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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3332): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113a0001c0001t0002g0126 | 2 | 423 | 0.0047 | 3339 | c.*19 others(3350): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408307 | C | CGCATTTG others(3332): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 266 | 0.0038 | 3339 | c.*12 others(3350): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 288 | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408478 | T | TAGATAGC others(3332): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 266 | 0.0038 | 3339 | c.*13 others(3350): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 459 | chr1 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3333): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0018 | a0018c0054 | a0018c0054t0014 | a0018c0054t0014g0279 | 1 | 282 | 0.0036 | 3340 | c.258 others(3357): 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(3333): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0095 | 1 | 282 | 0.0036 | 3340 | c.258 others(3357): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3333): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0035 | a0035c0153 | a0035c0153t0001 | a0035c0153t0001g0126 | 1 | 282 | 0.0036 | 3340 | c.299 others(3355): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3334): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227a0001c0001t0001g0249 | 2 | 264 | 0.0076 | 3341 | c.400 others(3360): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3335): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03209.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0045 | a0001c0002t0003g0037a0001c0002t0003g0041a0001c0002t0045g0036 | 3 | 244 | 0.0123 | 3342 | c.24+ others(3359): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3335): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0040 | 1 | 244 | 0.0041 | 3342 | c.24+ others(3359): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3335): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp2 others(16): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0003a0001c0002t0032a0003c0005t0003others(1): Show | a0001c0002t0003g0024a0001c0002t0003g0025a0001c0002t0003g0026others(16): Show | 19 | 244 | 0.0779 | 3342 | c.24+ others(3359): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3335): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0023 | 1 | 244 | 0.0041 | 3342 | c.24+ others(3359): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3335): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0090 | a0090c0129 | a0090c0129t0015 | a0090c0129t0015g0032 | 1 | 282 | 0.0036 | 3342 | c.299 others(3357): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3335): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 216 | 0.0046 | 3342 | c.-51 others(3361): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208176945 | A | ATACATAT others(3336): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 342 | 0.0029 | 3343 | c.366 others(3360): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3336): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0188 | 1 | 244 | 0.0041 | 3343 | c.24+ others(3360): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3336): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0055 | a0002c0003t0055g0150 | 1 | 244 | 0.0041 | 3343 | c.24+ others(3360): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3336): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0004 | a0004c0006 | a0004c0006t0021 | a0004c0006t0021g0012 | 1 | 244 | 0.0041 | 3343 | c.24+ others(3360): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3336): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0026a0001c0002t0027a0001c0002t0028 | a0001c0002t0026g0212a0001c0002t0027g0189a0001c0002t0028g0190 | 3 | 244 | 0.0123 | 3343 | c.24+ others(3360): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3336): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG01975.hp1 others(7): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0006a0001c0002t0007a0001c0002t0038others(2): Show | a0001c0002t0006g0042a0001c0002t0006g0044a0001c0002t0006g0191others(7): Show | 10 | 244 | 0.0410 | 3343 | c.24+ others(3360): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3336): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0139 | 1 | 244 | 0.0041 | 3343 | c.24+ others(3360): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3336): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 323 | 0.0031 | 3343 | c.-21 others(3354): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3336): Show |
intron_variant | MODIFIER | HG02273.hp2 HG04204.hp2 |
a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0080a0002c0009t0002g0081 | 2 | 282 | 0.0071 | 3343 | c.258 others(3360): 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(3336): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0270 | 1 | 282 | 0.0036 | 3343 | c.258 others(3360): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3336): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 216 | 0.0046 | 3343 | c.-51 others(3362): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3336): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 216 | 0.0046 | 3343 | c.-51 others(3362): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3337): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0273 | 1 | 390 | 0.0026 | 3344 | c.109 others(3359): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3337): Show |
downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3344 | c.*85 others(3355): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3337): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 316 | 0.0032 | 3344 | c.44- others(3357): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3337): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0157 | 1 | 244 | 0.0041 | 3344 | c.24+ others(3361): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3337): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0141 | 1 | 244 | 0.0041 | 3344 | c.24+ others(3361): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3337): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0004 | a0002c0004t0048 | a0002c0004t0048g0017 | 1 | 244 | 0.0041 | 3344 | c.24+ others(3361): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3337): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0046 | 1 | 244 | 0.0041 | 3344 | c.24+ others(3361): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3337): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0194 | 1 | 244 | 0.0041 | 3344 | c.24+ others(3361): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3337): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02723.hp1 HG03688.hp2 others(5): Show |
a0004a0005 | a0004c0006a0005c0007 | a0004c0006t0008a0004c0006t0022a0005c0007t0008 | a0004c0006t0008g0002a0004c0006t0008g0006a0004c0006t0008g0007others(5): Show | 8 | 244 | 0.0328 | 3344 | c.24+ others(3361): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3337): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0005 | a0005c0007 | a0005c0007t0008 | a0005c0007t0008g0010 | 1 | 244 | 0.0041 | 3344 | c.24+ others(3361): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3337): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG02976.hp1 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0010a0002c0004t0033 | a0002c0004t0010g0229a0002c0004t0010g0230a0002c0004t0010g0231others(4): Show | 7 | 244 | 0.0287 | 3344 | c.24+ others(3361): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCCTTC others(3337): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0020 | a0020c0109 | a0020c0109t0003 | a0020c0109t0003g0118 | 1 | 174 | 0.0058 | 3344 | c.193 others(3363): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3337): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0005 | 1 | 186 | 0.0054 | 3344 | c.723 others(3361): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364372 | C | CCCACACT others(3337): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0023 | 1 | 290 | 0.0035 | 3344 | c.129 others(3363): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150536 | G | GCTCCTAC others(3337): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 294 | 0.0034 | 3344 | c.902 others(3359): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3337): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0014 | a0014c0042 | a0014c0042t0001 | a0014c0042t0001g0173 | 1 | 216 | 0.0046 | 3344 | c.-51 others(3363): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3337): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0150 | 1 | 214 | 0.0047 | 3344 | c.206 others(3363): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3338): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0003 | a0002c0003t0043 | a0002c0003t0043g0155 | 1 | 244 | 0.0041 | 3345 | c.24+ others(3362): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3338): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02630.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0147a0002c0003t0004g0167a0002c0003t0004g0168others(4): Show | 7 | 244 | 0.0287 | 3345 | c.24+ others(3362): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3338): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01257.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004a0002c0003t0016others(1): Show | a0002c0003t0002g0145a0002c0003t0004g0151a0002c0003t0004g0152others(8): Show | 11 | 244 | 0.0451 | 3345 | c.24+ others(3362): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3338): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0008 | a0002c0008t0012 | a0002c0008t0012g0237 | 1 | 244 | 0.0041 | 3345 | c.24+ others(3362): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3338): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 NA20129.hp1 |
a0002 | a0002c0008 | a0002c0008t0012 | a0002c0008t0012g0014a0002c0008t0012g0015a0002c0008t0012g0236 | 3 | 244 | 0.0123 | 3345 | c.24+ others(3362): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3338): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0241 | 1 | 244 | 0.0041 | 3345 | c.24+ others(3362): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3338): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18964.hp1 |
a0002a0005 | a0002c0004a0005c0007 | a0002c0004t0014a0005c0007t0008 | a0002c0004t0014g0242a0005c0007t0008g0009 | 2 | 244 | 0.0082 | 3345 | c.24+ others(3362): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163207 | C | CCCTCTCC others(3338): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0209 | 1 | 282 | 0.0036 | 3345 | c.258 others(3362): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |