view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB3GAP1_chr2_135047292_135175710 | 135112830 | TCTCTCAC others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0011a0004c0005t0025 | a0001c0001t0002g0247 a0004c0005t0011g0219 a0004c0005t0011g0220 others(2): Show |
5 | 280 | 0.0179 | -8 | c.363 others(23): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135112834 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01358.hp2 HG01433.hp1 others(9): Show |
a0001a0006a0007others(1): Show | a0001c0001a0006c0013a0007c0011others(1): Show | a0001c0001t0005a0001c0001t0014a0006c0013t0005others(2): Show | a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 others(9): Show |
12 | 280 | 0.0429 | -8 | c.363 others(23): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP2_chr1_220143293_220277453 | 220214946 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02886.hp2 NA18522.hp1 others(1): Show |
a0003 | a0003c0003a0003c0016 | a0003c0003t0006a0003c0016t0006 | a0003c0003t0006g0038 a0003c0003t0006g0041 a0003c0003t0006g0042 others(1): Show |
4 | 378 | 0.0106 | -8 | c.181 others(23): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 2/34 | chr1 | TogoVar | |||||||
RAB3IP_chr12_69733860_69828199 | 69747325 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01070.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029a0001c0001t0054others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0118 others(52): Show |
61 | 402 | 0.1517 | -8 | c.-25 others(25): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RAB3IP_chr12_69733860_69828199 | 69817653 | TACACACA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0065 | a0001c0001t0021g0276 a0001c0001t0021g0307 a0001c0001t0021g0349 others(1): Show |
4 | 402 | 0.0100 | -8 | c.*22 others(19): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 11/11 | 2234 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB40A_chrX_103494130_103524489 | 103509313 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG04184.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0055 |
2 | 266 | 0.0075 | -8 | c.-71 others(25): Show |
RAB40A | ENSG00000172476.4 | transcript | ENST00000304236.2 | protein_coding | 2/2 | chrX | TogoVar | |||||||
RAB40A_chrX_103494130_103524489 | 103513247 | TGACAGCA others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 266 | 0.0038 | -8 | c.-71 others(25): Show |
RAB40A | ENSG00000172476.4 | transcript | ENST00000304236.2 | protein_coding | 2/2 | chrX | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82660685 | TGTACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 a0001c0001t0003g0096 a0001c0001t0003g0106 others(2): Show |
5 | 338 | 0.0148 | -8 | c.264 others(23): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 3/5 | chr17 | TogoVar | |||||||
RAB44_chr6_36692826_36738184 | 36696584 | TTTTCTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01243.hp2 HG01255.hp2 others(27): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(10): Show | a0001c0001t0001g0245 a0001c0001t0001g0290 a0001c0001t0002g0035 others(23): Show |
30 | 428 | 0.0701 | -8 | c.-13 others(19): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1241 | chr6 | TogoVar | |||||||
RAB44_chr6_36692826_36738184 | 36702293 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02615.hp2 others(1): Show |
a0001a0005 | a0001c0003a0005c0010 | a0001c0003t0001a0005c0010t0006 | a0001c0003t0001g0157 a0005c0010t0006g0044 a0005c0010t0006g0309 |
4 | 428 | 0.0094 | -8 | c.-12 others(25): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB44_chr6_36692826_36738184 | 36724139 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01070.hp1 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0004a0002c0005a0002c0009others(7): Show | a0001c0004t0004a0002c0005t0001a0002c0005t0005others(14): Show | a0001c0004t0004g0270 a0002c0005t0001g0002 a0002c0005t0001g0031 others(34): Show |
53 | 428 | 0.1238 | -8 | c.259 others(27): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB44_chr6_36692826_36738184 | 36734313 | CAGAGAGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02735.hp2 HG03239.hp2 others(9): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0005 a0001c0003t0001g0176 a0001c0003t0001g0199 others(7): Show |
12 | 428 | 0.0280 | -8 | c.*22 others(19): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1130 | chr6 | TogoVar | |||||||
RAB44_chr6_36692826_36738184 | 36734368 | AGAGAGAG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp1 HG02486.hp1 HG02647.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0001 | a0001c0001t0002g0027 a0001c0001t0002g0089 a0001c0001t0002g0158 others(1): Show |
5 | 428 | 0.0117 | -8 | c.*22 others(19): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1185 | chr6 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229281816 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0026 a0001c0001t0002g0227 a0001c0001t0002g0228 others(4): Show |
8 | 400 | 0.0200 | -8 | c.32- others(23): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB4A_chr1_229266111_229310894 | 229302257 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01168.hp1 HG01169.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0098 a0001c0001t0002g0013 others(5): Show |
11 | 400 | 0.0275 | -8 | c.542 others(23): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB4A_chr1_229266111_229310894 | 229302303 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01928.hp1 HG02027.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0085 a0001c0001t0001g0138 a0001c0001t0002g0032 others(10): Show |
15 | 400 | 0.0375 | -8 | c.542 others(23): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB4B_chr19_40773247_40801942 | 40781288 | GAATAAAT others(1): Show |
G | intron_variant | MODIFIER | HG02897.hp2 HG03098.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 others(1): Show |
4 | 384 | 0.0104 | -8 | c.212 others(23): Show |
RAB4B | ENSG00000167578.18 | transcript | ENST00000357052.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RAB4B_chr19_40773247_40801942 | 40783147 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02647.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0232 others(8): Show |
12 | 384 | 0.0313 | -8 | c.213 others(23): Show |
RAB4B | ENSG00000167578.18 | transcript | ENST00000357052.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42123695 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp1 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0015 others(16): Show |
23 | 306 | 0.0752 | -8 | c.*20 others(19): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1283 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42147144 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 HG03688.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 a0001c0002t0001g0151 a0001c0002t0001g0188 |
3 | 306 | 0.0098 | -8 | c.-89 others(25): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73692788 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00673.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0017others(2): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 others(52): Show |
55 | 354 | 0.1554 | -8 | c.496 others(27): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73705767 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 |
3 | 354 | 0.0085 | -8 | c.495 others(25): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73731725 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG02559.hp2 NA18977.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0073 a0001c0001t0002g0234 a0001c0001t0002g0270 others(2): Show |
5 | 354 | 0.0141 | -8 | c.71- others(21): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73731727 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG03831.hp1 NA18906.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0072 others(10): Show |
13 | 354 | 0.0367 | -8 | c.71- others(21): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6B_chr3_133819235_133900882 | 133889388 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01358.hp2 HG01361.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0015a0001c0001t0020others(4): Show | a0001c0001t0005g0082 a0001c0001t0015g0001 a0001c0001t0020g0310 others(5): Show |
9 | 386 | 0.0233 | -8 | c.70+ others(23): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128776945 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00735.hp1 others(57): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(55): Show |
60 | 314 | 0.1911 | -8 | c.-8- others(25): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128792817 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 others(6): Show |
9 | 314 | 0.0287 | -8 | c.-8- others(23): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128805117 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 others(4): Show |
7 | 314 | 0.0223 | -8 | c.181 others(25): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128816988 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 others(4): Show |
7 | 314 | 0.0223 | -8 | c.*35 others(19): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 2191 | chr3 | TogoVar | |||||||
RAB7B_chr1_205971740_206008395 | 205996143 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01891.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 others(31): Show |
35 | 330 | 0.1061 | -8 | c.-16 others(25): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RAB8A_chr19_16106889_16139234 | 16131852 | ATGGTTGG others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(179): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0042 others(94): Show |
182 | 390 | 0.4667 | -8 | c.532 others(23): Show |
RAB8A | ENSG00000167461.12 | transcript | ENST00000300935.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RAB8B_chr15_63184606_63272776 | 63227432 | GTTAGTAA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(4): Show | a0001c0001t0002g0289 a0001c0001t0012g0025 a0001c0001t0012g0329 others(79): Show |
90 | 372 | 0.2419 | -8 | c.125 others(27): Show |
RAB8B | ENSG00000166128.13 | transcript | ENST00000321437.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RAB9A_chrX_13684128_13715504 | 13698190 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG01891.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0030 others(13): Show |
22 | 334 | 0.0659 | -8 | c.-11 others(27): Show |
RAB9A | ENSG00000123595.8 | transcript | ENST00000464506.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RAB9B_chrX_103817327_103837257 | 103820975 | CACACACA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01106.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(13): Show |
38 | 331 | 0.1148 | -8 | c.*41 others(19): Show |
RAB9B | ENSG00000123570.4 | transcript | ENST00000243298.3 | protein_coding | 1351 | chrX | TogoVar | |||||||
RABEP1_chr17_5277284_5391340 | 5317626 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(97): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0025others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 others(97): Show |
100 | 352 | 0.2841 | -8 | c.163 others(25): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5347410 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00673.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 others(69): Show |
72 | 352 | 0.2046 | -8 | c.784 others(23): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5373693 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01081.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0025others(11): Show | a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0077 others(35): Show |
38 | 352 | 0.1080 | -8 | c.202 others(25): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28908999 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(294): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(222): Show |
297 | 366 | 0.8115 | -8 | c.109 others(25): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 7/12 | chr16 | TogoVar | |||||||
RABEP2_chr16_28899421_28930238 | 28929845 | GATATATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0229 a0001c0001t0002g0009 others(1): Show |
4 | 366 | 0.0109 | -8 | c.-46 others(19): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4608 | chr16 | TogoVar | |||||||
RABEPK_chr9_125195542_125239161 | 125196700 | TCTGGGTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(194): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0004others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(173): Show |
197 | 388 | 0.5077 | -8 | c.-42 others(19): Show |
RABEPK | ENSG00000136933.17 | transcript | ENST00000373538.8 | protein_coding | 3841 | chr9 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174162777 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 others(70): Show |
73 | 272 | 0.2684 | -8 | c.-34 others(25): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174162856 | TATGTATA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036a0001c0001t0039 | a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0044 others(5): Show |
8 | 272 | 0.0294 | -8 | c.-34 others(25): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174179544 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01257.hp2 HG01258.hp2 others(14): Show |
a0001a0008 | a0001c0001a0008c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0106 others(14): Show |
17 | 272 | 0.0625 | -8 | 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 | 174195574 | ATTCTTTC others(1): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02602.hp2 NA18992.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0240 a0001c0002t0003g0163 a0001c0002t0003g0165 others(2): Show |
5 | 272 | 0.0184 | -8 | c.-33 others(27): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174195612 | TCTTTCTT others(1): Show |
T | intron_variant | MODIFIER | HG03654.hp2 HG04199.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0035 | a0001c0001t0001g0006 a0001c0001t0009g0071 a0001c0001t0035g0070 |
3 | 272 | 0.0110 | -8 | c.-33 others(27): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174195667 | CCTTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02818.hp1 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0006a0002c0003t0015 | a0001c0001t0010g0203 a0002c0003t0006g0075 a0002c0003t0015g0085 |
3 | 272 | 0.0110 | -8 | c.-33 others(27): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174280048 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02818.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0027a0001c0001t0028others(3): Show | a0001c0001t0011g0160 a0001c0001t0011g0162 a0001c0001t0011g0214 others(9): Show |
12 | 272 | 0.0441 | -8 | c.132 others(27): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174318580 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01257.hp1 HG01261.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0048 others(4): Show |
7 | 272 | 0.0257 | -8 | c.146 others(29): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174327974 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG03688.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0100 a0001c0001t0008g0126 a0001c0001t0008g0127 |
3 | 272 | 0.0110 | -8 | c.146 others(29): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174327976 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG02083.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0018a0001c0001t0038others(1): Show | a0001c0001t0004g0223 a0001c0001t0004g0226 a0001c0001t0004g0228 others(14): Show |
17 | 272 | 0.0625 | -8 | c.146 others(29): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |