| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PWWP2B_chr10_132392200_132422859 | 132403992 | TAGGACGG others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(177): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(123): Show | 180 | 374 | 0.4813 | -52 | c.126 others(67): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PWWP3A_chr19_1349959_1383429 | 1372257 | GCTCAGCA others(45): Show |
G | intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0121 | 1 | 412 | 0.0024 | -52 | c.198 others(69): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1639031 | CGGGTCTC others(45): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(265): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0034others(265): Show | 268 | 322 | 0.8323 | -52 | c.407 others(68): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 20/22 | chr2 | TogoVar | ||||||
| RAB26_chr16_2143625_2159165 | 2157093 | ACCCCTTC others(45): Show |
A | downstream_gene_variant | MODIFIER | HG02300.hp2 HG02895.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0072a0001c0001t0006g0044a0001c0001t0008g0024 | 4 | 384 | 0.0104 | -52 | c.*36 others(63): Show |
RAB26 | ENSG00000167964.13 | transcript | ENST00000210187.11 | protein_coding | 2929 | chr16 | TogoVar | ||||||
| RAB40B_chr17_82649973_82703698 | 82671657 | TGTACTCA others(45): Show |
T | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0104 | 1 | 338 | 0.0030 | -52 | c.143 others(69): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| RAB5C_chr17_42119979_42159989 | 42144868 | AGTGAGCC others(45): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0222 | 2 | 306 | 0.0065 | -52 | c.-89 others(70): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
| RASA1_chr5_87262883_87396916 | 87287762 | GCCATAGA others(45): Show |
G | intron_variant | MODIFIER | NA19074.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0280 | 1 | 282 | 0.0036 | -52 | c.539 others(71): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RB1_chr13_48298751_48486890 | 48459927 | TTCTTTCT others(45): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002a0001c0001t0003g0120a0001c0001t0003g0121 | 4 | 306 | 0.0131 | -52 | c.210 others(68): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RBBP8NL_chr20_62405237_62432539 | 62406703 | ACCTCTGT others(45): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp1 NA19007.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0268a0002c0002t0001g0006 | 2 | 432 | 0.0046 | -52 | c.*41 others(63): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3533 | chr20 | TogoVar | ||||||
| RBBP8NL_chr20_62405237_62432539 | 62417824 | CCCCCCCA others(45): Show |
C | intron_variant | MODIFIER | HG02738.hp2 NA19058.hp1 |
a0003a0013 | a0003c0003a0013c0015 | a0003c0003t0002a0013c0015t0002 | a0003c0003t0002g0125a0013c0015t0002g0132 | 2 | 432 | 0.0046 | -52 | c.104 others(67): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | ||||||
| RBBP8NL_chr20_62405237_62432539 | 62417877 | CCCCCCCA others(45): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0287a0001c0001t0002g0170 | 2 | 432 | 0.0046 | -52 | c.104 others(67): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | ||||||
| RBFA_chr18_80029434_80055651 | 80032972 | GTTTTTCC others(45): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(176): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0005a0001c0007others(4): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(29): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0005others(74): Show | 179 | 414 | 0.4324 | -52 | c.-15 others(63): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 1461 | chr18 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 7009060 | CCCTTCCT others(45): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01099.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0063a0001c0001t0002g0004others(5): Show | 8 | 68 | 0.1177 | -52 | c.-15 others(71): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7186239 | TATATAAA others(45): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0037 | a0001c0001t0026g0051a0001c0001t0037g0029 | 2 | 68 | 0.0294 | -52 | c.27+ others(71): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 7186267 | CATAAACA others(45): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03579.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0015others(2): Show | a0001c0001t0005g0058a0001c0001t0014g0046a0001c0001t0015g0045others(2): Show | 5 | 68 | 0.0735 | -52 | c.27+ others(71): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_7327845_7718340 | 7504735 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG03017.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0007a0001c0006t0001 | a0001c0004t0007g0096a0001c0006t0001g0007 | 2 | 234 | 0.0086 | -52 | c.88- others(69): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX3_chr17_79084345_79616051 | 79349846 | GGAATGGG others(45): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 154 | 0.0065 | -52 | c.-17 others(73): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
| RBM47_chr4_40418280_40634864 | 40592953 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0009 | a0002c0009t0008 | a0002c0009t0008g0077 | 1 | 278 | 0.0036 | -52 | c.-24 others(73): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
| RBPMS_chr8_30379541_30577256 | 30421054 | TTGTGCTG others(45): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0115 | 1 | 304 | 0.0033 | -52 | c.66+ others(69): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| RECQL4_chr8_144506288_144522833 | 144522160 | TGCCGGCC others(45): Show |
T | upstream_gene_variant | MODIFIER | NA18947.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 412 | 0.0024 | -52 | c.-44 others(63): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 4328 | chr8 | TogoVar | ||||||
| RETREG1_chr5_16468053_16621997 | 16524914 | GCGGGGGA others(45): Show |
G | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 294 | 0.0034 | -52 | c.458 others(71): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
| REV1_chr2_99395477_99495017 | 99400191 | CAGTAGAG others(45): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG03486.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0125a0003c0003t0001g0126 | 2 | 324 | 0.0062 | -52 | c.*99 others(62): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 285 | chr2 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111303671 | CTTTTTTT others(45): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 288 | 0.0035 | -52 | c.925 others(71): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111422611 | TACACATA others(45): Show |
T | intron_variant | MODIFIER | HG03831.hp1 NA18974.hp1 NA20805.hp1 |
a0002a0017 | a0002c0002a0017c0030 | a0002c0002t0001a0017c0030t0001 | a0002c0002t0001g0152a0002c0002t0001g0228a0017c0030t0001g0227 | 3 | 288 | 0.0104 | -52 | c.140 others(69): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | ||||||
| RGN_chrX_47073443_47098313 | 47074224 | AAAGAAAG others(45): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 304 | 0.0033 | -52 | c.-51 others(63): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4218 | chrX | TogoVar | ||||||
| RGN_chrX_47073443_47098313 | 47074228 | AAAGAAAG others(45): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp2 NA18941.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0040a0001c0001t0001g0048a0001c0001t0003g0299 | 3 | 304 | 0.0099 | -52 | c.-51 others(63): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4214 | chrX | TogoVar | ||||||
| RGPD2_chr2_87750960_87830796 | 87825402 | CAGGCCGA others(45): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0079a0001c0001t0001g0080others(3): Show | 6 | 176 | 0.0341 | -52 | c.72+ others(65): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3309220 | GAGGAGGA others(45): Show |
G | intron_variant | MODIFIER | NA18945.hp1 NA18959.hp1 NA18986.hp1 others(1): Show |
a0007 | a0007c0024a0007c0025 | a0007c0024t0001a0007c0025t0001 | a0007c0024t0001g0281a0007c0024t0001g0282a0007c0025t0001g0279others(1): Show | 4 | 312 | 0.0128 | -52 | c.-10 others(71): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3341632 | GGGGGAGG others(45): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03239.hp1 |
a0001a0014 | a0001c0021a0014c0033 | a0001c0021t0001a0014c0033t0001 | a0001c0021t0001g0004a0014c0033t0001g0271 | 2 | 312 | 0.0064 | -52 | c.188 others(71): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RHCG_chr15_89466407_89501583 | 89474796 | TCCTGCCT others(45): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00738.hp1 others(35): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0014 | a0001c0001t0002a0002c0002t0002a0002c0002t0005others(1): Show | a0001c0001t0002g0023a0001c0001t0002g0064a0001c0001t0002g0124others(32): Show | 38 | 360 | 0.1056 | -52 | c.131 others(71): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 9/10 | chr15 | TogoVar | ||||||
| RHEB_chr7_151461012_151524895 | 151520834 | TGTTTGGC others(45): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 364 | 0.0028 | -52 | c.-13 others(63): Show |
RHEB | ENSG00000106615.10 | transcript | ENST00000262187.10 | protein_coding | 940 | chr7 | TogoVar | ||||||
| RHOC_chr1_112696131_112712127 | 112706462 | CACCACAC others(45): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01256.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 5 | 428 | 0.0117 | -52 | c.-77 others(67): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
| RIGI_chr9_32450302_32531196 | 32504747 | TAAAATAT others(45): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01891.hp2 others(3): Show |
a0005 | a0005c0011a0005c0018 | a0005c0011t0005a0005c0018t0008 | a0005c0011t0005g0006a0005c0011t0005g0007a0005c0011t0005g0254others(1): Show | 6 | 344 | 0.0174 | -52 | c.107 others(69): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130415608 | ATCTCTCT others(45): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(58): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0029others(58): Show | 61 | 180 | 0.3389 | -52 | c.323 others(71): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 17/22 | chr12 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130667106 | AAAAGGAA others(45): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 180 | 0.0056 | -52 | c.-35 others(73): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
| RIN2_chr20_19753258_20007456 | 19844646 | TTCTTCTT others(45): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0041 | a0001c0001t0001g0167a0001c0001t0009g0130a0001c0002t0041g0169 | 3 | 276 | 0.0109 | -52 | c.-36 others(71): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RIN3_chr14_92508781_92693994 | 92640424 | ATTTGCTG others(45): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02135.hp2 HG04184.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0036a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0036t0001others(2): Show | a0001c0001t0001g0123a0001c0001t0002g0055a0001c0036t0001g0130others(3): Show | 6 | 334 | 0.0180 | -52 | c.441 others(67): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RNASET2_chr6_166917113_166961550 | 166955331 | GCACGCAC others(45): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0135 | a0001c0003t0135g0234 | 1 | 346 | 0.0029 | -52 | c.86+ others(65): Show |
RNASET2 | ENSG00000026297.17 | transcript | ENST00000508775.6 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
| RNASET2_chr6_166917113_166961550 | 166955343 | ACACGCAC others(45): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0049 | 1 | 346 | 0.0029 | -52 | c.86+ others(65): Show |
RNASET2 | ENSG00000026297.17 | transcript | ENST00000508775.6 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
| RNF169_chr11_74743849_74847413 | 74785158 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02809.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0016a0001c0001t0038a0002c0003t0010others(1): Show | a0001c0001t0016g0314a0001c0001t0016g0315a0001c0001t0016g0316others(9): Show | 13 | 354 | 0.0367 | -52 | c.503 others(69): Show |
RNF169 | ENSG00000166439.6 | transcript | ENST00000299563.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| RNF38_chr9_36331400_36405269 | 36341815 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0018 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0041others(34): Show | 39 | 402 | 0.0970 | -52 | c.148 others(69): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 11/11 | chr9 | TogoVar | ||||||
| RNFT2_chr12_116733315_116858631 | 116841804 | TAAATATA others(45): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0027 | 1 | 268 | 0.0037 | -52 | c.120 others(71): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RNGTT_chr6_88604897_88968618 | 88947831 | CTGAGAAG others(45): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 220 | 0.0046 | -52 | c.65- others(67): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 1/15 | chr6 | TogoVar | ||||||
| ROBO1_chr3_78592239_79772998 | 78711348 | CTCCTTCC others(45): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0008 | 1 | 44 | 0.0227 | -52 | c.104 others(71): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 8/30 | chr3 | TogoVar | ||||||
| ROBO1_chr3_78592239_79772998 | 78711350 | CCTTCCTT others(45): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0009a0002c0004t0007g0010 | 2 | 44 | 0.0455 | -52 | c.104 others(71): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 8/30 | chr3 | TogoVar | ||||||
| ROBO2_chr3_77035099_77654964 | 77108251 | CATATATA others(45): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG04228.hp1 NA18960.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0004g0024a0001c0001t0007g0158a0001c0001t0008g0032others(1): Show | 4 | 160 | 0.0250 | -52 | c.388 others(70): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ROBO2_chr3_77035099_77654964 | 77293999 | CGGGTACA others(45): Show |
C | intron_variant | MODIFIER | NA18959.hp1 NA19005.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0002t0001 | a0001c0001t0005g0145a0001c0001t0009g0089a0001c0002t0001g0039 | 3 | 160 | 0.0188 | -52 | c.389 others(73): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ROPN1B_chr3_125964178_125988454 | 125973521 | TATACGTT others(45): Show |
T | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 448 | 0.0022 | -52 | c.116 others(69): Show |
ROPN1B | ENSG00000114547.10 | transcript | ENST00000514116.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RORA_chr15_60483284_61234302 | 60516185 | TTATATAT others(45): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0048 | a0001c0001t0007g0028a0001c0001t0048g0022 | 2 | 118 | 0.0170 | -52 | c.283 others(69): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
| RORA_chr15_60483284_61234302 | 60597571 | TATACACA others(45): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0117 | 1 | 118 | 0.0085 | -52 | c.197 others(71): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar |