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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MARCHF1_chr4_163519718_164389019 | 163836214 | AATTTATT others(17): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 102 | 0.0098 | -24 | c.111 others(43): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 164176966 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0067 | 1 | 102 | 0.0098 | -24 | c.-32 others(45): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 164346604 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG02165.hp1 HG02735.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0006g0059a0001c0001t0009g0033a0001c0001t0010g0063others(3): Show | 6 | 102 | 0.0588 | -24 | c.-32 others(45): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
MARCHF3_chr5_126862714_127035558 | 127008880 | AATTTATT others(17): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 296 | 0.0034 | -24 | c.-57 others(43): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
MARCHF4_chr2_216252865_216377483 | 216320607 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG02004.hp1 HG03017.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0016 | a0001c0001t0005g0097a0001c0001t0005g0125a0001c0002t0016g0096 | 3 | 330 | 0.0091 | -24 | c.517 others(43): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
MARCHF4_chr2_216252865_216377483 | 216354891 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG02132.hp1 NA18947.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0021others(5): Show | a0001c0001t0001g0065a0001c0001t0012g0066a0001c0001t0021g0045others(6): Show | 9 | 330 | 0.0273 | -24 | c.516 others(43): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
MARCHF5_chr10_92286167_92358964 | 92331929 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 306 | 0.0033 | -24 | c.239 others(41): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MARCHF5_chr10_92286167_92358964 | 92347463 | CAGATAGA others(17): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0029 | a0001c0001t0010g0089a0001c0001t0029g0040 | 2 | 306 | 0.0065 | -24 | c.370 others(41): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MARCHF6_chr5_10348695_10445388 | 10435623 | CTATATAA others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0125 | a0001c0002t0125g0121 | 1 | 284 | 0.0035 | -24 | c.*19 others(35): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1946 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
MARCHF6_chr5_10348695_10445388 | 10435631 | CTATATAA others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0157 | a0001c0001t0157g0165 | 1 | 284 | 0.0035 | -24 | c.*19 others(35): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1954 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
MARCKS_chr6_113852345_113868475 | 113863789 | CATATATA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00735.hp1 others(62): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0009a0001c0001t0021others(5): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0009g0001others(6): Show | 65 | 442 | 0.1471 | -24 | c.*32 others(35): Show |
MARCKS | ENSG00000277443.3 | transcript | ENST00000612661.2 | protein_coding | 315 | chr6 | TogoVar | ||||||
MARCO_chr2_118937194_118999660 | 118986648 | AGAAAGAA others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02698.hp2 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0007a0002c0002 | a0001c0003t0001a0001c0007t0001a0002c0002t0001 | a0001c0003t0001g0224a0001c0007t0001g0038a0002c0002t0001g0369others(1): Show | 4 | 394 | 0.0102 | -24 | c.106 others(43): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MARCO_chr2_118937194_118999660 | 118986672 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 394 | 0.0025 | -24 | c.106 others(43): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MARK3_chr14_103380415_103508831 | 103450898 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0105 | 1 | 348 | 0.0029 | -24 | c.347 others(40): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57492669 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(56): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0002c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0217others(54): Show | 59 | 288 | 0.2049 | -24 | c.770 others(41): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493438 | TTACATAA others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(136): Show | 143 | 288 | 0.4965 | -24 | c.770 others(41): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MASP2_chr1_11021523_11052239 | 11039330 | GTGGATGG others(17): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0251 | 1 | 346 | 0.0029 | -24 | c.890 others(41): Show |
MASP2 | ENSG00000009724.18 | transcript | ENST00000400897.8 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66907587 | CGTGTGTG others(17): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0088 | 1 | 108 | 0.0093 | -24 | c.674 others(41): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 66919898 | CTCCTTCC others(17): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01099.hp2 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(15): Show | a0001c0001t0003g0051a0001c0001t0003g0052a0001c0001t0004g0034others(17): Show | 20 | 108 | 0.1852 | -24 | c.674 others(43): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 67081061 | AATATAAT others(17): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0011others(37): Show | a0001c0001t0008g0028a0001c0001t0008g0079a0001c0001t0009g0042others(48): Show | 51 | 108 | 0.4722 | -24 | c.764 others(41): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MASTL_chr10_27150352_27192953 | 27166973 | GATATGTA others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(163): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0006a0002c0005others(3): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0012others(9): Show | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0009others(131): Show | 166 | 398 | 0.4171 | -24 | c.812 others(38): Show |
MASTL | ENSG00000120539.15 | transcript | ENST00000375940.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MATCAP1_chr16_67170599_67188963 | 67176054 | AGTGTGTG others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02602.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0017a0001c0005t0012g0112 | 4 | 308 | 0.0130 | -24 | c.*73 others(33): Show |
MATCAP1 | ENSG00000196123.13 | transcript | ENST00000563902.2 | protein_coding | 7/7 | 733 | chr16 | TogoVar | |||||
MAVS_chr20_3841834_3881118 | 3870634 | TAAAAAAA others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18944.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0100a0001c0001t0149 | a0001c0001t0100g0225a0001c0001t0149g0063 | 2 | 420 | 0.0048 | -24 | c.*45 others(35): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 7/7 | 4506 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03098.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0186a0001c0001t0002g0145a0001c0001t0005g0159others(1): Show | 4 | 298 | 0.0134 | -24 | c.212 others(43): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7062169 | ATATATAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | -24 | c.-35 others(35): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3494 | chr19 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148102739 | GAGAGAGA others(17): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 188 | 0.0053 | -24 | c.-92 others(45): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBD5_chr2_148016091_148521971 | 148389251 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0051a0001c0001t0002g0099a0001c0001t0005g0145 | 3 | 188 | 0.0160 | -24 | c.-55 others(45): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBD5_chr2_148016091_148521971 | 148407362 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 188 | 0.0053 | -24 | c.-55 others(45): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBD5_chr2_148016091_148521971 | 148424177 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG00738.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(37): Show | 40 | 188 | 0.2128 | -24 | c.-55 others(45): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBD5_chr2_148016091_148521971 | 148447178 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG03139.hp2 HG06807.hp1 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0108a0001c0001t0002g0165a0001c0001t0009g0027others(1): Show | 4 | 188 | 0.0213 | -24 | c.-55 others(45): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBLAC1_chr7_100121967_100133495 | 100131788 | GTTTCTTT others(17): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp1 NA18612.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001a0004c0004t0001g0001 | 3 | 390 | 0.0077 | -24 | c.*35 others(35): Show |
MBLAC1 | ENSG00000214309.5 | transcript | ENST00000398075.4 | protein_coding | 3294 | chr7 | TogoVar | ||||||
MBLAC1_chr7_100121967_100133495 | 100131796 | GTTTCTTT others(17): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 390 | 0.0051 | -24 | c.*36 others(35): Show |
MBLAC1 | ENSG00000214309.5 | transcript | ENST00000398075.4 | protein_coding | 3302 | chr7 | TogoVar | ||||||
MBNL1_chr3_152263929_152470780 | 152332717 | TGTGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0139 | 2 | 338 | 0.0059 | -24 | c.174 others(43): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MBNL2_chr13_97217333_97399120 | 97233126 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01981.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104a0001c0001t0001g0106a0001c0001t0001g0133others(14): Show | 17 | 254 | 0.0669 | -24 | c.-60 others(45): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MBNL3_chrX_132364320_132494038 | 132396347 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0091 | 1 | 191 | 0.0052 | -24 | c.343 others(41): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132408092 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 191 | 0.0052 | -24 | c.178 others(41): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
MBOAT7_chr19_54168415_54194580 | 54188015 | CAGAAAGA others(17): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 373 | 0.0027 | -24 | c.206 others(39): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77117991 | GGGGGACA others(17): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02738.hp2 NA18612.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0082a0001c0001t0002g0256a0001c0001t0002g0260others(16): Show | 19 | 396 | 0.0480 | -24 | c.-25 others(43): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77118010 | TGGGATGG others(17): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 396 | 0.0025 | -24 | c.-25 others(43): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77118644 | CACCACAC others(17): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp1 HG02572.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0216others(12): Show | 15 | 396 | 0.0379 | -24 | c.-25 others(43): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77131073 | GCGCACGC others(17): Show |
G | intron_variant | MODIFIER | NA18957.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0341a0001c0001t0007g0342 | 2 | 396 | 0.0051 | -24 | c.-26 others(41): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51197041 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01928.hp2 HG03492.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0026others(3): Show | a0001c0001t0005g0172a0001c0001t0011g0189a0001c0001t0026g0153others(5): Show | 8 | 340 | 0.0235 | -24 | c.122 others(43): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | ||||||
MC2R_chr18_13877044_13920536 | 13883607 | ACACACAC others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0176 | 1 | 416 | 0.0024 | -24 | c.*99 others(34): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 2/2 | 994 | chr18 | TogoVar | |||||
MC2R_chr18_13877044_13920536 | 13892805 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 HG03486.hp2 |
a0003 | a0003c0003 | a0003c0003t0031 | a0003c0003t0031g0236a0003c0003t0031g0237a0003c0003t0031g0238 | 3 | 416 | 0.0072 | -24 | c.-12 others(43): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 1/1 | chr18 | TogoVar | ||||||
MCCC2_chr5_71582340_71663706 | 71618488 | TCTTCCTT others(17): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02559.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0024a0001c0001t0006g0208a0001c0001t0007g0196 | 3 | 350 | 0.0086 | -24 | c.625 others(41): Show |
MCCC2 | ENSG00000131844.17 | transcript | ENST00000340941.11 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MCCC2_chr5_71582340_71663706 | 71633091 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207a0001c0001t0006g0208 | 2 | 350 | 0.0057 | -24 | c.803 others(39): Show |
MCCC2 | ENSG00000131844.17 | transcript | ENST00000340941.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MCCC2_chr5_71582340_71663706 | 71633109 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 350 | 0.0029 | -24 | c.803 others(39): Show |
MCCC2 | ENSG00000131844.17 | transcript | ENST00000340941.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MCC_chr5_113017106_113493453 | 113132437 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0085 | 1 | 160 | 0.0063 | -24 | c.885 others(41): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 5/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113145737 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 160 | 0.0063 | -24 | c.742 others(41): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113145761 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01361.hp2 HG04115.hp2 |
a0001a0002a0003 | a0001c0011a0002c0013a0003c0005 | a0001c0011t0001a0002c0013t0015a0003c0005t0012 | a0001c0011t0001g0039a0002c0013t0015g0139a0003c0005t0012g0009 | 3 | 160 | 0.0188 | -24 | c.742 others(41): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar |