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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IRF4_chr6_386752_416443 | 396559 | TTATCTCA others(97): Show |
T | intron_variant | MODIFIER | NA18945.hp2 NA18994.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0048 | 2 | 455 | 0.0044 | -104 | c.493 others(15): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IRF4_chr6_386752_416443 | 396691 | CCCCCGTC others(97): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(1): Show | a0001c0001t0002g0029 a0001c0001t0002g0209 a0001c0001t0002g0211 others(3): Show |
7 | 254 | 0.0276 | -104 | c.493 others(15): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79270282 | TATAAAAT others(97): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG02698.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0050 | a0002c0002t0002g0120 a0002c0002t0050g0121 |
2 | 340 | 0.0059 | -104 | c.103 others(19): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21714985 | TTTTATTT others(97): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056 a0001c0002t0001g0040 |
2 | 80 | 0.0250 | -104 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21757159 | GAAAGAAA others(97): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0024 others(14): Show |
17 | 80 | 0.2125 | -104 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50025354 | AGCAGCAC others(97): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | -104 | c.*49 others(11): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 4433 | chr13 | TogoVar | |||||||
KIF26A_chr14_104133587_104185894 | 104165559 | GTGTGTTT others(97): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01981.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0295 a0001c0001t0004g0116 a0001c0001t0013g0290 others(1): Show |
4 | 372 | 0.0108 | -104 | c.924 others(17): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF4A_chrX_70285104_70425886 | 70373614 | GTATATAT others(97): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp2 others(72): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0001a0001c0002t0001a0005c0011t0001 | a0001c0001t0001g0048 a0001c0001t0001g0083 a0001c0001t0001g0084 others(72): Show |
75 | 252 | 0.2976 | -104 | c.167 others(17): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KIF4A_chrX_70285104_70425886 | 70373623 | TACGTATA others(97): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 257 | 0.0039 | -104 | c.167 others(17): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | chrX | TogoVar | |||||||
KRIT1_chr7_92194413_92250914 | 92250726 | ATTATCAT others(97): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 358 | 0.0028 | -104 | c.-54 others(11): Show |
KRIT1 | ENSG00000001631.17 | transcript | ENST00000394505.7 | protein_coding | 4813 | chr7 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62317390 | TCGGCGGC others(97): Show |
T | frameshift_variant | HIGH | HG02647.hp2 | a0069 | a0069c0073 | a0069c0073t0001 | a0069c0073t0001g0014 | 1 | 184 | 0.0054 | -104 | c.736 others(9): Show |
p.Glu others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 55/80 | 7532/11426 | 7362/11088 | 2454/3695 | chr20 | TogoVar | |||
LAT2_chr7_74205006_74234834 | 74214519 | TATATAAA others(97): Show |
T | intron_variant | MODIFIER | NA18944.hp1 NA19066.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0198 |
3 | 340 | 0.0088 | -104 | c.-21 others(17): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198003937 | CCATCTAT others(97): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 HG02486.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0012a0001c0001t0016others(6): Show | a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0126 others(12): Show |
15 | 249 | 0.0602 | -104 | c.131 others(18): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198004041 | ACATCTAT others(97): Show |
A | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 137 | 0.0073 | -104 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198004921 | ACATCTAT others(97): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0022others(3): Show | a0001c0001t0001g0192 a0001c0001t0005g0103 a0001c0001t0005g0104 others(7): Show |
10 | 244 | 0.0410 | -104 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198005025 | CCATCTAT others(97): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01175.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0002c0002t0002others(6): Show | a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0012g0093 others(15): Show |
18 | 197 | 0.0914 | -104 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMNB2_chr19_2423166_2461959 | 2432805 | AGCCCCGT others(97): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01361.hp2 HG01515.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0269 a0001c0001t0005g0031 a0001c0001t0005g0183 others(14): Show |
21 | 354 | 0.0593 | -104 | c.148 others(17): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
LMOD1_chr1_201891456_201951548 | 201924395 | AGGAAGGA others(97): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(48): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0030 others(46): Show |
51 | 398 | 0.1281 | -104 | c.261 others(19): Show |
LMOD1 | ENSG00000163431.14 | transcript | ENST00000367288.5 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1459314 | AAGCCTCA others(97): Show |
A | downstream_gene_variant | MODIFIER | NA18964.hp2 NA18970.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0018 | a0001c0001t0020a0001c0004t0010a0001c0018t0010 | a0001c0001t0020g0305 a0001c0004t0010g0001 a0001c0004t0010g0176 others(1): Show |
6 | 384 | 0.0156 | -104 | c.*42 others(11): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 2112 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1459378 | GAGCACGT others(97): Show |
G | downstream_gene_variant | MODIFIER | HG02723.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0143 a0001c0002t0004g0271 |
2 | 384 | 0.0052 | -104 | c.*41 others(11): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 2048 | chr5 | TogoVar | |||||||
LRGUK_chr7_134122340_134269595 | 134231580 | CTCCCTCC others(97): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01952.hp1 HG01993.hp2 others(31): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(3): Show | a0001c0001t0001g0135 a0001c0001t0004g0211 a0001c0001t0004g0212 others(31): Show |
34 | 103 | 0.3301 | -104 | c.198 others(19): Show |
LRGUK | ENSG00000155530.4 | transcript | ENST00000285928.3 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68390630 | CGTGGACG others(97): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 210 | 0.0048 | -104 | c.158 others(17): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132352446 | GCTCCGTG others(97): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG03540.hp1 NA19043.hp1 |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0002a0007c0016t0002 | a0001c0001t0002g0180 a0001c0001t0002g0195 a0007c0016t0002g0187 |
3 | 276 | 0.0109 | -104 | c.107 others(17): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC36_chr16_67321815_67390204 | 67341002 | AATATGTA others(97): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 192 | 0.0052 | -104 | c.71- others(13): Show |
LRRC36 | ENSG00000159708.18 | transcript | ENST00000329956.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LYNX1_chr8_142766202_142782202 | 142777431 | CCCCGCCT others(97): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0049 others(18): Show |
106 | 379 | 0.2797 | -104 | c.-59 others(9): Show |
LYNX1 | ENSG00000180155.20 | transcript | ENST00000652477.1 | protein_coding | 230 | chr8 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248742810 | CCAGGGAG others(97): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 372 | 0.0027 | -104 | c.475 others(17): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77036406 | GGACTGAG others(97): Show |
G | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 394 | 0.0025 | -104 | c.140 others(19): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MC2R_chr18_13877044_13920536 | 13887124 | CGGGGAAG others(97): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 HG03486.hp2 |
a0003 | a0003c0003 | a0003c0003t0024 | a0003c0003t0024g0216 a0003c0003t0024g0217 a0003c0003t0024g0218 |
3 | 408 | 0.0074 | -104 | c.-12 others(19): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94242928 | TATACACG others(97): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01358.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(7): Show | a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0002g0068 others(10): Show |
13 | 274 | 0.0474 | -104 | c.-66 others(19): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
METTL16_chr17_2411049_2516888 | 2435633 | TTGGGAGT others(97): Show |
T | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0236 | 1 | 296 | 0.0034 | -104 | c.888 others(17): Show |
METTL16 | ENSG00000127804.13 | transcript | ENST00000263092.11 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50488779 | ATCCCTCC others(97): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0026 a0001c0002t0002g0031 a0001c0002t0002g0032 |
4 | 432 | 0.0093 | -104 | c.409 others(15): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543115 | TACAGTGG others(97): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00673.hp1 others(31): Show |
a0001a0004a0011others(3): Show | a0001c0001a0001c0048a0004c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0036 others(30): Show |
34 | 205 | 0.1659 | -104 | c.153 others(17): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543391 | GAACAGTG others(97): Show |
G | intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0049 | a0002c0049t0002 | a0002c0049t0002g0063 | 1 | 279 | 0.0036 | -104 | c.153 others(17): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543750 | TGGGCACG others(97): Show |
T | intron_variant | MODIFIER | NA19090.hp2 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0035 | 1 | 248 | 0.0040 | -104 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543924 | GGGACAGT others(97): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0088 | 1 | 281 | 0.0036 | -104 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYOC_chr1_171630417_171657688 | 171653858 | TTTGAGCA others(97): Show |
T | upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 432 | 0.0023 | -104 | c.-13 others(11): Show |
MYOC | ENSG00000034971.17 | transcript | ENST00000037502.11 | protein_coding | 1171 | chr1 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2081256 | GTGTAGAA others(97): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp1 HG02809.hp1 others(5): Show |
a0001a0010a0013others(3): Show | a0001c0022a0010c0199a0013c0184others(3): Show | a0001c0022t0001a0010c0199t0001a0013c0184t0001others(3): Show | a0001c0022t0001g0073 a0001c0022t0001g0083 a0001c0022t0001g0393 others(5): Show |
8 | 402 | 0.0199 | -104 | c.151 others(19): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085515 | GCCCCCCA others(97): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0041 | a0002c0041t0001 | a0002c0041t0001g0084 | 1 | 382 | 0.0026 | -104 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085833 | CCCACTGT others(97): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 |
a0008a0009 | a0008c0008a0009c0012 | a0008c0008t0001a0009c0012t0002 | a0008c0008t0001g0111 a0009c0012t0002g0306 |
2 | 398 | 0.0050 | -104 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085836 | ACTGTCGT others(97): Show |
A | intron_variant | MODIFIER | HG02523.hp1 NA18971.hp2 |
a0003a0058 | a0003c0004a0058c0161 | a0003c0004t0002a0058c0161t0001 | a0003c0004t0002g0237 a0058c0161t0001g0134 |
2 | 398 | 0.0050 | -104 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2034607 | ACAATCTC others(97): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp1 HG02165.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0002t0002g0022 others(4): Show |
7 | 102 | 0.0686 | -104 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
NAPSA_chr19_50353477_50370639 | 50366384 | GCCACTGC others(97): Show |
G | upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 348 | 0.0029 | -104 | c.-86 others(9): Show |
NAPSA | ENSG00000131400.9 | transcript | ENST00000253719.7 | protein_coding | 746 | chr19 | TogoVar | |||||||
NCKAP5_chr2_132666788_133573463 | 133526193 | AAGGAAGG others(97): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0056 | 1 | 70 | 0.0143 | -104 | c.-61 others(17): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805903 | TCCCCCCT others(97): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02132.hp1 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0128 a0001c0001t0003g0094 a0001c0001t0005g0017 others(3): Show |
6 | 291 | 0.0206 | -104 | c.-33 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3289 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805942 | TCCCCCCT others(97): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp2 NA19000.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0006 a0001c0004t0001g0015 |
2 | 293 | 0.0068 | -104 | c.-33 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3250 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806163 | CCTCAGCC others(97): Show |
C | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029 | 1 | 313 | 0.0032 | -104 | c.-31 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3029 | chr2 | TogoVar | |||||||
NLRP4_chr19_55831540_55886855 | 55862160 | GTAAGTCT others(97): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(82): Show |
a0001a0002a0015 | a0001c0001a0001c0006a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0030 others(80): Show |
85 | 422 | 0.2014 | -104 | c.218 others(16): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535457 | GGGTAGGC others(97): Show |
G | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0018 | a0001c0018t0008 | a0001c0018t0008g0027 | 1 | 322 | 0.0031 | -104 | c.140 others(17): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPIPB5_chr16_22505891_22541535 | 22534711 | CTTCCACC others(97): Show |
C | frameshift_variant | HIGH | HG02155.hp1 | a0017 | a0017c0018 | a0017c0018t0009 | a0017c0018t0009g0002 | 1 | 46 | 0.0217 | -104 | c.172 others(9): Show |
p.Phe others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | chr16 | TogoVar | |||
NTM_chr11_131365615_132341822 | 132071055 | CACTGACC others(97): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01884.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0074 a0001c0001t0002g0022 a0001c0001t0003g0032 others(5): Show |
8 | 84 | 0.0952 | -104 | c.168 others(19): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |