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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NET1_chr10_5407557_5464056 | 5419303 | CTTGGTTG others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG03491.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0032a0001c0001t0002g0232a0001c0001t0002g0297others(8): Show | 11 | 380 | 0.0290 | -8 | c.128 others(25): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NET1_chr10_5407557_5464056 | 5428038 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(203): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(182): Show | 206 | 380 | 0.5421 | -8 | c.196 others(25): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NET1_chr10_5407557_5464056 | 5435526 | TAGATAGA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0072others(10): Show | 14 | 380 | 0.0368 | -8 | c.255 others(25): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NET1_chr10_5407557_5464056 | 5436184 | TGTTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01256.hp2 others(13): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0054others(9): Show | 16 | 380 | 0.0421 | -8 | c.255 others(25): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
NET1_chr10_5407557_5464056 | 5436217 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02273.hp2 HG02293.hp1 NA18989.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0198a0001c0001t0003g0011a0001c0001t0003g0012others(3): Show | 8 | 380 | 0.0211 | -8 | c.255 others(25): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
NET1_chr10_5407557_5464056 | 5436246 | ATATTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp1 others(51): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0022a0001c0003t0001others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0019others(44): Show | 54 | 380 | 0.1421 | -8 | c.255 others(25): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NET1_chr10_5407557_5464056 | 5459974 | TTTTTCTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp1 others(16): Show |
a0002 | a0002c0002a0002c0014 | a0002c0002t0005a0002c0014t0015 | a0002c0002t0005g0018a0002c0002t0005g0234a0002c0002t0005g0235others(15): Show | 19 | 380 | 0.0500 | -8 | c.*29 others(19): Show |
NET1 | ENSG00000173848.19 | transcript | ENST00000355029.9 | protein_coding | 919 | chr10 | TogoVar | ||||||
NETO1_chr18_72738756_72872987 | 72766220 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG03041.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0031a0001c0001t0005g0214a0001c0001t0005g0297 | 3 | 348 | 0.0086 | -8 | c.869 others(27): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
NETO1_chr18_72738756_72872987 | 72772825 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01099.hp1 HG01993.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0060a0001c0001t0001g0256a0001c0001t0002g0094others(11): Show | 15 | 348 | 0.0431 | -8 | c.868 others(27): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
NETO1_chr18_72738756_72872987 | 72807715 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0047a0001c0001t0001g0086a0001c0001t0001g0311others(97): Show | 101 | 348 | 0.2902 | -8 | c.470 others(27): Show |
NETO1 | ENSG00000166342.19 | transcript | ENST00000327305.11 | protein_coding | 4/10 | chr18 | TogoVar | ||||||
NETO2_chr16_47072703_47148945 | 47094408 | TTTATTTA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02559.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0019a0002c0002t0006g0020a0002c0002t0006g0021 | 3 | 168 | 0.0179 | -8 | c.884 others(25): Show |
NETO2 | ENSG00000171208.10 | transcript | ENST00000562435.6 | protein_coding | 7/8 | chr16 | TogoVar | ||||||
NEU3_chr11_74983933_75015907 | 74987890 | TTTTTTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(10): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0009others(38): Show | 103 | 394 | 0.2614 | -8 | c.-11 others(19): Show |
NEU3 | ENSG00000162139.10 | transcript | ENST00000294064.9 | protein_coding | 1042 | chr11 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807603 | ACCTTCCC others(1): Show |
A | upstream_gene_variant | MODIFIER | NA18747.hp2 NA19063.hp2 NA20905.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0002a0001c0004t0001g0005a0001c0004t0001g0016 | 3 | 319 | 0.0094 | -8 | c.-16 others(19): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1589 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807646 | ACCCTCCC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp1 NA19002.hp1 NA19063.hp1 |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0002 | a0001c0001t0001g0012a0001c0004t0001g0113a0002c0003t0002g0013 | 3 | 319 | 0.0094 | -8 | c.-16 others(19): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1546 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807884 | ACCTTCCC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02572.hp2 HG02738.hp2 others(3): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0158a0001c0002t0001g0136a0001c0004t0001g0067others(3): Show | 6 | 319 | 0.0188 | -8 | c.-13 others(19): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1308 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807927 | ACCCTCCC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0021a0001c0001t0001g0158others(8): Show | 12 | 319 | 0.0376 | -8 | c.-13 others(19): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1265 | chr2 | TogoVar | ||||||
NEURL1_chr10_103488705_103597546 | 103503959 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00733.hp1 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0052a0001c0001t0001g0069others(67): Show | 71 | 312 | 0.2276 | -8 | c.85+ others(23): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NEUROD6_chr7_31332465_31345726 | 31334249 | GCTTTCTT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG02132.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 17 | 414 | 0.0411 | -8 | c.*39 others(19): Show |
NEUROD6 | ENSG00000164600.7 | transcript | ENST00000297142.4 | protein_coding | 3215 | chr7 | TogoVar | ||||||
NEUROD6_chr7_31332465_31345726 | 31339751 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0002a0001c0001t0003g0009a0001c0001t0004g0010others(1): Show | 90 | 414 | 0.2174 | -8 | c.-21 others(23): Show |
NEUROD6 | ENSG00000164600.7 | transcript | ENST00000297142.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NEUROD6_chr7_31332465_31345726 | 31343921 | TTTCCTTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00735.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(5): Show | 77 | 414 | 0.1860 | -8 | c.-33 others(19): Show |
NEUROD6 | ENSG00000164600.7 | transcript | ENST00000297142.4 | protein_coding | 3196 | chr7 | TogoVar | ||||||
NEUROD6_chr7_31332465_31345726 | 31343992 | CCTGTCTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG02135.hp2 HG02683.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0002g0002 | 17 | 414 | 0.0411 | -8 | c.-34 others(19): Show |
NEUROD6 | ENSG00000164600.7 | transcript | ENST00000297142.4 | protein_coding | 3267 | chr7 | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74760841 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0127a0001c0001t0002g0128a0001c0001t0002g0129others(43): Show | 46 | 224 | 0.2054 | -8 | c.-47 others(27): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74761952 | ATTTCTTT others(1): Show |
A | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 224 | 0.0045 | -8 | c.-47 others(27): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74823697 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02074.hp1 HG02630.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0034 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0063others(3): Show | 6 | 224 | 0.0268 | -8 | c.-47 others(27): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74874794 | TGTCTGTT others(1): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0006 | a0006c0006 | a0006c0006t0034 | a0006c0006t0034g0118 | 1 | 224 | 0.0045 | -8 | c.-48 others(27): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74889952 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01884.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0004 | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(6): Show | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205others(14): Show | 17 | 224 | 0.0759 | -8 | c.-48 others(27): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74903325 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0109a0001c0001t0001g0194a0001c0001t0001g0195others(4): Show | 7 | 224 | 0.0313 | -8 | c.-48 others(27): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74903880 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0218a0001c0001t0002g0183a0001c0001t0002g0184others(1): Show | 4 | 224 | 0.0179 | -8 | c.-48 others(27): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXMIF_chrX_74727856_74930452 | 74922337 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02647.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0005a0006c0006t0034 | a0001c0001t0005g0119a0001c0001t0005g0120a0001c0001t0005g0121others(3): Show | 6 | 224 | 0.0268 | -8 | c.-48 others(25): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
NEXN_chr1_77883624_77948895 | 77886385 | CAAATAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp2 HG02717.hp1 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0115a0001c0001t0001g0133a0001c0001t0001g0210others(2): Show | 5 | 268 | 0.0187 | -8 | c.-24 others(19): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 2238 | chr1 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31108262 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(83): Show |
a0001a0003a0006others(1): Show | a0001c0002a0001c0005a0001c0010others(6): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0014others(12): Show | a0001c0002t0002g0153a0001c0002t0002g0155a0001c0002t0002g0156others(83): Show | 86 | 252 | 0.3413 | -8 | c.60+ others(25): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 1/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31146409 | GTCCATCC others(1): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01891.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0065a0001c0001t0003g0015a0001c0001t0003g0141others(8): Show | 11 | 252 | 0.0437 | -8 | c.61- others(23): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 1/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31172331 | GTCTGTCT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(103): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0004others(20): Show | a0001c0001t0003g0099a0001c0002t0002g0153a0001c0002t0002g0155others(103): Show | 106 | 252 | 0.4206 | -8 | c.586 others(25): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 5/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31263031 | ATAGATAG others(1): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01433.hp1 HG01891.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0118others(18): Show | 21 | 252 | 0.0833 | -8 | c.472 others(27): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 35/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31287542 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(71): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0001c0024others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(7): Show | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0020others(71): Show | 74 | 252 | 0.2937 | -8 | c.483 others(29): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31291005 | GAAATAAA others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01069.hp1 others(53): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(13): Show | a0001c0001t0003g0015a0001c0001t0003g0024a0001c0001t0003g0028others(53): Show | 56 | 252 | 0.2222 | -8 | c.483 others(29): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31313722 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(67): Show |
a0001a0003a0006 | a0001c0002a0001c0011a0001c0015others(3): Show | a0001c0002t0002a0001c0002t0024a0001c0002t0028others(7): Show | a0001c0002t0002g0155a0001c0002t0002g0156a0001c0002t0002g0157others(67): Show | 70 | 252 | 0.2778 | -8 | c.483 others(29): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31322094 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(22): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0014others(2): Show | a0001c0001t0001g0134a0001c0002t0002g0171a0001c0002t0002g0172others(22): Show | 25 | 252 | 0.0992 | -8 | c.483 others(27): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31322501 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(56): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0011others(3): Show | a0001c0002t0002a0001c0002t0014a0001c0002t0024others(8): Show | a0001c0002t0002g0153a0001c0002t0002g0156a0001c0002t0002g0157others(56): Show | 59 | 252 | 0.2341 | -8 | c.483 others(27): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 36/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF1_chr17_31089977_31382675 | 31334204 | GTGTGAAC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(76): Show |
a0001a0003a0006 | a0001c0002a0001c0004a0001c0011others(5): Show | a0001c0002t0002a0001c0002t0014a0001c0002t0024others(11): Show | a0001c0002t0002g0153a0001c0002t0002g0155a0001c0002t0002g0156others(76): Show | 79 | 252 | 0.3135 | -8 | c.581 others(25): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 39/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NF2_chr22_29598633_29703598 | 29624799 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00609.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0020others(61): Show | 65 | 344 | 0.1890 | -8 | c.115 others(27): Show |
NF2 | ENSG00000186575.19 | transcript | ENST00000338641.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NF2_chr22_29598633_29703598 | 29628140 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0059a0001c0001t0060 | a0001c0001t0006g0149a0001c0001t0006g0239a0001c0001t0006g0240others(12): Show | 15 | 344 | 0.0436 | -8 | c.115 others(25): Show |
NF2 | ENSG00000186575.19 | transcript | ENST00000338641.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NFAM1_chr22_42375407_42437403 | 42419989 | GGTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(165): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0093others(156): Show | 168 | 384 | 0.4375 | -8 | c.122 others(25): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
NFAM1_chr22_42375407_42437403 | 42431782 | CTCCCCCC others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02630.hp2 HG02896.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0005a0001c0001t0017a0004c0007t0018 | a0001c0001t0005g0360a0001c0001t0005g0361a0001c0001t0017g0363others(3): Show | 6 | 384 | 0.0156 | -8 | c.121 others(23): Show |
NFAM1 | ENSG00000235568.7 | transcript | ENST00000329021.10 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
NFASC_chr1_204823652_205027822 | 204839368 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03471.hp1 NA20805.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0050a0001c0004t0001a0001c0004t0005 | a0001c0002t0050g0099a0001c0004t0001g0142a0001c0004t0005g0153 | 3 | 226 | 0.0133 | -8 | c.-20 others(29): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NFASC_chr1_204823652_205027822 | 204843587 | TCTTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp2 HG02717.hp2 others(2): Show |
a0002a0004 | a0002c0003a0004c0011a0004c0020 | a0002c0003t0012a0004c0011t0010a0004c0011t0017others(1): Show | a0002c0003t0012g0222a0004c0011t0010g0014a0004c0011t0017g0018others(2): Show | 5 | 226 | 0.0221 | -8 | c.-20 others(29): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NFASC_chr1_204823652_205027822 | 204843622 | TCCTTCCT others(1): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG02004.hp2 others(5): Show |
a0001a0002a0010 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0002a0001c0004t0002a0001c0010t0004others(5): Show | a0001c0002t0002g0140a0001c0004t0002g0204a0001c0010t0004g0194others(5): Show | 8 | 226 | 0.0354 | -8 | c.-20 others(29): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NFASC_chr1_204823652_205027822 | 204867409 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01123.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0043others(17): Show | a0001c0001t0001g0079a0001c0001t0001g0086a0001c0001t0009g0029others(21): Show | 24 | 226 | 0.1062 | -8 | c.-20 others(29): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NFASC_chr1_204823652_205027822 | 204876996 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG03225.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0015a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0049others(2): Show | a0001c0001t0001g0163a0001c0001t0002g0210a0001c0015t0049g0119others(2): Show | 6 | 226 | 0.0266 | -8 | c.-19 others(29): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NFASC_chr1_204823652_205027822 | 204877052 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03139.hp1 |
a0001a0002 | a0001c0015a0002c0006 | a0001c0015t0005a0002c0006t0003 | a0001c0015t0005g0114a0002c0006t0003g0128 | 2 | 226 | 0.0089 | -8 | c.-19 others(29): Show |
NFASC | ENSG00000163531.17 | transcript | ENST00000339876.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |