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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRBA_chr4_150259435_151020284 | 151011747 | TCACTGTA others(40): Show |
T | intron_variant | MODIFIER | NA19068.hp1 | a0022 | a0022c0030 | a0022c0030t0001 | a0022c0030t0001g0044 | 1 | 178 | 0.0056 | -47 | c.216 others(64): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 2/56 | chr4 | TogoVar | |||||||
LRPAP1_chr4_3498612_3537422 | 3511748 | GGACCCGA others(40): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0140 | a0001c0001t0140g0136 | 1 | 418 | 0.0024 | -47 | c.*11 others(58): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 1179 | chr4 | TogoVar | ||||||
LRRC4B_chr19_50511892_50573435 | 50533424 | GACCAAAG others(40): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01109.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0086 others(8): Show |
12 | 358 | 0.0335 | -47 | c.298 others(66): Show |
LRRC4B | ENSG00000131409.13 | transcript | ENST00000652263.1 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
LRRC4B_chr19_50511892_50573435 | 50533471 | TACCAAAG others(40): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0116 |
2 | 358 | 0.0056 | -47 | c.298 others(66): Show |
LRRC4B | ENSG00000131409.13 | transcript | ENST00000652263.1 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
LRRIQ1_chr12_85031351_85250105 | 85197963 | TATATAAA others(40): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG03017.hp2 NA20805.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 |
3 | 226 | 0.0133 | -47 | c.482 others(68): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 24/26 | chr12 | TogoVar | |||||||
LRRK1_chr15_100914357_101083257 | 101081737 | AGCACACA others(40): Show |
A | downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0001 | a0002c0001t0118 | a0002c0001t0118g0041 | 1 | 336 | 0.0030 | -47 | c.*12 others(60): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 3481 | chr15 | TogoVar | |||||||
LSM4_chr19_18301236_18328076 | 18314445 | TGAAACCA others(40): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 392 | 0.0026 | -47 | c.45+ others(62): Show |
LSM4 | ENSG00000130520.11 | transcript | ENST00000593829.6 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
LSM6_chr4_146170718_146196535 | 146172137 | CTTTCTTT others(40): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0001 | a0001c0001t0004g0011 a0001c0004t0001g0031 |
3 | 374 | 0.0080 | -47 | c.-36 others(58): Show |
LSM6 | ENSG00000164167.12 | transcript | ENST00000296581.11 | protein_coding | 3580 | chr4 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 187121 | GGGGAACA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 331 | 0.0030 | -47 | c.*20 others(58): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1868 | chr16 | TogoVar | |||||||
LYPLA1_chr8_54041367_54106947 | 54085780 | CCCCGGCC others(40): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01978.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 |
3 | 299 | 0.0100 | -47 | c.101 others(66): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
LZTS1_chr8_20241165_20308963 | 20307718 | TTTAAGTG others(40): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 404 | 0.0025 | -47 | c.-41 others(58): Show |
LZTS1 | ENSG00000061337.16 | transcript | ENST00000381569.5 | protein_coding | 3756 | chr8 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 16035146 | TATATAAA others(40): Show |
T | intron_variant | MODIFIER | HG02976.hp1 NA19030.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0002c0002t0001g0017 |
3 | 24 | 0.1250 | -47 | c.115 others(66): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1320157 | ATGCAAGA others(40): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(143): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(143): Show |
146 | 386 | 0.3782 | -47 | c.457 others(64): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP6_chr11_75581918_75674038 | 75666490 | GAACATGT others(40): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 388 | 0.0026 | -47 | c.905 others(62): Show |
MAP6 | ENSG00000171533.12 | transcript | ENST00000304771.8 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50265879 | ACCCAGCC others(40): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01891.hp1 HG02647.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0094 a0001c0001t0002g0023 a0001c0001t0002g0026 others(3): Show |
15 | 419 | 0.0358 | -47 | c.763 others(62): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
MAPK12_chr22_50247901_50266683 | 50265879 | ACCCAGCC others(40): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01891.hp2 HG02647.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0026 a0001c0001t0005g0060 a0001c0002t0001g0008 others(3): Show |
15 | 435 | 0.0345 | -47 | c.-44 others(58): Show |
MAPK12 | ENSG00000188130.14 | transcript | ENST00000215659.13 | protein_coding | 4197 | chr22 | TogoVar | |||||||
MAPK6_chr15_52014219_52072375 | 52062809 | CTGCTTCA others(40): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(1): Show | a0001c0001t0001g0297 a0001c0001t0002g0136 a0001c0001t0002g0137 others(3): Show |
6 | 354 | 0.0169 | -47 | c.106 others(65): Show |
MAPK6 | ENSG00000069956.14 | transcript | ENST00000261845.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MARS1_chr12_57483068_57521652 | 57507615 | CCCCCCAC others(40): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 286 | 0.0035 | -47 | c.136 others(66): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MARS1_chr12_57483068_57521652 | 57507663 | CCCCCCAC others(40): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0113 | 1 | 286 | 0.0035 | -47 | c.136 others(66): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MBD3L5_chr19_7025578_7038011 | 7034784 | TTTATATG others(40): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 248 | 0.0040 | -47 | c.*18 others(58): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 1774 | chr19 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113220039 | GAATCTGC others(40): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0004 | a0004c0053 | a0004c0053t0001 | a0004c0053t0001g0114 | 1 | 158 | 0.0063 | -47 | c.628 others(66): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169191719 | AAAAAGAA others(40): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0026 | a0001c0001t0007g0085 a0001c0001t0026g0072 |
2 | 113 | 0.0177 | -47 | c.376 others(66): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MEF2B_chr19_19140567_19175263 | 19147006 | CTCACCCC others(40): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA18989.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0236 | 1 | 401 | 0.0025 | -47 | c.524 others(57): Show |
p.Pro others(19): Show |
MEF2B | ENSG00000213999.17 | transcript | ENST00000424583.7 | protein_coding | 5/9 | 524/1107 | 175/368 | chr19 | TogoVar | ||||
MELTF_chr3_196996740_197034817 | 197000594 | GTGTGCCA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 416 | 0.0024 | -47 | c.*27 others(58): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 1145 | chr3 | TogoVar | |||||||
MELTF_chr3_196996740_197034817 | 197000641 | ATGTGCCA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(173): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(131): Show |
176 | 386 | 0.4560 | -47 | c.*26 others(58): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 1098 | chr3 | TogoVar | |||||||
METTL27_chr7_73829590_73847516 | 73836217 | GGGAGGGA others(40): Show |
G | intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 370 | 0.0027 | -47 | c.479 others(64): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
MFSD6_chr2_190403355_190507314 | 190430800 | CCCCCCCA others(40): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02083.hp2 HG02683.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0130 a0001c0001t0002g0129 a0001c0001t0002g0131 others(3): Show |
6 | 342 | 0.0175 | -47 | c.-53 others(64): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MGAT4C_chr12_85950667_86261391 | 86187523 | TTTTTAGA others(40): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0066 | 1 | 186 | 0.0054 | -47 | c.-57 others(66): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MGAT5_chr2_134249072_134459621 | 134381335 | ATAGATAG others(40): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0004 | 1 | 280 | 0.0036 | -47 | c.138 others(68): Show |
MGAT5 | ENSG00000152127.9 | transcript | ENST00000281923.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MIA2_chr14_39228915_39355694 | 39277715 | TGTGTGTA others(40): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0131 | 1 | 366 | 0.0027 | -47 | c.201 others(64): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 7/28 | chr14 | TogoVar | |||||||
MIB2_chr1_1610500_1635605 | 1627517 | GCCGGCGG others(40): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0125 | 1 | 410 | 0.0024 | -47 | c.152 others(63): Show |
MIB2 | ENSG00000197530.13 | transcript | ENST00000355826.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MMP16_chr8_88027011_88332483 | 88209622 | ACTGTATG others(40): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0014 others(147): Show |
150 | 184 | 0.8152 | -47 | c.133 others(66): Show |
MMP16 | ENSG00000156103.16 | transcript | ENST00000286614.11 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MMP23B_chr1_1627173_1639654 | 1627517 | GCCGGCGG others(40): Show |
G | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 430 | 0.0023 | -47 | c.-47 others(58): Show |
MMP23B | ENSG00000189409.14 | transcript | ENST00000356026.10 | protein_coding | 4655 | chr1 | TogoVar | |||||||
MNS1_chr15_56423724_56470137 | 56453942 | TTAGGACA others(40): Show |
T | intron_variant | MODIFIER | NA19059.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0105 | 1 | 412 | 0.0024 | -47 | c.353 others(64): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
MRPL41_chr9_137546879_137557555 | 137551686 | CCCGCGAG others(40): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | -47 | c.-30 others(56): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 192 | chr9 | TogoVar | |||||||
MRTFA_chr22_40405289_40641719 | 40450084 | TAGATAGG others(40): Show |
T | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 254 | 0.0039 | -47 | c.307 others(66): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 4/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40501322 | GAGGGCTG others(40): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0002t0001g0011 a0001c0003t0001g0007 a0001c0003t0001g0008 others(9): Show |
12 | 254 | 0.0472 | -47 | c.242 others(66): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MS4A1_chr11_60450847_60475752 | 60451551 | GGGGGGTC others(40): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014 | a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0007g0063 others(1): Show |
6 | 444 | 0.0135 | -47 | c.-46 others(58): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 4295 | chr11 | TogoVar | |||||||
MS4A5_chr11_60424572_60452792 | 60451551 | GGGGGGTC others(40): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02622.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0059 a0001c0001t0001g0217 a0003c0006t0001g0050 others(1): Show |
6 | 460 | 0.0130 | -47 | c.*37 others(58): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 3760 | chr11 | TogoVar | |||||||
MS4A7_chr11_60373532_60400948 | 60398421 | TTATGAGT others(40): Show |
T | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 1 | 412 | 0.0024 | -47 | c.*45 others(58): Show |
MS4A7 | ENSG00000166927.13 | transcript | ENST00000300184.8 | protein_coding | 2474 | chr11 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767658 | GGGGGAGC others(40): Show |
G | intron_variant | MODIFIER | HG03927.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0153 |
2 | 273 | 0.0073 | -47 | c.159 others(64): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 769177 | CCCCGGCC others(40): Show |
C | downstream_gene_variant | MODIFIER | NA18949.hp2 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0258 | 1 | 386 | 0.0026 | -47 | c.*44 others(56): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 316 | chr16 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16182047 | ACTGCTGC others(40): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 328 | 0.0030 | -47 | c.-4- others(62): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 150871031 | TTTATATA others(40): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 224 | 0.0045 | -47 | c.227 others(64): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTM1_chrX_150563621_150678143 | 150583515 | TATATATA others(40): Show |
T | intron_variant | MODIFIER | HG02886.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0139 a0001c0001t0005g0140 |
2 | 275 | 0.0073 | -47 | c.-10 others(64): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195782461 | GGGGTGGC others(40): Show |
G | frameshift_variant | HIGH | NA18955.hp1 | a0105 | a0105c0157 | a0105c0157t0003 | a0105c0157t0003g0212 | 1 | 248 | 0.0040 | -47 | c.907 others(56): Show |
p.Leu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9230/16756 | 9072/16239 | 3024/5412 | chr3 | TogoVar | |||
MUC5AC_chr11_1152953_1206138 | 1159785 | TCCCACCA others(40): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0034 | a0034c0120 | a0034c0120t0001 | a0034c0120t0001g0070 | 1 | 290 | 0.0034 | -47 | c.74- others(60): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961454 | GGGGGTTG others(40): Show |
G | downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 315 | 0.0032 | -47 | c.*12 others(58): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1207 | chr7 | TogoVar | |||||||
MYO3B_chr2_170173147_170660167 | 170649096 | GTATATTA others(40): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0170 | 1 | 148 | 0.0068 | -47 | c.373 others(66): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170649142 | AATATATT others(40): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 HG03471.hp2 others(1): Show |
a0001a0004a0006others(1): Show | a0001c0002a0004c0013a0006c0078others(1): Show | a0001c0002t0001a0004c0013t0001a0006c0078t0001others(1): Show | a0001c0002t0001g0142 a0004c0013t0001g0004 a0006c0078t0001g0111 others(1): Show |
4 | 162 | 0.0247 | -47 | c.373 others(66): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |