regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNMB2_chr3_178531436_178849429 | 178757997 | ATCTAGAT others(56): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 232 | 0.0043 | -63 | c.-67 others(82): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNN2_chr5_114357070_114501496 | 114379477 | TTTATAGA others(56): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01192.hp2 others(7): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0020a0002c0002others(3): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0069a0001c0001t0001g0229a0001c0001t0001g0230others(7): Show | 10 | 250 | 0.0400 | -63 | c.121 others(84): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KCNQ1_chr11_2440008_2854105 | 2552679 | TGATCCAC others(56): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02109.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0129a0001c0001t0004g0143a0001c0001t0005g0184 | 3 | 208 | 0.0144 | -63 | c.478 others(82): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135753014 | AGGGATGG others(56): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0082 | 1 | 272 | 0.0037 | -63 | c.435 others(78): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 4/30 | chr9 | TogoVar | ||||||
KCNU1_chr8_36779374_36941125 | 36939296 | AAGGGTCA others(56): Show |
A | downstream_gene_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0030 | 1 | 294 | 0.0034 | -63 | c.*33 others(74): Show |
KCNU1 | ENSG00000215262.8 | transcript | ENST00000399881.8 | protein_coding | 3172 | chr8 | TogoVar | ||||||
KIAA0232_chr4_6777727_6889164 | 6879814 | CATCTGCA others(56): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(42): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0183a0001c0001t0003g0010a0001c0001t0003g0060others(42): Show | 45 | 362 | 0.1243 | -63 | c.400 others(80): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 9/9 | chr4 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245682465 | CTGTATAT others(56): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 1 | 160 | 0.0063 | -63 | c.225 others(82): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KNDC1_chr10_133155219_133231412 | 133220624 | GGTGAGGA others(56): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0013 | a0013c0023 | a0013c0023t0004 | a0013c0023t0004g0306 | 1 | 332 | 0.0030 | -63 | c.501 others(80): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62307233 | AGGCCTGT others(56): Show |
A | downstream_gene_variant | MODIFIER | NA18612.hp2 | a0000 | a0000c0098 | a0000c0098t0001 | a0000c0098t0001g0124 | 1 | 186 | 0.0054 | -63 | c.*20 others(74): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 1831 | chr20 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 21007645 | GTGTGTGT others(56): Show |
G | intron_variant | MODIFIER | NA18951.hp2 NA18986.hp2 |
a0002a0003 | a0002c0017a0003c0005 | a0002c0017t0006a0003c0005t0015 | a0002c0017t0006g0004a0003c0005t0015g0005 | 2 | 316 | 0.0063 | -63 | c.343 others(82): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769168 | ACCCCCAT others(56): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(80): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(14): Show | 83 | 356 | 0.2332 | -63 | c.-47 others(74): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4651 | chr9 | TogoVar | ||||||
LEKR1_chr3_156821353_157051129 | 156911149 | TTTTGAGA others(56): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0012t0001 | a0001c0002t0001g0001a0001c0002t0001g0039a0001c0002t0001g0041others(3): Show | 7 | 244 | 0.0287 | -63 | c.264 others(80): Show |
LEKR1 | ENSG00000197980.14 | transcript | ENST00000356539.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202321990 | TCTCAGAC others(56): Show |
T | downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 262 | 0.0038 | -63 | c.*27 others(74): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 2230 | chr1 | TogoVar | ||||||
LHFPL2_chr5_78480230_78653772 | 78592670 | TACACACA others(56): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072a0001c0001t0008g0120a0001c0001t0008g0226others(2): Show | 5 | 254 | 0.0197 | -63 | c.-24 others(84): Show |
LHFPL2 | ENSG00000145685.14 | transcript | ENST00000380345.7 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
LIG1_chr19_48110445_48175344 | 48115647 | GCTTAGTA others(56): Show |
G | stop_lost others(1): Show |
HIGH | NA18985.hp1 | a0000 | a0000c0013 | a0000c0013t0007 | a0000c0013t0007g0182 | 1 | 330 | 0.0030 | -63 | c.269 others(70): Show |
p.Gln others(19): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 28/28 | 2922/3125 | 2699/2760 | 900/919 | chr19 | TogoVar | ||
LMAN2_chr5_177326567_177356668 | 177326879 | GAAAGAAA others(56): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0039a0001c0001t0002g0221others(1): Show | 4 | 376 | 0.0106 | -63 | c.*51 others(74): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4687 | chr5 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 950753 | GAGCCAAC others(56): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(16): Show |
a0001a0003a0012 | a0001c0001a0001c0005a0003c0009others(5): Show | a0001c0001t0002a0001c0005t0001a0003c0009t0001others(5): Show | a0001c0001t0002g0266a0001c0005t0001g0129a0001c0005t0001g0130others(16): Show | 19 | 294 | 0.0646 | -63 | c.503 others(80): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98140134 | CTTTCTTT others(56): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02738.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0134a0001c0001t0001g0139others(1): Show | 4 | 390 | 0.0103 | -63 | c.232 others(80): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LPP_chr3_188149157_188895671 | 188785428 | TATATTCC others(56): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01167.hp2 HG01175.hp1 others(17): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0018others(15): Show | a0001c0001t0001g0035a0001c0001t0001g0056a0001c0001t0017g0064others(17): Show | 20 | 76 | 0.2632 | -63 | c.141 others(84): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRRC24_chr8_144517388_144532033 | 144531654 | ACAGGGCA others(56): Show |
A | upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | -63 | c.-48 others(74): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4622 | chr8 | TogoVar | ||||||
LRRFIP1_chr2_237622587_237786643 | 237647663 | GGGTGGAG others(56): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(188): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(188): Show | 191 | 276 | 0.6920 | -63 | c.96+ others(80): Show |
LRRFIP1 | ENSG00000124831.20 | transcript | ENST00000308482.14 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LY6E_chr8_143013529_143027409 | 143015498 | GCCGTGTG others(56): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00735.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0002g0001others(2): Show | 22 | 377 | 0.0584 | -63 | c.-31 others(74): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3030 | chr8 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14072398 | GATCATGG others(56): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG03486.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0012a0001c0001t0001g0014a0002c0002t0007g0013 | 3 | 24 | 0.1250 | -63 | c.164 others(82): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MAD1L1_chr7_1810795_2237945 | 1861502 | GCCCCCTG others(56): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133 | 1 | 264 | 0.0038 | -63 | c.199 others(84): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1334061 | CCCCCATG others(56): Show |
C | intron_variant | MODIFIER | HG02004.hp1 HG02717.hp1 HG03540.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0156a0001c0001t0001g0332a0001c0001t0001g0346others(3): Show | 6 | 388 | 0.0155 | -63 | c.765 others(80): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAGED2_chrX_54802745_54821015 | 54816117 | TATTGTTG others(56): Show |
T | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0029 | 1 | 319 | 0.0031 | -63 | c.*24 others(72): Show |
MAGED2 | ENSG00000102316.17 | transcript | ENST00000375068.6 | protein_coding | 103 | chrX | TogoVar | ||||||
MAGI2_chr7_78012055_79458667 | 79324477 | TATATATA others(56): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0002others(6): Show | a0001c0001t0002g0020a0001c0001t0002g0029a0001c0002t0001g0024others(10): Show | 13 | 40 | 0.3250 | -63 | c.301 others(84): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19238456 | AATATATA others(56): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 |
a0019a0072 | a0019c0009a0072c0055 | a0019c0009t0002a0072c0055t0001 | a0019c0009t0002g0070a0072c0055t0001g0108 | 2 | 152 | 0.0132 | -63 | c.299 others(84): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MAP3K15_chrX_19355059_19520508 | 19452252 | AGAGAAGA others(56): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 163 | 0.0061 | -63 | c.995 others(80): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | ||||||
MAP3K1_chr5_56810549_56901152 | 56835331 | CAAGGAGG others(56): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0198 | 1 | 384 | 0.0026 | -63 | c.482 others(82): Show |
MAP3K1 | ENSG00000095015.6 | transcript | ENST00000399503.4 | protein_coding | 1/19 | chr5 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45904035 | TTATATAT others(56): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 HG02976.hp1 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0008others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0002g0053a0001c0001t0009g0034a0001c0001t0010g0052others(4): Show | 7 | 253 | 0.0277 | -63 | c.-18 others(80): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MAPT_chr17_45889554_46033334 | 45904258 | TATATTAT others(56): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp1 others(18): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0011a0003c0004t0015others(1): Show | a0003c0004t0004g0001a0003c0004t0004g0003a0003c0004t0004g0004others(18): Show | 21 | 253 | 0.0830 | -63 | c.-18 others(80): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MARCO_chr2_118937194_118999660 | 118986589 | GAAAGAAA others(56): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02818.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034a0002c0002t0001g0121a0002c0002t0001g0134others(7): Show | 10 | 394 | 0.0254 | -63 | c.106 others(82): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | chr2 | TogoVar | ||||||
MARVELD1_chr10_97708730_97723150 | 97721383 | TGGGATTG others(56): Show |
T | downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -63 | c.*57 others(74): Show |
MARVELD1 | ENSG00000155254.13 | transcript | ENST00000285605.8 | protein_coding | 3234 | chr10 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7035144 | TTATATAT others(56): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0020 | 1 | 262 | 0.0038 | -63 | c.*26 others(74): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2604 | chr19 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7036201 | TATAATGT others(56): Show |
T | downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0022 | 1 | 262 | 0.0038 | -63 | c.*15 others(74): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1547 | chr19 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113008919 | TGGGCGAG others(56): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02622.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0027 | a0001c0001t0023g0018a0001c0002t0027g0065 | 2 | 116 | 0.0172 | -63 | c.80- others(78): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCM6_chr2_135834626_135881443 | 135862268 | AAATAATA others(56): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02630.hp2 others(10): Show |
a0001a0006 | a0001c0002a0006c0009 | a0001c0002t0006a0001c0002t0007a0001c0002t0015others(2): Show | a0001c0002t0006g0044a0001c0002t0007g0093a0001c0002t0007g0096others(9): Show | 13 | 394 | 0.0330 | -63 | c.122 others(80): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 8/16 | chr2 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3493135 | GCAGGTGA others(56): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(18): Show |
a0004a0017a0020others(2): Show | a0004c0004a0004c0105a0017c0012others(4): Show | a0004c0004t0002a0004c0004t0007a0004c0004t0021others(6): Show | a0004c0004t0002g0023a0004c0004t0002g0097a0004c0004t0002g0103others(18): Show | 21 | 292 | 0.0719 | -63 | c.438 others(80): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 34/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3493276 | TTATCCTC others(56): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0058 | a0058c0112 | a0058c0112t0041 | a0058c0112t0041g0248 | 1 | 292 | 0.0034 | -63 | c.438 others(80): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 34/36 | chr1 | TogoVar | ||||||
METTL6_chr3_15404760_15432544 | 15431110 | AGCCAAGC others(56): Show |
A | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 406 | 0.0025 | -63 | c.-38 others(74): Show |
METTL6 | ENSG00000206562.12 | transcript | ENST00000383790.8 | protein_coding | 3567 | chr3 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876935 | TAGGGAGG others(56): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0011 | a0011c0017 | a0011c0017t0009 | a0011c0017t0009g0010 | 1 | 274 | 0.0037 | -63 | c.224 others(82): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877121 | GGTTATGG others(56): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0008 | 1 | 274 | 0.0037 | -63 | c.224 others(82): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877313 | TAGGGAGG others(56): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0011 | a0011c0017 | a0011c0017t0006 | a0011c0017t0006g0011 | 1 | 274 | 0.0037 | -63 | c.224 others(82): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43495734 | GTGGAGGT others(56): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 250 | 0.0040 | -63 | c.633 others(80): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MRPL23_chr11_1942332_1961600 | 1956376 | AGCGACCC others(56): Show |
A | stop_lost others(1): Show |
HIGH | NA19079.hp2 | a0000 | a0000c0006 | a0000c0006t0006 | a0000c0006t0006g0019 | 1 | 401 | 0.0025 | -63 | c.422 others(70): Show |
p.Asp others(19): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 5/5 | 453/673 | 422/462 | 141/153 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
MRPL45_chr17_38292168_38328211 | 38313310 | AAATATAT others(56): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014a0002c0002t0001g0229a0002c0002t0001g0230 | 4 | 287 | 0.0139 | -63 | c.462 others(80): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MRPL45_chr17_38292168_38328211 | 38313312 | ATATATAT others(56): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(46): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0033others(45): Show | 49 | 287 | 0.1707 | -63 | c.462 others(80): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
MTF1_chr1_37804574_37864592 | 37863577 | TACTCAGG others(56): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0115 | 1 | 376 | 0.0027 | -63 | c.-41 others(74): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 3986 | chr1 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767823 | CCACCACC others(56): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0086 | a0086c0185 | a0086c0185t0003 | a0086c0185t0003g0217 | 1 | 249 | 0.0040 | -63 | c.135 others(84): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar |