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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1152): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0117 | 1 | 420 | 0.0024 | 1159 | c.421 others(1172): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1152): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0273 | 1 | 420 | 0.0024 | 1159 | c.421 others(1172): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1152): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0307 | 1 | 420 | 0.0024 | 1159 | c.421 others(1172): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PTPRT_chr20_42067756_43194906 | 43068103 | G | GGAGGGAG others(1152): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0020 | 1 | 62 | 0.0161 | 1159 | c.88+ others(1178): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1152): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 432 | 0.0023 | 1159 | c.-37 others(1170): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934390 | T | TATATATA others(1152): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 324 | 0.0031 | 1159 | c.115 others(1176): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098676 | G | GGCCCCCC others(1152): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 118 | 0.0085 | 1159 | c.125 others(1176): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852527 | C | CCACCCCC others(1152): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0345 | 1 | 356 | 0.0028 | 1159 | c.646 others(1176): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TTLL10_chr1_1168880_1202936 | 1202530 | G | GCCCCGAG others(1152): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0007 | 1 | 382 | 0.0026 | 1159 | c.*46 others(1170): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4595 | chr1 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870185 | C | CCACACCC others(1152): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 338 | 0.0030 | 1159 | c.*35 others(1178): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(1152): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp2 HG03490.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0013 | a0001c0002t0008g0114a0001c0002t0008g0119a0001c0002t0008g0120others(1): Show | 4 | 468 | 0.0086 | 1159 | c.-6- others(1174): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1153): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0088a0001c0002t0001g0089a0001c0003t0001g0014others(2): Show | 5 | 246 | 0.0203 | 1160 | c.191 others(1179): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(1153): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 1160 | c.*36 others(1171): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585330 | A | AGGAGGGG others(1153): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 354 | 0.0057 | 1160 | c.-22 others(1177): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(1153): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 1 | 58 | 0.0172 | 1160 | c.234 others(1181): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCTCAGAT others(1153): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0006 | a0001c0006t0021 | a0001c0006t0021g0004 | 1 | 106 | 0.0094 | 1160 | c.169 others(1179): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCTCAGAT others(1153): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0065 | 1 | 106 | 0.0094 | 1160 | c.169 others(1179): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587977 | C | CCGTGTCA others(1153): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0124 | 1 | 348 | 0.0029 | 1160 | c.928 others(1175): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1153): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 208 | 0.0048 | 1160 | c.192 others(1179): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15933105 | G | GAGAGGAG others(1153): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0001 | a0002c0001t0185 | a0002c0001t0185g0368 | 1 | 386 | 0.0026 | 1160 | c.198 others(1177): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933625 | G | GAGAGGAA others(1153): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0026 | 1 | 386 | 0.0026 | 1160 | c.198 others(1175): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933645 | G | GAGAGGAA others(1153): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19002.hp2 |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0073 | a0001c0004t0002g0043a0001c0004t0073g0022 | 2 | 386 | 0.0052 | 1160 | c.198 others(1175): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15934041 | C | CGGGGAGA others(1153): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0004 | a0001c0004t0072 | a0001c0004t0072g0033 | 1 | 386 | 0.0026 | 1160 | c.198 others(1175): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15934041 | C | CGGGGAGA others(1153): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0027 | 1 | 386 | 0.0026 | 1160 | c.198 others(1175): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137669339 | C | CTCACCGA others(1153): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0034 | 1 | 170 | 0.0059 | 1160 | c.22- others(1177): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | chr9 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1153): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0287 | 1 | 292 | 0.0034 | 1160 | c.228 others(1177): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1153): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206 | 1 | 418 | 0.0024 | 1160 | c.119 others(1179): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1153): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0036 | 1 | 418 | 0.0024 | 1160 | c.119 others(1179): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1153): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0282 | 1 | 418 | 0.0024 | 1160 | c.119 others(1179): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316126 | G | GACACACA others(1153): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0001 | 2 | 155 | 0.0129 | 1160 | c.487 others(1175): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1153): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0199 | 1 | 366 | 0.0027 | 1160 | c.-36 others(1171): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | ||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1153): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0059 | 1 | 348 | 0.0029 | 1160 | c.*87 others(1169): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1153): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 194 | 0.0052 | 1160 | c.-12 others(1179): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876807 | G | GTTATGGC others(1153): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0005 | a0005c0008 | a0005c0008t0005 | a0005c0008t0005g0006 | 1 | 274 | 0.0037 | 1160 | c.224 others(1179): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(1153): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0124 | 1 | 382 | 0.0026 | 1160 | c.-10 others(1171): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1153): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0046 | a0046c0067 | a0046c0067t0003 | a0046c0067t0003g0112 | 1 | 134 | 0.0075 | 1160 | c.575 others(1181): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982185 | T | TGGGGGGG others(1153): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0094 | a0001c0094t0001 | a0001c0094t0001g0131 | 1 | 134 | 0.0075 | 1160 | c.575 others(1181): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402342 | C | CGACCCGC others(1153): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 216 | 0.0046 | 1160 | c.173 others(1177): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3162889 | G | GCGCAGAA others(1153): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0100 | 1 | 210 | 0.0048 | 1160 | c.38- others(1177): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1153): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005 | a0001c0003t0002g0001a0001c0003t0005g0066 | 2 | 432 | 0.0046 | 1160 | c.-37 others(1171): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1153): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 432 | 0.0023 | 1160 | c.-37 others(1171): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1153): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 432 | 0.0023 | 1160 | c.-37 others(1171): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(1153): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0167 | 1 | 334 | 0.0030 | 1160 | c.45- others(1175): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77294262 | C | CGGGTAAG others(1153): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0037a0001c0002t0017 | a0001c0001t0011g0053a0001c0001t0037g0011a0001c0002t0017g0085 | 3 | 160 | 0.0188 | 1160 | c.389 others(1181): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC12A7_chr5_1045384_1117063 | 1098492 | T | TTCTAACC others(1153): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 118 | 0.0085 | 1160 | c.125 others(1177): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC9A1_chr1_27093809_27160125 | 27107220 | T | TACACACA others(1153): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 234 | 0.0043 | 1160 | c.128 others(1177): Show |
SLC9A1 | ENSG00000090020.11 | transcript | ENST00000263980.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCATCTT others(1153): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 356 | 0.0028 | 1160 | c.646 others(1177): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1153): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 3 | 360 | 0.0083 | 1160 | c.*24 others(1171): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1153): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1160 | c.*24 others(1171): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687192 | C | CCCCGTGA others(1154): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 246 | 0.0041 | 1161 | c.-15 others(1172): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1347 | chr8 | TogoVar |