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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAAS_chr12_53302460_53326610 | 53316764 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(49): Show | 85 | 330 | 0.2576 | -1 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53316764 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02083.hp2 HG02135.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0152 | 8 | 330 | 0.0242 | -12 | c.252 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53316919 | A | C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0022a0001c0001t0001g0057a0001c0001t0001g0058others(2): Show | 6 | 330 | 0.0182 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317047 | G | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317146 | C | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317150 | T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317250 | T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(171): Show | 308 | 330 | 0.9333 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317308 | A | G | intron_variant | MODIFIER | NA18951.hp1 NA18971.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0084 | 3 | 330 | 0.0091 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317450 | G | A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 330 | 0.0030 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317479 | C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 287 | 330 | 0.8697 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317489 | G | A | intron_variant | MODIFIER | HG02895.hp2 HG03130.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023a0001c0002t0001g0062 | 3 | 330 | 0.0091 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317512 | G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 287 | 330 | 0.8697 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317556 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(161): Show | 295 | 330 | 0.8939 | -1 | c.252 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317568 | AC | A | intron_variant | MODIFIER | HG00609.hp2 HG02129.hp1 NA18995.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0108 | 5 | 330 | 0.0152 | -1 | c.252 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317643 | G | A | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 330 | 0.0030 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317741 | C | CA | intron_variant | MODIFIER | HG02027.hp2 HG02083.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0128others(2): Show | 10 | 330 | 0.0303 | 1 | c.252 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318056 | T | C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 330 | 0.0030 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318103 | G | A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 330 | 0.0030 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318143 | G | A | intron_variant | MODIFIER | HG02165.hp2 NA18987.hp2 NA18992.hp2 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0001 | a0001c0001t0001g0068a0003c0009t0001g0188a0003c0009t0001g0189 | 3 | 330 | 0.0091 | 0 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318183 | G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 287 | 330 | 0.8697 | 0 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318186 | C | A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 330 | 0.0030 | 0 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318193 | T | C | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 330 | 0.0030 | 0 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | A | AGTGTGT | intron_variant | MODIFIER | HG01433.hp1 HG02735.hp1 HG02895.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0110a0001c0001t0001g0166a0001c0002t0001g0062 | 3 | 330 | 0.0091 | 6 | c.251 others(23): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(32): Show | 69 | 330 | 0.2091 | 8 | c.251 others(25): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(76): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0016others(33): Show | 79 | 330 | 0.2394 | 10 | c.251 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0027 | 6 | 330 | 0.0182 | 12 | c.251 others(29): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 330 | 0.0030 | 14 | c.251 others(31): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 330 | 0.0030 | 16 | c.251 others(33): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | AGTGTGTG others(19): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 2 | 330 | 0.0061 | -26 | c.251 others(43): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318227 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0022a0001c0001t0001g0057a0001c0001t0001g0058others(2): Show | 6 | 330 | 0.0182 | -18 | c.251 others(35): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318235 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 330 | 0.0030 | -10 | c.251 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318239 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 330 | 0.0030 | 14 | c.251 others(31): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318239 | TGTGTGC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | -6 | c.251 others(23): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318241 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 330 | 0.0030 | 10 | c.251 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318241 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 330 | 0.0030 | 12 | c.251 others(29): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318243 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(4): Show | 7 | 330 | 0.0212 | 8 | c.251 others(25): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318243 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18950.hp2 NA18959.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0009 | a0001c0001t0001a0001c0006t0001a0003c0009t0001 | a0001c0001t0001g0011a0001c0001t0001g0074a0001c0001t0001g0112others(4): Show | 10 | 330 | 0.0303 | 10 | c.251 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318243 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02896.hp2 NA18994.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0073others(1): Show | 4 | 330 | 0.0121 | 12 | c.251 others(29): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318245 | C | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(114): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(74): Show | 117 | 330 | 0.3546 | 0 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318245 | CGT | C | intron_variant | MODIFIER | HG02083.hp2 HG02135.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0043 | 7 | 330 | 0.0212 | -2 | c.251 others(19): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318245 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 330 | 0.0030 | -10 | c.251 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318247 | T | C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0041a0001c0001t0001g0135a0001c0005t0001g0176others(4): Show | 8 | 330 | 0.0242 | 0 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318247 | T | TGTGTGC | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00741.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0018a0001c0001t0001g0040a0001c0001t0001g0126others(5): Show | 12 | 330 | 0.0364 | 6 | c.251 others(23): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318247 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01258.hp2 HG01433.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0039a0001c0001t0001g0120others(5): Show | 16 | 330 | 0.0485 | 8 | c.251 others(25): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318247 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02572.hp2 HG03491.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0118others(3): Show | 9 | 330 | 0.0273 | 10 | c.251 others(27): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318247 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00673.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0047a0001c0001t0001g0117others(3): Show | 22 | 330 | 0.0667 | 12 | c.251 others(29): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318247 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0185 | 2 | 330 | 0.0061 | 14 | c.251 others(31): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318249 | T | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0136a0002c0004t0001g0044a0002c0004t0001g0156others(2): Show | 7 | 330 | 0.0212 | 0 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318249 | T | TGTGC | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0134a0001c0001t0001g0140others(4): Show | 10 | 330 | 0.0303 | 4 | c.251 others(21): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318249 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02257.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0131a0001c0001t0001g0132others(2): Show | 8 | 330 | 0.0242 | 8 | c.251 others(25): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar |