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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NMU_chr4_55590231_55641298 | 55639045 | A | ATTTATGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(271): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(234): Show |
274 | 410 | 0.6683 | 9 | c.-28 others(20): Show |
NMU | ENSG00000109255.11 | transcript | ENST00000264218.7 | protein_coding | 2748 | chr4 | TogoVar | |||||||
NOB1_chr16_69736871_69759926 | 69741052 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01168.hp2 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0032 others(3): Show |
18 | 50 | 0.3600 | 9 | c.*12 others(20): Show |
NOB1 | ENSG00000141101.13 | transcript | ENST00000268802.10 | protein_coding | 818 | chr16 | TogoVar | |||||||
NOC2L_chr1_939203_964256 | 949046 | A | AACAGCAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(372): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0002a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(142): Show |
375 | 419 | 0.8950 | 9 | c.144 others(26): Show |
NOC2L | ENSG00000188976.11 | transcript | ENST00000327044.7 | protein_coding | 12/18 | chr1 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132156124 | T | TACACTAC others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG03225.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0124 a0001c0001t0001g0224 |
3 | 167 | 0.0180 | 9 | c.*37 others(20): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 3657 | chr12 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132156826 | C | CCACTACA others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01069.hp1 others(86): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(72): Show |
89 | 249 | 0.3574 | 9 | c.*44 others(20): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 4359 | chr12 | TogoVar | |||||||
NOL10_chr2_10565754_10694975 | 10607750 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01109.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0008others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(16): Show |
19 | 158 | 0.1203 | 9 | c.102 others(26): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
NOL10_chr2_10565754_10694975 | 10607750 | T | TTTTTTAT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02572.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(6): Show |
9 | 148 | 0.0608 | 9 | c.102 others(26): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
NOL10_chr2_10565754_10694975 | 10680299 | A | AGGAGAAG others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 NA18984.hp2 |
a0001a0008 | a0001c0002a0008c0012 | a0001c0002t0002a0008c0012t0002 | a0001c0002t0002g0246 a0001c0002t0002g0247 a0008c0012t0002g0346 |
3 | 368 | 0.0082 | 9 | c.211 others(26): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 3/20 | chr2 | TogoVar | |||||||
NOL12_chr22_37681343_37698474 | 37695316 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00673.hp2 others(42): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0002g0002 others(8): Show |
45 | 111 | 0.4054 | 9 | c.*39 others(20): Show |
NOL12 | ENSG00000273899.5 | transcript | ENST00000359114.9 | protein_coding | 1843 | chr22 | TogoVar | |||||||
NOL12_chr22_37681343_37698474 | 37696376 | T | TTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0031 others(3): Show |
35 | 421 | 0.0831 | 9 | c.*50 others(20): Show |
NOL12 | ENSG00000273899.5 | transcript | ENST00000359114.9 | protein_coding | 2903 | chr22 | TogoVar | |||||||
NOL12_chr22_37681343_37698474 | 37696383 | T | TTGTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01069.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0021 | a0001c0001t0002g0002 a0001c0001t0013g0002 a0001c0001t0021g0009 |
10 | 422 | 0.0237 | 9 | c.*50 others(20): Show |
NOL12 | ENSG00000273899.5 | transcript | ENST00000359114.9 | protein_coding | 2910 | chr22 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32490144 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0025a0001c0004t0012others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0179 others(4): Show |
7 | 57 | 0.1228 | 9 | c.700 others(28): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32494252 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0017 | a0001c0002t0003g0161 a0001c0002t0003g0183 a0001c0002t0003g0186 others(1): Show |
4 | 115 | 0.0348 | 9 | c.699 others(28): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32499738 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0179 a0001c0001t0006g0122 a0001c0001t0006g0145 others(4): Show |
7 | 85 | 0.0824 | 9 | c.699 others(28): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34219070 | A | AGAACAAT others(2): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02145.hp2 HG02818.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 others(6): Show |
9 | 166 | 0.0542 | 9 | c.264 others(26): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 1/10 | chr18 | TogoVar | |||||||
NOL9_chr1_6516347_6559513 | 6540124 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0023a0002c0002t0002a0002c0002t0009others(6): Show | a0001c0001t0023g0123 a0002c0002t0002g0059 a0002c0002t0009g0074 others(7): Show |
10 | 16 | 0.6250 | 9 | c.107 others(28): Show |
NOL9 | ENSG00000162408.11 | transcript | ENST00000377705.6 | protein_coding | 6/11 | chr1 | TogoVar | |||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01346.hp2 NA18950.hp1 others(4): Show |
a0001a0006a0018 | a0001c0001a0001c0021a0006c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0021t0003others(2): Show | a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0084 others(4): Show |
7 | 67 | 0.1045 | 9 | c.180 others(26): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG01192.hp1 others(5): Show |
a0001a0016 | a0001c0001a0016c0024 | a0001c0001t0001a0016c0024t0001 | a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0001g0065 others(5): Show |
8 | 68 | 0.1176 | 9 | c.180 others(26): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOP10_chr15_34336719_34348136 | 34346881 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 202 | 0.0446 | 9 | c.-38 others(20): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3746 | chr15 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2960885 | T | TAATATAT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03239.hp2 HG03516.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0010 | a0001c0001t0001g0107 a0002c0002t0001g0075 a0002c0002t0001g0085 others(1): Show |
4 | 418 | 0.0096 | 9 | c.195 others(26): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NOP53_chr19_47740546_47762058 | 47741512 | C | CGCCCTGC others(2): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001a0003 | a0001c0008a0003c0004 | a0001c0008t0001a0003c0004t0001 | a0001c0008t0001g0031 a0001c0008t0001g0032 a0001c0008t0001g0069 others(4): Show |
15 | 402 | 0.0373 | 9 | c.-40 others(20): Show |
NOP53 | ENSG00000105373.19 | transcript | ENST00000246802.10 | protein_coding | 4033 | chr19 | TogoVar | |||||||
NOP56_chr20_2647632_2663393 | 2648929 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG01123.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0009 a0001c0002t0002g0032 a0002c0003t0001g0021 others(3): Show |
10 | 102 | 0.0980 | 9 | c.-37 others(20): Show |
NOP56 | ENSG00000101361.17 | transcript | ENST00000329276.10 | protein_coding | 3702 | chr20 | TogoVar | |||||||
NOP56_chr20_2647632_2663393 | 2648971 | T | TAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0021 |
5 | 368 | 0.0136 | 9 | c.-36 others(20): Show |
NOP56 | ENSG00000101361.17 | transcript | ENST00000329276.10 | protein_coding | 3660 | chr20 | TogoVar | |||||||
NOP56_chr20_2647632_2663393 | 2663187 | G | GAAATGCA others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG00741.hp2 others(31): Show |
a0002 | a0002c0003a0002c0010a0002c0014 | a0002c0003t0001a0002c0003t0002a0002c0010t0001others(1): Show | a0002c0003t0001g0005 a0002c0003t0001g0010 a0002c0003t0001g0030 others(6): Show |
34 | 446 | 0.0762 | 9 | c.*48 others(20): Show |
NOP56 | ENSG00000101361.17 | transcript | ENST00000329276.10 | protein_coding | 4795 | chr20 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162124507 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0003a0001c0003t0013 | a0001c0001t0012g0170 a0001c0001t0012g0173 a0001c0003t0003g0147 others(3): Show |
6 | 141 | 0.0426 | 9 | c.106 others(28): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162237867 | T | TTTTCAGA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 others(98): Show |
101 | 180 | 0.5611 | 9 | c.178 others(28): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1_chr12_117203142_117366626 | 117256284 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG00741.hp2 others(36): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0013a0001c0001t0018a0001c0001t0046others(29): Show | a0001c0001t0013g0196 a0001c0001t0013g0285 a0001c0001t0018g0026 others(36): Show |
39 | 124 | 0.3145 | 9 | c.253 others(28): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 16/28 | chr12 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136540616 | T | TATCAGCC others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp2 others(25): Show |
a0001a0009a0023 | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0012a0001c0001t0019a0001c0003t0002others(12): Show | a0001c0001t0012g0001 a0001c0001t0019g0008 a0001c0003t0002g0049 others(24): Show |
28 | 322 | 0.0870 | 9 | c.140 others(26): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH2NLA_chr1_146143865_146234021 | 146193726 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(28): Show |
31 | 54 | 0.5741 | 9 | c.-44 others(26): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
NOTCH2NLB_chr1_148595285_148684746 | 148610892 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0017 | a0001c0001t0010g0019 a0001c0001t0011g0021 a0001c0001t0017g0026 |
3 | 20 | 0.1500 | 9 | c.338 others(26): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
NOTCH2NLB_chr1_148595285_148684746 | 148651144 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03710.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 others(1): Show |
4 | 28 | 0.1429 | 9 | c.4-1 others(24): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
NOTCH2NLB_chr1_148595285_148684746 | 148679551 | T | TCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01071.hp2 HG01106.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(16): Show |
19 | 32 | 0.5938 | 9 | c.-96 others(16): Show |
NOTCH2NLB | ENSG00000286019.2 | transcript | ENST00000593495.4 | protein_coding | 1/5 | 88 | chr1 | TogoVar | ||||||
NOTCH2NLC_chr1_149385621_149476833 | 149390802 | A | AGGCGGCG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01081.hp2 HG02109.hp1 HG02559.hp1 others(6): Show |
a0011 | a0011c0010a0011c0032 | a0011c0010t0001a0011c0010t0005a0011c0010t0012others(3): Show | a0011c0010t0001g0001 a0011c0010t0001g0126 a0011c0010t0001g0148 others(6): Show |
9 | 47 | 0.1915 | 9 | c.36_ others(14): Show |
p.Gly others(11): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/5 | 212/8729 | 45/882 | 15/293 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NOTCH2NLC_chr1_149385621_149476833 | 149419855 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02698.hp2 NA18951.hp1 NA18962.hp2 others(2): Show |
a0006 | a0006c0006 | a0006c0006t0007a0006c0006t0056 | a0006c0006t0007g0069 a0006c0006t0007g0070 a0006c0006t0007g0071 others(2): Show |
5 | 150 | 0.0333 | 9 | c.136 others(28): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2NLR_chr1_120718945_120799851 | 120754202 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(110): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show |
113 | 145 | 0.7793 | 9 | c.74- others(24): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2_chr1_119906553_120074662 | 120069426 | T | TCCTCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02723.hp2 |
a0002 | a0002c0011 | a0002c0011t0009 | a0002c0011t0009g0002 a0002c0011t0009g0003 |
2 | 163 | 0.0123 | 9 | c.-21 others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 21 | chr1 | TogoVar | ||||||
NOTCH3_chr19_15154038_15205995 | 15173054 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03834.hp1 NA18983.hp1 others(2): Show |
a0002a0028 | a0002c0002a0002c0007a0028c0042 | a0002c0002t0002a0002c0007t0002a0002c0007t0006others(1): Show | a0002c0002t0002g0147 a0002c0002t0002g0154 a0002c0007t0002g0020 others(2): Show |
5 | 292 | 0.0171 | 9 | c.473 others(28): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | |||||||
NOTCH3_chr19_15154038_15205995 | 15173066 | T | TTCCTCTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01952.hp1 HG02300.hp1 others(11): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0005a0001c0051others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0051t0001others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0209 a0001c0001t0001g0260 others(11): Show |
14 | 292 | 0.0479 | 9 | c.473 others(28): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | |||||||
NOTCH3_chr19_15154038_15205995 | 15175552 | A | AAAAATAC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01981.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0051 | a0001c0001t0001a0001c0005t0005a0001c0005t0021others(1): Show | a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0198 others(10): Show |
13 | 183 | 0.0710 | 9 | c.440 others(28): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 24/32 | chr19 | TogoVar | |||||||
NOTCH4_chr6_32189843_32229067 | 32223881 | T | TAGCAGCA others(2): Show |
disruptive_inframe_insertion | MODERATE | HG03834.hp2 NA18948.hp1 NA19066.hp1 others(1): Show |
a0011 | a0011c0029 | a0011c0029t0002 | a0011c0029t0002g0019 | 4 | 124 | 0.0323 | 9 | c.39_ others(14): Show |
p.Leu others(11): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 1/30 | 186/6745 | 47/6012 | 16/2003 | chr6 | TogoVar | |||
NOVA1_chr14_26438090_26603033 | 26601838 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 others(61): Show |
64 | 90 | 0.7111 | 9 | c.-44 others(20): Show |
NOVA1 | ENSG00000139910.20 | transcript | ENST00000539517.7 | protein_coding | 3806 | chr14 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89325115 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01978.hp1 HG03098.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0028a0001c0002t0036others(1): Show | a0001c0002t0006g0020 a0001c0002t0006g0024 a0001c0002t0006g0034 others(10): Show |
13 | 135 | 0.0963 | 9 | c.*16 others(20): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 18/18 | 1640 | chr11 | TogoVar | ||||||
NOX4_chr11_89319353_89496375 | 89418422 | G | GAATAATA others(2): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02080.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0096 | a0001c0001t0001g0033 a0001c0001t0002g0256 a0001c0001t0096g0241 |
3 | 56 | 0.0536 | 9 | c.629 others(26): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 8/17 | chr11 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89493721 | T | TTTTTTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01516.hp1 HG01516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0052a0001c0001t0056others(1): Show | a0001c0001t0001g0001 a0001c0001t0052g0094 a0001c0001t0056g0127 others(1): Show |
4 | 99 | 0.0404 | 9 | c.-24 others(20): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2347 | chr11 | TogoVar | |||||||
NOXRED1_chr14_77389021_77428523 | 77408892 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02630.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0001g0253 a0001c0001t0005g0183 a0001c0001t0005g0184 others(3): Show |
6 | 23 | 0.2609 | 9 | c.350 others(26): Show |
NOXRED1 | ENSG00000165555.10 | transcript | ENST00000380835.7 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
NPAS1_chr19_47014837_47050775 | 47016847 | G | GAAAGAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG02015.hp2 NA18966.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0002t0001a0001c0014t0001 | a0001c0001t0001g0375 a0001c0001t0001g0380 a0001c0002t0001g0381 others(1): Show |
4 | 416 | 0.0096 | 9 | c.-31 others(20): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 2989 | chr19 | TogoVar | |||||||
NPAS1_chr19_47014837_47050775 | 47035191 | A | AAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0044 others(49): Show |
53 | 94 | 0.5638 | 9 | c.523 others(24): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NPAS1_chr19_47014837_47050775 | 47043278 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00597.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 others(62): Show |
67 | 121 | 0.5537 | 9 | c.131 others(26): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100850953 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18970.hp1 NA18990.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0003g0114 others(5): Show |
8 | 63 | 0.1270 | 9 | c.-23 others(28): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS2_chr2_100815139_101001829 | 100959110 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0101 others(5): Show |
8 | 177 | 0.0452 | 9 | c.599 others(26): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |