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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KHSRP_chr19_6408102_6429811 | 6429156 | A | ATATATAT others(92): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0025 | 2 | 379 | 0.0053 | 99 | c.-44 others(110): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4346 | chr19 | TogoVar | |||||||
KIAA1671_chr22_24947716_25202448 | 25068147 | T | TAGGGAGC others(92): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 |
a0002a0020 | a0002c0112a0020c0050 | a0002c0112t0041a0020c0050t0030 | a0002c0112t0041g0001 a0020c0050t0030g0033 |
2 | 241 | 0.0083 | 99 | c.453 others(120): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25071582 | C | CAAAGAAG others(92): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18962.hp1 NA18969.hp1 others(1): Show |
a0001a0004a0016 | a0001c0004a0001c0006a0004c0058others(1): Show | a0001c0004t0001a0001c0006t0038a0004c0058t0002others(1): Show | a0001c0004t0001g0036 a0001c0006t0038g0236 a0004c0058t0002g0108 others(1): Show |
4 | 229 | 0.0175 | 99 | c.453 others(120): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997284 | G | GGGGGCGG others(92): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 354 | 0.0028 | 99 | c.-21 others(110): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 386 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997508 | G | GGGGGGTC others(92): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 347 | 0.0029 | 99 | c.-19 others(110): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 162 | chr6 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(92): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0043 | 1 | 33 | 0.0303 | 99 | c.*34 others(110): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50956877 | G | GGCTTGTG others(92): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 314 | 0.0032 | 99 | c.*22 others(110): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 1753 | chr19 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507063 | G | GGGGGTAG others(92): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 203 | 0.0049 | 99 | c.624 others(116): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507229 | T | TCGGGGGG others(92): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18906.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0009 a0003c0003t0002g0012 |
2 | 258 | 0.0078 | 99 | c.624 others(116): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507332 | G | GGGATAGG others(92): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 250 | 0.0040 | 99 | c.624 others(116): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIG4_chr13_108202442_108220536 | 108215427 | C | CCTCCCAA others(92): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0012 a0001c0004t0004g0021 |
6 | 7 | 0.8571 | 99 | c.-10 others(114): Show |
LIG4 | ENSG00000174405.15 | transcript | ENST00000442234.6 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
LIN28B_chr6_104952107_105088332 | 105023628 | T | TTTATATA others(92): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0170 a0001c0001t0006g0169 a0001c0001t0006g0171 |
3 | 205 | 0.0146 | 99 | c.199 others(116): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LIN54_chr4_82919603_83015823 | 83001857 | A | AAAGGAAA others(92): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0179 | 1 | 286 | 0.0035 | 99 | c.-33 others(116): Show |
LIN54 | ENSG00000189308.11 | transcript | ENST00000340417.8 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(92): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 252 | 0.0040 | 99 | c.-41 others(110): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3971 | chr11 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(92): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 252 | 0.0040 | 99 | c.-41 others(110): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3971 | chr11 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(92): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 229 | 0.0044 | 99 | c.-41 others(110): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | |||||||
LOC122319696_chrX_149409877_149420506 | 149418486 | C | CATATATA others(92): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0032 | 99 | c.-30 others(110): Show |
LOC122319696 | ENSG00000287585.2 | transcript | ENST00000653668.2 | protein_coding | 2981 | chrX | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11494117 | G | GGGGGCGG others(92): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0231 | a0231c0045 | a0231c0045t0004 | a0231c0045t0004g0164 | 1 | 260 | 0.0038 | 99 | c.143 others(116): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150658505 | G | GTCTCCTC others(92): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102 a0001c0001t0002g0094 |
2 | 74 | 0.0270 | 99 | c.592 others(120): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150660238 | C | CGTCCGGG others(92): Show |
intron_variant | MODIFIER | HG00738.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0068 |
2 | 62 | 0.0323 | 99 | c.592 others(120): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150660238 | C | CGTCCGGG others(92): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02074.hp1 HG02135.hp1 others(3): Show |
a0001a0011 | a0001c0001a0011c0031 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0106 a0001c0001t0002g0005 others(3): Show |
6 | 66 | 0.0909 | 99 | c.592 others(120): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150660238 | C | CGTCCGGG others(92): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18984.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0067 a0001c0005t0002g0162 |
2 | 62 | 0.0323 | 99 | c.592 others(120): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150660238 | C | CGTCCGGG others(92): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02132.hp2 NA18950.hp2 |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0009 | a0001c0001t0002a0002c0003t0002a0009c0009t0001 | a0001c0001t0002g0079 a0002c0003t0002g0140 a0009c0009t0001g0007 |
3 | 63 | 0.0476 | 99 | c.592 others(120): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRMDA_chr10_75426624_76565168 | 75672589 | C | CCCTTCCC others(92): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 23 | 0.0435 | 99 | c.131 others(120): Show |
LRMDA | ENSG00000148655.16 | transcript | ENST00000611255.5 | protein_coding | 2/6 | chr10 | TogoVar | |||||||
LRP1B_chr2_140226423_142136016 | 140228178 | A | AAATATAT others(92): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0007 | 1 | 28 | 0.0357 | 99 | c.*50 others(110): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 3244 | chr2 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283860 | T | TACTTACT others(92): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0126 | 1 | 294 | 0.0034 | 99 | c.368 others(116): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909396 | T | TATATAAT others(92): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 228 | 0.0044 | 99 | c.622 others(114): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRIQ1_chr12_85031351_85250105 | 85192713 | T | TTATAAAT others(92): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 185 | 0.0054 | 99 | c.482 others(120): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 100962821 | A | ACACATAT others(92): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0015 | a0015c0043 | a0015c0043t0131 | a0015c0043t0131g0152 | 1 | 133 | 0.0075 | 99 | c.98- others(116): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 2/33 | chr15 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 14862125 | A | ATAAATAT others(92): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 | 1 | 10 | 0.1000 | 99 | c.418 others(120): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | chr20 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 14862125 | A | ATCAATAT others(92): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 10 | 0.1000 | 99 | c.418 others(120): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | chr20 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1827644 | G | GCCTCCCC others(92): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 260 | 0.0038 | 99 | c.199 others(120): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1827735 | C | CTGTGGGG others(92): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0006t0001 | a0001c0001t0001g0223 a0001c0001t0001g0246 a0001c0001t0005g0136 others(1): Show |
4 | 95 | 0.0421 | 99 | c.199 others(120): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1827776 | T | TCCTCCCC others(92): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0158 | 1 | 222 | 0.0045 | 99 | c.199 others(120): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1330323 | T | TCTCTCTC others(92): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 333 | 0.0030 | 99 | c.657 others(116): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1333821 | A | ACCCCCAT others(92): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 314 | 0.0032 | 99 | c.765 others(114): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MALL_chr2_110078870_110120822 | 110115479 | T | TCTCGGTC others(92): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 195 | 0.0051 | 99 | c.105 others(114): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MALL_chr2_110078870_110120822 | 110115535 | T | TCCCCCCC others(92): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01261.hp2 HG02056.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0007 | a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 others(6): Show |
9 | 322 | 0.0280 | 99 | c.105 others(114): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19315161 | G | GTAAATAT others(92): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0109 | 1 | 147 | 0.0068 | 99 | c.342 others(118): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19315547 | A | AATATAAA others(92): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0019 | a0019c0065 | a0019c0065t0001 | a0019c0065t0001g0079 | 1 | 140 | 0.0071 | 99 | c.342 others(118): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6611558 | A | ATCTTTTC others(92): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02630.hp1 |
a0003a0014 | a0003c0007a0014c0052 | a0003c0007t0012a0014c0052t0002 | a0003c0007t0012g0070 a0014c0052t0002g0248 |
2 | 353 | 0.0057 | 99 | c.256 others(116): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAS1_chr6_159885988_159922447 | 159898616 | T | TCCTCCTC others(92): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0057 | a0001c0001t0012g0049 a0001c0001t0057g0057 |
2 | 4 | 0.5000 | 99 | c.-24 others(116): Show |
MAS1 | ENSG00000130368.7 | transcript | ENST00000674077.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MAS1_chr6_159885988_159922447 | 159898625 | T | TCCCTCTT others(92): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0030 | 2 | 346 | 0.0058 | 99 | c.-24 others(116): Show |
MAS1 | ENSG00000130368.7 | transcript | ENST00000674077.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192921766 | A | AAAAAAAA others(92): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 296 | 0.0034 | 99 | c.-39 others(110): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 3911 | chr3 | TogoVar | |||||||
MCCC1_chr3_183010218_183104496 | 183017819 | T | TACTGGTC others(92): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(122): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0001a0001c0009t0001a0001c0011t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0042 others(120): Show |
125 | 151 | 0.8278 | 99 | c.197 others(116): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 17/18 | chr3 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113106109 | G | GTTCACTA others(92): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02809.hp1 others(4): Show |
a0001a0003 | a0001c0024a0001c0045a0001c0050others(3): Show | a0001c0024t0009a0001c0045t0027a0001c0050t0005others(3): Show | a0001c0024t0009g0045 a0001c0024t0009g0056 a0001c0045t0027g0061 others(4): Show |
7 | 47 | 0.1489 | 99 | c.102 others(118): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
MCUB_chr4_109555246_109693719 | 109597365 | A | ACCCCCCC others(92): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 a0001c0001t0003g0088 a0001c0001t0003g0089 |
3 | 333 | 0.0090 | 99 | c.99+ others(116): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109597453 | C | CGGGGGGC others(92): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00738.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0111 a0002c0002t0002g0117 a0002c0002t0002g0136 others(4): Show |
7 | 264 | 0.0265 | 99 | c.99+ others(116): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109597453 | C | CGGGGGGC others(92): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0140 | 1 | 258 | 0.0039 | 99 | c.99+ others(116): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142067986 | A | ATATATAT others(92): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 154 | 0.0065 | 99 | c.500 others(116): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 42/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |