regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NFIB_chr9_14076848_14319141 | 14217660 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01257.hp2 HG01358.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(11): Show | a0001c0001t0001g0113a0001c0001t0001g0133a0001c0001t0001g0167others(17): Show | 20 | 304 | 0.0658 | 18 | c.563 others(37): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
NFIB_chr9_14076848_14319141 | 14274251 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02155.hp1 HG02486.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0260a0001c0001t0002g0243a0001c0001t0002g0292others(9): Show | 12 | 304 | 0.0395 | 18 | c.562 others(37): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3363228 | T | TGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01123.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(10): Show | a0001c0001t0001g0025a0001c0001t0006g0241a0001c0001t0024g0047others(10): Show | 13 | 300 | 0.0433 | 18 | c.-34 others(29): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 3354 | chr19 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3368913 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03041.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0113a0001c0001t0243a0001c0002t0078 | a0001c0001t0113g0034a0001c0001t0243g0234a0001c0002t0078g0033 | 3 | 300 | 0.0100 | 18 | c.30+ others(33): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3371998 | C | CCTCCCTC others(11): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 300 | 0.0033 | 18 | c.30+ others(33): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3411609 | C | CACTCCCG others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0259 | 1 | 300 | 0.0033 | 18 | c.563 others(37): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIC_chr19_3361583_3474217 | 3464178 | C | CCGACGCG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0073a0001c0001t0074 | a0001c0001t0057g0074a0001c0001t0073g0243a0001c0001t0074g0154 | 3 | 300 | 0.0100 | 18 | c.*14 others(29): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 1430 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
NFIC_chr19_3361583_3474217 | 3467758 | C | CATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01516.hp2 HG01884.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0016a0001c0001t0067a0001c0001t0130others(13): Show | a0001c0001t0016g0082a0001c0001t0016g0263a0001c0001t0067g0076others(14): Show | 17 | 300 | 0.0567 | 18 | c.*50 others(29): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 11/11 | 5021 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
NFILZ_chr19_8625633_8686151 | 8647748 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 366 | 0.0027 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8652995 | C | CTTCTTTC others(11): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0003 | a0003c0003 | a0003c0003t0076 | a0003c0003t0076g0356 | 1 | 366 | 0.0027 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8653040 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0056 | 1 | 366 | 0.0027 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656203 | G | GTTCTCCC others(11): Show |
intron_variant | MODIFIER | HG01168.hp2 NA18906.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0127a0001c0001t0131a0001c0001t0146 | a0001c0001t0127g0056a0001c0001t0131g0351a0001c0001t0146g0055 | 3 | 366 | 0.0082 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656203 | G | GTTCTCCC others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0334 | 1 | 366 | 0.0027 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656219 | A | ACCTTCTC others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0018a0001c0001t0001g0052a0001c0001t0001g0313others(40): Show | 43 | 366 | 0.1175 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656329 | C | CACCTCCT others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02074.hp1 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0272a0001c0001t0001g0355a0001c0001t0004g0104others(2): Show | 5 | 366 | 0.0137 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656336 | T | TCCTGAAG others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18950.hp2 NA18956.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0002c0002t0091others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0014g0031others(3): Show | 6 | 366 | 0.0164 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656355 | C | CCTGCAGC others(11): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0154 | a0001c0001t0154g0181 | 1 | 366 | 0.0027 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656461 | T | TCTGAAGC others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0124 | 1 | 366 | 0.0027 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656482 | C | CAGCCCAC others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0143 | a0001c0001t0022g0103a0001c0001t0143g0102 | 2 | 366 | 0.0055 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656495 | C | CTCTGAAA others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03453.hp1 HG03490.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0028a0001c0001t0060a0003c0003t0033 | a0001c0001t0028g0247a0001c0001t0060g0124a0003c0003t0033g0026others(1): Show | 4 | 366 | 0.0109 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656499 | C | CAGCCCAC others(11): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0201 | 1 | 366 | 0.0027 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8663730 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02572.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0032a0001c0001t0042a0001c0001t0160others(2): Show | a0001c0001t0032g0125a0001c0001t0042g0099a0001c0001t0160g0153others(3): Show | 6 | 366 | 0.0164 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8663732 | G | GTATGTGT others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0008 | a0008c0010 | a0008c0010t0116 | a0008c0010t0116g0110 | 1 | 366 | 0.0027 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8663736 | G | GCATGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG00735.hp2 others(64): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0018a0001c0001t0001g0075a0001c0001t0001g0157others(64): Show | 67 | 366 | 0.1831 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663736 | G | GTATGTGT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02572.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0031a0001c0001t0051a0001c0001t0054others(4): Show | a0001c0001t0031g0061a0001c0001t0031g0130a0001c0001t0031g0334others(6): Show | 9 | 366 | 0.0246 | 18 | c.-16 others(39): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIX_chr19_12990475_13103796 | 13023070 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01952.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0124a0001c0001t0003g0181a0001c0001t0005g0120others(11): Show | 14 | 252 | 0.0556 | 18 | c.28- others(33): Show |
NFIX | ENSG00000008441.19 | transcript | ENST00000592199.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFIX_chr19_12990475_13103796 | 13100314 | A | ATGGCTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0247a0001c0001t0011g0251a0001c0001t0011g0252 | 3 | 252 | 0.0119 | 18 | c.*56 others(29): Show |
NFIX | ENSG00000008441.19 | transcript | ENST00000592199.6 | protein_coding | 1519 | chr19 | TogoVar | ||||||
NFKB1_chr4_102496359_102622302 | 102502390 | G | GCGCACAC others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 328 | 0.0031 | 18 | c.-8+ others(31): Show |
NFKB1 | ENSG00000109320.14 | transcript | ENST00000226574.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NFKB1_chr4_102496359_102622302 | 102502390 | G | GCGCGCAC others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 328 | 0.0031 | 18 | c.-8+ others(31): Show |
NFKB1 | ENSG00000109320.14 | transcript | ENST00000226574.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NFKB1_chr4_102496359_102622302 | 102609158 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01257.hp2 NA18970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0243a0001c0001t0002g0282a0001c0001t0002g0314others(2): Show | 5 | 328 | 0.0152 | 18 | c.222 others(37): Show |
NFKB1 | ENSG00000109320.14 | transcript | ENST00000226574.9 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NFKBIA_chr14_35396513_35409749 | 35402235 | A | AGTAAGCT others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 462 | 0.0043 | 18 | c.906 others(33): Show |
NFKBIA | ENSG00000100906.12 | transcript | ENST00000216797.10 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
NFU1_chr2_69391126_69442435 | 69404615 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01433.hp2 HG01891.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0050a0001c0001t0001g0066a0001c0001t0001g0124others(7): Show | 10 | 368 | 0.0272 | 18 | c.545 others(35): Show |
NFU1 | ENSG00000169599.13 | transcript | ENST00000410022.7 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
NFU1_chr2_69391126_69442435 | 69424198 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 368 | 0.0027 | 18 | c.167 others(33): Show |
NFU1 | ENSG00000169599.13 | transcript | ENST00000410022.7 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
NFX1_chr9_33285516_33376157 | 33289861 | T | TCCCCACC others(11): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0030 | 2 | 300 | 0.0067 | 18 | c.-71 others(27): Show |
NFX1 | ENSG00000086102.19 | transcript | ENST00000379540.8 | protein_coding | 654 | chr9 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269810 | C | CCCCCCCC others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 366 | 0.0027 | 18 | c.90- others(31): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232896620 | T | TTGAGGGT others(11): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0155 | 1 | 362 | 0.0028 | 18 | c.829 others(35): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232896652 | T | TGGGGTGG others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01993.hp1 NA18957.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0053a0001c0001t0013g0054a0001c0001t0013g0055others(2): Show | 5 | 362 | 0.0138 | 18 | c.829 others(35): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232896668 | G | GTGGGGGT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0002g0001others(117): Show | 121 | 362 | 0.3343 | 18 | c.829 others(35): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232896670 | G | GGGGGTGA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0008 | a0001c0001t0026a0001c0004t0004a0001c0004t0017others(3): Show | a0001c0001t0026g0261a0001c0004t0004g0032a0001c0004t0004g0033others(40): Show | 43 | 362 | 0.1188 | 18 | c.829 others(35): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232896700 | A | AGGGATGG others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0116 | 1 | 362 | 0.0028 | 18 | c.829 others(35): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232896737 | A | AGGGTGAG others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02735.hp2 NA20805.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0312a0001c0002t0003g0313a0001c0002t0003g0314 | 3 | 362 | 0.0083 | 18 | c.829 others(35): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232944726 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02155.hp1 HG03041.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0008a0002c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0264a0001c0001t0002g0265a0001c0001t0002g0272others(8): Show | 11 | 362 | 0.0304 | 18 | c.384 others(37): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232948147 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 362 | 0.0028 | 18 | c.384 others(37): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232968093 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02293.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0023others(3): Show | a0001c0001t0001g0094a0001c0001t0016g0238a0001c0001t0023g0011others(3): Show | 6 | 362 | 0.0166 | 18 | c.383 others(35): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995212 | A | ATATGCAC others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG02080.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0007a0001c0004t0004a0001c0005t0006others(1): Show | a0001c0001t0007g0092a0001c0004t0004g0090a0001c0005t0006g0105others(1): Show | 4 | 362 | 0.0111 | 18 | c.-75 others(37): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995254 | A | ACATGTAC others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005a0001c0011 | a0001c0003t0005a0001c0005t0001a0001c0011t0001 | a0001c0003t0005g0286a0001c0005t0001g0285a0001c0011t0001g0089others(1): Show | 4 | 362 | 0.0111 | 18 | c.-75 others(37): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995296 | A | ATATGCAC others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0025a0001c0002t0021a0001c0004t0004others(2): Show | a0001c0001t0025g0008a0001c0002t0021g0009a0001c0004t0004g0331others(2): Show | 5 | 362 | 0.0138 | 18 | c.-75 others(37): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995457 | G | GTATACTG others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0009a0001c0005t0001 | a0001c0002t0009g0116a0001c0005t0001g0050 | 2 | 362 | 0.0055 | 18 | c.-75 others(37): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995572 | A | ATATACAG others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03516.hp1 HG03540.hp2 |
a0001a0002 | a0001c0013a0002c0006a0002c0010 | a0001c0013t0001a0002c0006t0008a0002c0010t0003 | a0001c0013t0001g0027a0002c0006t0008g0342a0002c0010t0003g0292 | 3 | 362 | 0.0083 | 18 | c.-75 others(37): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995572 | A | ATATATAC others(11): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0031 | 1 | 362 | 0.0028 | 18 | c.-75 others(37): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar |