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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3073): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0250 | 1 | 8 | 0.1250 | 3080 | c.400 others(3099): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3073): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0191 | 1 | 8 | 0.1250 | 3080 | c.400 others(3099): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACACTT others(3073): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0043 | 1 | 242 | 0.0041 | 3080 | c.129 others(3099): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3073): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3080 | c.*24 others(3091): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3073): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 62 | 0.0161 | 3080 | c.*24 others(3091): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3073): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3080 | c.*24 others(3091): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146989882 | G | GTGAAACT others(3073): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0015 | a0015c0034 | a0015c0034t0005 | a0015c0034t0005g0022 | 1 | 97 | 0.0103 | 3080 | c.357 others(3097): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841603 | C | CGACCACG others(3073): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 151 | 0.0066 | 3080 | c.361 others(3099): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PHC3_chr3_170082584_170186733 | 170165815 | C | CAAAGAAG others(3073): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 327 | 0.0031 | 3080 | c.414 others(3097): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | |||||||
PPP4R1_chr18_9541794_9619559 | 9603210 | A | AATGTCAG others(3073): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 315 | 0.0032 | 3080 | c.53- others(3095): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 2/19 | chr18 | TogoVar | |||||||
PPP4R1_chr18_9541794_9619559 | 9603210 | A | AATGTCAG others(3073): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 315 | 0.0032 | 3080 | c.53- others(3095): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 2/19 | chr18 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222715 | T | TGCGTCTC others(3073): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0011 | a0011c0020 | a0011c0020t0001 | a0011c0020t0001g0110 | 1 | 28 | 0.0357 | 3080 | c.719 others(3099): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3073): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0250 | 1 | 19 | 0.0526 | 3080 | c.389 others(3099): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3074): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 |
a0001a0002 | a0001c0033a0002c0001 | a0001c0033t0001a0002c0001t0001 | a0001c0033t0001g0089 a0002c0001t0001g0062 |
2 | 3 | 0.6667 | 3081 | c.126 others(3098): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3074): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 8 | 0.1250 | 3081 | c.400 others(3100): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3074): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 8 | 0.1250 | 3081 | c.400 others(3100): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3074): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3081 | c.*24 others(3092): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3074): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3081 | c.*24 others(3092): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3074): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 62 | 0.0161 | 3081 | c.*24 others(3092): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3074): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 63 | 0.0317 | 3081 | c.*24 others(3092): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3074): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3081 | c.*24 others(3092): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
PPP4R1_chr18_9541794_9619559 | 9603210 | A | AATGTCAG others(3074): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 315 | 0.0032 | 3081 | c.53- others(3096): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 2/19 | chr18 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3074): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 7 | 0.1429 | 3081 | c.*27 others(3092): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3074): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 7 | 0.1429 | 3081 | c.*27 others(3092): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC5A8_chr12_101150493_101215238 | 101154283 | G | GAAAAAAA others(3074): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 NA20752.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0169 a0002c0004t0002g0200 |
2 | 106 | 0.0189 | 3081 | c.*29 others(3092): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 1209 | chr12 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGAGAAGG others(3074): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 295 | 0.0034 | 3081 | c.115 others(3098): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3075): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0231 | 1 | 8 | 0.1250 | 3082 | c.400 others(3101): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3075): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 62 | 0.0161 | 3082 | c.*24 others(3093): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3075): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 62 | 0.0161 | 3082 | c.*24 others(3093): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3075): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3082 | c.*24 others(3093): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3075): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 7 | 0.1429 | 3082 | c.*27 others(3093): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714198 | T | TGTGTGTT others(3076): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 342 | 0.0029 | 3083 | c.127 others(3100): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3076): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0037 | a0001c0037t0015 | a0001c0037t0015g0113 | 1 | 8 | 0.1250 | 3083 | c.400 others(3102): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(3076): Show |
splice_region_variant others(1): Show |
LOW | HG01261.hp1 | a0005 | a0005c0012 | a0005c0012t0009 | a0005c0012t0009g0233 | 1 | 287 | 0.0035 | 3083 | c.157 others(3096): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3076): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0260 | 1 | 34 | 0.0294 | 3083 | c.299 others(3098): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585572 | A | ACTCCACA others(3077): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 235 | 0.0043 | 3084 | c.294 others(3101): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(3077): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0287 a0001c0002t0001g0288 |
2 | 145 | 0.0138 | 3084 | c.*17 others(3095): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949681 | T | TGATCTTT others(3077): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0043 | 1 | 171 | 0.0058 | 3084 | c.280 others(3105): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(3077): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02965.hp1 |
a0006a0014 | a0006c0008a0014c0019 | a0006c0008t0001a0014c0019t0001 | a0006c0008t0001g0001 a0014c0019t0001g0007 |
2 | 173 | 0.0116 | 3084 | c.*22 others(3095): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3077): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 4 | 0.2500 | 3084 | c.115 others(3103): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3077): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0201 | 1 | 8 | 0.1250 | 3084 | c.400 others(3103): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3077): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3084 | c.*24 others(3095): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3077): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 62 | 0.0161 | 3084 | c.*24 others(3095): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3077): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3084 | c.*24 others(3095): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811268 | C | CCCTTCCT others(3077): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0132 | 1 | 170 | 0.0059 | 3084 | c.773 others(3099): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3077): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 7 | 0.1429 | 3084 | c.*27 others(3095): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3077): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0272 | 1 | 19 | 0.0526 | 3084 | c.389 others(3103): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3078): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 | 1 | 174 | 0.0057 | 3085 | c.294 others(3102): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3078): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0077 a0002c0003t0004g0078 |
2 | 175 | 0.0114 | 3085 | c.294 others(3102): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3078): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0097 a0003c0007t0001g0098 |
2 | 175 | 0.0114 | 3085 | c.294 others(3102): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar |