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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFNA5_chr5_107371894_107675937 | 107380373 | TTAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00621.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0089a0001c0001t0090others(3): Show | a0001c0001t0010g0050a0001c0001t0010g0137a0001c0001t0010g0141others(6): Show | 9 | 190 | 0.0474 | -5 | c.*87 others(14): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 877 | chr5 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107399318 | CGGAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00621.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0078a0001c0001t0001g0133a0001c0001t0001g0139others(26): Show | 29 | 190 | 0.1526 | -5 | c.419 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107535556 | TTATTA | T | intron_variant | MODIFIER | HG02559.hp2 HG03195.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0045others(2): Show | a0001c0001t0001g0090a0001c0001t0019g0145a0001c0001t0045g0026others(2): Show | 5 | 190 | 0.0263 | -5 | c.126 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107569834 | CAAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp1 HG02486.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(9): Show | a0001c0001t0003g0068a0001c0001t0004g0004a0001c0001t0013g0113others(9): Show | 12 | 190 | 0.0632 | -5 | c.125 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107591994 | TATATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0098a0001c0001t0001g0133a0001c0001t0001g0185others(22): Show | 25 | 190 | 0.1316 | -5 | c.125 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107609122 | GTTAAA | G | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0034a0001c0001t0049others(1): Show | a0001c0001t0003g0130a0001c0001t0034g0131a0001c0001t0049g0009others(1): Show | 4 | 190 | 0.0211 | -5 | c.125 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107629325 | GTCCTT | G | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0022 | a0001c0001t0001g0090a0001c0001t0006g0089a0001c0001t0022g0114 | 3 | 190 | 0.0158 | -5 | c.125 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNB1_chrX_68824021_68847160 | 68838091 | TGGTGA | T | intron_variant | MODIFIER | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | -5 | c.129 others(20): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | chrX | TogoVar | ||||||
EFNB1_chrX_68824021_68847160 | 68838177 | GCGCGC | G | intron_variant | MODIFIER | NA18989.hp1 | a0005 | a0005c0004 | a0005c0004t0024 | a0005c0004t0024g0137 | 1 | 335 | 0.0030 | -5 | c.129 others(20): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | chrX | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 131954678 | ATAAAT | A | intron_variant | MODIFIER | NA18964.hp1 NA18977.hp1 NA19003.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0307a0002c0002t0002g0308a0002c0002t0002g0309others(1): Show | 4 | 412 | 0.0097 | -5 | c.638 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 131969524 | GTTTTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01943.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0008a0003c0004t0017 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0135others(13): Show | 16 | 412 | 0.0388 | -5 | c.992 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132008846 | CAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0100others(6): Show | 11 | 412 | 0.0267 | -5 | c.236 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25040886 | CAAAAG | C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017 | a0001c0001t0016g0150a0001c0001t0016g0153a0001c0001t0017g0152 | 3 | 306 | 0.0098 | -5 | c.-14 others(16): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1189 | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25041238 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0219a0001c0001t0002g0224a0001c0001t0002g0249others(14): Show | 17 | 306 | 0.0556 | -5 | c.-10 others(16): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 837 | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25059572 | CGGGGG | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(48): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0002g0091a0001c0001t0002g0120a0001c0001t0003g0072others(48): Show | 51 | 306 | 0.1667 | -5 | c.7+1 others(20): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25113667 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0219a0001c0001t0002g0001a0001c0001t0002g0021others(74): Show | 77 | 306 | 0.2516 | -5 | c.364 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25118726 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(31): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0002g0294a0001c0001t0003g0074a0001c0001t0003g0076others(31): Show | 34 | 306 | 0.1111 | -5 | c.364 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25128960 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01243.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(7): Show | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0134others(28): Show | 31 | 306 | 0.1013 | -5 | c.635 others(20): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25148921 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(130): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0127a0001c0001t0001g0130a0001c0001t0001g0131others(130): Show | 133 | 306 | 0.4346 | -5 | c.214 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFS_chr14_23351406_23370172 | 23353847 | CTCTGT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG02257.hp1 others(35): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0002others(1): Show | a0001c0001t0001g0001a0002c0002t0002g0002a0002c0003t0002g0003others(3): Show | 38 | 404 | 0.0941 | -5 | c.*33 others(16): Show |
EFS | ENSG00000100842.13 | transcript | ENST00000216733.8 | protein_coding | 2558 | chr14 | TogoVar | ||||||
EFTUD2_chr17_44844948_44904445 | 44901720 | ATTTTG | A | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02809.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0339a0001c0001t0001g0340a0001c0001t0013g0166 | 3 | 370 | 0.0081 | -5 | c.-23 others(16): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 2276 | chr17 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13622211 | AGAAAG | A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01167.hp1 others(47): Show |
a0001a0002a0012 | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0220a0001c0001t0001g0221a0001c0001t0002g0073others(45): Show | 50 | 302 | 0.1656 | -5 | c.118 others(24): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13631815 | TAAAAC | T | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG03516.hp2 others(1): Show |
a0002a0010 | a0002c0003a0010c0016 | a0002c0003t0004a0002c0003t0006a0010c0016t0004 | a0002c0003t0004g0284a0002c0003t0004g0285a0002c0003t0006g0037others(1): Show | 4 | 302 | 0.0133 | -5 | c.155 others(24): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13637681 | TCGAGG | T | downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 302 | 0.0033 | -5 | c.*45 others(16): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 4107 | chrX | TogoVar | ||||||
EGFL8_chr6_32159595_32173281 | 32165613 | TACAAA | T | intron_variant | MODIFIER | HG01934.hp2 HG01975.hp1 HG01993.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 7 | 433 | 0.0162 | -5 | c.-28 others(20): Show |
EGFL8 | ENSG00000241404.7 | transcript | ENST00000333845.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38277770 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00597.hp2 others(73): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0049others(73): Show | 76 | 190 | 0.4000 | -5 | c.97+ others(22): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38328723 | GTTTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00735.hp1 others(82): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0032a0001c0001t0001g0046a0001c0001t0001g0047others(82): Show | 85 | 190 | 0.4474 | -5 | c.98- others(20): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38343406 | CAAAAA | C | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp2 HG03225.hp1 others(4): Show |
a0002a0003 | a0002c0002a0002c0009a0003c0003 | a0002c0002t0001a0002c0009t0001a0003c0003t0008 | a0002c0002t0001g0075a0002c0002t0001g0077a0002c0002t0001g0079others(4): Show | 7 | 190 | 0.0368 | -5 | c.291 others(22): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38399277 | GTTTTT | G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp1 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(8): Show | a0001c0001t0006a0001c0010t0001a0001c0010t0006others(11): Show | a0001c0001t0006g0106a0001c0010t0001g0089a0001c0010t0001g0108others(12): Show | 15 | 190 | 0.0790 | -5 | c.713 others(22): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55027990 | AAATAT | A | intron_variant | MODIFIER | HG02083.hp2 HG02165.hp1 NA18965.hp1 others(2): Show |
a0001a0002 | a0001c0013a0002c0002a0002c0018 | a0001c0013t0053a0002c0002t0001a0002c0018t0007 | a0001c0013t0053g0135a0002c0002t0001g0122a0002c0002t0001g0133others(2): Show | 5 | 250 | 0.0200 | -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 | 55030206 | ATTGGG | A | intron_variant | MODIFIER | HG03041.hp2 HG03471.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0023 | a0001c0001t0003a0001c0001t0022a0001c0004t0016others(2): Show | a0001c0001t0003g0077a0001c0001t0022g0015a0001c0004t0016g0076others(2): Show | 5 | 250 | 0.0200 | -5 | c.88+ others(22): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55091886 | ACACAC | A | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0008 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0004t0008g0070 | 3 | 250 | 0.0120 | -5 | c.89- others(22): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109951146 | AAAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(117): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0027a0001c0033others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(41): Show | a0001c0001t0002g0078a0001c0001t0002g0080a0001c0001t0004g0019others(115): Show | 120 | 388 | 0.3093 | -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 | 109982629 | TTTTTC | T | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp2 HG02965.hp1 others(1): Show |
a0015a0016a0025 | a0015c0018a0016c0034a0025c0035 | a0015c0018t0017a0016c0034t0020a0025c0035t0017 | a0015c0018t0017g0058a0015c0018t0017g0117a0016c0034t0020g0375others(1): Show | 4 | 388 | 0.0103 | -5 | c.237 others(22): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGLN1_chr1_231358756_231427287 | 231391468 | CTTCCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(146): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(142): Show | 149 | 338 | 0.4408 | -5 | c.892 others(24): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
EGLN2_chr19_40794191_40813434 | 40801616 | ATAAGC | A | intron_variant | MODIFIER | HG02257.hp2 HG03098.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0049 | 5 | 420 | 0.0119 | -5 | c.843 others(20): Show |
EGLN2 | ENSG00000269858.6 | transcript | ENST00000303961.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EGR1_chr5_138460479_138474303 | 138463202 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(109): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0002g0002others(3): Show | 112 | 360 | 0.3111 | -5 | c.-25 others(16): Show |
EGR1 | ENSG00000120738.8 | transcript | ENST00000239938.5 | protein_coding | 2276 | chr5 | TogoVar | ||||||
EHBP1L1_chr11_65571053_65597650 | 65587371 | CAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0003a0001c0042 | a0001c0003t0002a0001c0042t0002 | a0001c0003t0002g0013a0001c0003t0002g0021a0001c0003t0002g0074others(1): Show | 9 | 412 | 0.0218 | -5 | c.393 others(24): Show |
EHBP1L1 | ENSG00000173442.13 | transcript | ENST00000309295.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EHBP1L1_chr11_65571053_65597650 | 65592901 | CACCCT | C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG03139.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0015 | 3 | 412 | 0.0073 | -5 | c.*60 others(14): Show |
EHBP1L1 | ENSG00000173442.13 | transcript | ENST00000309295.9 | protein_coding | 252 | chr11 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62729615 | TAAATA | T | intron_variant | MODIFIER | HG02040.hp2 NA19010.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0154 | 3 | 198 | 0.0152 | -5 | c.105 others(24): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62956688 | GAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(53): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(53): Show | 56 | 198 | 0.2828 | -5 | c.246 others(24): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63043920 | CTTTTT | C | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp2 HG01496.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0140a0001c0001t0001g0175others(6): Show | 9 | 198 | 0.0455 | -5 | c.327 others(24): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47721171 | GTGTGT | G | intron_variant | MODIFIER | HG01074.hp2 HG02145.hp1 HG02145.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(12): Show | a0001c0001t0001g0022a0001c0001t0001g0338a0001c0001t0001g0348others(30): Show | 33 | 398 | 0.0829 | -5 | c.502 others(22): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47724981 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(47): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0002others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0050a0001c0001t0001g0052others(47): Show | 50 | 398 | 0.1256 | -5 | c.503 others(20): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47731280 | ATATAT | A | intron_variant | MODIFIER | HG02280.hp1 HG03579.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0024a0001c0002t0006g0303a0001c0002t0006g0305 | 3 | 398 | 0.0075 | -5 | c.915 others(22): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47739274 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01069.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0004t0002others(4): Show | a0001c0001t0001g0042a0001c0001t0001g0051a0001c0001t0001g0052others(26): Show | 30 | 398 | 0.0754 | -5 | c.108 others(24): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47747779 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02622.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0010a0001c0002t0003a0001c0002t0008others(4): Show | a0001c0001t0010g0299a0001c0001t0010g0345a0001c0001t0010g0351others(12): Show | 16 | 398 | 0.0402 | -5 | c.*63 others(16): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4646 | chr19 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31243447 | TCTTTC | T | intron_variant | MODIFIER | HG03831.hp2 NA18951.hp2 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0010a0001c0001t0001g0137a0001c0001t0008g0138 | 4 | 378 | 0.0106 | -5 | c.228 others(20): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41961897 | TAAGAG | T | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02280.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019others(12): Show | 16 | 360 | 0.0444 | -5 | c.237 others(22): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185217760 | ATTTTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0004others(8): Show | a0001c0001a0002c0002a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0130others(191): Show | 201 | 348 | 0.5776 | -5 | c.568 others(20): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 5/6 | chr3 | TogoVar |