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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPIPB4_chr16_21829582_21862756 | 21836395 | GCGGAATC others(12): Show |
G | frameshift_variant | HIGH | HG03710.hp1 | a0049 | a0049c0066 | a0049c0066t0001 | a0049c0066t0001g0089 | 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 | a0040 | a0040c0034 | a0040c0034t0001 | a0040c0034t0001g0181 | 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 | a0056 | a0056c0073 | a0056c0073t0001 | a0056c0073t0001g0096 | 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 |
a0002a0022 | a0002c0001a0022c0016 | a0002c0001t0001a0022c0016t0001 | a0002c0001t0001g0143 a0022c0016t0001g0111 |
2 | 4 | 0.5000 | -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 |
a0011a0028 | a0011c0008a0028c0027 | a0011c0008t0016a0028c0027t0013 | a0011c0008t0016g0039 a0028c0027t0013g0040 |
2 | 46 | 0.0435 | -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 |
a0016a0017 | a0016c0024a0017c0018 | a0016c0024t0002a0017c0018t0009 | a0016c0024t0002g0006 a0017c0018t0009g0002 |
2 | 46 | 0.0435 | -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 |
a0005a0013 | a0005c0008a0005c0010a0005c0014others(1): Show | a0005c0008t0001a0005c0010t0001a0005c0014t0001others(1): Show | a0005c0008t0001g0004 a0005c0008t0001g0012 a0005c0008t0001g0064 others(9): Show |
16 | 27 | 0.5926 | -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 | a0007c0007t0002g0319 a0008c0009t0003g0331 a0008c0009t0003g0334 others(2): Show |
5 | 70 | 0.0714 | -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(58): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(38): Show |
61 | 74 | 0.8243 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0178 a0001c0001t0001g0182 |
3 | 100 | 0.0300 | -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 | 243 | 0.0041 | -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 | 337 | 0.0030 | -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 | a0001c0001t0003g0002 a0001c0001t0003g0234 a0001c0001t0003g0242 others(1): Show |
4 | 81 | 0.0494 | -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 | a0001c0001t0001g0110 | 1 | 305 | 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 | a0001c0001t0001g0155 | 1 | 306 | 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 | a0001c0001t0002g0038 a0001c0001t0008g0038 a0001c0001t0011g0141 |
3 | 390 | 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 | 281 | 0.0036 | -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 | 260 | 0.0038 | -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 | 289 | 0.0035 | -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 | 446 | 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 | 168 | 0.0060 | -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 | 263 | 0.0038 | -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 | 284 | 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 |
a0010a0037a0062 | a0010c0008a0037c0036a0062c0055 | a0010c0008t0002a0037c0036t0002a0037c0036t0008others(1): Show | a0010c0008t0002g0239 a0037c0036t0002g0265 a0037c0036t0008g0059 others(1): Show |
4 | 22 | 0.1818 | -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 | 274 | 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 | 249 | 0.0080 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0053 |
4 | 267 | 0.0150 | -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 | 6 | 0.1667 | -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 | a0003c0003t0025a0003c0003t0077a0003c0003t0122others(2): Show | a0003c0003t0025g0065 a0003c0003t0025g0071 a0003c0003t0077g0074 others(3): Show |
6 | 211 | 0.0284 | -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 | a0001c0001t0001g0130 | 1 | 186 | 0.0054 | -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 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0171 others(3): Show |
6 | 186 | 0.0323 | -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 | a0001c0001t0001g0053 a0001c0002t0002g0035 |
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 | 442 | 0.0136 | -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 |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(11): Show | a0001c0001t0001g0051 a0001c0001t0006g0055 a0001c0001t0009g0054 others(11): Show |
14 | 45 | 0.3111 | -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 | a0001c0002t0054g0096 | 1 | 4 | 0.2500 | -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 | a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0004g0011 others(31): Show |
34 | 115 | 0.2957 | -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 |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(25): Show | a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0056 others(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 | a0001c0001t0061g0075 a0001c0002t0040g0083 |
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 | a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0002t0011g0016 others(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 | a0001c0006t0017g0001 a0001c0007t0002g0010 a0001c0007t0002g0020 |
3 | 7 | 0.4286 | -19 | c.326 others(38): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79049056 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0006 | 1 | 24 | 0.0417 | -19 | c.326 others(40): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177158274 | TTTCTTTC others(12): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 | 1 | 296 | 0.0034 | -19 | c.927 others(38): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177158277 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0008 | a0008c0012 | a0008c0012t0061 | a0008c0012t0061g0140 | 1 | 295 | 0.0034 | -19 | c.927 others(38): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
NSD2_chr4_1866393_1987192 | 1910094 | TTTTGGAA others(12): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0102 | 1 | 128 | 0.0078 | -19 | c.760 others(36): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSD2_chr4_1866393_1987192 | 1934873 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0011 | 1 | 128 | 0.0078 | -19 | c.155 others(36): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSD2_chr4_1866393_1987192 | 1951505 | CACACACA others(12): Show |
C | intron_variant | MODIFIER | HG03453.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0062 |
2 | 127 | 0.0157 | -19 | c.201 others(36): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSMCE2_chr8_125086860_125372120 | 125170376 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01255.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 others(1): Show |
4 | 20 | 0.2000 | -19 | c.265 others(38): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NSMCE2_chr8_125086860_125372120 | 125256922 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0160 a0001c0001t0001g0161 others(4): Show |
7 | 70 | 0.1000 | -19 | c.418 others(38): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NSMCE2_chr8_125086860_125372120 | 125367509 | TAAAAAAA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 15 | 0.0667 | -19 | c.*62 others(28): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 390 | chr8 | TogoVar | |||||||
NSMF_chr9_137442570_137464334 | 137461874 | CCCGAAGA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 412 | 0.0024 | -19 | c.-27 others(30): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 2541 | chr9 | TogoVar |