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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0006t0003others(1): Show | a0001c0001t0001g0212a0001c0001t0001g0223a0001c0001t0001g0269others(7): Show | 10 | 326 | 0.0307 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 326 | 0.0031 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01433.hp1 HG03239.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0115a0001c0005t0001g0116a0001c0005t0001g0268 | 3 | 326 | 0.0092 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0296 | 1 | 326 | 0.0031 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64913641 | G | GAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01261.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0001a0001c0003t0001 | a0001c0001t0004g0003a0001c0001t0004g0004a0001c0001t0004g0005others(15): Show | 18 | 326 | 0.0552 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64913655 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 326 | 0.0031 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64913705 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0000 | a0000c0011 | a0000c0011t0010 | a0000c0011t0010g0025 | 1 | 326 | 0.0031 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64913705 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00597.hp1 others(12): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0045a0001c0002t0002g0028a0001c0002t0002g0031others(12): Show | 15 | 326 | 0.0460 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64913705 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0044 | 1 | 326 | 0.0031 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64913705 | A | AGGGAAGG others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03471.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0295a0001c0005t0001g0296 | 2 | 326 | 0.0061 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64913707 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG01255.hp1 NA20752.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0315a0001c0003t0001g0316 | 2 | 326 | 0.0061 | 24 | c.-77 others(43): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5062500 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0062 | 1 | 364 | 0.0028 | 24 | c.105 others(43): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
JAK2_chr9_4980272_5134948 | 5131435 | A | ATTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02258.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0013a0001c0003t0056a0001c0004t0006others(2): Show | a0001c0003t0013g0029a0001c0003t0056g0027a0001c0004t0006g0038others(2): Show | 5 | 364 | 0.0137 | 24 | c.*46 others(35): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 1488 | chr9 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6080984 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02922.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0189 | 2 | 233 | 0.0086 | 24 | c.110 others(41): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 6/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6098546 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03540.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183a0001c0001t0001g0201a0001c0001t0001g0205 | 3 | 233 | 0.0129 | 24 | c.624 others(41): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6152789 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 233 | 0.0043 | 24 | c.-14 others(45): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6183478 | C | CAATAAAT others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01255.hp1 others(30): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0028a0001c0001t0001g0039others(30): Show | 33 | 233 | 0.1416 | 24 | c.-14 others(45): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6183506 | A | AAATAAAT others(17): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 233 | 0.0043 | 24 | c.-14 others(45): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6191913 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02970.hp1 NA18966.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0001g0073a0001c0001t0001g0092others(1): Show | 4 | 233 | 0.0172 | 24 | c.-14 others(43): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147702463 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 250 | 0.0040 | 24 | c.-14 others(45): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132108976 | T | TACGCAAA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00642.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0019a0001c0022others(11): Show | a0001c0006t0003a0001c0006t0025a0001c0006t0035others(22): Show | a0001c0006t0003g0082a0001c0006t0003g0083a0001c0006t0003g0149others(35): Show | 38 | 158 | 0.2405 | 24 | c.135 others(41): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132159565 | G | GGGTCCTC others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 |
a0004 | a0004c0014a0004c0030 | a0004c0014t0031a0004c0030t0030 | a0004c0014t0031g0150a0004c0030t0030g0084 | 2 | 158 | 0.0127 | 24 | c.222 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132159673 | C | CTTCCTGT others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 158 | 0.0063 | 24 | c.222 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160289 | G | GGGGGGCC others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03540.hp2 |
a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0061a0002c0005t0010g0095 | 2 | 158 | 0.0127 | 24 | c.222 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160496 | G | GGGGGGCC others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG02040.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0013a0002c0026a0002c0047others(3): Show | a0001c0013t0016a0002c0026t0001a0002c0047t0022others(3): Show | a0001c0013t0016g0155a0002c0026t0001g0106a0002c0047t0022g0045others(5): Show | 8 | 158 | 0.0506 | 24 | c.222 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160603 | G | GGGGTCTA others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01891.hp1 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0006a0001c0017a0001c0019others(1): Show | a0001c0006t0003a0001c0006t0017a0001c0017t0003others(2): Show | a0001c0006t0003g0082a0001c0006t0003g0083a0001c0006t0017g0154others(4): Show | 7 | 158 | 0.0443 | 24 | c.222 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160680 | G | GGGGGACC others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
a0001a0002 | a0001c0006a0001c0017a0001c0019others(1): Show | a0001c0006t0017a0001c0017t0003a0001c0019t0003others(1): Show | a0001c0006t0017g0154a0001c0017t0003g0011a0001c0017t0003g0104others(2): Show | 5 | 158 | 0.0317 | 24 | c.222 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160892 | G | GGGGAGCC others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0040 | 1 | 158 | 0.0063 | 24 | c.222 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132161101 | G | GGGGGACC others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 |
a0002 | a0002c0005a0002c0037 | a0002c0005t0001a0002c0037t0001 | a0002c0005t0001g0016a0002c0037t0001g0139 | 2 | 158 | 0.0127 | 24 | c.222 others(43): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132162756 | G | GTGTATTT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(22): Show | a0001c0001t0001a0001c0006t0025a0001c0013t0001others(26): Show | a0001c0001t0001g0116a0001c0006t0025g0153a0001c0013t0001g0094others(50): Show | 53 | 158 | 0.3354 | 24 | c.222 others(41): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132168101 | G | GCGTGGAG others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0005 | a0002c0005t0019 | a0002c0005t0019g0138 | 1 | 158 | 0.0063 | 24 | c.*17 others(33): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/24 | 1093 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0224 | 1 | 328 | 0.0031 | 24 | c.67+ others(41): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0225 | 1 | 328 | 0.0031 | 24 | c.67+ others(41): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25666315 | T | TTTATTAT others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0009a0001c0001t0019others(1): Show | a0001c0001t0005g0216a0001c0001t0009g0236a0001c0001t0019g0315others(1): Show | 4 | 328 | 0.0122 | 24 | c.68- others(41): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM3_chr11_134064072_134157001 | 134154531 | C | CAGGTGGT others(17): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 NA18950.hp1 NA18993.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0010a0002c0003t0067 | a0001c0001t0001g0329a0001c0001t0010g0016a0001c0001t0010g0276others(2): Show | 6 | 390 | 0.0154 | 24 | c.*53 others(35): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 2531 | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134154547 | A | ACCCCTCC others(17): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(96): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0066others(89): Show | 99 | 390 | 0.2539 | 24 | c.*53 others(35): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 2547 | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134154570 | C | CGCCCCTC others(17): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0275 | 1 | 390 | 0.0026 | 24 | c.*53 others(35): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 2570 | chr11 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15248436 | T | TGGGAGCG others(17): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 284 | 0.0035 | 24 | c.45+ others(39): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15413002 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 284 | 0.0035 | 24 | c.323 others(41): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15415517 | G | GCCGGGCA others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03471.hp1 HG04199.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0023a0001c0003t0001others(2): Show | a0001c0001t0001g0146a0001c0001t0023g0151a0001c0003t0001g0092others(2): Show | 5 | 284 | 0.0176 | 24 | c.323 others(41): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 27849752 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 206 | 0.0049 | 24 | c.386 others(41): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27849752 | G | GACACAGA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 206 | 0.0049 | 24 | c.386 others(41): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(17): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18612.hp2 NA19085.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0174a0001c0001t0002g0016a0001c0001t0008g0039others(1): Show | 4 | 206 | 0.0194 | 24 | c.115 others(43): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JHY_chr11_122877759_122968862 | 122922809 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0299 | 1 | 332 | 0.0030 | 24 | c.865 others(41): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JKAMP_chr14_59479517_59510410 | 59502752 | T | TTTTGTTT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0121 | 2 | 358 | 0.0056 | 24 | c.718 others(41): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
JKAMP_chr14_59479517_59510410 | 59502752 | T | TTTTGTTT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | 358 | 0.0084 | 24 | c.718 others(41): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
JKAMP_chr14_59479517_59510410 | 59508399 | T | TACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01099.hp1 others(29): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0049a0001c0001t0001g0114others(19): Show | 32 | 358 | 0.0894 | 24 | c.*43 others(35): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 2990 | chr14 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63243103 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01099.hp1 HG04115.hp1 NA18941.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230a0002c0002t0001g0260a0002c0002t0001g0268 | 3 | 310 | 0.0097 | 24 | c.447 others(43): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63248529 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0252 | 1 | 310 | 0.0032 | 24 | c.447 others(43): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63248529 | G | GATAGATA others(17): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0182 | 1 | 310 | 0.0032 | 24 | c.447 others(43): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar |