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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIFM1_chrX_130124362_130170841 | 130146451 | A | ATGTG | intron_variant | MODIFIER | HG01978.hp1 HG03209.hp1 NA18952.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0168 others(2): Show |
5 | 62 | 0.0806 | 4 | c.606 others(19): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130160883 | A | AAAAT | intron_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0146 others(6): Show |
9 | 248 | 0.0363 | 4 | c.107 others(21): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70125437 | C | CAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0015 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0279 others(3): Show |
8 | 17 | 0.4706 | 4 | c.-13 others(21): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70129003 | A | ATATT | intron_variant | MODIFIER | HG02056.hp1 HG03490.hp1 HG03492.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0007a0002c0011 | a0001c0001t0005a0002c0007t0039a0002c0011t0005 | a0001c0001t0005g0065 a0001c0001t0005g0066 a0002c0007t0039g0067 others(1): Show |
4 | 466 | 0.0086 | 4 | c.-14 others(21): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TTGTG | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01074.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(15): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(34): Show |
44 | 68 | 0.6471 | 4 | c.-38 others(15): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | |||||||
AIFM3_chr22_20962255_20986358 | 20984622 | G | GGGGT | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01496.hp1 HG01928.hp2 others(34): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0098 a0001c0001t0001g0223 a0001c0001t0002g0005 others(23): Show |
37 | 129 | 0.2868 | 4 | c.*35 others(15): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 3265 | chr22 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143061117 | C | CGTGT | intron_variant | MODIFIER | HG01516.hp2 HG01891.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0010a0001c0001t0011a0001c0002t0003others(4): Show | a0001c0001t0010g0201 a0001c0001t0011g0202 a0001c0002t0003g0199 others(4): Show |
7 | 121 | 0.0579 | 4 | c.141 others(17): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143061397 | C | CAACT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(110): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0165 others(110): Show |
113 | 202 | 0.5594 | 4 | c.141 others(19): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143186056 | G | GCCCA | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG02129.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0055 a0001c0002t0002g0020 a0001c0002t0002g0052 others(2): Show |
5 | 202 | 0.0248 | 4 | c.399 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143196350 | A | AACAC | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0001t0005g0017 a0001c0002t0003g0199 a0001c0002t0005g0071 others(2): Show |
5 | 34 | 0.1471 | 4 | c.399 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143207538 | A | ACACG | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0010a0001c0002t0001others(1): Show | a0001c0001t0008g0192 a0001c0001t0008g0193 a0001c0001t0008g0195 others(3): Show |
6 | 202 | 0.0297 | 4 | c.399 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143226234 | C | CTATA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0116 others(27): Show |
30 | 202 | 0.1485 | 4 | c.400 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143251527 | A | ATTTG | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(127): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0116 others(126): Show |
130 | 202 | 0.6436 | 4 | c.400 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143274673 | G | GATGA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00735.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0092 a0001c0001t0001g0128 a0001c0001t0001g0138 others(45): Show |
48 | 180 | 0.2667 | 4 | c.400 others(21): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143287737 | T | TAAAA | intron_variant | MODIFIER | HG02056.hp1 HG02451.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0002g0110 others(5): Show |
8 | 20 | 0.4000 | 4 | c.515 others(21): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143345694 | A | ATTTT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02129.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0001g0147 a0001c0001t0001g0171 a0001c0001t0001g0175 others(16): Show |
19 | 50 | 0.3800 | 4 | c.*60 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4637 | chr6 | TogoVar | |||||||
AIM2_chr1_159057484_159081766 | 159075534 | T | TACAC | intron_variant | MODIFIER | HG01891.hp2 HG01978.hp2 HG02055.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0036 others(8): Show |
20 | 128 | 0.1563 | 4 | c.-21 others(21): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AIM2_chr1_159057484_159081766 | 159075574 | C | CATAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(54): Show |
a0001a0003a0007 | a0001c0001a0003c0006a0007c0010 | a0001c0001t0002a0001c0001t0004a0003c0006t0002others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0052 others(15): Show |
57 | 376 | 0.1516 | 4 | c.-21 others(21): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106329772 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp2 HG02083.hp2 HG04199.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027 a0002c0002t0002g0045 a0002c0002t0002g0046 others(6): Show |
13 | 127 | 0.1024 | 4 | c.391 others(21): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106349840 | T | TAACA | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0017 | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0008 others(41): Show |
79 | 382 | 0.2068 | 4 | c.*21 others(15): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 385 | chr4 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106350000 | C | CAAAA | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0088 others(4): Show |
7 | 27 | 0.2593 | 4 | c.*23 others(15): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106354214 | T | TACAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp2 others(28): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0034 others(28): Show |
31 | 110 | 0.2818 | 4 | c.*65 others(15): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6018968 | T | TACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(132): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0007c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0029 others(118): Show |
135 | 192 | 0.7031 | 4 | c.574 others(19): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6429824 | G | GTAGA | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0059 a0001c0001t0008g0018 others(3): Show |
6 | 323 | 0.0186 | 4 | c.277 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6430456 | C | CAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(25): Show |
a0001a0002a0010 | a0001c0002a0002c0003a0010c0014 | a0001c0002t0001a0001c0002t0007a0001c0002t0017others(7): Show | a0001c0002t0001g0145 a0001c0002t0007g0276 a0001c0002t0007g0283 others(18): Show |
28 | 234 | 0.1197 | 4 | c.277 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0050a0001c0002t0001others(21): Show | a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0049 others(49): Show |
93 | 289 | 0.3218 | 4 | c.276 others(19): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6434356 | C | CTTTT | intron_variant | MODIFIER | HG01952.hp1 HG02074.hp2 HG02145.hp2 others(4): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0006 | a0001c0002t0003a0001c0002t0021a0001c0002t0064others(3): Show | a0001c0002t0003g0134 a0001c0002t0021g0133 a0001c0002t0064g0135 others(3): Show |
7 | 156 | 0.0449 | 4 | c.97- others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
AIP_chr11_67478026_67496103 | 67489888 | A | ATGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(50): Show |
290 | 340 | 0.8529 | 4 | c.469 others(19): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44282924 | A | AAAAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(275): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(40): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(66): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(175): Show |
278 | 424 | 0.6557 | 4 | c.-30 others(15): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 2951 | chr21 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44299197 | T | TACAC | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(60): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0002others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0161 others(37): Show |
63 | 271 | 0.2325 | 4 | c.*14 others(15): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4662046 | T | TTGTG | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01168.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0145a0001c0001t0154others(11): Show | a0001c0001t0003g0001 a0001c0001t0145g0045 a0001c0001t0154g0032 others(17): Show |
21 | 160 | 0.1313 | 4 | c.29+ others(19): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4679381 | G | GATGA | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00673.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(20): Show | a0001c0001t0001g0318 a0001c0001t0006g0299 a0001c0001t0018g0325 others(20): Show |
23 | 332 | 0.0693 | 4 | c.29+ others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4679808 | G | GGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0040others(23): Show | a0001c0001t0003g0059 a0001c0001t0013g0169 a0001c0001t0013g0195 others(25): Show |
28 | 46 | 0.6087 | 4 | c.29+ others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4733422 | C | CCATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(103): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(82): Show | a0001c0001t0001g0145 a0001c0001t0002g0097 a0001c0001t0002g0125 others(103): Show |
106 | 332 | 0.3193 | 4 | c.829 others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4748747 | C | CAAAA | intron_variant | MODIFIER | HG02129.hp1 HG02602.hp1 HG03491.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0026a0001c0002t0019a0001c0002t0038others(4): Show | a0001c0001t0026g0016 a0001c0002t0019g0005 a0001c0002t0038g0111 others(4): Show |
8 | 191 | 0.0419 | 4 | c.830 others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4768329 | C | CTGTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0002g0244 a0001c0001t0003g0001 a0001c0001t0003g0059 others(49): Show |
53 | 332 | 0.1596 | 4 | c.830 others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4778571 | A | ATCTC | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01074.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0020a0001c0001t0046a0001c0001t0187others(15): Show | a0001c0001t0020g0312 a0001c0001t0046g0276 a0001c0001t0187g0272 others(17): Show |
20 | 68 | 0.2941 | 4 | c.*60 others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4783471 | G | GTATA | 3_prime_UTR_variant | MODIFIER | HG02027.hp1 HG02074.hp2 HG04204.hp2 |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0155a0001c0005t0001a0002c0004t0181 | a0001c0001t0155g0056 a0001c0005t0001g0214 a0002c0004t0181g0265 |
3 | 195 | 0.0154 | 4 | c.*10 others(15): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 9012 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJUBA_chr14_22966177_22987551 | 22972334 | A | AAAGT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(129): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0020 others(33): Show |
132 | 332 | 0.3976 | 4 | c.*11 others(15): Show |
AJUBA | ENSG00000129474.17 | transcript | ENST00000262713.7 | protein_coding | 8/8 | 1108 | chr14 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127866078 | A | AGTGT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01070.hp1 others(52): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0020 others(33): Show |
55 | 424 | 0.1297 | 4 | c.*19 others(15): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 407 | chr9 | TogoVar | |||||||
AK1_chr9_127861486_127882675 | 127870200 | C | CTTTT | intron_variant | MODIFIER | HG00558.hp1 HG04115.hp2 HG04184.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0001g0022 a0001c0001t0001g0152 a0001c0001t0004g0010 others(11): Show |
22 | 90 | 0.2444 | 4 | c.324 others(21): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
AK1_chr9_127861486_127882675 | 127879066 | A | AACAC | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01081.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0056 a0001c0001t0001g0059 others(15): Show |
21 | 60 | 0.3500 | 4 | c.-14 others(15): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 1392 | chr9 | TogoVar | |||||||
AK1_chr9_127861486_127882675 | 127881054 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(108): Show |
202 | 210 | 0.9619 | 4 | c.-34 others(15): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 3380 | chr9 | TogoVar | |||||||
AK2_chr1_33002986_33041883 | 33020188 | A | AACAC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0080 others(9): Show |
17 | 91 | 0.1868 | 4 | c.425 others(21): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
AK2_chr1_33002986_33041883 | 33025188 | C | CAAAA | intron_variant | MODIFIER | HG01515.hp1 HG02080.hp2 HG02083.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0031 | a0001c0001t0002g0040 a0001c0001t0002g0187 a0001c0001t0002g0202 others(7): Show |
11 | 228 | 0.0482 | 4 | c.94- others(17): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AK2_chr1_33002986_33041883 | 33034449 | T | TACAC | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01256.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050 a0001c0001t0001g0162 a0001c0001t0001g0163 others(8): Show |
12 | 191 | 0.0628 | 4 | c.93+ others(19): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4715391 | C | CTTTT | intron_variant | MODIFIER | HG01361.hp2 NA18939.hp2 NA18944.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0076 | a0001c0001t0003g0058 a0001c0001t0003g0260 a0001c0001t0003g0304 others(4): Show |
9 | 209 | 0.0431 | 4 | c.564 others(21): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4719039 | G | GGTCA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(166): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0182 others(157): Show |
169 | 460 | 0.3674 | 4 | c.444 others(17): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4720689 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(112): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0078 others(105): Show |
115 | 292 | 0.3938 | 4 | c.272 others(21): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 2/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4728850 | T | TACAC | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0369 a0001c0001t0004g0111 a0001c0001t0004g0270 others(7): Show |
10 | 432 | 0.0231 | 4 | c.152 others(21): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar |