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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
QSER1_chr11_32887811_32985270 | 32966501 | CTGTTAGT others(8): Show |
C | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 236 | 0.0042 | -15 | c.510 others(30): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
QTRT2_chr3_114051737_114093422 | 114083272 | TTGTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0020 | a0001c0001t0016g0324 a0001c0001t0020g0055 |
2 | 430 | 0.0047 | -15 | c.101 others(32): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135537608 | CTTATTTT others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02280.hp1 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(35): Show |
38 | 232 | 0.1638 | -15 | c.-25 others(34): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135600550 | ATCAGAAA others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
a0001a0006a0011 | a0001c0001a0006c0005a0011c0010 | a0001c0001t0001a0001c0001t0004a0006c0005t0001others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(30): Show |
33 | 232 | 0.1422 | -15 | c.-24 others(34): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135727442 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG02055.hp1 others(22): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0013others(1): Show | a0001c0001t0001a0002c0002t0001a0010c0013t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show |
25 | 232 | 0.1078 | -15 | c.*31 others(26): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2174 | chr2 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57270392 | CTTATTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(137): Show |
a0001a0003a0004others(4): Show | a0001c0002a0003c0007a0003c0011others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(10): Show | a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0009 others(137): Show |
140 | 336 | 0.4167 | -15 | c.134 others(32): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 14/23 | chr12 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57355462 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02071.hp2 HG02129.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0151 a0001c0001t0002g0147 a0001c0001t0002g0148 others(8): Show |
11 | 336 | 0.0327 | -15 | c.-36 others(34): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 892875 | GCCCCGAG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 | 1 | 432 | 0.0023 | -15 | c.*45 others(26): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3627 | chr19 | TogoVar | |||||||
R3HDML_chr20_44332043_44356238 | 44348482 | CTCCTTTC others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(147): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(60): Show |
150 | 434 | 0.3456 | -15 | c.630 others(32): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
R3HDML_chr20_44332043_44356238 | 44349146 | TAAATAAA others(8): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 434 | 0.0023 | -15 | c.630 others(32): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26140452 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp1 HG03017.hp2 NA18939.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0190 a0001c0001t0002g0126 a0001c0001t0003g0075 others(1): Show |
4 | 212 | 0.0189 | -15 | c.*54 others(26): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 2999 | chr2 | TogoVar | |||||||
RAB11B_chr19_8385360_8409434 | 8400099 | GGCGTGGG others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 428 | 0.0023 | -15 | c.236 others(28): Show |
RAB11B | ENSG00000185236.12 | transcript | ENST00000328024.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RAB11FIP1_chr8_37853618_37904497 | 37895244 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 264 | 0.0038 | -15 | c.371 others(32): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RAB11FIP4_chr17_31386675_31543211 | 31431568 | CGTGTGCT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0071 others(98): Show |
101 | 310 | 0.3258 | -15 | c.160 others(30): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445568 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0130 a0001c0003t0006g0221 |
2 | 310 | 0.0065 | -15 | c.336 others(34): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31450321 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01358.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0048others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0257 a0001c0001t0001g0274 others(7): Show |
10 | 310 | 0.0323 | -15 | c.336 others(34): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31474865 | CAAAACAA others(8): Show |
C | intron_variant | MODIFIER | HG02080.hp2 NA18990.hp1 NA19010.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009a0001c0002t0033 | a0001c0002t0004g0133 a0001c0002t0004g0186 a0001c0002t0009g0020 others(2): Show |
5 | 310 | 0.0161 | -15 | c.336 others(34): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0233 | 1 | 404 | 0.0025 | -15 | c.*91 others(24): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 916 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB14_chr9_121173133_121206869 | 121176375 | AATTAGCA others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 384 | 0.0026 | -15 | c.*50 others(26): Show |
RAB14 | ENSG00000119396.12 | transcript | ENST00000373840.9 | protein_coding | 1757 | chr9 | TogoVar | |||||||
RAB17_chr2_237569326_237595734 | 237582081 | TGGACTCC others(8): Show |
T | intron_variant | MODIFIER | HG02148.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0247 | 1 | 424 | 0.0024 | -15 | c.157 others(32): Show |
RAB17 | ENSG00000124839.13 | transcript | ENST00000264601.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB18_chr10_27499304_27547239 | 27545255 | ATGAAATT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 410 | 0.0024 | -15 | c.*72 others(26): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 3017 | chr10 | TogoVar | |||||||
RAB1B_chr11_66263639_66282492 | 66270233 | TTTGTTGT others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0069 others(36): Show |
97 | 426 | 0.2277 | -15 | c.15- others(30): Show |
RAB1B | ENSG00000174903.16 | transcript | ENST00000311481.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB22A_chr20_58304715_58372507 | 58312472 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02886.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0052 | a0001c0001t0035g0169 a0001c0001t0035g0171 a0001c0001t0052g0170 |
3 | 394 | 0.0076 | -15 | c.116 others(32): Show |
RAB22A | ENSG00000124209.4 | transcript | ENST00000244040.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60518596 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0353 | 1 | 358 | 0.0028 | -15 | c.46+ others(30): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 358 | 0.0028 | -15 | c.119 others(32): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60585282 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0002g0029 a0001c0001t0002g0080 a0001c0001t0002g0081 others(99): Show |
102 | 358 | 0.2849 | -15 | c.362 others(30): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60627220 | TCATTTTC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 358 | 0.0028 | -15 | c.*64 others(26): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 3577 | chr8 | TogoVar | |||||||
RAB2B_chr14_21454020_21481959 | 21454162 | AAAAAGAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02559.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0003g0085 a0001c0001t0005g0019 a0001c0001t0007g0218 others(3): Show |
9 | 412 | 0.0218 | -15 | c.*70 others(26): Show |
RAB2B | ENSG00000129472.15 | transcript | ENST00000397762.6 | protein_coding | 4857 | chr14 | TogoVar | |||||||
RAB2B_chr14_21454020_21481959 | 21457628 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0061 | 1 | 412 | 0.0024 | -15 | c.*35 others(26): Show |
RAB2B | ENSG00000129472.15 | transcript | ENST00000397762.6 | protein_coding | 1391 | chr14 | TogoVar | |||||||
RAB31_chr18_9703301_9867551 | 9776974 | TATTTCAG others(8): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 322 | 0.0031 | -15 | c.119 others(32): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9780939 | AAACAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01167.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0148 others(37): Show |
40 | 322 | 0.1242 | -15 | c.119 others(32): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9844832 | AGTTTTGT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021 | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0114 others(12): Show |
15 | 322 | 0.0466 | -15 | c.381 others(30): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51909857 | TCCTGGAT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02630.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(9): Show | a0001c0001t0006g0004 a0001c0001t0007g0002 a0001c0001t0009g0003 others(9): Show |
12 | 62 | 0.1936 | -15 | c.*10 others(28): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 10055 | chr1 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51912555 | ATATATAT others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG02965.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0040a0001c0001t0041 | a0001c0001t0034g0031 a0001c0001t0040g0036 a0001c0001t0041g0046 |
3 | 62 | 0.0484 | -15 | c.*73 others(26): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 5/5 | 7357 | chr1 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58627471 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02148.hp1 NA18961.hp2 NA20805.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(1): Show | a0001c0001t0004g0214 a0001c0001t0005g0148 a0001c0001t0012g0181 others(1): Show |
4 | 220 | 0.0182 | -15 | c.252 others(32): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58745392 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0162 | 1 | 220 | 0.0046 | -15 | c.371 others(34): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58797352 | AAATATGT others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0084 | a0001c0001t0049g0209 a0001c0001t0084g0217 |
2 | 220 | 0.0091 | -15 | c.372 others(34): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135051714 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 280 | 0.0036 | -15 | c.-59 others(24): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 577 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135081320 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0248 | 1 | 280 | 0.0036 | -15 | c.151 others(32): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135081328 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA19043.hp2 NA21309.hp1 |
a0001 | a0001c0004 | a0001c0004t0013a0001c0004t0026 | a0001c0004t0013g0257 a0001c0004t0026g0255 |
2 | 280 | 0.0071 | -15 | c.151 others(32): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135117441 | TCTTCTTC others(8): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01192.hp1 others(55): Show |
a0001a0009 | a0001c0001a0001c0007a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0159 a0001c0001t0002g0002 a0001c0001t0002g0139 others(55): Show |
58 | 280 | 0.2071 | -15 | c.648 others(32): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135117531 | GCTTCTTC others(8): Show |
G | intron_variant | MODIFIER | HG04228.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 a0001c0001t0002g0199 |
2 | 280 | 0.0071 | -15 | c.648 others(32): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB40C_chr16_585066_634268 | 609339 | GGGGGACA others(8): Show |
G | intron_variant | MODIFIER | HG02886.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0139 a0001c0001t0010g0035 |
2 | 350 | 0.0057 | -15 | c.143 others(32): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB44_chr6_36692826_36738184 | 36702323 | AGAGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01358.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0002g0143 others(1): Show |
4 | 428 | 0.0094 | -15 | c.-12 others(32): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302280 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 400 | 0.0025 | -15 | c.542 others(30): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302294 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 400 | 0.0025 | -15 | c.542 others(30): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302299 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 400 | 0.0025 | -15 | c.542 others(30): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42140501 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0255 | 1 | 306 | 0.0033 | -15 | c.-88 others(32): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140511 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 306 | 0.0033 | -15 | c.-88 others(32): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140513 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0187 |
2 | 306 | 0.0065 | -15 | c.-88 others(32): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar |