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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKAG2_chr7_151551127_151882115 | 151773066 | G | GGAGGGAG others(35): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0144 | 1 | 220 | 0.0045 | 42 | c.466 others(59): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66798426 | T | TGACGGTG others(35): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0149 | 1 | 173 | 0.0058 | 42 | c.185 others(61): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799124 | G | GTGGTGAT others(35): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 160 | 0.0063 | 42 | c.185 others(61): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTCTTTC others(35): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0026 | 1 | 37 | 0.0270 | 42 | c.205 others(61): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTTTCTC others(35): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0012 | a0001c0012t0024 | a0001c0012t0024g0022 | 1 | 37 | 0.0270 | 42 | c.205 others(61): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTTTCTT others(35): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03834.hp2 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0034a0001c0015t0030 | a0001c0002t0034g0084 a0001c0015t0030g0005 |
2 | 38 | 0.0526 | 42 | c.205 others(61): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23982104 | T | TCCACTTC others(35): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0033a0001c0015t0030 | a0001c0001t0033g0060 a0001c0015t0030g0005 |
2 | 131 | 0.0153 | 42 | c.206 others(59): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24113243 | A | ACTTGCTT others(35): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 NA19240.hp1 |
a0001 | a0001c0004a0001c0006a0001c0013 | a0001c0004t0009a0001c0006t0039a0001c0013t0047 | a0001c0004t0009g0092 a0001c0006t0039g0025 a0001c0013t0047g0047 |
3 | 135 | 0.0222 | 42 | c.918 others(57): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906081 | C | CCTTCTTC others(35): Show |
intron_variant | MODIFIER | HG01943.hp1 HG06807.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0032 a0001c0006t0003g0144 |
2 | 264 | 0.0076 | 42 | c.176 others(59): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906084 | C | CCTCCTCC others(35): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0345 | 1 | 124 | 0.0081 | 42 | c.176 others(59): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906084 | C | CCTCCTCC others(35): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0346 | 1 | 124 | 0.0081 | 42 | c.176 others(59): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906084 | C | CCTCCTCC others(35): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0013 | a0001c0001t0004a0001c0004t0002a0002c0013t0002 | a0001c0001t0004g0212 a0001c0004t0002g0348 a0002c0013t0002g0017 |
3 | 126 | 0.0238 | 42 | c.176 others(59): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906084 | C | CCTCCTCC others(35): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0143 | 1 | 124 | 0.0081 | 42 | c.176 others(59): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2106770 | A | ACCTCCAC others(35): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 283 | 0.0035 | 42 | c.335 others(61): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2142093 | A | ACTCCAGG others(35): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02145.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0120 a0001c0001t0001g0121 others(15): Show |
18 | 264 | 0.0682 | 42 | c.421 others(59): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2142135 | T | TCTCCAGG others(35): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0235 others(6): Show |
9 | 246 | 0.0366 | 42 | c.421 others(59): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2142317 | G | GCATCCAG others(35): Show |
intron_variant | MODIFIER | HG03139.hp1 NA18993.hp2 NA19004.hp2 |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0002a0001c0004t0001a0001c0007t0001 | a0001c0001t0002g0045 a0001c0004t0001g0005 a0001c0007t0001g0116 |
3 | 284 | 0.0106 | 42 | c.421 others(59): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51115372 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02976.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0002 | a0001c0001t0001g0019 a0001c0001t0004g0028 a0001c0005t0002g0037 |
3 | 20 | 0.1500 | 42 | c.312 others(61): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51570067 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 40 | 0.0250 | 42 | c.592 others(63): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3654031 | G | GTAATATA others(35): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0077a0001c0001t0129 | a0001c0001t0077g0088 a0001c0001t0129g0172 |
2 | 225 | 0.0089 | 42 | c.599 others(59): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRMT2_chr21_46630674_46670124 | 46663461 | A | AAATCAAG others(35): Show |
conservative_inframe_insertion | MODERATE | NA18985.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0111 | 1 | 424 | 0.0024 | 42 | c.117 others(51): Show |
p.Ser others(55): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 11/12 | 1432/2354 | 1177/1302 | 393/433 | chr21 | TogoVar | |||
PRMT7_chr16_68306019_68363584 | 68344933 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 48 | 0.0208 | 42 | c.928 others(57): Show |
PRMT7 | ENSG00000132600.18 | transcript | ENST00000441236.3 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PROM1_chr4_15963228_16089023 | 15985886 | T | TTTAAGTA others(35): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(315): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0023 others(312): Show |
318 | 371 | 0.8571 | 42 | c.221 others(57): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 21/27 | chr4 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113161764 | G | GTCCTCCT others(35): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | 373 | 0.0054 | 42 | c.259 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161804 | A | ACATCCTC others(35): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 369 | 0.0027 | 42 | c.259 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161870 | C | CGTCCCTG others(35): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 376 | 0.0027 | 42 | c.259 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161882 | G | GTCCCCAC others(35): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 272 | 0.0037 | 42 | c.259 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161930 | C | CCATCCTC others(35): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0210 | 1 | 78 | 0.0128 | 42 | c.259 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161930 | C | CCATCCTC others(35): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 a0001c0002t0002g0059 |
2 | 79 | 0.0253 | 42 | c.259 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161966 | C | CTCCCCAC others(35): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 224 | 0.0045 | 42 | c.260 others(59): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161966 | C | CTCCTCAC others(35): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 224 | 0.0045 | 42 | c.259 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161972 | A | ACATCCTC others(35): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01243.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0027 others(25): Show |
37 | 331 | 0.1118 | 42 | c.260 others(59): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162051 | T | TCCCCACA others(35): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01952.hp2 others(9): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0234 a0001c0001t0002g0043 a0001c0001t0002g0044 others(7): Show |
12 | 374 | 0.0321 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162054 | C | CCACATCC others(35): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01167.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0034 a0001c0001t0001g0087 a0001c0001t0001g0088 others(5): Show |
10 | 342 | 0.0292 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162079 | T | TCGTCCCT others(35): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 others(1): Show |
4 | 39 | 0.1026 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162092 | C | CTCCTCAC others(35): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19007.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 |
3 | 309 | 0.0097 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162098 | C | CCATCCTC others(35): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 148 | 0.0068 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162138 | C | CCACATCC others(35): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 297 | 0.0034 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162138 | C | CCACATCC others(35): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 297 | 0.0034 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162140 | A | ACATCCTC others(35): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02015.hp2 HG02165.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0130 others(2): Show |
9 | 332 | 0.0271 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162180 | C | CCACATCC others(35): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 |
2 | 325 | 0.0062 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162182 | A | ACATCCTC others(35): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 338 | 0.0030 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162201 | G | GTCCCCGT others(35): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 290 | 0.0034 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162224 | C | ACATCCTC others(35): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 146 | 0.0068 | 42 | c.260 others(54): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113162224 | C | CCATCCTC others(35): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 146 | 0.0068 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162266 | A | ACATCCTC others(35): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 271 | 0.0037 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162392 | T | TCATCCTC others(35): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 2 | 60 | 0.0333 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162392 | T | TCATCCTC others(35): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 59 | 0.0169 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162428 | C | CGCCCCAC others(35): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 323 | 0.0031 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113162434 | A | ACATCCTC others(35): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp2 HG01891.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0055 others(7): Show |
13 | 345 | 0.0377 | 42 | c.260 others(57): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |