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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKN_chr6_161342417_162732766 | 162275254 | GAAGATAC others(30): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03041.hp2 HG03209.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0002 | a0001c0001t0001g0007 a0001c0001t0001g0024 a0003c0006t0002g0004 |
3 | 32 | 0.0938 | -37 | c.172 others(56): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRODH_chr22_18907781_18941293 | 18940798 | CATTGCTT others(30): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0040 | a0040c0077 | a0040c0077t0001 | a0040c0077t0001g0245 | 1 | 408 | 0.0025 | -37 | c.-45 others(48): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 4506 | chr22 | TogoVar | |||||||
PROK1_chr1_110446149_110462358 | 110458039 | CTTTTTTT others(30): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 155 | 0.0065 | -37 | c.*16 others(48): Show |
PROK1 | ENSG00000143125.6 | transcript | ENST00000271331.4 | protein_coding | 682 | chr1 | TogoVar | |||||||
PROK2_chr3_71766655_71790148 | 71783324 | ATTTTATT others(30): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 436 | 0.0023 | -37 | c.96+ others(52): Show |
PROK2 | ENSG00000163421.9 | transcript | ENST00000295619.4 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
PRR12_chr19_49586182_49631439 | 49621249 | GGGCTGGG others(30): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 305 | 0.0033 | -37 | c.562 others(54): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128354946 | GATTGTGT others(30): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 446 | 0.0022 | -37 | c.878 others(54): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
PRSS50_chr3_46707117_46722869 | 46721225 | GTCCTTTG others(30): Show |
G | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -37 | c.-34 others(48): Show |
PRSS50 | ENSG00000283706.2 | transcript | ENST00000315170.13 | protein_coding | 3357 | chr3 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752528 | AATTATAT others(30): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG03225.hp2 |
a0001a0005 | a0001c0001a0001c0028a0005c0019 | a0001c0001t0058a0001c0028t0006a0005c0019t0068 | a0001c0001t0058g0008 a0001c0028t0006g0199 a0005c0019t0068g0103 |
3 | 216 | 0.0139 | -37 | c.217 others(58): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865258 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG03225.hp1 NA20129.hp2 |
a0002 | a0002c0007a0002c0031 | a0002c0007t0017a0002c0031t0023 | a0002c0007t0017g0117 a0002c0031t0023g0193 |
2 | 224 | 0.0089 | -37 | c.163 others(56): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73184425 | TGGCCTGG others(30): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0074 |
3 | 376 | 0.0080 | -37 | c.481 others(54): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMA7_chr20_62131733_62148394 | 62148348 | CGGTCAGG others(30): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 360 | 0.0056 | -37 | c.-50 others(48): Show |
PSMA7 | ENSG00000101182.15 | transcript | ENST00000370873.9 | protein_coding | 4955 | chr20 | TogoVar | |||||||
PSMD4_chr1_151249734_151272479 | 151269895 | GCCTCCCA others(30): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02451.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0025 others(9): Show |
21 | 417 | 0.0504 | -37 | c.*25 others(48): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 2417 | chr1 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53940917 | AATATATA others(30): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG03453.hp1 |
a0005 | a0005c0011 | a0005c0011t0001a0005c0011t0002 | a0005c0011t0001g0362 a0005c0011t0001g0364 a0005c0011t0002g0363 |
3 | 176 | 0.0170 | -37 | c.501 others(52): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3/46 | chr2 | TogoVar | |||||||
PSPC1_chr13_19697500_19787945 | 19779003 | GGGAGCGC others(30): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 256 | 0.0039 | -37 | c.372 others(54): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
PTBP2_chr1_96716784_96820049 | 96762266 | TGGCCGGG others(30): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 others(3): Show |
6 | 362 | 0.0166 | -37 | c.116 others(54): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTCHD1_chrX_23329849_23409374 | 23342282 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02523.hp2 HG03710.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(8): Show | a0001c0001t0002g0243 a0001c0001t0006g0236 a0001c0001t0012g0001 others(9): Show |
13 | 264 | 0.0492 | -37 | c.351 others(54): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PTCHD1_chrX_23329849_23409374 | 23342284 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01081.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0043others(11): Show | a0001c0001t0001g0019 a0001c0001t0006g0232 a0001c0001t0006g0234 others(18): Show |
21 | 190 | 0.1105 | -37 | c.351 others(54): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PTCHD1_chrX_23329849_23409374 | 23342286 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0166 | a0001c0001t0166g0220 | 1 | 282 | 0.0035 | -37 | c.351 others(54): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PTEN_chr10_87858625_87976930 | 87918010 | ACAAAGTC others(30): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0294 a0001c0001t0031g0296 |
2 | 320 | 0.0063 | -37 | c.165 others(54): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
PTK2B_chr8_27320552_27464386 | 27350989 | AAATATAT others(30): Show |
A | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0212 | 1 | 302 | 0.0033 | -37 | c.-38 others(56): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27350991 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 228 | 0.0044 | -37 | c.-38 others(56): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141433363 | GGCCTGGC others(30): Show |
G | downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 322 | 0.0031 | -37 | c.*23 others(48): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 910 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141437022 | ATGGGGAG others(30): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(80): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(75): Show |
83 | 313 | 0.2652 | -37 | c.*59 others(48): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 4569 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141437059 | GTGGGGAG others(30): Show |
G | downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 321 | 0.0031 | -37 | c.*60 others(48): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 4606 | chr8 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77641210 | ATTTTTTT others(30): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG03579.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0084 a0002c0002t0001g0097 a0003c0003t0001g0168 |
3 | 49 | 0.0612 | -37 | c.*19 others(48): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 1142 | chr7 | TogoVar | |||||||
PTPN9_chr15_75458251_75584315 | 75559121 | GGGAGCGC others(30): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0113 | 1 | 324 | 0.0031 | -37 | c.63+ others(54): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10449671 | GCCTCTGC others(30): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0016 | a0005c0016t0020 | a0005c0016t0020g0011 | 1 | 34 | 0.0294 | -37 | c.-59 others(60): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61803465 | TTGGACAA others(30): Show |
T | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 94 | 0.0106 | -37 | c.190 others(56): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRH_chr19_55176247_55214501 | 55208100 | TCCTGGGT others(30): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0048 | 1 | 376 | 0.0027 | -37 | c.52- others(50): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
PTPRH_chr19_55176247_55214501 | 55208764 | GGCCTGAA others(30): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0048 | 1 | 376 | 0.0027 | -37 | c.51+ others(50): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
PTPRH_chr19_55176247_55214501 | 55208935 | TCTGGACT others(30): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01981.hp1 HG02602.hp2 |
a0001a0035 | a0001c0001a0035c0081 | a0001c0001t0001a0035c0081t0003 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0035c0081t0003g0043 |
3 | 376 | 0.0080 | -37 | c.51+ others(50): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
PURB_chr7_44871299_44890530 | 44871803 | CCACCTCC others(30): Show |
C | downstream_gene_variant | MODIFIER | NA18944.hp1 NA18954.hp2 NA18963.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 410 | 0.0146 | -37 | c.*12 others(50): Show |
PURB | ENSG00000146676.10 | transcript | ENST00000395699.5 | protein_coding | 4495 | chr7 | TogoVar | |||||||
PURB_chr7_44871299_44890530 | 44871837 | CCCTCACC others(30): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02818.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0011 | a0001c0001t0001g0000 a0001c0002t0011g0000 |
5 | 410 | 0.0122 | -37 | c.*12 others(50): Show |
PURB | ENSG00000146676.10 | transcript | ENST00000395699.5 | protein_coding | 4461 | chr7 | TogoVar | |||||||
PURB_chr7_44871299_44890530 | 44872088 | AGCCGGGC others(30): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0000 | 2 | 410 | 0.0049 | -37 | c.*12 others(50): Show |
PURB | ENSG00000146676.10 | transcript | ENST00000395699.5 | protein_coding | 4210 | chr7 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668339 | AATATATA others(30): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(309): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0020 others(198): Show |
312 | 402 | 0.7761 | -37 | c.*65 others(48): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2178 | chr19 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51599622 | TTATCTTA others(30): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02451.hp1 others(6): Show |
a0002a0004a0005others(3): Show | a0002c0002a0004c0041a0005c0015others(4): Show | a0002c0002t0001a0004c0041t0001a0005c0015t0001others(4): Show | a0002c0002t0001g0067 a0002c0002t0001g0068 a0004c0041t0001g0057 others(6): Show |
9 | 120 | 0.0750 | -37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51599759 | TATAATAA others(30): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0010 | a0010c0012 | a0010c0012t0003 | a0010c0012t0003g0012 | 1 | 100 | 0.0100 | -37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51599773 | TCTTATAT others(30): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG02717.hp2 HG02922.hp2 others(5): Show |
a0001a0003a0010others(2): Show | a0001c0001a0003c0005a0010c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0003c0005t0001others(4): Show | a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 others(5): Show |
8 | 84 | 0.0952 | -37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51600492 | GTTTAGAT others(30): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02486.hp1 others(3): Show |
a0002a0005a0009others(1): Show | a0002c0002a0005c0015a0009c0008others(1): Show | a0002c0002t0001a0005c0015t0001a0009c0008t0003others(1): Show | a0002c0002t0001g0067 a0002c0002t0001g0068 a0005c0015t0001g0030 others(3): Show |
6 | 82 | 0.0732 | -37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51600917 | ATATAAAT others(30): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02717.hp2 HG02922.hp2 others(5): Show |
a0001a0003a0010others(2): Show | a0001c0001a0003c0005a0010c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0003c0005t0001others(4): Show | a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 others(5): Show |
8 | 99 | 0.0808 | -37 | c.237 others(54): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PYDC1_chr16_31210962_31222135 | 31221624 | GGGAGAAG others(30): Show |
G | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 344 | 0.0029 | -37 | c.-46 others(48): Show |
PYDC1 | ENSG00000169900.8 | transcript | ENST00000302964.4 | protein_coding | 4490 | chr16 | TogoVar | |||||||
PYGM_chr11_64741398_64764974 | 64743281 | GCTCGGCT others(30): Show |
G | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 348 | 0.0029 | -37 | c.*33 others(48): Show |
PYGM | ENSG00000068976.14 | transcript | ENST00000164139.4 | protein_coding | 3116 | chr11 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121368857 | ATGAAAAA others(30): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG02015.hp2 others(24): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0008 | a0001c0001t0003a0003c0004t0006a0003c0004t0009others(2): Show | a0001c0001t0003g0278 a0003c0004t0006g0319 a0003c0004t0006g0320 others(23): Show |
27 | 382 | 0.0707 | -37 | c.340 others(56): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 891767 | GGGGGCTG others(30): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0160 others(3): Show |
6 | 430 | 0.0140 | -37 | c.*56 others(48): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 4735 | chr19 | TogoVar | |||||||
RAB10_chr2_26029084_26142454 | 26140451 | ACTTTTTT others(30): Show |
A | downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 210 | 0.0048 | -37 | c.*54 others(48): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 2998 | chr2 | TogoVar | |||||||
RAB11FIP4_chr17_31386675_31543211 | 31445548 | ATATATAT others(30): Show |
A | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 306 | 0.0033 | -37 | c.336 others(56): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB20_chr13_110518066_110566722 | 110520395 | CCCGTGTG others(30): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 424 | 0.0024 | -37 | c.*32 others(48): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 2670 | chr13 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60549129 | GGGCAGAG others(30): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 356 | 0.0028 | -37 | c.47- others(52): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB3A_chr19_18191784_18209042 | 18197766 | CAACTTAT others(30): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0072 others(72): Show |
142 | 368 | 0.3859 | -37 | c.473 others(52): Show |
RAB3A | ENSG00000105649.10 | transcript | ENST00000222256.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
RAB3IP_chr12_69733860_69828199 | 69807412 | CTCCCAGA others(30): Show |
C | intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0004 | a0002c0004t0046 | a0002c0004t0046g0302 | 1 | 400 | 0.0025 | -37 | c.113 others(56): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |