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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPARGC1B_chr5_149725310_149860022 | 149809236 | GATAGATA others(46): Show |
G | intron_variant | MODIFIER | HG02523.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0003a0002c0008t0008 | a0001c0001t0003g0123 a0002c0008t0008g0191 |
2 | 318 | 0.0063 | -53 | c.79- others(70): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583474 | GAAAGAAA others(46): Show |
G | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02257.hp2 HG03516.hp2 others(3): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0005 | a0002c0002t0002a0003c0003t0002a0005c0005t0005 | a0002c0002t0002g0000 a0003c0003t0002g0000 a0005c0005t0005g0000 |
6 | 446 | 0.0135 | -53 | c.-42 others(62): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 373 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112720244 | GCTCCCTC others(46): Show |
G | upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | -53 | c.-49 others(64): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 4913 | chr1 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38895779 | TCTCCTCC others(46): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0181 a0001c0001t0006g0193 |
2 | 242 | 0.0083 | -53 | c.467 others(67): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38895793 | CCTTCCTT others(46): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02280.hp1 NA18990.hp2 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0003a0001c0002t0004a0002c0010t0004 | a0001c0002t0003g0067 a0001c0002t0004g0176 a0002c0010t0004g0014 |
3 | 227 | 0.0132 | -53 | c.467 others(67): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38895901 | CCTTCCTT others(46): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0211 | 1 | 242 | 0.0041 | -53 | c.467 others(68): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 343746 | GAGACGCG others(46): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 24 | 0.0417 | -53 | c.103 others(72): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46391946 | CTAGGGAA others(46): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 others(7): Show |
10 | 392 | 0.0255 | -53 | c.*16 others(64): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 972 | chr19 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151841654 | TGATGGTA others(46): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(93): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0031 others(93): Show |
96 | 250 | 0.3840 | -53 | c.114 others(72): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151863004 | TGCTGGTA others(46): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 250 | 0.0040 | -53 | c.114 others(72): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCE_chr2_45646675_46192990 | 45744482 | TTTCTTTT others(46): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02698.hp1 NA19240.hp2 |
a0001 | a0001c0002a0001c0006a0001c0010 | a0001c0002t0001a0001c0006t0001a0001c0010t0001 | a0001c0002t0001g0023 a0001c0006t0001g0046 a0001c0010t0001g0128 |
3 | 164 | 0.0183 | -53 | c.348 others(72): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122146 | TTAGGGTC others(46): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 267 | 0.0037 | -53 | c.335 others(72): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 64021645 | ATATGCAT others(46): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 292 | 0.0034 | -53 | c.164 others(72): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 64021883 | CGTGTCTG others(46): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 292 | 0.0034 | -53 | c.164 others(70): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PRPF8_chr17_1645629_1689867 | 1689454 | GGGGGCTG others(46): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 290 | 0.0034 | -53 | c.-47 others(64): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 4588 | chr17 | TogoVar | |||||||
PRTN3_chr19_835999_853175 | 851270 | CCGACACA others(46): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 414 | 0.0024 | -53 | c.*33 others(64): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3096 | chr19 | TogoVar | |||||||
PRTN3_chr19_835999_853175 | 851473 | TGAGGCAG others(46): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0090 | 1 | 414 | 0.0024 | -53 | c.*35 others(64): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3299 | chr19 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865240 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0174 | 1 | 225 | 0.0044 | -53 | c.163 others(72): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865242 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0148 | 1 | 225 | 0.0044 | -53 | c.163 others(72): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSORS1C1_chr6_31109800_31145092 | 31132407 | AGCTACTC others(46): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp2 HG00741.hp2 others(16): Show |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0003 | a0004c0005t0001g0204 a0004c0005t0003g0011 a0004c0005t0003g0016 others(8): Show |
19 | 448 | 0.0424 | -53 | c.13+ others(68): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19766011 | ATAGGAAA others(46): Show |
A | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 256 | 0.0039 | -53 | c.674 others(70): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
PTGS1_chr9_122366024_122400703 | 122391309 | CATATACA others(46): Show |
C | intron_variant | MODIFIER | HG01109.hp1 NA19240.hp2 |
a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0131 a0001c0013t0010g0204 |
2 | 330 | 0.0061 | -53 | c.144 others(70): Show |
PTGS1 | ENSG00000095303.17 | transcript | ENST00000362012.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908135 | TTATATTA others(46): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042 | a0001c0001t0001g0248 a0001c0001t0001g0289 a0001c0001t0042g0250 |
3 | 258 | 0.0116 | -53 | c.*66 others(62): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 664 | chr1 | TogoVar | ||||||
PTPRA_chr20_2868481_3043669 | 2910143 | CATATATA others(46): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0292 a0002c0002t0001g0323 |
2 | 354 | 0.0056 | -53 | c.-12 others(74): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61818824 | AAGTGAAA others(46): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01071.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0044 others(36): Show |
39 | 94 | 0.4149 | -53 | c.190 others(72): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTTG1IP2_chr7_90464639_90518397 | 90498258 | CTCATGAG others(46): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 382 | 0.0026 | -53 | c.*50 others(70): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135141874 | CTATTTCT others(46): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 278 | 0.0036 | -53 | c.192 others(72): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48427566 | TTGGGGAG others(46): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00673.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 others(25): Show |
29 | 298 | 0.0973 | -53 | c.169 others(74): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48427725 | TTGGGGAG others(46): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 289 | 0.0035 | -53 | c.169 others(74): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48427990 | CTGGGGAG others(46): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02155.hp1 HG02165.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(24): Show |
28 | 146 | 0.1918 | -53 | c.169 others(74): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48427990 | CTGGGGAG others(46): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(80): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(80): Show |
83 | 201 | 0.4129 | -53 | c.169 others(74): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 17/26 | chr13 | TogoVar | |||||||
RBBP8NL_chr20_62405237_62432539 | 62417505 | AGCCCCCC others(46): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(207): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0001c0024others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
210 | 426 | 0.4930 | -53 | c.105 others(68): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | |||||||
RBBP8NL_chr20_62405237_62432539 | 62417853 | CACGTCTG others(46): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0001c0024others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(118): Show |
200 | 424 | 0.4717 | -53 | c.104 others(68): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | |||||||
RBBP8NL_chr20_62405237_62432539 | 62417927 | ACGCCCCC others(46): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03130.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0013a0001c0011t0026 | a0001c0001t0001g0056 a0001c0001t0013g0067 a0001c0001t0013g0290 others(1): Show |
5 | 400 | 0.0125 | -53 | c.104 others(68): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 6636760 | TATATATA others(46): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0053 others(34): Show |
37 | 66 | 0.5606 | -53 | c.-63 others(72): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6780357 | ATATACAT others(46): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01099.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0035 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0017g0014 others(1): Show |
4 | 64 | 0.0625 | -53 | c.-16 others(74): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBM20_chr10_110639336_110844468 | 110720637 | GTCCCACC others(46): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp1 others(82): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0130 others(82): Show |
85 | 266 | 0.3195 | -53 | c.192 others(72): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RBM33_chr7_155639661_155786480 | 155786150 | ATCTTCTC others(46): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0115 | 1 | 304 | 0.0033 | -53 | c.*11 others(66): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 4671 | chr7 | TogoVar | |||||||
RCSD1_chr1_167625232_167713696 | 167693872 | TTTTGGAA others(46): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0005 | a0005c0012 | a0005c0012t0011 | a0005c0012t0011g0234 | 1 | 348 | 0.0029 | -53 | c.271 others(68): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55053246 | CGATCTTC others(46): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0186 | 1 | 376 | 0.0027 | -53 | c.340 others(70): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
REEP1_chr2_86208993_86342626 | 86340947 | TGGGATTA others(46): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0088 | 1 | 318 | 0.0031 | -53 | c.-34 others(64): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 3322 | chr2 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37669153 | CGGCCAGC others(46): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0059 | a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0002g0252 others(1): Show |
4 | 322 | 0.0124 | -53 | c.88+ others(70): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RETREG1_chr5_16468053_16621997 | 16525257 | GGCCCCAA others(46): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(67): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0137 others(67): Show |
70 | 289 | 0.2422 | -53 | c.458 others(72): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3309063 | AGAGGAGC others(46): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(49): Show |
a0001a0002a0020others(1): Show | a0001c0001a0001c0007a0001c0013others(6): Show | a0001c0001t0001a0001c0007t0001a0001c0013t0001others(7): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0037 others(48): Show |
52 | 298 | 0.1745 | -53 | c.-10 others(72): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3309288 | CTCGGGAA others(46): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01981.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0012others(3): Show | a0001c0001t0001a0001c0002t0001a0005c0012t0001others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0002t0001g0222 others(10): Show |
13 | 310 | 0.0419 | -53 | c.-10 others(72): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3309521 | TCTGAGGA others(46): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG04199.hp1 NA18946.hp1 others(1): Show |
a0001a0014 | a0001c0006a0001c0010a0014c0045 | a0001c0006t0001a0001c0010t0001a0014c0045t0001 | a0001c0006t0001g0190 a0001c0010t0001g0189 a0001c0010t0001g0198 others(1): Show |
4 | 301 | 0.0133 | -53 | c.-10 others(72): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3309541 | AGAGGAGC others(46): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(66): Show |
a0001a0002a0008others(1): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0002t0001g0099 a0001c0002t0001g0144 a0001c0002t0001g0267 others(66): Show |
69 | 259 | 0.2664 | -53 | c.-10 others(72): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3309662 | CTGGAATG others(46): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03239.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0300 a0001c0003t0001g0301 |
2 | 310 | 0.0065 | -53 | c.-10 others(72): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3310103 | TCTGAGGA others(46): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG02145.hp2 others(7): Show |
a0005 | a0005c0012a0005c0051a0005c0052others(1): Show | a0005c0012t0001a0005c0051t0001a0005c0052t0001others(1): Show | a0005c0012t0001g0150 a0005c0012t0001g0151 a0005c0012t0001g0153 others(7): Show |
10 | 307 | 0.0326 | -53 | c.-10 others(72): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3440721 | CCCCCAGG others(46): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01975.hp1 others(26): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(9): Show | a0001c0001t0001g0057 a0001c0002t0001g0140 a0001c0002t0001g0222 others(26): Show |
29 | 310 | 0.0935 | -53 | c.*10 others(64): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 809 | chr4 | TogoVar |