| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NUDT4_chr12_93372925_93413146 | 93375484 | TAGAGAGA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0131a0001c0001t0135others(1): Show | a0001c0001t0048g0225a0001c0001t0131g0141a0001c0001t0135g0020others(1): Show | 4 | 414 | 0.0097 | -8 | c.-28 others(19): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 2440 | chr12 | TogoVar | ||||||
| NUDT5_chr10_12160330_12200891 | 12171687 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00609.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0147a0001c0001t0002g0223a0001c0001t0003g0006others(21): Show | 33 | 394 | 0.0838 | -8 | c.488 others(23): Show |
NUDT5 | ENSG00000165609.14 | transcript | ENST00000491614.6 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
| NUDT6_chr4_122887577_122927597 | 122915469 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029a0001c0003t0001g0081a0001c0003t0001g0083others(6): Show | 10 | 368 | 0.0272 | -8 | c.442 others(25): Show |
NUDT6 | ENSG00000170917.14 | transcript | ENST00000304430.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
| NUDT7_chr16_77717514_77747260 | 77721135 | CCTTTCTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp2 NA18947.hp2 NA18978.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0242a0002c0002t0001g0064 | 3 | 462 | 0.0065 | -8 | c.-14 others(19): Show |
NUDT7 | ENSG00000140876.11 | transcript | ENST00000268533.9 | protein_coding | 1378 | chr16 | TogoVar | ||||||
| NUDT9_chr4_87417573_87464455 | 87462473 | TTTTCTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02257.hp2 others(9): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0003a0002c0005t0002a0002c0005t0016 | a0002c0003t0003g0006a0002c0003t0003g0034a0002c0003t0003g0233others(4): Show | 12 | 402 | 0.0299 | -8 | c.*44 others(19): Show |
NUDT9 | ENSG00000170502.13 | transcript | ENST00000302174.9 | protein_coding | 3019 | chr4 | TogoVar | ||||||
| NUF2_chr1_163316954_163360759 | 163327098 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0026others(6): Show | 20 | 400 | 0.0500 | -8 | c.124 others(23): Show |
NUF2 | ENSG00000143228.13 | transcript | ENST00000271452.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NUFIP2_chr17_29250839_29299148 | 29273497 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01123.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0015a0001c0001t0068others(2): Show | a0001c0001t0005g0276a0001c0001t0005g0277a0001c0001t0005g0278others(16): Show | 20 | 356 | 0.0562 | -8 | c.200 others(27): Show |
NUFIP2 | ENSG00000108256.9 | transcript | ENST00000225388.9 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
| NUFIP2_chr17_29250839_29299148 | 29290664 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01123.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(4): Show | a0001c0001t0002g0193a0001c0001t0005g0276a0001c0001t0005g0277others(18): Show | 22 | 356 | 0.0618 | -8 | c.278 others(25): Show |
NUFIP2 | ENSG00000108256.9 | transcript | ENST00000225388.9 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
| NUMA1_chr11_71997864_72085542 | 72040445 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG00738.hp1 others(9): Show |
a0001a0008 | a0001c0001a0001c0006a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0003others(2): Show | a0001c0001t0001g0099a0001c0001t0002g0006a0001c0001t0002g0019others(9): Show | 12 | 244 | 0.0492 | -8 | c.-32 others(25): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 2/26 | chr11 | TogoVar | ||||||
| NUMA1_chr11_71997864_72085542 | 72055965 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(152): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0033a0001c0001t0001g0034others(151): Show | 155 | 244 | 0.6353 | -8 | c.-33 others(27): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 2/26 | chr11 | TogoVar | ||||||
| NUMA1_chr11_71997864_72085542 | 72056635 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(70): Show |
a0001a0004a0005others(10): Show | a0001c0001a0001c0003a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(15): Show | a0001c0001t0001g0095a0001c0001t0001g0116a0001c0001t0001g0158others(70): Show | 73 | 244 | 0.2992 | -8 | c.-33 others(27): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 2/26 | chr11 | TogoVar | ||||||
| NUMA1_chr11_71997864_72085542 | 72084861 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG02897.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0010a0001c0020a0001c0022others(3): Show | a0001c0010t0004a0001c0020t0003a0001c0022t0004others(3): Show | a0001c0010t0004g0133a0001c0020t0003g0003a0001c0022t0004g0135others(4): Show | 7 | 244 | 0.0287 | -8 | c.-45 others(19): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 4320 | chr11 | TogoVar | ||||||
| NUMBL_chr19_40660905_40695651 | 40675576 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02559.hp2 others(6): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0008a0001c0003t0003a0001c0007t0001others(3): Show | a0001c0001t0008g0265a0001c0001t0008g0266a0001c0003t0003g0141others(6): Show | 9 | 414 | 0.0217 | -8 | c.730 others(25): Show |
NUMBL | ENSG00000105245.9 | transcript | ENST00000252891.8 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
| NUMBL_chr19_40660905_40695651 | 40686376 | ACTCCTGA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(153): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0012others(108): Show | 156 | 414 | 0.3768 | -8 | c.109 others(23): Show |
NUMBL | ENSG00000105245.9 | transcript | ENST00000252891.8 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73350060 | TATACATA others(1): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309a0001c0001t0001g0310a0001c0001t0001g0311others(7): Show | 10 | 322 | 0.0311 | -8 | c.126 others(25): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73352451 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02922.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0257a0001c0002t0003g0246a0001c0002t0003g0248 | 3 | 322 | 0.0093 | -8 | c.126 others(25): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73352477 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0109a0001c0001t0001g0115others(1): Show | 4 | 322 | 0.0124 | -8 | c.126 others(25): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73372305 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01884.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0002g0203others(6): Show | 9 | 322 | 0.0280 | -8 | c.-10 others(27): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73395037 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02148.hp1 HG03491.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0260a0001c0001t0003g0039a0001c0001t0004g0195 | 3 | 322 | 0.0093 | -8 | c.-10 others(29): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
| NUMB_chr14_73270216_73463546 | 73445354 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02723.hp1 HG02970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(5): Show | 8 | 322 | 0.0248 | -8 | c.-23 others(29): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
| NUP133_chr1_229435259_229513341 | 229435461 | CCTCTCTC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(16): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0016a0001c0007t0001 | a0001c0001t0001g0056a0001c0001t0001g0060a0001c0001t0001g0063others(16): Show | 19 | 276 | 0.0688 | -8 | c.*64 others(19): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 4797 | chr1 | TogoVar | ||||||
| NUP133_chr1_229435259_229513341 | 229438951 | AAATGAAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(80): Show |
a0002a0003a0004others(3): Show | a0002c0002a0002c0005a0002c0015others(5): Show | a0002c0002t0002a0002c0002t0010a0002c0002t0011others(12): Show | a0002c0002t0002g0007a0002c0002t0002g0216a0002c0002t0002g0217others(79): Show | 83 | 276 | 0.3007 | -8 | c.*29 others(19): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 1307 | chr1 | TogoVar | ||||||
| NUP133_chr1_229435259_229513341 | 229475098 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02809.hp1 others(5): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0017 | a0005c0006t0001g0010a0005c0006t0001g0012a0005c0006t0001g0013others(5): Show | 8 | 276 | 0.0290 | -8 | c.185 others(25): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 14/25 | chr1 | TogoVar | ||||||
| NUP133_chr1_229435259_229513341 | 229507877 | AATCAACT others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02976.hp1 HG03041.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0013 | a0003c0003t0007g0265a0003c0003t0007g0266a0003c0003t0007g0267others(2): Show | 5 | 276 | 0.0181 | -8 | c.182 others(23): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 1/25 | chr1 | TogoVar | ||||||
| NUP153_chr6_17610037_17711925 | 17693183 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0011 | a0001c0011t0001a0001c0011t0003 | a0001c0011t0001g0045a0001c0011t0001g0046a0001c0011t0001g0092others(2): Show | 5 | 316 | 0.0158 | -8 | c.112 others(25): Show |
NUP153 | ENSG00000124789.12 | transcript | ENST00000262077.3 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47782303 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0326a0001c0001t0001g0333a0001c0006t0001g0171others(3): Show | 6 | 338 | 0.0178 | -8 | c.401 others(25): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 34/35 | chr11 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47793722 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(103): Show |
a0001a0005a0006 | a0001c0001a0001c0006a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0001g0137others(103): Show | 106 | 338 | 0.3136 | -8 | c.318 others(25): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 27/35 | chr11 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47806788 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG02735.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0004a0005c0008t0002 | a0001c0001t0002g0063a0001c0001t0002g0069a0001c0001t0002g0187others(8): Show | 11 | 338 | 0.0325 | -8 | c.234 others(25): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 19/35 | chr11 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47806790 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00673.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0169a0001c0001t0001g0238a0002c0002t0001g0016others(17): Show | 20 | 338 | 0.0592 | -8 | c.234 others(25): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 19/35 | chr11 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47824008 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG01169.hp1 others(24): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0138a0001c0001t0001g0180a0001c0001t0001g0227others(23): Show | 27 | 338 | 0.0799 | -8 | c.100 others(27): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 7/35 | chr11 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47831842 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01169.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0030a0002c0002t0001g0031a0002c0002t0001g0041others(3): Show | 6 | 338 | 0.0178 | -8 | c.999 others(25): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 7/35 | chr11 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47831894 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(100): Show |
a0001a0005a0006 | a0001c0001a0005c0008a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0073a0001c0001t0001g0129a0001c0001t0001g0130others(100): Show | 103 | 338 | 0.3047 | -8 | c.999 others(25): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 7/35 | chr11 | TogoVar | ||||||
| NUP160_chr11_47773118_47853350 | 47850823 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0128a0001c0001t0001g0170a0001c0001t0001g0243others(11): Show | 14 | 338 | 0.0414 | -8 | c.-25 others(19): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2474 | chr11 | TogoVar | ||||||
| NUP188_chr9_128942699_129012096 | 128961590 | CTAGATAG others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0138a0001c0001t0001g0262a0001c0001t0001g0264others(1): Show | 4 | 296 | 0.0135 | -8 | c.585 others(25): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 8/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NUP188_chr9_128942699_129012096 | 128966128 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01099.hp1 others(11): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0116a0001c0001t0001g0120a0001c0001t0001g0142others(11): Show | 14 | 296 | 0.0473 | -8 | c.586 others(25): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 8/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135567120 | CTATGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG02723.hp1 others(4): Show |
a0001a0007 | a0001c0002a0001c0004a0001c0021others(1): Show | a0001c0002t0001a0001c0004t0002a0001c0021t0001others(1): Show | a0001c0002t0001g0180a0001c0002t0001g0198a0001c0002t0001g0261others(4): Show | 7 | 352 | 0.0199 | -8 | c.29- others(23): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135567124 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp2 NA19005.hp1 NA19076.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0091a0001c0001t0001g0092others(1): Show | 4 | 352 | 0.0114 | -8 | c.29- others(23): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135570048 | TATATAGA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp2 HG01081.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0054a0001c0002t0001g0199others(2): Show | 5 | 352 | 0.0142 | -8 | c.29- others(23): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135570050 | TATAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01515.hp1 HG02165.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0196a0001c0002t0001g0213a0001c0002t0001g0218others(4): Show | 7 | 352 | 0.0199 | -8 | c.29- others(23): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135570052 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03225.hp2 NA18970.hp2 others(4): Show |
a0001a0007 | a0001c0003a0001c0008a0001c0029others(1): Show | a0001c0003t0001a0001c0008t0001a0001c0029t0001others(1): Show | a0001c0003t0001g0307a0001c0003t0001g0309a0001c0003t0001g0310others(4): Show | 7 | 352 | 0.0199 | -8 | c.29- others(23): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135629469 | ATCTCTCT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(106): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0027a0001c0001t0001g0100others(104): Show | 109 | 352 | 0.3097 | -8 | c.493 others(25): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 34/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135642843 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0001a0001c0011t0001 | a0001c0001t0001g0127a0001c0001t0001g0129a0001c0001t0001g0130others(8): Show | 11 | 352 | 0.0313 | -8 | c.539 others(25): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 38/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NUP210L_chr1_153987690_154160073 | 154015906 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02300.hp1 HG02698.hp2 others(7): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0020 | a0001c0001t0001a0002c0002t0001a0014c0020t0001 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0058others(7): Show | 10 | 290 | 0.0345 | -8 | c.465 others(27): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 33/39 | chr1 | TogoVar | ||||||
| NUP210L_chr1_153987690_154160073 | 154036313 | CATGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00735.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0058a0001c0001t0001g0071a0001c0001t0001g0074others(22): Show | 25 | 290 | 0.0862 | -8 | c.369 others(27): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 27/39 | chr1 | TogoVar | ||||||
| NUP210L_chr1_153987690_154160073 | 154036314 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG00741.hp2 others(31): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0068others(31): Show | 34 | 290 | 0.1172 | -8 | c.369 others(27): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 27/39 | chr1 | TogoVar | ||||||
| NUP210L_chr1_153987690_154160073 | 154036354 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02896.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0001 | a0001c0006t0001g0108a0001c0006t0001g0109a0002c0002t0001g0050 | 3 | 290 | 0.0103 | -8 | c.369 others(27): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 27/39 | chr1 | TogoVar | ||||||
| NUP210L_chr1_153987690_154160073 | 154055123 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG01074.hp1 others(20): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0013others(20): Show | 23 | 290 | 0.0793 | -8 | c.324 others(25): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 23/39 | chr1 | TogoVar | ||||||
| NUP210L_chr1_153987690_154160073 | 154125752 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG02273.hp1 others(9): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0016 | a0001c0001t0001a0002c0002t0001a0010c0016t0001 | a0001c0001t0001g0059a0001c0001t0001g0091a0001c0001t0001g0094others(9): Show | 12 | 290 | 0.0414 | -8 | c.132 others(25): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
| NUP214_chr9_131120586_131239663 | 131123942 | ATATATGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG01361.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0174a0002c0002t0001g0136a0002c0002t0001g0167others(3): Show | 6 | 234 | 0.0256 | -8 | c.-17 others(19): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 1643 | chr9 | TogoVar | ||||||
| NUP42_chr7_23177048_23206006 | 23188170 | CCTTGGGA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01243.hp2 others(35): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0116a0001c0002t0002g0026a0001c0002t0002g0029others(30): Show | 38 | 364 | 0.1044 | -8 | c.445 others(25): Show |
NUP42 | ENSG00000136243.18 | transcript | ENST00000258742.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |