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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(881): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039 | 1 | 125 | 0.0080 | 888 | c.*11 others(899): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3269267 | C | CCTCCGTG others(881): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0096 | a0001c0004t0096g0055 | 1 | 288 | 0.0035 | 888 | c.64- others(903): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50057640 | T | TGGGGTCA others(881): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 224 | 0.0045 | 888 | c.-39 others(903): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(881): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0148 | 1 | 167 | 0.0060 | 888 | c.*53 others(899): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292712 | G | GACTCTAG others(881): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 404 | 0.0025 | 888 | c.339 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294258 | G | GCAAGTTA others(881): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 404 | 0.0025 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(881): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 404 | 0.0025 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(881): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 404 | 0.0025 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(881): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 404 | 0.0025 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(881): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 404 | 0.0025 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(882): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0083 | a0001c0003t0083g0285 | 1 | 337 | 0.0030 | 889 | c.61+ others(904): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 286 | 0.0035 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0061 | 1 | 286 | 0.0035 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 286 | 0.0035 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 286 | 0.0035 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 286 | 0.0035 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687797 | C | CGTGACCA others(882): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 246 | 0.0041 | 889 | c.-21 others(900): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1952 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(882): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0075 | 1 | 210 | 0.0048 | 889 | c.273 others(906): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404697 | T | TGTGAGGG others(882): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 322 | 0.0031 | 889 | c.*23 others(900): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 747 | chr19 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185766 | C | CATAGGGC others(882): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 338 | 0.0030 | 889 | c.300 others(906): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(882): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG01515.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0013others(1): Show | a0001c0003t0002a0001c0003t0022a0001c0004t0011others(2): Show | a0001c0003t0002g0042a0001c0003t0002g0058a0001c0003t0022g0077others(4): Show | 8 | 242 | 0.0331 | 889 | c.276 others(904): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(882): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0248others(3): Show | 6 | 432 | 0.0139 | 889 | c.413 others(906): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCNL2_chr1_1380711_1404335 | 1382625 | A | ACCCTTCC others(882): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 370 | 0.0027 | 889 | c.*46 others(900): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 3085 | chr1 | TogoVar | ||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(882): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01123.hp1 HG01167.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(3): Show | 32 | 376 | 0.0851 | 889 | c.-38 others(900): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | ||||||
CRIP3_chr6_43300472_43313826 | 43312691 | G | ACTTGAGG others(882): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 376 | 0.0027 | 889 | c.-38 others(900): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3865 | chr6 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(882): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0003t0035a0001c0004t0002others(1): Show | a0001c0001t0003g0071a0001c0003t0035g0074a0001c0004t0002g0031others(2): Show | 5 | 80 | 0.0625 | 889 | c.159 others(910): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3316062 | C | CTACCACC others(882): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 250 | 0.0040 | 889 | c.259 others(908): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
HLF_chr17_55259960_55330187 | 55270916 | A | GCAGGCGT others(882): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0324 | 1 | 408 | 0.0025 | 889 | c.451 others(906): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(882): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0204 | 1 | 334 | 0.0030 | 889 | c.369 others(906): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197908037 | G | GTGAAGAG others(882): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01081.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0273a0001c0001t0002g0002a0001c0001t0002g0004others(20): Show | 23 | 280 | 0.0821 | 889 | c.963 others(906): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197908209 | A | ATGAAGTT others(882): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03209.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028a0001c0003t0001g0132 | 2 | 280 | 0.0071 | 889 | c.963 others(906): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(882): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 276 | 0.0036 | 889 | c.*65 others(900): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(882): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0272 | 1 | 312 | 0.0032 | 889 | c.-41 others(904): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGTCG others(882): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 375 | 0.0027 | 889 | c.-22 others(900): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(882): Show |
upstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 318 | 0.0031 | 889 | c.-49 others(900): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(882): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 318 | 0.0031 | 889 | c.-49 others(900): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(882): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224 | 1 | 318 | 0.0031 | 889 | c.-49 others(900): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(882): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 194 | 0.0052 | 889 | c.-12 others(908): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(882): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 272 | 0.0037 | 889 | c.250 others(904): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(882): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 272 | 0.0037 | 889 | c.250 others(904): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189475 | A | ATATAAAA others(882): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0064 | 1 | 330 | 0.0030 | 889 | c.-5+ others(904): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(882): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0182 | 1 | 330 | 0.0030 | 889 | c.-5+ others(904): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841420 | C | CGCATCTC others(882): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 242 | 0.0041 | 889 | c.361 others(908): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(882): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 242 | 0.0041 | 889 | c.361 others(908): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841628 | A | AAGCAGGT others(882): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202 | 1 | 242 | 0.0041 | 889 | c.361 others(908): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
RAB39B_chrX_155253235_155269491 | 155257645 | T | TTCCCTAG others(882): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(165): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0015others(9): Show | 168 | 292 | 0.5753 | 889 | c.*31 others(900): Show |
RAB39B | ENSG00000155961.5 | transcript | ENST00000369454.4 | protein_coding | 589 | chrX | TogoVar | ||||||
RAB39B_chrX_155253235_155269491 | 155257645 | T | TTCCCTAG others(882): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0009 | 1 | 292 | 0.0034 | 889 | c.*31 others(900): Show |
RAB39B | ENSG00000155961.5 | transcript | ENST00000369454.4 | protein_coding | 589 | chrX | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACCCT others(882): Show |
intron_variant | MODIFIER | HG02735.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0298a0001c0001t0024g0196 | 2 | 338 | 0.0059 | 889 | c.143 others(906): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304099 | A | AGGGAGGG others(882): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 133 | 0.0075 | 889 | c.351 others(908): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80963694 | C | CGTCCCCT others(882): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0016 | a0001c0016t0031 | a0001c0016t0031g0011 | 1 | 196 | 0.0051 | 889 | c.394 others(906): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |