regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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(3098): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 264 | 0.0038 | 3105 | c.400 others(3124): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(3098): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 279 | 0.0036 | 3105 | c.215 others(3122): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 303886 | A | ATGGGGAG others(3098): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 133 | 0.0075 | 3105 | c.351 others(3124): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 303886 | A | ATGGGGAG others(3098): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 133 | 0.0075 | 3105 | c.351 others(3124): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3098): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0027 | 1 | 203 | 0.0049 | 3105 | c.-12 others(3124): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(3098): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273 | 1 | 376 | 0.0027 | 3105 | c.101 others(3122): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3098): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0012 | 1 | 272 | 0.0037 | 3105 | c.389 others(3124): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 420865 | C | CACACATA others(3099): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 432 | 0.0023 | 3106 | c.413 others(3123): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LRCH1_chr13_46548170_46749898 | 46584008 | A | ATAGAATA others(3099): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0083 | 1 | 274 | 0.0037 | 3106 | c.307 others(3125): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(3099): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 178 | 0.0056 | 3106 | c.773 others(3121): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3099): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0000 | a0000c0014 | a0000c0014t0001 | a0000c0014t0001g0067 | 1 | 203 | 0.0049 | 3106 | c.-12 others(3125): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(3099): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02683.hp1 |
a0001a0016 | a0001c0004a0016c0029 | a0001c0004t0001a0016c0029t0001 | a0001c0004t0001g0107a0016c0029t0001g0099 | 2 | 130 | 0.0154 | 3106 | c.261 others(3125): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3099): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0260 | 1 | 350 | 0.0029 | 3106 | c.192 others(3121): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3100): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0322 | 1 | 352 | 0.0028 | 3107 | c.839 others(3124): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3100): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 274 | 0.0037 | 3107 | c.307 others(3126): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PTGR1_chr9_111557567_111604647 | 111578316 | T | TTATTTCT others(3100): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 408 | 0.0025 | 3107 | c.651 others(3122): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3100): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0197 | 1 | 214 | 0.0047 | 3107 | c.206 others(3126): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3100): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0193 | 1 | 350 | 0.0029 | 3107 | c.192 others(3122): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AFAP1_chr4_7753714_7944861 | 7835801 | C | CAAGGTTA others(3101): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0273 | 1 | 318 | 0.0031 | 3108 | c.726 others(3125): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5932365 | A | AAAGGAAA others(3101): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 162 | 0.0062 | 3108 | c.23- others(3123): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5932365 | A | AAAGGAAA others(3101): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0047 | 1 | 162 | 0.0062 | 3108 | c.23- others(3123): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3101): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0325 | 1 | 352 | 0.0028 | 3108 | c.839 others(3125): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3101): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0341 | 1 | 352 | 0.0028 | 3108 | c.839 others(3125): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3101): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0264 | 1 | 264 | 0.0038 | 3108 | c.400 others(3127): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3101): Show |
intron_variant | MODIFIER | HG01167.hp2 NA18949.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0260a0001c0006t0001g0246a0001c0006t0001g0255 | 3 | 289 | 0.0104 | 3108 | c.269 others(3127): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3101): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0217 | 1 | 289 | 0.0035 | 3108 | c.269 others(3127): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(3102): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 298 | 0.0034 | 3109 | c.126 others(3126): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRCH1_chr13_46548170_46749898 | 46584008 | A | ATAGAATA others(3102): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 274 | 0.0037 | 3109 | c.307 others(3128): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3102): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 279 | 0.0036 | 3109 | c.*27 others(3120): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3102): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 279 | 0.0036 | 3109 | c.*27 others(3120): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162226 | A | AAGGTGGA others(3102): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0021 | 1 | 203 | 0.0049 | 3109 | c.-12 others(3128): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
DENR_chr12_122747824_122776064 | 122772902 | T | TGTTTGTT others(3103): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 364 | 0.0028 | 3110 | c.*38 others(3121): Show |
DENR | ENSG00000139726.11 | transcript | ENST00000280557.11 | protein_coding | 1839 | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3103): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18999.hp1 NA19070.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0016a0001c0003t0002g0023a0001c0003t0002g0031others(2): Show | 5 | 284 | 0.0176 | 3110 | c.101 others(3129): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3103): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 284 | 0.0035 | 3110 | c.101 others(3129): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3103): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0064 | 1 | 284 | 0.0035 | 3110 | c.101 others(3129): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3103): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 279 | 0.0036 | 3110 | c.*27 others(3121): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3104): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 342 | 0.0029 | 3111 | c.573 others(3128): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3104): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0068 | 1 | 284 | 0.0035 | 3111 | c.101 others(3130): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3104): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0067 | 1 | 284 | 0.0035 | 3111 | c.101 others(3130): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3104): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0071 | 1 | 284 | 0.0035 | 3111 | c.101 others(3130): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3104): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0070 | 1 | 284 | 0.0035 | 3111 | c.101 others(3130): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3104): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0074 | 1 | 284 | 0.0035 | 3111 | c.101 others(3130): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3104): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0014 | 1 | 284 | 0.0035 | 3111 | c.101 others(3130): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3104): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0049 | 1 | 284 | 0.0035 | 3111 | c.101 others(3130): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3104): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 280 | 0.0036 | 3111 | c.115 others(3130): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3104): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 280 | 0.0036 | 3111 | c.115 others(3130): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(3104): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 289 | 0.0035 | 3111 | c.228 others(3132): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3104): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 274 | 0.0037 | 3111 | c.307 others(3130): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3104): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0144 | 1 | 292 | 0.0034 | 3111 | c.218 others(3126): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680807 | G | GTGTGTCT others(3104): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0042a0001c0001t0007g0021 | 2 | 86 | 0.0233 | 3111 | c.83- others(3130): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |