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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0002t0002g0187 a0001c0002t0002g0191 a0001c0002t0002g0192 others(1): Show |
4 | 176 | 0.0227 | 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 | 89 | 0.0112 | 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 | 85 | 0.0235 | 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 | 243 | 0.0123 | 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 | a0002c0005t0004g0299 | 1 | 173 | 0.0058 | 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 | a0001c0001t0019g0251 | 1 | 173 | 0.0058 | 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 | a0001c0001t0003g0288 | 1 | 173 | 0.0058 | 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 | a0001c0001t0004g0224 | 1 | 241 | 0.0041 | 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 | a0002c0005t0004g0259 | 1 | 173 | 0.0058 | 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 | a0001c0005t0015g0219 | 1 | 278 | 0.0036 | 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 | a0001c0002t0001g0101 | 1 | 335 | 0.0030 | 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 | 241 | 0.0041 | 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 | 167 | 0.0060 | 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 | 167 | 0.0060 | 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 | 168 | 0.0119 | 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 | a0001c0001t0001g0189 | 1 | 392 | 0.0026 | 5580 | c.-47 others(5597): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911386 | C | CAACCCTG others(5573): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03139.hp1 HG03209.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0183 others(2): Show |
7 | 398 | 0.0176 | 5580 | c.-47 others(5597): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911386 | C | CAACCCTG others(5573): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 392 | 0.0026 | 5580 | c.-47 others(5597): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911386 | C | CAACCCTG others(5573): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 392 | 0.0026 | 5580 | c.-47 others(5597): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 167 | 0.0060 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02647.hp2 HG02965.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 |
3 | 169 | 0.0178 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02451.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 others(4): Show |
7 | 173 | 0.0405 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0173 | 1 | 167 | 0.0060 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0079 |
2 | 168 | 0.0119 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 167 | 0.0060 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00609.hp1 others(78): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0018a0001c0019others(7): Show | a0001c0001t0001a0001c0018t0001a0001c0019t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(78): Show |
81 | 247 | 0.3279 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 167 | 0.0060 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 167 | 0.0060 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01346.hp1 others(3): Show |
a0004a0007 | a0004c0005a0007c0012 | a0004c0005t0001a0007c0012t0001 | a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 others(3): Show |
6 | 172 | 0.0349 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0080 |
2 | 168 | 0.0119 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5573): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0025 | a0004c0025t0001 | a0004c0025t0001g0161 | 1 | 167 | 0.0060 | 5580 | c.723 others(5597): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5574): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0029 |
2 | 168 | 0.0119 | 5581 | c.723 others(5598): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5574): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 167 | 0.0060 | 5581 | c.723 others(5598): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5574): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02602.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0128 a0004c0005t0001g0171 |
2 | 168 | 0.0119 | 5581 | c.723 others(5598): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5575): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 167 | 0.0060 | 5582 | c.723 others(5599): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72805248 | A | ATGAGACG others(5576): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 167 | 0.0060 | 5583 | c.723 others(5600): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5578): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0009 | 1 | 173 | 0.0058 | 5585 | c.225 others(5602): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111807 | A | AGGCACCT others(5579): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 214 | 0.0047 | 5586 | c.401 others(5603): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5579): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0276 | 1 | 212 | 0.0047 | 5586 | c.225 others(5603): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5579): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0291 | 1 | 212 | 0.0047 | 5586 | c.225 others(5603): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5579): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0233 | 1 | 173 | 0.0058 | 5586 | c.225 others(5603): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5581): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 a0001c0001t0003g0052 a0001c0001t0003g0053 others(2): Show |
6 | 402 | 0.0149 | 5588 | c.-47 others(5605): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5582): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 397 | 0.0025 | 5589 | c.-47 others(5606): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5585): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0087 | 1 | 55 | 0.0182 | 5592 | c.891 others(5607): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5586): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 55 | 0.0182 | 5593 | c.891 others(5608): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5586): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 |
3 | 399 | 0.0075 | 5593 | c.-47 others(5610): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5587): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 397 | 0.0025 | 5594 | c.-47 others(5611): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5587): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 397 | 0.0025 | 5594 | c.-47 others(5611): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5587): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0207 |
2 | 398 | 0.0050 | 5594 | c.-47 others(5611): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(5587): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 112 | 0.0089 | 5594 | c.719 others(5613): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |