| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 124664793 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 66 | 0.0152 | -19 | c.474 others(36): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| NKAIN2_chr6_123798865_124830640 | 124680046 | TAATTCTC others(12): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0005others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0039others(4): Show | 7 | 66 | 0.1061 | -19 | c.474 others(38): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
| NKAIN3_chr8_62243854_62989904 | 62667342 | ATTCTTTA others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0005others(2): Show | a0001c0001t0029a0002c0003t0002a0002c0003t0005others(23): Show | a0001c0001t0029g0053a0002c0003t0002g0101a0002c0003t0002g0102others(27): Show | 30 | 144 | 0.2083 | -19 | c.273 others(38): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NKAIN3_chr8_62243854_62989904 | 62763221 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01243.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016a0001c0001t0020others(11): Show | a0001c0001t0014g0013a0001c0001t0016g0026a0001c0001t0016g0027others(12): Show | 15 | 144 | 0.1042 | -19 | c.471 others(38): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NKAPD1_chr11_112069299_112090150 | 112088253 | GCAGTGGT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0001 | 1 | 382 | 0.0026 | -19 | c.*52 others(30): Show |
NKAPD1 | ENSG00000150776.18 | transcript | ENST00000393047.8 | protein_coding | 3104 | chr11 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1036498 | CCCCAACC others(12): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02615.hp2 |
a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0078a0004c0007t0006g0079 | 2 | 319 | 0.0063 | -19 | c.787 others(34): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NKTR_chr3_42595686_42653735 | 42604659 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA18612.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013 | a0001c0001t0003g0090a0001c0001t0005g0185a0001c0001t0013g0091 | 3 | 352 | 0.0085 | -19 | c.58+ others(34): Show |
NKTR | ENSG00000114857.19 | transcript | ENST00000232978.13 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NKTR_chr3_42595686_42653735 | 42607969 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18969.hp1 NA19076.hp1 NA19080.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0024 | a0001c0001t0002g0186a0001c0008t0024g0292a0001c0008t0024g0293others(1): Show | 4 | 352 | 0.0114 | -19 | c.58+ others(34): Show |
NKTR | ENSG00000114857.19 | transcript | ENST00000232978.13 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NKX2-5_chr5_173227109_173240206 | 173235350 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | -19 | c.-28 others(28): Show |
NKX2-5 | ENSG00000183072.10 | transcript | ENST00000329198.5 | protein_coding | 145 | chr5 | TogoVar | ||||||
| NKX3-1_chr8_23673697_23687938 | 23677565 | ATTTTTTT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | -19 | c.*36 others(30): Show |
NKX3-1 | ENSG00000167034.10 | transcript | ENST00000380871.5 | protein_coding | 1131 | chr8 | TogoVar | ||||||
| NKX6-3_chr8_41640177_41655817 | 41646932 | CCTCCCCC others(12): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03239.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 3 | 434 | 0.0069 | -19 | c.553 others(34): Show |
NKX6-3 | ENSG00000165066.13 | transcript | ENST00000518699.4 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
| NLE1_chr17_35123730_35147303 | 35125331 | CAGGAGGT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0020 | 2 | 400 | 0.0050 | -19 | c.*70 others(30): Show |
NLE1 | ENSG00000073536.18 | transcript | ENST00000442241.9 | protein_coding | 3398 | chr17 | TogoVar | ||||||
| NLGN1_chr3_173392744_174299372 | 173788833 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0039a0001c0001t0003g0026a0001c0001t0006g0008others(4): Show | 7 | 44 | 0.1591 | -19 | c.554 others(38): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NLGN1_chr3_173392744_174299372 | 174250989 | ACGTGCAC others(12): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0007 | a0001c0007t0027 | a0001c0007t0027g0020 | 1 | 44 | 0.0227 | -19 | c.707 others(38): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NLRC3_chr16_3534033_3582403 | 3556318 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02896.hp2 others(7): Show |
a0006a0007a0011others(1): Show | a0006c0010a0007c0012a0011c0014others(1): Show | a0006c0010t0022a0006c0010t0027a0006c0010t0033others(3): Show | a0006c0010t0022g0140a0006c0010t0022g0141a0006c0010t0027g0339others(7): Show | 10 | 396 | 0.0253 | -19 | c.218 others(36): Show |
NLRC3 | ENSG00000167984.18 | transcript | ENST00000359128.10 | protein_coding | 8/19 | chr16 | TogoVar | ||||||
| NLRC3_chr16_3534033_3582403 | 3556336 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 396 | 0.0025 | -19 | c.218 others(36): Show |
NLRC3 | ENSG00000167984.18 | transcript | ENST00000359128.10 | protein_coding | 8/19 | chr16 | TogoVar | ||||||
| NLRC5_chr16_56984557_57088520 | 57075005 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01169.hp2 others(9): Show |
a0001a0003a0004others(2): Show | a0001c0006a0001c0015a0001c0065others(4): Show | a0001c0006t0008a0001c0015t0001a0001c0065t0001others(5): Show | a0001c0006t0008g0277a0001c0015t0001g0355a0001c0015t0001g0364others(9): Show | 12 | 424 | 0.0283 | -19 | c.475 others(36): Show |
NLRC5 | ENSG00000140853.17 | transcript | ENST00000688547.1 | protein_coding | 39/48 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NLRP11_chr19_55780399_55836999 | 55831095 | GCCCCACC others(12): Show |
G | intron_variant | MODIFIER | HG02080.hp2 NA18943.hp1 NA18955.hp2 others(1): Show |
a0003a0012 | a0003c0023a0012c0045 | a0003c0023t0001a0012c0045t0004 | a0003c0023t0001g0277a0003c0023t0001g0278a0003c0023t0001g0279others(1): Show | 4 | 444 | 0.0090 | -19 | c.-63 others(34): Show |
NLRP11 | ENSG00000179873.14 | transcript | ENST00000589093.6 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
| NLRP2_chr19_54961374_55006138 | 54975106 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG02896.hp2 others(3): Show |
a0001a0002a0030 | a0001c0010a0001c0013a0002c0003others(1): Show | a0001c0010t0001a0001c0013t0001a0001c0013t0017others(2): Show | a0001c0010t0001g0184a0001c0013t0001g0187a0001c0013t0017g0185others(3): Show | 6 | 429 | 0.0140 | -19 | c.325 others(34): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP2_chr19_54961374_55006138 | 54990458 | AGTTGGAC others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02451.hp1 others(1): Show |
a0004a0015a0025 | a0004c0023a0015c0029a0025c0051 | a0004c0023t0006a0015c0029t0023a0025c0051t0006 | a0004c0023t0006g0322a0004c0023t0006g0349a0015c0029t0023g0283others(1): Show | 4 | 429 | 0.0093 | -19 | c.253 others(34): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 9/12 | chr19 | TogoVar | ||||||
| NLRP4_chr19_55831540_55886855 | 55850889 | CCGTGGCT others(12): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0282a0001c0005t0017g0283 | 2 | 424 | 0.0047 | -19 | c.-65 others(36): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP4_chr19_55831540_55886855 | 55850970 | CGTGGCTG others(12): Show |
C | intron_variant | MODIFIER | NA18950.hp1 NA19091.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0085a0002c0003t0001g0086 | 2 | 424 | 0.0047 | -19 | c.-65 others(36): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
| NLRP5_chr19_55994726_56066810 | 56043542 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0007 | a0007c0073 | a0007c0073t0001 | a0007c0073t0001g0218 | 1 | 396 | 0.0025 | -19 | c.295 others(38): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP8_chr19_55942832_55993629 | 55957671 | AATTATAT others(12): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01884.hp1 HG03139.hp1 others(2): Show |
a0000 | a0000c0004a0000c0021a0000c0044others(1): Show | a0000c0004t0002a0000c0021t0036a0000c0021t0054others(2): Show | a0000c0004t0002g0219a0000c0021t0036g0159a0000c0021t0054g0157others(2): Show | 5 | 350 | 0.0143 | -19 | c.204 others(38): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NMBR_chr6_142069484_142152122 | 142124327 | TTGCCAGA others(12): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0047 | 1 | 330 | 0.0030 | -19 | c.-66 others(40): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| NMB_chr15_84650132_84663199 | 84661841 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -19 | c.-37 others(30): Show |
NMB | ENSG00000197696.10 | transcript | ENST00000360476.8 | protein_coding | 3643 | chr15 | TogoVar | ||||||
| NMNAT2_chr1_183243237_183423380 | 183273834 | CCTCCCTC others(12): Show |
C | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 258 | 0.0039 | -19 | c.651 others(36): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
| NMT2_chr10_15100770_15173693 | 15112198 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 276 | 0.0036 | -19 | c.133 others(36): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 10/11 | chr10 | TogoVar | ||||||
| NMT2_chr10_15100770_15173693 | 15112214 | ATATTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 276 | 0.0036 | -19 | c.133 others(36): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 10/11 | chr10 | TogoVar | ||||||
| NMT2_chr10_15100770_15173693 | 15147095 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA18984.hp2 NA19058.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0048 | a0001c0001t0002g0027a0001c0001t0004g0273a0001c0004t0048g0016 | 3 | 276 | 0.0109 | -19 | c.111 others(36): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
| NMU_chr4_55590231_55641298 | 55593359 | TAAAAAAA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp2 HG03139.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329a0001c0001t0001g0330a0001c0001t0001g0331 | 3 | 412 | 0.0073 | -19 | c.*20 others(30): Show |
NMU | ENSG00000109255.11 | transcript | ENST00000264218.7 | protein_coding | 1871 | chr4 | TogoVar | ||||||
| NOL11_chr17_67712936_67749531 | 67723370 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076a0001c0002t0001g0160a0001c0002t0001g0165 | 3 | 394 | 0.0076 | -19 | c.520 others(34): Show |
NOL11 | ENSG00000130935.10 | transcript | ENST00000253247.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| NOL3_chr16_67165538_67180737 | 67178129 | GAGCCCCG others(12): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG01993.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0016others(4): Show | 28 | 298 | 0.0940 | -19 | c.*30 others(30): Show |
NOL3 | ENSG00000140939.15 | transcript | ENST00000564992.2 | protein_coding | 2393 | chr16 | TogoVar | ||||||
| NOL8_chr9_92292358_92330350 | 92293522 | ATTAAATC others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 408 | 0.0025 | -19 | c.*42 others(30): Show |
NOL8 | ENSG00000198000.12 | transcript | ENST00000442668.7 | protein_coding | 3835 | chr9 | TogoVar | ||||||
| NOL9_chr1_6516347_6559513 | 6555866 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 340 | 0.0029 | -19 | c.-13 others(30): Show |
NOL9 | ENSG00000162408.11 | transcript | ENST00000377705.6 | protein_coding | 1354 | chr1 | TogoVar | ||||||
| NOP14_chr4_2932936_2968406 | 2961087 | ATAATAAT others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA18966.hp2 NA18968.hp1 |
a0002a0006 | a0002c0002a0006c0005 | a0002c0002t0001a0006c0005t0001 | a0002c0002t0001g0222a0002c0002t0001g0252a0006c0005t0001g0253 | 3 | 422 | 0.0071 | -19 | c.195 others(36): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| NOP58_chr2_202260763_202308661 | 202291968 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0002a0001c0001t0003g0009a0001c0001t0003g0010others(15): Show | 22 | 308 | 0.0714 | -19 | c.780 others(34): Show |
NOP58 | ENSG00000055044.11 | transcript | ENST00000264279.10 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NOS1AP_chr1_162064691_162375475 | 162120079 | GTATATAC others(12): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(160): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0026others(160): Show | 163 | 182 | 0.8956 | -19 | c.106 others(38): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS1AP_chr1_162064691_162375475 | 162255490 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0014a0001c0003t0003others(2): Show | a0001c0001t0002g0146a0001c0001t0014g0083a0001c0003t0003g0084others(3): Show | 6 | 182 | 0.0330 | -19 | c.178 others(38): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NOS2_chr17_27751766_27805529 | 27798808 | ATCTCTAT others(12): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18987.hp1 | a0010 | a0010c0030 | a0010c0030t0011 | a0010c0030t0011g0220 | 1 | 402 | 0.0025 | -19 | c.-18 others(24): Show |
p.Met others(3): Show |
NOS2 | ENSG00000007171.19 | transcript | ENST00000313735.11 | protein_coding | 2/27 | 265/4206 | 1/3462 | 1/1153 | chr17 | TogoVar | ||
| NOVA1_chr14_26438090_26603033 | 26554136 | AAAAAAGA others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0240 | 1 | 244 | 0.0041 | -19 | c.280 others(38): Show |
NOVA1 | ENSG00000139910.20 | transcript | ENST00000539517.7 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
| NOX4_chr11_89319353_89496375 | 89438825 | ATATCTTA others(12): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0171a0001c0001t0017g0172 | 2 | 288 | 0.0069 | -19 | c.475 others(36): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | ||||||
| NPAS1_chr19_47014837_47050775 | 47033975 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02559.hp2 HG02738.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0404a0001c0002t0001g0089others(5): Show | 8 | 418 | 0.0191 | -19 | c.522 others(36): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NPAS2_chr2_100815139_101001829 | 100988979 | CCTGCTCC others(12): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02055.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0008t0005others(1): Show | a0001c0001t0003g0118a0001c0001t0003g0131a0001c0001t0003g0135others(8): Show | 11 | 288 | 0.0382 | -19 | c.182 others(36): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NPAS3_chr14_32933879_33809173 | 33328446 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0060a0001c0001t0009g0006 | 2 | 92 | 0.0217 | -19 | c.386 others(38): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NPBWR2_chr20_64098802_64112565 | 64103484 | CCCCTGGG others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0016 | 1 | 355 | 0.0028 | -19 | c.*23 others(30): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 317 | chr20 | TogoVar | ||||||
| NPC1L1_chr7_44507535_44546330 | 44515987 | GTCAGGCA others(12): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02486.hp1 HG02622.hp2 |
a0001a0006 | a0001c0013a0006c0017 | a0001c0013t0005a0006c0017t0003 | a0001c0013t0005g0131a0006c0017t0003g0039 | 3 | 320 | 0.0094 | -19 | c.363 others(34): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| NPEPL1_chr20_58687800_58720844 | 58691364 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0155 | 1 | 398 | 0.0025 | -19 | c.-15 others(30): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 1435 | chr20 | TogoVar | ||||||
| NPFFR2_chr4_72027000_72153305 | 72076002 | CACACAGA others(12): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 344 | 0.0029 | -19 | c.-8+ others(36): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
| NPHP4_chr1_5857811_5997425 | 5914257 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
a0002 | a0002c0006a0002c0031a0002c0032 | a0002c0006t0001a0002c0006t0002a0002c0031t0001others(1): Show | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | 208 | 0.0385 | -19 | c.144 others(38): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | TogoVar |