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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP61_chr20_20047532_20365698 | 20357749 | C | CACTGAGG others(370): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0224 | 1 | 236 | 0.0042 | 377 | c.351 others(396): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1328767 | C | CTCCATCC others(370): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 370 | 0.0027 | 377 | c.108 others(396): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1328782 | C | CCTCTACA others(370): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 370 | 0.0027 | 377 | c.108 others(396): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(370): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0216 | 1 | 396 | 0.0025 | 377 | c.513 others(394): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
CUX2_chr12_111029165_111355554 | 111326378 | T | TGTGGGGG others(370): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG03098.hp1 |
a0001 | a0001c0009a0001c0019 | a0001c0009t0001a0001c0019t0004 | a0001c0009t0001g0049 a0001c0009t0001g0050 a0001c0019t0004g0029 |
3 | 100 | 0.0300 | 377 | c.292 others(396): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933885 | A | AGGAATGA others(370): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0001 | a0002c0001t0018 | a0002c0001t0018g0133 | 1 | 386 | 0.0026 | 377 | c.198 others(392): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238178 | G | GAGGGAGG others(370): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 216 | 0.0046 | 377 | c.923 others(396): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DDX53_chrX_22994960_23008589 | 23002319 | T | TGAGAGAG others(370): Show |
3_prime_UTR_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0000 | 1 | 358 | 0.0028 | 377 | c.*56 others(386): Show |
DDX53 | ENSG00000184735.7 | transcript | ENST00000327968.7 | protein_coding | 1/1 | 568 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIDO1_chr20_62872743_62931505 | 62875296 | G | GCACCGGC others(370): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0245 | 1 | 320 | 0.0031 | 377 | c.*39 others(388): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2446 | chr20 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157411220 | T | TTCCCTGC others(370): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 372 | 0.0027 | 377 | c.898 others(394): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716289 | T | TGGGGGGA others(370): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0066 | 1 | 170 | 0.0059 | 377 | c.86- others(390): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0140 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0120 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0216 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0146 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70407972 | C | CGGGCGGG others(370): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70408035 | A | ACCCCCCC others(370): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0138 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIF4EBP2_chr10_70399145_70433618 | 70408035 | A | ACCCCCCC others(370): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 422 | 0.0024 | 377 | c.145 others(394): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3221594 | T | TCGGGAAC others(370): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 250 | 0.0040 | 377 | c.417 others(394): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATACATA others(370): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0046 | 1 | 369 | 0.0027 | 377 | c.-49 others(388): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATACATA others(370): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18966.hp2 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0003a0001c0017t0003 | a0001c0002t0003g0025 a0001c0017t0003g0023 |
2 | 369 | 0.0054 | 377 | c.-49 others(388): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 267540 | C | CATGCATG others(370): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01361.hp2 HG02015.hp2 others(13): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0013 | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(1): Show | a0001c0001t0001g0060 a0001c0001t0003g0036 a0002c0003t0001g0017 others(12): Show |
16 | 408 | 0.0392 | 377 | c.*25 others(388): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1445 | chr16 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 267540 | C | CATGCATG others(370): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 a0001c0001t0004g0245 |
2 | 408 | 0.0049 | 377 | c.*25 others(388): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1445 | chr16 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 267540 | C | CATGCATG others(370): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(29): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 others(29): Show |
32 | 408 | 0.0784 | 377 | c.*25 others(388): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1445 | chr16 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 267540 | C | CATGCATG others(370): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0363 | 1 | 408 | 0.0025 | 377 | c.*25 others(388): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1445 | chr16 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 267569 | G | GTGCACTA others(370): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 a0001c0001t0001g0246 |
2 | 408 | 0.0049 | 377 | c.*25 others(388): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1474 | chr16 | TogoVar | |||||||
FAM3B_chr21_41311801_41362727 | 41313621 | G | GATCCATT others(370): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0016 | 1 | 314 | 0.0032 | 377 | c.-32 others(388): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 3179 | chr21 | TogoVar | |||||||
FEM1A_chr19_4786734_4806273 | 4798488 | T | TAGTCCCA others(370): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0017 | a0005c0017t0057 | a0005c0017t0057g0000 | 1 | 430 | 0.0023 | 377 | c.*47 others(388): Show |
FEM1A | ENSG00000141965.5 | transcript | ENST00000269856.5 | protein_coding | 1/1 | 4721 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FHIT_chr3_59742277_61256452 | 60861197 | T | TCTGTTCT others(370): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0003 | 1 | 46 | 0.0217 | 377 | c.-11 others(398): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FLACC1_chr2_201283271_201362345 | 201284695 | G | GGGGAGAG others(370): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026 | 1 | 370 | 0.0027 | 377 | c.*39 others(388): Show |
FLACC1 | ENSG00000155749.13 | transcript | ENST00000392257.8 | protein_coding | 3575 | chr2 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998891 | T | TATTTATA others(370): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0016 | a0016c0044 | a0016c0044t0004 | a0016c0044t0004g0224 | 1 | 292 | 0.0034 | 377 | c.*51 others(388): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4382 | chr13 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217524926 | G | GGGAGAGG others(370): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0049 |
2 | 188 | 0.0106 | 377 | c.109 others(398): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GRIN3A_chr9_101564352_101743647 | 101659358 | T | TGTATCTA others(370): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0015 | a0001c0015t0036 | a0001c0015t0036g0217 | 1 | 324 | 0.0031 | 377 | c.235 others(398): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 3/8 | chr9 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653220 | T | TCCTCCCC others(370): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0044 | 1 | 290 | 0.0035 | 377 | c.427 others(394): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HCFC2_chr12_104059531_104111524 | 104093799 | G | GCTGTTAC others(370): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 382 | 0.0026 | 377 | c.146 others(394): Show |
HCFC2 | ENSG00000111727.12 | transcript | ENST00000229330.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112339310 | C | CAAGAAAA others(370): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 270 | 0.0037 | 377 | c.178 others(396): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTATT others(370): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0008 | a0001c0008t0043 | a0001c0008t0043g0183 | 1 | 394 | 0.0025 | 377 | c.41- others(392): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322896 | C | CGGAATAT others(370): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0123 | 1 | 323 | 0.0031 | 377 | c.-21 others(388): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2073 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATG others(370): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0017 | 1 | 323 | 0.0031 | 377 | c.-21 others(388): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183149881 | C | CCTCACAC others(370): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0240 | 1 | 308 | 0.0033 | 377 | c.*70 others(388): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4290 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(370): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 NA18998.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0002a0002c0003t0006 | a0001c0001t0010g0146 a0002c0003t0002g0088 a0002c0003t0006g0091 |
3 | 296 | 0.0101 | 377 | c.368 others(394): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909163 | T | TTTATTAA others(370): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0145 | 1 | 316 | 0.0032 | 377 | c.622 others(392): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909165 | A | ATATATAA others(370): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 316 | 0.0032 | 377 | c.622 others(392): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909259 | T | TTATATAA others(370): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0150 | 1 | 316 | 0.0032 | 377 | c.622 others(392): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRC23_chr12_6899822_6919229 | 6909274 | T | TATATATA others(370): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18944.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0112 |
3 | 316 | 0.0095 | 377 | c.622 others(392): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(370): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03041.hp1 HG03130.hp2 others(1): Show |
a0010 | a0010c0014a0010c0048 | a0010c0014t0001a0010c0014t0009a0010c0014t0010others(1): Show | a0010c0014t0001g0190 a0010c0014t0009g0192 a0010c0014t0010g0225 others(1): Show |
4 | 246 | 0.0163 | 377 | c.171 others(394): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |