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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LHFPL3_chr7_104323603_104913561 | 104833309 | GATATATA others(49): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 86 | 0.0116 | -56 | c.683 others(75): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LIM2_chr19_51374909_51392974 | 51384377 | GCCAAGAT others(49): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 438 | 0.0023 | -56 | c.176 others(73): Show |
LIM2 | ENSG00000105370.8 | transcript | ENST00000596399.2 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
LIPI_chr21_14103813_14215955 | 14161766 | TTATATAT others(49): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG02109.hp2 others(7): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0003a0005c0004others(3): Show | a0001c0001t0001a0004c0003t0001a0005c0004t0002others(3): Show | a0001c0001t0001g0045 a0004c0003t0001g0113 a0005c0004t0002g0104 others(7): Show |
10 | 362 | 0.0276 | -56 | c.100 others(75): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 7/9 | chr21 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326833 | GAAAGAAA others(49): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 376 | 0.0027 | -56 | c.*51 others(67): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4733 | chr5 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326837 | GAAAGAAA others(49): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03471.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0003 | a0001c0001t0001g0191 a0001c0001t0003g0215 a0001c0008t0003g0244 |
3 | 376 | 0.0080 | -56 | c.*51 others(67): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4729 | chr5 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326841 | GAAAGAAA others(49): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02723.hp1 NA18522.hp2 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0187 a0001c0001t0001g0228 a0004c0003t0001g0041 |
3 | 376 | 0.0080 | -56 | c.*51 others(67): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4725 | chr5 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326845 | GAAAGAAA others(49): Show |
G | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02004.hp2 HG03688.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0032 a0001c0001t0001g0176 a0001c0001t0001g0179 others(4): Show |
7 | 376 | 0.0186 | -56 | c.*51 others(67): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4721 | chr5 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326849 | GAAAGAAA others(49): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 376 | 0.0027 | -56 | c.*51 others(67): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4717 | chr5 | TogoVar | |||||||
LNP1_chr3_100396539_100461319 | 100458036 | GGGATTAT others(49): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0233 | 1 | 398 | 0.0025 | -56 | c.*21 others(67): Show |
LNP1 | ENSG00000206535.8 | transcript | ENST00000383693.8 | protein_coding | 1718 | chr3 | TogoVar | |||||||
LOC122539214_chr19_52645447_52695496 | 52670101 | ACTCATTC others(49): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0007 | a0007c0006 | a0007c0006t0040 | a0007c0006t0040g0415 | 1 | 452 | 0.0022 | -56 | c.-19 others(73): Show |
LOC122539214 | ENSG00000269825.3 | transcript | ENST00000598322.3 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
LONP1_chr19_5686834_5725146 | 5709838 | GGAGGTGG others(49): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 a0001c0001t0001g0356 |
2 | 386 | 0.0052 | -56 | c.871 others(73): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 4/17 | chr19 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1465009 | ACACACAC others(49): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 386 | 0.0026 | -56 | c.142 others(75): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 13/13 | chr5 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188178994 | AAGAGAGA others(49): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0008 | a0002c0008t0027 | a0002c0008t0027g0042 | 1 | 76 | 0.0132 | -56 | c.-19 others(77): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188784376 | CATATATA others(49): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03139.hp2 |
a0002a0003 | a0002c0003a0003c0009 | a0002c0003t0053a0003c0009t0015 | a0002c0003t0053g0010 a0003c0009t0015g0066 |
2 | 76 | 0.0263 | -56 | c.141 others(77): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150639753 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03453.hp1 NA18959.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0017 | a0001c0001t0002a0001c0001t0004a0001c0005t0001others(1): Show | a0001c0001t0002g0018 a0001c0001t0004g0065 a0001c0001t0004g0104 others(2): Show |
5 | 180 | 0.0278 | -56 | c.592 others(77): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRFN1_chr19_39301566_39325863 | 39324042 | GTCTCGAA others(49): Show |
G | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 278 | 0.0036 | -56 | c.-34 others(67): Show |
LRFN1 | ENSG00000128011.5 | transcript | ENST00000248668.5 | protein_coding | 3180 | chr19 | TogoVar | |||||||
LRP12_chr8_104484236_104594258 | 104547351 | ATATTTTG others(49): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0009 | 1 | 318 | 0.0031 | -56 | c.80- others(73): Show |
LRP12 | ENSG00000147650.12 | transcript | ENST00000276654.10 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
LRP12_chr8_104484236_104594258 | 104547469 | ATTTTGTA others(49): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG03041.hp1 |
a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0017 a0002c0004t0012g0018 a0002c0004t0012g0019 |
3 | 318 | 0.0094 | -56 | c.80- others(73): Show |
LRP12 | ENSG00000147650.12 | transcript | ENST00000276654.10 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
LRP1B_chr2_140226423_142136016 | 140748778 | GTATATAA others(49): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp2 NA18522.hp2 |
a0001 | a0001c0002a0001c0008a0001c0024 | a0001c0002t0010a0001c0008t0001a0001c0024t0005 | a0001c0002t0010g0022 a0001c0008t0001g0008 a0001c0024t0005g0009 |
3 | 28 | 0.1071 | -56 | c.575 others(77): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 35/90 | chr2 | TogoVar | |||||||
LRP2_chr2_169122109_169367534 | 169299070 | GGAAAGAA others(49): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0011 | a0011c0142 | a0011c0142t0006 | a0011c0142t0006g0026 | 1 | 250 | 0.0040 | -56 | c.428 others(73): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 4/78 | chr2 | TogoVar | |||||||
LRPPRC_chr2_43881224_44000989 | 43918783 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0005 | a0003c0005t0062 | a0003c0005t0062g0349 | 1 | 358 | 0.0028 | -56 | c.289 others(73): Show |
LRPPRC | ENSG00000138095.20 | transcript | ENST00000260665.12 | protein_coding | 27/37 | chr2 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69717790 | GAAAGAAA others(49): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0011t0088 | a0001c0001t0005g0108 a0001c0011t0088g0091 |
2 | 108 | 0.0185 | -56 | c.100 others(75): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69717797 | AGAAAGAA others(49): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0011 | 1 | 108 | 0.0093 | -56 | c.100 others(75): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC9_chr14_59915144_60071817 | 59975095 | ATATATAC others(49): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(46): Show |
a0001a0004a0009 | a0001c0001a0001c0005a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0044 a0001c0001t0001g0085 a0001c0001t0001g0224 others(46): Show |
49 | 322 | 0.1522 | -56 | c.163 others(73): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRSAM1_chr9_127446510_127508499 | 127464362 | TGACCGTG others(49): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0005t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(73): Show |
78 | 340 | 0.2294 | -56 | c.528 others(73): Show |
LRSAM1 | ENSG00000148356.15 | transcript | ENST00000300417.11 | protein_coding | 9/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LSAMP_chr3_115797374_116450487 | 115861091 | CTCTCTCC others(49): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0076 | 1 | 104 | 0.0096 | -56 | c.515 others(73): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
LSG1_chr3_194635791_194677191 | 194645515 | CACACACA others(49): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0006 | a0002c0006t0063 | a0002c0006t0063g0065 | 1 | 408 | 0.0025 | -56 | c.162 others(73): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LSG1_chr3_194635791_194677191 | 194645519 | CACACACA others(49): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01123.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0068a0003c0004t0027 | a0001c0001t0068g0285 a0003c0004t0027g0055 |
2 | 408 | 0.0049 | -56 | c.162 others(73): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
LSG1_chr3_194635791_194677191 | 194663356 | CCCTTTCC others(49): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01358.hp1 HG01496.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001a0002c0002t0007 | a0001c0001t0009g0098 a0002c0002t0001g0021 a0002c0002t0001g0022 others(6): Show |
9 | 408 | 0.0221 | -56 | c.521 others(73): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
LY6H_chr8_143152916_143165321 | 143157523 | GGTGTGTG others(49): Show |
G | downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 443 | 0.0023 | -56 | c.*67 others(65): Show |
LY6H | ENSG00000176956.13 | transcript | ENST00000342752.9 | protein_coding | 392 | chr8 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248744491 | ATCAAATG others(49): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG02647.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0032 a0001c0001t0001g0124 a0001c0001t0001g0145 others(8): Show |
12 | 374 | 0.0321 | -56 | c.475 others(71): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248744574 | CGTCAAAT others(49): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0045 others(9): Show |
12 | 374 | 0.0321 | -56 | c.475 others(71): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5135113 | GCTCCCGG others(49): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 286 | 0.0035 | -56 | c.208 others(75): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5135426 | CGGGGCTG others(49): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01069.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0004others(3): Show | a0001c0001t0002g0062 a0001c0001t0004g0041 a0001c0001t0004g0046 others(44): Show |
47 | 286 | 0.1643 | -56 | c.208 others(75): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
MAP2K5_chr15_67537703_67812114 | 67771120 | AACACATG others(49): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(268): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0068 others(268): Show |
271 | 278 | 0.9748 | -56 | c.119 others(75): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP3K12_chr12_53474669_53504458 | 53498908 | CTGTGTGT others(49): Show |
C | intron_variant | MODIFIER | NA18971.hp2 NA19062.hp2 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0048 a0001c0001t0003g0045 a0001c0001t0003g0046 others(1): Show |
4 | 328 | 0.0122 | -56 | c.-38 others(71): Show |
MAP3K12 | ENSG00000139625.13 | transcript | ENST00000547488.6 | protein_coding | 1/13 | chr12 | TogoVar | |||||||
MAP7D2_chrX_20001713_20121907 | 20094513 | TATGTATA others(49): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02451.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0176 a0002c0005t0001g0122 a0002c0005t0001g0123 |
3 | 210 | 0.0143 | -56 | c.130 others(75): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 1/16 | chrX | TogoVar | |||||||
MAPK8IP3_chr16_1701195_1775351 | 1728625 | ACACAGCA others(49): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 330 | 0.0030 | -56 | c.440 others(71): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MAPK8IP3_chr16_1701195_1775351 | 1728869 | CAGACGGC others(49): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 330 | 0.0030 | -56 | c.440 others(71): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MARCHF11_chr5_16062139_16184791 | 16166956 | GTACAACG others(49): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 298 | 0.0034 | -56 | c.693 others(75): Show |
MARCHF11 | ENSG00000183654.9 | transcript | ENST00000332432.9 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164346596 | GTATGTAT others(49): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01071.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0076 others(22): Show |
25 | 102 | 0.2451 | -56 | c.-32 others(77): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCO_chr2_118937194_118999660 | 118986616 | AGAAAGAA others(49): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 others(10): Show |
18 | 394 | 0.0457 | -56 | c.106 others(75): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(49): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 298 | 0.0034 | -56 | c.212 others(75): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51197041 | GATATATA others(49): Show |
G | intron_variant | MODIFIER | HG02148.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0062 | a0001c0001t0020g0049 a0001c0001t0062g0105 |
2 | 340 | 0.0059 | -56 | c.122 others(75): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84050654 | GCATGTGG others(49): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0189 | 1 | 424 | 0.0024 | -56 | c.*37 others(67): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 3108 | chr16 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051106 | CCGCATGT others(49): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp2 HG02622.hp2 NA18968.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0015a0001c0004t0002others(2): Show | a0001c0001t0002g0127 a0001c0002t0015g0259 a0001c0004t0002g0150 others(3): Show |
6 | 424 | 0.0142 | -56 | c.*32 others(67): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2656 | chr16 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183206931 | AAGGAAGG others(49): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG02280.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0003 | a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0047 others(3): Show |
6 | 176 | 0.0341 | -56 | c.271 others(73): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
MCM3AP_chr21_46230133_46290611 | 46263785 | AAAAAAAA others(49): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0324 | 1 | 360 | 0.0028 | -56 | c.333 others(73): Show |
MCM3AP | ENSG00000160294.11 | transcript | ENST00000291688.6 | protein_coding | 13/27 | chr21 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94243028 | TACACATA others(49): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 276 | 0.0036 | -56 | c.-66 others(75): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94243034 | TACACGTG others(49): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(78): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0069 others(78): Show |
81 | 276 | 0.2935 | -56 | c.-66 others(75): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | chr15 | TogoVar |