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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAJC25_chr9_111626334_111659345 | 111650426 | TTTAAA | T | intron_variant | MODIFIER | HG01192.hp2 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044a0001c0001t0006g0059 | 3 | 412 | 0.0073 | -5 | c.960 others(20): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJC25_chr9_111626334_111659345 | 111655728 | GGTTCA | G | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01257.hp2 HG01346.hp2 others(14): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0003 | a0001c0002t0003g0009a0001c0002t0003g0040a0001c0002t0003g0041others(9): Show | 17 | 412 | 0.0413 | -5 | c.*25 others(16): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1384 | chr9 | TogoVar | ||||||
DNAJC28_chr21_33483055_33496716 | 33488442 | CAATTA | C | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0012others(3): Show | 61 | 415 | 0.1470 | -5 | c.947 others(12): Show |
p.Leu others(5): Show |
DNAJC28 | ENSG00000177692.13 | transcript | ENST00000381947.4 | protein_coding | 2/2 | 1097/1485 | 947/1167 | 316/388 | chr21 | TogoVar | ||
DNAJC2_chr7_103307289_103349767 | 103331775 | CCTTAT | C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0132a0001c0001t0001g0223a0001c0001t0003g0224 | 3 | 406 | 0.0074 | -5 | c.332 others(22): Show |
DNAJC2 | ENSG00000105821.15 | transcript | ENST00000379263.8 | protein_coding | 3/16 | chr7 | TogoVar | ||||||
DNAJC30_chr7_73675918_73688453 | 73684923 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01167.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 17 | 380 | 0.0447 | -5 | c.-15 others(16): Show |
DNAJC30 | ENSG00000176410.8 | transcript | ENST00000395176.3 | protein_coding | 1471 | chr7 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95689127 | CTTTGA | C | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0093a0001c0001t0008g0094a0001c0001t0008g0095others(3): Show | 6 | 374 | 0.0160 | -5 | c.82+ others(22): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95751233 | CTAATT | C | intron_variant | MODIFIER | HG02572.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0362a0001c0001t0012g0363a0001c0001t0012g0364others(1): Show | 4 | 374 | 0.0107 | -5 | c.394 others(22): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95757296 | CAAGTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02818.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0018a0001c0001t0022a0001c0001t0041others(2): Show | a0001c0001t0018g0366a0001c0001t0018g0368a0001c0001t0022g0371others(4): Show | 7 | 374 | 0.0187 | -5 | c.394 others(20): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC3_chr13_95672139_95799988 | 95779119 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02818.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0018a0001c0001t0022a0001c0001t0041others(2): Show | a0001c0001t0018g0366a0001c0001t0018g0368a0001c0001t0022g0371others(4): Show | 7 | 374 | 0.0187 | -5 | c.107 others(24): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC5B_chr8_66016553_66106245 | 66020648 | GTGTGT | G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01934.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137a0001c0001t0001g0167a0001c0001t0002g0150others(1): Show | 4 | 254 | 0.0158 | -5 | c.-11 others(16): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 904 | chr8 | TogoVar | ||||||
DNAJC7_chr17_41971435_42022439 | 41986047 | TAAAAA | T | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02615.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0002a0001c0004t0002a0001c0005t0002 | a0001c0001t0002g0007a0001c0001t0002g0010a0001c0001t0002g0022others(8): Show | 13 | 338 | 0.0385 | -5 | c.101 others(24): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | ||||||
DNAJC8_chr1_28195278_28238029 | 28202583 | TTTTTC | T | intron_variant | MODIFIER | HG01123.hp2 HG01257.hp1 HG01433.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0142a0001c0001t0002g0143others(5): Show | 9 | 250 | 0.0360 | -5 | c.639 others(22): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73650969 | AACTTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0041a0001c0001t0042 | a0001c0001t0012g0198a0001c0001t0012g0199a0001c0001t0012g0200others(4): Show | 7 | 340 | 0.0206 | -5 | c.4-3 others(18): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DNAL1_chr14_73639986_73708732 | 73680660 | ATCTTC | A | intron_variant | MODIFIER | HG03041.hp1 HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0037 | a0001c0001t0029g0079a0001c0001t0029g0081a0001c0001t0037g0080 | 3 | 340 | 0.0088 | -5 | c.265 others(22): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DNAL4_chr22_38773508_38799143 | 38786557 | TCAAAA | T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0002g0021a0001c0001t0002g0130a0001c0001t0010g0041others(2): Show | 7 | 370 | 0.0189 | -5 | c.-13 others(24): Show |
DNAL4 | ENSG00000100246.13 | transcript | ENST00000216068.9 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154407218 | ATTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG01169.hp2 others(16): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0001c0002t0003a0001c0002t0011others(2): Show | a0001c0002t0002g0008a0001c0002t0002g0019a0001c0002t0002g0020others(9): Show | 19 | 279 | 0.0681 | -5 | c.-87 others(22): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 1/7 | chrX | TogoVar | ||||||
DNASE1L3_chr3_58187257_58215972 | 58207451 | CCCCCA | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(96): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0222a0001c0001t0001g0252a0001c0001t0004g0251others(71): Show | 99 | 372 | 0.2661 | -5 | c.230 others(20): Show |
DNASE1L3 | ENSG00000163687.14 | transcript | ENST00000394549.7 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
DNASE1L3_chr3_58187257_58215972 | 58212745 | GTTTAC | G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01106.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0002t0001g0246others(26): Show | 32 | 372 | 0.0860 | -5 | c.-18 others(16): Show |
DNASE1L3 | ENSG00000163687.14 | transcript | ENST00000394549.7 | protein_coding | 1774 | chr3 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3653806 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00738.hp2 others(50): Show |
a0001a0002a0013others(3): Show | a0001c0001a0002c0002a0002c0018others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0018t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(9): Show | 53 | 440 | 0.1205 | -5 | c.-12 others(16): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 884 | chr16 | TogoVar | ||||||
DNASE1_chr16_3649691_3663095 | 3660011 | GGCACC | G | downstream_gene_variant | MODIFIER | NA19030.hp2 NA19043.hp1 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0024 | 3 | 440 | 0.0068 | -5 | c.*20 others(16): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 1917 | chr16 | TogoVar | ||||||
DND1_chr5_140665794_140678576 | 140666864 | CTCTAG | C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01256.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 13 | 378 | 0.0344 | -5 | c.*44 others(16): Show |
DND1 | ENSG00000256453.2 | transcript | ENST00000542735.2 | protein_coding | 3929 | chr5 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229374836 | AAAGTT | A | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02723.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0053others(7): Show | 10 | 176 | 0.0568 | -5 | c.185 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229392479 | CCACAA | C | intron_variant | MODIFIER | HG01255.hp1 HG02895.hp1 HG02976.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0004c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(4): Show | 7 | 176 | 0.0398 | -5 | c.172 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229449771 | ATTTAT | A | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050a0001c0002t0001g0154a0001c0002t0001g0155 | 3 | 176 | 0.0171 | -5 | c.126 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229527184 | AAACTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02451.hp1 others(5): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0013a0005c0014others(2): Show | a0001c0001t0001a0001c0013t0001a0005c0014t0001others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0033others(5): Show | 8 | 176 | 0.0455 | -5 | c.994 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229554857 | AAAGAG | A | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01071.hp2 others(13): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0016 | a0001c0001t0001a0001c0002t0001a0006c0016t0001 | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0047others(13): Show | 16 | 176 | 0.0909 | -5 | c.848 others(22): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229554941 | AAAGGG | A | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0047others(11): Show | 14 | 176 | 0.0796 | -5 | c.848 others(22): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229621158 | TAAAAC | T | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01074.hp2 others(31): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(31): Show | 34 | 176 | 0.1932 | -5 | c.277 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229625908 | TTGTTG | T | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0063a0001c0001t0002g0132 | 2 | 176 | 0.0114 | -5 | c.277 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229630482 | TAATAA | T | intron_variant | MODIFIER | HG01516.hp1 HG03927.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0012a0001c0001t0001g0121a0001c0001t0004g0091 | 3 | 176 | 0.0171 | -5 | c.277 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229667488 | ATGACT | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00738.hp2 others(56): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0027others(56): Show | 59 | 176 | 0.3352 | -5 | c.276 others(24): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229714595 | TGCGGG | T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0062 | 2 | 176 | 0.0114 | -5 | c.-17 others(14): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 41 | chr2 | TogoVar | ||||||
DNHD1_chr11_6492280_6577020 | 6566516 | TACTCC | T | intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG01891.hp1 others(21): Show |
a0012a0021a0022others(9): Show | a0012c0006a0012c0070a0021c0017others(10): Show | a0012c0006t0001a0012c0070t0001a0021c0017t0001others(10): Show | a0012c0006t0001g0325a0012c0006t0001g0326a0012c0006t0001g0328others(21): Show | 24 | 342 | 0.0702 | -5 | c.112 others(22): Show |
DNHD1 | ENSG00000179532.13 | transcript | ENST00000254579.11 | protein_coding | 34/42 | chr11 | TogoVar | ||||||
DNLZ_chr9_136354483_136368744 | 136363745 | GGCCCC | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(33): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(4): Show | a0002c0002t0001g0030a0002c0002t0006g0007a0002c0002t0006g0023others(5): Show | 36 | 418 | 0.0861 | -5 | c.-36 others(12): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 2 | chr9 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32678261 | ATTTAT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(62): Show | 66 | 230 | 0.2870 | -5 | c.-11 others(16): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1039 | chr12 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32683531 | GATTTT | G | intron_variant | MODIFIER | HG00741.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0011a0001c0001t0024g0010 | 2 | 230 | 0.0087 | -5 | c.102 others(22): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32686932 | TTTTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(38): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(2): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0019others(37): Show | 41 | 230 | 0.1783 | -5 | c.102 others(22): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32689664 | AGAATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(5): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0019others(51): Show | 55 | 230 | 0.2391 | -5 | c.102 others(24): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32717815 | TATAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(42): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(2): Show | a0001c0002t0002g0001a0001c0002t0002g0016a0001c0002t0002g0019others(41): Show | 45 | 230 | 0.1957 | -5 | c.620 others(20): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32718081 | ATATTT | A | intron_variant | MODIFIER | HG02074.hp2 HG02683.hp2 HG03041.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0172a0001c0001t0006g0173a0001c0001t0006g0174others(4): Show | 8 | 230 | 0.0348 | -5 | c.620 others(20): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32724162 | CTACTT | C | intron_variant | MODIFIER | HG01175.hp2 HG02132.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0010a0001c0003t0018 | a0001c0003t0007g0210a0001c0003t0007g0211a0001c0003t0007g0212others(7): Show | 10 | 230 | 0.0435 | -5 | c.107 others(24): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNM1L_chr12_32674301_32750650 | 32724594 | ATATAT | A | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01099.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0080a0001c0001t0003g0092a0001c0001t0003g0093others(18): Show | 21 | 230 | 0.0913 | -5 | c.107 others(24): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 9/19 | chr12 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10727345 | GTTTTC | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01168.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0002a0003c0008t0001 | a0001c0001t0001g0264a0001c0001t0001g0268a0001c0001t0001g0275others(10): Show | 13 | 278 | 0.0468 | -5 | c.161 others(22): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNM2_chr19_10713079_10836903 | 10739859 | CTCAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01070.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0016a0001c0002t0001g0002others(12): Show | 15 | 278 | 0.0540 | -5 | c.162 others(24): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10783482 | TAAATA | T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG02074.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0027others(14): Show | 17 | 278 | 0.0612 | -5 | c.849 others(20): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNM2_chr19_10713079_10836903 | 10815017 | CCATGG | C | intron_variant | MODIFIER | NA18948.hp2 NA18964.hp2 NA18974.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0168a0001c0003t0001g0177a0001c0003t0001g0182others(1): Show | 4 | 278 | 0.0144 | -5 | c.167 others(24): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 171860507 | GTTTAA | G | intron_variant | MODIFIER | HG02976.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | 136 | 0.0147 | -5 | c.161 others(24): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 171867920 | TTAAAC | T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0010 | a0001c0002t0001g0111a0001c0002t0001g0135a0001c0002t0010g0133others(1): Show | 4 | 136 | 0.0294 | -5 | c.161 others(24): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 171878119 | ATAATT | A | intron_variant | MODIFIER | HG02273.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033a0001c0001t0005g0042 | 2 | 136 | 0.0147 | -5 | c.161 others(24): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNM3_chr1_171836498_172417717 | 171949035 | ATCTTT | A | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0017a0001c0002t0019 | a0001c0002t0004g0009a0001c0002t0004g0024a0001c0002t0004g0046others(2): Show | 5 | 136 | 0.0368 | -5 | c.235 others(24): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |