view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSLN_chr16_755734_773862 | 767711 | G | GGCGTGGA others(99): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0101 | 1 | 388 | 0.0026 | 106 | c.159 others(123): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767741 | T | TGTGGAGG others(99): Show |
intron_variant | MODIFIER | HG03017.hp2 HG04228.hp2 |
a0001 | a0001c0001a0001c0054 | a0001c0001t0001a0001c0054t0001 | a0001c0001t0001g0109 a0001c0054t0001g0206 |
2 | 388 | 0.0052 | 106 | c.159 others(123): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767761 | G | GGGGGCAC others(99): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0322 | 1 | 388 | 0.0026 | 106 | c.159 others(123): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767947 | A | AGGGGGGA others(99): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0213 | 1 | 388 | 0.0026 | 106 | c.159 others(123): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767988 | G | GGGCACGT others(99): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0178 | 1 | 388 | 0.0026 | 106 | c.159 others(123): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133403044 | A | ATCCCTGC others(99): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0038others(1): Show | a0001c0001t0003g0022 a0001c0001t0003g0052 a0001c0001t0003g0262 others(10): Show |
20 | 428 | 0.0467 | 106 | c.752 others(121): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133403149 | A | AGTCCCTG others(99): Show |
intron_variant | MODIFIER | HG00741.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0030 | a0001c0001t0012g0269 a0001c0001t0030g0283 |
2 | 428 | 0.0047 | 106 | c.752 others(121): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1022096 | C | CTGCCCTC others(99): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03209.hp2 others(1): Show |
a0012 | a0012c0057a0012c0207a0012c0208 | a0012c0057t0002a0012c0207t0008a0012c0208t0003 | a0012c0057t0002g0057 a0012c0207t0008g0276 a0012c0208t0003g0277 |
4 | 406 | 0.0099 | 106 | c.352 others(123): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 26/32 | chr11 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76702873 | G | GTATATAT others(99): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02132.hp1 HG03704.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0023 a0001c0001t0004g0152 a0001c0001t0004g0153 others(8): Show |
12 | 416 | 0.0289 | 106 | c.342 others(123): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591779 | T | TTCTTCTT others(99): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 360 | 0.0028 | 106 | c.-32 others(117): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3191 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591782 | T | TTCTTTTC others(99): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0327 | 1 | 360 | 0.0028 | 106 | c.-32 others(117): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3188 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591785 | T | TTTTCTTC others(99): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 360 | 0.0028 | 106 | c.-32 others(117): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3185 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591785 | T | TTTTCTTC others(99): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 360 | 0.0028 | 106 | c.-32 others(117): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3185 | chr12 | TogoVar | |||||||
MYEOV_chr11_69289155_69302287 | 69301114 | A | AGGCTCGC others(99): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 414 | 0.0024 | 106 | c.*47 others(117): Show |
MYEOV | ENSG00000172927.9 | transcript | ENST00000441339.3 | protein_coding | 3828 | chr11 | TogoVar | |||||||
MYEOV_chr11_69289155_69302287 | 69301144 | C | CGCTTCTA others(99): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01167.hp1 others(12): Show |
a0004a0016 | a0004c0004a0016c0016 | a0004c0004t0003a0016c0016t0003 | a0004c0004t0003g0001 a0016c0016t0003g0001 |
15 | 414 | 0.0362 | 106 | c.*47 others(117): Show |
MYEOV | ENSG00000172927.9 | transcript | ENST00000441339.3 | protein_coding | 3858 | chr11 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36316996 | A | ACCCGATC others(99): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0096 | 1 | 242 | 0.0041 | 106 | c.122 others(123): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 11/40 | chr22 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36317053 | A | AATCTCAT others(99): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 242 | 0.0041 | 106 | c.122 others(123): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 11/40 | chr22 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543805 | T | TGGTGCTG others(99): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 342 | 0.0029 | 106 | c.152 others(123): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77192977 | G | GTTGTGAT others(99): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0008 | a0008c0024 | a0008c0024t0001 | a0008c0024t0001g0184 | 1 | 356 | 0.0028 | 106 | c.415 others(123): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69891605 | C | CTTTCTTT others(99): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0307 | 1 | 322 | 0.0031 | 106 | c.903 others(121): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64173595 | C | CTTGTAGT others(99): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0095 others(53): Show |
56 | 223 | 0.2511 | 106 | c.-99 others(123): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64173833 | T | TCTCCTGC others(99): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 223 | 0.0045 | 106 | c.-99 others(123): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64173883 | T | TCTCCTCC others(99): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0217 | 1 | 223 | 0.0045 | 106 | c.-99 others(123): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175345 | C | CCTGTAGT others(99): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 223 | 0.0045 | 106 | c.-99 others(125): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | chr20 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64175598 | C | CCTGTAGT others(99): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0008 | a0008c0015 | a0008c0015t0015 | a0008c0015t0015g0110 | 1 | 223 | 0.0045 | 106 | c.-99 others(125): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | chr20 | TogoVar | |||||||
NAALAD2_chr11_90129663_90197894 | 90154996 | T | TATATATT others(99): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02165.hp2 NA18969.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005 | a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 others(4): Show |
7 | 364 | 0.0192 | 106 | c.796 others(123): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21265015 | T | TTATATAT others(99): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02258.hp1 others(3): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0003 | a0001c0004t0005a0002c0002t0002a0002c0002t0008others(2): Show | a0001c0004t0005g0025 a0002c0002t0002g0047 a0002c0002t0008g0098 others(3): Show |
6 | 132 | 0.0455 | 106 | c.56- others(123): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21265015 | T | TTATATAT others(99): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0042 | 1 | 132 | 0.0076 | 106 | c.56- others(123): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAPD2_chr12_6489102_6536955 | 6504170 | C | CATATATA others(99): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0267 | 1 | 432 | 0.0023 | 106 | c.128 others(123): Show |
NCAPD2 | ENSG00000010292.13 | transcript | ENST00000315579.10 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(99): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 384 | 0.0026 | 106 | c.-41 others(117): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | |||||||
NCK1_chr3_136857208_136956606 | 136893196 | A | ACACACAC others(99): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(68): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): Show |
71 | 232 | 0.3060 | 106 | c.-19 others(125): Show |
NCK1 | ENSG00000158092.7 | transcript | ENST00000481752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NCK2_chr2_105739912_105899272 | 105835388 | C | CATATATA others(99): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 334 | 0.0030 | 106 | c.-17 others(125): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCK2_chr2_105739912_105899272 | 105835388 | C | CGTATATA others(99): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 334 | 0.0030 | 106 | c.-17 others(125): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
NCOA6_chr20_34709774_34830651 | 34822016 | C | CCTCTGCC others(99): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 290 | 0.0035 | 106 | c.-16 others(125): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095637 | G | GGCCAGCC others(99): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 282 | 0.0036 | 106 | c.282 others(125): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095665 | G | GGGGGGGT others(99): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0169 | 1 | 282 | 0.0036 | 106 | c.282 others(125): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095665 | G | GGGGGGGT others(99): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0130 |
2 | 282 | 0.0071 | 106 | c.282 others(125): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095666 | G | GGGGGGTC others(99): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 282 | 0.0036 | 106 | c.282 others(125): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095666 | G | GGGGGGTC others(99): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 282 | 0.0036 | 106 | c.282 others(125): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095666 | G | GGGGGGTC others(99): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 282 | 0.0036 | 106 | c.282 others(125): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(99): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(14): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0002a0001c0001t0006a0001c0001t0019others(2): Show | a0001c0001t0002g0007 a0001c0001t0002g0181 a0001c0001t0002g0186 others(14): Show |
17 | 282 | 0.0603 | 106 | c.282 others(125): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(99): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 a0001c0001t0002g0216 a0001c0001t0002g0217 others(3): Show |
6 | 282 | 0.0213 | 106 | c.282 others(125): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NDUFV3_chr21_42888309_42918299 | 42894362 | A | ATATAATA others(99): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02965.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0039 a0001c0001t0017g0243 a0001c0001t0017g0244 |
4 | 348 | 0.0115 | 106 | c.48+ others(119): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61466708 | T | TATATATA others(99): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 156 | 0.0064 | 106 | c.*11 others(119): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3921 | chr1 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995550 | C | CTATATAC others(99): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03041.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0016a0001c0001t0031others(2): Show | a0001c0001t0002g0153 a0001c0001t0016g0238 a0001c0001t0031g0021 others(2): Show |
5 | 362 | 0.0138 | 106 | c.-75 others(125): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995572 | A | ATATACAC others(99): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 | 1 | 362 | 0.0028 | 106 | c.-75 others(125): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995572 | A | ATATATAC others(99): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0086 | 1 | 362 | 0.0028 | 106 | c.-75 others(125): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995572 | A | ATATATAC others(99): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02300.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0012 | a0001c0002t0003g0062 a0001c0002t0012g0063 |
2 | 362 | 0.0055 | 106 | c.-75 others(125): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1039514 | C | CGGTGCTG others(99): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 NA18939.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0009 | a0001c0001t0001g0070 a0001c0006t0009g0097 |
2 | 319 | 0.0063 | 106 | c.*11 others(117): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 572 | chr5 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397740 | G | GGGGGGGG others(99): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0273 | 1 | 356 | 0.0028 | 106 | c.91+ others(119): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |