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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAA60_chr16_3438680_3491953 | 3462086 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp2 others(63): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0061 a0001c0001t0002g0294 a0001c0001t0008g0316 others(58): Show |
66 | 376 | 0.1755 | 7 | c.-7+ others(24): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NAA80_chr3_50291402_50304405 | 50304274 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02897.hp2 HG03654.hp1 others(7): Show |
a0001a0010 | a0001c0001a0010c0005 | a0001c0001t0001a0010c0005t0001 | a0001c0001t0001g0001 a0010c0005t0001g0015 |
10 | 378 | 0.0265 | 7 | c.-52 others(18): Show |
NAA80 | ENSG00000243477.6 | transcript | ENST00000443094.3 | protein_coding | 4870 | chr3 | TogoVar | |||||||
NAAA_chr4_75908660_75946013 | 75936223 | A | ACTGGTGC | frameshift_variant | HIGH | NA18987.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0099 | 1 | 400 | 0.0025 | 7 | c.377 others(14): Show |
p.Ser others(5): Show |
NAAA | ENSG00000138744.16 | transcript | ENST00000286733.9 | protein_coding | 3/11 | 447/1859 | 383/1080 | 128/359 | chr4 | TogoVar | |||
NAALADL2_chr3_174854334_175815548 | 175072693 | T | TGGGGGGA | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp1 HG02258.hp2 others(3): Show |
a0004a0006a0008others(1): Show | a0004c0002a0006c0009a0006c0010others(2): Show | a0004c0002t0021a0004c0002t0026a0006c0009t0009others(3): Show | a0004c0002t0021g0003 a0004c0002t0026g0011 a0006c0009t0009g0061 others(3): Show |
6 | 64 | 0.0938 | 7 | c.44- others(24): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175138887 | A | ATATATAT | intron_variant | MODIFIER | HG03453.hp1 NA21309.hp1 |
a0002a0016 | a0002c0007a0016c0022 | a0002c0007t0001a0016c0022t0001 | a0002c0007t0001g0064 a0016c0022t0001g0034 |
2 | 64 | 0.0313 | 7 | c.545 others(26): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175423028 | A | AAATATAT | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02559.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0007a0004c0002others(1): Show | a0001c0001t0012a0001c0001t0030a0002c0007t0024others(2): Show | a0001c0001t0012g0031 a0001c0001t0030g0030 a0002c0007t0024g0049 others(2): Show |
5 | 64 | 0.0781 | 7 | c.109 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175551922 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG02258.hp2 HG02300.hp1 others(8): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0013a0003c0004others(6): Show | a0001c0001t0031a0001c0001t0037a0001c0013t0007others(8): Show | a0001c0001t0031g0026 a0001c0001t0037g0038 a0001c0013t0007g0021 others(8): Show |
11 | 64 | 0.1719 | 7 | c.165 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175607525 | G | GAATAAAT | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 HG03209.hp1 others(3): Show |
a0001a0004a0005 | a0001c0001a0001c0013a0004c0002others(1): Show | a0001c0001t0002a0001c0001t0030a0001c0013t0007others(3): Show | a0001c0001t0002g0032 a0001c0001t0030g0030 a0001c0013t0007g0021 others(3): Show |
6 | 64 | 0.0938 | 7 | c.180 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175639318 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG02055.hp1 others(1): Show |
a0001a0011a0013 | a0001c0001a0011c0020a0013c0023 | a0001c0001t0002a0001c0001t0012a0011c0020t0028others(1): Show | a0001c0001t0002g0012 a0001c0001t0012g0031 a0011c0020t0028g0001 others(1): Show |
4 | 64 | 0.0625 | 7 | c.189 others(28): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175762192 | A | ATTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG00741.hp2 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0002c0007others(10): Show | a0001c0001t0003a0001c0001t0022a0002c0003t0002others(21): Show | a0001c0001t0003g0015 a0001c0001t0022g0002 a0002c0003t0002g0017 others(21): Show |
24 | 64 | 0.3750 | 7 | c.218 others(26): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NABP1_chr2_191673136_191691943 | 191674154 | C | CTAAAAAA | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0005g0009 others(3): Show |
8 | 394 | 0.0203 | 7 | c.-44 others(18): Show |
NABP1 | ENSG00000173559.15 | transcript | ENST00000425611.9 | protein_coding | 3981 | chr2 | TogoVar | |||||||
NADK2_chr5_36187589_36246925 | 36217662 | G | GTTAATCA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0007 others(229): Show |
302 | 384 | 0.7865 | 7 | c.781 others(20): Show |
NADK2 | ENSG00000152620.13 | transcript | ENST00000381937.9 | protein_coding | 6/11 | chr5 | TogoVar | |||||||
NAE1_chr16_66797878_66835976 | 66814608 | A | AAAAATAC | intron_variant | MODIFIER | HG00673.hp1 HG01175.hp1 HG02165.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0147 others(4): Show |
14 | 376 | 0.0372 | 7 | c.841 others(22): Show |
NAE1 | ENSG00000159593.15 | transcript | ENST00000290810.8 | protein_coding | 11/19 | chr16 | TogoVar | |||||||
NAGLU_chr17_42531241_42549449 | 42547657 | T | TATGCGAG | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0005 |
3 | 422 | 0.0071 | 7 | c.*34 others(18): Show |
NAGLU | ENSG00000108784.10 | transcript | ENST00000225927.7 | protein_coding | 3209 | chr17 | TogoVar | |||||||
NAIP_chr5_70963166_71030339 | 70963878 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01071.hp1 others(5): Show |
a0001a0011 | a0001c0001a0001c0004a0011c0018 | a0001c0001t0001a0001c0004t0002a0001c0004t0011others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0004t0002g0125 others(5): Show |
8 | 141 | 0.0567 | 7 | c.*62 others(18): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 4287 | chr5 | TogoVar | |||||||
NAIP_chr5_70963166_71030339 | 70982622 | A | ATTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0014others(1): Show | a0001c0001t0001a0002c0002t0007a0002c0002t0009others(5): Show | a0001c0001t0001g0075 a0001c0001t0001g0104 a0002c0002t0007g0113 others(7): Show |
10 | 141 | 0.0709 | 7 | c.327 others(26): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
NAIP_chr5_70963166_71030339 | 70996792 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(57): Show |
60 | 141 | 0.4255 | 7 | c.102 others(26): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101060275 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp2 HG01175.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0040 others(19): Show |
22 | 176 | 0.1250 | 7 | c.475 others(24): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 41/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101070063 | G | GTTCTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01175.hp2 others(29): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0175 a0001c0001t0002g0054 a0001c0001t0002g0171 others(29): Show |
32 | 176 | 0.1818 | 7 | c.419 others(26): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 37/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101070063 | G | GTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01099.hp1 others(12): Show |
a0001 | a0001c0002a0001c0007a0001c0008others(3): Show | a0001c0002t0002a0001c0002t0019a0001c0007t0002others(4): Show | a0001c0002t0002g0002 a0001c0002t0002g0053 a0001c0002t0002g0103 others(12): Show |
15 | 176 | 0.0852 | 7 | c.419 others(26): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 37/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101228169 | A | AAATTCTT | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp1 others(34): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0070 others(34): Show |
37 | 176 | 0.2102 | 7 | c.162 others(26): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 13/43 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107298351 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG02922.hp1 HG02976.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0010a0001c0001t0025a0001c0001t0065others(4): Show | a0001c0001t0010g0035 a0001c0001t0025g0005 a0001c0001t0065g0025 others(4): Show |
7 | 128 | 0.0547 | 7 | c.916 others(26): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107438827 | C | CAAAAAAA | intron_variant | MODIFIER | HG02155.hp2 HG02622.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0055a0001c0001t0075a0001c0002t0012others(2): Show | a0001c0001t0055g0067 a0001c0001t0075g0096 a0001c0002t0012g0085 others(2): Show |
5 | 128 | 0.0391 | 7 | c.916 others(28): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107586635 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG02056.hp2 HG02132.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0011others(8): Show | a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0011g0043 others(8): Show |
11 | 128 | 0.0859 | 7 | c.915 others(28): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF2_chrX_69499326_69537508 | 69504985 | A | ACCGACCT | 5_prime_UTR_variant | MODIFIER | NA19089.hp1 | a0019 | a0019c0008 | a0019c0008t0034 | a0019c0008t0034g0150 | 1 | 322 | 0.0031 | 7 | c.-29 others(16): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 294 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NAMPT_chr7_106243298_106289983 | 106267840 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01258.hp2 HG01358.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0002t0002 | a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0065 others(9): Show |
16 | 336 | 0.0476 | 7 | c.743 others(22): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
NAMPT_chr7_106243298_106289983 | 106284496 | G | GCCCAAGC | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 others(3): Show |
6 | 336 | 0.0179 | 7 | c.57+ others(20): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
NANOS3_chr19_13872134_13885757 | 13883872 | T | TGGTGGTG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(152): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0030 others(22): Show |
155 | 380 | 0.4079 | 7 | c.*33 others(18): Show |
NANOS3 | ENSG00000187556.8 | transcript | ENST00000339133.6 | protein_coding | 3116 | chr19 | TogoVar | |||||||
NANS_chr9_98051732_98088077 | 98065483 | A | ATTTTTTT | intron_variant | MODIFIER | HG01256.hp2 HG01515.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0143 others(3): Show |
6 | 318 | 0.0189 | 7 | c.348 others(24): Show |
NANS | ENSG00000095380.11 | transcript | ENST00000210444.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NAP1L4_chr11_2939437_2997329 | 2981418 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01257.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 others(24): Show |
35 | 335 | 0.1045 | 7 | c.-17 others(24): Show |
NAP1L4 | ENSG00000205531.14 | transcript | ENST00000380542.9 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
NARS1_chr18_57595656_57626836 | 57607841 | A | AAATACAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 a0001c0001t0004g0026 a0001c0001t0004g0046 others(21): Show |
30 | 420 | 0.0714 | 7 | c.580 others(22): Show |
NARS1 | ENSG00000134440.12 | transcript | ENST00000256854.10 | protein_coding | 7/13 | chr18 | TogoVar | |||||||
NARS2_chr11_78430968_78579864 | 78468310 | G | GAAAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0001 | a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0005t0001g0068 others(3): Show |
6 | 294 | 0.0204 | 7 | c.102 others(24): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 10/13 | chr11 | TogoVar | |||||||
NARS2_chr11_78430968_78579864 | 78562031 | T | TCAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004a0001c0003t0006others(1): Show | a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0004g0274 others(3): Show |
6 | 294 | 0.0204 | 7 | c.514 others(24): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 4/13 | chr11 | TogoVar | |||||||
NASP_chr1_45579041_45623893 | 45586284 | G | GTGTGTGT | intron_variant | MODIFIER | NA19043.hp1 NA19066.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0296 |
3 | 300 | 0.0100 | 7 | c.59+ others(22): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
NAT16_chr7_101165496_101185293 | 101178889 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG01192.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0168 a0001c0001t0003g0007 others(19): Show |
40 | 422 | 0.0948 | 7 | c.-5+ others(22): Show |
NAT16 | ENSG00000167011.9 | transcript | ENST00000300303.7 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
NAT8L_chr4_2054327_2074089 | 2060625 | T | TCCTCCCC | intron_variant | MODIFIER | HG00408.hp1 HG02055.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0071a0001c0002t0001 | a0001c0001t0011g0008 a0001c0001t0071g0008 a0001c0002t0001g0034 |
6 | 378 | 0.0159 | 7 | c.377 others(22): Show |
NAT8L | ENSG00000185818.8 | transcript | ENST00000423729.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201562171 | A | ATTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02922.hp1 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0009a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0121 a0001c0001t0002g0049 a0001c0001t0002g0068 others(10): Show |
13 | 210 | 0.0619 | 7 | c.-14 others(28): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201642534 | T | TTTCTTTC | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG02970.hp1 |
a0001a0014 | a0001c0001a0014c0030 | a0001c0001t0001a0001c0001t0071a0014c0030t0015 | a0001c0001t0001g0140 a0001c0001t0071g0209 a0014c0030t0015g0208 |
3 | 210 | 0.0143 | 7 | c.827 others(24): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201768333 | G | GAAAAAAA | intron_variant | MODIFIER | HG01071.hp2 HG01433.hp1 HG01993.hp2 others(27): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0006a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0124 a0001c0001t0002g0005 a0001c0001t0004g0159 others(27): Show |
30 | 210 | 0.1429 | 7 | c.208 others(28): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19785647 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG01256.hp1 others(3): Show |
a0001a0002a0007 | a0001c0029a0002c0002a0002c0013others(2): Show | a0001c0029t0006a0002c0002t0001a0002c0002t0019others(3): Show | a0001c0029t0006g0104 a0002c0002t0001g0059 a0002c0002t0019g0099 others(3): Show |
6 | 166 | 0.0361 | 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 | 19852769 | C | CAGGCCTA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(68): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0007a0001c0028others(61): Show | a0001c0003t0023a0001c0007t0007a0001c0028t0030others(65): Show | a0001c0003t0023g0132 a0001c0007t0007g0088 a0001c0028t0030g0073 others(68): Show |
71 | 166 | 0.4277 | 7 | c.438 others(24): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 20005254 | T | TATATATA | intron_variant | MODIFIER | HG02970.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
a0001a0020 | a0001c0007a0001c0050a0001c0067others(1): Show | a0001c0007t0007a0001c0050t0035a0001c0067t0038others(1): Show | a0001c0007t0007g0088 a0001c0050t0035g0151 a0001c0067t0038g0004 others(1): Show |
4 | 166 | 0.0241 | 7 | c.276 others(28): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 11/37 | chr11 | TogoVar | |||||||
NAV3_chr12_77825894_78218010 | 78162869 | A | ATATATAT | intron_variant | MODIFIER | HG01192.hp1 HG02293.hp2 HG03831.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0071a0001c0008t0004 | a0001c0001t0001g0126 a0001c0001t0071g0131 a0001c0008t0004g0082 |
3 | 186 | 0.0161 | 7 | c.486 others(26): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 23/39 | chr12 | TogoVar | |||||||
NBAS_chr2_15161916_15566334 | 15381273 | C | CTTTCAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(121): Show |
a0001a0002a0003others(28): Show | a0001c0003a0001c0023a0002c0002others(35): Show | a0001c0003t0001a0001c0023t0001a0002c0002t0001others(35): Show | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(121): Show |
124 | 224 | 0.5536 | 7 | c.336 others(26): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 29/51 | chr2 | TogoVar | |||||||
NBAS_chr2_15161916_15566334 | 15559062 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(38): Show |
a0002a0007a0011others(5): Show | a0002c0002a0002c0009a0007c0007others(6): Show | a0002c0002t0001a0002c0009t0001a0007c0007t0001others(6): Show | a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 others(38): Show |
41 | 224 | 0.1830 | 7 | c.118 others(22): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56730513 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0074 others(24): Show |
27 | 160 | 0.1688 | 7 | c.*29 others(22): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56764702 | C | CAAAAAAA | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 160 | 0.0063 | 7 | c.*16 others(28): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203119424 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00642.hp2 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0019others(2): Show | a0001c0001t0002a0001c0001t0016a0001c0007t0002others(4): Show | a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0117 others(16): Show |
19 | 292 | 0.0651 | 7 | c.259 others(26): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203139557 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG02083.hp2 HG02135.hp1 others(6): Show |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0001t0029a0001c0001t0040others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(6): Show |
9 | 292 | 0.0308 | 7 | c.484 others(24): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203141366 | A | ATTATTAT | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0235 a0001c0001t0002g0108 a0001c0001t0005g0283 others(10): Show |
13 | 292 | 0.0445 | 7 | c.484 others(26): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |