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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOAH_chr7_36507941_36729494 | 36524504 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0275 | 1 | 304 | 0.0033 | -13 | c.152 others(32): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36563147 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02738.hp2 NA18983.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0163 a0001c0003t0002g0272 |
2 | 32 | 0.0625 | -13 | c.102 others(34): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 13/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36684930 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 a0001c0001t0003g0093 |
2 | 301 | 0.0066 | -13 | c.223 others(30): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36684933 | AAAAAAAG others(6): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG02015.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(19): Show |
22 | 261 | 0.0843 | -13 | c.223 others(30): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94805478 | TTTTTTGT others(6): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02965.hp1 |
a0002 | a0002c0008 | a0002c0008t0002a0002c0008t0003 | a0002c0008t0002g0135 a0002c0008t0003g0136 |
2 | 180 | 0.0111 | -13 | c.136 others(32): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94869971 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01975.hp2 HG02027.hp2 others(10): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 others(10): Show |
13 | 27 | 0.4815 | -13 | c.136 others(34): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94885348 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00639.hp1 others(33): Show |
a0001a0003a0009 | a0001c0001a0001c0014a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0062 others(33): Show |
36 | 52 | 0.6923 | -13 | c.136 others(34): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94937661 | TATCATTA others(6): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 179 | 0.0056 | -13 | c.166 others(32): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200630210 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(85): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0117 others(82): Show |
88 | 188 | 0.4681 | -13 | c.222 others(32): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTTTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0005 | 1 | 38 | 0.0263 | -13 | c.*48 others(24): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4832 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1S2_chrX_15820806_15859813 | 15834466 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0117 |
2 | 316 | 0.0063 | -13 | c.427 others(30): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223834645 | TACTCAAG others(6): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(99): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0047 others(99): Show |
102 | 338 | 0.3018 | -13 | c.3+2 others(26): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 1008472 | GGGTGCAG others(6): Show |
G | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0209 | 1 | 266 | 0.0038 | -13 | c.242 others(30): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35616142 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(98): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0065 a0001c0001t0002g0066 others(97): Show |
101 | 111 | 0.9099 | -13 | c.525 others(30): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720567 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0160 | 1 | 327 | 0.0031 | -13 | c.278 others(32): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720569 | ATATATTT others(6): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0090 a0001c0001t0006g0079 |
2 | 352 | 0.0057 | -13 | c.278 others(32): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAAAAA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
3 | 78 | 0.0385 | -13 | c.-41 others(22): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46839286 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(142): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show |
145 | 228 | 0.6360 | -13 | c.267 others(28): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46855092 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp2 NA18950.hp1 NA18969.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
5 | 112 | 0.0446 | -13 | c.-43 others(24): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78105263 | AGTGGACT others(6): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(39): Show |
a0001a0004a0008 | a0001c0002a0004c0017a0008c0011 | a0001c0002t0001a0001c0002t0002a0004c0017t0002others(1): Show | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(39): Show |
42 | 224 | 0.1875 | -13 | c.239 others(32): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 20/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78166160 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 224 | 0.0045 | -13 | c.116 others(30): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74149267 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0263 a0001c0003t0004g0007 a0001c0003t0004g0033 others(5): Show |
12 | 55 | 0.2182 | -13 | c.-4+ others(28): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AP3M2_chr8_42148063_42176183 | 42153706 | GCCCGGGC others(6): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 390 | 0.0026 | -13 | c.-73 others(28): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42162943 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02074.hp2 HG02132.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0005 | a0001c0001t0003g0045 a0001c0001t0005g0022 a0001c0001t0005g0035 others(7): Show |
15 | 165 | 0.0909 | -13 | c.583 others(28): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3S1_chr5_115836935_115919081 | 115845836 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0200 |
2 | 70 | 0.0286 | -13 | c.69+ others(28): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89847375 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0288 | 1 | 86 | 0.0116 | -13 | c.346 others(30): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858479 | GAAAGAAA others(6): Show |
G | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 310 | 0.0032 | -13 | c.345 others(32): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858517 | GAGAGAGA others(6): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0279 | 1 | 310 | 0.0032 | -13 | c.345 others(32): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113890391 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02896.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0003c0005t0002 | a0001c0001t0002g0022 a0001c0001t0002g0057 a0003c0005t0002g0017 |
7 | 258 | 0.0271 | -13 | c.*46 others(24): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 3802 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50927285 | TATGGCCA others(6): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 390 | 0.0026 | -13 | c.543 others(30): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 5/20 | chr15 | TogoVar | |||||||
AP4M1_chr7_100096643_100114039 | 100100468 | TCCGCCAC others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01081.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0003g0010 others(11): Show |
31 | 414 | 0.0749 | -13 | c.-12 others(24): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 1174 | chr7 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31049429 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0263 | 1 | 307 | 0.0033 | -13 | c.-71 others(32): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AP5M1_chr14_57263971_57303742 | 57279576 | GCTGGGCT others(6): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 278 | 0.0036 | -13 | c.721 others(28): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5M1_chr14_57263971_57303742 | 57300718 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(94): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(43): Show |
97 | 102 | 0.9510 | -13 | c.*11 others(26): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1977 | chr14 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4776562 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 199 | 0.0050 | -13 | c.41+ others(26): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4789981 | TCCTCCCC others(6): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 338 | 0.0030 | -13 | c.180 others(28): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00642.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0017 | a0001c0001t0002g0211 a0001c0001t0002g0303 a0001c0001t0002g0304 others(7): Show |
10 | 238 | 0.0420 | -13 | c.526 others(30): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653680 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 others(3): Show |
6 | 363 | 0.0165 | -13 | c.526 others(30): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653682 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 a0001c0001t0004g0195 |
3 | 364 | 0.0082 | -13 | c.526 others(30): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69433917 | TCCTCCTG others(6): Show |
T | intron_variant | MODIFIER | HG03098.hp2 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0205 a0002c0002t0017g0206 |
2 | 208 | 0.0096 | -13 | c.230 others(32): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69641036 | CTGCAGAT others(6): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0025 | 1 | 208 | 0.0048 | -13 | c.-70 others(32): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28909638 | ATGCTGGG others(6): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG01257.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(14): Show | a0001c0001t0004g0045 a0001c0001t0006g0160 a0001c0001t0008g0194 others(22): Show |
25 | 202 | 0.1238 | -13 | c.-20 others(34): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29023441 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0189 | 1 | 22 | 0.0455 | -13 | c.-41 others(32): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA3_chr19_3745772_3766692 | 3748848 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 2 | 143 | 0.0140 | -13 | c.*21 others(24): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 1923 | chr19 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40907367 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0156 | 1 | 150 | 0.0067 | -13 | c.125 others(34): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40907369 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0161 | 1 | 175 | 0.0057 | -13 | c.125 others(34): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40907371 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA18960.hp2 NA19009.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0039 | a0001c0002t0002g0085 a0001c0004t0039g0180 |
2 | 180 | 0.0111 | -13 | c.125 others(34): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40907975 | CTGTGTGG others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02559.hp2 others(9): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0001a0002c0001t0001a0002c0001t0003others(7): Show | a0001c0003t0001g0106 a0001c0003t0001g0159 a0002c0001t0001g0148 others(9): Show |
12 | 190 | 0.0632 | -13 | c.125 others(34): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40928415 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01106.hp1 others(19): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0021others(14): Show | a0001c0002t0001g0137 a0001c0002t0001g0173 a0001c0002t0003g0033 others(19): Show |
22 | 190 | 0.1158 | -13 | c.125 others(32): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40943249 | GAATGCTG others(6): Show |
G | intron_variant | MODIFIER | HG03130.hp1 HG03471.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0006a0001c0003t0030 | a0001c0003t0005g0131 a0001c0003t0006g0134 a0001c0003t0030g0021 |
3 | 190 | 0.0158 | -13 | c.104 others(32): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 7/17 | chr4 | TogoVar |