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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOS1_chr12_117203142_117366626 | 117322413 | C | CTTCCCTC others(21): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0157 | a0001c0003t0157g0050 | 1 | 294 | 0.0034 | 28 | c.725 others(45): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 2/28 | chr12 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117324715 | C | CTAAATAA others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0090a0001c0001t0091 | a0001c0001t0090g0099 a0001c0001t0091g0082 |
2 | 294 | 0.0068 | 28 | c.725 others(45): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 2/28 | chr12 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117335729 | T | TGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01175.hp1 HG01256.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0059others(7): Show | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0011g0164 others(8): Show |
11 | 294 | 0.0374 | 28 | c.-42 others(47): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | |||||||
NOSTRIN_chr2_168797637_168870514 | 168834507 | G | GCGCGCGC others(21): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0263 | 1 | 326 | 0.0031 | 28 | c.504 others(43): Show |
NOSTRIN | ENSG00000163072.16 | transcript | ENST00000317647.12 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NOTCH2NLC_chr1_149385621_149476833 | 149460854 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0061 | 1 | 260 | 0.0039 | 28 | c.470 others(45): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2NLR_chr1_120718945_120799851 | 120752554 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0126 a0001c0001t0003g0105 |
2 | 164 | 0.0122 | 28 | c.74- others(45): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2NLR_chr1_120718945_120799851 | 120752554 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 164 | 0.0061 | 28 | c.74- others(45): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2_chr1_119906553_120074662 | 120041069 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 2 | 168 | 0.0119 | 28 | c.74- others(45): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOTCH2_chr1_119906553_120074662 | 120041071 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0137 | 1 | 168 | 0.0060 | 28 | c.74- others(45): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOTCH3_chr19_15154038_15205995 | 15155036 | T | TTTTATTT others(21): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0078 | 1 | 340 | 0.0029 | 28 | c.*56 others(39): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 4001 | chr19 | TogoVar | |||||||
NOTCH4_chr6_32189843_32229067 | 32214484 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01074.hp1 others(31): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0024a0001c0033others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0024t0001others(4): Show | a0001c0001t0001g0044 a0001c0001t0002g0004 a0001c0001t0002g0057 others(11): Show |
34 | 437 | 0.0778 | 28 | c.202 others(45): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853268 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0215 | 1 | 302 | 0.0033 | 28 | c.805 others(45): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853284 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 302 | 0.0033 | 28 | c.805 others(45): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853288 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01243.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0249 |
3 | 302 | 0.0099 | 28 | c.805 others(45): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853292 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 302 | 0.0033 | 28 | c.805 others(45): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853326 | C | CTCTCTTT others(21): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 302 | 0.0033 | 28 | c.805 others(45): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853332 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0285 a0001c0001t0002g0278 |
2 | 302 | 0.0066 | 28 | c.805 others(45): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX3_chr6_155390368_155460839 | 155426984 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 362 | 0.0028 | 28 | c.114 others(47): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
NOX3_chr6_155390368_155460839 | 155445957 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 362 | 0.0028 | 28 | c.341 others(45): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 4/13 | chr6 | TogoVar | |||||||
NOX3_chr6_155390368_155460839 | 155445981 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 362 | 0.0028 | 28 | c.341 others(45): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 4/13 | chr6 | TogoVar | |||||||
NOX3_chr6_155390368_155460839 | 155445981 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 362 | 0.0028 | 28 | c.341 others(45): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 4/13 | chr6 | TogoVar | |||||||
NOX3_chr6_155390368_155460839 | 155445981 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0240 |
2 | 362 | 0.0055 | 28 | c.341 others(45): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 4/13 | chr6 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89438801 | A | ATTATATA others(21): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0018 | 1 | 288 | 0.0035 | 28 | c.475 others(45): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89455744 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0287 | 1 | 288 | 0.0035 | 28 | c.154 others(45): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
NOX5_chr15_69009695_69067762 | 69045536 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01070.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0237 a0001c0001t0001g0251 others(23): Show |
28 | 396 | 0.0707 | 28 | c.164 others(47): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NOXRED1_chr14_77389021_77428523 | 77408892 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0162 a0001c0002t0003g0042 |
2 | 298 | 0.0067 | 28 | c.350 others(45): Show |
NOXRED1 | ENSG00000165555.10 | transcript | ENST00000380835.7 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
NPAP1_chr15_24670775_24688393 | 24681379 | T | TGATAGAT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 NA18906.hp1 |
a0007a0009 | a0007c0011a0009c0009 | a0007c0011t0032a0009c0009t0032 | a0007c0011t0032g0000 a0009c0009t0032g0000 |
2 | 444 | 0.0045 | 28 | c.*20 others(39): Show |
NPAP1 | ENSG00000185823.5 | transcript | ENST00000329468.5 | protein_coding | 1/1 | 2065 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NPAS1_chr19_47014837_47050775 | 47038454 | T | TCGCAGTA others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(117): Show |
122 | 418 | 0.2919 | 28 | c.689 others(43): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NPAS1_chr19_47014837_47050775 | 47038472 | G | GTGCCACT others(21): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 a0001c0001t0001g0306 |
2 | 418 | 0.0048 | 28 | c.689 others(43): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 32938485 | T | TAGAGAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 HG02976.hp2 HG03942.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0051a0002c0002t0049 | a0001c0001t0001g0052 a0001c0001t0051g0010 a0002c0002t0049g0053 |
3 | 92 | 0.0326 | 28 | c.-83 others(37): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 393 | chr14 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 32941309 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 92 | 0.0109 | 28 | c.50+ others(43): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 32941309 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0014 a0001c0001t0022g0015 |
2 | 92 | 0.0217 | 28 | c.50+ others(43): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 32941309 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 92 | 0.0109 | 28 | c.50+ others(43): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 32941309 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0040 a0001c0001t0006g0041 |
2 | 92 | 0.0217 | 28 | c.50+ others(43): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33301306 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01496.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0001t0056a0001c0003t0043 | a0001c0001t0014g0071 a0001c0001t0056g0047 a0001c0003t0043g0091 |
3 | 92 | 0.0326 | 28 | c.386 others(47): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33307593 | A | ATGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03540.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0001t0053a0001c0003t0001 | a0001c0001t0014g0080 a0001c0001t0053g0048 a0001c0003t0001g0039 |
3 | 92 | 0.0326 | 28 | c.386 others(47): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33308527 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0039 | 1 | 92 | 0.0109 | 28 | c.386 others(47): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33308527 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0091 | 1 | 92 | 0.0109 | 28 | c.386 others(47): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33544788 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0048a0002c0002t0023 | a0001c0001t0048g0045 a0002c0002t0023g0028 |
2 | 92 | 0.0217 | 28 | c.469 others(47): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33563537 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0089 | 1 | 92 | 0.0109 | 28 | c.558 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33563537 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 1 | 92 | 0.0109 | 28 | c.558 others(45): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPBWR2_chr20_64098802_64112565 | 64105597 | G | GTGGATGT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00735.hp1 others(23): Show |
a0001a0002 | a0001c0005a0002c0003a0002c0006 | a0001c0005t0004a0002c0003t0004a0002c0003t0025others(3): Show | a0001c0005t0004g0043 a0002c0003t0004g0006 a0002c0003t0004g0019 others(4): Show |
26 | 355 | 0.0732 | 28 | c.*23 others(37): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 232 | chr20 | TogoVar | ||||||
NPC1L1_chr7_44507535_44546330 | 44526546 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0252 | 1 | 320 | 0.0031 | 28 | c.263 others(47): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
NPC1_chr18_23526442_23591506 | 23550479 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0350 | 1 | 378 | 0.0027 | 28 | c.165 others(47): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | TogoVar | |||||||
NPEPL1_chr20_58687800_58720844 | 58703292 | A | AAACTTCA others(21): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0105 | 1 | 398 | 0.0025 | 28 | c.822 others(45): Show |
NPEPL1 | ENSG00000215440.12 | transcript | ENST00000356091.11 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47538202 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0114 | 1 | 342 | 0.0029 | 28 | c.255 others(45): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NPHP3_chr3_132675609_132727409 | 132722404 | C | CGGAACGG others(21): Show |
5_prime_UTR_variant | MODIFIER | NA18952.hp1 NA18987.hp1 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0244 a0001c0002t0015g0245 |
2 | 342 | 0.0059 | 28 | c.-50 others(35): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 1/27 | 50 | chr3 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5949343 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG02615.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0005 a0001c0002t0001g0175 a0001c0004t0001g0044 |
3 | 208 | 0.0144 | 28 | c.811 others(45): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | TogoVar | |||||||
NPIPB4_chr16_21829582_21862756 | 21850260 | A | AAAATAAA others(21): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0092 | a0092c0094 | a0092c0094t0001 | a0092c0094t0001g0066 | 1 | 204 | 0.0049 | 28 | c.121 others(45): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB8_chr16_28633065_28663744 | 28646202 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0276 | 1 | 351 | 0.0029 | 28 | c.121 others(45): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |