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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NGEF_chr2_232873701_233018256 | 232890173 | T | TCTGTCAG others(32): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0023 others(45): Show |
49 | 312 | 0.1571 | 39 | c.127 others(58): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 8/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995495 | T | TATATACA others(32): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 HG02145.hp2 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0046 a0001c0001t0001g0102 a0001c0001t0001g0104 others(28): Show |
31 | 246 | 0.1260 | 39 | c.-75 others(58): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHSL2_chrX_71905845_72158286 | 72048987 | G | GAGAAGAA others(32): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03098.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0020 | a0002c0002t0003g0141 a0002c0002t0020g0065 |
2 | 155 | 0.0129 | 39 | c.281 others(58): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17521366 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0114 | 1 | 146 | 0.0068 | 39 | c.565 others(60): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NID2_chr14_51999809_52074059 | 52030481 | A | AAAAGAAA others(32): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01978.hp1 HG03654.hp2 |
a0004a0024 | a0004c0012a0024c0067 | a0004c0012t0002a0024c0067t0002 | a0004c0012t0002g0302 a0004c0012t0002g0304 a0024c0067t0002g0305 |
3 | 307 | 0.0098 | 39 | c.225 others(56): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 9/21 | chr14 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 37 | 0.0270 | 39 | c.33+ others(56): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 37 | 0.0270 | 39 | c.33+ others(56): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25469328 | A | ACCCCCCT others(32): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0235 | 1 | 260 | 0.0038 | 39 | c.335 others(56): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 18/23 | chr20 | TogoVar | |||||||
NKAIN3_chr8_62243854_62989904 | 62832566 | T | TATAATGA others(32): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020a0001c0001t0069others(1): Show | a0001c0001t0014g0013 a0001c0001t0020g0142 a0001c0001t0069g0075 others(1): Show |
4 | 144 | 0.0278 | 39 | c.471 others(58): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1039005 | T | TGAGGAGG others(32): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01099.hp1 others(49): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0227 a0001c0001t0003g0002 a0001c0001t0003g0006 others(41): Show |
52 | 315 | 0.1651 | 39 | c.*63 others(48): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 63 | chr5 | TogoVar | |||||||
NKX2-6_chr8_23696740_23711756 | 23708481 | C | CCTTCTTC others(32): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 NA18981.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004 | 2 | 375 | 0.0053 | 39 | c.-18 others(50): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1726 | chr8 | TogoVar | |||||||
NKX2-6_chr8_23696740_23711756 | 23708574 | T | TCTTCTTC others(32): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG01884.hp1 HG03704.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009 | a0001c0002t0004g0004 a0001c0002t0009g0019 |
12 | 266 | 0.0451 | 39 | c.-19 others(50): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1819 | chr8 | TogoVar | |||||||
NLRC3_chr16_3534033_3582403 | 3569394 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0011 | a0011c0021 | a0011c0021t0026 | a0011c0021t0026g0344 | 1 | 345 | 0.0029 | 39 | c.-16 others(58): Show |
NLRC3 | ENSG00000167984.18 | transcript | ENST00000359128.10 | protein_coding | 1/19 | chr16 | TogoVar | |||||||
NLRC4_chr2_32219453_32269886 | 32261316 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 195 | 0.0051 | 39 | c.-11 others(58): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
NLRP2_chr19_54961374_55006138 | 54976812 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0248 | 1 | 80 | 0.0125 | 39 | c.326 others(54): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851526 | T | TGTCCGTG others(32): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03209.hp1 HG04204.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0007a0002c0002t0008a0002c0002t0012others(1): Show | a0002c0002t0007g0402 a0002c0002t0008g0219 a0002c0002t0012g0218 others(1): Show |
4 | 395 | 0.0101 | 39 | c.-65 others(54): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP6_chr11_273407_290388 | 285027 | A | AGTCACTG others(32): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0076 | 1 | 444 | 0.0023 | 39 | c.253 others(56): Show |
NLRP6 | ENSG00000174885.13 | transcript | ENST00000534750.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993563 | C | CCCCTCCC others(32): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0017 | a0017c0023 | a0017c0023t0019 | a0017c0023t0019g0025 | 1 | 330 | 0.0030 | 39 | c.*56 others(50): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4935 | chr19 | TogoVar | |||||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(32): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0024 |
2 | 185 | 0.0108 | 39 | c.*48 others(50): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37847173 | G | GGAAGAAG others(32): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0267 | 1 | 207 | 0.0048 | 39 | c.-17 others(50): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 1423 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848282 | G | GAGGAAGA others(32): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 NA18986.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0026 a0001c0001t0004g0184 others(1): Show |
4 | 381 | 0.0105 | 39 | c.-68 others(48): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 314 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848345 | G | GAAGAAGA others(32): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0208 | 1 | 284 | 0.0035 | 39 | c.-62 others(48): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 251 | chr7 | TogoVar | |||||||
NMNAT2_chr1_183243237_183423380 | 183252249 | G | GGGGCACC others(32): Show |
3_prime_UTR_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0187 | 1 | 256 | 0.0039 | 39 | c.*39 others(48): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 11/11 | 391 | chr1 | TogoVar | ||||||
NMNAT2_chr1_183243237_183423380 | 183364684 | T | TTTCTTTC others(32): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 256 | 0.0039 | 39 | c.85+ others(56): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
NMT2_chr10_15100770_15173693 | 15168747 | T | TCCCGCCC others(32): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0128 | 1 | 247 | 0.0040 | 39 | c.-13 others(48): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 55 | chr10 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149712 | C | CCACACCC others(32): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 292 | 0.0034 | 39 | c.901 others(54): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149888 | C | CCACACCC others(32): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 289 | 0.0035 | 39 | c.901 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149925 | G | GCTCACAC others(32): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 242 | 0.0041 | 39 | c.901 others(56): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150543 | C | CCACACCC others(32): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 292 | 0.0034 | 39 | c.902 others(54): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOL4_chr18_33846100_34229913 | 34024194 | A | AAAAAAAT others(32): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 35 | 0.0286 | 39 | c.773 others(56): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 61 | 0.0164 | 39 | c.180 others(56): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 61 | 0.0164 | 39 | c.180 others(56): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961226 | T | TGTTAGTA others(32): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 2 | 0.5000 | 39 | c.195 others(56): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162217267 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01934.hp2 HG02132.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0048 a0001c0001t0002g0028 a0001c0002t0001g0032 others(1): Show |
4 | 28 | 0.1429 | 39 | c.177 others(58): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162261539 | A | AGAGAGAA others(32): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02896.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0010 | a0001c0002t0004g0121 a0001c0003t0010g0078 |
2 | 97 | 0.0206 | 39 | c.178 others(58): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2NLC_chr1_149385621_149476833 | 149390802 | A | AGGCGGCG others(32): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG01074.hp1 HG01433.hp2 others(3): Show |
a0014 | a0014c0013 | a0014c0013t0001a0014c0013t0003a0014c0013t0008 | a0014c0013t0001g0185 a0014c0013t0001g0195 a0014c0013t0001g0227 others(3): Show |
6 | 44 | 0.1364 | 39 | c.44_ others(44): Show |
p.Gly others(50): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/5 | 212/8729 | 45/882 | 15/293 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NOTCH2NLC_chr1_149385621_149476833 | 149390817 | C | CGGCGGCG others(32): Show |
disruptive_inframe_insertion | MODERATE | HG00639.hp1 | a0014 | a0014c0036 | a0014c0036t0001 | a0014c0036t0001g0129 | 1 | 256 | 0.0039 | 39 | c.44_ others(44): Show |
p.Gly others(50): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/5 | 212/8729 | 45/882 | 15/293 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NOTCH2NLC_chr1_149385621_149476833 | 149390820 | C | CGGCGGCG others(32): Show |
disruptive_inframe_insertion | MODERATE | NA18747.hp1 NA18906.hp1 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0018 | a0004c0004t0001g0077 a0004c0004t0018g0160 |
2 | 258 | 0.0078 | 39 | c.44_ others(44): Show |
p.Gly others(50): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/5 | 212/8729 | 45/882 | 15/293 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NOTCH2NLC_chr1_149385621_149476833 | 149390829 | C | CGGCGGCG others(32): Show |
disruptive_inframe_insertion | MODERATE | NA19091.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0229 | 1 | 244 | 0.0041 | 39 | c.44_ others(44): Show |
p.Gly others(50): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/5 | 212/8729 | 45/882 | 15/293 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NOTCH2NLC_chr1_149385621_149476833 | 149419855 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0017 | a0017c0015 | a0017c0015t0015 | a0017c0015t0015g0235 | 1 | 146 | 0.0068 | 39 | c.136 others(58): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2NLR_chr1_120718945_120799851 | 120752554 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 40 | 0.0250 | 39 | c.74- others(56): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2_chr1_119906553_120074662 | 120041071 | A | AAATATAT others(32): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 51 | 0.0196 | 39 | c.74- others(56): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOX5_chr15_69009695_69067762 | 69045565 | T | TTTCTTTC others(32): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0121 | 1 | 393 | 0.0025 | 39 | c.164 others(58): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NOXA1_chr9_137418393_137439406 | 137438449 | C | CCTCCCGT others(32): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 402 | 0.0025 | 39 | c.*40 others(50): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 4044 | chr9 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 33802228 | A | AGATAAAA others(32): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0091 | 1 | 90 | 0.0111 | 39 | c.*11 others(50): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 12/12 | 1120 | chr14 | TogoVar | ||||||
NPBWR2_chr20_64098802_64112565 | 64104679 | A | ACAGGGGA others(32): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp1 HG03688.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0079a0001c0002t0035a0001c0002t0057 | a0001c0001t0079g0088 a0001c0002t0035g0040 a0001c0002t0057g0059 |
3 | 354 | 0.0085 | 39 | c.*11 others(50): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 1150 | chr20 | TogoVar | ||||||
NPC1_chr18_23526442_23591506 | 23577367 | T | TGATTGGT others(32): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | 54 | 0.0926 | 39 | c.58- others(54): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | TogoVar | |||||||
NPEPL1_chr20_58687800_58720844 | 58711110 | C | CCTCCTCC others(32): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0096 | 1 | 326 | 0.0031 | 39 | c.901 others(56): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NPEPL1_chr20_58687800_58720844 | 58711110 | C | CTCCTCCT others(32): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03516.hp2 HG03688.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0005 | a0001c0003t0003g0113 a0001c0003t0003g0117 a0001c0003t0005g0073 |
3 | 328 | 0.0091 | 39 | c.901 others(56): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 7/11 | chr20 | TogoVar | |||||||
NPEPL1_chr20_58687800_58720844 | 58711110 | C | CTCCTCCT others(32): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0091 | 1 | 326 | 0.0031 | 39 | c.901 others(56): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 7/11 | chr20 | TogoVar |