| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PXDNL_chr8_51314577_51814445 | 51381622 | CTTTATTT others(17): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 122 | 0.0082 | -24 | c.355 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 17/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51432929 | CAGGCGCA others(17): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01192.hp1 others(23): Show |
a0002a0017a0028others(5): Show | a0002c0002a0002c0021a0002c0037others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0023a0002c0002t0001g0028a0002c0002t0001g0039others(23): Show | 26 | 122 | 0.2131 | -24 | c.152 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 12/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51535015 | GGGCACCT others(17): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0058 | 1 | 122 | 0.0082 | -24 | c.380 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51577923 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0030 | 1 | 122 | 0.0082 | -24 | c.308 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51744028 | GGGAAGGA others(17): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02258.hp1 HG03209.hp2 others(1): Show |
a0002a0003a0020others(1): Show | a0002c0002a0003c0005a0020c0035others(1): Show | a0002c0002t0001a0003c0005t0003a0020c0035t0003others(1): Show | a0002c0002t0001g0039a0003c0005t0003g0010a0020c0035t0003g0011others(1): Show | 4 | 122 | 0.0328 | -24 | c.164 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51744970 | AAGAAAGA others(17): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01070.hp2 others(59): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0011a0002c0002others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0002others(35): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0026others(59): Show | 62 | 122 | 0.5082 | -24 | c.164 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1658027 | GCTCTCTC others(17): Show |
G | intron_variant | MODIFIER | NA19010.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0002 | a0001c0001t0004g0302a0001c0003t0002g0023 | 2 | 322 | 0.0062 | -24 | c.183 others(43): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1703920 | AGGTGGGG others(17): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG02080.hp1 NA18967.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0002g0294a0001c0001t0002g0295a0001c0001t0003g0196others(2): Show | 5 | 322 | 0.0155 | -24 | c.201 others(43): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1720047 | GAGAGAGA others(17): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02818.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0008a0001c0004t0004others(5): Show | a0001c0001t0001g0052a0001c0003t0008g0305a0001c0004t0004g0164others(5): Show | 8 | 322 | 0.0248 | -24 | c.200 others(43): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| PXK_chr3_58327892_58431127 | 58378508 | TTTTTTGT others(17): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0041 | 1 | 300 | 0.0033 | -24 | c.202 others(41): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132688746 | CACGGGTG others(17): Show |
C | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0046 | 1 | 350 | 0.0029 | -24 | c.122 others(39): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| PXMP2_chr12_132682587_132709985 | 132692516 | TCCCTTGC others(17): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG02451.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0030others(4): Show | 15 | 350 | 0.0429 | -24 | c.236 others(41): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132693906 | CAGTTAGT others(17): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 350 | 0.0029 | -24 | c.237 others(41): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132695038 | AGCCAGTT others(17): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 350 | 0.0029 | -24 | c.237 others(39): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PYCARD_chr16_31196486_31207760 | 31205946 | TTTTCTTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 354 | 0.0057 | -24 | c.-32 others(35): Show |
PYCARD | ENSG00000103490.14 | transcript | ENST00000247470.10 | protein_coding | 3187 | chr16 | TogoVar | ||||||
| PYHIN1_chr1_158926552_158982059 | 158976868 | CTATATAT others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01975.hp2 HG02109.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0022 | a0001c0001t0009g0089a0001c0001t0009g0253a0001c0001t0009g0319others(2): Show | 5 | 398 | 0.0126 | -24 | c.*19 others(33): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 9/9 | 3127 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| PYROXD1_chr12_21432655_21476250 | 21469929 | ATGAACTT others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0060 | 1 | 416 | 0.0024 | -24 | c.*11 others(35): Show |
PYROXD1 | ENSG00000121350.16 | transcript | ENST00000240651.14 | protein_coding | 12/12 | 1176 | chr12 | TogoVar | |||||
| QKI_chr6_163409718_163583592 | 163553062 | TTTTATTT others(17): Show |
T | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0133 | 1 | 302 | 0.0033 | -24 | c.547 others(41): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| QRICH2_chr17_76269049_76313276 | 76301872 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | NA19030.hp2 NA19043.hp2 |
a0016 | a0016c0017 | a0016c0017t0002 | a0016c0017t0002g0024a0016c0017t0002g0026 | 2 | 364 | 0.0055 | -24 | c.705 others(41): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
| QTRT2_chr3_114051737_114093422 | 114060496 | GTAGATAG others(17): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 430 | 0.0023 | -24 | c.-22 others(41): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| R3HCC1_chr8_23283108_23301279 | 23286157 | TTCTTTCT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02809.hp2 HG02922.hp1 others(2): Show |
a0001a0003 | a0001c0022a0003c0007 | a0001c0022t0001a0003c0007t0001 | a0001c0022t0001g0072a0003c0007t0001g0017 | 5 | 472 | 0.0106 | -24 | c.-20 others(35): Show |
R3HCC1 | ENSG00000104679.12 | transcript | ENST00000265806.12 | protein_coding | 1950 | chr8 | TogoVar | ||||||
| R3HDM1_chr2_135526484_135730269 | 135698980 | CAGATAGA others(17): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 232 | 0.0043 | -24 | c.246 others(45): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAB10_chr2_26029084_26142454 | 26092261 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02622.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010 | a0001c0001t0004g0014a0001c0001t0005g0078a0001c0001t0005g0079others(8): Show | 11 | 212 | 0.0519 | -24 | c.128 others(41): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAB11FIP4_chr17_31386675_31543211 | 31445562 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02523.hp2 HG03453.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0034 | a0001c0001t0001g0112a0001c0001t0001g0169a0001c0002t0034g0263 | 3 | 310 | 0.0097 | -24 | c.336 others(43): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAB11FIP5_chr2_73068382_73117948 | 73106979 | GAGAGGCC others(17): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0163 | 1 | 378 | 0.0027 | -24 | c.431 others(41): Show |
RAB11FIP5 | ENSG00000135631.17 | transcript | ENST00000486777.7 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02129.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0050 | a0001c0001t0043g0212a0001c0001t0043g0215a0001c0001t0050g0032 | 3 | 404 | 0.0074 | -24 | c.*90 others(33): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 907 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
| RAB14_chr9_121173133_121206869 | 121198901 | CAATTTCC others(17): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 384 | 0.0026 | -24 | c.-8+ others(39): Show |
RAB14 | ENSG00000119396.12 | transcript | ENST00000373840.9 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
| RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0015 | a0001c0001t0005g0286a0001c0001t0013g0102a0001c0001t0015g0095 | 3 | 358 | 0.0084 | -24 | c.119 others(41): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RAB2A_chr8_60511987_60628644 | 60608483 | CTCTTCCT others(17): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0075a0001c0001t0004g0076a0001c0001t0004g0077others(28): Show | 31 | 358 | 0.0866 | -24 | c.475 others(43): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RAB30_chr11_82968133_83076897 | 83014634 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG03688.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0202a0001c0001t0002g0273 | 2 | 328 | 0.0061 | -24 | c.-8- others(41): Show |
RAB30 | ENSG00000137502.10 | transcript | ENST00000527633.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58612512 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0008 | 1 | 220 | 0.0046 | -24 | c.25- others(39): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58737394 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0125a0001c0001t0004g0112a0001c0001t0004g0119others(13): Show | 16 | 220 | 0.0727 | -24 | c.371 others(43): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58797354 | ATATGTAT others(17): Show |
A | intron_variant | MODIFIER | NA18747.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0220a0001c0001t0025g0151 | 2 | 220 | 0.0091 | -24 | c.372 others(43): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | chr5 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58813611 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01070.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0002g0072a0001c0001t0003g0020a0001c0001t0003g0089others(13): Show | 16 | 220 | 0.0727 | -24 | c.372 others(43): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58813613 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0010a0001c0001t0011g0212 | 2 | 220 | 0.0091 | -24 | c.372 others(43): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3GAP1_chr2_135047292_135175710 | 135117432 | TCTTCTTC others(17): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0179 | 1 | 280 | 0.0036 | -24 | c.648 others(41): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAB3GAP1_chr2_135047292_135175710 | 135170817 | TGGGGGGC others(17): Show |
T | downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034 | 1 | 280 | 0.0036 | -24 | c.*20 others(35): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 108 | chr2 | TogoVar | ||||||
| RAB3IL1_chr11_61892301_61922566 | 61917308 | CGACCGCG others(17): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0145 | 1 | 392 | 0.0026 | -24 | c.11+ others(35): Show |
RAB3IL1 | ENSG00000167994.13 | transcript | ENST00000394836.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| RAB40A_chrX_103494130_103524489 | 103508276 | CTGGAAGC others(17): Show |
C | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 266 | 0.0038 | -24 | c.-70 others(41): Show |
RAB40A | ENSG00000172476.4 | transcript | ENST00000304236.2 | protein_coding | 2/2 | chrX | TogoVar | ||||||
| RAB40C_chr16_585066_634268 | 603110 | ATGTTCTG others(17): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 350 | 0.0029 | -24 | c.142 others(43): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB44_chr6_36692826_36738184 | 36696584 | TTTTCTTT others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18995.hp1 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0335a0001c0002t0006g0353 | 2 | 428 | 0.0047 | -24 | c.-13 others(35): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1241 | chr6 | TogoVar | ||||||
| RAB44_chr6_36692826_36738184 | 36734313 | CAGAGAGA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0110 | 2 | 428 | 0.0047 | -24 | c.*22 others(35): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1130 | chr6 | TogoVar | ||||||
| RAB5B_chr12_55969078_56001683 | 55973056 | CCACACCA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01070.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0028a0001c0001t0029others(2): Show | a0001c0001t0012g0023a0001c0001t0012g0091a0001c0001t0012g0092others(10): Show | 17 | 382 | 0.0445 | -24 | c.-11 others(35): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 1021 | chr12 | TogoVar | ||||||
| RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03710.hp2 NA19010.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0147a0001c0001t0001g0200others(2): Show | 5 | 306 | 0.0163 | -24 | c.-89 others(41): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| RAB5IF_chr20_36600779_36617557 | 36609187 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01074.hp2 HG01257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0043a0001c0001t0001g0173a0001c0001t0003g0143others(1): Show | 5 | 398 | 0.0126 | -24 | c.219 others(39): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RAB6A_chr11_73670638_73766074 | 73722327 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 354 | 0.0028 | -24 | c.130 others(41): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73731684 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154a0001c0001t0001g0175 | 2 | 354 | 0.0057 | -24 | c.71- others(37): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73731709 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0099a0001c0001t0001g0102a0001c0001t0001g0103others(97): Show | 100 | 354 | 0.2825 | -24 | c.71- others(37): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73731711 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 354 | 0.0028 | -24 | c.71- others(37): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| RAB6A_chr11_73670638_73766074 | 73731713 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02257.hp1 HG02300.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0012a0001c0001t0003g0014a0001c0001t0003g0021others(8): Show | 11 | 354 | 0.0311 | -24 | c.71- others(37): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar |