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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAALADL2_chr3_174854334_175815548 | 174987812 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0019a0003c0004t0003 | a0001c0001t0019g0002 a0003c0004t0003g0028 |
2 | 44 | 0.0455 | 50 | c.44- others(69): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136042828 | T | TCACACAC others(43): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0075a0002c0006t0054 | a0001c0002t0075g0041 a0002c0006t0054g0242 |
2 | 346 | 0.0058 | 50 | c.886 others(67): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NADK_chr1_1746232_1783470 | 1749605 | C | CGTCCATG others(43): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0015others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(34): Show | a0001c0001t0002g0091 a0001c0001t0004g0001 a0001c0001t0004g0015 others(248): Show |
303 | 394 | 0.7690 | 50 | c.*32 others(61): Show |
NADK | ENSG00000008130.15 | transcript | ENST00000341426.9 | protein_coding | 1626 | chr1 | TogoVar | |||||||
NAGK_chr2_71063648_71084808 | 71081015 | T | TTTTATTT others(43): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0002 | 1 | 394 | 0.0025 | 50 | c.*25 others(61): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1208 | chr2 | TogoVar | |||||||
NAGK_chr2_71063648_71084808 | 71081020 | T | TTTTATTT others(43): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 357 | 0.0028 | 50 | c.*25 others(61): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1213 | chr2 | TogoVar | |||||||
NAGK_chr2_71063648_71084808 | 71081025 | T | TTTATATT others(43): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG01433.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 |
3 | 430 | 0.0070 | 50 | c.*25 others(61): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1218 | chr2 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107783266 | T | TCGCCCCG others(43): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0071 | 1 | 41 | 0.0244 | 50 | c.915 others(69): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107783266 | T | TCGCCCCG others(43): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0063 others(82): Show |
85 | 125 | 0.6800 | 50 | c.915 others(69): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107783273 | G | GTCAGGGA others(43): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02809.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0030a0001c0001t0063others(3): Show | a0001c0001t0010g0035 a0001c0001t0030g0018 a0001c0001t0063g0034 others(3): Show |
6 | 128 | 0.0469 | 50 | c.915 others(69): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NAPEPLD_chr7_103094776_103154099 | 103099575 | C | CGTGTGTG others(43): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0133 a0001c0001t0005g0012 |
2 | 59 | 0.0339 | 50 | c.*38 others(61): Show |
NAPEPLD | ENSG00000161048.12 | transcript | ENST00000465647.6 | protein_coding | 200 | chr7 | TogoVar | |||||||
NAV1_chr1_201534127_201831969 | 201642551 | T | TTCTTTCT others(43): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0013 | a0001c0013t0080 | a0001c0013t0080g0188 | 1 | 181 | 0.0055 | 50 | c.827 others(67): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201642551 | T | TTCTTTCT others(43): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0034 | a0001c0001t0012g0003 a0001c0001t0034g0110 |
2 | 182 | 0.0110 | 50 | c.827 others(67): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19897886 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG01952.hp1 NA19088.hp1 |
a0001a0009 | a0001c0069a0009c0113 | a0001c0069t0004a0009c0113t0001 | a0001c0069t0004g0019 a0009c0113t0001g0061 |
2 | 90 | 0.0222 | 50 | c.931 others(67): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAXD_chr13_110610545_110644996 | 110641504 | T | TGTCGTGA others(43): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0051 | 1 | 390 | 0.0026 | 50 | c.*29 others(61): Show |
NAXD | ENSG00000213995.12 | transcript | ENST00000680254.1 | protein_coding | 1509 | chr13 | TogoVar | |||||||
NBL1_chr1_19639311_19663452 | 19649969 | G | GTTTTCTT others(43): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0203 | 1 | 408 | 0.0025 | 50 | c.-19 others(67): Show |
NBL1 | ENSG00000158747.15 | transcript | ENST00000375136.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148112152 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02280.hp1 others(6): Show |
a0005 | a0005c0004 | a0005c0004t0004a0005c0004t0024 | a0005c0004t0004g0227 a0005c0004t0004g0228 a0005c0004t0004g0229 others(6): Show |
9 | 284 | 0.0317 | 50 | c.163 others(69): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 15/23 | chr1 | TogoVar | |||||||
NCAM2_chr21_20993409_21548329 | 21214723 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0108 | 1 | 132 | 0.0076 | 50 | c.56- others(67): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21430394 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0118 | 1 | 96 | 0.0104 | 50 | c.148 others(69): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCBP3_chr17_3797158_3851246 | 3797356 | G | GGTTAGCC others(43): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 368 | 0.0027 | 50 | c.*15 others(63): Show |
NCBP3 | ENSG00000074356.17 | transcript | ENST00000389005.6 | protein_coding | 4801 | chr17 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105807767 | T | TCTCCCTC others(43): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01074.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0026 a0001c0001t0001g0094 a0001c0001t0001g0099 others(58): Show |
61 | 154 | 0.3961 | 50 | c.-20 others(69): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCOA3_chr20_47496887_47661872 | 47541354 | C | CCCTCCCC others(43): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01243.hp2 others(39): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0008a0001c0003t0011a0001c0003t0012others(8): Show | a0001c0001t0008g0025 a0001c0001t0008g0029 a0001c0001t0008g0030 others(39): Show |
42 | 314 | 0.1338 | 50 | c.-99 others(69): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NCOR1_chr17_16024157_16220534 | 16077454 | A | AGAGGAGA others(43): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00735.hp2 others(46): Show |
a0001a0006a0007 | a0001c0001a0001c0007a0001c0018others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0019others(6): Show | a0001c0001t0002g0007 a0001c0001t0002g0051 a0001c0001t0002g0149 others(46): Show |
49 | 200 | 0.2450 | 50 | c.350 others(69): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 26/45 | chr17 | TogoVar | |||||||
NCR1_chr19_54901148_54918073 | 54917191 | G | GTGGGTTA others(43): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 456 | 0.0022 | 50 | c.*43 others(61): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 4119 | chr19 | TogoVar | |||||||
NDRG4_chr16_58495143_58518619 | 58516148 | G | GCGGGGCG others(43): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0022 | 2 | 301 | 0.0066 | 50 | c.*45 others(61): Show |
NDRG4 | ENSG00000103034.15 | transcript | ENST00000570248.6 | protein_coding | 2530 | chr16 | TogoVar | |||||||
NDUFAB1_chr16_23576014_23601316 | 23576484 | G | GCTTCTCA others(43): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 358 | 0.0028 | 50 | c.*46 others(61): Show |
NDUFAB1 | ENSG00000004779.10 | transcript | ENST00000007516.8 | protein_coding | 4529 | chr16 | TogoVar | |||||||
NDUFS5_chr1_39021350_39039615 | 39022281 | T | TGTGTTTG others(43): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 436 | 0.0023 | 50 | c.-41 others(61): Show |
NDUFS5 | ENSG00000168653.11 | transcript | ENST00000372969.8 | protein_coding | 4068 | chr1 | TogoVar | |||||||
NECAB1_chr8_90786775_90964393 | 90906887 | A | ATGTATAT others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0231 | 1 | 172 | 0.0058 | 50 | c.358 others(69): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NEK10_chr3_27101484_27374383 | 27282548 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0005 | a0004c0005t0024 | a0004c0005t0024g0229 | 1 | 115 | 0.0087 | 50 | c.201 others(69): Show |
NEK10 | ENSG00000163491.18 | transcript | ENST00000691995.1 | protein_coding | 22/35 | chr3 | TogoVar | |||||||
NELFB_chr9_137250327_137278542 | 137275886 | A | ACCCCACC others(43): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 362 | 0.0028 | 50 | c.*29 others(61): Show |
NELFB | ENSG00000188986.9 | transcript | ENST00000343053.6 | protein_coding | 2345 | chr9 | TogoVar | |||||||
NELL2_chr12_44503278_44881315 | 44797946 | T | TGATGGAA others(43): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0117 |
2 | 98 | 0.0204 | 50 | c.336 others(69): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
NEMF_chr14_49777083_49857788 | 49821268 | C | CTCAGCCC others(43): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0005 | 1 | 220 | 0.0045 | 50 | c.157 others(69): Show |
NEMF | ENSG00000165525.18 | transcript | ENST00000298310.10 | protein_coding | 16/32 | chr14 | TogoVar | |||||||
NEO1_chr15_73047463_73310205 | 73295125 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 194 | 0.0052 | 50 | c.390 others(69): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NETO2_chr16_47072703_47148945 | 47115714 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0022 | 1 | 155 | 0.0065 | 50 | c.655 others(67): Show |
NETO2 | ENSG00000171208.10 | transcript | ENST00000562435.6 | protein_coding | 6/8 | chr16 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805963 | T | TCTGCAGG others(43): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0171 | 1 | 247 | 0.0040 | 50 | c.-33 others(61): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3229 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805963 | T | TCTGCAGG others(43): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0056 | 1 | 247 | 0.0040 | 50 | c.-33 others(61): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3229 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806159 | C | CCCTCCCT others(43): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0028 | 1 | 285 | 0.0035 | 50 | c.-31 others(61): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3033 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806532 | A | ACCCTCCC others(43): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0005 | 1 | 211 | 0.0047 | 50 | c.-27 others(61): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2660 | chr2 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395578 | T | TGCGCCCC others(43): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0007 | a0007c0030 | a0007c0030t0005 | a0007c0030t0005g0117 | 1 | 319 | 0.0031 | 50 | c.-64 others(59): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 351 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395581 | G | GCCCCCCC others(43): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0021 | 1 | 257 | 0.0039 | 50 | c.-64 others(59): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 348 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395660 | G | GGCGCCCC others(43): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0025 | a0001c0025t0025 | a0001c0025t0025g0047 | 1 | 311 | 0.0032 | 50 | c.-56 others(59): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 269 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395660 | G | GGCGCCCC others(43): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01168.hp1 |
a0002 | a0002c0011a0002c0022 | a0002c0011t0001a0002c0022t0001 | a0002c0011t0001g0230 a0002c0022t0001g0232 |
2 | 312 | 0.0064 | 50 | c.-56 others(59): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 269 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79395681 | C | CCCCCCTC others(43): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0008 | a0001c0008t0012 | a0001c0008t0012g0009 | 1 | 304 | 0.0033 | 50 | c.-54 others(59): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 248 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79425271 | C | CTCTGTTT others(43): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(40): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0002others(25): Show | a0001c0001t0001g0006 a0001c0001t0001g0259 a0001c0001t0003g0146 others(40): Show |
43 | 245 | 0.1755 | 50 | c.122 others(69): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61466755 | A | ATATATAT others(43): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 NA19000.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0031 | a0001c0001t0002g0149 a0001c0002t0031g0088 |
2 | 121 | 0.0165 | 50 | c.*11 others(63): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3968 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61466755 | A | ATATATAT others(43): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0023 | 1 | 120 | 0.0083 | 50 | c.*11 others(63): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3968 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61466755 | A | ATATATAT others(43): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 120 | 0.0083 | 50 | c.*11 others(63): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3968 | chr1 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8656443 | C | CCTGAAGC others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03239.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0006 | a0001c0001t0005g0141 a0003c0003t0006g0307 |
2 | 340 | 0.0059 | 50 | c.-16 others(71): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8663734 | G | GTGTATGT others(43): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0165 | 1 | 360 | 0.0028 | 50 | c.-16 others(71): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232900613 | T | TTCACTCA others(43): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0016 | a0004c0016t0022 | a0004c0016t0022g0007 | 1 | 166 | 0.0060 | 50 | c.829 others(67): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232905894 | G | GGGGGGGT others(43): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0154 | 1 | 360 | 0.0028 | 50 | c.829 others(69): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar |