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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NASP_chr1_45579041_45623893 | 45586239 | C | CGTGTGTG others(29): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0282 | 1 | 300 | 0.0033 | 36 | c.59+ others(51): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NASP_chr1_45579041_45623893 | 45587687 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19000.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0090a0002c0004t0001g0185 | 2 | 300 | 0.0067 | 36 | c.59+ others(51): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201642525 | T | TTTTCTTT others(29): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG01257.hp1 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0074others(5): Show | a0001c0001t0004g0084a0001c0001t0018g0022a0001c0001t0074g0090others(5): Show | 8 | 210 | 0.0381 | 36 | c.827 others(53): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201690190 | G | GCTATTTC others(29): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02055.hp2 NA18983.hp1 others(1): Show |
a0001a0010 | a0001c0001a0010c0018 | a0001c0001t0004a0001c0001t0018a0010c0018t0026 | a0001c0001t0004g0040a0001c0001t0018g0022a0001c0001t0018g0023others(1): Show | 4 | 210 | 0.0191 | 36 | c.161 others(57): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201734493 | G | GAGAAGAA others(29): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0012a0005c0005t0001 | a0002c0002t0012g0037a0005c0005t0001g0074 | 2 | 210 | 0.0095 | 36 | c.208 others(57): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201734499 | G | GAGAAGAA others(29): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 210 | 0.0048 | 36 | c.208 others(57): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19897883 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0058 | a0001c0058t0009 | a0001c0058t0009g0068 | 1 | 166 | 0.0060 | 36 | c.931 others(53): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19897886 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0010 | a0010c0038 | a0010c0038t0002 | a0010c0038t0002g0054 | 1 | 166 | 0.0060 | 36 | c.931 others(53): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV3_chr12_77825894_78218010 | 78117300 | A | ATAAATAT others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(144): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(117): Show | a0001c0001t0001g0017a0001c0001t0001g0048a0001c0001t0001g0125others(144): Show | 147 | 186 | 0.7903 | 36 | c.276 others(53): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NBAS_chr2_15161916_15566334 | 15371321 | T | TTCTTTAT others(29): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0029 | a0029c0025 | a0029c0025t0001 | a0029c0025t0001g0003 | 1 | 224 | 0.0045 | 36 | c.370 others(55): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 31/51 | chr2 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148112152 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0000 | a0000c0039 | a0000c0039t0017 | a0000c0039t0017g0285 | 1 | 388 | 0.0026 | 36 | c.163 others(55): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 15/23 | chr1 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148142042 | A | AAGGCAGG others(29): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02055.hp1 HG03195.hp2 others(1): Show |
a0000 | a0000c0013 | a0000c0013t0010 | a0000c0013t0010g0287a0000c0013t0010g0288a0000c0013t0010g0289others(1): Show | 4 | 388 | 0.0103 | 36 | c.-27 others(55): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 2/23 | chr1 | TogoVar | ||||||
NBPF15_chr1_144416390_144466669 | 144463598 | C | CAAAAAAA others(29): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 NA18973.hp2 NA18999.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215a0001c0002t0001g0220a0001c0002t0001g0308others(1): Show | 4 | 394 | 0.0102 | 36 | c.-31 others(47): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 1930 | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149547923 | C | CTCTCTGT others(29): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0194 | a0194c0058 | a0194c0058t0002 | a0194c0058t0002g0235 | 1 | 276 | 0.0036 | 36 | c.102 others(55): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 85/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NCAM1_chr11_112956420_113283436 | 113173591 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0028 | a0001c0001t0025g0053a0001c0001t0025g0054a0001c0001t0028g0207 | 3 | 242 | 0.0124 | 36 | c.53- others(53): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NCAM1_chr11_112956420_113283436 | 113185079 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0105 | 1 | 242 | 0.0041 | 36 | c.53- others(53): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NCAM1_chr11_112956420_113283436 | 113185079 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0226 | 1 | 242 | 0.0041 | 36 | c.53- others(53): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NCAM1_chr11_112956420_113283436 | 113185079 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 242 | 0.0041 | 36 | c.53- others(53): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NCAM2_chr21_20993409_21548329 | 21265447 | C | CACATATA others(29): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0017a0001c0001t0001g0032a0001c0001t0001g0037others(42): Show | 45 | 132 | 0.3409 | 36 | c.56- others(53): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
NCAM2_chr21_20993409_21548329 | 21430394 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01934.hp2 HG02523.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0037a0002c0002t0001g0036a0002c0002t0003g0081others(1): Show | 4 | 132 | 0.0303 | 36 | c.148 others(55): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
NCF4_chr22_36856006_36883015 | 36873031 | A | ATTGGAGG others(29): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 434 | 0.0023 | 36 | c.627 others(51): Show |
NCF4 | ENSG00000100365.16 | transcript | ENST00000248899.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NCK1_chr3_136857208_136956606 | 136893167 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02818.hp1 HG02965.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0197a0002c0002t0002g0198a0002c0002t0002g0199 | 3 | 232 | 0.0129 | 36 | c.-19 others(55): Show |
NCK1 | ENSG00000158092.7 | transcript | ENST00000481752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NCK2_chr2_105739912_105899272 | 105835393 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02080.hp1 HG02738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0140a0001c0001t0003g0188a0001c0001t0003g0215others(6): Show | 9 | 334 | 0.0270 | 36 | c.-17 others(55): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NCKAP1_chr2_182904115_183043457 | 182912849 | A | AAAGGAAG others(29): Show |
3_prime_UTR_variant | MODIFIER | HG03942.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0138a0001c0001t0029g0187 | 2 | 218 | 0.0092 | 36 | c.*12 others(49): Show |
NCKAP1 | ENSG00000061676.16 | transcript | ENST00000361354.9 | protein_coding | 31/31 | 12852 | chr2 | TogoVar | |||||
NCKAP1_chr2_182904115_183043457 | 182984423 | G | GGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0038 | a0001c0004t0038g0004 | 1 | 218 | 0.0046 | 36 | c.100 others(55): Show |
NCKAP1 | ENSG00000061676.16 | transcript | ENST00000361354.9 | protein_coding | 10/30 | chr2 | TogoVar | ||||||
NCKAP5_chr2_132666788_133573463 | 133492144 | A | AGTGTGTG others(29): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0064 | 1 | 70 | 0.0143 | 36 | c.69+ others(53): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 3/19 | chr2 | TogoVar | ||||||
NCMAP_chr1_24551087_24614328 | 24573952 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 402 | 0.0025 | 36 | c.-8+ others(53): Show |
NCMAP | ENSG00000184454.7 | transcript | ENST00000374392.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NCOA2_chr8_70104782_70408808 | 70133200 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0073 | 1 | 322 | 0.0031 | 36 | c.315 others(55): Show |
NCOA2 | ENSG00000140396.13 | transcript | ENST00000452400.7 | protein_coding | 15/22 | chr8 | TogoVar | ||||||
NCOA2_chr8_70104782_70408808 | 70159236 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01258.hp2 HG04228.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0181a0001c0001t0002g0001a0001c0001t0002g0096others(1): Show | 4 | 322 | 0.0124 | 36 | c.112 others(53): Show |
NCOA2 | ENSG00000140396.13 | transcript | ENST00000452400.7 | protein_coding | 10/22 | chr8 | TogoVar | ||||||
NCOA3_chr20_47496887_47661872 | 47522099 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0086 | 1 | 316 | 0.0032 | 36 | c.-99 others(55): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NCOA6_chr20_34709774_34830651 | 34751376 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032a0001c0001t0002g0039 | 2 | 290 | 0.0069 | 36 | c.167 others(53): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 8/14 | chr20 | TogoVar | ||||||
NCOR1_chr17_16024157_16220534 | 16077509 | A | AGAGGGGA others(29): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0163 | 1 | 282 | 0.0036 | 36 | c.350 others(55): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 26/45 | chr17 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124428044 | A | AGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02165.hp2 NA19085.hp2 |
a0001a0002a0004 | a0001c0023a0002c0001a0004c0054 | a0001c0023t0004a0002c0001t0015a0004c0054t0023 | a0001c0023t0004g0051a0002c0001t0015g0180a0004c0054t0023g0202 | 3 | 234 | 0.0128 | 36 | c.115 others(55): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 12/48 | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124467515 | C | CTCATCCT others(29): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(116): Show |
a0001a0002a0003others(32): Show | a0001c0003a0001c0005a0001c0009others(80): Show | a0001c0003t0012a0001c0003t0016a0001c0005t0009others(104): Show | a0001c0003t0012g0069a0001c0003t0012g0105a0001c0003t0016g0021others(116): Show | 119 | 234 | 0.5086 | 36 | c.592 others(53): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 6/48 | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124467515 | C | CTCATCCT others(29): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03453.hp2 HG03579.hp1 others(1): Show |
a0002a0017a0031others(1): Show | a0002c0001a0017c0084a0031c0109others(1): Show | a0002c0001t0080a0017c0084t0003a0031c0109t0001others(1): Show | a0002c0001t0080g0232a0017c0084t0003g0121a0031c0109t0001g0205others(1): Show | 4 | 234 | 0.0171 | 36 | c.592 others(53): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 6/48 | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124467515 | C | CTCATCCT others(29): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(82): Show |
a0001a0002a0003others(26): Show | a0001c0003a0001c0005a0001c0013others(68): Show | a0001c0003t0012a0001c0005t0002a0001c0005t0003others(81): Show | a0001c0003t0012g0045a0001c0005t0002g0099a0001c0005t0002g0100others(82): Show | 85 | 234 | 0.3633 | 36 | c.592 others(53): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 6/48 | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124468847 | C | CTCATCAC others(29): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02572.hp1 others(3): Show |
a0002a0007a0017others(3): Show | a0002c0001a0007c0126a0017c0084others(3): Show | a0002c0001t0080a0007c0126t0001a0017c0084t0003others(3): Show | a0002c0001t0080g0232a0007c0126t0001g0107a0017c0084t0003g0121others(3): Show | 6 | 234 | 0.0256 | 36 | c.592 others(53): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 6/48 | chr12 | TogoVar | ||||||
NCS1_chr9_130167404_130242303 | 130176138 | T | TTTTCTTT others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0087 | a0001c0002t0087g0072 | 1 | 348 | 0.0029 | 36 | c.64+ others(51): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NDC80_chr18_2566557_2621635 | 2603356 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01192.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030a0002c0002t0001g0031a0002c0002t0001g0356others(2): Show | 5 | 402 | 0.0124 | 36 | c.146 others(55): Show |
NDC80 | ENSG00000080986.13 | transcript | ENST00000261597.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NDE1_chr16_15645245_15731353 | 15712882 | G | GTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18965.hp2 NA19004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0238a0001c0001t0002g0240a0001c0001t0002g0315others(1): Show | 4 | 367 | 0.0109 | 36 | c.948 others(55): Show |
NDE1 | ENSG00000072864.16 | transcript | ENST00000396354.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NDST4_chr4_114822763_115118620 | 115022419 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 190 | 0.0053 | 36 | c.979 others(55): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NDUFA11_chr19_5889675_5908790 | 5907610 | T | TAAAAAAA others(29): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 364 | 0.0028 | 36 | c.-39 others(47): Show |
NDUFA11 | ENSG00000174886.14 | transcript | ENST00000308961.5 | protein_coding | 3821 | chr19 | TogoVar | ||||||
NDUFA3_chr19_54097855_54112568 | 54101538 | T | TCAGATAG others(29): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00673.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(6): Show | 19 | 439 | 0.0433 | 36 | c.-13 others(47): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 1316 | chr19 | TogoVar | ||||||
NDUFA3_chr19_54097855_54112568 | 54101538 | T | TTAGATAG others(29): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01123.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0014others(4): Show | 9 | 439 | 0.0205 | 36 | c.-13 others(47): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 1316 | chr19 | TogoVar | ||||||
NDUFAF2_chr5_60940205_61158026 | 61136005 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02451.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0035a0001c0001t0001g0239a0001c0002t0001g0152others(1): Show | 4 | 266 | 0.0150 | 36 | c.259 others(55): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NDUFAF5_chr20_13780028_13826580 | 13780648 | G | GCTATCAA others(29): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 416 | 0.0024 | 36 | c.-44 others(47): Show |
NDUFAF5 | ENSG00000101247.18 | transcript | ENST00000378106.10 | protein_coding | 4379 | chr20 | TogoVar | ||||||
NDUFB5_chr3_179599794_179632647 | 179624572 | T | TACACACA others(29): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0061 | a0001c0001t0026g0013a0001c0001t0061g0097 | 4 | 366 | 0.0109 | 36 | c.*56 others(45): Show |
NDUFB5 | ENSG00000136521.13 | transcript | ENST00000259037.8 | protein_coding | 6/6 | 565 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
NDUFC2_chr11_78063297_78084862 | 78078728 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0104a0001c0001t0001g0105others(1): Show | 6 | 420 | 0.0143 | 36 | c.166 others(51): Show |
NDUFC2 | ENSG00000151366.13 | transcript | ENST00000281031.5 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
NDUFS5_chr1_39021350_39039615 | 39024918 | T | TTATATAT others(29): Show |
upstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 438 | 0.0023 | 36 | c.-14 others(47): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 1431 | chr1 | TogoVar | ||||||
NDUFS5_chr1_39021350_39039615 | 39024930 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 438 | 0.0023 | 36 | c.-14 others(47): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 1419 | chr1 | TogoVar |