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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANP32E_chr1_150213417_150241112 | 150221604 | G | GGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0013others(6): Show | a0001c0002t0001g0008a0001c0002t0001g0010a0001c0002t0001g0025others(37): Show | 49 | 370 | 0.1324 | 28 | c.737 others(43): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ANP32E_chr1_150213417_150241112 | 150221604 | G | GGGAGGGA others(21): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 370 | 0.0027 | 28 | c.737 others(43): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ANP32E_chr1_150213417_150241112 | 150221604 | G | GGGAGGGA others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03139.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0012 | 2 | 370 | 0.0054 | 28 | c.737 others(43): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ANTXR1_chr2_69008179_69254327 | 69096257 | A | AAAGGAAG others(21): Show |
intron_variant | MODIFIER | NA18987.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0178 | 2 | 206 | 0.0097 | 28 | c.703 others(45): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANTXR1_chr2_69008179_69254327 | 69219384 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02040.hp2 HG02165.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0052a0001c0001t0001g0157a0001c0001t0001g0163others(4): Show | 7 | 206 | 0.0340 | 28 | c.143 others(49): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANTXR2_chr4_79896146_80078229 | 79926882 | T | TATATATG others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03098.hp1 |
a0006a0007 | a0006c0006a0007c0009 | a0006c0006t0073a0007c0009t0049 | a0006c0006t0073g0252a0007c0009t0049g0081 | 2 | 268 | 0.0075 | 28 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79926893 | G | GTATATAC others(21): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0250 | 1 | 268 | 0.0037 | 28 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79926952 | T | TACACATG others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 268 | 0.0037 | 28 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79926969 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01099.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0027a0001c0003t0030others(1): Show | a0001c0003t0011g0116a0001c0003t0011g0117a0001c0003t0011g0132others(5): Show | 8 | 268 | 0.0299 | 28 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79926969 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01070.hp1 others(78): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0002g0207a0001c0001t0002g0210a0001c0001t0002g0211others(77): Show | 81 | 268 | 0.3022 | 28 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79926976 | T | TACACATG others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0013others(20): Show | a0001c0001t0005g0050a0001c0001t0005g0060a0001c0001t0005g0062others(39): Show | 42 | 268 | 0.1567 | 28 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79926976 | T | TACACATG others(21): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0177 | 1 | 268 | 0.0037 | 28 | c.142 others(49): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANTXR2_chr4_79896146_80078229 | 79926995 | A | ATATATAC others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0131 | 1 | 268 | 0.0037 | 28 | 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(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01169.hp2 HG03834.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0008a0002c0002t0019others(1): Show | a0002c0002t0004g0045a0002c0002t0004g0121a0002c0002t0008g0027others(2): Show | 5 | 268 | 0.0187 | 28 | c.142 others(47): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168096911 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218a0001c0001t0001g0237 | 2 | 284 | 0.0070 | 28 | c.18+ others(43): 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(21): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 284 | 0.0035 | 28 | c.18+ others(43): 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(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01069.hp2 others(62): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0054a0001c0001t0001g0055others(61): Show | 65 | 284 | 0.2289 | 28 | c.18+ others(43): 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(21): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0113 | 1 | 284 | 0.0035 | 28 | c.18+ others(43): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168096926 | A | ATGTATGT others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260a0001c0001t0001g0261a0001c0001t0001g0262others(2): Show | 5 | 284 | 0.0176 | 28 | c.18+ others(43): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168156037 | T | TTATATTA others(21): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 | 1 | 284 | 0.0035 | 28 | c.196 others(45): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168182318 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0270 | 1 | 284 | 0.0035 | 28 | c.783 others(43): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA11_chr10_80145889_80210537 | 80188511 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0041 | 1 | 386 | 0.0026 | 28 | c.-57 others(47): Show |
ANXA11 | ENSG00000122359.18 | transcript | ENST00000422982.8 | protein_coding | 1/15 | chr10 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60398993 | C | CGAGAGAG others(21): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00738.hp1 HG02004.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0259a0001c0001t0001g0266others(3): Show | 6 | 334 | 0.0180 | 28 | c.-10 others(39): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1008 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60399021 | A | AGAGAGAG others(21): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 NA18992.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0078a0001c0001t0001g0092others(2): Show | 5 | 334 | 0.0150 | 28 | c.-10 others(39): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1036 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60399021 | A | AGAGAGAG others(21): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01167.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0062others(22): Show | 25 | 334 | 0.0749 | 28 | c.-10 others(39): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1036 | chr15 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69775961 | T | TTTTATTT others(21): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 346 | 0.0029 | 28 | c.-46 others(45): 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(21): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03239.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0115a0001c0003t0001g0114 | 2 | 408 | 0.0049 | 28 | c.19- others(41): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517214 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 NA19090.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0238a0002c0004t0001g0219 | 2 | 306 | 0.0065 | 28 | c.160 others(47): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517262 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03225.hp2 HG03490.hp1 others(1): Show |
a0001a0013 | a0001c0001a0001c0018a0013c0024 | a0001c0001t0001a0001c0018t0001a0013c0024t0001 | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0018t0001g0021others(1): Show | 4 | 306 | 0.0131 | 28 | c.160 others(47): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36678600 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0233 | 1 | 306 | 0.0033 | 28 | c.224 others(45): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94728239 | G | GCGCGCGC others(21): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 182 | 0.0055 | 28 | c.-13 others(47): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95069478 | T | TAGTATGG others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02723.hp2 others(8): Show |
a0001a0002a0007 | a0001c0001a0002c0008a0007c0006 | a0001c0001t0001a0001c0001t0003a0002c0008t0003others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0120a0001c0001t0003g0060others(8): Show | 11 | 182 | 0.0604 | 28 | c.223 others(47): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 370 | 0.0027 | 28 | c.317 others(45): 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(21): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 370 | 0.0027 | 28 | c.317 others(45): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0261 | 1 | 370 | 0.0027 | 28 | c.317 others(45): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16215209 | G | GGGGGGGG others(21): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0244 | 1 | 308 | 0.0033 | 28 | c.546 others(45): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 NA18981.hp2 NA18997.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0009a0001c0002t0002g0132a0001c0002t0002g0264others(1): Show | 4 | 394 | 0.0102 | 28 | c.*25 others(39): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585276 | G | GAAGAAAG others(21): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0241 | 1 | 394 | 0.0025 | 28 | c.43- others(43): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585278 | A | AGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 394 | 0.0025 | 28 | c.43- others(43): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585282 | A | AGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 394 | 0.0025 | 28 | c.43- others(43): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585282 | A | AGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0076 | 3 | 394 | 0.0076 | 28 | c.43- others(43): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19011.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0002 | a0001c0002t0002g0258a0001c0004t0002g0192 | 2 | 268 | 0.0075 | 28 | c.67+ others(43): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP3B1_chr5_77997326_78299698 | 78193770 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18995.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0002g0026a0001c0001t0002g0030 | 3 | 226 | 0.0133 | 28 | c.787 others(47): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78273012 | C | CATACATA others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0122others(29): Show | 32 | 226 | 0.1416 | 28 | c.129 others(45): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2104518 | G | GCCAAGAC others(21): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0207 | 1 | 406 | 0.0025 | 28 | c.355 others(47): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50964955 | C | CCCCCCCC others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0018 | 1 | 392 | 0.0026 | 28 | c.185 others(47): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31096670 | C | CATATATA others(21): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0201 | 1 | 346 | 0.0029 | 28 | c.*36 others(39): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 221 | chr14 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665255 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143a0001c0001t0003g0152 | 2 | 366 | 0.0055 | 28 | c.956 others(43): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69523477 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 210 | 0.0048 | 28 | c.-69 others(45): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69658278 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0137 | 1 | 210 | 0.0048 | 28 | c.-70 others(47): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar |