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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO5_chr11_22188085_22288357 | 22286492 | G | GTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0229 | 1 | 362 | 0.0028 | 30 | c.*67 others(41): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 3136 | chr11 | TogoVar | |||||||
ANO6_chr12_45211095_45437349 | 45317113 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03471.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064 a0001c0001t0001g0096 a0001c0001t0002g0227 |
3 | 30 | 0.1000 | 30 | c.151 others(49): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANOS1_chrX_8523874_8737137 | 8682354 | C | CCACACAC others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0021 | 1 | 205 | 0.0049 | 30 | c.255 others(49): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 2/13 | chrX | TogoVar | |||||||
ANOS1_chrX_8523874_8737137 | 8725639 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18977.hp1 NA18990.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0002a0001c0001t0003a0008c0009t0003 | a0001c0001t0002g0147 a0001c0001t0002g0222 a0001c0001t0003g0208 others(1): Show |
4 | 227 | 0.0176 | 30 | c.207 others(47): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 1/13 | chrX | TogoVar | |||||||
ANTXR1_chr2_69008179_69254327 | 69219384 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 52 | 0.0192 | 30 | c.143 others(51): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79926931 | A | ATGTGTGC others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0044a0001c0001t0051a0001c0001t0070others(1): Show | a0001c0001t0044g0036 a0001c0001t0051g0098 a0001c0001t0070g0203 others(2): Show |
5 | 60 | 0.0833 | 30 | c.142 others(51): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 79926931 | A | ATGTGTGC others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0004c0005t0026 | a0001c0001t0005g0061 a0004c0005t0026g0022 |
2 | 57 | 0.0351 | 30 | c.142 others(51): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 79926952 | T | TACACATG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01346.hp2 HG02015.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0024a0001c0001t0032others(4): Show | a0001c0001t0021g0126 a0001c0001t0021g0128 a0001c0001t0021g0129 others(9): Show |
12 | 190 | 0.0632 | 30 | c.142 others(51): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 79926976 | T | TACACATG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(54): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0066 others(53): Show |
57 | 194 | 0.2938 | 30 | c.142 others(51): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 79972920 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0122 | 1 | 194 | 0.0052 | 30 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 79972920 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005a0002c0002t0008others(3): Show | a0002c0002t0004g0079 a0002c0002t0004g0109 a0002c0002t0004g0163 others(6): Show |
9 | 202 | 0.0446 | 30 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | |||||||
ANTXRL_chr10_46281997_46335129 | 46295583 | G | GGTTAGAG others(23): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02293.hp1 HG02735.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0013others(1): Show | a0001c0002t0001a0001c0003t0001a0003c0013t0002others(1): Show | a0001c0002t0001g0006 a0001c0003t0001g0126 a0003c0013t0002g0055 others(2): Show |
5 | 277 | 0.0181 | 30 | c.393 others(45): Show |
ANTXRL | ENSG00000274209.6 | transcript | ENST00000620264.5 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168096911 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 218 | 0.0046 | 30 | c.18+ others(45): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168096926 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03225.hp2 NA18951.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(6): Show |
9 | 162 | 0.0556 | 30 | c.18+ others(45): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168096926 | A | ATATATGT others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 154 | 0.0065 | 30 | c.18+ others(45): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA2R_chr5_43034371_43045319 | 43043790 | T | TATATATT others(23): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 294 | 0.0034 | 30 | c.-37 others(41): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3472 | chr5 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60398993 | C | CGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 222 | 0.0045 | 30 | c.-10 others(41): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1008 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60399021 | A | AGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 NA18945.hp1 NA18952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0144 others(1): Show |
4 | 141 | 0.0284 | 30 | c.-10 others(41): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1036 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60399021 | A | AGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00642.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0086 others(29): Show |
32 | 169 | 0.1893 | 30 | c.-10 others(41): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1036 | chr15 | TogoVar | |||||||
ANXA4_chr2_69737134_69832112 | 69757238 | T | TTTTTTAT others(23): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0304 | 1 | 338 | 0.0030 | 30 | c.-47 others(49): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151140594 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091 a0001c0001t0002g0204 |
2 | 348 | 0.0057 | 30 | c.19- others(43): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 2/25 | chr5 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36517214 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01071.hp1 others(15): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0049 others(15): Show |
18 | 133 | 0.1353 | 30 | c.160 others(49): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36678600 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0270 | 1 | 101 | 0.0099 | 30 | c.224 others(47): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94728239 | G | GCGCGCGC others(23): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 a0001c0001t0001g0142 |
2 | 45 | 0.0444 | 30 | c.-13 others(49): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94743211 | G | GGAAGAAG others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0180 | 1 | 152 | 0.0066 | 30 | c.-13 others(51): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03209.hp1 HG03453.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0273 a0003c0003t0004g0074 a0003c0003t0004g0094 |
3 | 244 | 0.0123 | 30 | c.317 others(47): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 NA19082.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159 a0001c0002t0002g0255 |
2 | 10 | 0.2000 | 30 | c.*25 others(41): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585291 | G | GAAAGAAG others(23): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0042 | 1 | 391 | 0.0026 | 30 | c.43- others(45): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 182 | 0.0055 | 30 | c.427 others(47): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223756338 | G | GGAAGAAA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0075 | 1 | 301 | 0.0033 | 30 | c.*23 others(41): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2376 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223756338 | G | GGAAGAAA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0071 | 1 | 301 | 0.0033 | 30 | c.*23 others(41): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2376 | chr2 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03516.hp2 NA18985.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0006 | a0001c0002t0002g0171 a0001c0002t0002g0244 a0001c0002t0002g0251 others(1): Show |
4 | 5 | 0.8000 | 30 | c.67+ others(45): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833424 | G | GGAGAAGA others(23): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 409 | 0.0024 | 30 | c.*50 others(41): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4742 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46833427 | A | AAAGAGAA others(23): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02965.hp1 HG03098.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0014 a0001c0001t0001g0151 a0001c0001t0001g0184 others(4): Show |
7 | 189 | 0.0370 | 30 | c.*50 others(41): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46833445 | G | GAGAAGAG others(23): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 420 | 0.0024 | 30 | c.*50 others(41): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4721 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 111 | 0.0090 | 30 | c.787 others(49): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 111 | 0.0090 | 30 | c.787 others(49): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCCCACAC others(23): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02004.hp1 NA18992.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 |
3 | 80 | 0.0375 | 30 | c.185 others(49): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 51007479 | C | CTGGATTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 390 | 0.0026 | 30 | c.*48 others(41): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1585 | chr15 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31096670 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0194 | 1 | 332 | 0.0030 | 30 | c.*36 others(41): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 221 | chr14 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98665255 | C | CACATATA others(23): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 185 | 0.0054 | 30 | c.956 others(45): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665255 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18942.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0007 a0001c0001t0003g0125 a0001c0001t0003g0167 others(1): Show |
5 | 189 | 0.0265 | 30 | c.956 others(45): 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(23): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 a0001c0001t0003g0152 |
2 | 215 | 0.0093 | 30 | c.956 others(45): 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(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 a0001c0001t0002g0308 |
2 | 152 | 0.0132 | 30 | c.272 others(47): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69636828 | A | AGAGAGGG others(23): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18964.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0002g0199 |
3 | 157 | 0.0191 | 30 | c.-70 others(49): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658282 | T | TTTTCTTT others(23): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18979.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0086 a0002c0002t0003g0131 |
2 | 145 | 0.0138 | 30 | c.-70 others(49): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28987725 | G | GACATATA others(23): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0040 | 1 | 101 | 0.0099 | 30 | c.-94 others(47): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28987725 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0042 | a0001c0001t0002g0153 a0001c0001t0042g0097 |
2 | 102 | 0.0196 | 30 | c.-94 others(47): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40964753 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01358.hp1 others(8): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0038others(4): Show | a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0002g0071 others(8): Show |
11 | 17 | 0.6471 | 30 | c.836 others(49): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159907 | A | AAGGAGAA others(23): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0069 | 1 | 97 | 0.0103 | 30 | c.-41 others(51): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar |