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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOPEP_chr9_94721699_95092159 | 94743193 | A | AGAAGAGG others(17): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0067a0001c0001t0002g0040 | 2 | 182 | 0.0110 | 24 | c.-13 others(45): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94934315 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0148 | 2 | 182 | 0.0110 | 24 | c.166 others(43): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95043239 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02895.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0002c0008a0007c0006 | a0001c0001t0001a0001c0001t0003a0002c0008t0003others(1): Show | a0001c0001t0001g0120a0001c0001t0003g0060a0001c0001t0003g0061others(7): Show | 10 | 182 | 0.0550 | 24 | c.211 others(45): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95043239 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 182 | 0.0055 | 24 | c.211 others(45): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0211 | 1 | 370 | 0.0027 | 24 | c.317 others(41): 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(17): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02273.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0077a0004c0004t0001g0300 | 2 | 370 | 0.0054 | 24 | c.317 others(41): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29390582 | T | TTTTATTT others(17): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0344 | 1 | 378 | 0.0027 | 24 | c.-21 others(35): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2013 | chr22 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 NA18986.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032a0001c0001t0117 | a0001c0001t0031g0258a0001c0001t0032g0273a0001c0001t0117g0244 | 3 | 308 | 0.0097 | 24 | c.*15 others(37): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02015.hp2 HG02293.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0022a0001c0002t0002g0023others(12): Show | 18 | 394 | 0.0457 | 24 | c.*25 others(35): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585278 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG01515.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0237a0001c0001t0001g0238a0001c0001t0001g0239others(3): Show | 6 | 394 | 0.0152 | 24 | c.43- others(39): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585286 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 394 | 0.0025 | 24 | c.43- others(39): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585286 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01433.hp2 HG02004.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0044a0001c0001t0001g0048others(7): Show | 12 | 394 | 0.0305 | 24 | c.43- others(39): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1S1_chr7_101149476_101166276 | 101160006 | A | ACACACAT others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 432 | 0.0023 | 24 | c.430 others(39): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 318 | 0.0031 | 24 | c.427 others(41): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0002 | a0001c0002t0002g0241a0001c0002t0002g0244a0001c0002t0002g0246others(2): Show | 5 | 268 | 0.0187 | 24 | c.67+ others(39): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2S1_chr19_46833167_46855846 | 46833433 | A | AAGAGAAG others(17): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 424 | 0.0024 | 24 | c.*50 others(35): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4733 | chr19 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78097606 | G | GTGCCTCT others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 226 | 0.0044 | 24 | c.247 others(43): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78134149 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0002 | 1 | 226 | 0.0044 | 24 | c.165 others(43): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 226 | 0.0044 | 24 | c.787 others(41): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 226 | 0.0044 | 24 | c.787 others(43): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82680421 | T | TGGGGCGG others(17): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0111 | 1 | 368 | 0.0027 | 24 | c.105 others(39): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 8/26 | chr15 | TogoVar | ||||||
AP3B2_chr15_82654281_82714875 | 82690920 | T | TGCTGGGA others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0021others(95): Show | 101 | 368 | 0.2745 | 24 | c.114 others(41): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02486.hp1 others(1): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0006a0003c0004t0018 | a0002c0003t0006g0188a0002c0003t0006g0189a0003c0004t0018g0019others(1): Show | 4 | 392 | 0.0102 | 24 | c.185 others(43): 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(17): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 | 1 | 346 | 0.0029 | 24 | c.-71 others(43): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31096670 | C | CATATATA others(17): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0275 | 1 | 346 | 0.0029 | 24 | c.*36 others(35): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 221 | chr14 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006a0001c0001t0006g0034 | 2 | 412 | 0.0049 | 24 | c.*73 others(35): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4779344 | T | TAACACGT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0009a0001c0005t0048 | a0001c0005t0009g0031a0001c0005t0009g0032a0001c0005t0009g0089others(2): Show | 6 | 340 | 0.0177 | 24 | c.42- others(39): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98643817 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0343 | 1 | 366 | 0.0027 | 24 | c.-20 others(35): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 1472 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 366 | 0.0027 | 24 | c.526 others(41): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0109 | 1 | 366 | 0.0027 | 24 | c.526 others(41): 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(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01891.hp2 HG02717.hp2 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0003a0001c0001t0030a0007c0011t0025 | a0001c0001t0003g0155a0001c0001t0030g0007a0007c0011t0025g0204 | 3 | 366 | 0.0082 | 24 | c.956 others(39): 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(17): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 366 | 0.0027 | 24 | c.956 others(39): 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(17): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 366 | 0.0027 | 24 | c.272 others(41): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98707709 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 366 | 0.0027 | 24 | c.272 others(41): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 210 | 0.0048 | 24 | c.-70 others(43): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0182 | 1 | 210 | 0.0048 | 24 | c.-70 others(43): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658284 | C | CTTTTTCT others(17): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03209.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0034 | a0001c0001t0002g0196a0001c0001t0006g0146a0001c0001t0034g0207 | 3 | 210 | 0.0143 | 24 | c.-70 others(43): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28901908 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18944.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0041a0001c0001t0005g0088a0001c0001t0030g0064 | 3 | 204 | 0.0147 | 24 | c.-20 others(45): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28908315 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0106 | 1 | 204 | 0.0049 | 24 | c.-20 others(45): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 28987725 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01978.hp1 HG03195.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0002g0195others(4): Show | 7 | 204 | 0.0343 | 24 | c.-94 others(41): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29045103 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 204 | 0.0049 | 24 | c.-40 others(41): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29045103 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02615.hp1 HG02896.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0007a0002c0002t0011 | a0002c0002t0005g0026a0002c0002t0007g0002a0002c0002t0007g0115others(1): Show | 4 | 204 | 0.0196 | 24 | c.-40 others(41): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29055668 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 204 | 0.0049 | 24 | c.951 others(39): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02015.hp2 HG02055.hp2 others(16): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0005c0004t0001 | a0001c0001t0001g0032a0001c0001t0001g0058a0001c0001t0001g0061others(16): Show | 19 | 358 | 0.0531 | 24 | c.813 others(41): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26524955 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01978.hp2 HG02738.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0002a0004c0013t0002 | a0001c0001t0001g0126a0001c0001t0002g0291a0001c0001t0002g0292others(2): Show | 5 | 358 | 0.0140 | 24 | c.814 others(41): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB2_chr4_40805027_41219542 | 40964753 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0002a0001c0002t0010a0001c0002t0049others(8): Show | a0001c0002t0002g0061a0001c0002t0002g0175a0001c0002t0010g0006others(12): Show | 15 | 192 | 0.0781 | 24 | c.836 others(43): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41000105 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0033 | 1 | 192 | 0.0052 | 24 | c.835 others(43): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159901 | A | AAGGAGGA others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0078 | 1 | 192 | 0.0052 | 24 | c.-41 others(45): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159907 | A | AAGGAGAA others(17): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0111 | 1 | 192 | 0.0052 | 24 | c.-41 others(45): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159907 | A | AAGGAGAA others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0046 | 1 | 192 | 0.0052 | 24 | c.-41 others(45): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar |