| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PTDSS2_chr11_445279_496399 | 482976 | AGTTCTGT others(35): Show |
A | intron_variant | MODIFIER | HG01192.hp1 NA18995.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0210a0001c0002t0001g0138 | 2 | 346 | 0.0058 | -42 | c.436 others(59): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PTDSS2_chr11_445279_496399 | 485547 | GTGCACGG others(35): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(90): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0010others(85): Show | 93 | 346 | 0.2688 | -42 | c.436 others(59): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PTH1R_chr3_46872721_46908799 | 46884065 | ATCATCCA others(35): Show |
A | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 356 | 0.0028 | -42 | c.75+ others(55): Show |
PTH1R | ENSG00000160801.14 | transcript | ENST00000449590.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PTP4A2_chr1_31901421_31943368 | 31908113 | AATATATA others(35): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG03579.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0140a0001c0001t0141a0001c0001t0142 | a0001c0001t0140g0257a0001c0001t0141g0283a0001c0001t0142g0291 | 3 | 354 | 0.0085 | -42 | c.*69 others(51): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 697 | chr1 | TogoVar | ||||||
| PTPN14_chr1_214343700_214556602 | 214436800 | AAAAAAAA others(35): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00639.hp1 others(72): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(60): Show | a0001c0001t0002g0020a0001c0001t0002g0030a0001c0001t0002g0101others(72): Show | 75 | 272 | 0.2757 | -42 | c.344 others(61): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| PTPRR_chr12_70633079_70925738 | 70733440 | AAAAAAGA others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(102): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0004a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014others(102): Show | 105 | 204 | 0.5147 | -42 | c.100 others(63): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 6/13 | chr12 | TogoVar | |||||||
| PTPRT_chr20_42067756_43194906 | 42276496 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02109.hp1 HG02809.hp2 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0002c0014others(2): Show | a0001c0003t0020a0002c0001t0010a0002c0014t0007others(2): Show | a0001c0003t0020g0047a0002c0001t0010g0024a0002c0014t0007g0004others(2): Show | 5 | 62 | 0.0807 | -42 | c.217 others(61): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 13/30 | chr20 | TogoVar | |||||||
| PTPRZ1_chr7_121868161_122067036 | 122000646 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 312 | 0.0032 | -42 | c.124 others(61): Show |
PTPRZ1 | ENSG00000106278.12 | transcript | ENST00000393386.7 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| PTTG1IP_chr21_44844598_44878690 | 44877976 | CTTGTTCC others(35): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 444 | 0.0023 | -42 | c.-44 others(53): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 4287 | chr21 | TogoVar | |||||||
| PUSL1_chr1_1303597_1316677 | 1315752 | GAGCGAGG others(35): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01106.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0012a0007c0010 | a0001c0001t0001a0001c0012t0001a0007c0010t0001 | a0001c0001t0001g0002a0001c0012t0001g0002a0007c0010t0001g0002 | 10 | 352 | 0.0284 | -42 | c.*43 others(53): Show |
PUSL1 | ENSG00000169972.13 | transcript | ENST00000379031.10 | protein_coding | 4076 | chr1 | TogoVar | |||||||
| PWWP3A_chr19_1349959_1383429 | 1368937 | CCCCGGTG others(35): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0106 | 1 | 412 | 0.0024 | -42 | c.142 others(59): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1703692 | GCGGGGGA others(35): Show |
G | intron_variant | MODIFIER | HG01952.hp2 | a0014 | a0014c0048 | a0014c0048t0001 | a0014c0048t0001g0322 | 1 | 322 | 0.0031 | -42 | c.201 others(61): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
| PXMP2_chr12_132682587_132709985 | 132693113 | CAGTTAGT others(35): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0027a0001c0004t0004g0078a0001c0004t0004g0079 | 4 | 350 | 0.0114 | -42 | c.237 others(59): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PXMP2_chr12_132682587_132709985 | 132694415 | TTAGTGAG others(35): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0005 | a0001c0004t0004g0027a0001c0004t0004g0028a0001c0004t0004g0078others(2): Show | 9 | 350 | 0.0257 | -42 | c.237 others(59): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
| PXYLP1_chr3_141226825_141299924 | 141248601 | ATATACAC others(35): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02257.hp2 HG02615.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0016a0003c0015 | a0001c0001t0001a0001c0001t0003a0001c0016t0005others(1): Show | a0001c0001t0001g0251a0001c0001t0003g0065a0001c0016t0005g0266others(1): Show | 4 | 384 | 0.0104 | -42 | c.-53 others(61): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PYURF_chr4_88515998_88528776 | 88528707 | ATTTCTTT others(35): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0017 | 1 | 446 | 0.0022 | -42 | c.-50 others(53): Show |
PYURF | ENSG00000145337.5 | transcript | ENST00000273968.5 | protein_coding | 4932 | chr4 | TogoVar | |||||||
| R3HDM4_chr19_891503_918219 | 892874 | AGCCCCGA others(35): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 432 | 0.0023 | -42 | c.*45 others(53): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3628 | chr19 | TogoVar | |||||||
| RAB26_chr16_2143625_2159165 | 2144874 | TGCCGGCC others(35): Show |
T | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | -42 | c.-39 others(53): Show |
RAB26 | ENSG00000167964.13 | transcript | ENST00000210187.11 | protein_coding | 3750 | chr16 | TogoVar | |||||||
| RAB3C_chr5_58578075_58864394 | 58756345 | TGTTATAT others(35): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0216 | 1 | 220 | 0.0046 | -42 | c.371 others(61): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
| RAB40B_chr17_82649973_82703698 | 82676269 | ACACACAG others(35): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp1 others(40): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0064a0001c0001t0001g0183a0001c0001t0002g0138others(39): Show | 43 | 338 | 0.1272 | -42 | c.143 others(61): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
| RAB40C_chr16_585066_634268 | 599555 | TGTCAGCG others(35): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0174a0001c0001t0003g0175a0001c0001t0003g0176others(4): Show | 7 | 350 | 0.0200 | -42 | c.142 others(59): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB40C_chr16_585066_634268 | 631768 | TCCCACCC others(35): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0158 | 1 | 350 | 0.0029 | -42 | c.*41 others(53): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 2501 | chr16 | TogoVar | |||||||
| RAB44_chr6_36692826_36738184 | 36734313 | CAGAGAGA others(35): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02886.hp1 others(2): Show |
a0002a0012 | a0002c0005a0002c0018a0012c0028 | a0002c0005t0008a0002c0018t0008a0012c0028t0021 | a0002c0005t0008g0293a0002c0005t0008g0294a0002c0005t0008g0295others(2): Show | 5 | 428 | 0.0117 | -42 | c.*22 others(53): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1130 | chr6 | TogoVar | |||||||
| RAB4A_chr1_229266111_229310894 | 229302269 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02165.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0120a0001c0001t0001g0134 | 3 | 400 | 0.0075 | -42 | c.542 others(57): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RAB5IF_chr20_36600779_36617557 | 36609177 | ACACACAC others(35): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0285a0001c0001t0002g0150 | 2 | 398 | 0.0050 | -42 | c.219 others(57): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| RAB7B_chr1_205971740_206008395 | 206007089 | TGTGGCTT others(35): Show |
T | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 330 | 0.0030 | -42 | c.-38 others(53): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 3695 | chr1 | TogoVar | |||||||
| RABAC1_chr19_41951683_41964321 | 41956053 | CGCTGCAT others(35): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 368 | 0.0027 | -42 | c.*75 others(51): Show |
RABAC1 | ENSG00000105404.11 | transcript | ENST00000222008.11 | protein_coding | 629 | chr19 | TogoVar | |||||||
| RABEP2_chr16_28899421_28930238 | 28926853 | TATGAACG others(35): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 366 | 0.0027 | -42 | c.-17 others(53): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 1616 | chr16 | TogoVar | |||||||
| RABGEF1_chr7_66735733_66816464 | 66757878 | TGGGATTA others(35): Show |
T | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 400 | 0.0025 | -42 | c.-17 others(61): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
| RABL6_chr9_136802948_136846187 | 136817490 | AGGGGAGG others(35): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 330 | 0.0030 | -42 | c.131 others(59): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| RAC3_chr17_82026678_82039204 | 82034806 | TGGTCCCG others(35): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0004g0001 | 2 | 404 | 0.0050 | -42 | c.*97 others(52): Show |
RAC3 | ENSG00000169750.9 | transcript | ENST00000306897.9 | protein_coding | 603 | chr17 | TogoVar | |||||||
| RAC3_chr17_82026678_82039204 | 82034897 | GGGATTGG others(35): Show |
G | downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | -42 | c.*10 others(53): Show |
RAC3 | ENSG00000169750.9 | transcript | ENST00000306897.9 | protein_coding | 694 | chr17 | TogoVar | |||||||
| RAD54L2_chr3_51533719_51673660 | 51607911 | CGGCTGGC others(35): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0022a0001c0001t0029others(3): Show | a0001c0001t0018g0146a0001c0001t0018g0147a0001c0001t0018g0148others(9): Show | 12 | 276 | 0.0435 | -42 | c.139 others(61): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| RADIL_chr7_4792055_4888716 | 4807609 | TTCTCTCT others(35): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp1 |
a0003 | a0003c0024 | a0003c0024t0035a0003c0024t0054 | a0003c0024t0035g0085a0003c0024t0054g0161 | 2 | 292 | 0.0069 | -42 | c.214 others(61): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 9/14 | chr7 | TogoVar | |||||||
| RAF1_chr3_12578601_12669117 | 12631259 | AACTGTAA others(35): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 262 | 0.0038 | -42 | c.-26 others(61): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
| RALGDS_chr9_133092722_133126240 | 133105818 | CGCCCCAG others(35): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02080.hp1 NA18955.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0042a0001c0001t0001g0128a0001c0001t0001g0205others(1): Show | 5 | 424 | 0.0118 | -42 | c.160 others(58): Show |
RALGDS | ENSG00000160271.16 | transcript | ENST00000372050.8 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
| RAMP2_chr17_42756227_42768041 | 42767639 | ATGGAAAT others(35): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 354 | 0.0028 | -42 | c.*47 others(53): Show |
RAMP2 | ENSG00000131477.11 | transcript | ENST00000253796.10 | protein_coding | 4599 | chr17 | TogoVar | |||||||
| RAP1GAP2_chr17_2791438_3042741 | 2998601 | GTGTGAGT others(35): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0135 | a0001c0002t0135g0152 | 1 | 218 | 0.0046 | -42 | c.120 others(59): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 2998712 | AATGCCAT others(35): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01074.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0012others(2): Show | a0001c0002t0001g0211a0001c0002t0004g0169a0001c0002t0012g0100others(2): Show | 5 | 218 | 0.0229 | -42 | c.120 others(59): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RAPGEF1_chr9_131571775_131745076 | 131586483 | CTCAAACA others(35): Show |
C | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0150 | 1 | 368 | 0.0027 | -42 | c.323 others(61): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | |||||||
| RAPGEF4_chr2_172730845_173057893 | 173056574 | TTTTTTTA others(35): Show |
T | downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 178 | 0.0056 | -42 | c.*48 others(53): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 3682 | chr2 | TogoVar | |||||||
| RAPH1_chr2_203428682_203540301 | 203506742 | CTATATAT others(35): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 |
a0001 | a0001c0003 | a0001c0003t0036a0001c0003t0076 | a0001c0003t0036g0229a0001c0003t0076g0230 | 2 | 290 | 0.0069 | -42 | c.1-1 others(57): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
| RASA2_chr3_141482027_141620344 | 141610341 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0009a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0009g0004a0001c0001t0009g0006a0001c0002t0001g0024others(5): Show | 8 | 280 | 0.0286 | -42 | c.251 others(59): Show |
RASA2 | ENSG00000155903.14 | transcript | ENST00000286364.9 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 113999816 | AGGGGGTC others(35): Show |
A | intron_variant | MODIFIER | HG02738.hp1 HG04228.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015a0001c0005t0001g0016 | 2 | 67 | 0.0299 | -42 | c.185 others(59): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 19/23 | chr13 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114120318 | GCCCTCCC others(35): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0052 | 1 | 67 | 0.0149 | -42 | c.55+ others(59): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RASD2_chr22_35535831_35558999 | 35543832 | CTCTGACT others(35): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 410 | 0.0024 | -42 | c.-10 others(59): Show |
RASD2 | ENSG00000100302.7 | transcript | ENST00000216127.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| RBBP8_chr18_22928328_23031486 | 22929510 | GAAGAGAC others(35): Show |
G | upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0311 | 1 | 330 | 0.0030 | -42 | c.-41 others(53): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 3817 | chr18 | TogoVar | |||||||
| RBFOX1_chr16_6014024_7718340 | 6487684 | AAAAAAAA others(35): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 68 | 0.0147 | -42 | c.-63 others(63): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 7029065 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0039a0001c0001t0008g0034 | 2 | 68 | 0.0294 | -42 | c.-15 others(61): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 7504745 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 68 | 0.0147 | -42 | c.28- others(59): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |