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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOC4L_chr12_132139457_132157468 | 132149739 | C | CCGCCGCC others(34): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 294 | 0.0034 | 41 | c.901 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149884 | C | CACACCAC others(34): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 294 | 0.0034 | 41 | c.901 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149884 | C | CACACCAC others(34): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19056.hp1 |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0001a0003c0008t0001 | a0001c0004t0001g0007a0003c0008t0001g0164 | 2 | 294 | 0.0068 | 41 | c.901 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149916 | C | CGCCGCCT others(34): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0051 | 1 | 294 | 0.0034 | 41 | c.901 others(58): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150087 | C | CGCCGCCT others(34): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0051 | 1 | 294 | 0.0034 | 41 | c.902 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150145 | C | CACCACAC others(34): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 294 | 0.0034 | 41 | c.902 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150307 | C | CGCCGCCT others(34): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 294 | 0.0034 | 41 | c.902 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150527 | C | CGCCGCCT others(34): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0051 | 1 | 294 | 0.0034 | 41 | c.902 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOL4_chr18_33846100_34229913 | 33886928 | C | CTATATAT others(34): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01071.hp1 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0036a0001c0001t0002g0037a0001c0001t0002g0047others(8): Show | 11 | 168 | 0.0655 | 41 | c.154 others(60): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 9/10 | chr18 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162217267 | C | CTTTTTTT others(34): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01257.hp1 HG02572.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0004a0001c0004t0003 | a0001c0001t0002g0081a0001c0002t0004g0015a0001c0004t0003g0154 | 3 | 182 | 0.0165 | 41 | c.177 others(60): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NOS1AP_chr1_162064691_162375475 | 162261539 | A | AGAGAGAG others(34): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18960.hp2 NA19074.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0004 | a0001c0001t0002g0049a0001c0002t0002g0182a0001c0002t0004g0110others(1): Show | 4 | 182 | 0.0220 | 41 | c.178 others(60): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NOS1AP_chr1_162064691_162375475 | 162261539 | A | AGAGAGAG others(34): Show |
intron_variant | MODIFIER | NA18948.hp2 NA19091.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0020a0001c0002t0002g0039 | 2 | 182 | 0.0110 | 41 | c.178 others(60): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NOTCH2_chr1_119906553_120074662 | 120041071 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 | 1 | 168 | 0.0060 | 41 | c.74- others(58): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
NOTCH3_chr19_15154038_15205995 | 15173052 | C | CCTCCTCC others(34): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0167 | 1 | 340 | 0.0029 | 41 | c.473 others(60): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | ||||||
NOTCH3_chr19_15154038_15205995 | 15173052 | C | CCTCCTCC others(34): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0056 | 1 | 340 | 0.0029 | 41 | c.473 others(60): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | ||||||
NOTCH3_chr19_15154038_15205995 | 15173052 | C | CCTCCTCC others(34): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02074.hp1 NA18944.hp2 |
a0002 | a0002c0003a0002c0006 | a0002c0003t0003a0002c0006t0003 | a0002c0003t0003g0030a0002c0003t0003g0132a0002c0006t0003g0324 | 3 | 340 | 0.0088 | 41 | c.473 others(60): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | ||||||
NOX5_chr15_69009695_69067762 | 69045536 | T | TCTTTCTT others(34): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0127 | 1 | 396 | 0.0025 | 41 | c.164 others(60): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 10/15 | chr15 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 32938524 | A | AGAGAGAG others(34): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0016 | 1 | 92 | 0.0109 | 41 | c.-79 others(50): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 354 | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33544827 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0089 | 1 | 92 | 0.0109 | 41 | c.469 others(60): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPHP3_chr3_132675609_132727409 | 132719416 | A | AACCCCTA others(34): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0239 | 1 | 342 | 0.0029 | 41 | c.520 others(56): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 2/26 | chr3 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0176 | 1 | 208 | 0.0048 | 41 | c.517 others(58): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | ||||||
NPIPB15_chr16_74371306_74397115 | 74377848 | C | CCTCTCCC others(34): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0020 | 1 | 261 | 0.0038 | 41 | c.-22 others(56): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
NPIPB7_chr16_28451329_28477336 | 28456583 | T | TTTCGGTG others(34): Show |
frameshift_variant | HIGH | NA18961.hp2 | a0022 | a0022c0024 | a0022c0024t0002 | a0022c0024t0002g0056 | 1 | 382 | 0.0026 | 41 | c.108 others(50): Show |
p.Lys others(5): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 2983/3238 | 1085/1245 | 362/414 | chr16 | TogoVar | ||
NPIPB7_chr16_28451329_28477336 | 28470625 | A | AAGGGGAG others(34): Show |
5_prime_UTR_variant | MODIFIER | HG03654.hp1 | a0029 | a0029c0027 | a0029c0027t0040 | a0029c0027t0040g0088 | 1 | 382 | 0.0026 | 41 | c.-18 others(50): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 188 | chr16 | TogoVar | |||||
NPR2_chr9_35786591_35814731 | 35789627 | A | AGGACTAT others(34): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 416 | 0.0048 | 41 | c.-27 others(52): Show |
NPR2 | ENSG00000159899.16 | transcript | ENST00000342694.7 | protein_coding | 1963 | chr9 | TogoVar | ||||||
NRK_chrX_105817539_105963610 | 105826401 | A | AATATATT others(34): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18961.hp1 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0011 | a0002c0002t0005g0199a0002c0002t0011g0201 | 2 | 219 | 0.0091 | 41 | c.57+ others(56): Show |
NRK | ENSG00000123572.17 | transcript | ENST00000243300.14 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NRROS_chr3_196634694_196667004 | 196647100 | T | TTGGACTT others(34): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 472 | 0.0021 | 41 | c.-14 others(58): Show |
NRROS | ENSG00000174004.6 | transcript | ENST00000328557.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NRXN1_chr2_49913503_51037132 | 50277405 | C | CTTCCTTC others(34): Show |
intron_variant | MODIFIER | HG02647.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0047 | a0001c0001t0017g0066a0001c0002t0047g0102 | 2 | 116 | 0.0172 | 41 | c.336 others(62): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50334190 | C | CACATTTT others(34): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0068 | 1 | 116 | 0.0086 | 41 | c.336 others(62): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50334192 | A | AATTTTAT others(34): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0079 | 1 | 116 | 0.0086 | 41 | c.336 others(62): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0098 | 1 | 116 | 0.0086 | 41 | c.833 others(60): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79631711 | C | CCCAATCA others(34): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01109.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(16): Show | a0001c0001t0002g0018a0001c0001t0008g0008a0001c0001t0010g0006others(17): Show | 20 | 24 | 0.8333 | 41 | c.344 others(62): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NSD1_chr5_177128773_177305213 | 177159030 | G | GATATATA others(34): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0124 | 1 | 298 | 0.0034 | 41 | c.927 others(60): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NSG1_chr4_4382102_4424058 | 4411784 | A | ACAACACA others(34): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0135 | 1 | 394 | 0.0025 | 41 | c.357 others(58): Show |
NSG1 | ENSG00000168824.15 | transcript | ENST00000621129.5 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
NSUN6_chr10_18540561_18656587 | 18562666 | A | AGGAGAAT others(34): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01192.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0135a0001c0001t0004g0136a0001c0001t0004g0137others(13): Show | 16 | 346 | 0.0462 | 41 | c.923 others(60): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
NT5DC4_chr2_112716020_112744095 | 112720012 | C | CTTTTCCC others(34): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 NA20129.hp2 |
a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0072a0012c0014t0001g0073 | 2 | 364 | 0.0055 | 41 | c.-10 others(52): Show |
NT5DC4 | ENSG00000144130.12 | transcript | ENST00000688554.1 | protein_coding | 1007 | chr2 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131730721 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 86 | 0.0116 | 41 | c.83- others(60): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTN1_chr17_9016510_9249000 | 9038265 | C | CTCTCACA others(34): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0086 | 1 | 258 | 0.0039 | 41 | c.101 others(62): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
NTN1_chr17_9016510_9249000 | 9114166 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0118 | 1 | 258 | 0.0039 | 41 | c.101 others(62): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NTN1_chr17_9016510_9249000 | 9114166 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0116 | 1 | 258 | 0.0039 | 41 | c.101 others(62): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NTN5_chr19_48656407_48678017 | 48669435 | C | CTACCATC others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00735.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0041others(4): Show | 40 | 412 | 0.0971 | 41 | c.631 others(56): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62738024 | G | GCCGCATC others(34): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(59): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0021others(57): Show | 62 | 316 | 0.1962 | 41 | c.715 others(60): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NTSR1_chr20_62703836_62767771 | 62738042 | C | CAGTGCCC others(34): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02572.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0005a0001c0001t0019a0001c0001t0024others(1): Show | a0001c0001t0005g0297a0001c0001t0019g0298a0001c0001t0024g0280others(2): Show | 5 | 316 | 0.0158 | 41 | c.715 others(60): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NTS_chr12_85869295_85887992 | 85879841 | T | TTTTTTGT others(34): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0145 | 2 | 420 | 0.0048 | 41 | c.360 others(58): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NUP160_chr11_47773118_47853350 | 47775210 | T | TAGAAAAA others(34): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0310 | 1 | 338 | 0.0030 | 41 | c.*38 others(52): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2907 | chr11 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154140666 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0034 | 2 | 290 | 0.0069 | 41 | c.567 others(56): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 4/39 | chr1 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3707738 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 342 | 0.0029 | 41 | c.274 others(60): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 20/32 | chr11 | TogoVar | ||||||
NUPR2_chr7_56109681_56121417 | 56115648 | T | TATATATA others(34): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 448 | 0.0022 | 41 | c.*6+ others(54): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NUTM2F_chr9_94313198_94333644 | 94313356 | T | TATATTAT others(34): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 322 | 0.0031 | 41 | c.*51 others(52): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4841 | chr9 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37331117 | A | ATACAATA others(34): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0009t0002 | a0001c0002t0002g0182a0001c0009t0002g0197a0001c0009t0002g0242 | 3 | 296 | 0.0101 | 41 | c.240 others(58): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |