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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFHC2_chrX_44142872_44348672 | 44243894 | A | ACTGTT | intron_variant | MODIFIER | NA19055.hp1 | a0011 | a0011c0013 | a0011c0013t0016 | a0011c0013t0016g0157 | 1 | 221 | 0.0045 | 5 | c.111 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44251597 | T | TAAAAA | intron_variant | MODIFIER | HG02027.hp1 HG02083.hp1 HG02155.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0072a0001c0001t0001g0132a0001c0001t0003g0122others(4): Show | 7 | 221 | 0.0317 | 5 | c.607 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44282620 | C | CGGGGG | intron_variant | MODIFIER | HG01192.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0152 | 2 | 221 | 0.0091 | 5 | c.232 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44282633 | G | GGGGGT | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 221 | 0.0045 | 5 | c.232 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44282635 | G | GGGGGT | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 221 | 0.0045 | 5 | c.232 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44282636 | G | GGGGGT | intron_variant | MODIFIER | HG03017.hp1 NA18952.hp1 NA18985.hp1 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0003a0008c0010t0006 | a0001c0001t0001g0045a0001c0001t0003g0122a0008c0010t0006g0163 | 3 | 221 | 0.0136 | 5 | c.232 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44283532 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0194a0001c0001t0001g0211others(36): Show | 39 | 221 | 0.1765 | 5 | c.232 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44330085 | C | CAAAAA | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0030 | 1 | 221 | 0.0045 | 5 | c.42+ others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44339191 | C | CAAAAA | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043 | 1 | 221 | 0.0045 | 5 | c.42+ others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44341202 | A | ATATAT | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 221 | 0.0045 | 5 | c.42+ others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232675246 | G | GAAAGA | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG01891.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0052others(24): Show | 28 | 382 | 0.0733 | 5 | c.585 others(22): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232680376 | C | CTGATA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(310): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0012a0001c0001t0001g0019a0001c0001t0001g0024others(301): Show | 313 | 382 | 0.8194 | 5 | c.586 others(22): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFNA4_chr1_155058740_155074553 | 155068427 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(65): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0036others(8): Show | 68 | 334 | 0.2036 | 5 | c.470 others(20): Show |
EFNA4 | ENSG00000243364.8 | transcript | ENST00000368409.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107399318 | C | CGGAAA | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01169.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0120a0001c0001t0003g0070a0001c0001t0003g0183others(14): Show | 17 | 190 | 0.0895 | 5 | c.419 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107448866 | T | TAAATA | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(6): Show | a0001c0001t0003g0130a0001c0001t0003g0183a0001c0001t0007g0142others(7): Show | 10 | 190 | 0.0526 | 5 | c.126 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107556785 | T | TAAATA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0078a0001c0001t0002g0152a0001c0001t0002g0158others(36): Show | 39 | 190 | 0.2053 | 5 | c.125 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107591935 | T | TATATA | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0069 | a0001c0001t0003g0068a0001c0001t0069g0015 | 2 | 190 | 0.0105 | 5 | c.125 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107591970 | A | ATATAT | intron_variant | MODIFIER | HG02155.hp1 NA18978.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0023 | a0001c0001t0003g0032a0001c0001t0004g0153a0001c0001t0023g0057 | 3 | 190 | 0.0158 | 5 | c.125 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107592092 | A | ATAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0074a0001c0001t0001g0098a0001c0001t0001g0133others(27): Show | 30 | 190 | 0.1579 | 5 | c.125 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107623027 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0038others(2): Show | a0001c0001t0012g0061a0001c0001t0013g0008a0001c0001t0038g0024others(2): Show | 5 | 190 | 0.0263 | 5 | c.125 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNB1_chrX_68824021_68847160 | 68827435 | T | TTCATC | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0115others(2): Show | 7 | 335 | 0.0209 | 5 | c.-23 others(16): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1585 | chrX | TogoVar | ||||||
EFNB1_chrX_68824021_68847160 | 68841385 | A | ACACAC | 3_prime_UTR_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0006 | 1 | 335 | 0.0030 | 5 | c.*73 others(14): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 5/5 | 732 | chrX | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 131967911 | T | TATTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(344): Show | 370 | 412 | 0.8981 | 5 | c.856 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132008846 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003a0001c0003t0016 | a0001c0001t0001g0001a0001c0001t0001g0165a0001c0001t0001g0167others(21): Show | 27 | 412 | 0.0655 | 5 | c.236 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01433.hp1 HG01978.hp2 others(14): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0017 | a0001c0001t0001a0001c0001t0006a0002c0002t0002others(1): Show | a0001c0001t0001g0170a0001c0001t0006g0012a0002c0002t0002g0227others(13): Show | 17 | 412 | 0.0413 | 5 | c.*72 others(16): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25039757 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01074.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0127a0001c0001t0001g0131a0001c0001t0001g0132others(14): Show | 17 | 306 | 0.0556 | 5 | c.-25 others(16): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 2318 | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25080283 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0140a0001c0001t0003g0079a0001c0001t0003g0080others(8): Show | 11 | 306 | 0.0360 | 5 | c.8-1 others(20): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25094282 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02135.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0188a0001c0001t0003g0074a0001c0001t0003g0111others(8): Show | 11 | 306 | 0.0360 | 5 | c.212 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25118726 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0006others(1): Show | a0001c0001t0001g0130a0001c0001t0001g0141a0001c0001t0001g0151others(4): Show | 7 | 306 | 0.0229 | 5 | c.364 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFTUD2_chr17_44844948_44904445 | 44866411 | A | ATTTAT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(96): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0063others(93): Show | 99 | 370 | 0.2676 | 5 | c.115 others(24): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 13/27 | chr17 | TogoVar | ||||||
EFTUD2_chr17_44844948_44904445 | 44876855 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0179a0001c0001t0001g0181others(55): Show | 60 | 370 | 0.1622 | 5 | c.703 others(20): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 9/27 | chr17 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13600279 | T | TTCTTC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(110): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0059others(108): Show | 113 | 302 | 0.3742 | 5 | c.400 others(20): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 4/11 | chrX | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13614749 | A | ATTTTT | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0053 | 1 | 302 | 0.0033 | 5 | c.779 others(22): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13623377 | G | GTTTTT | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0133a0001c0001t0003g0150 | 2 | 302 | 0.0066 | 5 | c.118 others(22): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13625885 | C | CAAAAA | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0055 | 1 | 302 | 0.0033 | 5 | c.128 others(24): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13637814 | A | ATAAAC | downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 302 | 0.0033 | 5 | c.*47 others(16): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 4240 | chrX | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38312243 | A | ATTTTT | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02145.hp2 others(2): Show |
a0002a0008a0010 | a0002c0002a0008c0013a0008c0029others(1): Show | a0002c0002t0002a0008c0013t0002a0008c0029t0002others(2): Show | a0002c0002t0002g0120a0008c0013t0002g0119a0008c0029t0002g0118others(2): Show | 5 | 190 | 0.0263 | 5 | c.98- others(22): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38316076 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG02109.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0002g0144a0001c0001t0004g0001a0001c0001t0004g0116others(6): Show | 9 | 190 | 0.0474 | 5 | c.98- others(22): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55027991 | A | AAATAT | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01106.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0001others(8): Show | a0001c0001t0002g0024a0001c0003t0002g0061a0001c0004t0001g0032others(9): Show | 12 | 250 | 0.0480 | 5 | c.88+ others(20): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55027991 | A | ATATAT | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01167.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0011a0001c0003t0005others(16): Show | a0001c0001t0002g0046a0001c0001t0011g0021a0001c0001t0011g0023others(17): Show | 20 | 250 | 0.0800 | 5 | c.88+ others(20): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55087273 | T | TAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG00741.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(5): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0015others(10): Show | a0001c0001t0002g0046a0001c0003t0001g0100a0001c0003t0015g0229others(10): Show | 13 | 250 | 0.0520 | 5 | c.89- others(22): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55203803 | C | CACACA | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02572.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0055a0001c0003t0001others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0081others(19): Show | 22 | 250 | 0.0880 | 5 | c.327 others(24): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109932376 | T | TATATA | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02622.hp2 others(4): Show |
a0012a0014a0015 | a0012c0014a0014c0017a0015c0018 | a0012c0014t0007a0014c0017t0007a0015c0018t0017 | a0012c0014t0007g0119a0012c0014t0007g0120a0012c0014t0007g0122others(4): Show | 7 | 388 | 0.0180 | 5 | c.128 others(22): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109951146 | A | AAAAAT | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00673.hp1 others(69): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0007a0001c0013others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0059a0001c0001t0002g0060a0001c0001t0002g0061others(69): Show | 72 | 388 | 0.1856 | 5 | c.940 others(22): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109991220 | T | TATATA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(152): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0019a0001c0027others(14): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(44): Show | a0001c0001t0003g0073a0001c0001t0003g0074a0001c0001t0003g0075others(148): Show | 155 | 388 | 0.3995 | 5 | c.273 others(24): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109992170 | T | TAAAAA | intron_variant | MODIFIER | HG02027.hp1 HG02027.hp2 HG02056.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0004a0001c0001t0013a0002c0002t0001others(8): Show | a0001c0001t0004g0019a0001c0001t0004g0326a0001c0001t0004g0331others(25): Show | 28 | 388 | 0.0722 | 5 | c.273 others(24): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGLN2_chr19_40794191_40813434 | 40811623 | C | CTCAGA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01515.hp2 HG01928.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0002g0001a0001c0001t0002g0061 | 4 | 420 | 0.0095 | 5 | c.*37 others(16): Show |
EGLN2 | ENSG00000269858.6 | transcript | ENST00000303961.9 | protein_coding | 3190 | chr19 | TogoVar | ||||||
EGLN3_chr14_33919227_33956074 | 33924941 | T | TAAAAA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00609.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0032others(1): Show | a0001c0001t0005g0028a0001c0001t0005g0049a0001c0001t0005g0085others(15): Show | 20 | 424 | 0.0472 | 5 | c.*94 others(14): Show |
EGLN3 | ENSG00000129521.15 | transcript | ENST00000250457.9 | protein_coding | 5/5 | 949 | chr14 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62889047 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01167.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0137a0001c0001t0001g0178others(2): Show | 5 | 198 | 0.0253 | 5 | c.118 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62957641 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG02155.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0001g0142others(5): Show | 8 | 198 | 0.0404 | 5 | c.246 others(24): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |