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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NEDD4L_chr18_58039226_58406539 | 58276691 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01496.hp2 others(21): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0015others(21): Show | 24 | 118 | 0.2034 | 9 | c.297 others(28): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58398216 | T | TATTGGTG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02976.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0031 | a0001c0001t0030g0055a0001c0001t0031g0082 | 2 | 118 | 0.0170 | 9 | c.*19 others(20): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 31/31 | 1959 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
NEGR1_chr1_71390943_72287539 | 71744342 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01993.hp1 HG03225.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0001g0024a0001c0001t0005g0027a0001c0001t0011g0031others(1): Show | 4 | 64 | 0.0625 | 9 | c.535 others(28): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 71942484 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01934.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0045a0001c0001t0007g0018others(3): Show | 6 | 64 | 0.0938 | 9 | c.177 others(26): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 72140224 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01071.hp2 HG01884.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0036a0001c0001t0004g0041others(3): Show | 6 | 64 | 0.0938 | 9 | c.176 others(30): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 72143896 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0043a0001c0002t0003g0044 | 2 | 64 | 0.0313 | 9 | c.176 others(30): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 72143930 | T | TATATAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0048a0001c0001t0001g0049others(3): Show | 6 | 64 | 0.0938 | 9 | c.176 others(30): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 72156941 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | NA20300.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0002 | a0001c0001t0025g0052a0001c0002t0002g0053 | 2 | 64 | 0.0313 | 9 | c.176 others(30): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 72248575 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01071.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0040a0001c0001t0001g0045a0001c0001t0001g0048others(8): Show | 11 | 64 | 0.1719 | 9 | c.176 others(28): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
NEK11_chr3_131021877_131355465 | 131037232 | T | TTTGGGTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(217): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0017t0001others(16): Show | a0001c0001t0001g0009a0001c0001t0001g0097a0001c0001t0001g0098others(217): Show | 220 | 292 | 0.7534 | 9 | c.170 others(26): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NEK11_chr3_131021877_131355465 | 131258145 | T | TGGACTCT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG02602.hp2 others(17): Show |
a0001a0002a0013 | a0001c0001a0002c0005a0013c0018 | a0001c0001t0001a0002c0005t0001a0013c0018t0001 | a0001c0001t0001g0161a0001c0001t0001g0208a0001c0001t0001g0209others(17): Show | 20 | 292 | 0.0685 | 9 | c.162 others(30): Show |
NEK11 | ENSG00000114670.14 | transcript | ENST00000383366.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NEK5_chr13_52028611_52134073 | 52089093 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(191): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(186): Show | 194 | 334 | 0.5808 | 9 | c.127 others(26): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 14/23 | chr13 | TogoVar | ||||||
NEK7_chr1_198151998_198327420 | 198252568 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02922.hp1 NA18947.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0043a0001c0001t0001g0060a0001c0001t0001g0095others(1): Show | 4 | 346 | 0.0116 | 9 | c.58- others(22): Show |
NEK7 | ENSG00000151414.15 | transcript | ENST00000367385.9 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
NELFCD_chr20_58976256_59000113 | 58998552 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG01255.hp2 HG01884.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0035others(7): Show | 32 | 438 | 0.0731 | 9 | c.*38 others(20): Show |
NELFCD | ENSG00000101158.15 | transcript | ENST00000652272.2 | protein_coding | 3440 | chr20 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 21032046 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0002g0076 | 2 | 88 | 0.0227 | 9 | c.130 others(30): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL1_chr11_20664586_21580686 | 21105862 | C | CTCCTCCC others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG01975.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(11): Show | a0001c0001t0001g0022a0001c0001t0001g0032a0001c0001t0001g0037others(15): Show | 18 | 88 | 0.2046 | 9 | c.130 others(28): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 12/19 | chr11 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 21105864 | C | CTTCCCCT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01169.hp2 HG01258.hp2 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(9): Show | a0001c0001t0001g0078a0001c0001t0008g0056a0001c0004t0001g0038others(14): Show | 17 | 88 | 0.1932 | 9 | c.130 others(28): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 12/19 | chr11 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 21232159 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG03225.hp2 HG04199.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0001 | a0001c0001t0001g0012a0001c0001t0001g0054a0002c0010t0001g0083 | 3 | 88 | 0.0341 | 9 | c.154 others(28): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 14/19 | chr11 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 21375885 | C | CAGTTTTT others(2): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04204.hp1 HG04228.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0006 | a0001c0001t0001g0054a0002c0002t0001g0010a0002c0003t0006g0066 | 3 | 88 | 0.0341 | 9 | c.164 others(28): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NELL2_chr12_44503278_44881315 | 44587284 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01258.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0149a0001c0001t0003g0135a0001c0001t0009g0001others(5): Show | 8 | 158 | 0.0506 | 9 | c.166 others(30): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 15/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44617691 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01261.hp2 HG01433.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0071a0001c0001t0001g0128a0001c0001t0002g0134others(8): Show | 11 | 158 | 0.0696 | 9 | c.144 others(28): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44656311 | G | GTTACTTA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0071a0001c0001t0001g0128a0001c0001t0002g0090others(23): Show | 26 | 158 | 0.1646 | 9 | c.144 others(28): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
NEMF_chr14_49777083_49857788 | 49806257 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02735.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0057a0001c0001t0001g0074others(2): Show | 5 | 222 | 0.0225 | 9 | c.174 others(26): Show |
NEMF | ENSG00000165525.18 | transcript | ENST00000298310.10 | protein_coding | 18/32 | chr14 | TogoVar | ||||||
NENF_chr1_212427920_212451379 | 212440251 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00733.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0019others(17): Show | 36 | 416 | 0.0865 | 9 | c.178 others(26): Show |
NENF | ENSG00000117691.10 | transcript | ENST00000366988.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NEO1_chr15_73047463_73310205 | 73171612 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02135.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0010 | a0001c0001t0003g0164a0001c0001t0003g0245a0001c0001t0003g0256others(2): Show | 5 | 324 | 0.0154 | 9 | c.101 others(28): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NEO1_chr15_73047463_73310205 | 73244954 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02683.hp2 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0002 | a0001c0002t0001g0089a0001c0002t0001g0091a0001c0002t0001g0092others(3): Show | 6 | 324 | 0.0185 | 9 | c.160 others(26): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NEO1_chr15_73047463_73310205 | 73279345 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG00741.hp1 others(51): Show |
a0001 | a0001c0002a0001c0004a0001c0018others(1): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0008others(5): Show | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0008others(51): Show | 54 | 324 | 0.1667 | 9 | c.326 others(28): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NET1_chr10_5407557_5464056 | 5419706 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0002g0345others(1): Show | 4 | 380 | 0.0105 | 9 | c.128 others(26): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NETO1_chr18_72738756_72872987 | 72741182 | T | TTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0018others(1): Show | a0001c0001t0005g0001a0001c0001t0005g0007a0001c0001t0005g0009others(20): Show | 24 | 348 | 0.0690 | 9 | c.*69 others(20): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 2573 | chr18 | TogoVar | ||||||
NETO1_chr18_72738756_72872987 | 72808419 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG02071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0036 | a0001c0001t0001g0015a0001c0001t0001g0196a0001c0001t0002g0110others(2): Show | 5 | 348 | 0.0144 | 9 | c.470 others(28): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 4/10 | chr18 | TogoVar | ||||||
NETO1_chr18_72738756_72872987 | 72841733 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01978.hp1 HG02145.hp1 others(5): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0221a0001c0001t0003g0227others(5): Show | 8 | 348 | 0.0230 | 9 | c.469 others(28): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 4/10 | chr18 | TogoVar | ||||||
NETO1_chr18_72738756_72872987 | 72846504 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01070.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0316others(5): Show | 9 | 348 | 0.0259 | 9 | c.469 others(28): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 4/10 | chr18 | TogoVar | ||||||
NETO1_chr18_72738756_72872987 | 72870699 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(274): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0018others(271): Show | 277 | 348 | 0.7960 | 9 | c.-34 others(20): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 2713 | chr18 | TogoVar | ||||||
NEURL1B_chr5_172636263_172696540 | 172667275 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0001c0001t0033a0001c0001t0046others(1): Show | a0001c0001t0014g0342a0001c0001t0014g0343a0001c0001t0033g0350others(3): Show | 6 | 392 | 0.0153 | 9 | c.32- others(24): Show |
NEURL1B | ENSG00000214357.9 | transcript | ENST00000369800.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NEURL1B_chr5_172636263_172696540 | 172675617 | G | GCTCCCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0281others(151): Show | 165 | 392 | 0.4209 | 9 | c.577 others(26): Show |
NEURL1B | ENSG00000214357.9 | transcript | ENST00000369800.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NEURL1_chr10_103488705_103597546 | 103501618 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp1 others(65): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0134a0001c0001t0001g0136a0001c0001t0001g0137others(64): Show | 68 | 312 | 0.2180 | 9 | c.85+ others(24): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NEURL4_chr17_7310628_7334335 | 7319726 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(65): Show |
a0001a0003a0010others(2): Show | a0001c0001a0003c0004a0003c0026others(4): Show | a0001c0001t0001a0003c0004t0001a0003c0026t0001others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0089a0001c0001t0001g0108others(16): Show | 68 | 408 | 0.1667 | 9 | c.352 others(26): Show |
NEURL4 | ENSG00000215041.10 | transcript | ENST00000399464.7 | protein_coding | 21/28 | chr17 | TogoVar | ||||||
NEUROD4_chr12_55014974_55035017 | 55025350 | T | TGTTCCAC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(190): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0038a0001c0001t0002g0002a0001c0001t0002g0004others(39): Show | 193 | 424 | 0.4552 | 9 | c.-9- others(24): Show |
NEUROD4 | ENSG00000123307.4 | transcript | ENST00000242994.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NEUROG3_chr10_69566698_69578422 | 69575788 | T | TTCCTCCT others(2): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 NA18947.hp2 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 444 | 0.0090 | 9 | c.-25 others(20): Show |
NEUROG3 | ENSG00000122859.5 | transcript | ENST00000242462.5 | protein_coding | 2367 | chr10 | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74744930 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 224 | 0.0045 | 9 | c.80- others(22): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 2/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74796182 | C | CATATATA others(2): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 224 | 0.0045 | 9 | c.-47 others(28): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74930228 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0001 | 1 | 224 | 0.0045 | 9 | c.-53 others(20): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 4777 | chrX | TogoVar | ||||||
NEXN_chr1_77883624_77948895 | 77934011 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG02738.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0029a0001c0001t0001g0039others(12): Show | 15 | 268 | 0.0560 | 9 | c.125 others(26): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31263120 | T | TAGATAGA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0017 | a0001c0003t0003g0007a0001c0003t0003g0008a0001c0003t0003g0009others(4): Show | 7 | 252 | 0.0278 | 9 | c.472 others(28): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 35/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31293178 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01516.hp1 others(3): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0002a0001c0018t0002 | a0001c0002t0002g0172a0001c0002t0002g0173a0001c0002t0002g0174others(3): Show | 6 | 252 | 0.0238 | 9 | c.483 others(30): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31365278 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0004a0001c0007a0001c0012 | a0001c0004t0006a0001c0004t0009a0001c0004t0021others(2): Show | a0001c0004t0006g0164a0001c0004t0006g0234a0001c0004t0009g0129others(4): Show | 7 | 252 | 0.0278 | 9 | c.837 others(28): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 57/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NFAM1_chr22_42375407_42437403 | 42398382 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02135.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0119a0001c0001t0002g0318a0001c0001t0002g0320others(4): Show | 7 | 384 | 0.0182 | 9 | c.565 others(24): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
NFAM1_chr22_42375407_42437403 | 42423112 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(163): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0002a0001c0001t0001g0158a0001c0001t0001g0200others(155): Show | 166 | 384 | 0.4323 | 9 | c.121 others(26): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
NFAM1_chr22_42375407_42437403 | 42427742 | A | ATACACAC others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02976.hp1 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0013a0002c0004t0023a0002c0004t0047others(1): Show | a0002c0004t0013g0082a0002c0004t0013g0241a0002c0004t0013g0242others(6): Show | 9 | 384 | 0.0234 | 9 | c.121 others(26): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
NFASC_chr1_204823652_205027822 | 204875073 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01978.hp2 HG02615.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0035others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0163a0001c0001t0002g0210a0001c0001t0004g0117others(5): Show | 8 | 226 | 0.0354 | 9 | c.-19 others(30): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |