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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2048): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 188 | 0.0053 | 2055 | c.147 others(2072): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2049): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01258.hp1 HG01496.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0039a0002c0002t0046 | a0002c0002t0008g0065a0002c0002t0008g0068a0002c0002t0008g0069others(3): Show | 6 | 218 | 0.0275 | 2056 | c.108 others(2073): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2049): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02559.hp1 HG02896.hp1 others(2): Show |
a0002 | a0002c0002a0002c0013 | a0002c0002t0003a0002c0002t0040a0002c0013t0009 | a0002c0002t0003g0100a0002c0002t0003g0101a0002c0002t0040g0096others(1): Show | 5 | 218 | 0.0229 | 2056 | c.108 others(2073): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2049): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 218 | 0.0046 | 2056 | c.108 others(2073): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2049): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 334 | 0.0030 | 2056 | c.147 others(2073): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2049): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 334 | 0.0030 | 2056 | c.147 others(2073): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2049): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 366 | 0.0027 | 2056 | c.648 others(2073): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650774 | T | TGACTGTG others(2049): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 91 | 0.0110 | 2056 | c.177 others(2075): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2049): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 382 | 0.0026 | 2056 | c.-23 others(2073): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586453 | G | GGGGGGAA others(2049): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0200 | 1 | 308 | 0.0033 | 2056 | c.157 others(2073): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(2049): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 373 | 0.0027 | 2056 | c.115 others(2073): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121748001 | A | ACTGGGGT others(2049): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0177 | 1 | 314 | 0.0032 | 2056 | c.189 others(2071): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2050): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0168 | 1 | 218 | 0.0046 | 2057 | c.108 others(2074): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2050): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0037 | 1 | 218 | 0.0046 | 2057 | c.108 others(2074): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923903 | C | CAGCCCCC others(2050): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0266 | 1 | 350 | 0.0029 | 2057 | c.488 others(2074): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911547 | T | TGGGGGGT others(2050): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0117 | 1 | 170 | 0.0059 | 2057 | c.101 others(2076): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2050): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0069 | a0069c0096 | a0069c0096t0002 | a0069c0096t0002g0168 | 1 | 170 | 0.0059 | 2057 | c.101 others(2076): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(2050): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 250 | 0.0040 | 2057 | c.259 others(2076): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2050): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0111 | 1 | 158 | 0.0063 | 2057 | c.*11 others(2078): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2050): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0117 | 1 | 404 | 0.0025 | 2057 | c.125 others(2074): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2050): Show |
frameshift_variant others(1): Show |
HIGH | NA19081.hp1 | a0174 | a0174c0268 | a0174c0268t0001 | a0174c0268t0001g0207 | 1 | 342 | 0.0029 | 2057 | c.485 others(2066): Show |
p.Ser others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
ACAP3_chr1_1287391_1312930 | 1288275 | C | CCGTGTCT others(2051): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 295 | 0.0034 | 2058 | c.*52 others(2069): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4115 | chr1 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111457 | A | AACCTGCC others(2051): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 368 | 0.0027 | 2058 | c.401 others(2075): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111793 | C | CACCTGCC others(2051): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0042 | 1 | 368 | 0.0027 | 2058 | c.401 others(2075): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2051): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 218 | 0.0046 | 2058 | c.108 others(2075): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2051): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0056 | 1 | 298 | 0.0034 | 2058 | c.126 others(2075): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(2051): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0067 | a0067c0078 | a0067c0078t0001 | a0067c0078t0001g0165 | 1 | 170 | 0.0059 | 2058 | c.101 others(2077): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MUC12_chr7_100964565_101023936 | 100995239 | A | ACACAACA others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02148.hp1 NA18989.hp1 |
a0109a0171 | a0109c0164a0171c0136 | a0109c0164t0001a0171c0136t0001 | a0109c0164t0001g0229a0171c0136t0001g0183 | 2 | 342 | 0.0059 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG03225.hp2 | a0170 | a0170c0137 | a0170c0137t0001 | a0170c0137t0001g0035 | 1 | 342 | 0.0029 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02698.hp1 | a0116 | a0116c0145 | a0116c0145t0001 | a0116c0145t0001g0072 | 1 | 342 | 0.0029 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG01070.hp2 | a0117 | a0117c0146 | a0117c0146t0001 | a0117c0146t0001g0228 | 1 | 342 | 0.0029 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG00741.hp1 | a0098 | a0098c0147 | a0098c0147t0001 | a0098c0147t0001g0087 | 1 | 342 | 0.0029 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(13): Show |
a0020a0021a0087others(11): Show | a0020c0023a0021c0022a0087c0138others(11): Show | a0020c0023t0001a0021c0022t0001a0087c0138t0001others(11): Show | a0020c0023t0001g0188a0020c0023t0001g0200a0021c0022t0001g0283others(13): Show | 16 | 342 | 0.0468 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
a0001a0008a0009others(64): Show | a0001c0001a0001c0168a0001c0181others(67): Show | a0001c0001t0001a0001c0168t0001a0001c0181t0001others(67): Show | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0197others(78): Show | 86 | 342 | 0.2515 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02970.hp1 HG06807.hp1 |
a0027 | a0027c0031 | a0027c0031t0001 | a0027c0031t0001g0190a0027c0031t0001g0192 | 2 | 342 | 0.0059 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(6): Show |
a0025a0121a0122others(5): Show | a0025c0032a0121c0217a0122c0216others(5): Show | a0025c0032t0001a0121c0217t0001a0122c0216t0001others(5): Show | a0025c0032t0001g0026a0025c0032t0001g0295a0121c0217t0001g0025others(6): Show | 9 | 342 | 0.0263 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | NA19010.hp1 NA19090.hp1 |
a0026 | a0026c0202a0026c0231 | a0026c0202t0001a0026c0231t0001 | a0026c0202t0001g0196a0026c0231t0001g0193 | 2 | 342 | 0.0059 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG03516.hp2 | a0168 | a0168c0139 | a0168c0139t0001 | a0168c0139t0001g0131 | 1 | 342 | 0.0029 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02056.hp2 | a0008 | a0008c0205 | a0008c0205t0001 | a0008c0205t0001g0234 | 1 | 342 | 0.0029 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995926 | C | CCACAACT others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02896.hp1 HG02897.hp1 |
a0024 | a0024c0021 | a0024c0021t0001 | a0024c0021t0001g0022 | 2 | 342 | 0.0059 | 2058 | c.536 others(2067): Show |
p.Thr others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 5426/16366 | 5368/16008 | 1790/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995926 | C | CCACAACT others(2051): Show |
conservative_inframe_insertion | MODERATE | NA19240.hp1 | a0134 | a0134c0201 | a0134c0201t0001 | a0134c0201t0001g0191 | 1 | 342 | 0.0029 | 2058 | c.536 others(2067): Show |
p.Thr others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 5426/16366 | 5368/16008 | 1790/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 100995926 | C | CCACAACT others(2051): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp2 | a0120 | a0120c0210 | a0120c0210t0001 | a0120c0210t0001g0026 | 1 | 342 | 0.0029 | 2058 | c.536 others(2067): Show |
p.Thr others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 5426/16366 | 5368/16008 | 1790/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101000146 | G | GGCCCAGG others(2051): Show |
disruptive_inframe_insertion | MODERATE | HG00738.hp2 HG04228.hp1 NA18950.hp2 |
a0099a0107a0114 | a0099c0148a0107c0151a0114c0161 | a0099c0148t0001a0107c0151t0001a0114c0161t0001 | a0099c0148t0001g0242a0107c0151t0001g0221a0114c0161t0001g0243 | 3 | 342 | 0.0088 | 2058 | c.974 others(2067): Show |
p.Pro others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 9808/16366 | 9750/16008 | 3250/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101000149 | C | CCAGGCTC others(2051): Show |
disruptive_inframe_insertion | MODERATE | HG03654.hp2 | a0086 | a0086c0228 | a0086c0228t0001 | a0086c0228t0001g0075 | 1 | 342 | 0.0029 | 2058 | c.974 others(2067): Show |
p.Pro others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 9808/16366 | 9750/16008 | 3250/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
WDR64_chr1_241647281_241807777 | 241675205 | C | CCCTTCCT others(2051): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0318 | 1 | 326 | 0.0031 | 2058 | c.483 others(2073): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF407_chr18_74592870_75070671 | 74617136 | A | ACACATCC others(2051): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0018 | a0007c0018t0009 | a0007c0018t0009g0091 | 1 | 92 | 0.0109 | 2058 | c.-53 others(2077): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2052): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0095 | 1 | 218 | 0.0046 | 2059 | c.108 others(2076): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2052): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG01257.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061a0001c0001t0004g0104a0001c0001t0004g0173 | 3 | 390 | 0.0077 | 2059 | c.972 others(2072): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(2052): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 323 | 0.0031 | 2059 | c.-16 others(2070): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2052): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0119 | 1 | 158 | 0.0063 | 2059 | c.*11 others(2080): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar |