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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NCR2_chr6_41330608_41355889 | 41353385 | G | GAGCTCCG others(26): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 436 | 0.0023 | 33 | c.*25 others(44): Show |
NCR2 | ENSG00000096264.14 | transcript | ENST00000373089.10 | protein_coding | 2497 | chr6 | TogoVar | |||||||
NCS1_chr9_130167404_130242303 | 130221938 | A | ATATATAA others(26): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01884.hp1 HG01993.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0030a0001c0001t0121others(4): Show | a0001c0001t0019g0080 a0001c0001t0030g0176 a0001c0001t0121g0076 others(4): Show |
7 | 335 | 0.0209 | 33 | c.308 others(48): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NDC1_chr1_53760478_53843296 | 53825460 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 a0001c0001t0002g0069 |
2 | 158 | 0.0127 | 33 | c.594 others(48): Show |
NDC1 | ENSG00000058804.12 | transcript | ENST00000371429.4 | protein_coding | 5/17 | chr1 | TogoVar | |||||||
NDC1_chr1_53760478_53843296 | 53825460 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 157 | 0.0064 | 33 | c.594 others(48): Show |
NDC1 | ENSG00000058804.12 | transcript | ENST00000371429.4 | protein_coding | 5/17 | chr1 | TogoVar | |||||||
NDE1_chr16_15645245_15731353 | 15712882 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 NA18940.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0256 a0001c0001t0002g0227 a0001c0001t0002g0264 others(1): Show |
4 | 126 | 0.0317 | 33 | c.948 others(52): Show |
NDE1 | ENSG00000072864.16 | transcript | ENST00000396354.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NDE1_chr16_15645245_15731353 | 15721762 | G | GCTATGGG others(26): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 366 | 0.0027 | 33 | c.948 others(50): Show |
NDE1 | ENSG00000072864.16 | transcript | ENST00000396354.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NDUFA11_chr19_5889675_5908790 | 5907610 | T | TAAAAAAA others(26): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 33 | c.-39 others(44): Show |
NDUFA11 | ENSG00000174886.14 | transcript | ENST00000308961.5 | protein_coding | 3821 | chr19 | TogoVar | |||||||
NDUFAB1_chr16_23576014_23601316 | 23584255 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18948.hp2 NA19011.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0197 a0001c0001t0001g0224 |
3 | 25 | 0.1200 | 33 | c.379 others(50): Show |
NDUFAB1 | ENSG00000004779.10 | transcript | ENST00000007516.8 | protein_coding | 3/4 | chr16 | TogoVar | |||||||
NDUFAF2_chr5_60940205_61158026 | 61136005 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 24 | 0.0417 | 33 | c.259 others(52): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
NDUFAF8_chr17_81234318_81246310 | 81243790 | G | GCTGAGTG others(26): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 286 | 0.0035 | 33 | c.*27 others(44): Show |
NDUFAF8 | ENSG00000224877.4 | transcript | ENST00000431388.3 | protein_coding | 2481 | chr17 | TogoVar | |||||||
NDUFC2_chr11_78063297_78084862 | 78078728 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0116 a0001c0001t0001g0117 others(2): Show |
12 | 101 | 0.1188 | 33 | c.166 others(48): Show |
NDUFC2 | ENSG00000151366.13 | transcript | ENST00000281031.5 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
NDUFS1_chr2_206109817_206164444 | 206140930 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0006 | a0001c0006t0037 | a0001c0006t0037g0033 | 1 | 325 | 0.0031 | 33 | c.126 others(52): Show |
NDUFS1 | ENSG00000023228.15 | transcript | ENST00000233190.11 | protein_coding | 12/18 | chr2 | TogoVar | |||||||
NEDD1_chr12_96902257_96958780 | 96932457 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0099 | 1 | 333 | 0.0030 | 33 | c.490 others(50): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | chr12 | TogoVar | |||||||
NEDD1_chr12_96902257_96958780 | 96932463 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0220 |
2 | 27 | 0.0741 | 33 | c.490 others(50): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NEDD1_chr12_96902257_96958780 | 96932463 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03017.hp1 NA18982.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0001g0219 a0001c0001t0002g0144 others(1): Show |
4 | 29 | 0.1379 | 33 | c.490 others(50): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NEDD1_chr12_96902257_96958780 | 96932463 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 a0001c0001t0001g0227 |
2 | 27 | 0.0741 | 33 | c.490 others(50): Show |
NEDD1 | ENSG00000139350.12 | transcript | ENST00000266742.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 20915718 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 71 | 0.0141 | 33 | c.604 others(50): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 5/19 | chr11 | TogoVar | |||||||
NELL2_chr12_44503278_44881315 | 44587284 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 79 | 0.0127 | 33 | c.166 others(54): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | |||||||
NELL2_chr12_44503278_44881315 | 44797828 | A | AATTCCAT others(26): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0004 | a0001c0001t0002g0062 a0003c0003t0004g0004 |
2 | 132 | 0.0152 | 33 | c.336 others(52): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
NELL2_chr12_44503278_44881315 | 44797984 | T | TCATTCCA others(26): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0004 | a0001c0001t0002g0062 a0003c0003t0004g0004 |
2 | 146 | 0.0137 | 33 | c.335 others(52): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
NEMF_chr14_49777083_49857788 | 49855811 | T | TATATTTA others(26): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01123.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0116 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show |
7 | 220 | 0.0318 | 33 | c.-30 others(44): Show |
NEMF | ENSG00000165525.18 | transcript | ENST00000298310.10 | protein_coding | 3024 | chr14 | TogoVar | |||||||
NEO1_chr15_73047463_73310205 | 73257132 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0253 a0001c0001t0003g0264 |
2 | 5 | 0.4000 | 33 | c.209 others(52): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241806497 | T | TCCTCCCC others(26): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 312 | 0.0032 | 33 | c.-27 others(44): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2695 | chr2 | TogoVar | |||||||
NEURL1B_chr5_172636263_172696540 | 172663054 | A | AAATAATA others(26): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01346.hp1 HG01515.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0014 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(3): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 others(9): Show |
12 | 301 | 0.0399 | 33 | c.32- others(48): Show |
NEURL1B | ENSG00000214357.9 | transcript | ENST00000369800.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NEURL1B_chr5_172636263_172696540 | 172663829 | T | TTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0317 | 1 | 158 | 0.0063 | 33 | c.32- others(48): Show |
NEURL1B | ENSG00000214357.9 | transcript | ENST00000369800.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NEURL1B_chr5_172636263_172696540 | 172667275 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0052 a0002c0003t0006g0007 a0002c0003t0006g0051 |
4 | 83 | 0.0482 | 33 | c.32- others(48): Show |
NEURL1B | ENSG00000214357.9 | transcript | ENST00000369800.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NFAT5_chr16_69560966_69709654 | 69688202 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00738.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0131 a0001c0001t0010g0164 |
2 | 175 | 0.0114 | 33 | c.177 others(52): Show |
NFAT5 | ENSG00000102908.23 | transcript | ENST00000349945.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79395594 | T | TGCGCCCC others(26): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0006 | a0001c0001t0006g0100 a0001c0004t0006g0099 |
2 | 315 | 0.0063 | 33 | c.-63 others(42): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 335 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79462764 | G | GCAGTGCG others(26): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0006a0008others(1): Show | a0001c0006a0001c0008a0001c0025others(4): Show | a0001c0006t0002a0001c0006t0049a0001c0008t0005others(8): Show | a0001c0006t0002g0307 a0001c0006t0049g0049 a0001c0008t0005g0287 others(8): Show |
11 | 320 | 0.0344 | 33 | c.195 others(52): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79525017 | C | CTACCCCT others(26): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0006 | a0001c0006t0049 | a0001c0006t0049g0049 | 1 | 314 | 0.0032 | 33 | c.278 others(52): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79525094 | G | GCCTCCCC others(26): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01433.hp2 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0001 | a0001c0004t0002g0300 a0001c0004t0002g0301 a0002c0003t0001g0216 |
3 | 182 | 0.0165 | 33 | c.278 others(52): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79525484 | C | CCTCAGTC others(26): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03486.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0002a0001c0006t0002 | a0001c0004t0002g0315 a0001c0006t0002g0307 |
2 | 294 | 0.0068 | 33 | c.278 others(52): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC2_chr20_51381963_51547719 | 51394717 | T | TCCCCAAG others(26): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02559.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0020a0001c0001t0021a0001c0001t0024others(9): Show | a0001c0001t0020g0070 a0001c0001t0020g0252 a0001c0001t0021g0009 others(11): Show |
14 | 314 | 0.0446 | 33 | c.*45 others(50): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61458379 | T | TTGCACCT others(26): Show |
3_prime_UTR_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0080 | 1 | 154 | 0.0065 | 33 | c.*30 others(44): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 11/11 | 3061 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NFKBIA_chr14_35396513_35409749 | 35402482 | G | GTCAGCTG others(26): Show |
conservative_inframe_insertion | MODERATE | NA19055.hp1 | a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0043 | 1 | 460 | 0.0022 | 33 | c.785 others(40): Show |
p.Ser others(13): Show |
NFKBIA | ENSG00000100906.12 | transcript | ENST00000216797.10 | protein_coding | 5/6 | 922/1559 | 817/954 | 273/317 | chr14 | TogoVar | |||
NGB_chr14_77260483_77276206 | 77269723 | T | TCCTCCCT others(26): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 278 | 0.0036 | 33 | c.90- others(46): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NGB_chr14_77260483_77276206 | 77269725 | T | TCCCTCCC others(26): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 306 | 0.0033 | 33 | c.90- others(46): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NGB_chr14_77260483_77276206 | 77269726 | C | CCCTCCCT others(26): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 324 | 0.0031 | 33 | c.90- others(46): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NGB_chr14_77260483_77276206 | 77269727 | T | TCCCTCCC others(26): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 285 | 0.0035 | 33 | c.90- others(46): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232906111 | A | AGGTGAGG others(26): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0213 | 1 | 360 | 0.0028 | 33 | c.829 others(52): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232969472 | T | TCCTTCCT others(26): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 245 | 0.0041 | 33 | c.383 others(48): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232993177 | A | AATAAATA others(26): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02630.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0001t0029others(1): Show | a0001c0001t0002g0315 a0001c0001t0014g0203 a0001c0001t0014g0205 others(2): Show |
5 | 360 | 0.0139 | 33 | c.-74 others(52): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995089 | A | ATACATAC others(26): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 209 | 0.0048 | 33 | c.-75 others(52): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995089 | A | ATGTATAC others(26): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(72): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0251 a0001c0001t0001g0262 a0001c0001t0002g0242 others(71): Show |
75 | 283 | 0.2650 | 33 | c.-75 others(52): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995094 | T | TACTGTAT others(26): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02129.hp1 HG02155.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0026others(4): Show | a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0339 others(13): Show |
16 | 359 | 0.0446 | 33 | c.-75 others(52): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995125 | G | GTATACTG others(26): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0012others(2): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0002 others(5): Show |
9 | 187 | 0.0481 | 33 | c.-75 others(52): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995365 | G | GCATGTAT others(26): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0212 | 1 | 360 | 0.0028 | 33 | c.-75 others(52): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995746 | A | AATATGTA others(26): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0358 | 1 | 360 | 0.0028 | 33 | c.-75 others(52): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHSL2_chrX_71905845_72158286 | 72048987 | G | GAGAAGAA others(26): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03688.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0034a0001c0001t0050others(1): Show | a0001c0001t0001g0069 a0001c0001t0034g0175 a0001c0001t0050g0070 others(1): Show |
4 | 157 | 0.0255 | 33 | c.281 others(52): Show |
NHSL2 | ENSG00000204131.11 | transcript | ENST00000633930.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NHS_chrX_17370200_17740994 | 17521366 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0115 | 1 | 146 | 0.0068 | 33 | c.565 others(54): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar |