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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB5A_chr3_19942097_19990175 | 19952657 | GAGCATCA others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG03579.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0228a0001c0004t0002g0229 | 2 | 348 | 0.0058 | -10 | c.163 others(27): Show |
RAB5A | ENSG00000144566.11 | transcript | ENST00000273047.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB5A_chr3_19942097_19990175 | 19969035 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0005a0001c0001t0003g0008a0001c0001t0003g0014others(64): Show | 75 | 348 | 0.2155 | -10 | c.164 others(27): Show |
RAB5A | ENSG00000144566.11 | transcript | ENST00000273047.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB5B_chr12_55969078_56001683 | 55970288 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0019 | 1 | 382 | 0.0026 | -10 | c.-39 others(21): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 3789 | chr12 | TogoVar | ||||||
RAB5B_chr12_55969078_56001683 | 55975790 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0161 | 1 | 382 | 0.0026 | -10 | c.-93 others(27): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB5B_chr12_55969078_56001683 | 55993914 | AAGATGTC others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0009 | 1 | 382 | 0.0026 | -10 | c.*17 others(21): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 6/6 | 1703 | chr12 | TogoVar | |||||
RAB5B_chr12_55969078_56001683 | 56000553 | AGCCGACT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0079a0001c0001t0080 | a0001c0001t0079g0100a0001c0001t0080g0101 | 2 | 382 | 0.0052 | -10 | c.*83 others(21): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 3871 | chr12 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42123695 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 306 | 0.0033 | -10 | c.*20 others(21): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1283 | chr17 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42126859 | TGGAGGTG others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0251a0001c0001t0001g0252 | 5 | 306 | 0.0163 | -10 | c.442 others(23): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 4/5 | chr17 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42140509 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 306 | 0.0033 | -10 | c.-88 others(27): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02027.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0174a0001c0001t0001g0197others(5): Show | 8 | 306 | 0.0261 | -10 | c.-89 others(27): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42147060 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 HG03098.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004a0001c0003t0008 | a0001c0003t0001g0008a0001c0003t0001g0232a0001c0003t0001g0235others(6): Show | 11 | 306 | 0.0360 | -10 | c.-89 others(27): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42147140 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0164others(3): Show | 6 | 306 | 0.0196 | -10 | c.-89 others(27): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42153868 | TGTGATCT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 306 | 0.0033 | -10 | c.-89 others(27): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609193 | ACGCACAC others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG03471.hp2 NA18952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0093a0001c0001t0001g0112a0001c0001t0002g0029 | 4 | 398 | 0.0101 | -10 | c.219 others(25): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RAB6A_chr11_73670638_73766074 | 73685885 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0099a0001c0001t0001g0102a0001c0001t0001g0103others(118): Show | 121 | 354 | 0.3418 | -10 | c.496 others(27): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73689895 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18948.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080a0001c0001t0002g0084 | 2 | 354 | 0.0057 | -10 | c.496 others(29): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73692788 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp2 NA18906.hp2 NA19001.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0004 | a0001c0001t0001g0173a0001c0001t0004g0298a0001c0003t0004g0297 | 3 | 354 | 0.0085 | -10 | c.496 others(29): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73692959 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(116): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0099a0001c0001t0001g0102a0001c0001t0001g0103others(116): Show | 119 | 354 | 0.3362 | -10 | c.496 others(29): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73722303 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0298 | 1 | 354 | 0.0028 | -10 | c.130 others(27): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73722337 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 354 | 0.0028 | -10 | c.130 others(27): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73722339 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02809.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0328a0001c0001t0002g0329a0001c0001t0002g0330 | 3 | 354 | 0.0085 | -10 | c.130 others(27): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73731684 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG04228.hp1 NA18953.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0021 | a0001c0001t0002g0316a0001c0001t0005g0307a0001c0001t0005g0314others(2): Show | 5 | 354 | 0.0141 | -10 | c.71- others(23): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73731723 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00544.hp1 NA18983.hp1 NA18985.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260a0001c0001t0002g0272a0001c0001t0002g0282others(1): Show | 4 | 354 | 0.0113 | -10 | c.71- others(23): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73731725 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00609.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0004 | a0001c0001t0002g0064a0001c0001t0002g0066a0001c0001t0002g0067others(17): Show | 20 | 354 | 0.0565 | -10 | c.71- others(23): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73741835 | AATTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 354 | 0.0028 | -10 | c.71- others(27): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73744511 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 354 | 0.0028 | -10 | c.71- others(27): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73757098 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 354 | 0.0028 | -10 | c.70+ others(25): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73762115 | GAAAAAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02809.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327a0001c0001t0002g0328a0001c0001t0002g0329others(1): Show | 4 | 354 | 0.0113 | -10 | c.-14 others(21): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1042 | chr11 | TogoVar | ||||||
RAB6B_chr3_133819235_133900882 | 133835472 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0067a0001c0001t0002g0069a0001c0001t0005g0100others(5): Show | 8 | 386 | 0.0207 | -10 | c.496 others(25): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
RAB6B_chr3_133819235_133900882 | 133889388 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01975.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(9): Show | a0001c0001t0001g0081a0001c0001t0001g0129a0001c0001t0001g0219others(16): Show | 20 | 386 | 0.0518 | -10 | c.70+ others(25): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128734454 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00738.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0065others(29): Show | 34 | 314 | 0.1083 | -10 | c.-9+ others(25): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB7A_chr3_128721183_128819798 | 128747755 | ATTTTGTT others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305a0001c0001t0001g0306a0001c0001t0001g0307others(1): Show | 4 | 314 | 0.0127 | -10 | c.-9+ others(27): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB7A_chr3_128721183_128819798 | 128763208 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 314 | 0.0032 | -10 | c.-8- others(27): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB7A_chr3_128721183_128819798 | 128764368 | CACAACTT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 314 | 0.0032 | -10 | c.-8- others(27): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128776945 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02622.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0002 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 11 | 314 | 0.0350 | -10 | c.-8- others(27): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB7A_chr3_128721183_128819798 | 128809936 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 314 | 0.0032 | -10 | c.528 others(27): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RAB7B_chr1_205971740_206008395 | 205974364 | GCACACCC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(70): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0002g0004a0001c0001t0002g0010a0001c0001t0002g0012others(62): Show | 73 | 330 | 0.2212 | -10 | c.*44 others(21): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 2375 | chr1 | TogoVar | ||||||
RAB8B_chr15_63184606_63272776 | 63219004 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(91): Show | 109 | 372 | 0.2930 | -10 | c.125 others(29): Show |
RAB8B | ENSG00000166128.13 | transcript | ENST00000321437.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RAB9B_chrX_103817327_103837257 | 103820973 | CACACACA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01069.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(10): Show | 54 | 331 | 0.1631 | -10 | c.*41 others(21): Show |
RAB9B | ENSG00000123570.4 | transcript | ENST00000243298.3 | protein_coding | 1353 | chrX | TogoVar | ||||||
RABAC1_chr19_41951683_41964321 | 41961214 | ATTTCCTC others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 368 | 0.0027 | -10 | c.-19 others(21): Show |
RABAC1 | ENSG00000105404.11 | transcript | ENST00000222008.11 | protein_coding | 1894 | chr19 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5314234 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0339 | 1 | 352 | 0.0028 | -10 | c.163 others(27): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RABEP1_chr17_5277284_5391340 | 5329019 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0031 | 1 | 352 | 0.0028 | -10 | c.164 others(27): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RABEP1_chr17_5277284_5391340 | 5373693 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01928.hp1 HG01952.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0029a0001c0002t0004others(5): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(19): Show | 22 | 352 | 0.0625 | -10 | c.202 others(27): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RABEP2_chr16_28899421_28930238 | 28929845 | GATATATA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 366 | 0.0027 | -10 | c.-46 others(21): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4608 | chr16 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28929887 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 366 | 0.0027 | -10 | c.-47 others(21): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4650 | chr16 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174162777 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0268 | 1 | 272 | 0.0037 | -10 | c.-34 others(27): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174174195 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01081.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0137a0001c0001t0002g0145a0001c0001t0005g0001others(23): Show | 26 | 272 | 0.0956 | -10 | c.-34 others(29): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174179544 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02109.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0002g0117a0001c0001t0002g0118a0001c0001t0002g0132others(16): Show | 19 | 272 | 0.0699 | -10 | c.-34 others(29): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174195712 | CTTTTCTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0139 | 1 | 272 | 0.0037 | -10 | c.-33 others(29): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174280048 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0157a0001c0001t0017g0158 | 2 | 272 | 0.0074 | -10 | c.132 others(29): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |