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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NKAIN2_chr6_123798865_124830640 | 124028857 | CTATATAT others(31): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01243.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(25): Show |
28 | 58 | 0.4828 | -38 | c.54+ others(57): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62345474 | CACATATA others(31): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00738.hp1 others(21): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0011others(19): Show | a0001c0001t0006g0122 a0001c0001t0009g0012 a0001c0001t0011g0016 others(21): Show |
24 | 144 | 0.1667 | -38 | c.54+ others(55): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NKX2-5_chr5_173227109_173240206 | 173237843 | CCAAAAAG others(31): Show |
C | upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 428 | 0.0023 | -38 | c.-27 others(49): Show |
NKX2-5 | ENSG00000183072.10 | transcript | ENST00000329198.5 | protein_coding | 2638 | chr5 | TogoVar | |||||||
NLGN4X_chrX_5885042_6233867 | 5925843 | TACATACA others(31): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(5): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0003a0001c0007t0001 | a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0042 others(5): Show |
8 | 126 | 0.0635 | -38 | c.626 others(57): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 3/5 | chrX | TogoVar | |||||||
NLGN4X_chrX_5885042_6233867 | 6021039 | TCTCTCTC others(31): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG03654.hp1 HG04204.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0098 a0001c0001t0001g0108 others(2): Show |
5 | 124 | 0.0403 | -38 | c.625 others(55): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 3/5 | chrX | TogoVar | |||||||
NLGN4X_chrX_5885042_6233867 | 6116566 | GCCTCAGC others(31): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01981.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0008 | a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0004g0007 others(5): Show |
8 | 126 | 0.0635 | -38 | c.472 others(57): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 2/5 | chrX | TogoVar | |||||||
NLRP7_chr19_54918515_54952530 | 54934288 | GTTGGTCT others(31): Show |
G | intron_variant | MODIFIER | NA18968.hp1 | a0025 | a0025c0029 | a0025c0029t0001 | a0025c0029t0001g0183 | 1 | 418 | 0.0024 | -38 | c.247 others(55): Show |
NLRP7 | ENSG00000167634.12 | transcript | ENST00000592784.6 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55986440 | GCACTCTC others(31): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0050 | 1 | 345 | 0.0029 | -38 | c.304 others(57): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NME1_chr17_51148559_51167168 | 51150834 | CGTCTCAA others(31): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 382 | 0.0026 | -38 | c.-28 others(49): Show |
NME1 | ENSG00000239672.8 | transcript | ENST00000393196.8 | protein_coding | 2724 | chr17 | TogoVar | |||||||
NME7_chr1_169127531_169372797 | 169342959 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0283 a0001c0002t0001g0284 |
2 | 300 | 0.0067 | -38 | c.4-1 others(53): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848214 | AGAAGAAG others(31): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 382 | 0.0026 | -38 | c.-75 others(47): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 382 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848217 | AGAAGAAG others(31): Show |
A | upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 382 | 0.0026 | -38 | c.-75 others(47): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 379 | chr7 | TogoVar | |||||||
NMNAT2_chr1_183243237_183423380 | 183389814 | AAGAAAGA others(31): Show |
A | intron_variant | MODIFIER | NA18977.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0064 |
2 | 255 | 0.0078 | -38 | c.85+ others(55): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
NMNAT3_chr3_139555191_139682972 | 139596916 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 53 | 0.0189 | -38 | c.110 others(57): Show |
NMNAT3 | ENSG00000163864.18 | transcript | ENST00000704800.1 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
NMT2_chr10_15100770_15173693 | 15112202 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0074 | 1 | 262 | 0.0038 | -38 | c.133 others(55): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 10/11 | chr10 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132156553 | AACCACTA others(31): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01106.hp1 others(64): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(50): Show |
67 | 292 | 0.2295 | -38 | c.*41 others(49): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 4086 | chr12 | TogoVar | |||||||
NOP10_chr15_34336719_34348136 | 34345011 | CTGTTTAA others(31): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -38 | c.-19 others(49): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 1876 | chr15 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117322278 | TTCTTCCT others(31): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0006 | a0001c0006t0141 | a0001c0006t0141g0100 | 1 | 292 | 0.0034 | -38 | c.725 others(55): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 2/28 | chr12 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117359876 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | NA18948.hp1 | a0007 | a0007c0018 | a0007c0018t0003 | a0007c0018t0003g0133 | 1 | 58 | 0.0172 | -38 | c.-42 others(57): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | |||||||
NOTUM_chr17_81947507_81966187 | 81952398 | GAGGAGGG others(31): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp1 HG03669.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 a0001c0002t0001g0041 |
2 | 382 | 0.0052 | -38 | c.*52 others(47): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 108 | chr17 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 33498931 | AGAGAGTG others(31): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 | 1 | 65 | 0.0154 | -38 | c.469 others(57): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPNT_chr4_105890471_105976671 | 105898290 | TTCTCTCT others(31): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0003 | a0003c0003t0015 | a0003c0003t0015g0129 | 1 | 227 | 0.0044 | -38 | c.172 others(53): Show |
NPNT | ENSG00000168743.13 | transcript | ENST00000379987.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NPR3_chr5_32706321_32796720 | 32728829 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0125 | 1 | 306 | 0.0033 | -38 | c.892 others(55): Show |
NPR3 | ENSG00000113389.16 | transcript | ENST00000265074.13 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NQO2_chr6_2994894_3024755 | 3018012 | AGTGCACA others(31): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0200 | 1 | 444 | 0.0023 | -38 | c.519 others(55): Show |
NQO2 | ENSG00000124588.22 | transcript | ENST00000380455.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NR3C1_chr5_143272934_143408686 | 143345025 | TGTGTGTG others(31): Show |
T | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 264 | 0.0038 | -38 | c.118 others(59): Show |
NR3C1 | ENSG00000113580.15 | transcript | ENST00000394464.7 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108459813 | TGGGAATA others(31): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 206 | 0.0049 | -38 | c.-39 others(49): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3378 | chr7 | TogoVar | |||||||
NRN1_chr6_5992999_6011925 | 5994907 | GCCCCTGG others(31): Show |
G | downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 460 | 0.0022 | -38 | c.*40 others(49): Show |
NRN1 | ENSG00000124785.9 | transcript | ENST00000244766.7 | protein_coding | 3091 | chr6 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50239662 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0017a0001c0001t0055others(2): Show | a0001c0001t0006g0021 a0001c0001t0006g0027 a0001c0001t0017g0073 others(3): Show |
6 | 19 | 0.3158 | -38 | c.336 others(57): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 78943619 | AAAATATA others(31): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0008a0001c0002t0011others(1): Show | a0001c0001t0002g0018 a0001c0001t0008g0008 a0001c0002t0011g0016 others(1): Show |
4 | 23 | 0.1739 | -38 | c.227 others(59): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79740710 | TTTTATAT others(31): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0004 | a0001c0001t0002g0018 a0001c0008t0004g0014 |
2 | 9 | 0.2222 | -38 | c.401 others(59): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NSD2_chr4_1866393_1987192 | 1951443 | TACACACA others(31): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0065 a0001c0001t0011g0076 |
2 | 21 | 0.0952 | -38 | c.201 others(55): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NSDHL_chrX_152826063_152874729 | 152872647 | TGTTTGTG others(31): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0167 a0001c0001t0007g0166 |
2 | 322 | 0.0062 | -38 | c.*35 others(49): Show |
NSDHL | ENSG00000147383.11 | transcript | ENST00000370274.8 | protein_coding | 2919 | chrX | TogoVar | |||||||
NSMCE2_chr8_125086860_125372120 | 125149376 | TACTTTGG others(31): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 242 | 0.0041 | -38 | c.158 others(55): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NSMF_chr9_137442570_137464334 | 137454033 | AGGGAGGA others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(162): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(41): Show |
165 | 403 | 0.4094 | -38 | c.833 others(53): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 7/15 | chr9 | TogoVar | |||||||
NSMF_chr9_137442570_137464334 | 137454221 | GAGGGGAG others(31): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0047 | 1 | 410 | 0.0024 | -38 | c.832 others(53): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 7/15 | chr9 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131392222 | CAGGGATG others(31): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03130.hp2 HG03516.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0002g0053 others(4): Show |
7 | 80 | 0.0875 | -38 | c.82+ others(55): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131789598 | GAAGAAGA others(31): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 86 | 0.0116 | -38 | c.83- others(57): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTPCR_chr1_232945611_232988882 | 232976701 | TTGACGCA others(31): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 374 | 0.0027 | -38 | c.505 others(55): Show |
NTPCR | ENSG00000135778.12 | transcript | ENST00000366628.10 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62757917 | ACTGAGCC others(31): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 314 | 0.0032 | -38 | c.917 others(53): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62758060 | CGTCTCTG others(31): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG03139.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0179 a0001c0001t0014g0289 a0001c0001t0014g0290 |
3 | 314 | 0.0096 | -38 | c.917 others(53): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62758179 | GTGTGCCT others(31): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(222): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0007a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(210): Show |
225 | 312 | 0.7212 | -38 | c.917 others(51): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62767377 | AGAGAGAA others(31): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0223 | 1 | 314 | 0.0032 | -38 | c.*71 others(49): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 4607 | chr20 | TogoVar | |||||||
NUDT12_chr5_103543855_103567789 | 103566739 | GAGCCAAG others(31): Show |
G | upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 436 | 0.0023 | -38 | c.-40 others(49): Show |
NUDT12 | ENSG00000112874.10 | transcript | ENST00000230792.7 | protein_coding | 3951 | chr5 | TogoVar | |||||||
NUDT2_chr9_34324569_34348699 | 34346382 | ATATATAT others(31): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(20): Show |
50 | 434 | 0.1152 | -38 | c.*29 others(49): Show |
NUDT2 | ENSG00000164978.18 | transcript | ENST00000379158.7 | protein_coding | 2684 | chr9 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73352455 | CACATACA others(31): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 |
3 | 285 | 0.0105 | -38 | c.126 others(55): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NUP160_chr11_47773118_47853350 | 47850823 | CATATATA others(31): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0213 a0001c0001t0001g0214 |
3 | 61 | 0.0492 | -38 | c.-25 others(49): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2474 | chr11 | TogoVar | |||||||
NUP210L_chr1_153987690_154160073 | 154125720 | AGGAAGGA others(31): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 287 | 0.0035 | -38 | c.132 others(55): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13311530 | TACAGTGG others(31): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02615.hp2 others(8): Show |
a0003a0009a0021 | a0003c0006a0009c0009a0021c0018 | a0003c0006t0006a0009c0009t0001a0021c0018t0006 | a0003c0006t0006g0029 a0003c0006t0006g0030 a0003c0006t0006g0031 others(7): Show |
11 | 324 | 0.0340 | -38 | c.*61 others(49): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4704 | chr3 | TogoVar | |||||||
NUP50_chr22_45158925_45193017 | 45169450 | CACAAACT others(31): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 430 | 0.0023 | -38 | c.69+ others(53): Show |
NUP50 | ENSG00000093000.19 | transcript | ENST00000347635.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NUP50_chr22_45158925_45193017 | 45181491 | TCAAGTGG others(31): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(141): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0007others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(19): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 others(81): Show |
144 | 430 | 0.3349 | -38 | c.108 others(55): Show |
NUP50 | ENSG00000093000.19 | transcript | ENST00000347635.9 | protein_coding | 6/7 | chr22 | TogoVar |