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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPHP4_chr1_5857811_5997425 | 5975194 | GTGCACAC others(12): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0010 | a0010c0022 | a0010c0022t0005 | a0010c0022t0005g0207 | 1 | 208 | 0.0048 | -19 | c.279 others(36): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NPIPA7_chr16_16374140_16398972 | 16377068 | ACTGGGGG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02922.hp2 |
a0003a0008 | a0003c0006a0008c0009 | a0003c0006t0001a0008c0009t0001 | a0003c0006t0001g0010a0008c0009t0001g0009 | 2 | 132 | 0.0152 | -19 | c.-21 others(30): Show |
NPIPA7 | ENSG00000214967.6 | transcript | ENST00000530217.3 | protein_coding | 2071 | chr16 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18334807 | GCAGGACC others(12): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00639.hp2 NA19010.hp2 |
a0002 | a0002c0005 | a0002c0005t0004a0002c0005t0005 | a0002c0005t0004g0032a0002c0005t0005g0033 | 2 | 40 | 0.0500 | -19 | c.-18 others(28): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 2/10 | 2146 | chr16 | TogoVar | |||||
NPIPA8_chr16_18312919_18341736 | 18341174 | TAAGGGGG others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01884.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0008 | a0001c0001t0001g0030a0005c0009t0008g0009 | 2 | 40 | 0.0500 | -19 | c.-48 others(30): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4439 | chr16 | TogoVar | ||||||
NPIPB12_chr16_29478534_29511408 | 29484988 | GCGGAATC others(12): Show |
G | frameshift_variant | HIGH | HG01981.hp1 HG02004.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0014a0004c0004t0002g0015 | 2 | 21 | 0.0952 | -19 | c.146 others(28): Show |
p.Leu others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2150/3605 | 1469/2787 | 490/928 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224453 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG01099.hp2 | a0059 | a0059c0073 | a0059c0073t0002 | a0059c0073t0002g0132 | 1 | 145 | 0.0069 | -19 | c.197 others(28): Show |
p.Val others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4735/6292 | 1974/3417 | 658/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224580 | GCGGAATC others(12): Show |
G | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(6): Show |
a0007a0013a0015others(3): Show | a0007c0017a0007c0072a0007c0074others(5): Show | a0007c0017t0002a0007c0072t0002a0007c0074t0003others(5): Show | a0007c0017t0002g0124a0007c0017t0002g0133a0007c0072t0002g0125others(6): Show | 9 | 145 | 0.0621 | -19 | c.184 others(28): Show |
p.Leu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4608/6292 | 1847/3417 | 616/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224812 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG02683.hp1 | a0047 | a0047c0055 | a0047c0055t0002 | a0047c0055t0002g0117 | 1 | 145 | 0.0069 | -19 | c.161 others(28): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4376/6292 | 1615/3417 | 539/1138 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836142 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(10): Show |
a0008a0013a0029others(3): Show | a0008c0007a0013c0018a0013c0074others(4): Show | a0008c0007t0001a0013c0018t0001a0013c0074t0001others(4): Show | a0008c0007t0001g0001a0008c0007t0001g0078a0008c0007t0001g0081others(9): Show | 13 | 204 | 0.0637 | -19 | c.222 others(28): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2459/4020 | 2226/3669 | 742/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836268 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp1 HG01255.hp1 others(16): Show |
a0004a0019a0028others(4): Show | a0004c0004a0004c0027a0004c0089others(6): Show | a0004c0004t0001a0004c0027t0001a0004c0089t0001others(6): Show | a0004c0004t0001g0105a0004c0004t0001g0129a0004c0004t0001g0146others(16): Show | 19 | 204 | 0.0931 | -19 | c.210 others(28): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2333/4020 | 2100/3669 | 700/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836395 | GCGGAATC others(12): Show |
G | frameshift_variant | HIGH | HG03710.hp1 | a0051 | a0051c0080 | a0051c0080t0001 | a0051c0080t0001g0084 | 1 | 204 | 0.0049 | -19 | c.197 others(28): Show |
p.Leu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2206/4020 | 1973/3669 | 658/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836753 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG02258.hp2 | a0081 | a0081c0047 | a0081c0047t0001 | a0081c0047t0001g0184 | 1 | 204 | 0.0049 | -19 | c.161 others(28): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1848/4020 | 1615/3669 | 539/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836879 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | NA18964.hp2 | a0088 | a0088c0098 | a0088c0098t0001 | a0088c0098t0001g0097 | 1 | 204 | 0.0049 | -19 | c.148 others(28): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1722/4020 | 1489/3669 | 497/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21849446 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp2 NA19043.hp1 |
a0001a0030 | a0001c0002a0030c0029 | a0001c0002t0001a0030c0029t0001 | a0001c0002t0001g0154a0030c0029t0001g0196 | 2 | 204 | 0.0098 | -19 | c.121 others(36): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NPIPB5_chr16_22505891_22541535 | 22534814 | CTGAGCGT others(12): Show |
C | frameshift_variant | HIGH | HG01496.hp1 NA20300.hp1 |
a0016a0033 | a0016c0006a0033c0031 | a0016c0006t0016a0033c0031t0013 | a0016c0006t0016g0039a0033c0031t0013g0040 | 2 | 47 | 0.0426 | -19 | c.183 others(28): Show |
p.Leu others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4743/6463 | 1832/3402 | 611/1133 | chr16 | TogoVar | ||
NPIPB5_chr16_22505891_22541535 | 22534940 | CCGAGCGT others(12): Show |
C | frameshift_variant | HIGH | HG02040.hp2 HG02155.hp1 |
a0022a0026 | a0022c0029a0026c0022 | a0022c0029t0002a0026c0022t0009 | a0022c0029t0002g0006a0026c0022t0009g0002 | 2 | 47 | 0.0426 | -19 | c.195 others(28): Show |
p.Val others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4870/6463 | 1959/3402 | 653/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB7_chr16_28451329_28477336 | 28455090 | TAAAAAAA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(13): Show |
a0006a0024 | a0006c0008a0006c0011a0006c0014others(1): Show | a0006c0008t0001a0006c0008t0052a0006c0011t0001others(2): Show | a0006c0008t0001g0003a0006c0008t0001g0180a0006c0008t0001g0183others(10): Show | 16 | 382 | 0.0419 | -19 | c.*13 others(30): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1238 | chr16 | TogoVar | ||||||
NPIPB8_chr16_28633065_28663744 | 28659921 | GATTTTTT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02976.hp2 HG03139.hp2 others(2): Show |
a0007a0008a0009 | a0007c0007a0008c0009a0009c0010 | a0007c0007t0002a0008c0009t0003a0009c0010t0003 | a0007c0007t0002g0320a0008c0009t0003g0332a0008c0009t0003g0335others(2): Show | 5 | 351 | 0.0143 | -19 | c.*12 others(30): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 1178 | chr16 | TogoVar | ||||||
NPM2_chr8_22019134_22041897 | 22021909 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(59): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(38): Show | 62 | 434 | 0.1429 | -19 | c.-28 others(30): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2224 | chr8 | TogoVar | ||||||
NPM2_chr8_22019134_22041897 | 22022614 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | NA18944.hp1 NA18962.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0168a0001c0001t0001g0172 | 3 | 434 | 0.0069 | -19 | c.-21 others(30): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 1519 | chr8 | TogoVar | ||||||
NPY4R_chr10_46456099_46470958 | 46466263 | CCTTTCTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0005 | 1 | 290 | 0.0035 | -19 | c.-82 others(28): Show |
NPY4R | ENSG00000204174.8 | transcript | ENST00000374312.5 | protein_coding | 306 | chr10 | TogoVar | ||||||
NQO2_chr6_2994894_3024755 | 2996829 | CCCTTCCT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 446 | 0.0022 | -19 | c.-33 others(30): Show |
NQO2 | ENSG00000124588.22 | transcript | ENST00000380455.11 | protein_coding | 3064 | chr6 | TogoVar | ||||||
NR1D2_chr3_23940286_23985617 | 23982933 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01943.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002a0001c0001t0003g0234a0001c0001t0003g0242others(1): Show | 4 | 380 | 0.0105 | -19 | c.*55 others(30): Show |
NR1D2 | ENSG00000174738.13 | transcript | ENST00000312521.9 | protein_coding | 2317 | chr3 | TogoVar | ||||||
NR1H4_chr12_100468866_100569414 | 100513798 | CAGAAAGG others(12): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 308 | 0.0033 | -19 | c.445 others(36): Show |
NR1H4 | ENSG00000012504.15 | transcript | ENST00000392986.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NR1H4_chr12_100468866_100569414 | 100513852 | GGAAGGAA others(12): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 308 | 0.0033 | -19 | c.445 others(36): Show |
NR1H4 | ENSG00000012504.15 | transcript | ENST00000392986.8 | protein_coding | 4/10 | chr12 | TogoVar | ||||||
NR2E1_chr6_108161022_108193805 | 108168766 | ACTGGGTC others(12): Show |
A | intron_variant | MODIFIER | NA18967.hp2 NA18982.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0011 | a0001c0001t0002g0036a0001c0001t0008g0036a0001c0001t0011g0147 | 3 | 392 | 0.0077 | -19 | c.25+ others(34): Show |
NR2E1 | ENSG00000112333.12 | transcript | ENST00000368986.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NR2F1_chr5_93578222_93599611 | 93581723 | TCTCTCTC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 294 | 0.0034 | -19 | c.-33 others(30): Show |
NR2F1 | ENSG00000175745.15 | transcript | ENST00000327111.8 | protein_coding | 1498 | chr5 | TogoVar | ||||||
NR2F1_chr5_93578222_93599611 | 93581729 | TCTCTCCC others(12): Show |
T | upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 294 | 0.0034 | -19 | c.-32 others(30): Show |
NR2F1 | ENSG00000175745.15 | transcript | ENST00000327111.8 | protein_coding | 1492 | chr5 | TogoVar | ||||||
NR2F1_chr5_93578222_93599611 | 93581836 | CCTCTCTC others(12): Show |
C | upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 294 | 0.0034 | -19 | c.-31 others(30): Show |
NR2F1 | ENSG00000175745.15 | transcript | ENST00000327111.8 | protein_coding | 1385 | chr5 | TogoVar | ||||||
NR2F2_chr15_96325700_96345258 | 96343524 | GGCCCAGT others(12): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0028 | 1 | 448 | 0.0022 | -19 | c.*59 others(30): Show |
NR2F2 | ENSG00000185551.15 | transcript | ENST00000394166.8 | protein_coding | 3267 | chr15 | TogoVar | ||||||
NR3C2_chr4_148073764_148447414 | 148097227 | CTGTCATA others(12): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 | 1 | 170 | 0.0059 | -19 | c.280 others(40): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
NR5A1_chr9_124476236_124512399 | 124510455 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 356 | 0.0028 | -19 | c.-32 others(30): Show |
NR5A1 | ENSG00000136931.10 | transcript | ENST00000373588.9 | protein_coding | 3057 | chr9 | TogoVar | ||||||
NR5A2_chr1_200022710_200182415 | 200038949 | ACCCCTCA others(12): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0062 | 1 | 286 | 0.0035 | -19 | c.65- others(32): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NRAP_chr10_113583714_113669041 | 113607399 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02630.hp1 others(1): Show |
a0010a0045a0062 | a0010c0008a0045c0036a0062c0063 | a0010c0008t0002a0045c0036t0002a0045c0036t0008others(1): Show | a0010c0008t0002g0242a0045c0036t0002g0267a0045c0036t0008g0057others(1): Show | 4 | 398 | 0.0101 | -19 | c.370 others(37): Show |
NRAP | ENSG00000197893.14 | transcript | ENST00000359988.4 | protein_coding | 32/41 | chr10 | TogoVar | ||||||
NRBP1_chr2_27423631_27447259 | 27427290 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 276 | 0.0036 | -19 | c.-14 others(30): Show |
NRBP1 | ENSG00000115216.14 | transcript | ENST00000379852.8 | protein_coding | 1340 | chr2 | TogoVar | ||||||
NRBP1_chr2_27423631_27447259 | 27427301 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02735.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 276 | 0.0073 | -19 | c.-14 others(30): Show |
NRBP1 | ENSG00000115216.14 | transcript | ENST00000379852.8 | protein_coding | 1329 | chr2 | TogoVar | ||||||
NRBP1_chr2_27423631_27447259 | 27427303 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02698.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0002g0053 | 4 | 276 | 0.0145 | -19 | c.-14 others(30): Show |
NRBP1 | ENSG00000115216.14 | transcript | ENST00000379852.8 | protein_coding | 1327 | chr2 | TogoVar | ||||||
NRBP1_chr2_27423631_27447259 | 27439995 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 276 | 0.0036 | -19 | c.103 others(36): Show |
NRBP1 | ENSG00000115216.14 | transcript | ENST00000379852.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NRG1_chr8_32543311_32779046 | 32772035 | AAATATGT others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02080.hp1 HG02523.hp2 HG03942.hp1 others(3): Show |
a0003a0006 | a0003c0003a0006c0006a0006c0017 | a0003c0003t0020a0003c0003t0075a0003c0003t0125others(2): Show | a0003c0003t0020g0065a0003c0003t0020g0071a0003c0003t0075g0074others(3): Show | 6 | 244 | 0.0246 | -19 | c.*76 others(30): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 12/12 | 7635 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
NRG2_chr5_139841781_140048299 | 139938877 | AGAGAAGG others(12): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 188 | 0.0053 | -19 | c.701 others(38): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
NRG2_chr5_139841781_140048299 | 140037936 | TGAAAAAC others(12): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp2 HG03453.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0002c0002t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0172others(3): Show | 6 | 188 | 0.0319 | -19 | c.700 others(36): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
NRG3_chr10_81870194_82992178 | 82583268 | TTCTCCTT others(12): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG04204.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0053a0001c0002t0002g0035 | 2 | 66 | 0.0303 | -19 | c.954 others(40): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NRM_chr6_30683049_30695984 | 30692186 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 6 | 443 | 0.0135 | -19 | c.-12 others(30): Show |
NRM | ENSG00000137404.15 | transcript | ENST00000376421.7 | protein_coding | 1203 | chr6 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50026859 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01123.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(11): Show | a0001c0001t0001g0040a0001c0001t0006g0054a0001c0001t0009g0041others(11): Show | 14 | 116 | 0.1207 | -19 | c.412 others(40): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50098830 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0092 | 1 | 116 | 0.0086 | -19 | c.354 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50219988 | TATATAAT others(12): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01099.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(21): Show | a0001c0001t0001g0036a0001c0001t0001g0040a0001c0001t0004g0011others(31): Show | 34 | 116 | 0.2931 | -19 | c.354 others(40): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50277495 | TCTTTTTC others(12): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01099.hp1 others(37): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(25): Show | a0001c0001t0001g0036a0001c0001t0001g0040a0001c0001t0001g0055others(37): Show | 40 | 116 | 0.3448 | -19 | c.336 others(40): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50495361 | TGTGTGTG others(12): Show |
T | intron_variant | MODIFIER | NA18948.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0061a0001c0002t0040 | a0001c0001t0061g0074a0001c0002t0040g0096 | 2 | 116 | 0.0172 | -19 | c.307 others(36): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 15/22 | chr2 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 78203822 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0011others(2): Show | a0001c0001t0002g0018a0001c0001t0003g0013a0001c0002t0011g0016others(2): Show | 5 | 24 | 0.2083 | -19 | c.-70 others(40): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NRXN3_chr14_78165373_79873291 | 78993834 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0006a0001c0007 | a0001c0006t0017a0001c0007t0002 | a0001c0006t0017g0001a0001c0007t0002g0010a0001c0007t0002g0020 | 3 | 24 | 0.1250 | -19 | c.326 others(38): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |