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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAA25_chr12_112021689_112113783 | 112080066 | G | GTCGGGAG others(23): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0332 | 1 | 342 | 0.0029 | 30 | c.477 others(45): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 5/23 | chr12 | TogoVar | |||||||
NAA25_chr12_112021689_112113783 | 112086073 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0139 | 1 | 342 | 0.0029 | 30 | c.402 others(47): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 4/23 | chr12 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 174953294 | G | GCCTCCCC others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 |
a0001a0003 | a0001c0013a0003c0004 | a0001c0013t0007a0003c0004t0033 | a0001c0013t0007g0021 a0003c0004t0033g0022 |
2 | 64 | 0.0313 | 30 | c.43+ others(47): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174987812 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0008 | a0004c0008t0027 | a0004c0008t0027g0051 | 1 | 64 | 0.0156 | 30 | c.44- others(49): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175013099 | T | TATGTAAT others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0017 | 1 | 64 | 0.0156 | 30 | c.44- others(47): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175119692 | T | TATATAGA others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0013 | a0001c0013t0007 | a0001c0013t0007g0021 | 1 | 64 | 0.0156 | 30 | c.545 others(49): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175206244 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0035a0006c0010t0019 | a0001c0001t0035g0027 a0006c0010t0019g0016 |
2 | 64 | 0.0313 | 30 | c.546 others(49): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175463701 | G | GGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 |
a0002a0014 | a0002c0007a0014c0024 | a0002c0007t0024a0014c0024t0003 | a0002c0007t0024g0049 a0014c0024t0003g0023 |
2 | 64 | 0.0313 | 30 | c.132 others(47): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175698081 | G | GTATGTAT others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0004 | a0004c0002 | a0004c0002t0008a0004c0002t0034 | a0004c0002t0008g0006 a0004c0002t0034g0055 |
2 | 64 | 0.0313 | 30 | c.189 others(51): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136051915 | G | GAGGAGGA others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0077 | 1 | 348 | 0.0029 | 30 | c.-59 others(47): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NADK2_chr5_36187589_36246925 | 36213618 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0269 | 1 | 384 | 0.0026 | 30 | c.782 others(47): Show |
NADK2 | ENSG00000152620.13 | transcript | ENST00000381937.9 | protein_coding | 6/11 | chr5 | TogoVar | |||||||
NADK2_chr5_36187589_36246925 | 36213618 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01261.hp2 HG02080.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0018others(1): Show | a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0206 others(6): Show |
9 | 384 | 0.0234 | 30 | c.782 others(47): Show |
NADK2 | ENSG00000152620.13 | transcript | ENST00000381937.9 | protein_coding | 6/11 | chr5 | TogoVar | |||||||
NADK_chr1_1746232_1783470 | 1769820 | T | TAAATAAT others(23): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 414 | 0.0024 | 30 | c.-40 others(47): Show |
NADK | ENSG00000008130.15 | transcript | ENST00000341426.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101177409 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03688.hp1 |
a0001 | a0001c0006a0001c0027 | a0001c0006t0005a0001c0027t0009 | a0001c0006t0005g0026 a0001c0027t0009g0078 |
2 | 176 | 0.0114 | 30 | c.176 others(49): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 14/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101345737 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02602.hp1 HG02818.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0020a0001c0002t0002others(2): Show | a0001c0001t0003g0164 a0001c0001t0020g0176 a0001c0002t0002g0105 others(2): Show |
5 | 176 | 0.0284 | 30 | c.645 others(45): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 6/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101346087 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0067 | 1 | 176 | 0.0057 | 30 | c.645 others(45): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 6/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101346087 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 176 | 0.0057 | 30 | c.645 others(45): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 6/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101346087 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0108 | 1 | 176 | 0.0057 | 30 | c.645 others(45): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 6/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101415228 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03540.hp1 HG04204.hp1 NA18980.hp2 |
a0001 | a0001c0002a0001c0006a0001c0025 | a0001c0002t0002a0001c0006t0013a0001c0025t0004 | a0001c0002t0002g0028 a0001c0006t0013g0029 a0001c0025t0004g0027 |
3 | 176 | 0.0171 | 30 | c.-40 others(47): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 1/43 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107636887 | A | ATATATTA others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0021 | 1 | 128 | 0.0078 | 30 | c.915 others(51): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107638201 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0086 | a0001c0001t0025g0005 a0001c0001t0086g0117 |
2 | 128 | 0.0156 | 30 | c.915 others(51): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107638201 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0032a0001c0006t0021 | a0001c0001t0032g0016 a0001c0006t0021g0009 |
2 | 128 | 0.0156 | 30 | c.915 others(51): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107644642 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0098 | 1 | 128 | 0.0078 | 30 | c.915 others(51): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NAMPT_chr7_106243298_106289983 | 106267840 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 336 | 0.0030 | 30 | c.743 others(45): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
NANOG_chr12_7784402_7804146 | 7803696 | T | TGCCACAC others(23): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0005 | 1 | 434 | 0.0023 | 30 | c.*86 others(41): Show |
NANOG | ENSG00000111704.11 | transcript | ENST00000229307.9 | protein_coding | 4551 | chr12 | TogoVar | |||||||
NAP1L1_chr12_76031585_76089685 | 76058191 | C | CTTCATAT others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0156 | 1 | 356 | 0.0028 | 30 | c.429 others(47): Show |
NAP1L1 | ENSG00000187109.15 | transcript | ENST00000618691.5 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
NAPEPLD_chr7_103094776_103154099 | 103099575 | C | CGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00621.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0022 others(26): Show |
35 | 381 | 0.0919 | 30 | c.*38 others(41): Show |
NAPEPLD | ENSG00000161048.12 | transcript | ENST00000465647.6 | protein_coding | 200 | chr7 | TogoVar | |||||||
NARF_chr17_82453741_82495537 | 82482409 | C | CGTTGACA others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 |
a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0233 a0001c0003t0019g0234 |
2 | 356 | 0.0056 | 30 | c.769 others(47): Show |
NARF | ENSG00000141562.19 | transcript | ENST00000309794.16 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NARF_chr17_82453741_82495537 | 82482411 | T | TTGACAAA others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03471.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0104 |
3 | 356 | 0.0084 | 30 | c.769 others(47): Show |
NARF | ENSG00000141562.19 | transcript | ENST00000309794.16 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NASP_chr1_45579041_45623893 | 45587687 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01517.hp1 HG01952.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0080 others(17): Show |
20 | 300 | 0.0667 | 30 | c.59+ others(45): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAT8_chr2_73635723_73647422 | 73643813 | G | GGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 30 | c.-15 others(41): Show |
NAT8 | ENSG00000144035.4 | transcript | ENST00000272425.4 | protein_coding | 1392 | chr2 | TogoVar | |||||||
NAV1_chr1_201534127_201831969 | 201642511 | C | CTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0012 | a0012c0029 | a0012c0029t0004 | a0012c0029t0004g0077 | 1 | 210 | 0.0048 | 30 | c.827 others(47): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201734493 | G | GAGAAGAA others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01361.hp2 HG02109.hp2 others(3): Show |
a0001a0002a0012 | a0001c0001a0001c0028a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0030a0001c0001t0087others(3): Show | a0001c0001t0002g0109 a0001c0001t0030g0098 a0001c0001t0087g0041 others(3): Show |
6 | 210 | 0.0286 | 30 | c.208 others(51): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201734499 | G | GAGAAGAA others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19082.hp2 |
a0002a0017 | a0002c0002a0017c0027 | a0002c0002t0003a0017c0027t0017 | a0002c0002t0003g0044 a0017c0027t0017g0204 |
2 | 210 | 0.0095 | 30 | c.208 others(51): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201756809 | C | CTTCTTTC others(23): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0165 a0001c0001t0002g0097 |
2 | 210 | 0.0095 | 30 | c.208 others(51): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201779598 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0115 | 1 | 210 | 0.0048 | 30 | c.208 others(47): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19897886 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03195.hp1 |
a0003a0004 | a0003c0010a0004c0027 | a0003c0010t0037a0004c0027t0008 | a0003c0010t0037g0116 a0004c0027t0008g0158 |
2 | 166 | 0.0121 | 30 | c.931 others(47): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19945153 | C | CTCCCTTC others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0086 | a0001c0086t0001 | a0001c0086t0001g0034 | 1 | 166 | 0.0060 | 30 | c.214 others(49): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV3_chr12_77825894_78218010 | 77961305 | T | TATATTAC others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(39): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0125 a0001c0001t0002g0139 a0001c0001t0003g0087 others(39): Show |
42 | 186 | 0.2258 | 30 | c.415 others(47): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NAV3_chr12_77825894_78218010 | 78162891 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01123.hp2 HG01243.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0125 others(23): Show |
26 | 186 | 0.1398 | 30 | c.486 others(49): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 23/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15478040 | C | CATGCTGC others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(125): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0003a0001c0023others(35): Show | a0001c0001t0001a0001c0003t0001a0001c0023t0001others(35): Show | a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0036 others(125): Show |
128 | 224 | 0.5714 | 30 | c.114 others(47): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 13/51 | chr2 | TogoVar | |||||||
NBAS_chr2_15161916_15566334 | 15478040 | C | CATGCTGC others(23): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0027 | a0027c0031 | a0027c0031t0001 | a0027c0031t0001g0029 | 1 | 224 | 0.0045 | 30 | c.114 others(47): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 13/51 | chr2 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56776901 | T | TCCTCCTC others(23): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 160 | 0.0063 | 30 | c.*16 others(51): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35010741 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 122 | 0.0082 | 30 | c.295 others(49): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35150793 | T | TTAGAGTA others(23): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03579.hp2 |
a0001a0009 | a0001c0005a0009c0018 | a0001c0005t0004a0009c0018t0001 | a0001c0005t0004g0010 a0009c0018t0001g0001 |
2 | 122 | 0.0164 | 30 | c.244 others(49): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 18/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35308456 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0081 | 1 | 122 | 0.0082 | 30 | c.583 others(49): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 35/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35445794 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0009 | 1 | 122 | 0.0082 | 30 | c.630 others(49): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 39/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146084554 | T | TTTCTTCC others(23): Show |
conservative_inframe_insertion | MODERATE | HG02965.hp2 HG03130.hp1 |
a0126a0132 | a0126c0115a0132c0135 | a0126c0115t0010a0132c0135t0002 | a0126c0115t0010g0120 a0132c0135t0002g0113 |
2 | 283 | 0.0071 | 30 | c.837 others(39): Show |
p.Arg others(15): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 67/90 | 8439/13030 | 8404/11388 | 2802/3795 | chr1 | TogoVar | |||
NBPF15_chr1_144416390_144466669 | 144463598 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 NA19088.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0222 a0001c0002t0001g0314 |
2 | 394 | 0.0051 | 30 | c.-31 others(41): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 1930 | chr1 | TogoVar | |||||||
NBPF19_chr1_149470045_149561361 | 149528945 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG01071.hp1 others(2): Show |
a0003a0006a0011others(2): Show | a0003c0002a0006c0005a0011c0007others(2): Show | a0003c0002t0003a0006c0005t0001a0011c0007t0003others(2): Show | a0003c0002t0003g0189 a0006c0005t0001g0081 a0011c0007t0003g0186 others(2): Show |
5 | 276 | 0.0181 | 30 | c.734 others(47): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 61/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |