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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(35): Show | 38 | 223 | 0.1704 | -9 | c.69+ others(22): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1623656 | GGACGTCA others(2): Show |
G | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0182 | 1 | 223 | 0.0045 | -9 | c.244 others(24): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1644219 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 223 | 0.0045 | -9 | c.*12 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1646654 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116a0002c0002t0001g0117 | 2 | 223 | 0.0090 | -9 | c.*36 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3574 | 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 | a0001c0001t0001g0073a0001c0003t0001g0166a0001c0008t0002g0009others(2): Show | 7 | 366 | 0.0191 | -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 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0043others(20): Show | 23 | 370 | 0.0622 | -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 | a0001c0003t0001g0034a0001c0003t0001g0109a0001c0003t0002g0018others(7): Show | 10 | 112 | 0.0893 | -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 | a0001c0001t0002g0012a0001c0003t0002g0018a0002c0011t0001g0015 | 3 | 112 | 0.0268 | -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 | a0001c0005t0005g0007a0001c0005t0005g0048a0001c0005t0005g0076others(1): Show | 4 | 102 | 0.0392 | -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(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(17): Show | 20 | 102 | 0.1961 | -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 | a0001c0001t0001g0034a0001c0001t0003g0063a0001c0001t0003g0090others(8): Show | 11 | 102 | 0.1078 | -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 | a0001c0001t0001g0015a0001c0001t0004g0060a0001c0001t0007g0087others(14): Show | 17 | 102 | 0.1667 | -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 | a0001c0001t0001g0100a0001c0002t0003g0041 | 2 | 102 | 0.0196 | -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 | a0001c0001t0007g0087a0001c0002t0003g0022a0001c0009t0004g0032 | 3 | 102 | 0.0294 | -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 | a0001c0001t0002g0040a0001c0001t0003g0090a0001c0002t0004g0029others(1): Show | 4 | 102 | 0.0392 | -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(11): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0034a0001c0001t0002g0040a0001c0001t0004g0060others(11): Show | 14 | 102 | 0.1373 | -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 | a0001c0001t0001g0014a0001c0001t0001g0042a0001c0001t0001g0064others(18): Show | 21 | 282 | 0.0745 | -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 | a0001c0002t0002g0019a0001c0002t0002g0194a0001c0002t0002g0202others(14): Show | 17 | 282 | 0.0603 | -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 | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0040others(35): Show | 38 | 282 | 0.1348 | -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 |
a0001a0002a0010 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0016a0001c0001t0017a0001c0001t0034others(5): Show | a0001c0001t0016g0192a0001c0001t0016g0204a0001c0001t0017g0008others(6): Show | 9 | 220 | 0.0409 | -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 | a0001c0001t0001a0006c0025t0077 | a0001c0001t0001g0092a0006c0025t0077g0004 | 2 | 220 | 0.0091 | -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 | a0001c0005a0002c0003 | a0001c0005t0001a0002c0003t0001 | a0001c0005t0001g0252a0002c0003t0001g0251a0002c0003t0001g0253others(7): Show | 10 | 278 | 0.0360 | -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 | a0001c0002t0001g0032a0001c0002t0001g0033a0001c0002t0001g0058others(14): Show | 18 | 405 | 0.0444 | -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 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(222): Show | 225 | 320 | 0.7031 | -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 | a0001c0001t0002g0003a0001c0001t0002g0162a0001c0001t0002g0163others(11): Show | 15 | 224 | 0.0670 | -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(321): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(73): Show | a0001c0001t0002g0015a0001c0001t0002g0032a0001c0001t0004g0163others(318): Show | 324 | 332 | 0.9759 | -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 | a0001c0002t0039g0020a0001c0002t0045g0049a0002c0003t0002g0244others(5): Show | 8 | 332 | 0.0241 | -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 | a0003c0003t0035g0343a0003c0005t0007g0325a0003c0005t0007g0326others(11): Show | 14 | 346 | 0.0405 | -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 | a0001c0001t0001g0150a0001c0001t0001g0151a0001c0001t0001g0152others(1): Show | 4 | 330 | 0.0121 | -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 | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0001g0151others(9): Show | 12 | 330 | 0.0364 | -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 | a0001c0001t0001g0009a0001c0001t0003g0051a0001c0001t0003g0111others(8): Show | 11 | 226 | 0.0487 | -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 | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0006others(34): Show | 38 | 218 | 0.1743 | -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 | a0001c0001t0001g0010a0001c0001t0001g0157a0001c0001t0001g0167others(14): Show | 18 | 366 | 0.0492 | -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 | a0001c0001t0002g0158a0001c0001t0003g0218a0001c0001t0003g0219others(3): Show | 6 | 366 | 0.0164 | -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 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0001c0001t0023a0003c0005t0003 | a0001c0001t0003g0131a0001c0001t0003g0180a0001c0001t0003g0347others(2): Show | 5 | 366 | 0.0137 | -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 | a0002c0003t0002g0026a0002c0003t0009g0016a0002c0003t0009g0017others(11): Show | 15 | 366 | 0.0410 | -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 | a0002c0002t0002g0224a0002c0002t0002g0225a0002c0002t0002g0271 | 3 | 354 | 0.0085 | -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 | a0001c0002t0003a0001c0005t0005a0001c0006t0003others(6): Show | a0001c0002t0003g0094a0001c0005t0005g0198a0001c0005t0005g0199others(22): Show | 27 | 410 | 0.0659 | -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 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0012others(8): Show | 12 | 322 | 0.0373 | -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(103): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0015others(103): Show | 106 | 292 | 0.3630 | -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 | a0001c0001t0001g0021a0001c0001t0001g0208a0001c0001t0002g0201others(7): Show | 10 | 292 | 0.0343 | -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 | a0001c0001t0001g0157a0001c0001t0001g0159a0001c0001t0010g0163others(7): Show | 10 | 292 | 0.0343 | -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 | a0001c0001t0001g0033a0001c0001t0001g0139 | 3 | 382 | 0.0079 | -9 | c.122 others(28): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38352133 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01256.hp2 HG01258.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0036a0002c0002t0001a0002c0002t0005 | a0001c0003t0036g0044a0002c0002t0001g0233a0002c0002t0001g0235others(3): Show | 6 | 236 | 0.0254 | -9 | c.119 others(26): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38357651 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 NA18943.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0037 | a0001c0001t0006g0134a0001c0001t0006g0135a0001c0001t0006g0137others(12): Show | 15 | 236 | 0.0636 | -9 | c.119 others(28): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(2): Show |
A | disruptive_inframe_deletion | MODERATE | HG01069.hp2 HG01167.hp1 HG01891.hp2 others(35): Show |
a0004a0015a0026others(1): Show | a0004c0003a0015c0023a0026c0043others(1): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0012others(3): Show | a0004c0003t0001g0001a0004c0003t0001g0003a0004c0003t0001g0009others(20): Show | 38 | 414 | 0.0918 | -9 | c.150 others(18): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2088/4702 | 1500/3573 | 500/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
ATOSA_chr15_52576321_52684388 | 52598740 | ACATGGTT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00673.hp1 others(62): Show |
a0001a0010a0013 | a0001c0001a0010c0014a0013c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0116others(60): Show | 65 | 362 | 0.1796 | -9 | c.264 others(28): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52658801 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0004a0006c0006t0010 | a0001c0001t0001g0192a0006c0006t0004g0011a0006c0006t0004g0186others(5): Show | 9 | 362 | 0.0249 | -9 | c.16+ others(26): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52679755 | TCTCCTCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(80): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0007others(5): Show | a0001c0001t0005a0001c0001t0011a0002c0002t0001others(7): Show | a0001c0001t0005g0237a0001c0001t0011g0341a0002c0002t0001g0015others(78): Show | 83 | 362 | 0.2293 | -9 | c.-10 others(20): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 368 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25750704 | TATGATGA others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(122): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0019a0001c0047others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0019t0003others(49): Show | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0038others(122): Show | 125 | 300 | 0.4167 | -9 | c.655 others(28): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar |