view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOP14_chr4_2932936_2968406 | 2947957 | ATCTGCCA others(14): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 420 | 0.0024 | -21 | c.141 others(38): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 9/17 | chr4 | TogoVar | |||||||
NOP56_chr20_2647632_2663393 | 2648929 | AAATAATA others(14): Show |
A | upstream_gene_variant | MODIFIER | NA18955.hp1 NA18978.hp2 NA18990.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0002t0001g0037 |
3 | 95 | 0.0316 | -21 | c.-37 others(32): Show |
NOP56 | ENSG00000101361.17 | transcript | ENST00000329276.10 | protein_coding | 3702 | chr20 | TogoVar | |||||||
NOTCH2NLC_chr1_149385621_149476833 | 149458395 | AACCTTCA others(14): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0114 | 1 | 258 | 0.0039 | -21 | c.469 others(38): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTUM_chr17_81947507_81966187 | 81962881 | ATGGGTGT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 382 | 0.0026 | -21 | c.-19 others(32): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 1695 | chr17 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89438797 | ATATATTA others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(106): Show |
109 | 286 | 0.3811 | -21 | c.475 others(38): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89438825 | ATATCTTA others(14): Show |
A | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0041 | 1 | 284 | 0.0035 | -21 | c.475 others(38): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | |||||||
NOXA1_chr9_137418393_137439406 | 137428759 | GCCAGGTG others(14): Show |
G | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 402 | 0.0025 | -21 | c.370 others(36): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 3/13 | chr9 | TogoVar | |||||||
NPAS1_chr19_47014837_47050775 | 47033975 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01123.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0002t0001a0001c0017t0001 | a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0076 others(13): Show |
17 | 38 | 0.4474 | -21 | c.522 others(38): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100873268 | AAAAATAC others(14): Show |
A | intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 285 | 0.0035 | -21 | c.-22 others(40): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33177648 | AGCATTGA others(14): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022a0001c0001t0029 | a0001c0001t0003g0056 a0001c0001t0022g0036 a0001c0001t0029g0035 |
3 | 90 | 0.0333 | -21 | c.141 others(40): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 33328446 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01433.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0007a0001c0009t0041 | a0001c0001t0007g0074 a0001c0009t0041g0087 |
2 | 5 | 0.4000 | -21 | c.386 others(40): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPC1_chr18_23526442_23591506 | 23571231 | TTAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0003 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | 376 | 0.0080 | -21 | c.287 others(36): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | TogoVar | |||||||
NPIPB2_chr16_11922373_11947045 | 11932775 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0029 | 2 | 43 | 0.0465 | -21 | c.488 others(36): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/7 | chr16 | TogoVar | |||||||
NPIPB4_chr16_21829582_21862756 | 21849446 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 NA18966.hp1 |
a0005a0018 | a0005c0004a0018c0023 | a0005c0004t0001a0018c0023t0001 | a0005c0004t0001g0144 a0018c0023t0001g0019 a0018c0023t0001g0045 |
3 | 5 | 0.6000 | -21 | c.121 others(38): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB6_chr16_28337517_28368508 | 28356769 | GAAGGGGA others(14): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(23): Show |
a0004a0019a0027 | a0004c0004a0019c0025a0027c0029 | a0004c0004t0001a0019c0025t0001a0027c0029t0001 | a0004c0004t0001g0004 a0004c0004t0001g0045 a0004c0004t0001g0046 others(21): Show |
26 | 358 | 0.0726 | -21 | c.121 others(38): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB7_chr16_28451329_28477336 | 28455090 | TAAAAAAA others(14): Show |
T | downstream_gene_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 1 | 12 | 0.0833 | -21 | c.*13 others(32): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1238 | chr16 | TogoVar | |||||||
NPIPB8_chr16_28633065_28663744 | 28659921 | GATTTTTT others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02976.hp1 NA18522.hp1 others(2): Show |
a0001a0007a0031 | a0001c0001a0007c0007a0031c0051 | a0001c0001t0001a0007c0007t0002a0031c0051t0003 | a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0060 others(2): Show |
5 | 70 | 0.0714 | -21 | c.*12 others(32): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 1178 | chr16 | TogoVar | |||||||
NPIPB8_chr16_28633065_28663744 | 28659922 | ATTTTTTT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001a0002a0028 | a0001c0001a0002c0002a0028c0019 | a0001c0001t0001a0002c0002t0002a0028c0019t0002 | a0001c0001t0001g0251 a0002c0002t0002g0323 a0002c0002t0002g0324 others(1): Show |
4 | 154 | 0.0260 | -21 | c.*12 others(32): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 1179 | chr16 | TogoVar | |||||||
NPL_chr1_182784773_182835384 | 182790613 | TTTGTTGT others(14): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG03139.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0280 |
3 | 103 | 0.0291 | -21 | c.-72 others(36): Show |
NPL | ENSG00000135838.14 | transcript | ENST00000367553.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NPM2_chr8_22019134_22041897 | 22021909 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18981.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0118 a0001c0001t0007g0059 a0001c0001t0007g0227 |
3 | 16 | 0.1875 | -21 | c.-28 others(32): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2224 | chr8 | TogoVar | |||||||
NPM2_chr8_22019134_22041897 | 22022614 | TAAAAAAA others(14): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01192.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0136 others(1): Show |
5 | 102 | 0.0490 | -21 | c.-21 others(32): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 1519 | chr8 | TogoVar | |||||||
NPR3_chr5_32706321_32796720 | 32707950 | ACTTGCCA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 318 | 0.0031 | -21 | c.-38 others(32): Show |
NPR3 | ENSG00000113389.16 | transcript | ENST00000265074.13 | protein_coding | 3370 | chr5 | TogoVar | |||||||
NPR3_chr5_32706321_32796720 | 32782339 | ACCCTGGC others(14): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(10): Show | a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0027 others(34): Show |
37 | 318 | 0.1164 | -21 | c.129 others(38): Show |
NPR3 | ENSG00000113389.16 | transcript | ENST00000265074.13 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 96890 | AATCCAAA others(14): Show |
A | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 348 | 0.0029 | -21 | c.924 others(38): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
NPY4R_chr10_46456099_46470958 | 46466242 | TCTTTCTT others(14): Show |
T | upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 290 | 0.0034 | -21 | c.-80 others(30): Show |
NPY4R | ENSG00000204174.8 | transcript | ENST00000374312.5 | protein_coding | 285 | chr10 | TogoVar | |||||||
NR0B1_chrX_30299206_30314390 | 30310810 | CTTCCTTC others(14): Show |
C | upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 320 | 0.0031 | -21 | c.-14 others(32): Show |
NR0B1 | ENSG00000169297.8 | transcript | ENST00000378970.5 | protein_coding | 1421 | chrX | TogoVar | |||||||
NR1D2_chr3_23940286_23985617 | 23982933 | CTTTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG02738.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0013a0001c0002t0010a0003c0006t0017 | a0001c0001t0013g0308 a0001c0001t0013g0309 a0001c0001t0013g0310 others(3): Show |
6 | 83 | 0.0723 | -21 | c.*55 others(32): Show |
NR1D2 | ENSG00000174738.13 | transcript | ENST00000312521.9 | protein_coding | 2317 | chr3 | TogoVar | |||||||
NR2F1_chr5_93578222_93599611 | 93581727 | TCTCTCTC others(14): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 273 | 0.0037 | -21 | c.-32 others(32): Show |
NR2F1 | ENSG00000175745.15 | transcript | ENST00000327111.8 | protein_coding | 1494 | chr5 | TogoVar | |||||||
NR2F1_chr5_93578222_93599611 | 93581732 | CTCCCCCT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 291 | 0.0034 | -21 | c.-32 others(32): Show |
NR2F1 | ENSG00000175745.15 | transcript | ENST00000327111.8 | protein_coding | 1489 | chr5 | TogoVar | |||||||
NR5A1_chr9_124476236_124512399 | 124510443 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 350 | 0.0029 | -21 | c.-32 others(32): Show |
NR5A1 | ENSG00000136931.10 | transcript | ENST00000373588.9 | protein_coding | 3045 | chr9 | TogoVar | |||||||
NR5A1_chr9_124476236_124512399 | 124510455 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 263 | 0.0038 | -21 | c.-32 others(32): Show |
NR5A1 | ENSG00000136931.10 | transcript | ENST00000373588.9 | protein_coding | 3057 | chr9 | TogoVar | |||||||
NR6A1_chr9_124512275_124776311 | 124738357 | TCAGGAAA others(14): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0060 | a0001c0001t0046g0008 a0001c0001t0060g0027 |
2 | 232 | 0.0086 | -21 | c.101 others(38): Show |
NR6A1 | ENSG00000148200.17 | transcript | ENST00000487099.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
NRBF2_chr10_63128328_63160024 | 63133977 | TCACTTCC others(14): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01358.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0103 |
3 | 325 | 0.0092 | -21 | c.30+ others(34): Show |
NRBF2 | ENSG00000148572.16 | transcript | ENST00000277746.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NRBP1_chr2_27423631_27447259 | 27427297 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01934.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0014 |
2 | 265 | 0.0075 | -21 | c.-14 others(32): Show |
NRBP1 | ENSG00000115216.14 | transcript | ENST00000379852.8 | protein_coding | 1333 | chr2 | TogoVar | |||||||
NRBP1_chr2_27423631_27447259 | 27427299 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 251 | 0.0040 | -21 | c.-14 others(32): Show |
NRBP1 | ENSG00000115216.14 | transcript | ENST00000379852.8 | protein_coding | 1331 | chr2 | TogoVar | |||||||
NRBP1_chr2_27423631_27447259 | 27427301 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0023 |
3 | 250 | 0.0120 | -21 | c.-14 others(32): Show |
NRBP1 | ENSG00000115216.14 | transcript | ENST00000379852.8 | protein_coding | 1329 | chr2 | TogoVar | |||||||
NRBP1_chr2_27423631_27447259 | 27439995 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(95): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(27): Show |
98 | 103 | 0.9515 | -21 | c.103 others(38): Show |
NRBP1 | ENSG00000115216.14 | transcript | ENST00000379852.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NRDC_chr1_51784210_51883727 | 51870767 | TGAATACA others(14): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0003t0001a0001c0008t0001 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(7): Show |
10 | 242 | 0.0413 | -21 | c.341 others(38): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90335822 | AGTGGCTC others(14): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0066 | 1 | 342 | 0.0029 | -21 | c.-39 others(32): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 3882 | chr14 | TogoVar | |||||||
NRG1_chr8_32543311_32779046 | 32772035 | AAATATGT others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(25): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0001a0003c0003t0014a0003c0003t0024others(19): Show | a0003c0003t0001g0016 a0003c0003t0001g0022 a0003c0003t0001g0030 others(25): Show |
28 | 233 | 0.1202 | -21 | c.*76 others(32): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 12/12 | 7635 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NRIP3_chr11_8975576_9009001 | 8977325 | TCCCTCTC others(14): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0038 | a0001c0001t0033g0055 a0001c0001t0038g0056 |
2 | 129 | 0.0155 | -21 | c.*61 others(32): Show |
NRIP3 | ENSG00000175352.12 | transcript | ENST00000309166.8 | protein_coding | 3250 | chr11 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33320063 | AGCACTTT others(14): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0023a0001c0009t0002 | a0001c0002t0023g0176 a0001c0009t0002g0183 |
2 | 260 | 0.0077 | -21 | c.248 others(40): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 2/16 | chr10 | TogoVar | |||||||
NRTN_chr19_5800067_5833324 | 5819663 | CAAAAATA others(14): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 280 | 0.0036 | -21 | c.-39 others(40): Show |
NRTN | ENSG00000171119.3 | transcript | ENST00000303212.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50020027 | TTCAGAGG others(14): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0014a0001c0003t0002a0001c0003t0014others(2): Show | a0001c0001t0014g0020 a0001c0003t0002g0022 a0001c0003t0014g0040 others(2): Show |
5 | 116 | 0.0431 | -21 | c.412 others(42): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50098830 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01169.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0004g0011 others(16): Show |
19 | 22 | 0.8636 | -21 | c.354 others(40): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50399789 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01433.hp2 HG02132.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0011a0001c0001t0029others(2): Show | a0001c0001t0001g0051 a0001c0001t0011g0064 a0001c0001t0029g0018 others(2): Show |
5 | 19 | 0.2632 | -21 | c.336 others(42): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50495359 | TGTGTGTG others(14): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01934.hp2 HG01952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0003g0026 a0001c0001t0005g0045 a0001c0001t0009g0030 others(1): Show |
4 | 116 | 0.0345 | -21 | c.307 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 15/22 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 78203820 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02922.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0002t0007a0001c0004t0006 | a0001c0001t0008g0008 a0001c0002t0007g0009 a0001c0004t0006g0021 |
3 | 24 | 0.1250 | -21 | c.-70 others(42): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79049054 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01081.hp2 NA19043.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0005 | a0001c0004t0001g0005 a0001c0004t0005g0002 |
2 | 20 | 0.1000 | -21 | c.326 others(42): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177158281 | CTTTCTTT others(14): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0203 a0001c0001t0008g0172 |
2 | 293 | 0.0068 | -21 | c.927 others(40): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |