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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MACROD2_chr20_13990516_16058197 | 15007007 | T | TAAAAAAA others(303): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 24 | 0.0417 | 310 | c.419 others(331): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MAP3K21_chr1_233322724_233390148 | 233383384 | T | TAAAAGCT others(303): Show |
3_prime_UTR_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0054 | a0002c0002t0054g0118 | 1 | 372 | 0.0027 | 310 | c.*68 others(319): Show |
MAP3K21 | ENSG00000143674.11 | transcript | ENST00000366624.8 | protein_coding | 10/10 | 688 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
MARCHF1_chr4_163519718_164389019 | 163894908 | T | TATATATA others(303): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0075 | 1 | 102 | 0.0098 | 310 | c.-38 others(329): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
MARK1_chr1_220523136_220669461 | 220576003 | C | CCCTCCCT others(303): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 298 | 0.0034 | 310 | c.52- others(325): Show |
MARK1 | ENSG00000116141.17 | transcript | ENST00000366917.6 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
MARK1_chr1_220523136_220669461 | 220576004 | T | TCTCCCTC others(303): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 298 | 0.0034 | 310 | c.52- others(325): Show |
MARK1 | ENSG00000116141.17 | transcript | ENST00000366917.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MARK1_chr1_220523136_220669461 | 220576004 | T | TCTCCCTC others(303): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(103): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0151others(101): Show | 106 | 298 | 0.3557 | 310 | c.52- others(325): Show |
MARK1 | ENSG00000116141.17 | transcript | ENST00000366917.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MARK1_chr1_220523136_220669461 | 220576004 | T | TCTCCCTC others(303): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0243a0001c0001t0005g0244a0001c0001t0005g0245 | 3 | 298 | 0.0101 | 310 | c.52- others(325): Show |
MARK1 | ENSG00000116141.17 | transcript | ENST00000366917.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MARK1_chr1_220523136_220669461 | 220576004 | T | TCTCCCTC others(303): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01517.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036a0001c0001t0001g0128a0001c0001t0001g0129others(17): Show | 20 | 298 | 0.0671 | 310 | c.52- others(325): Show |
MARK1 | ENSG00000116141.17 | transcript | ENST00000366917.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 66721537 | T | TCCTTGAC others(303): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0045 | 1 | 108 | 0.0093 | 310 | c.364 others(329): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MBNL3_chrX_132364320_132494038 | 132396679 | T | TATATATA others(303): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0036 | 1 | 191 | 0.0052 | 310 | c.343 others(327): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396679 | T | TATATATA others(303): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0044 | 1 | 191 | 0.0052 | 310 | c.343 others(327): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATATA others(303): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0165 | 1 | 191 | 0.0052 | 310 | c.343 others(327): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77130404 | T | TGAAGATA others(303): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02071.hp1 HG02451.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0028a0003c0004t0013others(1): Show | a0001c0001t0001g0139a0001c0002t0028g0386a0003c0004t0013g0138others(2): Show | 5 | 396 | 0.0126 | 310 | c.-26 others(327): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169167961 | T | TAAAACAT others(303): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 160 | 0.0063 | 310 | c.376 others(329): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169167966 | C | CATTCTTG others(303): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0118 | 1 | 160 | 0.0063 | 310 | c.376 others(329): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77654537 | T | TAAAAAAT others(303): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0224a0001c0001t0014g0225 | 2 | 360 | 0.0056 | 310 | c.-15 others(327): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MELK_chr9_36567895_36682682 | 36645304 | T | TGAAAAAG others(303): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0192 | 1 | 242 | 0.0041 | 310 | c.921 others(327): Show |
MELK | ENSG00000165304.8 | transcript | ENST00000298048.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
METTL24_chr6_110238940_110363349 | 110305537 | C | CAAAAGAA others(303): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02258.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0012a0001c0002t0008 | a0001c0001t0008g0190a0001c0001t0012g0201a0001c0002t0008g0040 | 3 | 268 | 0.0112 | 310 | c.558 others(327): Show |
METTL24 | ENSG00000053328.9 | transcript | ENST00000338882.5 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
METTL2B_chr7_128471748_128511602 | 128510773 | A | AAATGTAT others(303): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 HG02129.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0004a0002c0013 | a0001c0002t0007a0002c0004t0001a0002c0004t0024others(1): Show | a0001c0002t0007g0004a0002c0004t0001g0042a0002c0004t0001g0043others(2): Show | 5 | 406 | 0.0123 | 310 | c.*88 others(321): Show |
METTL2B | ENSG00000165055.16 | transcript | ENST00000262432.13 | protein_coding | 4172 | chr7 | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(303): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 181 | 0.0055 | 310 | c.107 others(329): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MIOS_chr7_7561884_7613932 | 7575908 | T | TTTGTTTC others(303): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02293.hp1 |
a0001 | a0001c0009 | a0001c0009t0011 | a0001c0009t0011g0016 | 2 | 330 | 0.0061 | 310 | c.139 others(329): Show |
MIOS | ENSG00000164654.16 | transcript | ENST00000340080.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MPC1_chr6_166359919_166387940 | 166360865 | G | GAGAAATG others(303): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 330 | 0.0030 | 310 | c.*45 others(321): Show |
MPC1 | ENSG00000060762.20 | transcript | ENST00000360961.11 | protein_coding | 4053 | chr6 | TogoVar | ||||||
MRPS23_chr17_57829781_57855044 | 57848854 | C | CAAGAAGT others(303): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01106.hp1 HG01192.hp2 others(28): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0015a0001c0001t0016others(12): Show | a0001c0001t0008g0019a0001c0001t0008g0051a0001c0001t0008g0240others(21): Show | 31 | 396 | 0.0783 | 310 | c.215 others(325): Show |
MRPS23 | ENSG00000181610.13 | transcript | ENST00000313608.13 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(303): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02965.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0250a0001c0002t0001g0114a0001c0009t0001g0087others(2): Show | 5 | 256 | 0.0195 | 310 | c.241 others(329): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MS4A4E_chr11_60195270_60248137 | 60206479 | A | ATATATAT others(303): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0004 | a0004c0005 | a0004c0005t0047 | a0004c0005t0047g0190 | 1 | 410 | 0.0024 | 310 | c.484 others(325): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
MTPAP_chr10_30304801_30354278 | 30325833 | T | TCCCACCC others(303): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0216 | 1 | 358 | 0.0028 | 310 | c.992 others(325): Show |
MTPAP | ENSG00000107951.15 | transcript | ENST00000263063.9 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
MTRR_chr5_7864148_7906113 | 7864812 | G | GAAAAAAA others(303): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02630.hp2 others(2): Show |
a0004a0010a0013 | a0004c0018a0010c0013a0013c0017 | a0004c0018t0004a0010c0013t0004a0013c0017t0009 | a0004c0018t0004g0290a0004c0018t0004g0291a0010c0013t0004g0052others(2): Show | 5 | 428 | 0.0117 | 310 | c.-44 others(321): Show |
MTRR | ENSG00000124275.15 | transcript | ENST00000440940.7 | protein_coding | 4335 | chr5 | TogoVar | ||||||
MTRR_chr5_7864148_7906113 | 7864812 | G | GAAAAAAA others(303): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0011 | a0011c0012 | a0011c0012t0005 | a0011c0012t0005g0292 | 1 | 428 | 0.0023 | 310 | c.-44 others(321): Show |
MTRR | ENSG00000124275.15 | transcript | ENST00000440940.7 | protein_coding | 4335 | chr5 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110808955 | T | TCTGACTT others(303): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0152 | 1 | 326 | 0.0031 | 310 | c.*79 others(321): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 2398 | chr9 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3326182 | T | TTTATAAT others(303): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0032 | a0032c0036 | a0032c0036t0007 | a0032c0036t0007g0158 | 1 | 284 | 0.0035 | 310 | c.710 others(327): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | ||||||
MYL2_chr12_110905845_110925579 | 110906009 | A | AAAATATA others(303): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 310 | c.*50 others(321): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4835 | chr12 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169771186 | A | TTTATATT others(303): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 350 | 0.0029 | 310 | c.-23 others(321): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2210 | chr3 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16716504 | T | TAAGAAGT others(303): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0002 | a0002c0002t0085 | a0002c0002t0085g0139 | 1 | 272 | 0.0037 | 310 | c.193 others(329): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 19/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16716504 | T | TAAGAAGT others(303): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0071 | a0002c0002t0071g0206 | 1 | 272 | 0.0037 | 310 | c.193 others(329): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 19/40 | chr5 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16716504 | T | TAAGAAGT others(303): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(121): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0003a0001c0015others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(110): Show | a0001c0001t0001g0099a0001c0001t0001g0104a0001c0001t0001g0105others(121): Show | 124 | 272 | 0.4559 | 310 | c.193 others(329): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 19/40 | chr5 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32566830 | T | TTTAAGCT others(303): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0122a0001c0001t0009g0044 | 2 | 244 | 0.0082 | 310 | c.286 others(331): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175697904 | T | TATATGTG others(303): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0034 | 1 | 64 | 0.0156 | 310 | c.189 others(331): 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(303): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0308 | 1 | 348 | 0.0029 | 310 | c.887 others(327): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136023108 | G | GGAGGGAG others(303): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0325 | 1 | 348 | 0.0029 | 310 | c.887 others(327): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
NDUFA9_chr12_4644114_4699317 | 4661708 | A | ACTAGAGT others(303): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164a0001c0001t0002g0170a0001c0001t0002g0191 | 3 | 362 | 0.0083 | 310 | c.553 others(325): Show |
NDUFA9 | ENSG00000139180.11 | transcript | ENST00000266544.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NEK7_chr1_198151998_198327420 | 198274158 | T | TTCTAGTT others(303): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 346 | 0.0029 | 310 | c.373 others(327): Show |
NEK7 | ENSG00000151414.15 | transcript | ENST00000367385.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NEPRO_chr3_112997444_113024671 | 113015584 | C | CAAAACTA others(303): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG02040.hp2 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008a0002c0002t0004g0012a0002c0002t0004g0013others(3): Show | 28 | 454 | 0.0617 | 310 | c.262 others(327): Show |
NEPRO | ENSG00000163608.15 | transcript | ENST00000314400.10 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805379 | G | GCCCAGGA others(303): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027 | 1 | 319 | 0.0031 | 310 | c.-38 others(321): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3813 | chr2 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8678193 | C | CCATCCAT others(303): Show |
3_prime_UTR_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0107 | a0002c0002t0107g0228 | 1 | 366 | 0.0027 | 310 | c.*56 others(319): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 563 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
NFRKB_chr11_129858636_129900578 | 129889647 | T | TAAAGAAG others(303): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0008 | a0008c0014 | a0008c0014t0012 | a0008c0014t0012g0202 | 1 | 410 | 0.0024 | 310 | c.136 others(325): Show |
NFRKB | ENSG00000170322.15 | transcript | ENST00000682444.1 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232981166 | C | CAAAAAGT others(303): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0100 | 1 | 362 | 0.0028 | 310 | c.-74 others(327): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232981166 | C | CAAAAAGT others(303): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0349a0001c0001t0002g0293a0001c0001t0002g0310others(37): Show | 40 | 362 | 0.1105 | 310 | c.-74 others(327): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232981166 | C | CAAAAAGT others(303): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02559.hp2 others(1): Show |
a0002 | a0002c0009a0002c0010 | a0002c0009t0002a0002c0010t0001 | a0002c0009t0002g0253a0002c0009t0002g0254a0002c0009t0002g0255others(1): Show | 4 | 362 | 0.0111 | 310 | c.-74 others(327): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NHEJ1_chr2_219064357_219165815 | 219080668 | T | TATATATA others(303): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0140a0001c0001t0008g0141a0001c0001t0008g0142others(2): Show | 5 | 350 | 0.0143 | 310 | c.589 others(327): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 5/7 | chr2 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62431910 | T | TAAACTAT others(303): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02896.hp1 HG02976.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0082a0001c0002t0094a0002c0003t0103 | a0001c0001t0082g0078a0001c0002t0094g0079a0002c0003t0103g0077 | 3 | 144 | 0.0208 | 310 | c.55- others(329): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |