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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MICAL3_chr22_17782649_18029561 | 18028746 | T | TAAAGAGT others(304): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0012 | a0012c0027 | a0012c0027t0035 | a0012c0027t0035g0272 | 1 | 274 | 0.0037 | 311 | c.-45 others(322): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 4186 | chr22 | TogoVar | |||||||
MOGAT1_chr2_222666658_222714930 | 222680442 | T | TAAAAGCA others(304): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 318 | 0.0031 | 311 | c.95- others(326): Show |
MOGAT1 | ENSG00000124003.13 | transcript | ENST00000446656.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPC1_chr6_166359919_166387940 | 166360865 | G | GAGAAATG others(304): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02922.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0125 others(1): Show |
5 | 330 | 0.0152 | 311 | c.*45 others(322): Show |
MPC1 | ENSG00000060762.20 | transcript | ENST00000360961.11 | protein_coding | 4053 | chr6 | TogoVar | |||||||
MRPS35_chr12_27705832_27761295 | 27711862 | A | AATAATTG others(304): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 358 | 0.0028 | 311 | c.112 others(326): Show |
MRPS35 | ENSG00000061794.13 | transcript | ENST00000081029.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(304): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0224 | 1 | 256 | 0.0039 | 311 | c.241 others(330): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(304): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18951.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0170 a0001c0003t0001g0198 |
2 | 256 | 0.0078 | 311 | c.241 others(330): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(304): Show |
intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0091 a0001c0008t0001g0092 a0001c0008t0001g0094 others(1): Show |
4 | 256 | 0.0156 | 311 | c.241 others(330): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10275081 | T | TGAGAATA others(304): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 a0001c0001t0004g0081 |
2 | 286 | 0.0070 | 311 | c.332 others(330): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTPAP_chr10_30304801_30354278 | 30325833 | T | TCCCACCC others(304): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(94): Show |
a0001a0007a0008 | a0001c0001a0001c0008a0007c0005others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(13): Show | a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0028 others(80): Show |
97 | 358 | 0.2710 | 311 | c.992 others(326): Show |
MTPAP | ENSG00000107951.15 | transcript | ENST00000263063.9 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
MUC22_chr6_31005474_31040402 | 31013129 | C | CTTTTTTT others(304): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0127 | a0127c0162 | a0127c0162t0001 | a0127c0162t0001g0178 | 1 | 461 | 0.0022 | 311 | c.70+ others(326): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663691 | G | GTCCTCAT others(304): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0101 | 1 | 410 | 0.0024 | 311 | c.287 others(328): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110905917 | A | AAATATAT others(304): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 368 | 0.0027 | 311 | c.*51 others(322): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4927 | chr12 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(304): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18979.hp1 NA18984.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0345 a0001c0001t0001g0368 a0002c0002t0001g0246 |
3 | 384 | 0.0078 | 311 | c.160 others(328): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(304): Show |
intron_variant | MODIFIER | HG01361.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0027 a0001c0001t0010g0025 |
2 | 384 | 0.0052 | 311 | c.160 others(328): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16716504 | T | TAAGAAGT others(304): Show |
intron_variant | MODIFIER | NA18970.hp2 NA20300.hp1 NA21309.hp1 |
a0002a0003a0006 | a0002c0008a0003c0006a0006c0009 | a0002c0008t0019a0003c0006t0006a0006c0009t0004 | a0002c0008t0019g0125 a0003c0006t0006g0080 a0006c0009t0004g0045 |
3 | 272 | 0.0110 | 311 | c.193 others(330): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 19/40 | chr5 | TogoVar | |||||||
MYO1D_chr17_32487522_32882124 | 32566830 | T | TTTAAGCT others(304): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 others(25): Show |
28 | 244 | 0.1148 | 311 | c.286 others(332): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
MYOZ2_chr4_119130832_119192789 | 119150496 | T | TAAAAATG others(304): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 394 | 0.0025 | 311 | c.77- others(324): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA16_chr13_41306267_41382030 | 41327735 | T | TGTTTAAA others(304): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0014 | a0002c0014t0005 | a0002c0014t0005g0037 | 1 | 354 | 0.0028 | 311 | c.692 others(326): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(304): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01255.hp1 |
a0002a0005a0006 | a0002c0003a0005c0006a0006c0010 | a0002c0003t0016a0005c0006t0018a0006c0010t0009 | a0002c0003t0016g0060 a0005c0006t0018g0013 a0006c0010t0009g0054 |
3 | 64 | 0.0469 | 311 | c.189 others(332): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136023108 | G | GGAGGGAG others(304): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001a0002 | a0001c0003a0001c0007a0001c0026others(1): Show | a0001c0003t0009a0001c0007t0011a0001c0007t0045others(5): Show | a0001c0003t0009g0347 a0001c0007t0011g0098 a0001c0007t0011g0099 others(7): Show |
10 | 348 | 0.0287 | 311 | c.887 others(328): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107822037 | T | TAAAATTA others(304): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02622.hp1 HG02723.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0013others(8): Show | a0001c0001t0004g0033 a0001c0001t0010g0032 a0001c0001t0010g0035 others(9): Show |
12 | 128 | 0.0938 | 311 | c.915 others(330): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NAP1L5_chr4_88690913_88702829 | 88699189 | C | CCCCCTAG others(304): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 414 | 0.0024 | 311 | c.-14 others(322): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1361 | chr4 | TogoVar | |||||||
NBAS_chr2_15161916_15566334 | 15379415 | T | TAAGAAGC others(304): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0144 | 1 | 224 | 0.0045 | 311 | c.359 others(328): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 30/51 | chr2 | TogoVar | |||||||
NDUFA9_chr12_4644114_4699317 | 4661708 | A | ACTAGAGT others(304): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00642.hp1 others(54): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0143 others(43): Show |
57 | 362 | 0.1575 | 311 | c.553 others(326): Show |
NDUFA9 | ENSG00000139180.11 | transcript | ENST00000266544.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NDUFB4_chr3_120591336_120607507 | 120600110 | T | TTTTTTTT others(304): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 424 | 0.0024 | 311 | c.181 others(326): Show |
NDUFB4 | ENSG00000065518.8 | transcript | ENST00000184266.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NDUFC1_chr4_139284931_139307477 | 139289132 | C | CAAAAAAA others(304): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 376 | 0.0027 | 311 | c.*98 others(320): Show |
NDUFC1 | ENSG00000109390.13 | transcript | ENST00000394223.2 | protein_coding | 798 | chr4 | TogoVar | |||||||
NDUFS6_chr5_1796407_1821048 | 1812526 | T | TGACTCCT others(304): Show |
intron_variant | MODIFIER | HG03834.hp2 NA18968.hp2 NA19058.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0120 |
5 | 444 | 0.0113 | 311 | c.187 others(328): Show |
NDUFS6 | ENSG00000145494.12 | transcript | ENST00000274137.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NEPRO_chr3_112997444_113024671 | 113015584 | C | CAAAACTA others(304): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0136 | 1 | 454 | 0.0022 | 311 | c.262 others(328): Show |
NEPRO | ENSG00000163608.15 | transcript | ENST00000314400.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
NEPRO_chr3_112997444_113024671 | 113015584 | C | CAAAACTA others(304): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0106 | 1 | 454 | 0.0022 | 311 | c.262 others(328): Show |
NEPRO | ENSG00000163608.15 | transcript | ENST00000314400.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(304): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0068 | 1 | 304 | 0.0033 | 311 | c.563 others(330): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(304): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0078 | 1 | 304 | 0.0033 | 311 | c.563 others(330): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(304): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02040.hp1 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0121 a0001c0001t0003g0012 a0001c0001t0007g0102 others(3): Show |
6 | 304 | 0.0197 | 311 | c.563 others(330): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232981166 | C | CAAAAAGT others(304): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03831.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0027 | a0001c0002t0003g0298 a0001c0003t0027g0016 |
2 | 362 | 0.0055 | 311 | c.-74 others(328): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993521 | C | CCCCCCCT others(304): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0099 | 1 | 350 | 0.0029 | 311 | c.*56 others(322): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4893 | chr19 | TogoVar | |||||||
NOS3_chr7_150986017_151019588 | 150995593 | C | CCCCCATC others(304): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00642.hp1 others(18): Show |
a0001a0002a0015 | a0001c0001a0002c0003a0002c0008others(3): Show | a0001c0001t0001a0002c0003t0001a0002c0008t0001others(3): Show | a0001c0001t0001g0111 a0002c0003t0001g0013 a0002c0003t0001g0064 others(17): Show |
21 | 382 | 0.0550 | 311 | c.270 others(326): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33743023 | T | TCCACTGA others(304): Show |
intron_variant | MODIFIER | HG02258.hp1 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0028a0002c0002t0055 | a0002c0002t0028g0031 a0002c0002t0055g0046 |
2 | 92 | 0.0217 | 311 | c.852 others(328): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NR3C2_chr4_148073764_148447414 | 148337309 | T | TAAAAATA others(304): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 170 | 0.0059 | 311 | c.175 others(332): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
NRG3_chr10_81870194_82992178 | 82800422 | T | TGACTTAG others(304): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 66 | 0.0152 | 311 | c.102 others(332): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(304): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03669.hp1 NA18939.hp2 others(10): Show |
a0002a0016a0022others(1): Show | a0002c0004a0002c0014a0016c0038others(2): Show | a0002c0004t0001a0002c0004t0015a0002c0014t0001others(3): Show | a0002c0004t0001g0111 a0002c0004t0001g0119 a0002c0004t0001g0120 others(10): Show |
13 | 308 | 0.0422 | 311 | c.730 others(328): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NUDCD1_chr8_109235919_109339087 | 109337068 | T | TCATTTAA others(304): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02004.hp1 HG06807.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0068 a0003c0003t0003g0189 a0003c0003t0003g0190 |
3 | 360 | 0.0083 | 311 | c.-30 others(322): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2982 | chr8 | TogoVar | |||||||
NUP160_chr11_47773118_47853350 | 47785088 | T | TGAGTTTC others(304): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03654.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 a0002c0002t0001g0119 |
2 | 338 | 0.0059 | 311 | c.374 others(326): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 32/35 | chr11 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCCCCCT others(304): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 242 | 0.0041 | 311 | c.361 others(330): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 467189 | C | CGGGTGGA others(304): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 324 | 0.0031 | 311 | c.349 others(326): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 467189 | C | CGGGTGGA others(304): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02055.hp2 HG02572.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0029 a0003c0004t0001g0081 |
3 | 324 | 0.0093 | 311 | c.349 others(326): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 467189 | C | CGGGTGGA others(304): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(98): Show |
a0001a0003a0007 | a0001c0001a0001c0005a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(34): Show |
101 | 324 | 0.3117 | 311 | c.349 others(326): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
OR10H1_chr19_15799549_15820664 | 15817125 | C | CAAAAGAA others(304): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 NA18955.hp2 NA18984.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009 | a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0127 others(2): Show |
5 | 398 | 0.0126 | 311 | c.-23 others(322): Show |
OR10H1 | ENSG00000186723.4 | transcript | ENST00000641419.1 | protein_coding | 1462 | chr19 | TogoVar | |||||||
OR5T1_chr11_56269154_56281819 | 56274110 | T | TAAGAATT others(304): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0009 | 1 | 379 | 0.0026 | 311 | c.-33 others(320): Show |
OR5T1 | ENSG00000181698.5 | transcript | ENST00000641665.1 | protein_coding | 43 | chr11 | TogoVar | |||||||
OTOF_chr2_26452203_26483124 | 26476489 | C | CCCTTCCC others(304): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0158 | 1 | 330 | 0.0030 | 311 | c.436 others(326): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
OTOF_chr2_26452203_26563756 | 26476489 | C | CCCTTCCC others(304): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0066 | 1 | 284 | 0.0035 | 311 | c.267 others(328): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 22/46 | chr2 | TogoVar | |||||||
PADI2_chr1_17061761_17124451 | 17114628 | T | TAAGAAAC others(304): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 NA19030.hp2 |
a0001 | a0001c0010a0001c0042 | a0001c0010t0007a0001c0042t0034 | a0001c0010t0007g0337 a0001c0010t0007g0339 a0001c0042t0034g0338 |
3 | 356 | 0.0084 | 311 | c.92+ others(326): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 1/15 | chr1 | TogoVar |