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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG2B_chr14_96274195_96368341 | 96340090 | ATATGC | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(65): Show |
a0002a0007a0016others(1): Show | a0002c0001a0007c0009a0016c0034others(1): Show | a0002c0001t0002a0002c0001t0003a0002c0001t0004others(11): Show | a0002c0001t0002g0012 a0002c0001t0002g0014 a0002c0001t0002g0113 others(61): Show |
68 | 354 | 0.1921 | -5 | c.924 others(22): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112536920 | CAAAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG03688.hp2 HG03834.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0050 others(2): Show |
6 | 11 | 0.5455 | -5 | c.667 others(20): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112553783 | CTACTT | C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0028 others(6): Show |
20 | 374 | 0.0535 | -5 | c.115 others(20): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 2/11 | chr3 | TogoVar | |||||||
ATG3_chr3_112527510_112566962 | 112554769 | CTAGTT | C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0028 others(21): Show |
36 | 374 | 0.0963 | -5 | c.115 others(22): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 2/11 | chr3 | TogoVar | |||||||
ATG4B_chr2_241632693_241678857 | 241645736 | CACAGT | C | intron_variant | MODIFIER | NA18960.hp1 NA18971.hp2 NA18975.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0230 others(3): Show |
8 | 408 | 0.0196 | -5 | c.11- others(20): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62796207 | GTTTTT | G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 others(4): Show |
7 | 207 | 0.0338 | -5 | c.-68 others(22): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTT | A | intron_variant | MODIFIER | HG01070.hp2 HG01169.hp2 HG01928.hp2 others(17): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0055 others(6): Show |
20 | 26 | 0.7692 | -5 | c.835 others(20): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106196955 | GTTAAC | G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0013 others(3): Show |
6 | 356 | 0.0169 | -5 | c.691 others(22): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106242561 | ATTTAT | A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0013 others(3): Show |
6 | 356 | 0.0169 | -5 | c.573 others(22): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106273614 | GAAAGA | G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00673.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0012 | a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0103 others(34): Show |
37 | 356 | 0.1039 | -5 | c.478 others(22): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106290242 | CTATTT | C | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01891.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0002a0001c0004t0002 | a0001c0001t0001g0311 a0001c0003t0002g0011 a0001c0003t0002g0012 others(4): Show |
7 | 355 | 0.0197 | -5 | c.315 others(22): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106290259 | ATTTAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 NA19084.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0008 | a0001c0001t0001g0062 a0003c0005t0008g0067 a0003c0005t0008g0068 |
3 | 330 | 0.0091 | -5 | c.315 others(22): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106297679 | TTATTC | T | intron_variant | MODIFIER | HG02040.hp2 NA18952.hp2 NA18963.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 others(3): Show |
6 | 356 | 0.0169 | -5 | c.237 others(22): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11280038 | ATTTCT | A | intron_variant | MODIFIER | NA18951.hp2 NA18953.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0077 a0001c0001t0002g0100 |
3 | 290 | 0.0103 | -5 | c.-36 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11339309 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(114): Show |
117 | 285 | 0.4105 | -5 | c.890 others(22): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11345409 | AAAAAT | A | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG03139.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0019a0006c0010t0001 | a0001c0001t0019g0130 a0001c0001t0019g0205 a0006c0010t0001g0262 |
3 | 290 | 0.0103 | -5 | c.112 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11374892 | CAAAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG01361.hp2 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0022 a0001c0001t0003g0170 a0001c0001t0003g0172 others(8): Show |
11 | 33 | 0.3333 | -5 | c.187 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11375038 | TTAAAA | T | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0127 others(2): Show |
5 | 47 | 0.1064 | -5 | c.187 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11400579 | CTGATT | C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00741.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0022 a0001c0001t0001g0104 a0001c0001t0002g0069 others(23): Show |
26 | 290 | 0.0897 | -5 | c.195 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11410379 | TTTGTC | T | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01891.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0217 a0001c0001t0003g0170 a0001c0001t0003g0172 others(20): Show |
23 | 290 | 0.0793 | -5 | c.195 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11413596 | ATGAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0115 a0001c0001t0001g0210 a0001c0001t0001g0219 others(81): Show |
84 | 290 | 0.2897 | -5 | c.195 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11422740 | CTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01496.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0084 others(6): Show |
9 | 48 | 0.1875 | -5 | c.195 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11442739 | CAAAAA | C | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0045others(1): Show | a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 others(6): Show |
9 | 57 | 0.1579 | -5 | c.207 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11499257 | TCTATC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(258): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(258): Show |
261 | 290 | 0.9000 | -5 | c.208 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11517347 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00609.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0085 others(60): Show |
63 | 290 | 0.2172 | -5 | c.208 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTT | G | intron_variant | MODIFIER | HG02027.hp2 HG02055.hp2 HG02559.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0044a0001c0001t0050others(3): Show | a0001c0001t0003g0095 a0001c0001t0003g0135 a0001c0001t0003g0178 others(5): Show |
8 | 72 | 0.1111 | -5 | c.208 others(26): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11551740 | GTTCTT | G | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01099.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0020a0001c0001t0044others(3): Show | a0001c0001t0003g0008 a0001c0001t0003g0025 a0001c0001t0003g0043 others(18): Show |
21 | 290 | 0.0724 | -5 | c.208 others(24): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATG9B_chr7_151010151_151029494 | 151029478 | TTTTTC | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG00738.hp2 others(36): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(10): Show | a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0106 others(20): Show |
39 | 461 | 0.0846 | -5 | c.-50 others(16): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 4985 | chr7 | TogoVar | |||||||
ATIC_chr2_215307059_215354764 | 215334189 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(115): Show |
a0001a0007a0012 | a0001c0001a0001c0010a0007c0017others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(68): Show |
118 | 278 | 0.4245 | -5 | c.923 others(20): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATL1_chr14_50555145_50638045 | 50629966 | TTTTTC | T | intron_variant | MODIFIER | HG01257.hp2 HG01517.hp1 HG02698.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0131 a0001c0001t0001g0132 others(2): Show |
6 | 318 | 0.0189 | -5 | c.155 others(20): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38307758 | GGAAAA | G | intron_variant | MODIFIER | HG01256.hp1 HG02559.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0025 | a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 others(5): Show |
8 | 234 | 0.0342 | -5 | c.107 others(24): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38325898 | TGTTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG03831.hp2 NA19058.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0002 | a0001c0001t0004g0133 a0001c0001t0004g0141 a0001c0001t0004g0142 others(1): Show |
4 | 148 | 0.0270 | -5 | c.364 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38328908 | CAATAT | C | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01243.hp1 others(24): Show |
a0002a0003 | a0002c0002a0003c0004a0003c0005 | a0002c0002t0001a0003c0004t0003a0003c0004t0011others(4): Show | a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 others(24): Show |
27 | 234 | 0.1154 | -5 | c.364 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38344200 | ATAAAC | A | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01109.hp1 others(46): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0003c0005others(2): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(13): Show | a0001c0003t0002g0131 a0001c0003t0003g0008 a0001c0003t0003g0009 others(46): Show |
49 | 234 | 0.2094 | -5 | c.119 others(20): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38347783 | TTTTTA | T | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 HG03098.hp1 others(15): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0004a0001c0003t0012a0003c0005t0020others(1): Show | a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 others(15): Show |
18 | 234 | 0.0769 | -5 | c.119 others(22): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63621182 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG02683.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0018 | a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(8): Show |
11 | 30 | 0.3667 | -5 | c.*81 others(16): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 2904 | chr11 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63622325 | ATTTGT | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG02683.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0018 | a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(8): Show |
11 | 240 | 0.0458 | -5 | c.*69 others(16): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 1761 | chr11 | TogoVar | |||||||
ATL3_chr11_63619087_63676376 | 63661578 | AAAGAG | A | intron_variant | MODIFIER | HG01109.hp2 HG02886.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0043 others(2): Show |
5 | 236 | 0.0212 | -5 | c.47- others(20): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108232527 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00639.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0026a0003c0003t0001 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0026g0189 others(11): Show |
14 | 43 | 0.3256 | -5 | c.332 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108237899 | GTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(90): Show |
a0001a0003a0010others(3): Show | a0001c0001a0001c0020a0001c0024others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(90): Show |
93 | 207 | 0.4493 | -5 | c.496 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108241738 | CTTTCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(86): Show |
a0001a0006a0010others(3): Show | a0001c0001a0001c0024a0001c0025others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(86): Show |
89 | 284 | 0.3134 | -5 | c.497 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 5/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108293891 | AAAAAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02738.hp1 others(5): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0028a0003c0003t0001a0006c0007t0001others(1): Show | a0001c0001t0028g0289 a0003c0003t0001g0194 a0006c0007t0001g0151 others(5): Show |
8 | 302 | 0.0265 | -5 | c.477 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108293893 | AAATAT | A | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp2 HG01081.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0011a0001c0001t0016a0001c0001t0026others(1): Show | a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0195 others(10): Show |
13 | 300 | 0.0433 | -5 | c.477 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108293895 | ATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01074.hp2 others(7): Show |
a0001a0003 | a0001c0008a0001c0012a0003c0003 | a0001c0008t0016a0001c0012t0024a0001c0012t0037others(2): Show | a0001c0008t0016g0116 a0001c0008t0016g0117 a0001c0012t0024g0299 others(7): Show |
10 | 300 | 0.0333 | -5 | c.477 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 31/62 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108308382 | CTTTAT | C | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
a0009a0015 | a0009c0015a0009c0029a0015c0032 | a0009c0015t0002a0009c0029t0002a0015c0032t0002 | a0009c0015t0002g0013 a0009c0015t0002g0014 a0009c0029t0002g0008 others(1): Show |
4 | 302 | 0.0132 | -5 | c.576 others(22): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 38/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108314805 | GAAAAT | G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0195 others(1): Show |
4 | 302 | 0.0132 | -5 | c.600 others(24): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 40/62 | chr11 | TogoVar | |||||||
ATM_chr11_108218067_108374102 | 108340150 | CTTTAT | C | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG00735.hp2 others(23): Show |
a0001a0017 | a0001c0001a0001c0034a0017c0035 | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(5): Show | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 others(23): Show |
26 | 302 | 0.0861 | -5 | c.826 others(24): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 56/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52590079 | TGCCCG | T | intron_variant | MODIFIER | HG00438.hp1 HG01934.hp2 HG02273.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 others(3): Show |
6 | 360 | 0.0167 | -5 | c.280 others(24): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52597165 | GTTCTA | G | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG02559.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0079 a0003c0004t0002g0084 a0003c0004t0002g0086 others(1): Show |
4 | 12 | 0.3333 | -5 | c.264 others(24): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52619832 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(139): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0002c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(13): Show | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(135): Show |
142 | 358 | 0.3966 | -5 | c.17- others(20): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar |