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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NEK4_chr3_52703444_52775940 | 52752917 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19057.hp1 NA19068.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0192a0002c0002t0002g0240 | 2 | 318 | 0.0063 | 20 | c.964 others(35): Show |
NEK4 | ENSG00000114904.13 | transcript | ENST00000233027.10 | protein_coding | 6/15 | chr3 | TogoVar | ||||||
NEK6_chr9_124252949_124358307 | 124340133 | T | TAAAGACC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(359): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(339): Show | 362 | 368 | 0.9837 | 20 | c.717 others(35): Show |
NEK6 | ENSG00000119408.17 | transcript | ENST00000320246.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20721181 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0075 | 1 | 88 | 0.0114 | 20 | c.184 others(39): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20772613 | T | TTTCATTC others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 NA20300.hp1 |
a0002a0004 | a0002c0002a0004c0013 | a0002c0002t0001a0004c0013t0001 | a0002c0002t0001g0006a0004c0013t0001g0005 | 2 | 88 | 0.0227 | 20 | c.185 others(39): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20915699 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0026 | 1 | 88 | 0.0114 | 20 | c.604 others(37): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 5/19 | chr11 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 20915700 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG04204.hp2 HG04228.hp1 others(1): Show |
a0002a0004 | a0002c0002a0002c0003a0004c0013 | a0002c0002t0001a0002c0003t0001a0004c0013t0001 | a0002c0002t0001g0029a0002c0002t0001g0053a0002c0003t0001g0086others(1): Show | 4 | 88 | 0.0455 | 20 | c.604 others(37): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20915717 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02922.hp2 HG04115.hp1 |
a0001 | a0001c0004a0001c0005a0001c0006 | a0001c0004t0001a0001c0005t0001a0001c0006t0001 | a0001c0004t0001g0062a0001c0005t0001g0025a0001c0006t0001g0011 | 3 | 88 | 0.0341 | 20 | c.604 others(37): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20915717 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0013 | 1 | 88 | 0.0114 | 20 | c.604 others(37): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20915717 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 88 | 0.0114 | 20 | c.604 others(37): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20968356 | A | AAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 88 | 0.0114 | 20 | c.130 others(39): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20970053 | G | GTCCGTCC others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0043 | 1 | 88 | 0.0114 | 20 | c.130 others(39): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 20970053 | G | GTCCGTCC others(13): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0019 | 1 | 88 | 0.0114 | 20 | c.130 others(39): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 21264071 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01884.hp2 HG02055.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(7): Show | a0001c0001t0001g0054a0001c0004t0001g0080a0001c0004t0001g0087others(9): Show | 12 | 88 | 0.1364 | 20 | c.154 others(41): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 21329242 | T | TGACAGTT others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0069 | 1 | 88 | 0.0114 | 20 | c.155 others(41): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL2_chr12_44503278_44881315 | 44521529 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 158 | 0.0063 | 20 | c.217 others(37): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 18/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44528097 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0145a0001c0002t0007g0022 | 2 | 158 | 0.0127 | 20 | c.180 others(39): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 16/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44540781 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 158 | 0.0063 | 20 | c.166 others(39): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44566566 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 158 | 0.0063 | 20 | c.166 others(41): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44587284 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0075a0001c0001t0003g0136 | 2 | 158 | 0.0127 | 20 | c.166 others(41): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44598854 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 | 1 | 158 | 0.0063 | 20 | c.166 others(39): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44639822 | A | ACTTCCAT others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0079 | 1 | 158 | 0.0063 | 20 | c.144 others(41): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44644584 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 158 | 0.0063 | 20 | c.144 others(41): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44644586 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 158 | 0.0063 | 20 | c.144 others(41): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44644588 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 158 | 0.0063 | 20 | c.144 others(41): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44842105 | G | GAGAGAGG others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 158 | 0.0063 | 20 | c.185 others(39): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44842109 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001a0001c0001t0009g0002 | 2 | 158 | 0.0127 | 20 | c.185 others(39): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44842109 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03017.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053a0001c0001t0001g0110a0001c0001t0001g0112others(1): Show | 4 | 158 | 0.0253 | 20 | c.185 others(39): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44842109 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02055.hp2 HG02451.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0063a0001c0001t0001g0117others(8): Show | 11 | 158 | 0.0696 | 20 | c.185 others(39): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44842109 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 158 | 0.0063 | 20 | c.185 others(39): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
NEMF_chr14_49777083_49857788 | 49806232 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01361.hp1 HG01496.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0004c0007t0002 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0058others(9): Show | 12 | 222 | 0.0541 | 20 | c.174 others(37): Show |
NEMF | ENSG00000165525.18 | transcript | ENST00000298310.10 | protein_coding | 18/32 | chr14 | TogoVar | ||||||
NEMF_chr14_49777083_49857788 | 49806232 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 222 | 0.0045 | 20 | c.174 others(36): Show |
NEMF | ENSG00000165525.18 | transcript | ENST00000298310.10 | protein_coding | 18/32 | chr14 | TogoVar | ||||||
NEO1_chr15_73047463_73310205 | 73122063 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0021 | a0001c0021t0003 | a0001c0021t0003g0044 | 1 | 324 | 0.0031 | 20 | c.449 others(35): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NEO1_chr15_73047463_73310205 | 73244954 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0319 | 1 | 324 | 0.0031 | 20 | c.160 others(37): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NEO1_chr15_73047463_73310205 | 73295125 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01069.hp1 others(12): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0017a0001c0001t0019others(1): Show | a0001c0001t0002g0126a0001c0001t0002g0131a0001c0001t0002g0134others(12): Show | 15 | 324 | 0.0463 | 20 | c.390 others(39): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NETO1_chr18_72738756_72872987 | 72751050 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03139.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0003g0031a0001c0001t0003g0296a0001c0001t0004g0145others(3): Show | 6 | 348 | 0.0172 | 20 | c.983 others(35): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 8/10 | chr18 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241808083 | A | ACCCTCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029 | 1 | 319 | 0.0031 | 20 | c.-11 others(31): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1109 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241812092 | C | CGCGGACC others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0063 | 1 | 319 | 0.0031 | 20 | c.-3- others(35): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0285 | 1 | 312 | 0.0032 | 20 | c.*62 others(31): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01928.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0001c0002t0013a0001c0002t0020others(1): Show | a0001c0002t0004g0071a0001c0002t0004g0127a0001c0002t0004g0209others(4): Show | 7 | 312 | 0.0224 | 20 | c.*62 others(31): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 NA19010.hp2 NA19056.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0013 | a0001c0002t0004g0206a0001c0002t0004g0237a0001c0002t0013g0283 | 3 | 312 | 0.0096 | 20 | c.*62 others(31): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0072 | 1 | 312 | 0.0032 | 20 | c.*62 others(31): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 NA19043.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0032 | a0001c0002t0006g0261a0001c0002t0006g0262a0001c0002t0032g0062 | 3 | 312 | 0.0096 | 20 | c.*62 others(31): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0270 | 1 | 312 | 0.0032 | 20 | c.*62 others(31): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596663 | A | ACACACTC others(13): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0113a0001c0001t0010g0271 | 2 | 312 | 0.0064 | 20 | c.*62 others(31): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4118 | chr10 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103596685 | T | TCTCTCTC others(13): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01071.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0046others(30): Show | 33 | 312 | 0.1058 | 20 | c.*63 others(31): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 4140 | chr10 | TogoVar | ||||||
NEURL3_chr2_96492646_96510357 | 96504877 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 NA19078.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0033a0002c0003t0001g0090 | 3 | 394 | 0.0076 | 20 | c.28+ others(33): Show |
NEURL3 | ENSG00000163121.10 | transcript | ENST00000451794.6 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
NEXN_chr1_77883624_77948895 | 77896170 | C | CAATAAAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(15): Show | 18 | 268 | 0.0672 | 20 | c.-53 others(37): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31226318 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG01168.hp2 NA18974.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0081a0001c0001t0001g0150 | 3 | 252 | 0.0119 | 20 | c.200 others(35): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31243184 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02080.hp2 HG02129.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0049a0001c0001t0001g0060a0001c0001t0001g0101others(13): Show | 16 | 252 | 0.0635 | 20 | c.397 others(39): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 29/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NFAM1_chr22_42375407_42437403 | 42379487 | T | TCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 NA19065.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0012a0002c0004t0023 | a0001c0001t0002g0322a0001c0002t0012g0011a0002c0004t0023g0081 | 3 | 384 | 0.0078 | 20 | c.*56 others(31): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 919 | chr22 | TogoVar |