others(1103): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1081): Show |
intron_variant | MODIFIER | NA18948.hp2 NA19081.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0027 a0001c0001t0003g0085 |
3 | 105 | 0.0286 | 1088 | c.749 others(1103): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3694741 | C | CGCAATCC others(1081): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 a0001c0001t0002g0271 |
2 | 233 | 0.0086 | 1088 | c.186 others(1107): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5369995 | A | ATATGCGT others(1081): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 437 | 0.0023 | 1088 | c.-6- others(1103): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377234 | A | ACTCTGCC others(1081): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0035 | 1 | 189 | 0.0053 | 1088 | c.*41 others(1103): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049828 | C | CACCACTC others(1082): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0021 | 1 | 24 | 0.0417 | 1089 | c.255 others(1106): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980100 | C | CTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02738.hp2 NA18983.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0006 a0001c0003t0002g0210 a0001c0003t0002g0219 |
3 | 217 | 0.0138 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980100 | C | CTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0139 a0001c0002t0002g0140 |
3 | 217 | 0.0138 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980100 | C | CTGCCCGG others(1082): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0001 | 1 | 215 | 0.0047 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980100 | C | CTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02083.hp2 HG02132.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0213 a0001c0003t0002g0137 a0001c0003t0002g0199 others(1): Show |
4 | 218 | 0.0183 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 254 | 0.0039 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03195.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0147 a0001c0002t0005g0145 a0001c0002t0005g0146 |
3 | 256 | 0.0117 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0265 | 1 | 254 | 0.0039 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0149 | 1 | 254 | 0.0039 | 1089 | c.604 others(1105): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980167 | T | TGCCCGGT others(1082): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0148 | 1 | 266 | 0.0038 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980199 | C | GTGCCCGG others(1082): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0170 | 1 | 253 | 0.0040 | 1089 | c.604 others(1105): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(1082): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0168 | 1 | 211 | 0.0047 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0006 | a0001c0002t0002g0150 a0001c0003t0006g0263 a0001c0003t0006g0264 others(1): Show |
4 | 214 | 0.0187 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(1082): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0212 | 1 | 211 | 0.0047 | 1089 | c.604 others(1104): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1082): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 3 | 0.3333 | 1089 | c.787 others(1104): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1082): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 3 | 0.3333 | 1089 | c.787 others(1104): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1082): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 151 | 0.0066 | 1089 | c.63+ others(1102): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1082): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(2): Show |
a0011a0038 | a0011c0015a0038c0055 | a0011c0015t0006a0038c0055t0009 | a0011c0015t0006g0319 a0011c0015t0006g0320 a0011c0015t0006g0321 others(2): Show |
5 | 6 | 0.8333 | 1089 | c.273 others(1104): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1082): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0116 | 1 | 2 | 0.5000 | 1089 | c.273 others(1104): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1082): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02451.hp2 others(10): Show |
a0001a0003a0016 | a0001c0054a0003c0008a0003c0020others(1): Show | a0001c0054t0001a0003c0008t0003a0003c0020t0003others(1): Show | a0001c0054t0001g0263 a0003c0008t0003g0306 a0003c0008t0003g0307 others(9): Show |
13 | 14 | 0.9286 | 1089 | c.273 others(1104): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1082): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18522.hp1 |
a0001a0008 | a0001c0003a0008c0050 | a0001c0003t0002a0008c0050t0002 | a0001c0003t0002g0057 a0008c0050t0002g0058 |
2 | 3 | 0.6667 | 1089 | c.273 others(1104): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACC others(1082): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0109 | 1 | 2 | 0.5000 | 1089 | c.273 others(1104): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1082): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0078 | 1 | 8 | 0.1250 | 1089 | c.328 others(1106): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1082): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0072 | a0001c0072t0001 | a0001c0072t0001g0062 | 1 | 8 | 0.1250 | 1089 | c.328 others(1106): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar |