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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NDST4_chr4_114822763_115118620 | 115057709 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 188 | 0.0053 | -26 | c.978 others(45): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
NDUFA10_chr2_239952372_240030342 | 240013286 | AAATGGGG others(19): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0003 | a0001c0003t0041 | a0001c0003t0041g0131 | 1 | 410 | 0.0024 | -26 | c.669 others(43): Show |
NDUFA10 | ENSG00000130414.13 | transcript | ENST00000252711.7 | protein_coding | 5/9 | chr2 | TogoVar | |||||||
NDUFAF2_chr5_60940205_61158026 | 61056909 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0255 | 1 | 252 | 0.0040 | -26 | c.128 others(45): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NDUFB10_chr16_1954538_1966975 | 1959442 | GCGGGTCC others(19): Show |
G | upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 444 | 0.0023 | -26 | c.-18 others(35): Show |
NDUFB10 | ENSG00000140990.15 | transcript | ENST00000268668.11 | protein_coding | 95 | chr16 | TogoVar | |||||||
NDUFB3_chr2_201067001_201090750 | 201069543 | AACACACA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG03491.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0148 a0001c0001t0001g0149 others(2): Show |
5 | 50 | 0.1000 | -26 | c.-25 others(37): Show |
NDUFB3 | ENSG00000119013.10 | transcript | ENST00000237889.9 | protein_coding | 2457 | chr2 | TogoVar | |||||||
NDUFB7_chr19_14561078_14577066 | 14566649 | AGGGGGGC others(19): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0084 |
2 | 400 | 0.0050 | -26 | c.281 others(40): Show |
NDUFB7 | ENSG00000099795.7 | transcript | ENST00000215565.3 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
NDUFB7_chr19_14561078_14577066 | 14566662 | CGGGCTGG others(19): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0002g0074 |
4 | 400 | 0.0100 | -26 | c.281 others(40): Show |
NDUFB7 | ENSG00000099795.7 | transcript | ENST00000215565.3 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
NDUFB8_chr10_100518740_100534871 | 100525615 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0138 |
3 | 20 | 0.1500 | -26 | c.468 others(41): Show |
NDUFB8 | ENSG00000166136.16 | transcript | ENST00000299166.9 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
NDUFS3_chr11_47574074_47589562 | 47579984 | GACACACA others(19): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 28 | 0.0357 | -26 | c.134 others(41): Show |
NDUFS3 | ENSG00000213619.11 | transcript | ENST00000263774.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NDUFS5_chr1_39021350_39039615 | 39024902 | TTATATAT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 HG03579.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0078 |
4 | 223 | 0.0179 | -26 | c.-15 others(37): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 1447 | chr1 | TogoVar | |||||||
NEB_chr2_151480339_151739476 | 151576506 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 166 | 0.0060 | -26 | c.167 others(45): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 105/181 | chr2 | TogoVar | |||||||
NEB_chr2_151480339_151739476 | 151576508 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | NA18946.hp2 | a0106 | a0106c0052 | a0106c0052t0001 | a0106c0052t0001g0072 | 1 | 172 | 0.0058 | -26 | c.167 others(45): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 105/181 | chr2 | TogoVar | |||||||
NECAB1_chr8_90786775_90964393 | 90956943 | CGTGTGTG others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0218 a0001c0001t0024g0219 |
2 | 87 | 0.0230 | -26 | c.*14 others(37): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 13/13 | 1448 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NEDD1_chr12_96902257_96958780 | 96930187 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG03130.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0320 |
3 | 395 | 0.0076 | -26 | c.490 others(43): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NEDD1_chr12_96902257_96958780 | 96930189 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01928.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0324 a0001c0001t0006g0018 a0001c0001t0006g0286 |
4 | 389 | 0.0103 | -26 | c.490 others(43): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NEDD1_chr12_96902257_96958780 | 96930191 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 others(1): Show |
4 | 396 | 0.0101 | -26 | c.490 others(43): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NEDD4_chr15_55821922_55998612 | 55839991 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 340 | 0.0029 | -26 | c.203 others(43): Show |
NEDD4 | ENSG00000069869.17 | transcript | ENST00000435532.8 | protein_coding | 21/28 | chr15 | TogoVar | |||||||
NEK11_chr3_131021877_131355465 | 131203767 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03654.hp2 NA19030.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0018 a0003c0003t0001g0083 a0003c0003t0001g0084 |
3 | 137 | 0.0219 | -26 | c.140 others(47): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 20813006 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0019 | 1 | 2 | 0.5000 | -26 | c.335 others(45): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44775227 | GCACACAC others(19): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0115 a0001c0001t0002g0150 |
3 | 156 | 0.0192 | -26 | c.892 others(41): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 8/19 | chr12 | TogoVar | |||||||
NELL2_chr12_44503278_44881315 | 44791183 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 32 | 0.0313 | -26 | c.336 others(45): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
NETO1_chr18_72738756_72872987 | 72772817 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG03139.hp2 HG03195.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0002g0242 others(5): Show |
8 | 342 | 0.0234 | -26 | c.868 others(45): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
NETO1_chr18_72738756_72872987 | 72772819 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0057 a0001c0001t0002g0128 a0001c0001t0002g0240 others(8): Show |
12 | 331 | 0.0363 | -26 | c.868 others(45): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
NETO1_chr18_72738756_72872987 | 72772821 | CTCTCTAT others(19): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0093 a0001c0001t0002g0133 a0001c0001t0002g0307 others(17): Show |
21 | 335 | 0.0627 | -26 | c.868 others(45): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
NETO1_chr18_72738756_72872987 | 72772823 | CTCTATAT others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp2 HG01346.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0314 a0001c0001t0002g0149 a0001c0001t0002g0241 others(12): Show |
15 | 327 | 0.0459 | -26 | c.868 others(45): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
NETO1_chr18_72738756_72872987 | 72772825 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00735.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0010 a0001c0001t0003g0120 a0001c0001t0003g0129 others(18): Show |
21 | 203 | 0.1034 | -26 | c.868 others(45): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
NEUROD6_chr7_31332465_31345726 | 31334280 | TTCTTTCT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 409 | 0.0049 | -26 | c.*39 others(37): Show |
NEUROD6 | ENSG00000164600.7 | transcript | ENST00000297142.4 | protein_coding | 3184 | chr7 | TogoVar | |||||||
NEXMIF_chrX_74727856_74930452 | 74796266 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186 | 1 | 221 | 0.0045 | -26 | c.-47 others(45): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | |||||||
NFASC_chr1_204823652_205027822 | 204837773 | GATTCTGC others(19): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01123.hp2 others(26): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(17): Show | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0031 others(26): Show |
29 | 224 | 0.1295 | -26 | c.-20 others(45): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | chr1 | TogoVar | |||||||
NFAT5_chr16_69560966_69709654 | 69627323 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02258.hp1 HG02970.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0073 others(6): Show |
9 | 18 | 0.5000 | -26 | c.253 others(41): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NFATC2_chr20_51381963_51547719 | 51396038 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0037 | 1 | 226 | 0.0044 | -26 | c.*44 others(43): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61284253 | TGAATTTT others(19): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 154 | 0.0065 | -26 | c.625 others(43): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61334555 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG01256.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0046 a0001c0001t0002g0045 a0001c0001t0003g0066 others(13): Show |
16 | 50 | 0.3200 | -26 | c.700 others(43): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIB_chr9_14076848_14319141 | 14080447 | CTTTTTTT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01981.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0017 | a0001c0001t0006g0071 a0001c0001t0008g0179 a0001c0001t0017g0009 others(3): Show |
6 | 28 | 0.2143 | -26 | c.*78 others(37): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 1400 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14216517 | TCTCTCTC others(19): Show |
T | intron_variant | MODIFIER | HG03654.hp1 NA18981.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0099 | a0001c0001t0004g0167 a0001c0001t0007g0206 a0001c0001t0099g0130 |
3 | 302 | 0.0099 | -26 | c.563 others(45): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14216524 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0004 | a0003c0004t0089 | a0003c0004t0089g0296 | 1 | 240 | 0.0042 | -26 | c.563 others(45): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14216528 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0037 | 1 | 258 | 0.0039 | -26 | c.563 others(45): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14216530 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0066 others(15): Show |
18 | 297 | 0.0606 | -26 | c.563 others(45): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14216532 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022 | a0001c0001t0006g0039 a0001c0001t0022g0083 |
2 | 291 | 0.0069 | -26 | c.563 others(45): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14216534 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02602.hp1 HG02818.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0020a0001c0001t0045others(2): Show | a0001c0001t0018g0139 a0001c0001t0020g0028 a0001c0001t0020g0030 others(3): Show |
6 | 293 | 0.0205 | -26 | c.563 others(45): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14237763 | AGTGTGTG others(19): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 32 | 0.0313 | -26 | c.563 others(45): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFKBIL1_chr6_31542608_31563829 | 31558520 | GCCAGATT others(19): Show |
G | frameshift_variant | HIGH | NA18978.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0019 | 1 | 448 | 0.0022 | -26 | c.105 others(35): Show |
p.Ser others(5): Show |
NFKBIL1 | ENSG00000204498.11 | transcript | ENST00000376148.9 | protein_coding | 4/4 | 1143/1451 | 1056/1146 | 352/381 | chr6 | TogoVar | |||
NFU1_chr2_69391126_69442435 | 69423236 | CTGTGTGA others(19): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0150 | 1 | 259 | 0.0039 | -26 | c.302 others(41): Show |
NFU1 | ENSG00000169599.13 | transcript | ENST00000410022.7 | protein_coding | 3/7 | chr2 | TogoVar | |||||||
NGF_chr1_115280917_115343249 | 115321576 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG02300.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0121 |
2 | 54 | 0.0370 | -26 | c.-13 others(47): Show |
NGF | ENSG00000134259.6 | transcript | ENST00000369512.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
NGLY1_chr3_25713944_25788443 | 25760860 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG03669.hp2 NA18945.hp1 NA18949.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0085 others(1): Show |
4 | 5 | 0.8000 | -26 | c.492 others(43): Show |
NGLY1 | ENSG00000151092.18 | transcript | ENST00000280700.10 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
NHEJ1_chr2_219064357_219165815 | 219080589 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00673.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0020others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0162 a0001c0001t0001g0163 others(33): Show |
36 | 346 | 0.1040 | -26 | c.589 others(43): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 5/7 | chr2 | TogoVar | |||||||
NHLH2_chr1_115831377_115846126 | 115843921 | CGTGTGTG others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 NA18941.hp2 NA18945.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
4 | 44 | 0.0909 | -26 | c.-33 others(37): Show |
NHLH2 | ENSG00000177551.5 | transcript | ENST00000320238.3 | protein_coding | 2796 | chr1 | TogoVar | |||||||
NHSL1_chr6_138417043_138504494 | 138437333 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03579.hp2 NA19240.hp2 |
a0006a0012 | a0006c0019a0006c0038a0012c0026 | a0006c0019t0038a0006c0038t0050a0012c0026t0037 | a0006c0019t0038g0251 a0006c0038t0050g0122 a0012c0026t0037g0238 |
3 | 328 | 0.0091 | -26 | c.665 others(43): Show |
NHSL1 | ENSG00000135540.12 | transcript | ENST00000343505.10 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
NHSL2_chrX_71905845_72158286 | 72087961 | TTGGGAGG others(19): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01433.hp1 HG02015.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0012a0001c0001t0048others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 others(28): Show |
31 | 187 | 0.1658 | -26 | c.281 others(45): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17447773 | GCACACAC others(19): Show |
G | intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 162 | 0.0062 | -26 | c.565 others(45): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar |