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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP4S1_chr14_31020649_31101450 | 31039570 | T | TTTTG | intron_variant | MODIFIER | HG00544.hp2 HG01192.hp1 HG02055.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0019 | a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0322 others(2): Show |
5 | 344 | 0.0145 | 4 | c.-72 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049464 | T | TACAC | intron_variant | MODIFIER | NA18987.hp2 NA18999.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0017 | a0001c0001t0001g0057 a0001c0001t0008g0022 a0001c0001t0017g0075 |
3 | 330 | 0.0091 | 4 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049474 | T | TACAC | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01256.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0098 a0001c0001t0003g0002 a0001c0001t0003g0245 others(2): Show |
6 | 82 | 0.0732 | 4 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31058517 | C | CTGTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0004g0042 others(3): Show |
6 | 299 | 0.0201 | 4 | c.-71 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31058527 | A | ATGTG | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0155 others(2): Show |
5 | 92 | 0.0543 | 4 | c.-71 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31074324 | C | CAAAT | intron_variant | MODIFIER | HG01106.hp2 HG02040.hp1 HG02486.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0115 a0001c0001t0001g0270 others(11): Show |
14 | 156 | 0.0897 | 4 | c.294 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTT | intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG02080.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 others(31): Show |
34 | 144 | 0.2361 | 4 | c.306 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31086410 | A | ATTTG | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0240 a0001c0001t0005g0083 |
3 | 341 | 0.0088 | 4 | c.306 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5B1_chr11_65768898_65785976 | 65769257 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02055.hp2 HG03471.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0007a0004c0005 | a0001c0001t0034a0002c0007t0002a0004c0005t0006 | a0001c0001t0034g0044 a0002c0007t0002g0006 a0004c0005t0006g0008 |
8 | 67 | 0.1194 | 4 | c.*85 others(15): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 4640 | chr11 | TogoVar | |||||||
AP5B1_chr11_65768898_65785976 | 65783841 | A | AAAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0006others(21): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(44): Show | a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0009g0009 others(44): Show |
280 | 421 | 0.6651 | 4 | c.-32 others(15): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 2866 | chr11 | TogoVar | |||||||
AP5M1_chr14_57263971_57303742 | 57300718 | A | ATTTT | downstream_gene_variant | MODIFIER | HG00733.hp1 HG02486.hp2 HG02896.hp1 others(2): Show |
a0001a0006 | a0001c0002a0006c0008 | a0001c0002t0002a0001c0002t0007a0006c0008t0003 | a0001c0002t0002g0003 a0001c0002t0002g0040 a0001c0002t0007g0039 others(1): Show |
5 | 10 | 0.5000 | 4 | c.*11 others(17): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1977 | chr14 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3816995 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0004g0003 a0001c0001t0004g0012 others(17): Show |
64 | 348 | 0.1839 | 4 | c.-37 others(15): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3551 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3818084 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(93): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 others(23): Show |
96 | 110 | 0.8727 | 4 | c.-26 others(15): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2462 | chr20 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3824931 | C | CAAAA | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02155.hp1 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0028a0001c0001t0043others(2): Show | a0001c0001t0010g0002 a0001c0001t0028g0008 a0001c0001t0043g0002 others(2): Show |
9 | 214 | 0.0421 | 4 | c.*64 others(13): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3/3 | 651 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3831646 | G | GGTGT | downstream_gene_variant | MODIFIER | HG03225.hp2 NA19043.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0029 | a0001c0001t0002g0002 a0001c0001t0018g0008 a0001c0001t0029g0024 |
3 | 388 | 0.0077 | 4 | c.*73 others(15): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2809 | chr20 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4770864 | G | GGTGT | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01361.hp2 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0004a0004c0007others(1): Show | a0001c0002t0003a0003c0004t0004a0003c0004t0007others(3): Show | a0001c0002t0003g0008 a0001c0002t0003g0070 a0001c0002t0003g0071 others(8): Show |
21 | 115 | 0.1826 | 4 | c.-48 others(15): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 4758 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4777353 | C | CTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00597.hp1 others(69): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0036 a0001c0001t0001g0105 a0001c0001t0001g0106 others(50): Show |
72 | 302 | 0.2384 | 4 | c.41+ others(19): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98642596 | C | CTTTA | upstream_gene_variant | MODIFIER | NA18949.hp1 NA18985.hp1 NA19005.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
5 | 364 | 0.0137 | 4 | c.-32 others(15): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 2693 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98659752 | G | GAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG02015.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 a0001c0001t0002g0312 a0001c0001t0002g0315 others(5): Show |
8 | 170 | 0.0471 | 4 | c.710 others(19): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98672153 | T | TTTTA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(115): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(107): Show |
118 | 205 | 0.5756 | 4 | c.179 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98689474 | C | CTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(66): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(14): Show | a0001c0001t0002g0199 a0001c0001t0002g0211 a0001c0001t0002g0301 others(66): Show |
69 | 346 | 0.1994 | 4 | c.230 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98689495 | T | TGAGA | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0017g0190 others(1): Show |
4 | 277 | 0.0144 | 4 | c.230 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98689495 | T | TGTGA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp2 others(56): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(7): Show | a0001c0001t0003g0007 a0001c0001t0003g0119 a0001c0001t0003g0124 others(54): Show |
59 | 332 | 0.1777 | 4 | c.230 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98707692 | C | CTATA | intron_variant | MODIFIER | HG02129.hp1 HG02258.hp2 HG02683.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0097 a0001c0001t0001g0109 others(15): Show |
18 | 168 | 0.1071 | 4 | c.272 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98715235 | C | CATAT | intron_variant | MODIFIER | HG02630.hp1 NA18945.hp2 NA18955.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0230 a0001c0001t0003g0160 a0001c0001t0003g0167 others(1): Show |
4 | 76 | 0.0526 | 4 | c.295 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69436575 | C | CTGTT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01070.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 others(48): Show |
51 | 208 | 0.2452 | 4 | c.230 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69450056 | G | GTTTT | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02486.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0034a0002c0002t0007others(3): Show | a0001c0001t0007g0051 a0001c0001t0034g0207 a0002c0002t0007g0006 others(8): Show |
11 | 132 | 0.0833 | 4 | c.196 others(21): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69512070 | T | TAATA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01346.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0011 a0002c0002t0001g0100 a0002c0002t0002g0116 others(40): Show |
43 | 205 | 0.2098 | 4 | c.120 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69522068 | T | TACAC | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01074.hp1 others(64): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0033others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0050 others(64): Show |
67 | 135 | 0.4963 | 4 | c.-69 others(21): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69523477 | G | GTATA | intron_variant | MODIFIER | HG02055.hp1 HG02135.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0036a0001c0004t0002 | a0001c0001t0002g0054 a0001c0001t0002g0074 a0001c0001t0002g0077 others(6): Show |
9 | 159 | 0.0566 | 4 | c.-69 others(21): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69523495 | A | ATATG | intron_variant | MODIFIER | HG01515.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0172 |
2 | 200 | 0.0100 | 4 | c.-69 others(21): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69537042 | G | GATAT | intron_variant | MODIFIER | HG02723.hp2 NA19240.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012 | a0001c0001t0002g0079 a0001c0001t0005g0103 a0001c0001t0012g0144 |
3 | 160 | 0.0188 | 4 | c.-69 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69558543 | C | CACAT | intron_variant | MODIFIER | NA18939.hp2 NA19240.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0134 a0001c0001t0002g0079 a0001c0001t0005g0103 |
3 | 208 | 0.0144 | 4 | c.-69 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69569448 | A | AGTGT | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0002c0002t0007g0039 |
3 | 12 | 0.2500 | 4 | c.-69 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69600806 | T | TAATA | intron_variant | MODIFIER | HG01515.hp2 HG02451.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0036 | a0001c0001t0002g0172 a0001c0001t0007g0051 a0001c0001t0036g0208 |
3 | 176 | 0.0170 | 4 | c.-70 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636890 | A | AGAAG | intron_variant | MODIFIER | HG01074.hp2 HG02809.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0180 a0001c0001t0008g0069 a0001c0001t0008g0072 others(1): Show |
4 | 67 | 0.0597 | 4 | c.-70 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAA | intron_variant | MODIFIER | HG02004.hp2 HG02572.hp2 HG02723.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0176 a0001c0001t0002g0091 a0001c0001t0002g0197 others(3): Show |
6 | 118 | 0.0508 | 4 | c.-70 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636926 | A | AGAAG | intron_variant | MODIFIER | HG01074.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0059 a0001c0001t0004g0063 |
2 | 156 | 0.0128 | 4 | c.-70 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658300 | C | CTCTT | intron_variant | MODIFIER | HG00609.hp2 HG01071.hp1 HG01123.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(15): Show |
18 | 177 | 0.1017 | 4 | c.-70 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69675581 | C | CAAAA | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01361.hp2 HG01515.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0032 | a0001c0001t0001g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 others(2): Show |
5 | 174 | 0.0287 | 4 | c.-34 others(15): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 3211 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28892639 | A | ATGTG | intron_variant | MODIFIER | HG00323.hp2 HG01258.hp1 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0019a0001c0001t0020others(2): Show | a0001c0001t0002g0183 a0001c0001t0019g0179 a0001c0001t0020g0181 others(2): Show |
5 | 175 | 0.0286 | 4 | c.-20 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28897617 | C | CAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01257.hp2 HG01981.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0025others(10): Show | a0001c0001t0002g0006 a0001c0001t0002g0109 a0001c0001t0003g0150 others(15): Show |
18 | 60 | 0.3000 | 4 | c.-20 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28901908 | A | ATGTG | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0011 | a0002c0002t0003g0172 a0002c0002t0011g0171 |
2 | 9 | 0.2222 | 4 | c.-20 others(25): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28942441 | T | TTGTC | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00738.hp2 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0051 others(57): Show |
60 | 202 | 0.2970 | 4 | c.-95 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28969126 | C | CTCTT | intron_variant | MODIFIER | HG00738.hp1 HG02293.hp1 NA18944.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0024 | a0001c0001t0003g0164 a0001c0001t0005g0024 a0001c0001t0005g0034 others(3): Show |
6 | 197 | 0.0305 | 4 | c.-94 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28969128 | T | TTTTC | intron_variant | MODIFIER | HG00544.hp2 HG01496.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0030 | a0001c0001t0001g0032 a0001c0001t0002g0134 a0001c0001t0030g0064 |
3 | 12 | 0.2500 | 4 | c.-94 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28984934 | T | TCTCC | intron_variant | MODIFIER | NA18956.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0065 a0001c0001t0005g0077 |
2 | 202 | 0.0099 | 4 | c.-94 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28987725 | G | GATAT | intron_variant | MODIFIER | HG01257.hp2 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0002a0001c0009t0014a0002c0002t0003others(2): Show | a0001c0001t0002g0006 a0001c0009t0014g0070 a0002c0002t0003g0101 others(4): Show |
7 | 107 | 0.0654 | 4 | c.-94 others(21): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28987741 | T | TATAG | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0008a0002c0006t0017 | a0001c0001t0008g0163 a0001c0001t0008g0194 a0002c0006t0017g0114 |
3 | 202 | 0.0149 | 4 | c.-94 others(21): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29014704 | G | GTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02717.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0003a0001c0007t0004a0002c0002t0003others(5): Show | a0001c0001t0003g0173 a0001c0007t0004g0043 a0001c0007t0004g0044 others(6): Show |
9 | 89 | 0.1011 | 4 | c.-41 others(23): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |