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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB15_chr14_64940816_64977336 | 64973893 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 HG02572.hp2 HG02809.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0038a0001c0001t0039others(2): Show | a0001c0001t0003g0007 a0001c0001t0038g0267 a0001c0001t0039g0265 others(9): Show |
14 | 382 | 0.0367 | 18 | c.-18 others(29): Show |
RAB15 | ENSG00000139998.16 | transcript | ENST00000533601.7 | protein_coding | 1558 | chr14 | TogoVar | |||||||
RAB17_chr2_237569326_237595734 | 237591220 | A | AAATTCTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(233): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0002c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0008 others(163): Show |
236 | 424 | 0.5566 | 18 | c.-75 others(27): Show |
RAB17 | ENSG00000124839.13 | transcript | ENST00000264601.8 | protein_coding | 487 | chr2 | TogoVar | |||||||
RAB18_chr10_27499304_27547239 | 27546498 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02572.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0047a0001c0001t0049others(1): Show | a0001c0001t0007g0225 a0001c0001t0047g0234 a0001c0001t0049g0235 others(2): Show |
5 | 410 | 0.0122 | 18 | c.*84 others(29): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 4260 | chr10 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65103303 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18997.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0224 |
3 | 340 | 0.0088 | 18 | c.96+ others(33): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65103304 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01123.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0001t0001g0102 others(19): Show |
24 | 340 | 0.0706 | 18 | c.96+ others(33): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65103304 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 340 | 0.0029 | 18 | c.96+ others(33): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110527900 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18972.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0191 a0001c0002t0001g0208 |
2 | 426 | 0.0047 | 18 | c.173 others(35): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110561766 | G | GCCCCGCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01069.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0095 others(21): Show |
24 | 426 | 0.0563 | 18 | c.-24 others(27): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 45 | chr13 | TogoVar | |||||||
RAB21_chr12_71749863_71805286 | 71753353 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0181a0001c0001t0185others(1): Show | a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0181g0055 others(2): Show |
5 | 380 | 0.0132 | 18 | c.-17 others(29): Show |
RAB21 | ENSG00000080371.6 | transcript | ENST00000261263.5 | protein_coding | 1509 | chr12 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55241624 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 320 | 0.0031 | 18 | c.-22 others(35): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55274794 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0032 | a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0084 others(4): Show |
7 | 320 | 0.0219 | 18 | c.-14 others(37): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55274794 | T | TTTTATAT others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0115 others(5): Show |
8 | 320 | 0.0250 | 18 | c.-14 others(37): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
RAB27B_chr18_54823477_54900516 | 54850333 | G | GACATATA others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02523.hp2 NA18954.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 others(1): Show |
4 | 334 | 0.0120 | 18 | c.-20 others(37): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB27B_chr18_54823477_54900516 | 54850333 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0028 others(12): Show |
15 | 334 | 0.0449 | 18 | c.-20 others(37): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60552001 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18612.hp1 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 a0001c0001t0003g0060 a0001c0001t0003g0062 others(3): Show |
6 | 358 | 0.0168 | 18 | c.47- others(33): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60605828 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0186 | 1 | 358 | 0.0028 | 18 | c.475 others(37): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60605832 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02922.hp2 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0005g0305 others(1): Show |
4 | 358 | 0.0112 | 18 | c.475 others(37): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60605852 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0071 a0001c0001t0004g0333 |
2 | 358 | 0.0056 | 18 | c.475 others(37): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2B_chr14_21454020_21481959 | 21470993 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0212 | 1 | 412 | 0.0024 | 18 | c.187 others(35): Show |
RAB2B | ENSG00000129472.15 | transcript | ENST00000397762.6 | protein_coding | 3/7 | chr14 | TogoVar | |||||||
RAB30_chr11_82968133_83076897 | 83014666 | G | GGAGGAAG others(11): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0169 | 1 | 328 | 0.0031 | 18 | c.-8- others(35): Show |
RAB30 | ENSG00000137502.10 | transcript | ENST00000527633.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
RAB31_chr18_9703301_9867551 | 9719298 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 322 | 0.0031 | 18 | c.39+ others(35): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9863435 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0146 a0001c0001t0001g0207 a0001c0001t0018g0074 others(1): Show |
4 | 322 | 0.0124 | 18 | c.*41 others(29): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 885 | chr18 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74734999 | G | GGAAGGAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG03540.hp1 NA18978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0005g0016 |
4 | 432 | 0.0093 | 18 | c.-22 others(29): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 2256 | chr17 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74734999 | G | GGAAGGAA others(11): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 NA19056.hp1 NA19079.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0016 a0001c0001t0002g0105 |
5 | 432 | 0.0116 | 18 | c.-22 others(29): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 2256 | chr17 | TogoVar | |||||||
RAB38_chr11_88108251_88180443 | 88164256 | C | CGGCGGGG others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0326 | 1 | 420 | 0.0024 | 18 | c.202 others(37): Show |
RAB38 | ENSG00000123892.12 | transcript | ENST00000243662.11 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
RAB38_chr11_88108251_88180443 | 88177003 | A | AGGCCTGT others(11): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 420 | 0.0024 | 18 | c.-16 others(29): Show |
RAB38 | ENSG00000123892.12 | transcript | ENST00000243662.11 | protein_coding | 1561 | chr11 | TogoVar | |||||||
RAB39A_chr11_107923448_107968482 | 107923664 | C | CTCCTCCT others(11): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 a0001c0001t0004g0101 |
2 | 406 | 0.0049 | 18 | c.-49 others(29): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 4783 | chr11 | TogoVar | |||||||
RAB3A_chr19_18191784_18209042 | 18201259 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0071 | 1 | 370 | 0.0027 | 18 | c.229 others(33): Show |
RAB3A | ENSG00000105649.10 | transcript | ENST00000222256.9 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51903703 | C | CCAGACCC others(11): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0045 | a0001c0001t0044g0062 a0001c0001t0045g0061 |
2 | 62 | 0.0323 | 18 | c.*16 others(31): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 4252 | chr1 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51967521 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02895.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0015 | a0001c0001t0005g0024 a0001c0001t0012g0023 a0001c0001t0015g0021 |
3 | 62 | 0.0484 | 18 | c.228 others(35): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51989103 | G | GCGCGCAC others(11): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0040 | 1 | 62 | 0.0161 | 18 | c.-1+ others(33): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51989208 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0059 | 1 | 62 | 0.0161 | 18 | c.-1+ others(33): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58610194 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01884.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0071 others(20): Show |
23 | 220 | 0.1046 | 18 | c.25- others(33): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58612518 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0113 | 1 | 220 | 0.0046 | 18 | c.25- others(33): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58677976 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01516.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0060 | a0001c0001t0004g0205 a0001c0001t0060g0007 |
2 | 220 | 0.0091 | 18 | c.253 others(37): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693336 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0106 | 1 | 220 | 0.0046 | 18 | c.253 others(37): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58693353 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 220 | 0.0046 | 18 | c.253 others(37): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58833324 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0075 | 1 | 220 | 0.0046 | 18 | c.496 others(35): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58833324 | T | TCTCACAC others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0103 | 1 | 220 | 0.0046 | 18 | c.496 others(35): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATGT others(11): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0177 | 1 | 220 | 0.0046 | 18 | c.497 others(35): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135048369 | A | ACTCTCTC others(11): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01978.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0216 a0001c0001t0003g0230 a0001c0001t0003g0231 others(6): Show |
9 | 280 | 0.0321 | 18 | c.-39 others(29): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3922 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135048373 | A | ACACTCTC others(11): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0005 | 1 | 280 | 0.0036 | 18 | c.-39 others(29): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3918 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135048373 | A | ACTCACTC others(11): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0272 | 1 | 280 | 0.0036 | 18 | c.-39 others(29): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3918 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135048373 | A | ACTCTCTC others(11): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0248 | 1 | 280 | 0.0036 | 18 | c.-39 others(29): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3918 | chr2 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135103035 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01978.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0021 | a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 others(3): Show |
6 | 280 | 0.0214 | 18 | c.362 others(35): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135117409 | T | TTTCTTCT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG02896.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0001g0214 others(10): Show |
13 | 280 | 0.0464 | 18 | c.648 others(35): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135117450 | T | TCTTCTTC others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 280 | 0.0036 | 18 | c.648 others(35): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135117663 | G | GCTTCTGC others(11): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19030.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0013a0001c0004t0026 | a0001c0004t0013g0246 a0001c0004t0013g0256 a0001c0004t0013g0257 others(1): Show |
4 | 280 | 0.0143 | 18 | c.648 others(35): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP2_chr1_220143293_220277453 | 220163744 | C | CATACATA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0032 a0001c0001t0003g0189 |
2 | 378 | 0.0053 | 18 | c.315 others(35): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 27/34 | chr1 | TogoVar | |||||||
RAB3GAP2_chr1_220143293_220277453 | 220214946 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00735.hp1 others(37): Show |
a0001a0009 | a0001c0001a0001c0004a0001c0020others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0071 a0001c0001t0002g0133 a0001c0001t0002g0191 others(37): Show |
40 | 378 | 0.1058 | 18 | c.181 others(33): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 2/34 | chr1 | TogoVar |