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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOPEP_chr9_94721699_95092159 | 94906483 | A | AATAATAA others(13): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18951.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0082 a0001c0015t0001g0094 |
2 | 161 | 0.0124 | 20 | c.136 others(41): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94914523 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0138 | 1 | 50 | 0.0200 | 20 | c.136 others(39): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94943919 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 112 | 0.0089 | 20 | c.166 others(41): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95041444 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0097 |
2 | 48 | 0.0417 | 20 | c.211 others(41): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200588726 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 others(33): Show |
36 | 117 | 0.3077 | 20 | c.45+ others(35): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200630548 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01978.hp2 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0002a0001c0027t0002 | a0001c0001t0002g0031 a0001c0027t0002g0030 |
2 | 29 | 0.0690 | 20 | c.222 others(39): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19090.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0332 a0004c0004t0001g0302 |
2 | 243 | 0.0082 | 20 | c.317 others(37): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 242 | 0.0041 | 20 | c.317 others(37): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAATA others(13): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 242 | 0.0041 | 20 | c.317 others(37): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200663572 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0211 | 1 | 306 | 0.0033 | 20 | c.354 others(37): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29390582 | T | TTTTATTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0003t0011a0001c0004t0002 | a0001c0003t0004g0345 a0001c0003t0004g0346 a0001c0003t0011g0344 others(1): Show |
4 | 179 | 0.0223 | 20 | c.-21 others(31): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2013 | chr22 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(13): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0160 | 1 | 246 | 0.0041 | 20 | c.546 others(37): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215210 | G | GGGGGGGG others(13): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0220 | 1 | 294 | 0.0034 | 20 | c.546 others(37): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16250272 | A | ATGTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0220 | 1 | 294 | 0.0034 | 20 | c.*15 others(33): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4367 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG02015.hp1 NA18939.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(4): Show | a0001c0001t0005g0247 a0001c0001t0008g0253 a0001c0001t0017g0235 others(4): Show |
7 | 96 | 0.0729 | 20 | c.*15 others(33): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 NA18612.hp2 NA18943.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 a0001c0002t0002g0161 a0001c0002t0002g0165 |
3 | 11 | 0.2727 | 20 | c.*25 others(31): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585282 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02300.hp1 HG02738.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 others(8): Show |
13 | 358 | 0.0363 | 20 | c.43- others(35): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585286 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 323 | 0.0031 | 20 | c.43- others(35): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585286 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0076 |
3 | 325 | 0.0092 | 20 | c.43- others(35): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585290 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01168.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0049 others(9): Show |
15 | 345 | 0.0435 | 20 | c.43- others(35): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10587901 | T | TCATCAAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 HG02135.hp1 NA19076.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 a0001c0002t0002g0263 a0001c0002t0002g0264 |
3 | 392 | 0.0077 | 20 | c.-67 others(29): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 590 | chr19 | TogoVar | |||||||
AP1S1_chr7_101149476_101166276 | 101160006 | A | ACATGCCC others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(13): Show |
74 | 393 | 0.1883 | 20 | c.430 others(35): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG04228.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0033 a0001c0001t0004g0003 |
2 | 183 | 0.0109 | 20 | c.427 others(37): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834480 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 315 | 0.0032 | 20 | c.427 others(37): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223756338 | G | GGAAGAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG02027.hp2 NA18964.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0237 a0001c0001t0010g0262 a0001c0001t0010g0274 others(3): Show |
6 | 306 | 0.0196 | 20 | c.*23 others(31): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2376 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49786171 | C | CAAGAGGC others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00642.hp2 others(84): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 others(80): Show |
87 | 340 | 0.2559 | 20 | c.473 others(37): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 2 | 0.5000 | 20 | c.67+ others(35): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35703834 | A | AAGTTAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(331): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(328): Show |
334 | 361 | 0.9252 | 20 | c.245 others(39): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35703834 | A | AAGTTAAA others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 others(4): Show |
7 | 34 | 0.2059 | 20 | c.245 others(39): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720545 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 282 | 0.0035 | 20 | c.278 others(39): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833427 | A | AAAGAGAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0016 others(15): Show |
21 | 203 | 0.1034 | 20 | c.*50 others(31): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78189869 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045 | 1 | 71 | 0.0141 | 20 | c.787 others(37): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 111 | 0.0090 | 20 | c.787 others(39): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82665376 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 28 | 0.0357 | 20 | c.197 others(35): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82700397 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(30): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0068 a0001c0001t0001g0069 others(29): Show |
33 | 36 | 0.9167 | 20 | c.113 others(37): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115868951 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 94 | 0.0106 | 20 | c.162 others(37): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89858489 | A | AAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 183 | 0.0055 | 20 | c.345 others(39): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG02135.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0004a0002c0002t0002a0002c0002t0017others(1): Show | a0001c0001t0004g0377 a0002c0002t0002g0036 a0002c0002t0002g0044 others(7): Show |
10 | 87 | 0.1149 | 20 | c.185 others(39): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCCCACAC others(13): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0025 | 1 | 78 | 0.0128 | 20 | c.185 others(39): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049428 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 179 | 0.0056 | 20 | c.-71 others(39): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049474 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02602.hp2 NA18946.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0286 others(4): Show |
7 | 83 | 0.0843 | 20 | c.-71 others(39): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 HG03139.hp2 HG03209.hp1 |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0006a0006c0004t0056 | a0001c0001t0006g0009 a0006c0004t0056g0009 |
3 | 231 | 0.0130 | 20 | c.*73 others(31): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 119 | 0.0084 | 20 | c.526 others(37): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665255 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18945.hp2 NA18955.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024 | a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0146 others(4): Show |
7 | 191 | 0.0366 | 20 | c.956 others(35): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665278 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 214 | 0.0047 | 20 | c.956 others(35): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98707692 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02148.hp2 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0312 a0001c0001t0002g0321 a0001c0001t0006g0156 others(1): Show |
4 | 154 | 0.0260 | 20 | c.272 others(37): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98707711 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0330 | 1 | 362 | 0.0028 | 20 | c.272 others(37): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98715281 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18991.hp1 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0312 a0001c0001t0006g0118 a0001c0001t0006g0130 |
3 | 322 | 0.0093 | 20 | c.295 others(37): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | chr12 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02486.hp2 NA18964.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0018 | a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0115 others(1): Show |
4 | 116 | 0.0345 | 20 | c.-70 others(39): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01175.hp2 HG01358.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0035others(2): Show | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 others(4): Show |
7 | 119 | 0.0588 | 20 | c.-70 others(39): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar |