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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFR3B_chr2_25037076_25164135 | 25124277 | AGTGTGT | A | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(5): Show | a0001c0001t0001g0172a0001c0001t0002g0040a0001c0001t0002g0120others(11): Show | 14 | 306 | 0.0458 | -6 | c.485 others(23): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25128960 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0127a0001c0001t0001g0141a0001c0001t0001g0162others(28): Show | 31 | 306 | 0.1013 | -6 | c.635 others(21): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25148921 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(44): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(7): Show | a0001c0001t0003g0069a0001c0001t0003g0072a0001c0001t0003g0073others(44): Show | 47 | 306 | 0.1536 | -6 | c.214 others(23): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFTUD2_chr17_44844948_44904445 | 44877815 | AAACAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0056a0001c0001t0002g0033a0001c0001t0002g0040others(45): Show | 51 | 370 | 0.1378 | -6 | c.703 others(23): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 9/27 | chr17 | TogoVar | ||||||
EFTUD2_chr17_44844948_44904445 | 44888061 | CTACAGG | C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(60): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0311a0001c0001t0003g0260a0001c0001t0003g0261others(60): Show | 63 | 370 | 0.1703 | -6 | c.106 others(23): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 2/27 | chr17 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13577298 | TTATATA | T | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 302 | 0.0033 | -6 | c.74+ others(21): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13598558 | AGTTGTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(127): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0019a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0059others(125): Show | 130 | 302 | 0.4305 | -6 | c.281 others(23): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13616265 | CCTTAAT | C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0294 | 1 | 302 | 0.0033 | -6 | c.779 others(23): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13623377 | GTTTTTT | G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 302 | 0.0033 | -6 | c.118 others(23): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38328723 | GTTTTTT | G | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
a0002a0003a0008others(2): Show | a0002c0002a0002c0009a0003c0003others(6): Show | a0002c0002t0002a0002c0002t0011a0002c0009t0001others(10): Show | a0002c0002t0002g0120a0002c0002t0011g0114a0002c0009t0001g0074others(10): Show | 13 | 190 | 0.0684 | -6 | c.98- others(21): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38349773 | GCACACA | G | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp1 HG03516.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0003 | a0001c0001t0001a0001c0001t0024a0001c0010t0001others(2): Show | a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0184others(4): Show | 7 | 190 | 0.0368 | -6 | c.292 others(21): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38349952 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01167.hp1 others(46): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0051a0001c0001t0001g0054a0001c0001t0001g0100others(46): Show | 49 | 190 | 0.2579 | -6 | c.292 others(21): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38396257 | GGAGAGA | G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp1 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0009others(6): Show | a0001c0001t0006a0001c0010t0001a0001c0010t0006others(9): Show | a0001c0001t0006g0106a0001c0010t0001g0089a0001c0010t0001g0108others(10): Show | 13 | 190 | 0.0684 | -6 | c.713 others(23): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38448233 | CATGTGT | C | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG06807.hp2 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0008a0004c0004others(1): Show | a0001c0001t0001a0003c0008t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0002a0003c0008t0002g0152a0004c0004t0001g0092others(1): Show | 4 | 190 | 0.0211 | -6 | c.246 others(21): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 17/21 | chr5 | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38464554 | GAATCAT | G | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02922.hp1 |
a0004a0012 | a0004c0031a0012c0014 | a0004c0031t0013a0012c0014t0013a0012c0014t0027 | a0004c0031t0013g0157a0012c0014t0013g0007a0012c0014t0027g0126 | 3 | 190 | 0.0158 | -6 | c.*57 others(15): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 22/22 | 578 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
EGFR_chr7_55014017_55216628 | 55028021 | TATATAC | T | intron_variant | MODIFIER | HG03041.hp2 HG03471.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0023 | a0001c0001t0003a0001c0004t0016a0001c0004t0025others(1): Show | a0001c0001t0003g0077a0001c0004t0016g0076a0001c0004t0025g0016others(1): Show | 4 | 250 | 0.0160 | -6 | c.88+ others(21): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55086354 | CTCCCTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(45): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(34): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0081others(45): Show | 48 | 250 | 0.1920 | -6 | c.89- others(23): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55091847 | AACACAC | A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp1 others(57): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(44): Show | a0001c0001t0001g0081a0001c0001t0001g0170a0001c0001t0001g0247others(56): Show | 60 | 250 | 0.2400 | -6 | c.89- others(23): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109919287 | GTCTCTC | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(31): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0007a0001c0013others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0002g0064a0001c0001t0002g0066a0001c0001t0002g0068others(30): Show | 34 | 388 | 0.0876 | -6 | c.127 others(23): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109927806 | CGTGTGT | C | intron_variant | MODIFIER | HG00738.hp1 HG01515.hp2 HG01891.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0004a0001c0001t0012a0001c0001t0015others(5): Show | a0001c0001t0004g0019a0001c0001t0012g0376a0001c0001t0015g0378others(5): Show | 8 | 388 | 0.0206 | -6 | c.128 others(25): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EGLN1_chr1_231358756_231427287 | 231373698 | GTGTGTA | G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02723.hp2 others(5): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0006 | a0001c0001t0002a0001c0001t0010a0001c0001t0017others(2): Show | a0001c0001t0002g0140a0001c0001t0002g0141a0001c0001t0010g0149others(5): Show | 8 | 338 | 0.0237 | -6 | c.101 others(23): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
EGLN3_chr14_33919227_33956074 | 33935586 | TACACAC | T | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00673.hp2 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0009others(65): Show | 114 | 424 | 0.2689 | -6 | c.358 others(23): Show |
EGLN3 | ENSG00000129521.15 | transcript | ENST00000250457.9 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
EGLN3_chr14_33919227_33956074 | 33935616 | CACACAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0245a0001c0001t0002g0227a0001c0001t0003g0004others(37): Show | 65 | 424 | 0.1533 | -6 | c.358 others(23): Show |
EGLN3 | ENSG00000129521.15 | transcript | ENST00000250457.9 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62773850 | CAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02717.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0009 | a0001c0001t0001a0001c0008t0001a0004c0009t0001 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0077others(4): Show | 7 | 198 | 0.0354 | -6 | c.312 others(23): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62820737 | AATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(11): Show | 14 | 198 | 0.0707 | -6 | c.313 others(23): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62879546 | AACACAC | A | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0005 | a0001c0001t0001a0001c0008t0001a0003c0005t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0044others(7): Show | 10 | 198 | 0.0505 | -6 | c.118 others(25): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62903785 | GAGGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(92): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(92): Show | 95 | 198 | 0.4798 | -6 | c.118 others(27): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62975887 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00738.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0001g0032others(15): Show | 18 | 198 | 0.0909 | -6 | c.246 others(25): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62997427 | CATGTGT | C | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01123.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0021a0001c0001t0001g0041others(6): Show | 9 | 198 | 0.0455 | -6 | c.310 others(23): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 63026294 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp2 others(23): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0003t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(23): Show | 26 | 198 | 0.1313 | -6 | c.310 others(27): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63027738 | CTTATAT | C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009a0002c0002t0001g0010 | 2 | 198 | 0.0101 | -6 | c.310 others(25): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 63043920 | CTTTTTT | C | intron_variant | MODIFIER | HG01361.hp2 HG02602.hp1 HG03710.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0156a0001c0001t0001g0173a0002c0002t0001g0011others(2): Show | 5 | 198 | 0.0253 | -6 | c.327 others(25): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47711708 | AAAAACC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(272): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(33): Show | a0001c0001t0001g0017a0001c0001t0001g0022a0001c0001t0001g0026others(268): Show | 275 | 398 | 0.6910 | -6 | c.-18 others(17): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 1713 | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47721162 | GGGGTGT | G | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0006a0001c0004t0003others(5): Show | a0001c0001t0001g0166a0001c0001t0001g0302a0001c0002t0006g0024others(10): Show | 13 | 398 | 0.0327 | -6 | c.502 others(23): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47722009 | AACACAC | A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02523.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0196a0001c0001t0001g0348a0001c0001t0001g0371others(10): Show | 13 | 398 | 0.0327 | -6 | c.502 others(23): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47724981 | CAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01255.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0001g0059a0001c0001t0001g0077a0001c0001t0001g0113others(17): Show | 20 | 398 | 0.0503 | -6 | c.503 others(21): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47743417 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02976.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0004t0003others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0093a0001c0002t0003g0287others(3): Show | 6 | 398 | 0.0151 | -6 | c.*19 others(17): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 284 | chr19 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31253246 | CCACACA | C | intron_variant | MODIFIER | HG02040.hp1 HG02071.hp1 HG03491.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(2): Show | a0001c0001t0003g0202a0001c0001t0011g0213a0001c0001t0011g0219others(6): Show | 9 | 378 | 0.0238 | -6 | c.502 others(23): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31266761 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00642.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(14): Show | a0001c0001t0002g0023a0001c0001t0002g0109a0001c0001t0002g0121others(53): Show | 58 | 378 | 0.1534 | -6 | c.*85 others(13): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 6/6 | 85 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
EHD4_chr15_41890933_41977557 | 41903453 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0047a0001c0002t0001others(18): Show | a0001c0001t0003g0312a0001c0001t0047g0180a0001c0002t0001g0064others(70): Show | 75 | 360 | 0.2083 | -6 | c.109 others(25): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41907868 | GTGTATA | G | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0023others(6): Show | a0001c0002t0002g0187a0001c0002t0002g0191a0001c0002t0003g0022others(15): Show | 18 | 360 | 0.0500 | -6 | c.108 others(25): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41915085 | GACACAC | G | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01192.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(2): Show | a0001c0001t0001g0147a0001c0001t0001g0311a0001c0001t0001g0337others(34): Show | 37 | 360 | 0.1028 | -6 | c.924 others(23): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41918238 | ACACACG | A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0038a0001c0002t0053 | a0001c0002t0013g0038a0001c0002t0013g0040a0001c0002t0013g0099others(2): Show | 5 | 360 | 0.0139 | -6 | c.924 others(21): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41936914 | TCCAGGA | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0002t0005a0001c0002t0013others(3): Show | a0001c0002t0004g0041a0001c0002t0004g0043a0001c0002t0005g0042others(5): Show | 8 | 360 | 0.0222 | -6 | c.511 others(23): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41949016 | CTATATA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0095others(37): Show | 42 | 360 | 0.1167 | -6 | c.413 others(23): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41951002 | ACTAACC | A | intron_variant | MODIFIER | HG00642.hp1 HG02572.hp1 HG02622.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0011others(6): Show | a0001c0001t0001g0211a0001c0001t0002g0029a0001c0002t0011g0032others(7): Show | 10 | 360 | 0.0278 | -6 | c.413 others(23): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
EHF_chr11_34616093_34668288 | 34646027 | GGTGTGT | G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0121others(44): Show | 48 | 410 | 0.1171 | -6 | c.98- others(19): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EHHADH_chr3_185185624_185259049 | 185194609 | TAACAAC | T | intron_variant | MODIFIER | HG00597.hp1 HG02257.hp1 HG02258.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0003others(4): Show | a0001c0001t0001g0197a0001c0001t0001g0270a0001c0001t0001g0273others(17): Show | 21 | 348 | 0.0603 | -6 | c.911 others(23): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 6/6 | chr3 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137718740 | CTCTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG03041.hp1 NA18979.hp2 |
a0001a0003 | a0001c0004a0001c0011a0003c0023 | a0001c0004t0001a0001c0011t0001a0003c0023t0001 | a0001c0004t0001g0169a0001c0011t0001g0034a0003c0023t0001g0075 | 3 | 170 | 0.0177 | -6 | c.642 others(23): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137742289 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0041others(11): Show | 14 | 170 | 0.0824 | -6 | c.824 others(23): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |