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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP5C_chr19_46342087_46395975 | 46389365 | ACACACAC others(14): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 394 | 0.0025 | -21 | c.135 others(38): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50339053 | TTATGTGG others(14): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG01255.hp2 others(11): Show |
a0001a0004a0007 | a0001c0001a0001c0029a0004c0009others(2): Show | a0001c0001t0001a0001c0029t0016a0004c0009t0004others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 others(11): Show |
14 | 340 | 0.0412 | -21 | c.-46 others(32): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 4273 | chr22 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50340531 | ATGTGGTG others(14): Show |
A | upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 340 | 0.0029 | -21 | c.-31 others(32): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2795 | chr22 | TogoVar | |||||||
PPRC1_chr10_102128040_102155333 | 102142400 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01928.hp1 others(51): Show |
a0002a0023a0029others(1): Show | a0002c0002a0002c0007a0002c0015others(3): Show | a0002c0002t0001a0002c0007t0001a0002c0015t0001others(3): Show | a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0019 others(17): Show |
54 | 388 | 0.1392 | -21 | c.349 others(38): Show |
PPRC1 | ENSG00000148840.11 | transcript | ENST00000278070.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPWD1_chr5_65558296_65592549 | 65573533 | TTTTTTTT others(14): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01516.hp1 HG02004.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0079 others(5): Show |
8 | 384 | 0.0208 | -21 | c.969 others(38): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
PRC1_chr15_90961040_90999535 | 90964822 | CAAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0124 |
2 | 376 | 0.0053 | -21 | c.*22 others(32): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 1217 | chr15 | TogoVar | |||||||
PRC1_chr15_90961040_90999535 | 90969762 | ACATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(97): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0298 a0001c0002t0001g0002 a0001c0002t0001g0003 others(81): Show |
100 | 376 | 0.2660 | -21 | c.157 others(38): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 12/14 | chr15 | TogoVar | |||||||
PRDM10_chr11_129894711_130007835 | 129927176 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00642.hp1 others(82): Show |
a0001a0004a0006others(3): Show | a0001c0003a0001c0011a0001c0012others(16): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(29): Show | a0001c0003t0001g0002 a0001c0003t0001g0048 a0001c0003t0001g0115 others(81): Show |
85 | 326 | 0.2607 | -21 | c.153 others(40): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 11/20 | chr11 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806379 | TCACCACC others(14): Show |
T | intron_variant | MODIFIER | HG02698.hp2 HG03688.hp2 HG03834.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0009a0001c0006t0009a0001c0006t0021 | a0001c0001t0009g0099 a0001c0001t0009g0186 a0001c0001t0009g0215 others(4): Show |
7 | 406 | 0.0172 | -21 | c.265 others(40): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41830667 | CACCACAC others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(215): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0010a0001c0001t0016a0001c0002t0002others(65): Show | a0001c0001t0010g0271 a0001c0001t0016g0145 a0001c0001t0016g0147 others(212): Show |
218 | 406 | 0.5370 | -21 | c.136 others(40): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 11/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41844742 | AGAGTCCC others(14): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp2 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0016a0001c0002t0002a0001c0002t0027others(25): Show | a0001c0001t0016g0145 a0001c0002t0002g0048 a0001c0002t0002g0073 others(61): Show |
65 | 406 | 0.1601 | -21 | c.640 others(38): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3341061 | GCCCCCTG others(14): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0010 | a0001c0001a0001c0021a0002c0003others(1): Show | a0001c0001t0011a0001c0001t0013a0001c0001t0014others(6): Show | a0001c0001t0011g0022 a0001c0001t0013g0002 a0001c0001t0014g0069 others(6): Show |
9 | 210 | 0.0429 | -21 | c.439 others(40): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM4_chr12_107727871_107766137 | 107757710 | TTGCACCA others(14): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG02027.hp2 HG02071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0041 others(6): Show |
16 | 390 | 0.0410 | -21 | c.12- others(34): Show |
PRDM4 | ENSG00000110851.12 | transcript | ENST00000228437.10 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
PRDM8_chr4_80192503_80209329 | 80198980 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02027.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004a0001c0003t0012 | a0001c0001t0004g0098 a0001c0003t0004g0029 a0001c0003t0004g0048 others(2): Show |
8 | 420 | 0.0191 | -21 | c.-2- others(36): Show |
PRDM8 | ENSG00000152784.16 | transcript | ENST00000415738.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRDM8_chr4_80192503_80209329 | 80206085 | AGCAGCTT others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 420 | 0.0024 | -21 | c.*25 others(32): Show |
PRDM8 | ENSG00000152784.16 | transcript | ENST00000415738.3 | protein_coding | 1757 | chr4 | TogoVar | |||||||
PRELID2_chr5_145751344_145840342 | 145788161 | GCTGTAGA others(14): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02559.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0134 a0001c0001t0001g0135 others(8): Show |
11 | 258 | 0.0426 | -21 | c.474 others(38): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48746990 | ACACACAC others(14): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0193 | 1 | 268 | 0.0037 | -21 | c.291 others(36): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 2/39 | chr20 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48828528 | CCTGGGCA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0019 |
2 | 268 | 0.0075 | -21 | c.-68 others(30): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 530 | chr20 | TogoVar | |||||||
PRG4_chr1_186291279_186319567 | 186307328 | CCTGCACC others(14): Show |
C | conservative_inframe_deletion | MODERATE | NA18957.hp2 | a0028 | a0028c0025 | a0028c0025t0003 | a0028c0025t0003g0133 | 1 | 428 | 0.0023 | -21 | c.162 others(30): Show |
p.Thr others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 1669/5049 | 1624/4215 | 542/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRKACA_chr19_14086688_14122762 | 14109962 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01358.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 others(1): Show |
4 | 358 | 0.0112 | -21 | c.47- others(36): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKACB_chr1_84139271_84243498 | 84179105 | CAATATAA others(14): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 320 | 0.0031 | -21 | c.188 others(34): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151711260 | AGAGTGCT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 others(118): Show |
121 | 252 | 0.4802 | -21 | c.467 others(40): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855111 | CCTACACA others(14): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0083 |
2 | 252 | 0.0079 | -21 | c.114 others(40): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151873953 | CTGATGTA others(14): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0009g0002 a0001c0001t0009g0004 a0001c0001t0009g0005 others(3): Show |
6 | 252 | 0.0238 | -21 | c.114 others(38): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151874258 | GTATATGT others(14): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(29): Show |
a0001a0008 | a0001c0001a0001c0010a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0002g0133 others(29): Show |
32 | 252 | 0.1270 | -21 | c.114 others(38): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151874375 | GATGTATA others(14): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 252 | 0.0040 | -21 | c.114 others(38): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66799577 | GTGGTGAT others(14): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 178 | 0.0056 | -21 | c.185 others(40): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45884970 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 | 1 | 168 | 0.0060 | -21 | c.412 others(40): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
PRKCE_chr2_45646675_46192990 | 45958812 | ATATATTT others(14): Show |
A | intron_variant | MODIFIER | NA19011.hp2 NA19064.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0014 a0001c0001t0008g0097 a0001c0001t0008g0156 |
3 | 168 | 0.0179 | -21 | c.413 others(40): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 46085736 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(37): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 others(37): Show |
40 | 168 | 0.2381 | -21 | c.143 others(38): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878645 | AAAAAAAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0049 | 1 | 362 | 0.0028 | -21 | c.-38 others(32): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3551 | chr19 | TogoVar | |||||||
PRKCG_chr19_53877197_53912652 | 53896376 | GATTATTA others(14): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 362 | 0.0028 | -21 | c.940 others(38): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2100668 | GGCTGGTG others(14): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG03041.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022 |
3 | 286 | 0.0105 | -21 | c.335 others(40): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123285 | TCACGGTG others(14): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001 | a0001c0001t0013g0151 a0001c0002t0001g0247 |
2 | 286 | 0.0070 | -21 | c.335 others(40): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2123883 | CACGGCGG others(14): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01433.hp1 others(16): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0004a0001c0003t0001 | a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0091 others(16): Show |
19 | 286 | 0.0664 | -21 | c.335 others(40): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKD1_chr14_29571479_29932847 | 29707224 | TAGAAGTT others(14): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0137 | 1 | 156 | 0.0064 | -21 | c.403 others(40): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
PRKD1_chr14_29571479_29932847 | 29808373 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0155 | 1 | 156 | 0.0064 | -21 | c.265 others(40): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKD1_chr14_29571479_29932847 | 29921714 | TAGGAATC others(14): Show |
T | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 156 | 0.0064 | -21 | c.264 others(38): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51601721 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 64 | 0.0156 | -21 | c.592 others(42): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 52036575 | GCCAAGGA others(14): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 64 | 0.0156 | -21 | c.763 others(40): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 52171123 | GTGTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00738.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0046 others(10): Show |
13 | 64 | 0.2031 | -21 | c.107 others(40): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161342553 | TGTGTCTC others(14): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0018 | 1 | 32 | 0.0313 | -21 | c.*75 others(32): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 4863 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161573754 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0019 | 1 | 32 | 0.0313 | -21 | c.872 others(38): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161703839 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0002a0001c0001t0008a0001c0003t0001others(1): Show | a0001c0001t0002g0023 a0001c0001t0008g0010 a0001c0003t0001g0032 others(1): Show |
4 | 32 | 0.1250 | -21 | c.871 others(40): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162049225 | TTCTAAGT others(14): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 1 | 32 | 0.0313 | -21 | c.618 others(38): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162553828 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01361.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0030 others(6): Show |
9 | 32 | 0.2813 | -21 | c.8-1 others(38): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162638640 | TTCTTCCA others(14): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 32 | 0.0313 | -21 | c.7+8 others(36): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3636971 | AAAAGGGG others(14): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0140 | a0001c0002t0140g0225 | 1 | 227 | 0.0044 | -21 | c.719 others(38): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRLR_chr5_35050702_35235487 | 35090791 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01168.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0070 a0001c0001t0002g0008 a0001c0001t0002g0024 others(46): Show |
49 | 214 | 0.2290 | -21 | c.-43 others(38): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
PROK1_chr1_110446149_110462358 | 110446821 | TGAGACAG others(14): Show |
T | upstream_gene_variant | MODIFIER | NA18986.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 456 | 0.0044 | -21 | c.-43 others(32): Show |
PROK1 | ENSG00000143125.6 | transcript | ENST00000271331.4 | protein_coding | 4327 | chr1 | TogoVar |