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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB5_chr4_176208673_176274222 | 176218817 | TATATATG others(12): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 408 | 0.0025 | -19 | c.671 others(36): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218936 | TATATATG others(12): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 408 | 0.0049 | -19 | c.671 others(36): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219243 | TATATATG others(12): Show |
T | intron_variant | MODIFIER | HG00597.hp1 NA18939.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0320 |
3 | 408 | 0.0074 | -19 | c.670 others(36): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219556 | AATATGTA others(12): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01928.hp1 HG02015.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0019a0001c0004t0001 | a0001c0001t0001g0133 a0001c0001t0001g0222 a0001c0001t0001g0223 others(4): Show |
7 | 404 | 0.0173 | -19 | c.670 others(36): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218162 | AAAAATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01358.hp1 HG02683.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0214 others(1): Show |
4 | 205 | 0.0195 | -19 | c.-20 others(30): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1887 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218164 | AAATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp2 HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 |
3 | 210 | 0.0143 | -19 | c.-20 others(30): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1889 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218166 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG03130.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002 | a0001c0001t0001g0145 a0001c0001t0002g0111 a0001c0001t0002g0143 others(1): Show |
4 | 186 | 0.0215 | -19 | c.-20 others(30): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1891 | chr10 | TogoVar | |||||||
ASCL4_chr12_107769704_107781644 | 107780693 | GACAAGGC others(12): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 460 | 0.0022 | -19 | c.*49 others(30): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 4050 | chr12 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33155397 | CTTCTAAC others(12): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0161 | 1 | 238 | 0.0042 | -19 | c.709 others(38): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1443594 | TTGGACAG others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(64): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0002c0003others(11): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0002others(11): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(63): Show |
67 | 182 | 0.3681 | -19 | c.94- others(34): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1443632 | GTGGACAG others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(95): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0012others(27): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0001g0080 others(95): Show |
98 | 183 | 0.5355 | -19 | c.94- others(34): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1443639 | GACACCGC others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02630.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0010a0001c0012a0002c0003others(7): Show | a0001c0010t0001a0001c0012t0001a0002c0003t0001others(7): Show | a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 others(10): Show |
14 | 181 | 0.0773 | -19 | c.94- others(34): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1443859 | ATCGTGGA others(12): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0101 | 1 | 183 | 0.0055 | -19 | c.94- others(34): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1646643 | TCTCTTTC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp1 NA19030.hp1 |
a0003a0009 | a0003c0005a0009c0013 | a0003c0005t0001a0009c0013t0001 | a0003c0005t0001g0202 a0009c0013t0001g0048 |
2 | 221 | 0.0090 | -19 | c.*36 others(30): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3563 | chrX | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3499530 | ATGTGCTC others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01069.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0015a0001c0001t0049others(3): Show | a0001c0001t0006g0139 a0001c0001t0006g0167 a0001c0001t0006g0197 others(21): Show |
28 | 448 | 0.0625 | -19 | c.*44 others(28): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 6/6 | 447 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPDH_chr19_50506603_50518913 | 50506781 | CCCACCCA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00639.hp1 others(21): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show |
24 | 370 | 0.0649 | -19 | c.*49 others(30): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 4821 | chr19 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 81984939 | GCACACAC others(12): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp1 HG01361.hp1 others(13): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0001a0001c0014t0001 | a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0177 others(11): Show |
16 | 364 | 0.0440 | -19 | c.274 others(34): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116499302 | AAAGGTCG others(12): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0002g0018 others(3): Show |
6 | 100 | 0.0600 | -19 | c.335 others(40): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116791020 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0022 | 1 | 100 | 0.0100 | -19 | c.239 others(40): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116803501 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0088 | 1 | 100 | 0.0100 | -19 | c.239 others(38): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116803504 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0081 | 1 | 99 | 0.0101 | -19 | c.239 others(38): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116999548 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0004a0001c0001t0008a0001c0002t0001others(9): Show | a0001c0001t0004g0059 a0001c0001t0008g0064 a0001c0002t0001g0042 others(17): Show |
20 | 25 | 0.8000 | -19 | c.159 others(38): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117210918 | CATCAATA others(12): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0003 | 1 | 100 | 0.0100 | -19 | c.101 others(38): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32379161 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(90): Show |
a0001a0003a0008others(4): Show | a0001c0002a0001c0017a0003c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(11): Show | a0001c0002t0001g0240 a0001c0002t0001g0253 a0001c0002t0002g0014 others(90): Show |
93 | 114 | 0.8158 | -19 | c.252 others(38): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33600511 | GAAGTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02647.hp1 others(10): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0008a0001c0017others(4): Show | a0001c0001t0002a0001c0001t0028a0001c0008t0040others(5): Show | a0001c0001t0002g0183 a0001c0001t0028g0189 a0001c0008t0040g0219 others(10): Show |
13 | 218 | 0.0596 | -19 | c.55- others(34): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33713228 | GGTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02965.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0005g0016 others(2): Show |
5 | 218 | 0.0229 | -19 | c.880 others(38): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATAD3A_chr1_1507162_1539685 | 1535041 | ACCTGCCC others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02735.hp2 HG03710.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0007a0001c0003t0027 | a0001c0003t0002g0227 a0001c0003t0007g0307 a0001c0003t0027g0308 |
3 | 419 | 0.0072 | -19 | c.*97 others(28): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 357 | chr1 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30850853 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0097 | 1 | 280 | 0.0036 | -19 | c.245 others(38): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30850855 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03041.hp2 HG03225.hp1 |
a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0094 a0004c0003t0004g0098 a0004c0003t0004g0099 |
3 | 280 | 0.0107 | -19 | c.245 others(38): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATAD5_chr17_30826966_30900869 | 30872529 | CTTTTTCT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp1 others(42): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0007a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(41): Show |
45 | 283 | 0.1590 | -19 | c.360 others(38): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3879502 | AAAAAAAG others(12): Show |
A | upstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0371 | 1 | 374 | 0.0027 | -19 | c.-15 others(30): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1182 | chr19 | TogoVar | |||||||
ATCAY_chr19_3875685_3933082 | 3879506 | AAAGAAAG others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02071.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0245 a0001c0001t0001g0320 a0001c0001t0002g0232 others(6): Show |
9 | 241 | 0.0373 | -19 | c.-15 others(30): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1178 | chr19 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175087019 | AAAATAAA others(12): Show |
A | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 222 | 0.0045 | -19 | c.118 others(38): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 12/13 | chr2 | TogoVar | |||||||
ATF6_chr1_161761320_161969070 | 161812371 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG03041.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0166 a0001c0001t0004g0188 a0001c0001t0004g0199 others(2): Show |
5 | 18 | 0.2778 | -19 | c.910 others(36): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF7IP2_chr16_10381061_10488638 | 10449693 | TCTTTTCT others(12): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0149 | 1 | 374 | 0.0027 | -19 | c.119 others(38): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 8/13 | chr16 | TogoVar | |||||||
ATF7IP2_chr16_10381061_10488638 | 10454408 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00673.hp1 others(54): Show |
a0001a0002a0003 | a0001c0005a0002c0001a0002c0008others(7): Show | a0001c0005t0006a0001c0005t0016a0002c0001t0001others(9): Show | a0001c0005t0006g0005 a0001c0005t0006g0029 a0001c0005t0006g0030 others(52): Show |
57 | 223 | 0.2556 | -19 | c.119 others(38): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATF7IP2_chr16_10381061_10488638 | 10479958 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0237 | 1 | 27 | 0.0370 | -19 | c.155 others(36): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14477374 | ATTATCTC others(12): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 344 | 0.0029 | -19 | c.294 others(36): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53579344 | CCAAAATA others(12): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 328 | 0.0030 | -19 | c.48+ others(36): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82258848 | ACACATAG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0120 | 1 | 224 | 0.0045 | -19 | c.*47 others(30): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2716 | chr5 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402915 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0181 | 1 | 361 | 0.0028 | -19 | c.222 others(36): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402919 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG04199.hp2 HG04204.hp2 |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0005a0006c0012t0012 | a0001c0001t0005g0182 a0001c0001t0005g0187 a0006c0012t0012g0184 |
3 | 353 | 0.0085 | -19 | c.222 others(36): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402921 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0185 others(2): Show |
6 | 358 | 0.0168 | -19 | c.222 others(36): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG14_chr14_55361391_55416830 | 55402927 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0063 | 1 | 336 | 0.0030 | -19 | c.222 others(36): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
ATG2A_chr11_64889546_64922209 | 64904819 | TCTATCTA others(12): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03041.hp2 HG03139.hp2 others(4): Show |
a0002 | a0002c0007a0002c0009 | a0002c0007t0001a0002c0009t0001 | a0002c0007t0001g0013 a0002c0007t0001g0029 a0002c0009t0001g0065 |
7 | 347 | 0.0202 | -19 | c.346 others(36): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 24/40 | chr11 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112536920 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(82): Show |
154 | 159 | 0.9686 | -19 | c.667 others(34): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
ATG4B_chr2_241632693_241678857 | 241678050 | CAGATCAC others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 408 | 0.0025 | -19 | c.*57 others(30): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 4194 | chr2 | TogoVar | |||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0176 others(11): Show |
30 | 36 | 0.8333 | -19 | c.835 others(34): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11442739 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG06807.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0046 | a0001c0001t0005g0149 a0001c0001t0005g0263 a0001c0001t0046g0118 |
3 | 51 | 0.0588 | -19 | c.207 others(40): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0290 | 1 | 65 | 0.0154 | -19 | c.208 others(40): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |