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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NINJ2_chr12_559296_668445 | 629896 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0372 | 1 | 404 | 0.0025 | 21 | c.33+ others(38): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 629896 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0379 | 1 | 404 | 0.0025 | 21 | c.33+ others(38): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NIPA1_chr15_22781644_22834789 | 22788498 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0342 | 1 | 400 | 0.0025 | 21 | c.178 others(38): Show |
NIPA1 | ENSG00000170113.16 | transcript | ENST00000337435.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NIPAL2_chr8_98184826_98299235 | 98244572 | C | CGCTGTGG others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(57): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0037 a0001c0001t0002g0139 a0001c0001t0002g0160 others(56): Show |
60 | 332 | 0.1807 | 21 | c.376 others(38): Show |
NIPAL2 | ENSG00000104361.10 | transcript | ENST00000430223.7 | protein_coding | 3/10 | chr8 | TogoVar | |||||||
NIPSNAP1_chr22_29549808_29586113 | 29585760 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 376 | 0.0027 | 21 | c.-46 others(32): Show |
NIPSNAP1 | ENSG00000184117.12 | transcript | ENST00000216121.12 | protein_coding | 4648 | chr22 | TogoVar | |||||||
NKAIN1_chr1_31174745_31244887 | 31218071 | T | TCTTTCTT others(14): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 338 | 0.0030 | 21 | c.54+ others(38): Show |
NKAIN1 | ENSG00000084628.10 | transcript | ENST00000373736.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124342835 | A | ATTATTAT others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03139.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0004 | a0001c0001t0001g0004 a0001c0001t0005g0009 a0001c0002t0004g0063 |
3 | 66 | 0.0455 | 21 | c.193 others(40): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124398252 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 66 | 0.0152 | 21 | c.273 others(40): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62429496 | A | ACTTCAGT others(14): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0076 | 1 | 144 | 0.0069 | 21 | c.55- others(40): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62454301 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0022a0001c0001t0055a0001c0001t0080others(9): Show | a0001c0001t0022g0084 a0001c0001t0055g0069 a0001c0001t0080g0135 others(11): Show |
14 | 144 | 0.0972 | 21 | c.55- others(40): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NKAIN3_chr8_62243854_62989904 | 62729023 | C | CAAACCAA others(14): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0067a0002c0004t0009 | a0001c0001t0067g0071 a0002c0004t0009g0067 |
2 | 144 | 0.0139 | 21 | c.274 others(40): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
NKAIN4_chr20_63235784_63259463 | 63237719 | T | TTTCACCT others(14): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0010 | 1 | 354 | 0.0028 | 21 | c.*37 others(32): Show |
NKAIN4 | ENSG00000101198.15 | transcript | ENST00000370316.8 | protein_coding | 3064 | chr20 | TogoVar | |||||||
NKAP_chrX_119915672_119948751 | 119932660 | A | ATCATCTT others(14): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0036 | 1 | 320 | 0.0031 | 21 | c.738 others(36): Show |
NKAP | ENSG00000101882.10 | transcript | ENST00000371410.5 | protein_coding | 5/8 | chrX | TogoVar | |||||||
NKTR_chr3_42595686_42653735 | 42647301 | T | TGTGTGTG others(14): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG03710.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0054a0002c0003t0055 | a0001c0001t0054g0001 a0002c0003t0055g0070 |
2 | 352 | 0.0057 | 21 | c.*13 others(32): Show |
NKTR | ENSG00000114857.19 | transcript | ENST00000232978.13 | protein_coding | 17/17 | 1328 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NKX1-1_chr4_1397932_1411442 | 1401314 | C | CGGAGGGA others(14): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG03471.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0001 a0001c0016t0001g0034 |
3 | 382 | 0.0079 | 21 | c.*16 others(32): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 1617 | chr4 | TogoVar | |||||||
NKX2-6_chr8_23696740_23711756 | 23708498 | C | CTCTTCTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG02273.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 |
3 | 434 | 0.0069 | 21 | c.-19 others(32): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1743 | chr8 | TogoVar | |||||||
NKX2-6_chr8_23696740_23711756 | 23708501 | C | CTCCTCTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 21 | c.-19 others(32): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1746 | chr8 | TogoVar | |||||||
NKX2-6_chr8_23696740_23711756 | 23708501 | C | CTCTTCTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 21 | c.-19 others(32): Show |
NKX2-6 | ENSG00000180053.8 | transcript | ENST00000325017.4 | protein_coding | 1746 | chr8 | TogoVar | |||||||
NLGN1_chr3_173392744_174299372 | 173600592 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0022 a0001c0001t0017g0023 |
2 | 44 | 0.0455 | 21 | c.-32 others(40): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NLGN1_chr3_173392744_174299372 | 174255435 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0030 | 1 | 44 | 0.0227 | 21 | c.707 others(40): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NLGN4X_chrX_5885042_6233867 | 6010513 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01261.hp1 others(23): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0004 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(23): Show |
26 | 128 | 0.2031 | 21 | c.625 others(40): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 3/5 | chrX | TogoVar | |||||||
NLGN4X_chrX_5885042_6233867 | 6030392 | A | ATTGTGTG others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(30): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(30): Show |
33 | 128 | 0.2578 | 21 | c.473 others(36): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 2/5 | chrX | TogoVar | |||||||
NLK_chr17_28037677_28201381 | 28115202 | C | CTTCCTAT others(14): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 108 | 0.0093 | 21 | c.459 others(38): Show |
NLK | ENSG00000087095.13 | transcript | ENST00000407008.8 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
NLRC3_chr16_3534033_3582403 | 3569395 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18522.hp1 |
a0006 | a0006c0010 | a0006c0010t0027 | a0006c0010t0027g0339 a0006c0010t0027g0340 |
2 | 396 | 0.0051 | 21 | c.-16 others(40): Show |
NLRC3 | ENSG00000167984.18 | transcript | ENST00000359128.10 | protein_coding | 1/19 | chr16 | TogoVar | |||||||
NLRC4_chr2_32219453_32269886 | 32259262 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00642.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0003others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0183 others(22): Show |
25 | 394 | 0.0635 | 21 | c.-11 others(40): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
NLRC4_chr2_32219453_32269886 | 32261316 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0325 a0001c0003t0001g0346 a0001c0004t0001g0168 others(1): Show |
4 | 394 | 0.0102 | 21 | c.-11 others(40): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
NLRC5_chr16_56984557_57088520 | 57006888 | C | CATTATTA others(14): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02965.hp2 |
a0001a0011 | a0001c0006a0011c0053 | a0001c0006t0002a0011c0053t0005 | a0001c0006t0002g0172 a0011c0053t0005g0186 |
2 | 424 | 0.0047 | 21 | c.-12 others(42): Show |
NLRC5 | ENSG00000140853.17 | transcript | ENST00000688547.1 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NLRP11_chr19_55780399_55836999 | 55788741 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 | 1 | 444 | 0.0023 | 21 | c.285 others(36): Show |
NLRP11 | ENSG00000179873.14 | transcript | ENST00000589093.6 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55913548 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0356 a0001c0002t0001g0252 |
2 | 440 | 0.0046 | 21 | c.524 others(36): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 4/10 | chr19 | TogoVar | |||||||
NLRP1_chr17_5509118_5589509 | 5533551 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0012 | a0012c0024 | a0012c0024t0007 | a0012c0024t0007g0390 a0012c0024t0007g0391 |
2 | 404 | 0.0050 | 21 | c.305 others(38): Show |
NLRP1 | ENSG00000091592.17 | transcript | ENST00000572272.6 | protein_coding | 9/16 | chr17 | TogoVar | |||||||
NLRP2_chr19_54961374_55006138 | 54975106 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0181 | 1 | 429 | 0.0023 | 21 | c.325 others(36): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP2_chr19_54961374_55006138 | 54976810 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01975.hp1 HG02273.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0005c0011others(1): Show | a0001c0002t0001a0002c0003t0003a0005c0011t0001others(1): Show | a0001c0002t0001g0028 a0001c0002t0001g0173 a0002c0003t0003g0001 others(2): Show |
5 | 429 | 0.0117 | 21 | c.326 others(36): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP2_chr19_54961374_55006138 | 54984329 | G | GTGTGTTT others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 NA18974.hp1 NA18995.hp2 |
a0004a0006 | a0004c0007a0006c0035 | a0004c0007t0003a0006c0035t0001 | a0004c0007t0003g0014 a0004c0007t0003g0340 a0006c0035t0001g0183 |
3 | 429 | 0.0070 | 21 | c.203 others(38): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP2_chr19_54961374_55006138 | 54984329 | G | GTGTTTTT others(14): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19004.hp1 NA19058.hp2 |
a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0341 a0004c0007t0003g0345 a0004c0007t0003g0347 |
3 | 429 | 0.0070 | 21 | c.203 others(38): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP2_chr19_54961374_55006138 | 54984485 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01257.hp2 others(7): Show |
a0001a0002a0007others(2): Show | a0001c0002a0001c0004a0001c0013others(6): Show | a0001c0002t0002a0001c0004t0001a0001c0013t0002others(6): Show | a0001c0002t0002g0025 a0001c0004t0001g0210 a0001c0013t0002g0161 others(7): Show |
10 | 429 | 0.0233 | 21 | c.203 others(38): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55837607 | A | AACACACA others(14): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0012a0002c0002t0007a0002c0009t0007 | a0001c0001t0012g0018 a0002c0002t0007g0408 a0002c0009t0007g0019 others(1): Show |
4 | 424 | 0.0094 | 21 | c.-66 others(36): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56009339 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18940.hp1 NA18960.hp1 others(3): Show |
a0001a0005a0006others(2): Show | a0001c0009a0005c0034a0006c0005others(2): Show | a0001c0009t0001a0005c0034t0001a0006c0005t0002others(2): Show | a0001c0009t0001g0283 a0001c0009t0001g0332 a0005c0034t0001g0338 others(3): Show |
6 | 396 | 0.0152 | 21 | c.508 others(36): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56010742 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01255.hp1 others(25): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0014others(18): Show | a0001c0001t0001a0001c0003t0001a0001c0014t0001others(18): Show | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(25): Show |
28 | 396 | 0.0707 | 21 | c.508 others(38): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56013596 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG01257.hp2 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0022a0001c0086a0002c0031others(12): Show | a0001c0022t0001a0001c0086t0001a0002c0031t0002others(12): Show | a0001c0022t0001g0267 a0001c0022t0001g0273 a0001c0022t0001g0289 others(15): Show |
18 | 396 | 0.0455 | 21 | c.509 others(38): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56030714 | C | CTTCTTTT others(14): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0164 | 1 | 396 | 0.0025 | 21 | c.227 others(40): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56030714 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03486.hp2 HG03540.hp2 |
a0003a0009a0014 | a0003c0008a0009c0013a0014c0097 | a0003c0008t0001a0009c0013t0001a0014c0097t0001 | a0003c0008t0001g0312 a0009c0013t0001g0351 a0014c0097t0001g0107 |
3 | 396 | 0.0076 | 21 | c.227 others(40): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56036058 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0118 | a0003c0118t0001 | a0003c0118t0001g0357 | 1 | 396 | 0.0025 | 21 | c.261 others(40): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55945573 | C | CTTTTCTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02723.hp2 |
a0002a0005 | a0002c0003a0005c0005 | a0002c0003t0067a0005c0005t0028 | a0002c0003t0067g0092 a0005c0005t0028g0165 |
2 | 350 | 0.0057 | 21 | c.-23 others(32): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 2258 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55990430 | C | CCTATAAT others(14): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0011 | a0011c0012 | a0011c0012t0066 | a0011c0012t0066g0028 | 1 | 350 | 0.0029 | 21 | c.*25 others(32): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 1802 | chr19 | TogoVar | |||||||
NMBR_chr6_142069484_142152122 | 142079126 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 330 | 0.0030 | 21 | c.423 others(36): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
NME1_chr17_51148559_51167168 | 51150839 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01106.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0027 others(6): Show |
25 | 384 | 0.0651 | 21 | c.-28 others(32): Show |
NME1 | ENSG00000239672.8 | transcript | ENST00000393196.8 | protein_coding | 2719 | chr17 | TogoVar | |||||||
NME1_chr17_51148559_51167168 | 51150839 | C | CGAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 384 | 0.0026 | 21 | c.-28 others(32): Show |
NME1 | ENSG00000239672.8 | transcript | ENST00000393196.8 | protein_coding | 2719 | chr17 | TogoVar | |||||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 413 | 0.0024 | 21 | c.*48 others(32): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | |||||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 HG01993.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 |
3 | 413 | 0.0073 | 21 | c.*48 others(32): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | |||||||
NME3_chr16_1765320_1776543 | 1771127 | T | TTCACGCA others(14): Show |
disruptive_inframe_insertion | MODERATE | NA19043.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0014 | 1 | 426 | 0.0024 | 21 | c.201 others(28): Show |
p.Glu others(32): Show |
NME3 | ENSG00000103024.8 | transcript | ENST00000219302.8 | protein_coding | 3/5 | 230/848 | 221/510 | 74/169 | chr16 | TogoVar |