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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LPA_chr6_160526482_160669275 | 160653982 | ATATATAA others(46): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0119 | 1 | 148 | 0.0068 | -53 | c.50- others(68): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 1/38 | chr6 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188784668 | TTCCATCA others(46): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0065 | 1 | 76 | 0.0132 | -53 | c.141 others(74): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRP12_chr8_104484236_104594258 | 104548329 | TATTATAT others(46): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0036 | 1 | 318 | 0.0031 | -53 | c.80- others(70): Show |
LRP12 | ENSG00000147650.12 | transcript | ENST00000276654.10 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
LRPAP1_chr4_3498612_3537422 | 3511843 | AGAGCCGG others(46): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(293): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(140): Show | a0001c0001t0001g0009a0001c0001t0001g0023a0001c0001t0001g0026others(217): Show | 296 | 420 | 0.7048 | -53 | c.*10 others(64): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 1078 | chr4 | TogoVar | |||||
LRPAP1_chr4_3498612_3537422 | 3512061 | GGACCCGA others(46): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0003 | a0002c0003t0094 | a0002c0003t0094g0237 | 1 | 420 | 0.0024 | -53 | c.*86 others(62): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 860 | chr4 | TogoVar | |||||
LRRC56_chr11_532527_559912 | 545502 | AGACCAGA others(46): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0002c0002t0003 | a0001c0001t0024g0090a0002c0002t0003g0070a0002c0002t0003g0091 | 3 | 387 | 0.0078 | -53 | c.326 others(68): Show |
LRRC56 | ENSG00000161328.11 | transcript | ENST00000270115.8 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LSS_chr21_46183446_46233774 | 46184458 | ACAACCCA others(46): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01433.hp2 HG01515.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0008a0001c0004t0019others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0154a0001c0004t0008g0250others(9): Show | 13 | 358 | 0.0363 | -53 | c.*65 others(64): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3987 | chr21 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185454035 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 278 | 0.0036 | -53 | c.127 others(72): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | chr3 | TogoVar | ||||||
MAPK1_chr22_21754657_21872645 | 21814780 | AGATCACG others(46): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 348 | 0.0029 | -53 | c.120 others(70): Show |
MAPK1 | ENSG00000100030.15 | transcript | ENST00000215832.11 | protein_coding | 1/8 | chr22 | TogoVar | ||||||
MARS1_chr12_57483068_57521652 | 57493736 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0252 | 1 | 288 | 0.0035 | -53 | c.770 others(70): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493766 | TTATATAT others(46): Show |
T | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 288 | 0.0035 | -53 | c.770 others(70): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 67081032 | AATATAAT others(46): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02572.hp2 others(4): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0004c0007others(3): Show | a0001c0001t0008a0001c0001t0026a0001c0003t0029others(4): Show | a0001c0001t0008g0087a0001c0001t0026g0105a0001c0003t0029g0045others(4): Show | 7 | 108 | 0.0648 | -53 | c.764 others(70): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(46): Show |
C | intron_variant | MODIFIER | HG03516.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0260 | 2 | 298 | 0.0067 | -53 | c.212 others(72): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7035118 | ATATATAT others(46): Show |
A | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 262 | 0.0038 | -53 | c.*26 others(64): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2630 | chr19 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6505287 | TTATATAC others(46): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0015 | a0015c0050 | a0015c0050t0027 | a0015c0050t0027g0237 | 1 | 262 | 0.0038 | -53 | c.221 others(72): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MED27_chr9_131855112_132084867 | 131931800 | GAATATCA others(46): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 274 | 0.0037 | -53 | c.573 others(70): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 4/7 | chr9 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142042355 | ATTATATA others(46): Show |
A | intron_variant | MODIFIER | HG03239.hp1 NA18960.hp2 NA18983.hp1 others(1): Show |
a0001a0002a0003 | a0001c0073a0001c0103a0002c0002others(1): Show | a0001c0073t0001a0001c0103t0001a0002c0002t0001others(1): Show | a0001c0073t0001g0022a0001c0103t0001g0156a0002c0002t0001g0174others(1): Show | 4 | 316 | 0.0127 | -53 | c.249 others(72): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142043528 | ATATGAAT others(46): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01099.hp1 others(38): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0011a0001c0026others(18): Show | a0001c0001t0001a0001c0011t0001a0001c0026t0001others(18): Show | a0001c0001t0001g0032a0001c0001t0001g0196a0001c0001t0001g0253others(38): Show | 41 | 316 | 0.1298 | -53 | c.249 others(72): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MIEF2_chr17_18255662_18271552 | 18269994 | CTCACAGG others(46): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 418 | 0.0024 | -53 | c.*52 others(64): Show |
MIEF2 | ENSG00000177427.13 | transcript | ENST00000323019.9 | protein_coding | 3443 | chr17 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543269 | GGACAGTG others(46): Show |
G | intron_variant | MODIFIER | HG03130.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0258a0001c0001t0003g0131 | 2 | 286 | 0.0070 | -53 | c.153 others(70): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543442 | GACAGTGG others(46): Show |
G | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 286 | 0.0035 | -53 | c.153 others(70): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543473 | GGGGGCAC others(46): Show |
G | intron_variant | MODIFIER | HG03710.hp2 NA19012.hp2 |
a0002a0021 | a0002c0002a0021c0026 | a0002c0002t0001a0021c0026t0002 | a0002c0002t0001g0053a0021c0026t0002g0038 | 2 | 286 | 0.0070 | -53 | c.153 others(70): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544587 | ATAGTGGT others(46): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0103 | 1 | 286 | 0.0035 | -53 | c.153 others(72): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MMEL1_chr1_2585639_2638016 | 2611423 | TGGTGGGT others(46): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0267 | 1 | 343 | 0.0029 | -53 | c.233 others(67): Show |
MMEL1 | ENSG00000142606.16 | transcript | ENST00000378412.8 | protein_coding | 3/23 | chr1 | TogoVar | ||||||
MOB4_chr2_197511066_197558699 | 197541388 | TTAGGCCA others(46): Show |
T | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 360 | 0.0028 | -53 | c.354 others(69): Show |
MOB4 | ENSG00000115540.15 | transcript | ENST00000323303.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRAP2_chr6_84028772_84095881 | 84084879 | TTTTATTT others(46): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03453.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0193a0001c0002t0006g0194a0001c0002t0006g0195 | 3 | 272 | 0.0110 | -53 | c.228 others(70): Show |
MRAP2 | ENSG00000135324.6 | transcript | ENST00000257776.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233787586 | CATATATA others(46): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00642.hp1 others(48): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0035a0002c0015others(26): Show | a0001c0001t0001a0001c0035t0001a0002c0015t0001others(26): Show | a0001c0001t0001g0303a0001c0001t0001g0305a0001c0001t0001g0332others(47): Show | 51 | 378 | 0.1349 | -53 | c.277 others(70): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233787911 | ATTATATA others(46): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02683.hp1 |
a0001a0107 | a0001c0001a0107c0140 | a0001c0001t0001a0107c0140t0001 | a0001c0001t0001g0312a0107c0140t0001g0313 | 2 | 378 | 0.0053 | -53 | c.277 others(70): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | chr2 | TogoVar | ||||||
MRPL41_chr9_137546879_137557555 | 137550712 | GCCGCTGG others(46): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 408 | 0.0074 | -53 | c.-12 others(64): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 1166 | chr9 | TogoVar | ||||||
MRPL41_chr9_137546879_137557555 | 137550877 | AGGGAGGG others(46): Show |
A | upstream_gene_variant | MODIFIER | NA18964.hp1 NA18988.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 408 | 0.0074 | -53 | c.-11 others(64): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 1001 | chr9 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767968 | CCGTGTGG others(46): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02970.hp1 HG03041.hp2 |
a0007 | a0007c0016 | a0007c0016t0005 | a0007c0016t0005g0012a0007c0016t0005g0229 | 3 | 388 | 0.0077 | -53 | c.159 others(70): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56568218 | AGAAAGAA others(46): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 428 | 0.0023 | -53 | c.97+ others(66): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
MTA1_chr14_105414827_105475729 | 105442743 | GCAGAACA others(46): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0037 | 1 | 304 | 0.0033 | -53 | c.97- others(68): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTA1_chr14_105414827_105475729 | 105442778 | GCTGTGTG others(46): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 304 | 0.0033 | -53 | c.97- others(68): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTG1_chr10_133389157_133427520 | 133403288 | CGAGCGTT others(46): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(187): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(121): Show | 190 | 428 | 0.4439 | -53 | c.752 others(68): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50530463 | CCAGCTTG others(46): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0287 | 1 | 376 | 0.0027 | -53 | c.272 others(70): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 18/18 | chr17 | TogoVar | ||||||
MYEOV_chr11_69289155_69302287 | 69301176 | CGGGATAT others(46): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0002 | 4 | 414 | 0.0097 | -53 | c.*47 others(64): Show |
MYEOV | ENSG00000172927.9 | transcript | ENST00000441339.3 | protein_coding | 3890 | chr11 | TogoVar | ||||||
MYH9_chr22_36276280_36392967 | 36317000 | GATCTCAT others(46): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02135.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0001t0015a0001c0007t0001 | a0001c0001t0004g0051a0001c0001t0004g0212a0001c0001t0015g0044others(1): Show | 4 | 242 | 0.0165 | -53 | c.122 others(70): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 11/40 | chr22 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16891315 | AGAGAAAA others(46): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0015a0001c0038 | a0001c0001t0087a0001c0015t0060a0001c0015t0131others(1): Show | a0001c0001t0087g0011a0001c0015t0060g0032a0001c0015t0131g0015others(1): Show | 4 | 272 | 0.0147 | -53 | c.22- others(70): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50043376 | TAATATAT others(46): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0010 | a0010c0018 | a0010c0018t0016 | a0010c0018t0016g0143 | 1 | 238 | 0.0042 | -53 | c.139 others(70): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 2/39 | chr18 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 72008453 | GTGTGTGT others(46): Show |
G | intron_variant | MODIFIER | NA18948.hp2 NA18953.hp2 NA18964.hp1 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0010 | a0003c0004t0003g0235a0003c0004t0003g0238a0003c0004t0003g0239others(6): Show | 9 | 308 | 0.0292 | -53 | c.125 others(70): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 7/41 | chr15 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1994318 | CGCCCTGC others(46): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG02818.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0005a0001c0006a0001c0018 | a0001c0005t0012a0001c0006t0001a0001c0006t0003others(2): Show | a0001c0005t0012g0092a0001c0006t0001g0083a0001c0006t0003g0027others(2): Show | 5 | 104 | 0.0481 | -53 | c.-1+ others(68): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 5/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2035363 | CGGGTGCA others(46): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 |
a0001 | a0001c0004a0001c0013 | a0001c0004t0009a0001c0013t0019 | a0001c0004t0009g0001a0001c0013t0019g0065 | 2 | 104 | 0.0192 | -53 | c.-15 others(74): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2149746 | TAGGCTGC others(46): Show |
T | intron_variant | MODIFIER | HG06807.hp2 NA20905.hp1 |
a0001 | a0001c0005a0001c0020 | a0001c0005t0011a0001c0020t0005 | a0001c0005t0011g0074a0001c0020t0005g0081 | 2 | 104 | 0.0192 | -53 | c.-30 others(74): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 3/24 | chr2 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64169326 | GGCGCGTC others(46): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0042 | 1 | 223 | 0.0045 | -53 | c.-99 others(70): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64173439 | GTAGTTGT others(46): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0023a0001c0001t0001g0048a0001c0001t0001g0051others(55): Show | 59 | 223 | 0.2646 | -53 | c.-99 others(70): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64174613 | TCCCCTCC others(46): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0216 | 1 | 223 | 0.0045 | -53 | c.-99 others(70): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64174792 | CCTGTAGT others(46): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170a0001c0001t0003g0171a0001c0001t0003g0172 | 3 | 223 | 0.0135 | -53 | c.-99 others(72): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175431 | TAGCATCT others(46): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0164a0001c0002t0002g0082 | 2 | 223 | 0.0090 | -53 | c.-99 others(72): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NAPA_chr19_47482637_47520063 | 47490422 | ATGTGTGT others(46): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(226): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(172): Show | 229 | 338 | 0.6775 | -53 | c.735 others(68): Show |
NAPA | ENSG00000105402.8 | transcript | ENST00000263354.8 | protein_coding | 9/10 | chr19 | TogoVar |