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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP6C_chr9_125141573_125194803 | 125171466 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0285a0001c0003t0004g0286a0001c0003t0004g0354others(1): Show | 4 | 394 | 0.0102 | -22 | c.76- others(35): Show |
PPP6C | ENSG00000119414.12 | transcript | ENST00000373547.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50348117 | TGTGCTTA others(15): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0130 | 1 | 340 | 0.0029 | -22 | c.-14 others(41): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50381388 | TCACACGG others(15): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0195 | 1 | 340 | 0.0029 | -22 | c.-17 others(39): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50381410 | CCACACGG others(15): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0049 | 1 | 340 | 0.0029 | -22 | c.-17 others(39): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50381447 | CTCAGCAC others(15): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0181a0001c0001t0007g0202 | 2 | 340 | 0.0059 | -22 | c.-17 others(39): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50417658 | AGAGGCCA others(15): Show |
A | intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0004 | a0002c0004t0041 | a0002c0004t0041g0160 | 1 | 340 | 0.0029 | -22 | c.619 others(39): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68573114 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01496.hp2 HG01934.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0035a0001c0001t0003g0030a0001c0001t0003g0108others(4): Show | 7 | 252 | 0.0278 | -22 | c.134 others(39): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPT1_chr1_40067712_40102252 | 40096420 | CTAATCTG others(15): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01496.hp1 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0126a0001c0001t0005g0042a0001c0001t0005g0043others(6): Show | 12 | 396 | 0.0303 | -22 | c.124 others(37): Show |
PPT1 | ENSG00000131238.18 | transcript | ENST00000642050.2 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
PPWD1_chr5_65558296_65592549 | 65573532 | TTTTTTTT others(15): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00733.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(39): Show | 70 | 384 | 0.1823 | -22 | c.969 others(39): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
PRAMEF33_chr1_13298539_13313907 | 13298866 | GCCAGGTG others(15): Show |
G | upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 417 | 0.0024 | -22 | c.-47 others(33): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 4672 | chr1 | TogoVar | ||||||
PRAMEF8_chr1_13276304_13290137 | 13286263 | GAAAGAAA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0049 | 1 | 332 | 0.0030 | -22 | c.-12 others(33): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 1127 | chr1 | TogoVar | ||||||
PRC1_chr15_90961040_90999535 | 90969763 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01243.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0041a0001c0001t0001g0164others(35): Show | 40 | 376 | 0.1064 | -22 | c.157 others(39): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 12/14 | chr15 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156787446 | GATTGATA others(15): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02735.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0044a0003c0003t0001g0034others(2): Show | 5 | 350 | 0.0143 | -22 | c.108 others(39): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRCC_chr1_156762535_156805815 | 156787450 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00639.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0073a0001c0001t0001g0111others(49): Show | 53 | 350 | 0.1514 | -22 | c.108 others(39): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRCP_chr11_82817936_82905430 | 82821874 | TACACCTT others(15): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0166 | 1 | 320 | 0.0031 | -22 | c.*30 others(33): Show |
PRCP | ENSG00000137509.12 | transcript | ENST00000313010.8 | protein_coding | 1061 | chr11 | TogoVar | ||||||
PRDM10_chr11_129894711_130007835 | 129988860 | ACCTCGTG others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02145.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0008a0002c0019others(8): Show | a0001c0004t0002a0002c0008t0006a0002c0019t0006others(9): Show | a0001c0004t0002g0310a0002c0008t0006g0124a0002c0019t0006g0311others(13): Show | 16 | 326 | 0.0491 | -22 | c.-11 others(43): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41824144 | GTGACCTC others(15): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(161): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0004a0001c0005others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0002g0141a0001c0001t0002g0226a0001c0001t0002g0249others(161): Show | 164 | 406 | 0.4039 | -22 | c.163 others(39): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 13/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41844414 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0085 | 1 | 406 | 0.0025 | -22 | c.640 others(39): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856128 | CTCCCTCC others(15): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0006a0001c0014 | a0001c0006t0006a0001c0014t0003 | a0001c0006t0006g0344a0001c0006t0006g0345a0001c0014t0003g0123others(1): Show | 4 | 406 | 0.0099 | -22 | c.285 others(39): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3114196 | CACGCACG others(15): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01346.hp1 HG02145.hp2 others(9): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0012a0001c0001t0016a0001c0001t0076others(8): Show | a0001c0001t0012g0129a0001c0001t0016g0035a0001c0001t0076g0170others(9): Show | 12 | 210 | 0.0571 | -22 | c.37+ others(39): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3341061 | GCCCCCTG others(15): Show |
G | intron_variant | MODIFIER | HG02965.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0045a0001c0004t0007 | a0001c0001t0045g0024a0001c0004t0007g0063 | 2 | 210 | 0.0095 | -22 | c.439 others(41): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3341065 | CCTGAGCC others(15): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG02970.hp1 NA20300.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0007a0001c0004t0010a0002c0003t0004 | a0001c0004t0007g0038a0001c0004t0010g0130a0002c0003t0004g0068 | 3 | 210 | 0.0143 | -22 | c.439 others(41): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM6_chr5_123084241_123199266 | 123084801 | GATAGTTG others(15): Show |
G | upstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 312 | 0.0032 | -22 | c.-47 others(33): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 4439 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089126 | TCACACAC others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02523.hp1 HG06807.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0087a0001c0001t0091 | a0001c0001t0031g0081a0001c0001t0087g0040a0001c0001t0091g0002 | 3 | 312 | 0.0096 | -22 | c.-40 others(31): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 114 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089170 | ACACACAC others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp2 NA20300.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0083a0004c0004t0005 | a0002c0002t0083g0246a0004c0004t0005g0229 | 2 | 312 | 0.0064 | -22 | c.-36 others(31): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 70 | chr5 | TogoVar | ||||||
PRDM8_chr4_80192503_80209329 | 80198979 | GGTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 420 | 0.0024 | -22 | c.-2- others(37): Show |
PRDM8 | ENSG00000152784.16 | transcript | ENST00000415738.3 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
PRDM8_chr4_80192503_80209329 | 80198980 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01109.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(4): Show | a0001c0001t0001g0019a0001c0001t0004g0020a0001c0001t0025g0094others(10): Show | 33 | 420 | 0.0786 | -22 | c.-2- others(37): Show |
PRDM8 | ENSG00000152784.16 | transcript | ENST00000415738.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PRDX1_chr1_45506051_45526884 | 45507619 | CAGGATCT others(15): Show |
C | downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 364 | 0.0028 | -22 | c.*36 others(33): Show |
PRDX1 | ENSG00000117450.15 | transcript | ENST00000319248.13 | protein_coding | 3431 | chr1 | TogoVar | ||||||
PRDX6_chr1_173472335_173493815 | 173477182 | AGCCCCGC others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 402 | 0.0025 | -22 | c.-21 others(31): Show |
PRDX6 | ENSG00000117592.9 | transcript | ENST00000340385.6 | protein_coding | 152 | chr1 | TogoVar | ||||||
PREP_chr6_105268218_105408082 | 105374632 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02723.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0035others(11): Show | a0001c0001t0001g0073a0001c0001t0001g0092a0001c0006t0001g0047others(13): Show | 16 | 212 | 0.0755 | -22 | c.386 others(39): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48641842 | GGAAGGAA others(15): Show |
G | intron_variant | MODIFIER | HG02148.hp2 HG02155.hp2 NA18983.hp2 |
a0002 | a0002c0002a0002c0022 | a0002c0002t0003a0002c0022t0019 | a0002c0002t0003g0054a0002c0002t0003g0217a0002c0022t0019g0134 | 3 | 268 | 0.0112 | -22 | c.377 others(39): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 29/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48746941 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00673.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(7): Show | a0001c0001t0001g0116a0001c0001t0002g0246a0001c0005t0004g0108others(33): Show | 36 | 268 | 0.1343 | -22 | c.291 others(37): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 2/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48812305 | TATAAGAG others(15): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00735.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0010others(11): Show | a0001c0001t0002a0001c0006t0005a0001c0010t0006others(13): Show | a0001c0001t0002g0112a0001c0001t0002g0113a0001c0001t0002g0201others(35): Show | 38 | 268 | 0.1418 | -22 | c.219 others(41): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 1/39 | chr20 | TogoVar | ||||||
PREX2_chr8_67947046_68242032 | 68047488 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | NA18971.hp2 NA19004.hp2 NA19006.hp2 |
a0001 | a0001c0001a0001c0005a0001c0040 | a0001c0001t0002a0001c0005t0001a0001c0040t0002 | a0001c0001t0002g0165a0001c0005t0001g0166a0001c0040t0002g0053 | 3 | 190 | 0.0158 | -22 | c.943 others(39): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PRICKLE1_chr12_42451757_42594746 | 42521929 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0010a0001c0001t0001g0033a0001c0001t0001g0043others(120): Show | 123 | 300 | 0.4100 | -22 | c.-48 others(41): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRICKLE1_chr12_42451757_42594746 | 42527951 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01071.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0043a0001c0001t0001g0049others(27): Show | 30 | 300 | 0.1000 | -22 | c.-48 others(41): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRICKLE1_chr12_42451757_42594746 | 42560766 | TCTCACAC others(15): Show |
T | intron_variant | MODIFIER | HG02698.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0022a0001c0003t0020 | a0001c0001t0022g0290a0001c0003t0020g0119 | 2 | 300 | 0.0067 | -22 | c.-49 others(41): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRICKLE2_chr3_64087236_64230466 | 64165963 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0064a0001c0002t0003a0001c0002t0075others(5): Show | a0001c0001t0064g0121a0001c0002t0003g0136a0001c0002t0075g0134others(8): Show | 11 | 340 | 0.0324 | -22 | c.145 others(39): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
PRICKLE2_chr3_64087236_64230466 | 64178891 | GCCAACAG others(15): Show |
G | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0052 | a0001c0003t0052g0104 | 1 | 340 | 0.0029 | -22 | c.145 others(41): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57457117 | GCAAATGT others(15): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp2 others(57): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(57): Show | 60 | 300 | 0.2000 | -22 | c.694 others(41): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRIM2_chr6_57312630_57651850 | 57645321 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | NA18972.hp2 NA19070.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0293a0001c0001t0001g0294a0001c0001t0011g0292 | 3 | 300 | 0.0100 | -22 | c.130 others(39): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRKACA_chr19_14086688_14122762 | 14109979 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 358 | 0.0028 | -22 | c.47- others(37): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
PRKACA_chr19_14086688_14122762 | 14109981 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 358 | 0.0028 | -22 | c.47- others(37): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151703845 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0002g0107a0001c0001t0005g0239a0001c0001t0015g0230others(1): Show | 4 | 252 | 0.0159 | -22 | c.467 others(41): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151714425 | AGCCGTCC others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(121): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0022others(121): Show | 124 | 252 | 0.4921 | -22 | c.467 others(41): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151773023 | AAGAGAGA others(15): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0126a0001c0001t0011g0237 | 2 | 252 | 0.0079 | -22 | c.466 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151773032 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01168.hp1 HG02735.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(2): Show | a0001c0001t0001g0163a0001c0001t0001g0203a0001c0001t0002g0025others(3): Show | 6 | 252 | 0.0238 | -22 | c.466 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151773036 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02258.hp2 HG03017.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0001g0079a0001c0001t0001g0197others(5): Show | 8 | 252 | 0.0318 | -22 | c.466 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151773044 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 | 1 | 252 | 0.0040 | -22 | c.466 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151773079 | GAGGGAGG others(15): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 252 | 0.0040 | -22 | c.466 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar |