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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195777899 | G | GCCATACC others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02602.hp1 |
a0088a0089 | a0088c0180a0089c0182 | a0088c0180t0003a0089c0182t0003 | a0088c0180t0003g0204 a0089c0182t0003g0223 |
2 | 249 | 0.0080 | 15 | c.129 others(34): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777914 | C | CCCATACC others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02258.hp2 HG02976.hp2 others(2): Show |
a0052a0060a0062others(2): Show | a0052c0140a0060c0199a0062c0197others(2): Show | a0052c0140t0002a0060c0199t0009a0062c0197t0009others(2): Show | a0052c0140t0002g0062 a0060c0199t0009g0224 a0062c0197t0009g0243 others(2): Show |
5 | 249 | 0.0201 | 15 | c.129 others(34): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195791241 | T | TGTCTCCT others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show |
a0002a0004a0005others(148): Show | a0002c0002a0002c0098a0002c0099others(159): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(159): Show | a0002c0002t0001g0002 a0002c0002t0001g0120 a0002c0002t0001g0128 others(185): Show |
189 | 249 | 0.7590 | 15 | c.338 others(22): Show |
p.Thr others(28): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 450/16756 | 338/16239 | 113/5412 | chr3 | TogoVar | |||
MUC5AC_chr11_1152953_1206138 | 1170978 | C | CCCACTCA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(137): Show |
a0001a0002a0003others(38): Show | a0001c0013a0001c0023a0001c0092others(60): Show | a0001c0013t0001a0001c0023t0001a0001c0092t0001others(61): Show | a0001c0013t0001g0050 a0001c0013t0001g0083 a0001c0013t0001g0129 others(123): Show |
140 | 292 | 0.4795 | 15 | c.187 others(34): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1250739 | G | GCACAACC others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19011.hp1 | a0154 | a0154c0186 | a0154c0186t0001 | a0154c0186t0001g0165 | 1 | 350 | 0.0029 | 15 | c.138 others(26): Show |
p.Thr others(15): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 13956/17911 | 13898/17289 | 4633/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MUSK_chr9_110663791_110811558 | 110676360 | A | ATATTATA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01346.hp1 |
a0001a0005 | a0001c0002a0005c0005 | a0001c0002t0001a0005c0005t0003 | a0001c0002t0001g0116 a0005c0005t0003g0089 |
2 | 326 | 0.0061 | 15 | c.80- others(30): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110676364 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02559.hp2 HG02965.hp1 others(1): Show |
a0001a0002 | a0001c0010a0002c0027 | a0001c0010t0006a0002c0027t0005 | a0001c0010t0006g0131 a0001c0010t0006g0132 a0001c0010t0006g0133 others(1): Show |
4 | 326 | 0.0123 | 15 | c.80- others(30): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110681086 | A | ATATTATA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp2 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0014a0002c0012others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(15): Show | a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0002g0109 others(41): Show |
45 | 326 | 0.1380 | 15 | c.80- others(30): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110701652 | A | ATTATTTT others(8): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 326 | 0.0031 | 15 | c.628 others(32): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701685 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0241 | 1 | 326 | 0.0031 | 15 | c.628 others(32): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701685 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0232 | 1 | 326 | 0.0031 | 15 | c.628 others(32): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701690 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 326 | 0.0031 | 15 | c.628 others(32): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110731947 | C | CTTTCCGA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 others(153): Show |
157 | 326 | 0.4816 | 15 | c.629 others(32): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVB12A_chr19_17415047_17430332 | 17417213 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0076 a0001c0001t0001g0080 |
4 | 400 | 0.0100 | 15 | c.-29 others(26): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 2833 | chr19 | TogoVar | |||||||
MVB12A_chr19_17415047_17430332 | 17418376 | A | ATATTATT others(8): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 400 | 0.0025 | 15 | c.-17 others(26): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 1670 | chr19 | TogoVar | |||||||
MVB12A_chr19_17415047_17430332 | 17425432 | T | TTTGTTGT others(8): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 400 | 0.0050 | 15 | c.*43 others(24): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 101 | chr19 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126324536 | T | TAAGAAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG02004.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0004g0290 others(3): Show |
6 | 318 | 0.0189 | 15 | c.-23 others(26): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2292 | chr9 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126324539 | T | TAAGAAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0040 | a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0040g0252 |
3 | 318 | 0.0094 | 15 | c.-23 others(26): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2289 | chr9 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126324542 | T | TAAGAAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 HG02523.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0032others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0286 a0001c0001t0004g0265 others(2): Show |
5 | 318 | 0.0157 | 15 | c.-23 others(26): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2286 | chr9 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126324545 | T | TAAGAAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 NA18942.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0292 |
3 | 318 | 0.0094 | 15 | c.-23 others(26): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2283 | chr9 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126324545 | T | TAATAAGA others(8): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0284 a0001c0001t0004g0004 |
2 | 318 | 0.0063 | 15 | c.-23 others(26): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2283 | chr9 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126324545 | T | TAATAATA others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0283 a0001c0001t0009g0264 |
2 | 318 | 0.0063 | 15 | c.-23 others(26): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2283 | chr9 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126491039 | T | TACAGTTT others(8): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0080 | 1 | 318 | 0.0031 | 15 | c.873 others(32): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126509316 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0081 a0001c0001t0009g0257 |
2 | 318 | 0.0063 | 15 | c.*60 others(26): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2277 | chr9 | TogoVar | |||||||
MVB12B_chr9_126321829_126512040 | 126509318 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 318 | 0.0031 | 15 | c.*60 others(26): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2279 | chr9 | TogoVar | |||||||
MVD_chr16_88646940_88668091 | 88664603 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG02922.hp2 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0005a0001c0013t0012 | a0001c0002t0005g0059 a0001c0013t0012g0229 |
2 | 434 | 0.0046 | 15 | c.-15 others(26): Show |
MVD | ENSG00000167508.12 | transcript | ENST00000301012.8 | protein_coding | 1513 | chr16 | TogoVar | |||||||
MVK_chr12_109568794_109603125 | 109573841 | G | GGGCGGCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0005 | 1 | 382 | 0.0026 | 15 | c.-37 others(22): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 1/11 | 957 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MX2_chr21_41357027_41414393 | 41369823 | A | ACCCCTGC others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 374 | 0.0027 | 15 | c.-71 others(32): Show |
MX2 | ENSG00000183486.14 | transcript | ENST00000330714.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110226916 | T | TGTGAGGA others(8): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186 | 1 | 372 | 0.0027 | 15 | c.275 others(32): 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(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(75): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0038a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 others(74): Show |
78 | 284 | 0.2747 | 15 | c.657 others(32): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/6 | chrX | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1359287 | G | GCTGGATT others(8): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 338 | 0.0030 | 15 | c.-79 others(24): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 733 | chr1 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878650 | A | AAATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0006 | 1 | 378 | 0.0027 | 15 | c.*41 others(26): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2216 | chr19 | TogoVar | |||||||
MYBL1_chr8_66557175_66618218 | 66602733 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 238 | 0.0042 | 15 | c.21- others(28): Show |
MYBL1 | ENSG00000185697.17 | transcript | ENST00000522677.8 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
MYBL2_chr20_43662114_43721482 | 43706719 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0110 | 1 | 274 | 0.0037 | 15 | c.150 others(34): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 HG02630.hp2 NA18612.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0004g0259 a0001c0001t0007g0175 a0001c0001t0009g0252 others(2): Show |
5 | 360 | 0.0139 | 15 | c.-32 others(26): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01255.hp1 NA18979.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0179 a0001c0001t0005g0241 a0002c0002t0002g0222 |
3 | 360 | 0.0083 | 15 | c.-32 others(26): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTTC others(8): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 NA18967.hp1 NA19000.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0002 | a0001c0001t0001g0180 a0001c0003t0002g0155 a0002c0002t0002g0325 |
3 | 360 | 0.0083 | 15 | c.-32 others(26): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591846 | T | TCTCCTTC others(8): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 NA18995.hp2 NA19002.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0001a0002c0002t0006 | a0001c0001t0007g0156 a0002c0002t0001g0214 a0002c0002t0006g0331 |
3 | 360 | 0.0083 | 15 | c.-32 others(26): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3124 | chr12 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101624683 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0012 | a0001c0012t0013 | a0001c0012t0013g0066 | 1 | 360 | 0.0028 | 15 | c.104 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101626088 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18951.hp1 NA18955.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0196 a0002c0002t0003g0341 a0002c0002t0006g0132 others(2): Show |
5 | 360 | 0.0139 | 15 | c.104 others(30): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101647576 | G | GAAAACAA others(8): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18948.hp1 NA18967.hp1 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0005others(1): Show | a0001c0003t0002g0145 a0001c0003t0002g0150 a0001c0003t0002g0155 others(7): Show |
10 | 360 | 0.0278 | 15 | c.109 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101661915 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01993.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0180 a0001c0001t0001g0237 a0001c0001t0003g0055 others(3): Show |
6 | 360 | 0.0167 | 15 | c.203 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 20/31 | chr12 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348927 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 374 | 0.0027 | 15 | c.655 others(30): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77285857 | G | GGGAAAGG others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00597.hp2 others(22): Show |
a0001a0002a0014 | a0001c0002a0001c0003a0001c0006others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(5): Show | a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0039 others(22): Show |
25 | 334 | 0.0749 | 15 | c.594 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286787 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0013 | a0013c0037 | a0013c0037t0002 | a0013c0037t0002g0134 | 1 | 334 | 0.0030 | 15 | c.594 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77286789 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0012 | a0012c0038 | a0012c0038t0002 | a0012c0038t0002g0198 | 1 | 334 | 0.0030 | 15 | c.594 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77317938 | A | AAACATAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0226 |
2 | 334 | 0.0060 | 15 | c.302 others(32): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 1/82 | chr13 | TogoVar | |||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03831.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0187 a0002c0006t0001g0199 |
2 | 376 | 0.0053 | 15 | c.125 others(32): 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(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 HG02896.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0361 a0004c0005t0001g0029 a0004c0005t0001g0221 others(1): Show |
4 | 376 | 0.0106 | 15 | c.125 others(32): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50525659 | C | CTCTTTTT others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 NA19003.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0160 a0001c0001t0001g0267 |
3 | 376 | 0.0080 | 15 | c.178 others(32): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |