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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTCL1_chr18_8700556_8837778 | 8726498 | CGCGCGCG others(33): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0010 | a0010c0042 | a0010c0042t0001 | a0010c0042t0001g0034 | 1 | 336 | 0.0030 | -40 | c.143 others(59): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97682244 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | NA18940.hp1 NA18975.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0339a0001c0001t0004g0340a0001c0001t0010g0290 | 3 | 370 | 0.0081 | -40 | c.484 others(57): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTG2_chr20_62178028_62208568 | 62204365 | TGTGTGTG others(33): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0040 | a0001c0001t0004g0018a0001c0001t0004g0091a0001c0001t0004g0290others(1): Show | 6 | 412 | 0.0146 | -40 | c.*32 others(51): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 798 | chr20 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62204367 | TGTGTGTG others(33): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp2 others(45): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0007 | a0001c0001t0004a0001c0001t0017a0001c0001t0018others(5): Show | a0001c0001t0004g0002a0001c0001t0004g0011a0001c0001t0004g0083others(39): Show | 48 | 412 | 0.1165 | -40 | c.*32 others(51): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 800 | chr20 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64397134 | AAAAAATA others(33): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0179 | 1 | 342 | 0.0029 | -40 | c.42- others(55): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTHFD2L_chr4_74153118_74308099 | 74188716 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0156a0001c0001t0002g0002a0001c0001t0002g0003others(4): Show | 7 | 200 | 0.0350 | -40 | c.452 others(59): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MTSS1_chr8_124545784_124733473 | 124718116 | ATAACCCA others(33): Show |
A | intron_variant | MODIFIER | HG02300.hp1 HG02683.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0256a0001c0001t0001g0257a0001c0001t0001g0258others(1): Show | 4 | 286 | 0.0140 | -40 | c.72+ others(55): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29389791 | GTATATAC others(33): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0004 | a0001c0001t0003a0003c0003t0001a0007c0004t0002others(1): Show | a0001c0001t0003g0091a0003c0003t0001g0037a0007c0004t0002g0013others(1): Show | 4 | 92 | 0.0435 | -40 | c.311 others(61): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MTUS2_chr13_28815339_29510947 | 29389882 | CATATGTG others(33): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0011 | a0002c0011t0023 | a0002c0011t0023g0041 | 1 | 92 | 0.0109 | -40 | c.311 others(61): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC12_chr7_100964565_101023936 | 101018065 | GGGACTCC others(33): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01099.hp1 others(85): Show |
a0002a0003a0006others(62): Show | a0002c0004a0002c0007a0002c0245others(68): Show | a0002c0004t0001a0002c0007t0001a0002c0245t0001others(69): Show | a0002c0004t0001g0001a0002c0004t0001g0046a0002c0004t0001g0054others(82): Show | 88 | 342 | 0.2573 | -40 | c.159 others(59): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MUC15_chr11_26554032_26577263 | 26564722 | CACACACA others(33): Show |
C | intron_variant | MODIFIER | HG02602.hp1 HG02896.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0009 | a0001c0003t0003g0250a0001c0003t0009g0198 | 2 | 466 | 0.0043 | -40 | c.775 others(55): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 3/4 | chr11 | TogoVar | ||||||
MUC17_chr7_101015081_101063859 | 101018065 | GGGACTCC others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp1 others(83): Show |
a0001a0003a0007others(23): Show | a0001c0001a0001c0083a0001c0096others(30): Show | a0001c0001t0002a0001c0001t0003a0001c0083t0004others(32): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006others(70): Show | 86 | 366 | 0.2350 | -40 | c.-20 others(51): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 2015 | chr7 | TogoVar | ||||||
MUC20_chr3_195715978_195738551 | 195717110 | CTATTTAG others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG02486.hp2 others(5): Show |
a0000a0021a0024others(2): Show | a0000c0026a0000c0028a0000c0029others(4): Show | a0000c0026t0004a0000c0028t0004a0000c0029t0004others(4): Show | a0000c0026t0004g0103a0000c0028t0004g0101a0000c0029t0004g0102others(5): Show | 8 | 185 | 0.0432 | -40 | c.-38 others(51): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 3867 | chr3 | TogoVar | ||||||
MUC20_chr3_195715978_195738551 | 195727798 | TATATGTT others(33): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0054 | a0054c0035 | a0054c0035t0002 | a0054c0035t0002g0021 | 1 | 185 | 0.0054 | -40 | c.196 others(59): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MUC21_chr6_30978718_30994903 | 30993227 | TTGGCTGC others(33): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00621.hp2 others(83): Show |
a0003a0006a0007others(1): Show | a0003c0005a0003c0008a0003c0009others(3): Show | a0003c0005t0002a0003c0005t0008a0003c0005t0010others(12): Show | a0003c0005t0002g0003a0003c0005t0002g0014a0003c0005t0002g0025others(22): Show | 86 | 448 | 0.1920 | -40 | c.*50 others(51): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 3325 | chr6 | TogoVar | ||||||
MUC21_chr6_30978718_30994903 | 30993412 | CTCCCAGA others(33): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01358.hp1 HG02572.hp1 others(9): Show |
a0002a0011a0015 | a0002c0002a0011c0015a0015c0018 | a0002c0002t0009a0002c0002t0023a0002c0002t0035others(2): Show | a0002c0002t0009g0008a0002c0002t0009g0012a0002c0002t0023g0008others(3): Show | 12 | 448 | 0.0268 | -40 | c.*52 others(51): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 3510 | chr6 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1159532 | TCTGTGCG others(33): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0066 | a0066c0071 | a0066c0071t0001 | a0066c0071t0001g0148 | 1 | 292 | 0.0034 | -40 | c.74- others(54): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MVD_chr16_88646940_88668091 | 88664572 | CATCTCAA others(33): Show |
C | upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 434 | 0.0023 | -40 | c.-15 others(51): Show |
MVD | ENSG00000167508.12 | transcript | ENST00000301012.8 | protein_coding | 1482 | chr16 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(33): Show |
T | downstream_gene_variant | MODIFIER | HG02165.hp2 HG03209.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015 | a0001c0001t0004g0009a0001c0001t0015g0044 | 3 | 338 | 0.0089 | -40 | c.*35 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350326 | AGGAGCGA others(33): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01261.hp1 HG04184.hp1 |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0004a0008c0012t0004 | a0001c0001t0004g0017a0008c0012t0004g0030 | 3 | 338 | 0.0089 | -40 | c.*32 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2364 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1350441 | CGGGCAGG others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0051 | 1 | 338 | 0.0030 | -40 | c.*31 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2249 | chr1 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1351166 | TGGAGCGA others(33): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | -40 | c.*23 others(51): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1524 | chr1 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53880510 | GAGATTCA others(33): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0059 | 1 | 378 | 0.0027 | -40 | c.*60 others(51): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 4076 | chr19 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50534116 | TCCCTTCT others(33): Show |
T | downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 376 | 0.0027 | -40 | c.*26 others(51): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 2616 | chr17 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8550100 | CGGCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0021 | a0001c0021t0021 | a0001c0021t0021g0122 | 1 | 274 | 0.0037 | -40 | c.920 others(57): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 9/42 | chr17 | TogoVar | ||||||
MYH15_chr3_108375368_108515596 | 108507226 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG02559.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091a0002c0002t0001g0092a0002c0002t0001g0093others(2): Show | 5 | 306 | 0.0163 | -40 | c.89- others(55): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 1/40 | chr3 | TogoVar | ||||||
MYH9_chr22_36276280_36392967 | 36290980 | CCTCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 242 | 0.0041 | -40 | c.434 others(58): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 31/40 | chr22 | TogoVar | ||||||
MYL10_chr7_101608330_101634296 | 101609672 | TCTTCCTC others(33): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01070.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0023others(21): Show | 36 | 398 | 0.0905 | -40 | c.*37 others(51): Show |
MYL10 | ENSG00000106436.8 | transcript | ENST00000223167.5 | protein_coding | 3657 | chr7 | TogoVar | ||||||
MYL5_chr4_669542_687028 | 681595 | CCGCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0023a0001c0001t0001g0033others(37): Show | 133 | 412 | 0.3228 | -40 | c.421 others(55): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MYO10_chr5_16656907_16941288 | 16891318 | GAAAAGGA others(33): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02976.hp1 NA18612.hp2 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0009a0001c0001t0026a0001c0001t0114others(6): Show | a0001c0001t0009g0248a0001c0001t0026g0241a0001c0001t0114g0038others(6): Show | 9 | 272 | 0.0331 | -40 | c.22- others(57): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16891320 | AAAGGAAG others(33): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02630.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0015a0001c0022others(6): Show | a0001c0001t0100a0001c0001t0101a0001c0015t0111others(8): Show | a0001c0001t0100g0155a0001c0001t0101g0156a0001c0015t0111g0009others(8): Show | 11 | 272 | 0.0404 | -40 | c.22- others(57): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16891343 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA18522.hp2 |
a0001a0002 | a0001c0034a0002c0002 | a0001c0034t0036a0002c0002t0154 | a0001c0034t0036g0013a0002c0002t0154g0245 | 2 | 272 | 0.0074 | -40 | c.22- others(57): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108997326 | AAGAAAGA others(33): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02647.hp1 HG02895.hp1 others(3): Show |
a0001a0006a0029 | a0001c0002a0001c0005a0001c0010others(2): Show | a0001c0002t0002a0001c0005t0001a0001c0010t0001others(2): Show | a0001c0002t0002g0090a0001c0005t0001g0011a0001c0010t0001g0129others(3): Show | 6 | 152 | 0.0395 | -40 | c.244 others(59): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25945817 | CCCTCCCC others(33): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01257.hp1 others(17): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(15): Show | a0001c0001t0001g0218a0001c0005t0001g0188a0001c0005t0001g0191others(17): Show | 20 | 228 | 0.0877 | -40 | c.551 others(57): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 26033794 | CTCCTTCC others(33): Show |
C | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0053 | a0053c0056 | a0053c0056t0001 | a0053c0056t0001g0075 | 1 | 228 | 0.0044 | -40 | c.*33 others(51): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 2750 | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 26033801 | CTTCCTTT others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02630.hp2 others(4): Show |
a0006a0008a0011others(4): Show | a0006c0093a0008c0016a0011c0122others(4): Show | a0006c0093t0001a0008c0016t0001a0011c0122t0001others(4): Show | a0006c0093t0001g0098a0008c0016t0001g0066a0011c0122t0001g0024others(4): Show | 7 | 228 | 0.0307 | -40 | c.*33 others(51): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 2757 | chr22 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8574553 | TTCTTTCT others(33): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0018a0001c0022t0002 | a0001c0001t0018g0129a0001c0022t0002g0130 | 2 | 342 | 0.0059 | -40 | c.3+2 others(53): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52285421 | CTCTCCCT others(33): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0018 | a0018c0029 | a0018c0029t0006 | a0018c0029t0006g0241 | 1 | 360 | 0.0028 | -40 | c.28- others(55): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52286104 | CCCCTCCG others(33): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0304 | 1 | 360 | 0.0028 | -40 | c.28- others(55): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1/40 | chr15 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75768326 | CATTTTAT others(33): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00673.hp2 others(31): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0009a0001c0001t0018a0001c0001t0028others(15): Show | a0001c0001t0009g0319a0001c0001t0009g0321a0001c0001t0009g0322others(31): Show | 34 | 358 | 0.0950 | -40 | c.-48 others(59): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYO9A_chr15_71817291_72123150 | 72100509 | GGTGAGGA others(33): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0054a0001c0001t0055 | a0001c0001t0053g0004a0001c0001t0054g0005a0001c0001t0055g0006 | 3 | 308 | 0.0097 | -40 | c.-72 others(59): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2072257 | GATGCTCT others(33): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG02109.hp1 others(28): Show |
a0001a0002a0003others(7): Show | a0001c0023a0001c0128a0002c0019others(17): Show | a0001c0023t0001a0001c0128t0001a0002c0019t0001others(19): Show | a0001c0023t0001g0385a0001c0023t0001g0391a0001c0128t0001g0386others(28): Show | 31 | 403 | 0.0769 | -40 | c.794 others(53): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2072278 | ATGAAAGC others(33): Show |
A | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG02630.hp2 HG02647.hp2 others(1): Show |
a0002a0081 | a0002c0015a0002c0098a0002c0123others(1): Show | a0002c0015t0001a0002c0098t0001a0002c0123t0001others(1): Show | a0002c0015t0001g0191a0002c0098t0001g0208a0002c0123t0001g0192others(1): Show | 4 | 403 | 0.0099 | -40 | c.794 others(52): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2100045 | CTTCTTTC others(33): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0073 | a0073c0112 | a0073c0112t0001 | a0073c0112t0001g0244 | 1 | 403 | 0.0025 | -40 | c.244 others(57): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2100109 | TTTCTTTC others(33): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0025 | a0025c0188 | a0025c0188t0001 | a0025c0188t0001g0056 | 1 | 403 | 0.0025 | -40 | c.244 others(57): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2127564 | CCAGGCAG others(33): Show |
C | intron_variant | MODIFIER | HG03017.hp1 HG03669.hp1 HG04228.hp1 |
a0013a0016a0056 | a0013c0030a0016c0078a0056c0168 | a0013c0030t0002a0016c0078t0002a0056c0168t0002 | a0013c0030t0002g0300a0016c0078t0002g0247a0056c0168t0002g0318 | 3 | 403 | 0.0074 | -40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2127716 | ACGCAGCC others(33): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0011 | a0011c0184 | a0011c0184t0001 | a0011c0184t0001g0055 | 1 | 403 | 0.0025 | -40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69853572 | ACGCTCCT others(33): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 322 | 0.0031 | -40 | c.47- others(55): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69891597 | CTTTCTTT others(33): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02165.hp2 HG02615.hp2 others(1): Show |
a0001a0010a0018 | a0001c0001a0001c0003a0010c0014others(1): Show | a0001c0001t0003a0001c0003t0004a0010c0014t0001others(1): Show | a0001c0001t0003g0229a0001c0003t0004g0232a0010c0014t0001g0127others(1): Show | 4 | 322 | 0.0124 | -40 | c.903 others(55): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYT1L_chr2_1784113_2336275 | 2236281 | GCCCAGCA others(33): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02135.hp2 NA18990.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0006a0001c0003t0001others(2): Show | a0001c0001t0001g0032a0001c0002t0006g0022a0001c0003t0001g0041others(2): Show | 5 | 104 | 0.0481 | -40 | c.-42 others(61): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar |