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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(3167): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0250 | 1 | 428 | 0.0023 | 3174 | c.283 others(3191): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(3167): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0144 | 1 | 279 | 0.0036 | 3174 | c.215 others(3191): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(3167): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02258.hp2 HG02886.hp2 |
a0001 | a0001c0014a0001c0031 | a0001c0014t0001a0001c0031t0001 | a0001c0014t0001g0262a0001c0014t0001g0263a0001c0031t0001g0261 | 3 | 279 | 0.0108 | 3174 | c.215 others(3191): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3168): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3175 | c.*85 others(3186): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45222745 | T | TAACAAAT others(3168): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0179 | a0001c0001t0179g0340 | 1 | 398 | 0.0025 | 3175 | c.65- others(3192): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(3168): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 133 | 0.0075 | 3175 | c.351 others(3194): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
TNS4_chr17_40470834_40506623 | 40502443 | C | CGCTGGTC others(3168): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0327 | 1 | 392 | 0.0026 | 3175 | c.-10 others(3186): Show |
TNS4 | ENSG00000131746.13 | transcript | ENST00000254051.11 | protein_coding | 821 | chr17 | TogoVar | ||||||
ZNF461_chr19_36631618_36671837 | 36661642 | T | TAAGATGA others(3168): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 354 | 0.0028 | 3175 | c.9+3 others(3188): Show |
ZNF461 | ENSG00000197808.14 | transcript | ENST00000588268.6 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGTCGGCG others(3169): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0035 | a0035c0104 | a0035c0104t0002 | a0035c0104t0002g0064 | 1 | 338 | 0.0030 | 3176 | c.300 others(3193): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(3169): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0088 | 1 | 116 | 0.0086 | 3176 | c.-52 others(3197): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3169): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0035 | a0004c0035t0012 | a0004c0035t0012g0013 | 1 | 264 | 0.0038 | 3176 | c.400 others(3195): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945216 | C | CTCTCCTC others(3169): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 264 | 0.0038 | 3176 | c.400 others(3195): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM168A_chr11_73395487_73603112 | 73505215 | T | TAAAAGTC others(3169): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0125 | 1 | 180 | 0.0056 | 3176 | c.-18 others(3195): Show |
FAM168A | ENSG00000054965.11 | transcript | ENST00000356467.5 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3169): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 186 | 0.0054 | 3176 | c.723 others(3193): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(3170): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0023 | 1 | 104 | 0.0096 | 3177 | c.830 others(3194): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3170): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0006 | a0006c0020 | a0006c0020t0012 | a0006c0020t0012g0085 | 1 | 236 | 0.0042 | 3177 | c.294 others(3194): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143865758 | T | TGGGCCTG others(3170): Show |
conservative_inframe_insertion | MODERATE | HG03540.hp2 | a0225 | a0225c0315 | a0225c0315t0003 | a0225c0315t0003g0139 | 1 | 424 | 0.0024 | 3177 | c.749 others(3186): Show |
p.Ala others(3192): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7570/16005 | 7495/15267 | 2499/5088 | chr8 | TogoVar | ||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3170): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0015 | 1 | 203 | 0.0049 | 3177 | c.-12 others(3196): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3170): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0104a0001c0001t0001g0110 | 3 | 158 | 0.0190 | 3177 | c.284 others(3196): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3170): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0124 | 1 | 158 | 0.0063 | 3177 | c.284 others(3196): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3171): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0097 | 1 | 236 | 0.0042 | 3178 | c.294 others(3195): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3171): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 236 | 0.0042 | 3178 | c.294 others(3195): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251101 | C | CCCCCACA others(3171): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 116 | 0.0086 | 3178 | c.207 others(3197): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3171): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 276 | 0.0036 | 3178 | c.58- others(3195): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3171): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0191 | 1 | 350 | 0.0029 | 3178 | c.192 others(3193): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3172): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0090 | 1 | 264 | 0.0038 | 3179 | c.400 others(3198): 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(3172): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0185 | 1 | 264 | 0.0038 | 3179 | c.400 others(3198): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120429 | G | GGGAGAGG others(3172): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0314 | 1 | 368 | 0.0027 | 3179 | c.353 others(3194): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3172): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0014 | a0014c0017 | a0014c0017t0038 | a0014c0017t0038g0236 | 1 | 292 | 0.0034 | 3179 | c.218 others(3194): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 978353 | T | TGTGGGGA others(3173): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 40 | 0.0250 | 3180 | c.73+ others(3197): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 102081 | C | CCTGGAAA others(3173): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0022 | a0022c0046 | a0022c0046t0047 | a0022c0046t0047g0180 | 1 | 210 | 0.0048 | 3180 | c.45+ others(3195): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62349742 | G | GGTGGGGG others(3174): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0125 | a0002c0125t0001 | a0002c0125t0001g0027 | 1 | 186 | 0.0054 | 3181 | c.956 others(3198): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3174): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0009 | a0009c0009 | a0009c0009t0012 | a0009c0009t0012g0261 | 1 | 292 | 0.0034 | 3181 | c.218 others(3196): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680807 | G | GTGTGTCT others(3174): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 86 | 0.0116 | 3181 | c.83- others(3200): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(3174): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 295 | 0.0034 | 3181 | c.126 others(3200): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ANO2_chr12_5557655_5950259 | 5932353 | C | CAAAGTGA others(3175): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0077 | 1 | 162 | 0.0062 | 3182 | c.23- others(3197): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3175): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0007 | a0007c0049 | a0007c0049t0002 | a0007c0049t0002g0231 | 1 | 282 | 0.0036 | 3182 | c.258 others(3199): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3176): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 298 | 0.0034 | 3183 | c.955 others(3200): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3176): Show |
disruptive_inframe_insertion | MODERATE | HG03942.hp1 | a0267 | a0267c0137 | a0267c0137t0003 | a0267c0137t0003g0304 | 1 | 424 | 0.0024 | 3183 | c.688 others(3192): Show |
p.Gly others(3198): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3176): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03486.hp1 |
a0001a0003 | a0001c0002a0003c0017 | a0001c0002t0002a0003c0017t0002 | a0001c0002t0002g0008a0003c0017t0002g0069 | 2 | 282 | 0.0071 | 3183 | c.258 others(3200): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3176): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035a0001c0002t0002g0066 | 2 | 282 | 0.0071 | 3183 | c.258 others(3200): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3176): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0212 | 1 | 282 | 0.0036 | 3183 | c.258 others(3200): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131680807 | G | GTGTGTCT others(3176): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0023a0001c0001t0002g0022a0001c0001t0004g0005 | 3 | 86 | 0.0349 | 3183 | c.83- others(3202): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGAGGGGA others(3176): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 133 | 0.0075 | 3183 | c.351 others(3202): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3176): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0305 | 1 | 362 | 0.0028 | 3183 | c.-18 others(3204): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3176): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0047 | 1 | 362 | 0.0028 | 3183 | c.-18 others(3204): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GAGGGGAA others(3177): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0221 | 1 | 308 | 0.0033 | 3184 | c.157 others(3199): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(3177): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0278 | 1 | 290 | 0.0035 | 3184 | c.129 others(3203): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3177): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0044 | a0044c0026 | a0044c0026t0001 | a0044c0026t0001g0030 | 1 | 292 | 0.0034 | 3184 | c.218 others(3199): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149057706 | C | CACACACA others(3177): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0026 | 1 | 344 | 0.0029 | 3184 | c.281 others(3201): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 27/29 | chr1 | TogoVar |