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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNPLA7_chr9_137454952_137555402 | 137534834 | CCTAACAG others(69): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0173 | 1 | 188 | 0.0053 | -76 | c.747 others(93): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 8/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137534885 | GGACCAAG others(69): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02280.hp2 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0033a0003c0008others(10): Show | a0001c0001t0001a0002c0033t0001a0003c0008t0001others(11): Show | a0001c0001t0001g0076 a0002c0033t0001g0103 a0003c0008t0001g0014 others(13): Show |
16 | 188 | 0.0851 | -76 | c.747 others(93): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 8/34 | chr9 | TogoVar | |||||||
POTEG_chr14_19397486_19439341 | 19432404 | ACACACAC others(69): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG02698.hp2 others(4): Show |
a0004a0005a0007others(1): Show | a0004c0005a0005c0004a0007c0013others(1): Show | a0004c0005t0005a0005c0004t0007a0007c0013t0012others(2): Show | a0004c0005t0005g0019 a0004c0005t0005g0020 a0005c0004t0007g0006 others(4): Show |
7 | 111 | 0.0631 | -76 | c.521 others(93): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39260103 | ATGCTCAC others(69): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp1 NA20300.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0019a0001c0005t0001 | a0001c0002t0019g0052 a0001c0005t0001g0002 a0001c0005t0001g0005 |
3 | 170 | 0.0177 | -76 | c.598 others(95): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPIAL4A_chr1_120884771_120895530 | 120885869 | TATATAAT others(69): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 280 | 0.0036 | -76 | c.-39 others(87): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 3901 | chr1 | TogoVar | |||||||
PPP1R9A_chr7_94902594_95301400 | 95181388 | GAGAGAAT others(69): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0007 | a0007c0022 | a0007c0022t0029 | a0007c0022t0029g0160 | 1 | 290 | 0.0035 | -76 | c.175 others(97): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131952167 | CGGGTGTG others(69): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02738.hp2 HG03195.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0259 a0001c0001t0001g0260 others(7): Show |
11 | 394 | 0.0279 | -76 | c.108 others(95): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP6R1_chr19_55224779_55264017 | 55263147 | CTTAAAAA others(69): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 378 | 0.0027 | -76 | c.-47 others(87): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 4131 | chr19 | TogoVar | |||||||
PRAG1_chr8_8312736_8391439 | 8387557 | TGAGAGGA others(69): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(139): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0043a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 others(137): Show |
142 | 336 | 0.4226 | -76 | c.-14 others(87): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 1119 | chr8 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151675698 | GGTCAGAG others(69): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02922.hp2 NA19240.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0006a0004c0008t0006 | a0001c0001t0006g0147 a0001c0001t0006g0171 a0004c0008t0006g0206 |
3 | 252 | 0.0119 | -76 | c.467 others(90): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2123201 | AGGGTCAC others(69): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 286 | 0.0035 | -76 | c.335 others(95): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 52302228 | ATATACAC others(69): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012 | 1 | 64 | 0.0156 | -76 | c.*83 others(87): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3879 | chr10 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162380420 | TATATATA others(69): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 32 | 0.0313 | -76 | c.171 others(95): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
PRR36_chr19_7863719_7879390 | 7877988 | GCATATAT others(69): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02280.hp1 others(4): Show |
a0001a0005a0011 | a0001c0008a0005c0050a0011c0017 | a0001c0008t0001a0005c0050t0001a0011c0017t0001 | a0001c0008t0001g0010 a0005c0050t0001g0040 a0011c0017t0001g0021 |
7 | 386 | 0.0181 | -76 | c.-37 others(87): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3599 | chr19 | TogoVar | |||||||
PSCA_chr8_142675495_142687725 | 142685124 | GGCTCAGG others(69): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03209.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 2 | 432 | 0.0046 | -76 | c.*29 others(87): Show |
PSCA | ENSG00000167653.5 | transcript | ENST00000301258.5 | protein_coding | 2400 | chr8 | TogoVar | |||||||
PSCA_chr8_142675495_142687725 | 142685228 | GCAGATAC others(69): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(162): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 others(5): Show |
165 | 432 | 0.3819 | -76 | c.*30 others(87): Show |
PSCA | ENSG00000167653.5 | transcript | ENST00000301258.5 | protein_coding | 2504 | chr8 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 469327 | AGGGCAGT others(69): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 others(8): Show |
11 | 346 | 0.0318 | -76 | c.285 others(93): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTGFR_chr1_78485974_78545701 | 78532390 | ATATATAT others(69): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0101 a0001c0001t0001g0338 a0001c0002t0001g0009 others(7): Show |
13 | 386 | 0.0337 | -76 | c.799 others(93): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908111 | AAAATATA others(69): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01070.hp2 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0007 | 2 | 354 | 0.0057 | -76 | c.*66 others(85): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 665 | chr1 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8934430 | TATATAAA others(69): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0005a0001c0011t0005 | a0001c0002t0005g0025 a0001c0011t0005g0021 |
2 | 34 | 0.0588 | -76 | c.-10 others(97): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972260 | AAAGAAAA others(69): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG02698.hp1 NA21309.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0002t0003a0001c0009t0003 | a0001c0002t0001g0052 a0001c0002t0003g0046 a0001c0009t0003g0104 |
3 | 334 | 0.0090 | -76 | c.150 others(95): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248650 | TACACACG others(69): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0350 | 1 | 384 | 0.0026 | -76 | c.-53 others(95): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60548430 | CAGAGTGG others(69): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG03486.hp2 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0053 a0001c0001t0003g0072 a0001c0001t0014g0003 |
3 | 358 | 0.0084 | -76 | c.47- others(93): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
RALGAPB_chr20_38467843_38583858 | 38490650 | GCATGCAC others(69): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 a0001c0001t0006g0029 a0001c0001t0006g0030 others(2): Show |
6 | 216 | 0.0278 | -76 | c.186 others(93): Show |
RALGAPB | ENSG00000170471.15 | transcript | ENST00000262879.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113976139 | ACCCACCA others(69): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG02300.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0006g0011 others(1): Show |
4 | 67 | 0.0597 | -76 | c.*31 others(87): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1643 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114006961 | CCACTCCT others(69): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015 | 1 | 67 | 0.0149 | -76 | c.174 others(93): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114098934 | GGACCACA others(69): Show |
G | intron_variant | MODIFIER | HG01943.hp1 HG01981.hp2 HG01993.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0049 others(8): Show |
11 | 67 | 0.1642 | -76 | c.56- others(93): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114111233 | GCCGAGTT others(69): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG02148.hp2 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0002t0002g0031 others(5): Show |
8 | 67 | 0.1194 | -76 | c.55+ others(93): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114111452 | CAGCTGCA others(69): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0002c0004t0004 | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0028 others(3): Show |
6 | 67 | 0.0896 | -76 | c.55+ others(93): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180113174 | GGGATGGA others(69): Show |
G | intron_variant | MODIFIER | NA18944.hp2 NA18964.hp1 NA19012.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0009 | a0001c0001t0001g0276 a0001c0001t0001g0322 a0001c0001t0006g0041 others(1): Show |
4 | 370 | 0.0108 | -76 | c.117 others(95): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 11/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180113192 | CAGGATGG others(69): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0204 | 1 | 370 | 0.0027 | -76 | c.117 others(95): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 11/13 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180113788 | GGATGGAG others(69): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0306 | 1 | 370 | 0.0027 | -76 | c.117 others(93): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 11/13 | chr5 | TogoVar | |||||||
RASSF3_chr12_64605495_64702564 | 64702266 | TAGGAGTT others(69): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0107 | 1 | 370 | 0.0027 | -76 | c.*73 others(87): Show |
RASSF3 | ENSG00000153179.14 | transcript | ENST00000542104.6 | protein_coding | 4703 | chr12 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7008960 | CCCTCCCT others(69): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0021 | 1 | 68 | 0.0147 | -76 | c.-15 others(95): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79203324 | TGAAGGGG others(69): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01175.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0071 others(6): Show |
9 | 154 | 0.0584 | -76 | c.-34 others(95): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79203522 | CGTGTAAG others(69): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0049 | 1 | 154 | 0.0065 | -76 | c.-34 others(95): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
RBM19_chr12_113817057_113971325 | 113872114 | AGTGAGGA others(69): Show |
A | intron_variant | MODIFIER | NA18995.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0016 | 1 | 356 | 0.0028 | -76 | c.255 others(97): Show |
RBM19 | ENSG00000122965.11 | transcript | ENST00000261741.10 | protein_coding | 21/23 | chr12 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8668948 | GTGTGTGT others(69): Show |
G | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0041 | 1 | 204 | 0.0049 | -76 | c.-14 others(97): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RGPD2_chr2_87750960_87830796 | 87778765 | TTTTCTTC others(69): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03942.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0001 a0001c0002t0004g0043 |
3 | 176 | 0.0171 | -76 | c.490 others(95): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 20/22 | chr2 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129533934 | GAGTCCCA others(69): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0012 | 1 | 404 | 0.0025 | -76 | c.*21 others(85): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 5/5 | 217 | chr3 | TogoVar | ||||||
RHPN1_chr8_143363876_143389221 | 143372995 | CGGGTTCC others(69): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0006 | a0006c0011 | a0006c0011t0030 | a0006c0011t0030g0086 | 1 | 426 | 0.0024 | -76 | c.61- others(91): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RHPN1_chr8_143363876_143389221 | 143373368 | GGGGGATG others(69): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0157 | 1 | 426 | 0.0024 | -76 | c.61- others(91): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RILPL1_chr12_123465054_123538719 | 123521598 | AATATATA others(69): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0183 | 1 | 210 | 0.0048 | -76 | c.460 others(93): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130532063 | GTACGTCT others(69): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01074.hp2 others(28): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0001g0025 a0001c0001t0001g0083 a0001c0001t0001g0127 others(28): Show |
31 | 180 | 0.1722 | -76 | c.-21 others(97): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130532329 | GTACGTCT others(69): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 180 | 0.0056 | -76 | c.-21 others(97): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130532675 | GTCTAATG others(69): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01346.hp1 others(17): Show |
a0001a0018 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0119 others(17): Show |
20 | 180 | 0.1111 | -76 | c.-21 others(97): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130532979 | GTCTAATG others(69): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 |
a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0066 a0005c0015t0001g0133 |
2 | 180 | 0.0111 | -76 | c.-21 others(97): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130539914 | AGATGAGG others(69): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02630.hp2 others(2): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0032a0002c0029others(2): Show | a0001c0002t0002a0001c0032t0001a0002c0029t0001others(2): Show | a0001c0002t0002g0060 a0001c0032t0001g0026 a0002c0029t0001g0012 others(2): Show |
5 | 180 | 0.0278 | -76 | c.-21 others(97): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130540028 | AGATGAGG others(69): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(62): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0072 others(62): Show |
65 | 180 | 0.3611 | -76 | c.-21 others(97): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RNF148_chr7_122696668_122707922 | 122705450 | ATATTATC others(69): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 432 | 0.0046 | -76 | c.-27 others(87): Show |
RNF148 | ENSG00000235631.2 | transcript | ENST00000434824.2 | protein_coding | 2529 | chr7 | TogoVar |