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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195767817 | C | CCACCACC others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0178 | a0178c0034 | a0178c0034t0002 | a0178c0034t0002g0194 | 1 | 249 | 0.0040 | 18 | c.135 others(39): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767835 | C | CCACCATC others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01261.hp1 others(2): Show |
a0087a0088a0089others(2): Show | a0087c0184a0088c0180a0089c0182others(2): Show | a0087c0184t0003a0088c0180t0003a0089c0182t0003others(2): Show | a0087c0184t0003g0215a0088c0180t0003g0204a0089c0182t0003g0223others(2): Show | 5 | 249 | 0.0201 | 18 | c.135 others(39): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195799260 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03688.hp2 |
a0025a0150 | a0025c0010a0150c0093 | a0025c0010t0001a0150c0093t0001 | a0025c0010t0001g0078a0150c0093t0001g0119 | 2 | 249 | 0.0080 | 18 | c.83- others(33): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195812423 | G | GCACGTGG others(11): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0018 | a0018c0011 | a0018c0011t0001 | a0018c0011t0001g0177a0018c0011t0001g0178 | 2 | 249 | 0.0080 | 18 | c.-60 others(27): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 495 | chr3 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690490 | T | TTAAATAT others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02258.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015 | a0001c0001t0012g0178a0001c0001t0015g0169a0001c0001t0015g0170others(1): Show | 4 | 326 | 0.0123 | 18 | c.358 others(35): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110701685 | C | CTATTTTA others(11): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0295 | 1 | 326 | 0.0031 | 18 | c.628 others(35): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSTN1_chr3_52828121_52840019 | 52828405 | T | TCCAAGCC others(11): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 388 | 0.0026 | 18 | c.*49 others(29): Show |
MUSTN1 | ENSG00000272573.6 | transcript | ENST00000446157.3 | protein_coding | 4715 | chr3 | TogoVar | ||||||
MUTYH_chr1_45324242_45344970 | 45326473 | C | CGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01192.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0037others(3): Show | 11 | 402 | 0.0274 | 18 | c.*28 others(29): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000456914.7 | protein_coding | 2768 | chr1 | TogoVar | ||||||
MUTYH_chr1_45324242_45345440 | 45326473 | C | CGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01192.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0036others(3): Show | 11 | 404 | 0.0272 | 18 | c.*28 others(29): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000710952.2 | protein_coding | 2768 | chr1 | TogoVar | ||||||
MVB12A_chr19_17415047_17430332 | 17425432 | T | TTTGTTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | 18 | c.*43 others(27): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 101 | chr19 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126324533 | T | TAAGAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0282a0001c0001t0013g0260 | 2 | 318 | 0.0063 | 18 | c.-23 others(29): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2295 | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126324536 | T | TAAGAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0263 | 1 | 318 | 0.0031 | 18 | c.-23 others(29): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2292 | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126324539 | T | TAAGAAGA others(11): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 318 | 0.0031 | 18 | c.-23 others(29): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2289 | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126324542 | T | TAAGAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 HG02683.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0275a0001c0001t0004g0253a0001c0001t0004g0255 | 3 | 318 | 0.0094 | 18 | c.-23 others(29): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2286 | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126324545 | T | TAAGAAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0254 | 1 | 318 | 0.0031 | 18 | c.-23 others(29): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2283 | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126332710 | A | ACCCCTTT others(11): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0314a0001c0001t0013g0315 | 2 | 318 | 0.0063 | 18 | c.81+ others(33): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126413818 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18977.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0017 | 2 | 318 | 0.0063 | 18 | c.663 others(35): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126413849 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 318 | 0.0031 | 18 | c.663 others(35): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126413849 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02135.hp1 NA18941.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0213a0001c0001t0001g0215others(3): Show | 6 | 318 | 0.0189 | 18 | c.663 others(35): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126413882 | T | TGCCTCTG others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0273 | 1 | 318 | 0.0031 | 18 | c.663 others(35): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126497653 | T | TCCTGGCT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 |
a0001 | a0001c0005 | a0001c0005t0028 | a0001c0005t0028g0128a0001c0005t0028g0134 | 2 | 318 | 0.0063 | 18 | c.874 others(35): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVK_chr12_109568794_109603125 | 109600672 | C | CTGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00738.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0055a0001c0002t0002g0002a0001c0002t0002g0014others(7): Show | 14 | 382 | 0.0367 | 18 | c.*40 others(29): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2548 | chr12 | TogoVar | ||||||
MX1_chr21_41421239_41464212 | 41424226 | A | AGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0017 | 1 | 408 | 0.0025 | 18 | c.-23 others(29): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 2012 | chr21 | TogoVar | ||||||
MXD4_chr4_2242432_2267109 | 2243987 | G | GACACAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(14): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0016others(45): Show | 124 | 366 | 0.3388 | 18 | c.*65 others(29): Show |
MXD4 | ENSG00000123933.17 | transcript | ENST00000337190.7 | protein_coding | 3444 | chr4 | TogoVar | ||||||
MXD4_chr4_2242432_2267109 | 2244031 | T | TAGAGACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0059a0001c0001t0002g0002a0001c0001t0002g0011others(35): Show | 113 | 366 | 0.3087 | 18 | c.*65 others(29): Show |
MXD4 | ENSG00000123933.17 | transcript | ENST00000337190.7 | protein_coding | 3400 | chr4 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110209924 | C | CCCCAGCC others(11): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18961.hp2 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046a0001c0001t0003g0047a0001c0001t0003g0048 | 3 | 372 | 0.0081 | 18 | c.274 others(35): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA5_chrX_3303565_3351652 | 3316497 | T | TTAATAAT others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01884.hp1 others(27): Show |
a0001a0005a0007others(5): Show | a0001c0001a0005c0005a0007c0006others(5): Show | a0001c0001t0001a0001c0001t0005a0005c0005t0002others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0023others(26): Show | 30 | 284 | 0.1056 | 18 | c.657 others(35): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3342016 | C | CAACAATG others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0163 | 1 | 284 | 0.0035 | 18 | c.188 others(35): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3350697 | T | TATACATA others(11): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01934.hp1 HG01993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0167a0001c0001t0001g0169others(2): Show | 5 | 284 | 0.0176 | 18 | c.-42 others(29): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4046 | chrX | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53867854 | C | CCCCAGCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | 18 | c.-17 others(27): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 28 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878690 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0069 | a0001c0001t0020g0006a0001c0001t0069g0069 | 2 | 378 | 0.0053 | 18 | c.*41 others(29): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2256 | chr19 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591771 | T | TCTTCTCC others(11): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG02897.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0001t0001g0291a0001c0003t0002g0089a0001c0003t0002g0178others(5): Show | 8 | 360 | 0.0222 | 18 | c.-33 others(29): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3199 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(11): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02683.hp1 HG03579.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0004t0002others(2): Show | a0001c0001t0001g0205a0001c0001t0001g0282a0001c0001t0001g0285others(4): Show | 7 | 360 | 0.0194 | 18 | c.-32 others(29): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG02155.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0003t0004others(2): Show | a0001c0001t0002g0095a0001c0001t0002g0238a0001c0001t0006g0162others(4): Show | 7 | 360 | 0.0194 | 18 | c.-32 others(29): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTTC others(11): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 NA19000.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0002 | a0001c0001t0007g0117a0001c0003t0002g0150 | 2 | 360 | 0.0056 | 18 | c.-32 others(29): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101626088 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0331 | 1 | 360 | 0.0028 | 18 | c.104 others(33): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0019others(26): Show | 36 | 374 | 0.0963 | 18 | c.655 others(33): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77266746 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 | 1 | 334 | 0.0030 | 18 | c.135 others(37): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 8/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0024 | 1 | 334 | 0.0030 | 18 | c.594 others(35): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294104 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01928.hp1 HG02132.hp2 others(11): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0131a0001c0005t0002g0132a0001c0005t0002g0133others(11): Show | 14 | 334 | 0.0419 | 18 | c.378 others(35): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294104 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01884.hp1 NA19054.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0158a0001c0002t0001g0115a0001c0006t0001g0321 | 3 | 334 | 0.0090 | 18 | c.378 others(35): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294125 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02523.hp2 NA18612.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0077a0001c0009t0001g0220a0001c0009t0001g0310 | 3 | 334 | 0.0090 | 18 | c.378 others(35): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02273.hp2 NA18964.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0197a0001c0004t0001g0278a0001c0004t0001g0293 | 3 | 334 | 0.0090 | 18 | c.378 others(35): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50510499 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0201 | 1 | 376 | 0.0027 | 18 | c.76+ others(33): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19076.hp2 |
a0002 | a0002c0004a0002c0006 | a0002c0004t0001a0002c0006t0001 | a0002c0004t0001g0026a0002c0006t0001g0201 | 2 | 376 | 0.0053 | 18 | c.125 others(35): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0156 | 1 | 376 | 0.0027 | 18 | c.125 others(35): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03130.hp1 |
a0012a0022 | a0012c0015a0022c0035 | a0012c0015t0001a0022c0035t0001 | a0012c0015t0001g0048a0022c0035t0001g0316 | 2 | 376 | 0.0053 | 18 | c.125 others(35): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50524737 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0027 | a0002c0027t0001 | a0002c0027t0001g0022 | 1 | 376 | 0.0027 | 18 | c.163 others(35): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50524737 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02818.hp1 others(2): Show |
a0002a0015 | a0002c0003a0015c0018 | a0002c0003t0001a0015c0018t0001 | a0002c0003t0001g0327a0002c0003t0001g0348a0002c0003t0001g0349others(2): Show | 5 | 376 | 0.0133 | 18 | c.163 others(35): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50524737 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02615.hp1 others(5): Show |
a0002a0015a0016others(1): Show | a0002c0003a0015c0018a0016c0034others(1): Show | a0002c0003t0001a0015c0018t0001a0016c0034t0001others(1): Show | a0002c0003t0001g0178a0002c0003t0001g0194a0002c0003t0001g0328others(5): Show | 8 | 376 | 0.0213 | 18 | c.163 others(35): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |