| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NTN1_chr17_9016510_9249000 | 9174813 | AAGGTCAG others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0025 | a0001c0001t0001g0002a0001c0001t0003g0046a0001c0001t0025g0182 | 3 | 258 | 0.0116 | -24 | c.120 others(43): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| NTN1_chr17_9016510_9249000 | 9229074 | TTGTGACT others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(207): Show | 210 | 258 | 0.8140 | -24 | c.148 others(43): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| NTN4_chr12_95652807_95795764 | 95655318 | GATGTTGG others(17): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp2 HG03017.hp1 HG03831.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0008a0002c0003t0003 | a0001c0001t0003g0079a0001c0001t0008g0021a0002c0003t0003g0277others(1): Show | 4 | 324 | 0.0124 | -24 | c.*37 others(35): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 2488 | chr12 | TogoVar | ||||||
| NTN4_chr12_95652807_95795764 | 95735903 | ATTTTTAT others(17): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 324 | 0.0031 | -24 | c.864 others(41): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 3/9 | chr12 | TogoVar | ||||||
| NTN4_chr12_95652807_95795764 | 95741427 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0253 | 1 | 324 | 0.0031 | -24 | c.586 others(41): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
| NTNG1_chr1_107136039_107489923 | 107263272 | GCTTCCTT others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01167.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0046a0001c0001t0001g0063others(12): Show | 15 | 150 | 0.1000 | -24 | c.247 others(43): Show |
NTNG1 | ENSG00000162631.20 | transcript | ENST00000370068.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NTNG2_chr9_132157058_132249526 | 132216412 | CTCTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG04115.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0037 | a0001c0003t0002g0028a0001c0003t0037g0137 | 2 | 358 | 0.0056 | -24 | c.858 others(43): Show |
NTNG2 | ENSG00000196358.12 | transcript | ENST00000393229.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK1_chr1_156855865_156886850 | 156857163 | ATGTGTGT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01891.hp1 HG02129.hp2 others(5): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0241a0001c0001t0001g0261a0001c0003t0001g0017others(4): Show | 8 | 392 | 0.0204 | -24 | c.-37 others(35): Show |
NTRK1 | ENSG00000198400.14 | transcript | ENST00000524377.7 | protein_coding | 3701 | chr1 | TogoVar | ||||||
| NTRK2_chr9_84664729_85032054 | 84924229 | TAGAAAGA others(17): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0023 | 1 | 170 | 0.0059 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84926102 | TTCCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0149 | 1 | 170 | 0.0059 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84926106 | TTTCCTTC others(17): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 170 | 0.0059 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84926149 | CCTTCCTT others(17): Show |
C | intron_variant | MODIFIER | HG01123.hp2 NA18522.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0009a0004c0009t0009 | a0001c0001t0009g0128a0004c0009t0009g0133 | 2 | 170 | 0.0118 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84926153 | CCTTCCTT others(17): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0015 | 1 | 170 | 0.0059 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84926157 | CCTTCCTT others(17): Show |
C | intron_variant | MODIFIER | HG03669.hp2 NA18939.hp1 NA19077.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010 | a0001c0001t0004g0049a0001c0001t0005g0058a0001c0001t0005g0063others(1): Show | 4 | 170 | 0.0235 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84926161 | CCTTCCTT others(17): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02698.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0035a0001c0001t0002g0056a0001c0001t0003g0074others(1): Show | 4 | 170 | 0.0235 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84926165 | CCTTCCTT others(17): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 170 | 0.0059 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84926169 | CCTTTCTT others(17): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029 | 1 | 170 | 0.0059 | -24 | c.163 others(43): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK2_chr9_84664729_85032054 | 84975762 | ATATTCAC others(17): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0015 | 1 | 170 | 0.0059 | -24 | c.217 others(45): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NTRK3_chr15_87854751_88261739 | 87912927 | AAAAAATA others(17): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02083.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0040a0001c0002t0064others(5): Show | a0001c0001t0002g0027a0001c0001t0040g0075a0001c0002t0064g0124others(5): Show | 8 | 134 | 0.0597 | -24 | c.213 others(45): Show |
NTRK3 | ENSG00000140538.17 | transcript | ENST00000629765.3 | protein_coding | 17/19 | chr15 | TogoVar | ||||||
| NTRK3_chr15_87854751_88261739 | 87954007 | AGTGTGTG others(17): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0045 | 1 | 134 | 0.0075 | -24 | c.158 others(45): Show |
NTRK3 | ENSG00000140538.17 | transcript | ENST00000629765.3 | protein_coding | 14/19 | chr15 | TogoVar | ||||||
| NTRK3_chr15_87854751_88261739 | 88147505 | CCTTCTTC others(17): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02083.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0002a0001c0007a0001c0008 | a0001c0002t0041a0001c0007t0001a0001c0007t0008others(2): Show | a0001c0002t0041g0117a0001c0007t0001g0126a0001c0007t0008g0121others(2): Show | 5 | 134 | 0.0373 | -24 | c.396 others(39): Show |
NTRK3 | ENSG00000140538.17 | transcript | ENST00000629765.3 | protein_coding | 5/19 | chr15 | TogoVar | ||||||
| NTRK3_chr15_87854751_88261739 | 88212700 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG02071.hp1 HG02683.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0048a0001c0003t0075 | a0001c0001t0001g0050a0001c0003t0048g0078a0001c0003t0075g0016 | 3 | 134 | 0.0224 | -24 | c.249 others(43): Show |
NTRK3 | ENSG00000140538.17 | transcript | ENST00000629765.3 | protein_coding | 3/19 | chr15 | TogoVar | ||||||
| NTSR1_chr20_62703836_62767771 | 62767670 | TGAAGGAA others(17): Show |
T | downstream_gene_variant | MODIFIER | NA18612.hp2 NA18947.hp1 NA18980.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0012 | a0001c0001t0001g0039a0001c0001t0001g0050a0001c0001t0003g0100others(1): Show | 4 | 316 | 0.0127 | -24 | c.*74 others(35): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 4900 | chr20 | TogoVar | ||||||
| NUCB2_chr11_17271739_17337211 | 17288880 | TATACACA others(17): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 360 | 0.0028 | -24 | c.-1+ others(39): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NUCB2_chr11_17271739_17337211 | 17288882 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01943.hp1 HG01993.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0003others(1): Show | a0001c0001t0001g0258a0001c0001t0001g0295a0001c0001t0001g0325others(18): Show | 21 | 360 | 0.0583 | -24 | c.-1+ others(39): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NUCB2_chr11_17271739_17337211 | 17326726 | CAAGAGAA others(17): Show |
C | intron_variant | MODIFIER | NA19084.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0098 | 1 | 360 | 0.0028 | -24 | c.100 others(43): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NUDC_chr1_26916743_26951871 | 26936159 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 254 | 0.0039 | -24 | c.160 others(41): Show |
NUDC | ENSG00000090273.14 | transcript | ENST00000321265.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NUDT1_chr7_2237226_2256145 | 2238977 | TTATATAT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(100): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(35): Show | 103 | 414 | 0.2488 | -24 | c.-32 others(35): Show |
NUDT1 | ENSG00000106268.16 | transcript | ENST00000356714.6 | protein_coding | 3248 | chr7 | TogoVar | ||||||
| NUDT2_chr9_34324569_34348699 | 34346359 | AATATATA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02145.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0238a0001c0001t0002g0046others(1): Show | 4 | 436 | 0.0092 | -24 | c.*29 others(35): Show |
NUDT2 | ENSG00000164978.18 | transcript | ENST00000379158.7 | protein_coding | 2661 | chr9 | TogoVar | ||||||
| NUDT2_chr9_34324569_34348699 | 34346396 | ATATATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00673.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(11): Show | 17 | 436 | 0.0390 | -24 | c.*29 others(35): Show |
NUDT2 | ENSG00000164978.18 | transcript | ENST00000379158.7 | protein_coding | 2698 | chr9 | TogoVar | ||||||
| NUDT3_chr6_34274679_34397669 | 34366454 | GAGAGAAA others(17): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0269 | 1 | 270 | 0.0037 | -24 | c.100 others(43): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
| NUMA1_chr11_71997864_72085542 | 72040445 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0097a0001c0001t0001g0125a0001c0001t0001g0231others(2): Show | 5 | 244 | 0.0205 | -24 | c.-32 others(41): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 2/26 | chr11 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73352455 | CACATACA others(17): Show |
C | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 322 | 0.0031 | -24 | c.126 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73352473 | CACACATA others(17): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0267a0001c0001t0001g0286a0001c0001t0001g0287others(5): Show | 8 | 322 | 0.0248 | -24 | c.126 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73352475 | CACATATA others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0005 | a0001c0001t0001g0090a0001c0001t0001g0268a0001c0001t0001g0270others(10): Show | 13 | 322 | 0.0404 | -24 | c.126 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73352477 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 322 | 0.0031 | -24 | c.126 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73372319 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 322 | 0.0031 | -24 | c.-10 others(43): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73395030 | CGTGTGTT others(17): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319a0001c0001t0001g0320a0001c0001t0001g0321others(1): Show | 4 | 322 | 0.0124 | -24 | c.-10 others(45): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73445354 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG04228.hp1 NA18969.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302a0001c0001t0001g0303a0001c0001t0001g0304others(2): Show | 5 | 322 | 0.0155 | -24 | c.-23 others(45): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
| NUP107_chr12_68681978_68750809 | 68718846 | TTATGTAT others(17): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0201 | 1 | 398 | 0.0025 | -24 | c.108 others(41): Show |
NUP107 | ENSG00000111581.10 | transcript | ENST00000229179.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NUP133_chr1_229435259_229513341 | 229435461 | CCTCTCTC others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(11): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0015others(1): Show | a0002c0002t0010a0002c0005t0005a0002c0015t0005others(1): Show | a0002c0002t0010g0225a0002c0002t0010g0234a0002c0005t0005g0020others(11): Show | 14 | 276 | 0.0507 | -24 | c.*64 others(35): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 4797 | chr1 | TogoVar | ||||||
| NUP153_chr6_17610037_17711925 | 17700092 | AACTTCTG others(17): Show |
A | intron_variant | MODIFIER | NA18953.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0037 | 1 | 316 | 0.0032 | -24 | c.111 others(41): Show |
NUP153 | ENSG00000124789.12 | transcript | ENST00000262077.3 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47782303 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG03471.hp1 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0062a0001c0001t0002g0278a0001c0001t0002g0328others(1): Show | 4 | 338 | 0.0118 | -24 | c.401 others(41): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 34/35 | chr11 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47806790 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 338 | 0.0030 | -24 | c.234 others(41): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 19/35 | chr11 | TogoVar | ||||||
| NUP205_chr7_135552917_135653753 | 135567120 | CTATGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02080.hp1 HG02129.hp1 |
a0001 | a0001c0002a0001c0003a0001c0034 | a0001c0002t0001a0001c0003t0001a0001c0034t0001 | a0001c0002t0001g0249a0001c0003t0001g0334a0001c0034t0001g0134 | 3 | 352 | 0.0085 | -24 | c.29- others(39): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135567124 | GTGTGTAT others(17): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0164a0001c0001t0001g0237 | 3 | 352 | 0.0085 | -24 | c.29- others(39): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP210L_chr1_153987690_154160073 | 154055123 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0223 | 1 | 290 | 0.0035 | -24 | c.324 others(41): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 23/39 | chr1 | TogoVar | ||||||
| NUP210L_chr1_153987690_154160073 | 154125622 | AAAGGAAG others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(24): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0172others(24): Show | 27 | 290 | 0.0931 | -24 | c.132 others(41): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
| NUP54_chr4_76109664_76153397 | 76125655 | GGAGAGAG others(17): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0154a0001c0001t0002g0166a0001c0001t0002g0167others(6): Show | 9 | 370 | 0.0243 | -24 | c.105 others(41): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
| NUP58_chr13_25296625_25347421 | 25304478 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01358.hp1 HG02074.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019a0002c0002t0001g0180a0002c0002t0001g0181others(8): Show | 12 | 350 | 0.0343 | -24 | c.107 others(41): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |