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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APOBEC3D_chr22_39016127_39038277 | 39032759 | ATTT | A | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01109.hp2 others(43): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(31): Show |
46 | 139 | 0.3309 | -3 | c.*46 others(12): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 7/7 | 468 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOBEC3D_chr22_39016127_39038277 | 39037834 | GAAA | G | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0019a0001c0001t0021a0001c0001t0024others(2): Show | a0001c0001t0019g0012 a0001c0001t0021g0056 a0001c0001t0021g0153 others(4): Show |
8 | 143 | 0.0559 | -3 | c.*55 others(14): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 4558 | chr22 | TogoVar | |||||||
APOBEC3F_chr22_39035864_39060972 | 39037834 | GAAA | G | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02109.hp1 others(5): Show |
a0003a0004 | a0003c0005a0004c0006 | a0003c0005t0009a0003c0005t0011a0004c0006t0017 | a0003c0005t0009g0010 a0003c0005t0011g0010 a0003c0005t0011g0136 others(2): Show |
8 | 139 | 0.0576 | -3 | c.-31 others(14): Show |
APOBEC3F | ENSG00000128394.17 | transcript | ENST00000308521.10 | protein_coding | 3029 | chr22 | TogoVar | |||||||
APOBEC3F_chr22_39035864_39060972 | 39042307 | TCTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00673.hp1 others(42): Show |
a0002a0004 | a0002c0002a0004c0014 | a0002c0002t0001a0002c0002t0041a0004c0014t0001 | a0002c0002t0001g0004 a0002c0002t0001g0018 a0002c0002t0001g0053 others(16): Show |
45 | 420 | 0.1071 | -3 | c.18- others(16): Show |
APOBEC3F | ENSG00000128394.17 | transcript | ENST00000308521.10 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
APOBEC3F_chr22_39035864_39060972 | 39049006 | AAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(260): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0018others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(39): Show | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 others(123): Show |
263 | 420 | 0.6262 | -3 | c.567 others(18): Show |
APOBEC3F | ENSG00000128394.17 | transcript | ENST00000308521.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOBEC3H_chr22_39092244_39109067 | 39097521 | ACTG | A | intron_variant | MODIFIER | HG01123.hp2 HG01261.hp2 HG01928.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0011 | 6 | 416 | 0.0144 | -3 | c.-8+ others(16): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOBEC3H_chr22_39092244_39109067 | 39100317 | TAAC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
a0003a0004 | a0003c0003a0003c0006a0004c0004others(3): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0004others(8): Show | a0003c0003t0002g0003 a0003c0003t0002g0008 a0003c0003t0002g0010 others(43): Show |
129 | 416 | 0.3101 | -3 | c.45_ others(8): Show |
p.Asn others(5): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 2/5 | 152/1029 | 45/552 | 15/183 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
APOBEC3H_chr22_39092244_39109067 | 39102474 | TCTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp1 others(65): Show |
a0002a0006a0009 | a0002c0002a0006c0009a0009c0013 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(2): Show | a0002c0002t0002g0063 a0002c0002t0003g0006 a0002c0002t0003g0007 others(19): Show |
68 | 416 | 0.1635 | -3 | c.543 others(18): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOBEC3H_chr22_39092244_39109067 | 39104791 | AAAC | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01175.hp1 others(31): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0063 a0002c0002t0003g0006 a0002c0002t0003g0027 others(7): Show |
34 | 416 | 0.0817 | -3 | c.*10 others(14): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 725 | chr22 | TogoVar | |||||||
APOBR_chr16_28489643_28503964 | 28496093 | GGGA | G | disruptive_inframe_deletion | MODERATE | HG01106.hp2 HG01891.hp1 HG02257.hp1 others(17): Show |
a0005a0011a0013others(1): Show | a0005c0009a0005c0054a0011c0017others(3): Show | a0005c0009t0001a0005c0054t0001a0011c0017t0001others(3): Show | a0005c0009t0001g0001 a0005c0054t0001g0001 a0011c0017t0001g0001 others(3): Show |
20 | 404 | 0.0495 | -3 | c.105 others(12): Show |
p.Glu others(6): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 1097/3792 | 1058/3294 | 353/1097 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
APOBR_chr16_28489643_28503964 | 28501560 | CCCA | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(26): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0003t0001g0001 a0001c0006t0001g0001 others(2): Show |
29 | 404 | 0.0718 | -3 | c.*30 others(14): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2597 | chr16 | TogoVar | |||||||
APOC1_chr19_44909608_44924346 | 44910674 | CTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG01257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0019 others(7): Show |
13 | 162 | 0.0802 | -3 | c.-40 others(14): Show |
APOC1 | ENSG00000130208.10 | transcript | ENST00000592535.6 | protein_coding | 3933 | chr19 | TogoVar | |||||||
APOC2_chr19_44941051_44954565 | 44941370 | TCTC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(161): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(46): Show |
164 | 396 | 0.4141 | -3 | c.-47 others(14): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 4680 | chr19 | TogoVar | |||||||
APOC2_chr19_44941051_44954565 | 44942603 | CGTG | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(9): Show |
52 | 395 | 0.1316 | -3 | c.-34 others(14): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 3447 | chr19 | TogoVar | |||||||
APOC2_chr19_44941051_44954565 | 44953026 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(218): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(59): Show |
221 | 335 | 0.6597 | -3 | c.*37 others(14): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 3462 | chr19 | TogoVar | |||||||
APOC3_chr11_116824907_116838072 | 116831241 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01515.hp2 HG01517.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033 a0001c0001t0001g0080 a0001c0001t0003g0014 |
7 | 448 | 0.0156 | -3 | c.179 others(18): Show |
APOC3 | ENSG00000110245.12 | transcript | ENST00000227667.8 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
APOC4_chr19_44937237_44950496 | 44941370 | TCTC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(167): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(16): Show |
170 | 396 | 0.4293 | -3 | c.-90 others(12): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 866 | chr19 | TogoVar | |||||||
APOC4_chr19_44937237_44950496 | 44942603 | CGTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(45): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0005 | a0002c0002t0001a0003c0003t0001a0003c0003t0004others(1): Show | a0002c0002t0001g0021 a0003c0003t0001g0004 a0003c0003t0001g0009 others(8): Show |
48 | 395 | 0.1215 | -3 | c.76+ others(16): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
APOD_chr3_195563705_195588940 | 195566367 | TGAA | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 others(28): Show |
43 | 436 | 0.0986 | -3 | c.*25 others(14): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 2337 | chr3 | TogoVar | |||||||
APOD_chr3_195563705_195588940 | 195578011 | TAAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(117): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0027 others(65): Show |
120 | 436 | 0.2752 | -3 | c.123 others(20): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
APOE_chr19_44900796_44914393 | 44910674 | CTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01257.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0002c0002t0001g0003 others(2): Show |
15 | 160 | 0.0938 | -3 | c.*14 others(14): Show |
APOE | ENSG00000130203.10 | transcript | ENST00000252486.9 | protein_coding | 1282 | chr19 | TogoVar | |||||||
APOH_chr17_66207033_66234415 | 66232625 | CAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01169.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0317 a0002c0002t0001g0011 others(4): Show |
7 | 39 | 0.1795 | -3 | c.-32 others(14): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3211 | chr17 | TogoVar | |||||||
APOL2_chr22_36221209_36244527 | 36227315 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017a0001c0001t0027others(2): Show | a0001c0001t0011g0027 a0001c0001t0011g0130 a0001c0001t0011g0131 others(5): Show |
10 | 71 | 0.1408 | -3 | c.*86 others(10): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 5/5 | 86 | chr22 | TogoVar | ||||||
APOL2_chr22_36221209_36244527 | 36231475 | AAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(78): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(12): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0035 others(34): Show |
81 | 382 | 0.2120 | -3 | c.11- others(14): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
APOL2_chr22_36221209_36244527 | 36238474 | GTCA | G | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01123.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0014 | a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0013g0033 others(2): Show |
12 | 382 | 0.0314 | -3 | c.-13 others(20): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
APOL2_chr22_36221209_36244527 | 36241975 | ATTT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0051 others(27): Show |
53 | 323 | 0.1641 | -3 | c.-26 others(14): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 2449 | chr22 | TogoVar | |||||||
APOL3_chr22_36135329_36165755 | 36154489 | CAAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(51): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0040 others(31): Show |
54 | 364 | 0.1484 | -3 | c.-87 others(20): Show |
APOL3 | ENSG00000128284.20 | transcript | ENST00000424878.4 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
APOL6_chr22_35643446_35673404 | 35656827 | TTGG | T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02717.hp1 others(4): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0021a0002c0002t0022a0002c0002t0041others(2): Show | a0002c0002t0021g0028 a0002c0002t0022g0061 a0002c0002t0022g0063 others(3): Show |
7 | 384 | 0.0182 | -3 | c.50+ others(16): Show |
APOL6 | ENSG00000221963.6 | transcript | ENST00000409652.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOLD1_chr12_12780659_12796466 | 12790108 | ATTC | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(135): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(12): Show | a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0017g0002 others(12): Show |
138 | 426 | 0.3239 | -3 | c.*24 others(14): Show |
APOLD1 | ENSG00000178878.13 | transcript | ENST00000356591.5 | protein_coding | 2/2 | 2461 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APOLD1_chr12_12780659_12796466 | 12795128 | CTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(216): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(31): Show |
219 | 416 | 0.5264 | -3 | c.*74 others(14): Show |
APOLD1 | ENSG00000178878.13 | transcript | ENST00000356591.5 | protein_coding | 3663 | chr12 | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85021850 | CCTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016a0001c0001t0048others(1): Show | a0001c0001t0010g0220 a0001c0001t0016g0219 a0001c0001t0048g0218 others(1): Show |
4 | 254 | 0.0157 | -3 | c.15+ others(20): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 1/8 | chrX | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85038524 | GTTT | G | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0131 a0001c0001t0001g0204 a0001c0001t0002g0088 others(19): Show |
22 | 70 | 0.3143 | -3 | c.16- others(18): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85095825 | CAAA | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0012others(11): Show | a0001c0001t0003g0099 a0001c0001t0009g0193 a0001c0001t0009g0196 others(22): Show |
26 | 74 | 0.3514 | -3 | c.*81 others(14): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 2511 | chrX | TogoVar | |||||||
APOO_chrX_23828353_23912938 | 23849583 | TAAA | T | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01993.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 others(13): Show |
16 | 80 | 0.2000 | -3 | c.561 others(20): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 7/8 | chrX | TogoVar | |||||||
APOO_chrX_23828353_23912938 | 23881947 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0002g0143 others(68): Show |
71 | 98 | 0.7245 | -3 | c.10- others(16): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
APOO_chrX_23828353_23912938 | 23892335 | TCCG | T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(74): Show |
77 | 267 | 0.2884 | -3 | c.10- others(20): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60470793 | ATTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0009a0002c0002t0014a0002c0002t0018others(9): Show | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | 140 | 0.1786 | -3 | c.504 others(20): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60491949 | CCCT | C | intron_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | 144 | 0.0486 | -3 | c.379 others(20): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60493633 | CTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | 119 | 0.0588 | -3 | c.379 others(18): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60495436 | TTTA | T | intron_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG02723.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0033 a0002c0002t0004g0035 a0002c0002t0004g0036 others(2): Show |
5 | 144 | 0.0347 | -3 | c.228 others(18): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60505676 | GTTT | G | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG03041.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(2): Show |
5 | 45 | 0.1111 | -3 | c.139 others(20): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60512958 | CTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0009a0002c0002t0014a0002c0002t0018others(9): Show | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | 100 | 0.2500 | -3 | c.139 others(22): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60518836 | CTTT | C | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | 144 | 0.0486 | -3 | c.138 others(20): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105174853 | ATGC | A | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG01123.hp1 others(36): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0019a0001c0006t0004 | a0001c0001t0004g0001 a0001c0001t0004g0006 a0001c0001t0004g0014 others(23): Show |
39 | 390 | 0.1000 | -3 | c.186 others(20): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 20/20 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105175836 | TAAG | T | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 HG02071.hp2 others(14): Show |
a0001a0010 | a0001c0004a0010c0015 | a0001c0004t0006a0010c0015t0006 | a0001c0004t0006g0005 a0001c0004t0006g0100 a0001c0004t0006g0102 others(12): Show |
17 | 390 | 0.0436 | -3 | c.186 others(20): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 20/20 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105183070 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(129): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0023 others(110): Show |
132 | 166 | 0.7952 | -3 | c.163 others(22): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105186696 | TATC | T | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp2 NA20129.hp1 |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0144 a0002c0007t0002g0145 a0002c0007t0002g0146 |
3 | 390 | 0.0077 | -3 | c.163 others(22): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105186708 | TATC | T | intron_variant | MODIFIER | NA18948.hp2 NA18950.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 a0001c0001t0001g0300 a0001c0001t0001g0301 |
3 | 390 | 0.0077 | -3 | c.163 others(22): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105196425 | CTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01496.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0005a0002c0002t0002 | a0001c0001t0001g0298 a0001c0001t0001g0319 a0001c0003t0005g0143 others(11): Show |
14 | 32 | 0.4375 | -3 | c.105 others(20): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 11/20 | chr12 | TogoVar | |||||||
APRT_chr16_88804339_88816928 | 88809365 | TCTG | T | 3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG02647.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0017 a0001c0001t0006g0047 a0001c0001t0009g0053 |
6 | 436 | 0.0138 | -3 | c.*33 others(12): Show |
APRT | ENSG00000198931.11 | transcript | ENST00000378364.8 | protein_coding | 5/5 | 330 | chr16 | TogoVar |