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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LPA_chr6_160526482_160669275 | 160612509 | A | ATGACAGG others(5535): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03239.hp2 |
a0012a0026 | a0012c0021a0026c0045 | a0012c0021t0003a0026c0045t0003 | a0012c0021t0003g0139 a0026c0045t0003g0131 |
2 | 148 | 0.0135 | 5542 | c.244 others(5559): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 15/38 | chr6 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(5536): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0191 | 1 | 276 | 0.0036 | 5543 | c.*52 others(5554): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315147 | G | GACCTGTA others(5536): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 133 | 0.0075 | 5543 | c.351 others(5560): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160612509 | A | ATGACAGG others(5537): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0016 | 1 | 148 | 0.0068 | 5544 | c.244 others(5561): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 15/38 | chr6 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160612509 | A | ATGACAGG others(5537): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0020 | a0002c0020t0002 | a0002c0020t0002g0015 | 1 | 148 | 0.0068 | 5544 | c.244 others(5561): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 15/38 | chr6 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160612509 | A | ATGACAGG others(5537): Show |
intron_variant | MODIFIER | NA18970.hp2 NA20752.hp2 NA20805.hp1 |
a0007a0031a0034 | a0007c0012a0031c0017a0034c0041 | a0007c0012t0001a0031c0017t0001a0034c0041t0001 | a0007c0012t0001g0117 a0031c0017t0001g0116 a0034c0041t0001g0120 |
3 | 148 | 0.0203 | 5544 | c.244 others(5561): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 15/38 | chr6 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1333260 | A | ATTTTTTT others(5538): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 115 | 0.0087 | 5545 | c.-37 others(5556): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 3524 | chrX | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(5539): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 404 | 0.0025 | 5546 | c.340 others(5563): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(5541): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0173 | 1 | 373 | 0.0027 | 5548 | c.115 others(5565): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5543): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0098 | 1 | 104 | 0.0096 | 5550 | c.477 others(5571): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5543): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0004 | 1 | 104 | 0.0096 | 5550 | c.477 others(5571): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EIF2AK4_chr15_39929115_40040591 | 39949772 | T | TCAAAGAT others(5543): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 368 | 0.0027 | 5550 | c.513 others(5565): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 4/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776877 | T | TCCTCCTC others(5543): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 160 | 0.0063 | 5550 | c.*16 others(5571): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24397595 | A | ACTGGGAG others(5544): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0239 | 1 | 240 | 0.0042 | 5551 | c.553 others(5570): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5545): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 370 | 0.0027 | 5552 | c.891 others(5567): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5546): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0016 | a0003c0016t0002 | a0003c0016t0002g0040 | 1 | 50 | 0.0200 | 5553 | c.287 others(5572): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
ANTXRL_chr10_46281997_46335129 | 46283271 | A | AGCCTGGG others(5547): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0308 | 1 | 369 | 0.0027 | 5554 | c.-39 others(5565): Show |
ANTXRL | ENSG00000274209.6 | transcript | ENST00000620264.5 | protein_coding | 3725 | chr10 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160620994 | A | ATTGATCA others(5548): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0047 | a0001c0047t0002 | a0001c0047t0002g0031 | 1 | 148 | 0.0068 | 5555 | c.191 others(5574): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 12/38 | chr6 | TogoVar | |||||||
SPDYE3_chr7_100302702_100327196 | 100313887 | A | AAAAAAAA others(5549): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0119 | 1 | 344 | 0.0029 | 5556 | c.982 others(5571): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5551): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 1 | 251 | 0.0040 | 5558 | c.-45 others(5567): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5555): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0274 | 1 | 318 | 0.0031 | 5562 | c.225 others(5579): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5555): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0301 | 1 | 318 | 0.0031 | 5562 | c.225 others(5579): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5555): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0284 | 1 | 318 | 0.0031 | 5562 | c.225 others(5579): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947807 | G | GTGGTGAT others(5555): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0003 | a0003c0021 | a0003c0021t0003 | a0003c0021t0003g0003 | 1 | 136 | 0.0074 | 5562 | c.47- others(5579): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195777898 | A | ACCCATAC others(5556): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0079 | a0079c0147 | a0079c0147t0004 | a0079c0147t0004g0231 | 1 | 249 | 0.0040 | 5563 | c.129 others(5582): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5557): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0046 | 1 | 266 | 0.0038 | 5564 | c.-34 others(5579): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5557): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02896.hp2 HG02965.hp2 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0009 | 3 | 266 | 0.0113 | 5564 | c.-34 others(5579): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5559): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG03098.hp2 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0012 a0003c0003t0005g0047 |
3 | 266 | 0.0113 | 5566 | c.-34 others(5581): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTCATTC others(5561): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 300 | 0.0033 | 5568 | c.654 others(5587): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(5562): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0025 | 1 | 332 | 0.0030 | 5569 | c.179 others(5584): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241987 | C | AGGGGCCC others(5563): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 183 | 0.0055 | 5570 | c.107 others(5589): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5563): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0078 | 1 | 266 | 0.0038 | 5570 | c.-34 others(5585): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948419 | A | ATGGTGGT others(5566): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0039 | a0004c0039t0003 | a0004c0039t0003g0006 | 1 | 136 | 0.0074 | 5573 | c.47- others(5590): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5567): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0191 | 1 | 344 | 0.0029 | 5574 | c.127 others(5591): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5567): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02145.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0189 a0001c0002t0002g0193 a0001c0002t0002g0194 others(1): Show |
4 | 344 | 0.0116 | 5574 | c.127 others(5591): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251268 | C | CCACACCC others(5567): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0107 | 1 | 116 | 0.0086 | 5574 | c.207 others(5593): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 315147 | G | GACCTGTA others(5567): Show |
intron_variant | MODIFIER | NA19004.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 a0001c0001t0012g0006 |
2 | 133 | 0.0150 | 5574 | c.351 others(5591): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11917474 | A | ACTTTTAT others(5567): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 |
3 | 334 | 0.0090 | 5574 | c.*38 others(5585): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 2547 | chr10 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5568): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0297 | 1 | 344 | 0.0029 | 5575 | c.127 others(5592): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5568): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0252 | 1 | 344 | 0.0029 | 5575 | c.127 others(5592): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5568): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 344 | 0.0029 | 5575 | c.127 others(5592): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5569): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 344 | 0.0029 | 5576 | c.127 others(5593): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5569): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0257 | 1 | 344 | 0.0029 | 5576 | c.127 others(5593): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364486 | C | CTTACACC others(5569): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0224 | 1 | 290 | 0.0035 | 5576 | c.129 others(5593): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917315 | G | GGAGGCTG others(5569): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 344 | 0.0029 | 5576 | c.218 others(5591): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UPF2_chr10_11915022_12047809 | 11917474 | A | ACTTTTAT others(5570): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 334 | 0.0030 | 5577 | c.*38 others(5588): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 2547 | chr10 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5572): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 286 | 0.0035 | 5579 | c.723 others(5596): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5572): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 286 | 0.0035 | 5579 | c.723 others(5596): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5572): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0137 |
2 | 286 | 0.0070 | 5579 | c.723 others(5596): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248911386 | C | CAACCCTG others(5573): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 422 | 0.0024 | 5580 | c.-47 others(5597): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |