| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NDRG4_chr16_58495143_58518619 | 58516124 | T | TGGGGCGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02735.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0008 | a0001c0001t0005g0009a0001c0004t0008g0106 | 2 | 426 | 0.0047 | 20 | c.*45 others(31): Show |
NDRG4 | ENSG00000103034.15 | transcript | ENST00000570248.6 | protein_coding | 2506 | chr16 | TogoVar | ||||||
| NDST3_chr4_118029486_118263634 | 118235048 | G | GGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02630.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0121a0001c0001t0001g0176a0001c0002t0001g0002 | 3 | 216 | 0.0139 | 20 | c.194 others(39): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NDST4_chr4_114822763_115118620 | 114929113 | C | CATCCATC others(13): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 190 | 0.0053 | 20 | c.153 others(39): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
| NDST4_chr4_114822763_115118620 | 114986793 | C | CATACATA others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03704.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031a0001c0002t0001g0046 | 2 | 190 | 0.0105 | 20 | c.979 others(37): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| NDST4_chr4_114822763_115118620 | 114986832 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 190 | 0.0053 | 20 | c.979 others(37): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| NDST4_chr4_114822763_115118620 | 114986832 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 190 | 0.0053 | 20 | c.979 others(37): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| NDST4_chr4_114822763_115118620 | 114986832 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03710.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016a0001c0002t0001g0018 | 2 | 190 | 0.0105 | 20 | c.979 others(37): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| NDST4_chr4_114822763_115118620 | 115013346 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181 | 1 | 190 | 0.0053 | 20 | c.979 others(39): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| NDST4_chr4_114822763_115118620 | 115013370 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02132.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038a0001c0002t0001g0078 | 2 | 190 | 0.0105 | 20 | c.979 others(39): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| NDST4_chr4_114822763_115118620 | 115013370 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02148.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0022a0001c0001t0001g0058others(8): Show | 11 | 190 | 0.0579 | 20 | c.979 others(39): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| NDUFA10_chr2_239952372_240030342 | 239967977 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0304a0001c0001t0006g0305 | 2 | 412 | 0.0049 | 20 | c.100 others(39): Show |
NDUFA10 | ENSG00000130414.13 | transcript | ENST00000252711.7 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
| NDUFA11_chr19_5889675_5908790 | 5907610 | T | TAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01515.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0013others(3): Show | 6 | 364 | 0.0165 | 20 | c.-39 others(31): Show |
NDUFA11 | ENSG00000174886.14 | transcript | ENST00000308961.5 | protein_coding | 3821 | chr19 | TogoVar | ||||||
| NDUFA12_chr12_94966333_95008697 | 94985002 | C | CATAACAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0022others(88): Show | 106 | 442 | 0.2398 | 20 | c.257 others(37): Show |
NDUFA12 | ENSG00000184752.14 | transcript | ENST00000327772.7 | protein_coding | 3/3 | chr12 | TogoVar | ||||||
| NDUFA13_chr19_19511225_19533198 | 19531718 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 380 | 0.0026 | 20 | c.*35 others(31): Show |
NDUFA13 | ENSG00000186010.19 | transcript | ENST00000507754.9 | protein_coding | 3521 | chr19 | TogoVar | ||||||
| NDUFA2_chr5_140640285_140652630 | 140648007 | G | GGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 20 | c.-44 others(29): Show |
NDUFA2 | ENSG00000131495.9 | transcript | ENST00000252102.9 | protein_coding | 378 | chr5 | TogoVar | ||||||
| NDUFA3_chr19_54097855_54112568 | 54099244 | T | TTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01952.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(4): Show | 10 | 439 | 0.0228 | 20 | c.-36 others(31): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 3610 | chr19 | TogoVar | ||||||
| NDUFA3_chr19_54097855_54112568 | 54101328 | G | GGATAGAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 HG03017.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0054others(1): Show | 4 | 439 | 0.0091 | 20 | c.-15 others(31): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 1526 | chr19 | TogoVar | ||||||
| NDUFA3_chr19_54097855_54112568 | 54101538 | T | TTAGATAG others(13): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG02965.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0025a0001c0002t0001g0010a0001c0002t0001g0016others(2): Show | 5 | 439 | 0.0114 | 20 | c.-13 others(31): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 1316 | chr19 | TogoVar | ||||||
| NDUFA3_chr19_54097855_54112568 | 54105264 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 439 | 0.0023 | 20 | c.86- others(33): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NDUFA4_chr7_10926943_10945153 | 10929868 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 450 | 0.0022 | 20 | c.*37 others(31): Show |
NDUFA4 | ENSG00000189043.10 | transcript | ENST00000339600.6 | protein_coding | 2074 | chr7 | TogoVar | ||||||
| NDUFA5_chr7_123531997_123562818 | 123540890 | G | GCGCGCGC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0271 | 1 | 414 | 0.0024 | 20 | c.*12 others(31): Show |
NDUFA5 | ENSG00000128609.16 | transcript | ENST00000355749.7 | protein_coding | 5/5 | 1228 | chr7 | TogoVar | |||||
| NDUFA6_chr22_42080526_42095772 | 42089327 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0054a0002c0002t0001g0089 | 2 | 403 | 0.0050 | 20 | c.139 others(37): Show |
NDUFA6 | ENSG00000184983.11 | transcript | ENST00000498737.8 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
| NDUFAB1_chr16_23576014_23601316 | 23584255 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18942.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0179a0001c0001t0001g0197 | 3 | 360 | 0.0083 | 20 | c.379 others(37): Show |
NDUFAB1 | ENSG00000004779.10 | transcript | ENST00000007516.8 | protein_coding | 3/4 | chr16 | TogoVar | ||||||
| NDUFAF2_chr5_60940205_61158026 | 61056919 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 266 | 0.0038 | 20 | c.128 others(39): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NDUFAF2_chr5_60940205_61158026 | 61107046 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0128 | 2 | 266 | 0.0075 | 20 | c.258 others(37): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NDUFAF2_chr5_60940205_61158026 | 61107090 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 266 | 0.0038 | 20 | c.258 others(37): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NDUFAF2_chr5_60940205_61158026 | 61136003 | C | CTCTATAT others(13): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 266 | 0.0038 | 20 | c.259 others(39): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NDUFAF2_chr5_60940205_61158026 | 61136005 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0033a0001c0001t0001g0242a0001c0001t0001g0247others(5): Show | 8 | 266 | 0.0301 | 20 | c.259 others(39): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NDUFAF2_chr5_60940205_61158026 | 61136039 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 266 | 0.0038 | 20 | c.259 others(39): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NDUFAF6_chr8_95019989_95063710 | 95046061 | A | ATTTTATT others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0048 | 1 | 336 | 0.0030 | 20 | c.580 others(35): Show |
NDUFAF6 | ENSG00000156170.14 | transcript | ENST00000396124.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NDUFAF7_chr2_37226658_37254160 | 37235639 | C | CTTATTTA others(13): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02300.hp1 NA18980.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0021a0001c0001t0003g0107a0003c0003t0003g0021 | 5 | 432 | 0.0116 | 20 | c.217 others(35): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NDUFAF7_chr2_37226658_37254160 | 37249558 | G | GACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 432 | 0.0023 | 20 | c.*12 others(31): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 399 | chr2 | TogoVar | ||||||
| NDUFAF7_chr2_37226658_37254160 | 37249643 | G | GACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01257.hp1 HG01978.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0003 | a0001c0001t0001g0062a0001c0001t0001g0064a0001c0001t0001g0110others(8): Show | 20 | 432 | 0.0463 | 20 | c.*12 others(31): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 484 | chr2 | TogoVar | ||||||
| NDUFAF7_chr2_37226658_37254160 | 37249643 | G | GACAGACA others(13): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008 | 1 | 432 | 0.0023 | 20 | c.*12 others(31): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 484 | chr2 | TogoVar | ||||||
| NDUFB2_chr7_140691708_140711643 | 140706031 | T | TTGTTATG others(13): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02257.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0054a0001c0001t0001g0111 | 11 | 306 | 0.0360 | 20 | c.*30 others(35): Show |
NDUFB2 | ENSG00000090266.13 | transcript | ENST00000247866.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NDUFB3_chr2_201067001_201090750 | 201076512 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 332 | 0.0030 | 20 | c.-2- others(35): Show |
NDUFB3 | ENSG00000119013.10 | transcript | ENST00000237889.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NDUFB5_chr3_179599794_179632647 | 179624572 | T | TACACACA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG02027.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0041others(1): Show | a0001c0001t0011g0001a0001c0001t0011g0010a0001c0001t0011g0020others(6): Show | 14 | 366 | 0.0383 | 20 | c.*54 others(29): Show |
NDUFB5 | ENSG00000136521.13 | transcript | ENST00000259037.8 | protein_coding | 6/6 | 565 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| NDUFB6_chr9_32548001_32578159 | 32563491 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0062 | 1 | 378 | 0.0027 | 20 | c.274 others(37): Show |
NDUFB6 | ENSG00000165264.11 | transcript | ENST00000379847.8 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
| NDUFC2_chr11_78063297_78084862 | 78078728 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02055.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0130a0001c0001t0003g0153a0001c0001t0003g0156others(4): Show | 7 | 420 | 0.0167 | 20 | c.166 others(35): Show |
NDUFC2 | ENSG00000151366.13 | transcript | ENST00000281031.5 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
| NDUFS1_chr2_206109817_206164444 | 206140941 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0077 | a0001c0003t0077g0177 | 1 | 336 | 0.0030 | 20 | c.126 others(38): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
| NDUFS1_chr2_206109817_206164444 | 206140943 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02293.hp2 HG03540.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0012a0001c0002t0016others(1): Show | a0001c0002t0010g0223a0001c0002t0012g0181a0001c0002t0012g0190others(4): Show | 9 | 336 | 0.0268 | 20 | c.126 others(37): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
| NDUFS1_chr2_206109817_206164444 | 206140943 | T | TATATACA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00621.hp1 others(25): Show |
a0001a0004 | a0001c0002a0001c0011a0004c0012 | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(8): Show | a0001c0002t0003g0189a0001c0002t0003g0204a0001c0002t0003g0210others(25): Show | 28 | 336 | 0.0833 | 20 | c.126 others(37): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
| NDUFS1_chr2_206109817_206164444 | 206140943 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03834.hp1 HG03927.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0205a0001c0002t0003g0207a0001c0002t0003g0213others(2): Show | 5 | 336 | 0.0149 | 20 | c.126 others(37): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
| NDUFS1_chr2_206109817_206164444 | 206140943 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 HG04228.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0265a0001c0003t0005g0273 | 2 | 336 | 0.0060 | 20 | c.126 others(37): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
| NDUFS1_chr2_206109817_206164444 | 206140943 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG01943.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0023a0001c0003t0005g0024a0001c0003t0005g0269 | 5 | 336 | 0.0149 | 20 | c.126 others(37): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
| NDUFS1_chr2_206109817_206164444 | 206150023 | T | TTCTATCT others(13): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0006a0001c0002t0016a0001c0003t0027others(2): Show | a0001c0002t0006g0240a0001c0002t0006g0259a0001c0002t0016g0241others(4): Show | 7 | 336 | 0.0208 | 20 | c.154 others(34): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 3/18 | chr2 | TogoVar | ||||||
| NDUFS4_chr5_53555639_53688338 | 53635212 | T | TAAATAAA others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0372 | 1 | 378 | 0.0027 | 20 | c.178 others(39): Show |
NDUFS4 | ENSG00000164258.12 | transcript | ENST00000296684.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NDUFS5_chr1_39021350_39039615 | 39035181 | T | TCAAGATA others(13): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 438 | 0.0023 | 20 | c.*68 others(29): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 567 | chr1 | TogoVar | ||||||
| NDUFS6_chr5_1796407_1821048 | 1807160 | T | TACTCAGA others(13): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 444 | 0.0023 | 20 | c.186 others(37): Show |
NDUFS6 | ENSG00000145494.12 | transcript | ENST00000274137.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NEBL_chr10_20774973_20902311 | 20896483 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02056.hp2 HG02273.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0026a0003c0004t0002others(1): Show | a0001c0001t0001g0011a0002c0002t0026g0010a0003c0004t0002g0012others(1): Show | 4 | 338 | 0.0118 | 20 | c.153 others(35): Show |
NEBL | ENSG00000078114.19 | transcript | ENST00000377122.9 | protein_coding | 2/27 | chr10 | TogoVar |