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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOTUM_chr17_81947507_81966187 | 81952348 | G | GGGAGGGG others(26): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 384 | 0.0026 | 33 | c.*61 others(42): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 158 | chr17 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 32938524 | A | AGAGAGAG others(26): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0008 | a0001c0008t0012 | a0001c0008t0012g0025 | 1 | 92 | 0.0109 | 33 | c.-79 others(42): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 354 | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33301323 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0055 | 1 | 92 | 0.0109 | 33 | c.386 others(52): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33544827 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0076 | 1 | 92 | 0.0109 | 33 | c.469 others(52): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPEPPS_chr17_47526108_47628276 | 47538202 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 342 | 0.0029 | 33 | c.255 others(50): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NPFFR1_chr10_70242329_70289004 | 70272244 | G | GAAAGAAA others(26): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0129 | a0001c0002t0129g0306 | 1 | 368 | 0.0027 | 33 | c.8-5 others(46): Show |
NPFFR1 | ENSG00000148734.8 | transcript | ENST00000277942.7 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0183 | 1 | 208 | 0.0048 | 33 | c.517 others(50): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0193 | 1 | 208 | 0.0048 | 33 | c.517 others(50): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | ||||||
NPIPB15_chr16_74371306_74397115 | 74377800 | C | CCCCCTCC others(26): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02132.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0189 | 3 | 261 | 0.0115 | 33 | c.-22 others(47): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPIPB15_chr16_74371306_74397115 | 74377800 | C | CCCCCTCC others(26): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 261 | 0.0038 | 33 | c.-22 others(48): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPM2_chr8_22019134_22041897 | 22021909 | C | CAAAAAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 434 | 0.0023 | 33 | c.-28 others(44): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2224 | chr8 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34790967 | A | ATATATGT others(26): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00673.hp1 others(24): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0039a0001c0002t0001g0093a0001c0002t0001g0231others(24): Show | 27 | 260 | 0.1039 | 33 | c.384 others(52): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPS_chr10_127544309_127558540 | 127554776 | T | TCTCCCTC others(26): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 464 | 0.0022 | 33 | c.*21 others(44): Show |
NPS | ENSG00000214285.3 | transcript | ENST00000398023.3 | protein_coding | 1237 | chr10 | TogoVar | ||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102a0002c0002t0001g0114 | 2 | 444 | 0.0045 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00408.hp2 HG03579.hp1 HG03710.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023a0002c0002t0001g0059a0002c0002t0001g0115others(1): Show | 7 | 444 | 0.0158 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp1 others(67): Show |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0009others(2): Show | a0002c0002t0001g0006a0002c0002t0001g0011a0002c0002t0001g0013others(31): Show | 70 | 444 | 0.1577 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 444 | 0.0023 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
NQO1_chr16_69704401_69731560 | 69713888 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0034a0001c0001t0001g0138others(3): Show | 11 | 444 | 0.0248 | 33 | c.418 others(48): Show |
NQO1 | ENSG00000181019.13 | transcript | ENST00000320623.10 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
NR3C2_chr4_148073764_148447414 | 148363504 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 | 1 | 170 | 0.0059 | 33 | c.175 others(54): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
NR5A2_chr1_200022710_200182415 | 200074736 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18981.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0213a0001c0001t0003g0191a0001c0001t0003g0263 | 3 | 286 | 0.0105 | 33 | c.111 others(54): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NRCAM_chr7_108142649_108461436 | 108299114 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00609.hp1 HG06807.hp1 NA19058.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0003t0004a0002c0005t0003 | a0001c0002t0001g0091a0001c0002t0001g0154a0001c0003t0004g0208others(1): Show | 4 | 208 | 0.0192 | 33 | c.-10 others(54): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086a0001c0001t0002g0116 | 2 | 384 | 0.0052 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089a0001c0001t0002g0105 | 2 | 384 | 0.0052 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0143a0001c0001t0002g0060 | 2 | 384 | 0.0052 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA18999.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0045a0001c0001t0002g0102a0001c0002t0001g0223others(1): Show | 4 | 384 | 0.0104 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212a0001c0001t0001g0220 | 2 | 384 | 0.0052 | 33 | c.*64 others(44): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | ||||||
NRG1_chr8_32543311_32779046 | 32634099 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18991.hp1 NA18991.hp2 NA19000.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0087a0002c0002t0118a0003c0003t0001others(2): Show | a0002c0002t0087g0069a0002c0002t0118g0220a0003c0003t0001g0016others(3): Show | 6 | 244 | 0.0246 | 33 | c.502 others(52): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NRIP2_chr12_2820348_2840035 | 2835190 | T | TGTGTGTG others(26): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 422 | 0.0024 | 33 | c.-20 others(42): Show |
NRIP2 | ENSG00000053702.15 | transcript | ENST00000337508.9 | protein_coding | 156 | chr12 | TogoVar | ||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03831.hp2 |
a0001 | a0001c0003a0001c0025 | a0001c0003t0007a0001c0025t0001 | a0001c0003t0007g0007a0001c0025t0001g0231 | 2 | 262 | 0.0076 | 33 | c.186 others(52): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50644841 | T | TTATATTT others(26): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0012 | a0001c0012t0041 | a0001c0012t0041g0100 | 1 | 116 | 0.0086 | 33 | c.833 others(52): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAATAT others(26): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0070 | 1 | 116 | 0.0086 | 33 | c.833 others(52): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NSA2_chr5_74762249_74785113 | 74784510 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 402 | 0.0025 | 33 | c.*78 others(44): Show |
NSA2 | ENSG00000164346.10 | transcript | ENST00000610426.5 | protein_coding | 4398 | chr5 | TogoVar | ||||||
NSUN4_chr1_46335807_46370018 | 46360249 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02970.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0042a0001c0001t0043a0004c0004t0055 | a0001c0001t0042g0307a0001c0001t0043g0087a0004c0004t0055g0331 | 3 | 388 | 0.0077 | 33 | c.754 others(48): Show |
NSUN4 | ENSG00000117481.11 | transcript | ENST00000474844.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NSUN6_chr10_18540561_18656587 | 18600941 | A | AAATATAT others(26): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18983.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0075a0001c0001t0001g0085 | 3 | 346 | 0.0087 | 33 | c.658 others(50): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39674105 | T | TTTATTTT others(26): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0059 | 1 | 326 | 0.0031 | 33 | c.-20 others(44): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 1999 | chr1 | TogoVar | ||||||
NT5DC4_chr2_112716020_112744095 | 112720012 | C | CTTTTCCC others(26): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0275 | 1 | 364 | 0.0028 | 33 | c.-10 others(44): Show |
NT5DC4 | ENSG00000144130.12 | transcript | ENST00000688554.1 | protein_coding | 1007 | chr2 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132282976 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 86 | 0.0116 | 33 | c.527 others(52): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTN1_chr17_9016510_9249000 | 9038265 | C | CACACACA others(26): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02257.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003a0001c0001t0002g0043a0001c0001t0004g0005others(2): Show | 5 | 258 | 0.0194 | 33 | c.101 others(54): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
NTN1_chr17_9016510_9249000 | 9038265 | C | CTCACACA others(26): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0169a0001c0001t0001g0194a0001c0001t0001g0198others(24): Show | 27 | 258 | 0.1047 | 33 | c.101 others(54): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
NTN1_chr17_9016510_9249000 | 9038265 | C | CTCTCACA others(26): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 258 | 0.0039 | 33 | c.101 others(54): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84797659 | A | ACTATATA others(26): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18988.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0036 | a0001c0001t0002g0034a0001c0001t0005g0044a0001c0002t0036g0033 | 3 | 170 | 0.0177 | 33 | c.139 others(54): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 12/18 | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84797744 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0059others(1): Show | a0001c0001t0002g0035a0001c0001t0002g0056a0001c0001t0011g0004others(3): Show | 6 | 170 | 0.0353 | 33 | c.139 others(54): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NTRK2_chr9_84664729_85032054 | 84797777 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0004others(2): Show | a0001c0001t0003g0071a0001c0001t0008g0155a0001c0002t0004g0141others(2): Show | 5 | 170 | 0.0294 | 33 | c.139 others(54): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUBPL_chr14_31556404_31866224 | 31841921 | T | TGTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0230 | 1 | 268 | 0.0037 | 33 | c.694 others(50): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 8/10 | chr14 | TogoVar | ||||||
NUMA1_chr11_71997864_72085542 | 72049560 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0162 | 1 | 244 | 0.0041 | 33 | c.-32 others(52): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 2/26 | chr11 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73353072 | G | GTTTTTCT others(26): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 322 | 0.0031 | 33 | c.126 others(50): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
NUP155_chr5_37283137_37376106 | 37294005 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 300 | 0.0033 | 33 | c.393 others(50): Show |
NUP155 | ENSG00000113569.16 | transcript | ENST00000231498.8 | protein_coding | 33/34 | chr5 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47775210 | T | TAGAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 NA18962.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070a0001c0001t0002g0293a0001c0001t0002g0327 | 3 | 338 | 0.0089 | 33 | c.*38 others(44): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2907 | chr11 | TogoVar | ||||||
NUP188_chr9_128942699_129012096 | 128984124 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18979.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018a0001c0002t0001g0096 | 2 | 296 | 0.0068 | 33 | c.196 others(50): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 19/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP210_chr3_13311235_13425322 | 13311940 | A | ACACCAAC others(26): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02970.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0004a0008c0009t0001g0194 | 2 | 326 | 0.0061 | 33 | c.*57 others(44): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4294 | chr3 | TogoVar |