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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAIP_chr5_70963166_71030339 | 70989820 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01071.hp1 others(5): Show |
a0001a0011 | a0001c0004a0011c0018 | a0001c0004t0002a0001c0004t0011a0011c0018t0002 | a0001c0004t0002g0125 a0001c0004t0002g0131 a0001c0004t0002g0132 others(5): Show |
8 | 141 | 0.0567 | -7 | c.102 others(26): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101378790 | GAATAAGT | G | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG01981.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0003g0015 others(9): Show |
12 | 176 | 0.0682 | -7 | c.292 others(22): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 3/43 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107269913 | ATTTTTTT | A | intron_variant | MODIFIER | HG01943.hp2 HG02451.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0054a0001c0001t0086a0001c0002t0037others(2): Show | a0001c0001t0054g0045 a0001c0001t0086g0117 a0001c0002t0037g0073 others(2): Show |
5 | 128 | 0.0391 | -7 | c.916 others(26): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107299465 | TAATAATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0002g0047 others(46): Show |
49 | 128 | 0.3828 | -7 | c.916 others(26): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107492035 | TTTTTTTG | T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0053a0001c0001t0060a0001c0001t0062others(4): Show | a0001c0001t0053g0066 a0001c0001t0060g0064 a0001c0001t0062g0027 others(4): Show |
7 | 128 | 0.0547 | -7 | c.916 others(28): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107505065 | AGAGAAAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0001t0059a0001c0001t0063others(4): Show | a0001c0001t0031g0017 a0001c0001t0059g0036 a0001c0001t0063g0034 others(4): Show |
7 | 128 | 0.0547 | -7 | c.916 others(28): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107555439 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp2 HG02056.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0002g0047 a0001c0001t0005g0046 a0001c0001t0008g0109 others(10): Show |
13 | 128 | 0.1016 | -7 | c.915 others(28): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107800645 | GATATATA | G | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0063a0001c0001t0066others(3): Show | a0001c0001t0010g0035 a0001c0001t0063g0034 a0001c0001t0066g0028 others(3): Show |
6 | 128 | 0.0469 | -7 | c.915 others(26): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF2_chrX_69499326_69537508 | 69504782 | CGGCGCGG | C | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0011 | a0001c0001t0005g0014 a0001c0001t0005g0146 a0001c0001t0007g0043 others(1): Show |
10 | 322 | 0.0311 | -7 | c.-49 others(16): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 490 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NAMPT_chr7_106243298_106289983 | 106251972 | TTATCTAA | T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02280.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0020 | a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 others(18): Show |
21 | 336 | 0.0625 | -7 | c.136 others(24): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 10/10 | chr7 | TogoVar | |||||||
NAMPT_chr7_106243298_106289983 | 106267840 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG02165.hp2 HG02622.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0118 a0001c0001t0001g0223 others(12): Show |
21 | 336 | 0.0625 | -7 | c.743 others(22): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
NANOS1_chr10_119024714_119038730 | 119032266 | TAAATACC | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0013others(3): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(11): Show | a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 others(11): Show |
138 | 404 | 0.3416 | -7 | c.*15 others(18): Show |
NANOS1 | ENSG00000188613.7 | transcript | ENST00000425699.3 | protein_coding | 1/1 | 1587 | chr10 | TogoVar | ||||||
NAP1L3_chrX_93665930_93678578 | 93669930 | CAAAACAA | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0006g0000 a0002c0002t0001g0000 others(1): Show |
5 | 338 | 0.0148 | -7 | c.*18 others(18): Show |
NAP1L3 | ENSG00000186310.10 | transcript | ENST00000373079.4 | protein_coding | 999 | chrX | TogoVar | |||||||
NAP1L3_chrX_93665930_93678578 | 93669943 | AAAAAAAC | A | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 338 | 0.0030 | -7 | c.*18 others(18): Show |
NAP1L3 | ENSG00000186310.10 | transcript | ENST00000373079.4 | protein_coding | 986 | chrX | TogoVar | |||||||
NAP1L4_chr11_2939437_2997329 | 2981418 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01258.hp2 HG02602.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0001g0180 others(6): Show |
9 | 335 | 0.0269 | -7 | c.-17 others(24): Show |
NAP1L4 | ENSG00000205531.14 | transcript | ENST00000380542.9 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
NAP1L4_chr11_2939437_2997329 | 2996702 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(113): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(92): Show |
116 | 335 | 0.3463 | -7 | c.-44 others(18): Show |
NAP1L4 | ENSG00000205531.14 | transcript | ENST00000380542.9 | protein_coding | 4374 | chr11 | TogoVar | |||||||
NARS2_chr11_78430968_78579864 | 78434510 | TAAATGTC | T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0259 a0001c0003t0006g0260 a0001c0003t0006g0261 others(4): Show |
7 | 294 | 0.0238 | -7 | c.*21 others(18): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 1457 | chr11 | TogoVar | |||||||
NARS2_chr11_78430968_78579864 | 78538994 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(58): Show |
61 | 294 | 0.2075 | -7 | c.595 others(26): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 5/13 | chr11 | TogoVar | |||||||
NARS2_chr11_78430968_78579864 | 78562031 | TCAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02148.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0004a0001c0004t0007others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0082 a0001c0001t0001g0124 others(23): Show |
26 | 294 | 0.0884 | -7 | c.514 others(24): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 4/13 | chr11 | TogoVar | |||||||
NASP_chr1_45579041_45623893 | 45586277 | TGTGTGTG | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG01517.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(13): Show |
16 | 300 | 0.0533 | -7 | c.59+ others(22): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAT16_chr7_101165496_101185293 | 101168012 | TTTTTTTG | T | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02615.hp1 others(3): Show |
a0002a0010 | a0002c0002a0010c0007 | a0002c0002t0002a0010c0007t0002 | a0002c0002t0002g0011 a0002c0002t0002g0184 a0002c0002t0002g0202 others(2): Show |
6 | 422 | 0.0142 | -7 | c.*40 others(18): Show |
NAT16 | ENSG00000167011.9 | transcript | ENST00000300303.7 | protein_coding | 2483 | chr7 | TogoVar | |||||||
NAT16_chr7_101165496_101185293 | 101183066 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0005 a0001c0001t0001g0161 a0001c0001t0002g0176 others(1): Show |
6 | 422 | 0.0142 | -7 | c.-30 others(18): Show |
NAT16 | ENSG00000167011.9 | transcript | ENST00000300303.7 | protein_coding | 2774 | chr7 | TogoVar | |||||||
NAT8L_chr4_2054327_2074089 | 2056400 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(65): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(84): Show |
267 | 378 | 0.7064 | -7 | c.-31 others(18): Show |
NAT8L | ENSG00000185818.8 | transcript | ENST00000423729.3 | protein_coding | 2926 | chr4 | TogoVar | |||||||
NAV1_chr1_201534127_201831969 | 201663353 | GCCCATGA | G | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp2 HG02922.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0085others(3): Show | a0001c0001t0001g0128 a0001c0001t0015g0071 a0001c0001t0085g0194 others(3): Show |
6 | 210 | 0.0286 | -7 | c.161 others(28): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19730804 | TTTCAGCC | T | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG02109.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0052a0001c0053others(10): Show | a0001c0003t0026a0001c0052t0007a0001c0053t0010others(10): Show | a0001c0003t0026g0157 a0001c0052t0007g0134 a0001c0053t0010g0163 others(10): Show |
13 | 166 | 0.0783 | -7 | c.267 others(26): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19793227 | AAAGAAAG | A | intron_variant | MODIFIER | HG01952.hp2 HG02027.hp2 HG02647.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0018a0001c0036a0001c0049others(7): Show | a0001c0018t0048a0001c0036t0046a0001c0049t0011others(7): Show | a0001c0018t0048g0141 a0001c0036t0046g0123 a0001c0049t0011g0008 others(7): Show |
10 | 166 | 0.0602 | -7 | c.268 others(26): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 20107057 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0032a0001c0033a0001c0046others(14): Show | a0001c0032t0001a0001c0033t0004a0001c0046t0014others(14): Show | a0001c0032t0001g0078 a0001c0033t0004g0058 a0001c0046t0014g0101 others(14): Show |
17 | 166 | 0.1024 | -7 | c.684 others(24): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 20122947 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG02071.hp2 HG02083.hp2 HG02630.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0053a0002c0011others(2): Show | a0001c0007t0010a0001c0053t0010a0002c0011t0006others(3): Show | a0001c0007t0010g0081 a0001c0053t0010g0163 a0002c0011t0006g0096 others(3): Show |
6 | 166 | 0.0361 | -7 | c.*46 others(18): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1347 | chr11 | TogoVar | |||||||
NAV3_chr12_77825894_78218010 | 78009445 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0019a0001c0001t0072others(11): Show | a0001c0001t0004g0038 a0001c0001t0019g0166 a0001c0001t0072g0122 others(11): Show |
14 | 186 | 0.0753 | -7 | c.190 others(26): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NAV3_chr12_77825894_78218010 | 78025595 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01074.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0019a0001c0002t0002a0001c0002t0006others(12): Show | a0001c0001t0019g0166 a0001c0002t0002g0185 a0001c0002t0006g0083 others(12): Show |
15 | 186 | 0.0807 | -7 | c.202 others(26): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 9/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15214288 | TATAATAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01070.hp2 others(13): Show |
a0001a0003a0017others(2): Show | a0001c0001a0003c0005a0003c0010others(5): Show | a0001c0001t0001a0003c0005t0001a0003c0010t0001others(5): Show | a0001c0001t0001g0006 a0003c0005t0001g0052 a0003c0005t0001g0053 others(13): Show |
16 | 224 | 0.0714 | -7 | c.643 others(26): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 48/51 | chr2 | TogoVar | |||||||
NBAS_chr2_15161916_15566334 | 15335928 | CAAAATAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0023a0002c0002others(3): Show | a0001c0001t0001a0001c0023t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 others(10): Show |
13 | 224 | 0.0580 | -7 | c.418 others(26): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 35/51 | chr2 | TogoVar | |||||||
NBAS_chr2_15161916_15566334 | 15410783 | GCATCTAA | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01109.hp1 others(11): Show |
a0005a0008a0010others(2): Show | a0005c0006a0005c0054a0008c0014others(4): Show | a0005c0006t0001a0005c0054t0001a0008c0014t0001others(4): Show | a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 others(11): Show |
14 | 224 | 0.0625 | -7 | c.293 others(26): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 25/51 | chr2 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56784028 | CCACCCTT | C | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0154 | 1 | 160 | 0.0063 | -7 | c.*16 others(28): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | chrX | TogoVar | |||||||
NBEAL1_chr2_203009875_203230194 | 203074317 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(22): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0003c0012others(2): Show | a0001c0001t0002a0003c0003t0004a0003c0003t0010others(4): Show | a0001c0001t0002g0146 a0003c0003t0004g0024 a0003c0003t0004g0026 others(22): Show |
25 | 292 | 0.0856 | -7 | c.599 others(24): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203141363 | ATTATTTT | A | intron_variant | MODIFIER | HG02083.hp1 HG02523.hp2 NA18939.hp1 others(5): Show |
a0001a0018 | a0001c0001a0018c0034 | a0001c0001t0002a0018c0034t0002 | a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0124 others(5): Show |
8 | 292 | 0.0274 | -7 | c.484 others(26): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEAL2_chr3_46974666_47014701 | 46977471 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(150): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0039a0001c0040others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0039t0001others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(74): Show |
153 | 360 | 0.4250 | -7 | c.-23 others(18): Show |
NBEAL2 | ENSG00000160796.18 | transcript | ENST00000450053.8 | protein_coding | 2194 | chr3 | TogoVar | |||||||
NBEA_chr13_34937270_35677736 | 34994198 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02280.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(5): Show | a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0116 others(10): Show |
13 | 122 | 0.1066 | -7 | c.295 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35010742 | ATATATAT | A | intron_variant | MODIFIER | HG03017.hp2 HG03195.hp1 HG03540.hp2 |
a0001a0002a0008 | a0001c0001a0002c0020a0008c0024 | a0001c0001t0005a0002c0020t0001a0008c0024t0004 | a0001c0001t0005g0002 a0002c0020t0001g0021 a0008c0024t0004g0011 |
3 | 122 | 0.0246 | -7 | c.295 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | chr13 | TogoVar | |||||||
NBEA_chr13_34937270_35677736 | 35391221 | GTTGAGAC | G | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0005g0002 |
3 | 122 | 0.0246 | -7 | c.617 others(28): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 38/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35601761 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02647.hp2 HG02735.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0105 a0001c0001t0002g0072 others(7): Show |
10 | 122 | 0.0820 | -7 | c.729 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 47/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35601779 | AAAAAAAG | A | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG02055.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0037 a0001c0001t0001g0073 a0001c0001t0001g0083 others(10): Show |
13 | 122 | 0.1066 | -7 | c.729 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 47/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35648180 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0001c0025others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0054 others(6): Show |
9 | 122 | 0.0738 | -7 | c.777 others(26): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 51/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148104630 | CCCTTCTT | C | frameshift_variant | HIGH | HG01169.hp2 | a0021 | a0021c0046 | a0021c0046t0042 | a0021c0046t0042g0324 | 1 | 388 | 0.0026 | -7 | c.248 others(16): Show |
p.Arg others(5): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 23/24 | 3567/5423 | 2481/2598 | 827/865 | chr1 | TogoVar | |||
NBPF11_chr1_148097151_148157281 | 148132723 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00642.hp2 others(24): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0020a0001c0036others(7): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(9): Show | a0001c0001t0001g0029 a0001c0001t0001g0070 a0001c0001t0001g0071 others(24): Show |
27 | 388 | 0.0696 | -7 | c.-36 others(24): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146965791 | CAAAAAAA | C | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 HG06807.hp2 others(1): Show |
a0023a0026a0028others(1): Show | a0023c0040a0026c0048a0028c0041others(1): Show | a0023c0040t0010a0026c0048t0020a0028c0041t0010others(1): Show | a0023c0040t0010g0074 a0026c0048t0020g0078 a0028c0041t0010g0073 others(1): Show |
4 | 122 | 0.0328 | -7 | c.779 others(22): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120454703 | ATTTTTTT | A | intron_variant | MODIFIER | HG00544.hp2 HG01934.hp1 HG02015.hp2 others(10): Show |
a0003a0019 | a0003c0003a0003c0012a0019c0024 | a0003c0003t0006a0003c0003t0012a0003c0003t0050others(3): Show | a0003c0003t0006g0127 a0003c0003t0006g0187 a0003c0003t0006g0195 others(10): Show |
13 | 292 | 0.0445 | -7 | c.158 others(24): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149082952 | CTTTTCTT | C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG00741.hp1 others(25): Show |
a0001a0004a0006others(9): Show | a0001c0001a0004c0004a0006c0005others(10): Show | a0001c0001t0003a0004c0004t0002a0004c0004t0037others(14): Show | a0001c0001t0003g0057 a0004c0004t0002g0014 a0004c0004t0002g0242 others(23): Show |
28 | 344 | 0.0814 | -7 | c.-19 others(24): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NCALD_chr8_101681542_101795969 | 101704921 | AAAAAAAT | A | intron_variant | MODIFIER | HG01167.hp1 HG02451.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0194 a0001c0001t0002g0274 a0001c0001t0009g0269 |
3 | 300 | 0.0100 | -7 | c.379 others(26): Show |
NCALD | ENSG00000104490.18 | transcript | ENST00000220931.11 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
NCALD_chr8_101681542_101795969 | 101732590 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01192.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0264 others(10): Show |
13 | 300 | 0.0433 | -7 | c.-19 others(26): Show |
NCALD | ENSG00000104490.18 | transcript | ENST00000220931.11 | protein_coding | 1/3 | chr8 | TogoVar |