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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG3_chr3_112527510_112566962 | 112536920 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 376 | 0.0027 | -12 | c.667 others(27): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
ATG4A_chrX_108086778_108159671 | 108141059 | TGTATATA others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 249 | 0.0040 | -12 | c.814 others(29): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | chrX | TogoVar | ||||||
ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp1 NA19091.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056a0001c0002t0001g0145 | 2 | 249 | 0.0080 | -12 | c.815 others(29): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATG4B_chr2_241632693_241678857 | 241647622 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0345a0001c0001t0006g0346a0001c0001t0006g0347others(2): Show | 6 | 410 | 0.0146 | -12 | c.11- others(27): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62796764 | TAAAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006a0001c0001t0004g0134a0001c0001t0004g0135 | 4 | 322 | 0.0124 | -12 | c.-68 others(29): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62850854 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 322 | 0.0031 | -12 | c.120 others(31): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62850891 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02886.hp2 HG02895.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0012a0001c0001t0002g0244a0001c0001t0002g0287others(15): Show | 20 | 322 | 0.0621 | -12 | c.120 others(31): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62853285 | TGTGTACC others(5): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 322 | 0.0031 | -12 | c.121 others(33): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62861576 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0246 | 1 | 322 | 0.0031 | -12 | c.121 others(31): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4C_chr1_62779132_62870516 | 62861616 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01109.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0256a0001c0001t0001g0257others(24): Show | 27 | 322 | 0.0839 | -12 | c.121 others(31): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03710.hp1 NA18949.hp2 NA19055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0165a0001c0001t0001g0193 | 4 | 406 | 0.0099 | -12 | c.835 others(27): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATG5_chr6_106179476_106330760 | 106246386 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 358 | 0.0028 | -12 | c.573 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106246392 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01891.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0011a0001c0003t0002g0012a0001c0003t0002g0013others(2): Show | 5 | 358 | 0.0140 | -12 | c.573 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106251691 | CAGAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327a0001c0001t0001g0328 | 2 | 358 | 0.0056 | -12 | c.479 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106269783 | TCTCCCTC others(5): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 358 | 0.0028 | -12 | c.478 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106297717 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01943.hp2 HG02145.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0008 | a0001c0001t0001g0225a0001c0001t0001g0253a0001c0001t0001g0254others(2): Show | 5 | 358 | 0.0140 | -12 | c.237 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106297755 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01074.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0022others(27): Show | 33 | 358 | 0.0922 | -12 | c.237 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATG5_chr6_106179476_106330760 | 106312623 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0020others(82): Show | 89 | 358 | 0.2486 | -12 | c.108 others(29): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11304453 | GCATGACC others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(271): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0015others(271): Show | 274 | 292 | 0.9384 | -12 | c.216 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11334969 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0127 | 2 | 292 | 0.0069 | -12 | c.889 others(29): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 11/20 | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11366971 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0039a0002c0003t0008others(6): Show | a0001c0001t0001g0041a0001c0002t0039g0007a0002c0003t0008g0275others(12): Show | 15 | 292 | 0.0514 | -12 | c.187 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11395939 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01943.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0105a0001c0001t0002g0069a0001c0001t0003g0068others(5): Show | 8 | 292 | 0.0274 | -12 | c.195 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11411619 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02055.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0206a0001c0001t0003g0253a0001c0001t0003g0255others(14): Show | 17 | 292 | 0.0582 | -12 | c.195 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11422740 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18974.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068a0001c0001t0003g0135 | 2 | 292 | 0.0069 | -12 | c.195 others(31): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11462841 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00642.hp2 others(35): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0034others(35): Show | 38 | 292 | 0.1301 | -12 | c.207 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11478989 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0171 | 1 | 292 | 0.0034 | -12 | c.207 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11497357 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01070.hp2 others(26): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0093a0001c0001t0001g0157a0001c0001t0001g0159others(26): Show | 29 | 292 | 0.0993 | -12 | c.208 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11506573 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG03225.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084a0001c0001t0002g0183a0001c0001t0002g0189 | 3 | 292 | 0.0103 | -12 | c.208 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 292 | 0.0034 | -12 | c.208 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11527061 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0039a0001c0002t0042 | a0001c0002t0039g0007a0001c0002t0042g0170 | 2 | 292 | 0.0069 | -12 | c.208 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11557775 | CCTCAGCT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0160 | 1 | 292 | 0.0034 | -12 | c.*29 others(23): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 111 | chr3 | TogoVar | ||||||
ATIC_chr2_215307059_215354764 | 215332131 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(33): Show |
a0001a0002a0011 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0028a0001c0001t0001g0029others(26): Show | 36 | 382 | 0.0942 | -12 | c.689 others(27): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50564647 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01069.hp1 others(18): Show |
a0001a0002 | a0001c0003a0002c0013 | a0001c0003t0001a0002c0013t0001 | a0001c0003t0001g0003a0001c0003t0001g0004a0001c0003t0001g0005others(15): Show | 21 | 320 | 0.0656 | -12 | c.34+ others(27): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574931 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 320 | 0.0031 | -12 | c.35- others(29): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574937 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0053 | 3 | 320 | 0.0094 | -12 | c.35- others(29): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50616455 | GTTATTTA others(5): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 320 | 0.0031 | -12 | c.862 others(29): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38325649 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 236 | 0.0042 | -12 | c.364 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0002c0002t0001 | a0001c0001t0031g0055a0002c0002t0001g0180 | 2 | 236 | 0.0085 | -12 | c.364 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325699 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0084a0001c0001t0002g0086a0001c0001t0004g0087 | 3 | 236 | 0.0127 | -12 | c.364 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 236 | 0.0042 | -12 | c.363 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38343149 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(65): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0079a0001c0001t0001g0094a0001c0001t0002g0050others(65): Show | 68 | 236 | 0.2881 | -12 | c.363 others(27): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38370448 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0215 | 1 | 236 | 0.0042 | -12 | c.118 others(29): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63628834 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03654.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0022a0001c0001t0015g0024 | 2 | 242 | 0.0083 | -12 | c.*47 others(21): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 13/13 | 473 | chr11 | TogoVar | |||||
ATL3_chr11_63619087_63676376 | 63640594 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02523.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0185 | 2 | 242 | 0.0083 | -12 | c.850 others(29): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63654289 | GACGCCCG others(5): Show |
G | intron_variant | MODIFIER | HG03486.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0055 | 2 | 242 | 0.0083 | -12 | c.406 others(29): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 3/12 | chr11 | TogoVar | ||||||
ATM_chr11_108218067_108374102 | 108232527 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 304 | 0.0033 | -12 | c.332 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 4/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317615 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0258 | 1 | 304 | 0.0033 | -12 | c.634 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317646 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02055.hp1 |
a0001a0002 | a0001c0012a0002c0005 | a0001c0012t0038a0002c0005t0008 | a0001c0012t0038g0302a0002c0005t0008g0097 | 2 | 304 | 0.0066 | -12 | c.634 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108354070 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 |
a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0134a0002c0009t0003g0135 | 2 | 304 | 0.0066 | -12 | c.878 others(29): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00738.hp1 HG01109.hp1 HG01358.hp2 others(14): Show |
a0010a0025 | a0010c0008a0025c0044 | a0010c0008t0001a0025c0044t0001 | a0010c0008t0001g0001a0010c0008t0001g0009a0010c0008t0001g0026others(8): Show | 17 | 414 | 0.0411 | -12 | c.149 others(21): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2085/4702 | 1497/3573 | 499/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |