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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIFM1_chrX_130124362_130170841 | 130127036 | GGTGT | G | downstream_gene_variant | MODIFIER | HG03579.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027a0001c0002t0001g0113 | 2 | 262 | 0.0076 | -4 | c.*25 others(15): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2325 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130127467 | CATTT | C | downstream_gene_variant | MODIFIER | HG02630.hp2 NA19043.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0027a0002c0005t0001g0242 | 2 | 262 | 0.0076 | -4 | c.*20 others(15): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1894 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130141131 | CAAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0242a0002c0005t0001g0243 | 2 | 262 | 0.0076 | -4 | c.697 others(19): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 6/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130146449 | ATATG | A | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001a0005 | a0001c0002a0005c0008 | a0001c0002t0001a0005c0008t0001 | a0001c0002t0001g0089a0005c0008t0001g0092 | 2 | 262 | 0.0076 | -4 | c.606 others(19): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130146451 | ATGTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00735.hp1 others(40): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0234others(36): Show | 43 | 262 | 0.1641 | -4 | c.606 others(19): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130158704 | TAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(92): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0004a0003c0009others(2): Show | a0001c0002t0001a0001c0004t0001a0003c0009t0001others(2): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(86): Show | 95 | 262 | 0.3626 | -4 | c.107 others(21): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130160883 | AAAAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02630.hp2 others(2): Show |
a0001a0002a0003 | a0001c0004a0002c0005a0003c0009 | a0001c0004t0001a0002c0005t0001a0003c0009t0001 | a0001c0004t0001g0094a0001c0004t0001g0095a0002c0005t0001g0242others(2): Show | 5 | 262 | 0.0191 | -4 | c.107 others(21): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70125437 | CAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00741.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0006t0006others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0192a0001c0001t0001g0193others(15): Show | 20 | 468 | 0.0427 | -4 | c.-13 others(21): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70133098 | AAGAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01106.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0013 | a0001c0001t0001a0001c0005t0001a0005c0013t0001 | a0001c0001t0001g0010a0001c0001t0001g0039a0001c0001t0001g0274others(2): Show | 5 | 468 | 0.0107 | -4 | c.-38 others(13): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | ||||||
AIFM3_chr22_20962255_20986358 | 20979459 | GCTAT | G | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0049a0001c0001t0005g0057a0001c0001t0005g0087others(7): Show | 13 | 456 | 0.0285 | -4 | c.157 others(19): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 17/20 | chr22 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143061117 | CGTGT | C | intron_variant | MODIFIER | HG02055.hp2 HG02056.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0007a0001c0002t0001g0009a0001c0002t0001g0010others(5): Show | 8 | 204 | 0.0392 | -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 | 143079779 | CTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01516.hp2 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0004g0181a0001c0001t0005g0017a0001c0001t0005g0066others(6): Show | 9 | 204 | 0.0441 | -4 | c.141 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143090295 | TTCTA | T | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01516.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0172others(32): Show | 35 | 204 | 0.1716 | -4 | c.141 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143094400 | CAAAT | C | intron_variant | MODIFIER | NA18957.hp2 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0030a0001c0002t0003g0031 | 2 | 204 | 0.0098 | -4 | c.141 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143096945 | TATAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0001g0161a0001c0001t0007g0084a0001c0002t0001g0009others(48): Show | 51 | 204 | 0.2500 | -4 | c.141 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143128669 | CAGTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0001 | a0001c0001t0010g0201a0001c0002t0001g0019 | 2 | 204 | 0.0098 | -4 | c.142 others(21): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143143583 | CTCTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0001t0001g0177a0001c0002t0004g0074a0001c0002t0005g0070others(4): Show | 7 | 204 | 0.0343 | -4 | c.297 others(21): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143170587 | GTTTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(102): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0077a0001c0001t0001g0088a0001c0001t0001g0094others(101): Show | 105 | 204 | 0.5147 | -4 | c.399 others(21): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143190973 | ACTAT | A | intron_variant | MODIFIER | HG00408.hp2 NA18943.hp1 NA18984.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0126a0001c0001t0002g0098a0001c0001t0002g0152others(4): Show | 7 | 204 | 0.0343 | -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 | AACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0077a0001c0001t0001g0088a0001c0001t0001g0099others(39): Show | 43 | 204 | 0.2108 | -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 | 143225665 | GAAAA | G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0005a0001c0005t0001 | a0001c0002t0005g0070a0001c0002t0005g0071a0001c0002t0005g0073others(1): Show | 4 | 204 | 0.0196 | -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 | 143257573 | CTTGT | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01496.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0010a0001c0002t0003others(1): Show | a0001c0001t0007g0016a0001c0001t0007g0084a0001c0001t0010g0201others(5): Show | 8 | 204 | 0.0392 | -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 | 143312330 | TGAAA | T | intron_variant | MODIFIER | HG03540.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0086a0001c0001t0004g0087 | 2 | 204 | 0.0098 | -4 | c.516 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143312806 | CCTGT | C | intron_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0003g0085a0001c0001t0004g0076a0001c0001t0004g0078others(13): Show | 16 | 204 | 0.0784 | -4 | c.516 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143314184 | TAAAA | T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0167a0001c0001t0001g0172a0001c0001t0002g0108others(20): Show | 23 | 204 | 0.1128 | -4 | c.516 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143329680 | TTTTG | T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0003g0015a0001c0001t0003g0089a0001c0001t0003g0091others(42): Show | 45 | 204 | 0.2206 | -4 | c.516 others(21): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143340915 | CCATT | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01496.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007 | a0001c0001t0007g0016a0001c0001t0007g0084a0001c0002t0007g0026others(3): Show | 6 | 204 | 0.0294 | -4 | c.*12 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 6/6 | 1242 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
AIG1_chr6_143055889_143346058 | 143341072 | GTCTC | G | downstream_gene_variant | MODIFIER | HG02615.hp1 HG03139.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079a0001c0001t0002g0083a0001c0001t0002g0110 | 3 | 204 | 0.0147 | -4 | c.*13 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 15 | chr6 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075534 | TACAC | T | intron_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01258.hp2 others(11): Show |
a0000a0001 | a0000c0004a0001c0001 | a0000c0004t0001a0001c0001t0001 | a0000c0004t0001g0116a0001c0001t0001g0027a0001c0001t0001g0042others(8): Show | 14 | 394 | 0.0355 | -4 | c.-21 others(21): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106314616 | ATTTT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01071.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0011 | a0002c0002t0002g0003a0002c0002t0002g0014a0002c0002t0002g0015others(27): Show | 43 | 384 | 0.1120 | -4 | c.-20 others(15): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 1933 | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106341542 | TAGAG | T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009 | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0008others(45): Show | 83 | 384 | 0.2162 | -4 | c.772 others(21): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106354214 | TACAC | T | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02083.hp2 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0002 | a0001c0001t0001g0036a0001c0001t0001g0041a0001c0005t0001g0002others(2): Show | 5 | 384 | 0.0130 | -4 | c.*65 others(15): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6018968 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00621.hp1 others(85): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0009 | a0001c0001t0002a0001c0001t0005a0001c0008t0002others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0014a0001c0001t0002g0015others(72): Show | 88 | 442 | 0.1991 | -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 | 6421849 | GAAAA | G | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG01109.hp1 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(29): Show | a0001c0001t0002g0010a0001c0001t0002g0018a0001c0001t0004g0036others(51): Show | 59 | 454 | 0.1300 | -4 | c.*36 others(15): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1888 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6429800 | ATAGG | A | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG03041.hp2 others(2): Show |
a0001a0002a0003 | a0001c0004a0001c0015a0002c0003others(1): Show | a0001c0004t0010a0001c0015t0068a0002c0003t0001others(1): Show | a0001c0004t0010g0207a0001c0015t0068g0046a0002c0003t0001g0102others(2): Show | 5 | 454 | 0.0110 | -4 | c.277 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6429824 | GTAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01243.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0002g0018a0001c0001t0002g0035a0001c0001t0002g0127others(55): Show | 64 | 454 | 0.1410 | -4 | c.277 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6430044 | GGTGT | G | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(12): Show | a0001c0001t0002g0127a0001c0001t0002g0287a0001c0001t0002g0299others(19): Show | 27 | 454 | 0.0595 | -4 | c.277 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6438509 | ATTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(209): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(45): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0018others(176): Show | 212 | 454 | 0.4670 | -4 | c.-34 others(15): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 3389 | chr17 | TogoVar | ||||||
AIP_chr11_67478026_67496103 | 67480169 | CCTAA | C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0025 | 5 | 342 | 0.0146 | -4 | c.-29 others(15): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 2856 | chr11 | TogoVar | ||||||
AIP_chr11_67478026_67496103 | 67485723 | CTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01515.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0046a0001c0001t0002g0030 | 7 | 342 | 0.0205 | -4 | c.100 others(21): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AIRE_chr21_44280876_44303648 | 44296941 | CTCTG | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(68): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0003t0002a0001c0004t0001a0001c0004t0002others(11): Show | a0001c0003t0002g0003a0001c0003t0002g0005a0001c0003t0002g0013others(37): Show | 71 | 426 | 0.1667 | -4 | c.156 others(21): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AIRE_chr21_44280876_44303648 | 44299041 | ACCCC | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01074.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(17): Show | a0001c0001t0001g0164a0001c0003t0002g0003a0001c0003t0002g0005others(33): Show | 45 | 426 | 0.1056 | -4 | c.*13 others(15): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 394 | chr21 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44299197 | TACAC | T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0079a0001c0001t0001g0167others(24): Show | 33 | 426 | 0.0775 | -4 | c.*14 others(15): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4651389 | CGTGT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp2 others(67): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(59): Show | a0001c0001t0002g0285a0001c0001t0002g0306a0001c0001t0003g0304others(67): Show | 70 | 334 | 0.2096 | -4 | c.-40 others(15): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 3219 | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4679808 | GGTGT | G | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01123.hp2 others(19): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0098others(12): Show | a0001c0001t0004g0001a0001c0001t0005g0196a0001c0001t0098g0325others(18): Show | 22 | 334 | 0.0659 | -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 | 4697023 | GGTGT | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00639.hp2 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0081a0001c0001t0143a0001c0002t0002others(32): Show | a0001c0001t0081g0292a0001c0001t0143g0068a0001c0002t0002g0217others(40): Show | 44 | 334 | 0.1317 | -4 | c.30- others(21): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4705395 | CTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01074.hp2 others(65): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0129a0001c0001t0002g0306a0001c0001t0004g0001others(64): Show | 68 | 334 | 0.2036 | -4 | c.30- others(19): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4710463 | ACACT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(149): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(130): Show | a0001c0001t0001g0097a0001c0001t0001g0125a0001c0001t0002g0240others(148): Show | 152 | 334 | 0.4551 | -4 | c.30- others(19): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4744625 | GCACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00733.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(47): Show | a0001c0001t0001g0125a0001c0001t0002g0240a0001c0001t0005g0206others(50): Show | 54 | 334 | 0.1617 | -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 | 4748747 | CAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(38): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0010a0001c0001t0026a0001c0001t0115others(33): Show | a0001c0001t0010g0149a0001c0001t0026g0167a0001c0001t0115g0242others(37): Show | 41 | 334 | 0.1228 | -4 | c.830 others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |