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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYSF_chr2_71461699_71691763 | 71640740 | CGTGTGT | C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(11): Show |
a0001a0004a0015 | a0001c0001a0001c0009a0001c0010others(8): Show | a0001c0001t0001a0001c0009t0008a0001c0010t0001others(8): Show | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(11): Show | 14 | 208 | 0.0673 | -6 | c.452 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71653875 | TATAAAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(88): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(88): Show | 91 | 208 | 0.4375 | -6 | c.462 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYTN_chr2_206646621_206723396 | 206659484 | CAAAAAA | C | intron_variant | MODIFIER | HG01928.hp2 HG03041.hp2 HG03579.hp2 others(4): Show |
a0002a0015 | a0002c0002a0015c0020 | a0002c0002t0001a0015c0020t0001 | a0002c0002t0001g0041a0002c0002t0001g0172a0002c0002t0001g0201others(4): Show | 7 | 382 | 0.0183 | -6 | c.163 others(25): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 11/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206665496 | TTATATC | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00738.hp1 others(4): Show |
a0002a0010 | a0002c0002a0010c0010 | a0002c0002t0001a0010c0010t0001 | a0002c0002t0001g0105a0002c0002t0001g0121a0002c0002t0001g0122others(4): Show | 7 | 382 | 0.0183 | -6 | c.114 others(23): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 10/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206666738 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00738.hp1 others(22): Show |
a0002a0004a0005others(2): Show | a0002c0002a0004c0005a0005c0008others(2): Show | a0002c0002t0001a0004c0005t0001a0005c0008t0001others(2): Show | a0002c0002t0001g0032a0002c0002t0001g0047a0002c0002t0001g0055others(21): Show | 25 | 382 | 0.0655 | -6 | c.981 others(21): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206666860 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(50): Show |
a0002a0003a0010others(2): Show | a0002c0002a0002c0004a0003c0003others(3): Show | a0002c0002t0001a0002c0004t0001a0003c0003t0001others(3): Show | a0002c0002t0001g0010a0002c0002t0001g0074a0002c0002t0001g0105others(47): Show | 53 | 382 | 0.1387 | -6 | c.981 others(21): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206667697 | CGTGTGT | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00738.hp1 others(6): Show |
a0002a0005a0010 | a0002c0002a0005c0008a0010c0010 | a0002c0002t0001a0005c0008t0001a0010c0010t0001 | a0002c0002t0001g0105a0002c0002t0001g0121a0002c0002t0001g0123others(5): Show | 9 | 382 | 0.0236 | -6 | c.981 others(23): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206675141 | GTGTGTA | G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01496.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105a0002c0002t0001g0121a0002c0002t0001g0122others(3): Show | 6 | 382 | 0.0157 | -6 | c.981 others(23): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206683339 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(82): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0001t0001g0064a0001c0001t0001g0094a0001c0001t0001g0095others(81): Show | 85 | 382 | 0.2225 | -6 | c.980 others(23): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206688140 | CAGGGTT | C | intron_variant | MODIFIER | NA18612.hp2 NA18965.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0367a0001c0001t0001g0368 | 3 | 382 | 0.0079 | -6 | c.980 others(23): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
DYTN_chr2_206646621_206723396 | 206717043 | AACACAC | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG02135.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0181a0001c0001t0001g0182others(27): Show | 33 | 382 | 0.0864 | -6 | c.19+ others(21): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95573717 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
a0004a0005 | a0004c0006a0004c0012a0005c0007 | a0004c0006t0021a0004c0006t0034a0004c0012t0035others(2): Show | a0004c0006t0021g0321a0004c0006t0034g0320a0004c0012t0035g0152others(2): Show | 5 | 382 | 0.0131 | -6 | c.*85 others(17): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 4484 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95610055 | AGTGTGT | A | intron_variant | MODIFIER | HG00544.hp1 HG03139.hp1 NA18985.hp1 others(5): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0007 | a0001c0001t0001a0004c0006t0034a0005c0007t0021 | a0001c0001t0001g0193a0001c0001t0001g0235a0001c0001t0001g0243others(5): Show | 8 | 382 | 0.0209 | -6 | c.136 others(23): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 12/22 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95621665 | AGTGTGT | A | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01106.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0085a0001c0001t0002g0058a0001c0001t0002g0059others(27): Show | 30 | 382 | 0.0785 | -6 | c.111 others(23): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 9/22 | chr13 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95637604 | ATCTCTC | A | intron_variant | MODIFIER | HG02071.hp1 HG02145.hp2 HG03471.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0008a0001c0001t0015a0001c0004t0012others(2): Show | a0001c0001t0008g0331a0001c0001t0008g0332a0001c0001t0008g0333others(5): Show | 8 | 382 | 0.0209 | -6 | c.597 others(23): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 5/22 | chr13 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108622836 | GTCTCTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp2 others(70): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(66): Show | 73 | 318 | 0.2296 | -6 | c.376 others(23): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108633836 | ATCTCTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(107): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0010a0008c0011others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(103): Show | 110 | 318 | 0.3459 | -6 | c.816 others(21): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108653505 | GTGTATA | G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(62): Show | 65 | 318 | 0.2044 | -6 | c.203 others(23): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 18/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108653507 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00642.hp2 others(66): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0012 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0027others(64): Show | 69 | 318 | 0.2170 | -6 | c.203 others(23): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 18/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DZIP3_chr3_108584722_108699840 | 108656538 | TGGGGAA | T | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG01891.hp2 others(4): Show |
a0001a0006 | a0001c0004a0006c0014 | a0001c0004t0004a0001c0004t0010a0001c0004t0015others(1): Show | a0001c0004t0004g0012a0001c0004t0004g0013a0001c0004t0004g0014others(4): Show | 7 | 318 | 0.0220 | -6 | c.219 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 19/32 | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108699360 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01071.hp2 others(57): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(3): Show | a0001c0001t0001g0117a0001c0001t0001g0184a0001c0001t0001g0185others(57): Show | 60 | 318 | 0.1887 | -6 | c.*60 others(17): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 4521 | chr3 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23503236 | GCTCTCC | G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00639.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0312a0001c0001t0002g0014a0001c0001t0002g0017others(28): Show | 33 | 396 | 0.0833 | -6 | c.*66 others(17): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 3201 | chr1 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23503252 | TCCCTCC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001 | a0001c0001t0002g0017a0001c0001t0002g0121a0001c0001t0002g0135others(5): Show | 8 | 396 | 0.0202 | -6 | c.*66 others(17): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 3185 | chr1 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23513561 | CATGTGT | C | intron_variant | MODIFIER | HG01517.hp1 HG02074.hp2 HG03225.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0115a0001c0001t0003g0117a0001c0001t0003g0285others(4): Show | 7 | 396 | 0.0177 | -6 | c.104 others(25): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23513562 | ATGTGTG | A | intron_variant | MODIFIER | HG01943.hp1 HG02300.hp2 HG02630.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0002g0145a0001c0001t0009g0326a0001c0001t0012g0037others(2): Show | 5 | 396 | 0.0126 | -6 | c.104 others(25): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23534773 | CACACAT | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01257.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0312a0001c0001t0001g0318a0001c0001t0006g0313others(12): Show | 17 | 396 | 0.0429 | -6 | c.-39 others(17): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 3541 | chr1 | TogoVar | ||||||
E2F3_chr6_20396879_20498714 | 20424210 | GGTGTGT | G | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0069 | 3 | 336 | 0.0089 | -6 | c.393 others(25): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F3_chr6_20396879_20498714 | 20424383 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(144): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0053others(140): Show | 147 | 336 | 0.4375 | -6 | c.393 others(25): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F3_chr6_20396879_20498714 | 20436478 | CAGAGAG | C | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0117a0001c0001t0004g0128a0001c0001t0004g0320others(2): Show | 5 | 336 | 0.0149 | -6 | c.393 others(25): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F3_chr6_20396879_20498714 | 20462859 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp2 others(57): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0015others(57): Show | 60 | 336 | 0.1786 | -6 | c.394 others(25): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F3_chr6_20396879_20498714 | 20472025 | AACACAC | A | intron_variant | MODIFIER | HG00438.hp2 HG02451.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0146a0001c0001t0001g0284a0001c0001t0002g0230others(6): Show | 9 | 336 | 0.0268 | -6 | c.394 others(23): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F4_chr16_67187155_67203918 | 67195890 | ACAGCAG | A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG02004.hp2 HG03209.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0001a0006c0007t0001g0037 | 3 | 320 | 0.0094 | -6 | c.953 others(13): Show |
p.Ser others(13): Show |
E2F4 | ENSG00000205250.9 | transcript | ENST00000379378.8 | protein_coding | 7/10 | 1026/2110 | 953/1242 | 318/413 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
E2F5_chr8_85172154_85219518 | 85180511 | CATATAT | C | intron_variant | MODIFIER | HG01261.hp2 HG02572.hp1 HG02735.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171a0001c0002t0001g0172a0001c0002t0001g0173others(1): Show | 4 | 336 | 0.0119 | -6 | c.234 others(23): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
E2F5_chr8_85172154_85219518 | 85189372 | ATATTAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0025a0001c0002t0001g0048others(10): Show | 14 | 336 | 0.0417 | -6 | c.234 others(25): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
E2F7_chr12_77016251_77070569 | 77068739 | CTCTATA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00597.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0043others(31): Show | 50 | 394 | 0.1269 | -6 | c.-34 others(17): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3171 | chr12 | TogoVar | ||||||
E2F7_chr12_77016251_77070569 | 77068755 | ATATGTG | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp2 others(102): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0014others(68): Show | 105 | 394 | 0.2665 | -6 | c.-34 others(17): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3187 | chr12 | TogoVar | ||||||
E2F7_chr12_77016251_77070569 | 77068785 | GTGTGTA | G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02015.hp1 HG02056.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0044a0001c0001t0001g0154others(9): Show | 19 | 394 | 0.0482 | -6 | c.-34 others(17): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3217 | chr12 | TogoVar | ||||||
E2F7_chr12_77016251_77070569 | 77068787 | GTGTATA | G | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0177others(3): Show | 7 | 394 | 0.0178 | -6 | c.-34 others(17): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3219 | chr12 | TogoVar | ||||||
E2F7_chr12_77016251_77070569 | 77068812 | TATATAA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(96): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(66): Show | 99 | 394 | 0.2513 | -6 | c.-34 others(17): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3244 | chr12 | TogoVar | ||||||
E4F1_chr16_2218591_2240742 | 2238243 | GGCCCCT | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01496.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0080a0001c0001t0001g0084a0001c0003t0001g0005others(2): Show | 15 | 392 | 0.0383 | -6 | c.*26 others(17): Show |
E4F1 | ENSG00000167967.16 | transcript | ENST00000301727.9 | protein_coding | 2502 | chr16 | TogoVar | ||||||
EAF1_chr3_15422598_15447613 | 15445530 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02615.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0026a0001c0003t0007 | a0001c0001t0010g0012a0001c0001t0026g0048a0001c0003t0007g0005others(3): Show | 15 | 418 | 0.0359 | -6 | c.*63 others(17): Show |
EAF1 | ENSG00000144597.14 | transcript | ENST00000396842.7 | protein_coding | 2918 | chr3 | TogoVar | ||||||
EAF2_chr3_121830209_121891526 | 121835005 | GCTCCCA | G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(183): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(148): Show | 186 | 318 | 0.5849 | -6 | c.-28 others(15): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 203 | chr3 | TogoVar | ||||||
EAF2_chr3_121830209_121891526 | 121880455 | GGTGTGT | G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(75): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(53): Show | 78 | 318 | 0.2453 | -6 | c.737 others(23): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EAPP_chr14_34510938_34544701 | 34518325 | ATTTTTT | A | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023a0001c0002t0001g0024a0001c0002t0001g0139others(5): Show | 10 | 360 | 0.0278 | -6 | c.582 others(23): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34521440 | CTTAGAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056a0001c0001t0002g0057a0001c0001t0002g0067 | 3 | 360 | 0.0083 | -6 | c.581 others(23): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34542812 | TAAAATA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0064a0001c0001t0001g0098others(58): Show | 71 | 360 | 0.1972 | -6 | c.-31 others(17): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 3112 | chr14 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34544075 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02976.hp2 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0051 | 3 | 360 | 0.0083 | -6 | c.-44 others(17): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 4375 | chr14 | TogoVar | ||||||
EBAG9_chr8_109535173_109570996 | 109539610 | CCTGAGG | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0003a0001c0001t0001g0025a0001c0001t0001g0041others(15): Show | 27 | 356 | 0.0758 | -6 | c.-86 others(15): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 562 | chr8 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158775745 | AACACAC | A | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0094 | a0001c0001t0002g0101a0001c0001t0025g0177a0001c0001t0025g0178others(1): Show | 4 | 196 | 0.0204 | -6 | c.103 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158775770 | ACACATG | A | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0042 | a0001c0001t0002g0155a0001c0001t0011g0144a0001c0001t0042g0027 | 3 | 196 | 0.0153 | -6 | c.103 others(25): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar |