view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCC3_chr6_100503194_100886329 | 100608679 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA19030.hp1 NA19043.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0205 a0001c0002t0001g0206 a0003c0004t0001g0209 |
3 | 312 | 0.0096 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100723893 | TATATTTA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01168.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0131 a0003c0005t0002g0148 a0003c0005t0002g0149 others(3): Show |
6 | 312 | 0.0192 | -9 | c.190 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100850540 | ACACCAGA others(2): Show |
A | intron_variant | MODIFIER | NA19058.hp1 NA19078.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0265 a0001c0001t0001g0266 |
3 | 312 | 0.0096 | -9 | c.242 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 3/41 | chr6 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102958393 | CGCAGCAG others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG01168.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0003a0007c0008t0021 | a0007c0008t0003g0001 a0007c0008t0021g0001 |
4 | 222 | 0.0180 | -9 | c.178 others(16): Show |
p.Gln others(11): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1/2 | 749/2481 | 178/711 | 60/236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ASCL1_chr12_102952674_102965513 | 102962454 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01256.hp1 others(9): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0003a0007c0008t0003 | a0001c0001t0003g0001 a0007c0008t0003g0001 |
12 | 339 | 0.0354 | -9 | c.*31 others(20): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1942 | chr12 | TogoVar | |||||||
ASCL4_chr12_107769704_107781644 | 107773043 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(3): Show |
52 | 206 | 0.2524 | -9 | c.-21 others(20): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 1660 | chr12 | TogoVar | |||||||
ASF1A_chr6_118889152_118914171 | 118894980 | AGCGACCC others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 7 | 398 | 0.0176 | -9 | c.109 others(24): Show |
ASF1A | ENSG00000111875.8 | transcript | ENST00000229595.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ASGR1_chr17_7168431_7184370 | 7181824 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0018 others(3): Show |
16 | 144 | 0.1111 | -9 | c.-26 others(20): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 2455 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33032440 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01258.hp1 HG03834.hp1 HG04115.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0013a0002c0003t0001 | a0001c0001t0007g0229 a0001c0001t0007g0233 a0001c0001t0013g0016 others(2): Show |
5 | 63 | 0.0794 | -9 | c.988 others(26): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66074720 | CTTTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0010 a0001c0001t0003g0001 a0001c0001t0003g0005 others(17): Show |
42 | 181 | 0.2320 | -9 | c.-11 others(20): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1098 | chr7 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1616195 | ATTTTTGT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(35): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(35): Show |
38 | 221 | 0.1719 | -9 | c.69+ others(22): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 81973121 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0008t0002 | a0001c0001t0001g0069 a0001c0003t0001g0166 a0001c0008t0002g0009 others(2): Show |
7 | 233 | 0.0300 | -9 | c.-45 others(20): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 4507 | chr17 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp2 HG01123.hp1 others(20): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0077 others(19): Show |
23 | 24 | 0.9583 | -9 | c.491 others(26): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176980461 | TCTATGAG others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02886.hp1 others(7): Show |
a0001a0002 | a0001c0003a0001c0012a0002c0007 | a0001c0003t0001a0001c0003t0002a0001c0003t0019others(3): Show | a0001c0003t0001g0034 a0001c0003t0001g0109 a0001c0003t0002g0018 others(7): Show |
10 | 110 | 0.0909 | -9 | c.152 others(30): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177149163 | TATATAGT others(2): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02965.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0002a0001c0003t0002a0002c0011t0001 | a0001c0001t0002g0012 a0001c0003t0002g0018 a0002c0011t0001g0015 |
3 | 110 | 0.0273 | -9 | c.283 others(28): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116634589 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02922.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0007 a0001c0005t0005g0047 a0001c0005t0005g0076 others(1): Show |
4 | 25 | 0.1600 | -9 | c.307 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116731178 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01169.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0037 others(16): Show |
19 | 28 | 0.6786 | -9 | c.252 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 14/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116802083 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01169.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0034 a0001c0001t0003g0062 a0001c0001t0003g0090 others(8): Show |
11 | 30 | 0.3667 | -9 | c.239 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116865423 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01081.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0001g0015 a0001c0001t0004g0059 a0001c0001t0007g0087 others(14): Show |
17 | 18 | 0.9444 | -9 | c.189 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116936225 | TACCACCA others(2): Show |
T | intron_variant | MODIFIER | HG02698.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0100 a0001c0002t0003g0041 |
2 | 100 | 0.0200 | -9 | c.188 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060485 | GAATGAAA others(2): Show |
G | intron_variant | MODIFIER | HG02559.hp1 NA19065.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0007a0001c0002t0003a0001c0009t0004 | a0001c0001t0007g0087 a0001c0002t0003g0022 a0001c0009t0004g0032 |
3 | 83 | 0.0361 | -9 | c.127 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117116834 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01934.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(1): Show | a0001c0001t0002g0040 a0001c0001t0003g0090 a0001c0002t0004g0029 others(1): Show |
4 | 18 | 0.2222 | -9 | c.116 others(30): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117361968 | GTTTGTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01081.hp2 others(10): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0034 a0001c0001t0002g0040 a0001c0001t0004g0059 others(10): Show |
13 | 100 | 0.1300 | -9 | c.442 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32379161 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp1 others(18): Show |
a0001a0004a0009 | a0001c0001a0001c0020a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0020t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0043 others(17): Show |
21 | 42 | 0.5000 | -9 | c.252 others(28): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32411038 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01175.hp1 others(14): Show |
a0001a0004a0008 | a0001c0002a0001c0017a0004c0006others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0017t0010others(2): Show | a0001c0002t0002g0020 a0001c0002t0002g0193 a0001c0002t0002g0201 others(14): Show |
17 | 280 | 0.0607 | -9 | c.253 others(28): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32418809 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(35): Show |
a0001a0004a0009 | a0001c0001a0004c0006a0004c0025others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0019 others(34): Show |
38 | 58 | 0.6552 | -9 | c.253 others(26): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33578458 | CCCGCCGC others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00673.hp1 HG03130.hp2 HG03225.hp2 others(6): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0194 a0001c0001t0002g0007 a0001c0001t0006g0191 others(6): Show |
9 | 51 | 0.1765 | -9 | c.-14 others(18): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/12 | 133 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33636340 | AACAACAG others(2): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG03195.hp2 |
a0001a0006 | a0001c0001a0006c0025 | a0001c0001t0001a0006c0025t0041 | a0001c0001t0001g0093 a0006c0025t0041g0005 |
2 | 218 | 0.0092 | -9 | c.138 others(26): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATAD2_chr8_123314850_123401447 | 123329981 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 HG02647.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0252 a0002c0003t0001g0251 a0002c0003t0001g0253 others(7): Show |
10 | 26 | 0.3846 | -9 | c.347 others(28): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 24/27 | chr8 | TogoVar | |||||||
ATAT1_chr6_30621874_30651821 | 30622561 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp1 others(15): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0060 others(13): Show |
18 | 328 | 0.0549 | -9 | c.-43 others(20): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 4312 | chr6 | TogoVar | |||||||
ATE1_chr10_121735424_121933031 | 121826252 | CTTAAAAG others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(222): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 others(222): Show |
225 | 318 | 0.7075 | -9 | c.125 others(30): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 10/11 | chr10 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175140999 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp2 HG01168.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0162 a0001c0001t0002g0164 others(11): Show |
15 | 87 | 0.1724 | -9 | c.-43 others(26): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
ATF6_chr1_161761320_161969070 | 161786108 | TGGGATTA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(73): Show | a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0004g0162 others(315): Show |
323 | 330 | 0.9788 | -9 | c.354 others(26): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF6_chr1_161761320_161969070 | 161812371 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG02735.hp1 HG02895.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0004others(1): Show | a0001c0002t0039a0001c0002t0045a0002c0003t0002others(3): Show | a0001c0002t0039g0031 a0001c0002t0045g0053 a0002c0003t0002g0241 others(5): Show |
8 | 21 | 0.3810 | -9 | c.910 others(26): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14460457 | TAACCATT others(2): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp2 HG02451.hp2 others(11): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0035a0003c0005t0007a0003c0005t0038others(1): Show | a0003c0003t0035g0340 a0003c0005t0007g0322 a0003c0005t0007g0323 others(11): Show |
14 | 344 | 0.0407 | -9 | c.215 others(24): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53526315 | CCCTCCTC others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03225.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(1): Show |
4 | 328 | 0.0122 | -9 | c.928 others(26): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 9/11 | chr12 | TogoVar | |||||||
ATF7_chr12_53507054_53631382 | 53622304 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02698.hp2 HG02886.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(9): Show |
12 | 32 | 0.3750 | -9 | c.-22 others(26): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 1/11 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993292 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01346.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(5): Show | a0001c0001t0001g0009 a0001c0001t0003g0051 a0001c0001t0003g0111 others(8): Show |
11 | 224 | 0.0491 | -9 | c.108 others(26): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG13_chr11_46612553_46679518 | 46642304 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01074.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 others(34): Show |
38 | 80 | 0.4750 | -9 | c.-13 others(26): Show |
ATG13 | ENSG00000175224.17 | transcript | ENST00000683050.1 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55380249 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0137 others(12): Show |
18 | 216 | 0.0833 | -9 | c.995 others(24): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 7/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402925 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp2 HG02109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0015 | a0001c0001t0002g0134 a0001c0001t0003g0023 a0001c0001t0003g0201 others(3): Show |
6 | 349 | 0.0172 | -9 | c.222 others(26): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402927 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02897.hp1 HG03669.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0023a0004c0005t0003 | a0001c0001t0003g0130 a0001c0001t0003g0171 a0001c0001t0003g0318 others(2): Show |
5 | 340 | 0.0147 | -9 | c.222 others(26): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55413655 | ACTCAGAC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01358.hp1 others(12): Show |
a0002 | a0002c0003a0002c0007a0002c0008 | a0002c0003t0002a0002c0003t0009a0002c0003t0011others(5): Show | a0002c0003t0002g0040 a0002c0003t0009g0009 a0002c0003t0009g0032 others(10): Show |
15 | 364 | 0.0412 | -9 | c.-18 others(20): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1826 | chr14 | TogoVar | |||||||
ATG16L1_chr2_233246673_233300669 | 233258017 | ATATCTAT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01192.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0256 |
3 | 348 | 0.0086 | -9 | c.209 others(26): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
ATG4B_chr2_241632693_241678857 | 241642871 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01496.hp2 HG01515.hp1 others(24): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0001c0006others(2): Show | a0001c0002t0002a0001c0005t0002a0001c0006t0002others(6): Show | a0001c0002t0002g0161 a0001c0005t0002g0090 a0001c0005t0002g0092 others(22): Show |
27 | 89 | 0.3034 | -9 | c.10+ others(24): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATG4C_chr1_62779132_62870516 | 62801958 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02622.hp2 HG02886.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0015 others(8): Show |
12 | 131 | 0.0916 | -9 | c.-68 others(26): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11374892 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(102): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(102): Show |
105 | 127 | 0.8268 | -9 | c.187 others(28): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11506576 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01978.hp1 HG02027.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0220 a0001c0001t0002g0213 others(7): Show |
10 | 289 | 0.0346 | -9 | c.208 others(30): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01070.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0009others(3): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0010g0164 others(7): Show |
10 | 74 | 0.1351 | -9 | c.208 others(30): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215341359 | CTAAGGTT others(2): Show |
C | intron_variant | MODIFIER | NA18942.hp1 NA18948.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0136 |
3 | 380 | 0.0079 | -9 | c.122 others(28): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |