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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LMF1_chr16_848634_975984 | 953651 | A | ACACCCAC others(187): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 179 | 0.0056 | 194 | c.503 others(209): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LRCOL1_chr12_132598151_132615582 | 132598516 | C | CCGCCTCC others(187): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 296 | 0.0068 | 194 | c.*48 others(205): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 4634 | chr12 | TogoVar | |||||||
LRFN2_chr6_40386591_40592364 | 40492026 | C | CTGTTTCC others(187): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 226 | 0.0044 | 194 | c.-18 others(213): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909094 | T | TTATATAA others(187): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0013 | 2 | 313 | 0.0064 | 194 | c.622 others(209): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRC23_chr12_6899822_6919229 | 6909119 | A | ATTATATA others(187): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 225 | 0.0044 | 194 | c.622 others(209): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909119 | A | ATTATATA others(187): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 | 1 | 225 | 0.0044 | 194 | c.622 others(209): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132358418 | C | CAGTGTGG others(187): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 286 | 0.0035 | 194 | c.117 others(213): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1940933 | C | CCCCAGGC others(187): Show |
intron_variant | MODIFIER | HG03041.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0157 |
2 | 238 | 0.0084 | 194 | c.159 others(213): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 16/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1940974 | C | CCCTCCTC others(187): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 162 | 0.0062 | 194 | c.159 others(213): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 16/18 | chr7 | TogoVar | |||||||
MADCAM1_chr19_491486_510343 | 491866 | C | CCCCCCTC others(187): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0014a0003c0041others(6): Show | a0001c0001t0001a0002c0014t0002a0003c0041t0001others(7): Show | a0001c0001t0001g0083 a0002c0014t0002g0171 a0003c0041t0001g0105 others(26): Show |
40 | 360 | 0.1111 | 194 | c.-46 others(205): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4619 | chr19 | TogoVar | |||||||
MADCAM1_chr19_491486_510343 | 491932 | C | CCCCCCTC others(187): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 NA18994.hp2 |
a0005 | a0005c0003 | a0005c0003t0001a0005c0003t0002 | a0005c0003t0001g0077 a0005c0003t0002g0049 |
2 | 360 | 0.0056 | 194 | c.-45 others(205): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4553 | chr19 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1333817 | A | ACCCACCC others(187): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 293 | 0.0034 | 194 | c.765 others(209): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1333845 | C | CCCTGCAC others(187): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 384 | 0.0026 | 194 | c.765 others(209): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113416420 | T | TATATATT others(187): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 231 | 0.0043 | 194 | c.316 others(213): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(187): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 87 | 0.0115 | 194 | c.525 others(211): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(187): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 87 | 0.0115 | 194 | c.525 others(211): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478003 | G | GGAGAGAG others(187): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 96 | 0.0104 | 194 | c.525 others(211): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAPK8IP1_chr11_45880651_45911465 | 45893251 | T | TAGAAAGG others(187): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0067 a0001c0001t0001g0068 others(1): Show |
10 | 388 | 0.0258 | 194 | c.102 others(211): Show |
MAPK8IP1 | ENSG00000121653.11 | transcript | ENST00000241014.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061746 | T | TATAATAT others(187): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 247 | 0.0040 | 194 | c.-31 others(205): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3071 | chr19 | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396546 | C | CTATATAT others(187): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 |
3 | 133 | 0.0226 | 194 | c.343 others(211): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(187): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0067 |
3 | 111 | 0.0270 | 194 | c.343 others(211): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113333838 | T | TATATGTA others(187): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0137 | 1 | 89 | 0.0112 | 194 | c.627 others(211): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCOLN2_chr1_84920583_85002113 | 84987489 | C | CATATATG others(187): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 249 | 0.0040 | 194 | c.77+ others(209): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94243452 | T | TATATGCG others(187): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG01928.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0002t0003a0002c0003t0007 | a0001c0001t0006g0075 a0001c0002t0003g0072 a0002c0003t0007g0074 others(1): Show |
4 | 262 | 0.0153 | 194 | c.-66 others(213): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090367 | A | AACCACAC others(187): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 374 | 0.0027 | 194 | c.557 others(211): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090506 | A | ACCCCCGC others(187): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 255 | 0.0039 | 194 | c.557 others(211): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(187): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0123 | 1 | 85 | 0.0118 | 194 | c.107 others(213): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544315 | T | TGGAGGGG others(187): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0100 | 1 | 248 | 0.0040 | 194 | c.153 others(213): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRS2_chr6_24397936_24431190 | 24417779 | T | TAAAAATA others(187): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0008 | a0001c0008t0022 | a0001c0008t0022g0177 | 1 | 429 | 0.0023 | 194 | c.837 others(209): Show |
MRS2 | ENSG00000124532.15 | transcript | ENST00000378386.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3326174 | A | ATATATAA others(187): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0024 | a0024c0031 | a0024c0031t0006 | a0024c0031t0006g0224 | 1 | 282 | 0.0035 | 194 | c.710 others(211): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3341104 | A | ATATAATA others(187): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 97 | 0.0103 | 194 | c.188 others(211): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | |||||||
MYO1B_chr2_191240404_191430386 | 191383498 | A | ATATATAT others(187): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG03471.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0005 a0001c0007t0001g0020 a0001c0007t0001g0074 |
3 | 164 | 0.0183 | 194 | c.135 others(211): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174130 | C | CCTGTAGC others(187): Show |
intron_variant | MODIFIER | HG02922.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0022 | a0001c0001t0003g0087 a0001c0003t0022g0115 |
2 | 204 | 0.0098 | 194 | c.-99 others(211): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174245 | C | CCTGTAGT others(187): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0115 | 1 | 132 | 0.0076 | 194 | c.-99 others(211): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | chr20 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64174630 | C | CCTGTAGC others(187): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0011 | a0002c0011t0010 | a0002c0011t0010g0096 | 1 | 152 | 0.0066 | 194 | c.-99 others(211): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174995 | G | GTAGTTGT others(187): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0213 | 1 | 217 | 0.0046 | 194 | c.-99 others(213): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175031 | T | TAGCATCT others(187): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0084 |
2 | 119 | 0.0168 | 194 | c.-99 others(213): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175177 | C | CCTGTAGC others(187): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0071 a0001c0002t0005g0090 |
2 | 118 | 0.0169 | 194 | c.-99 others(213): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64176227 | C | CCTGCAGC others(187): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 49 | 0.0204 | 194 | c.-99 others(213): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64176280 | C | CCTGCAGC others(187): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0112 a0001c0001t0003g0111 a0001c0001t0016g0110 |
3 | 208 | 0.0144 | 194 | c.-99 others(213): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90154996 | T | TATATATT others(187): Show |
intron_variant | MODIFIER | HG03139.hp1 NA18973.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0005 | a0001c0002t0001g0232 a0003c0004t0005g0245 |
2 | 285 | 0.0070 | 194 | c.796 others(211): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21331578 | T | TATACTCT others(187): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0077 | 1 | 42 | 0.0238 | 194 | c.738 others(211): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NDUFV3_chr21_42888309_42918299 | 42896313 | T | TGCCCGGC others(187): Show |
intron_variant | MODIFIER | HG01106.hp1 HG04199.hp1 |
a0002 | a0002c0002 | a0002c0002t0023a0002c0002t0040 | a0002c0002t0023g0044 a0002c0002t0040g0092 |
2 | 338 | 0.0059 | 194 | c.49- others(207): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805218 | C | CCCTCAGC others(187): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0039 | 1 | 318 | 0.0031 | 194 | c.-40 others(205): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3974 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806324 | A | ACCTCCGC others(187): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 309 | 0.0032 | 194 | c.-29 others(205): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2868 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807654 | T | TCCCCCCT others(187): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 296 | 0.0034 | 194 | c.-16 others(205): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1538 | chr2 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8656449 | G | GCCCACCT others(187): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0350 | 1 | 357 | 0.0028 | 194 | c.-16 others(215): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62870214 | A | ATATATCT others(187): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0087 a0001c0001t0025g0088 |
2 | 79 | 0.0253 | 194 | c.472 others(213): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535880 | G | GGTGGGGG others(187): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 a0001c0003t0001g0201 |
2 | 303 | 0.0066 | 194 | c.140 others(211): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56808281 | T | TATATAGT others(187): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 HG03688.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 a0001c0002t0001g0107 a0001c0002t0001g0166 others(2): Show |
5 | 369 | 0.0136 | 194 | c.489 others(211): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |