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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSG_chr17_68286495_68425814 | 68388944 | A | AAAAAT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(4): Show |
a0001a0008 | a0001c0003a0001c0005a0001c0009others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(1): Show | a0001c0003t0001g0138a0001c0005t0001g0166a0001c0005t0001g0167others(4): Show | 7 | 304 | 0.0230 | 5 | c.109 others(24): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSG_chr17_68286495_68425814 | 68417733 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(10): Show | a0001c0001t0001g0076a0001c0001t0001g0213a0001c0001t0001g0215others(20): Show | 23 | 304 | 0.0757 | 5 | c.130 others(24): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3004206 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199 | 3 | 248 | 0.0121 | 5 | c.-24 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2339 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3008514 | T | TTTCTC | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 248 | 0.0040 | 5 | c.93- others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3012568 | A | ATATAT | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0233 | 1 | 248 | 0.0040 | 5 | c.215 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012581 | A | ATATAT | intron_variant | MODIFIER | HG02622.hp2 HG02897.hp2 |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0012 | 2 | 248 | 0.0081 | 5 | c.215 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3020588 | C | CAAAAA | intron_variant | MODIFIER | HG03927.hp2 | a0006 | a0006c0018 | a0006c0018t0008 | a0006c0018t0008g0023 | 1 | 248 | 0.0040 | 5 | c.901 others(22): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3021707 | C | CTTTTT | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0094 | 1 | 248 | 0.0040 | 5 | c.902 others(22): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3021881 | T | TGTGTG | intron_variant | MODIFIER | HG00438.hp1 NA18940.hp1 NA18967.hp1 others(1): Show |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0001a0001c0001t0009a0010c0013t0011 | a0001c0001t0001g0099a0001c0001t0001g0134a0001c0001t0009g0027others(1): Show | 4 | 248 | 0.0161 | 5 | c.902 others(22): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036775 | T | TATAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(148): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0002a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(138): Show | 151 | 248 | 0.6089 | 5 | c.*33 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2665 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036775 | T | TATATA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG01168.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0015a0005c0008 | a0001c0001t0001a0001c0015t0004a0005c0008t0004 | a0001c0001t0001g0019a0001c0001t0001g0065a0001c0001t0001g0142others(3): Show | 6 | 248 | 0.0242 | 5 | c.*33 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2665 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036885 | A | AAATAT | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01109.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0005 | a0001c0001t0001g0197a0001c0001t0001g0198a0004c0005t0005g0012others(1): Show | 5 | 248 | 0.0202 | 5 | c.*35 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2775 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036938 | T | TATATA | downstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0217 | 1 | 248 | 0.0040 | 5 | c.*35 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2828 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036939 | A | ATATAT | downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 248 | 0.0040 | 5 | c.*35 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2829 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036986 | T | TATAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01168.hp1 others(2): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0002a0002c0006t0002 | a0002c0004t0002g0013a0002c0004t0002g0215a0002c0004t0002g0217others(1): Show | 5 | 248 | 0.0202 | 5 | c.*36 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2876 | chrX | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113905660 | A | ATTTTT | intron_variant | MODIFIER | HG00673.hp2 HG01358.hp1 HG01934.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0069a0001c0001t0001g0076a0001c0001t0001g0142others(7): Show | 10 | 350 | 0.0286 | 5 | c.399 others(22): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ARSL_chrX_2929521_2969341 | 2957220 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01891.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002a0002c0003t0009 | a0002c0003t0001g0209a0002c0003t0001g0210a0002c0003t0001g0212others(7): Show | 10 | 328 | 0.0305 | 5 | c.185 others(22): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 3/10 | chrX | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3647324 | A | AAAAAC | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01106.hp2 others(2): Show |
a0003a0004a0009 | a0003c0003a0004c0005a0009c0012 | a0003c0003t0001a0004c0005t0003a0009c0012t0003 | a0003c0003t0001g0066a0004c0005t0003g0067a0004c0005t0003g0068others(2): Show | 5 | 394 | 0.0127 | 5 | c.-53 others(22): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART1_chr11_3640128_3669416 | 3661490 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG04184.hp1 NA18944.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(1): Show | a0001c0001t0001g0294a0001c0001t0007g0079a0002c0002t0001g0206others(3): Show | 6 | 394 | 0.0152 | 5 | c.886 others(18): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART1_chr11_3640128_3669416 | 3663033 | A | ATCATC | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00642.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0034a0001c0001t0001g0088a0001c0001t0001g0108others(18): Show | 22 | 394 | 0.0558 | 5 | c.887 others(22): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART1_chr11_3640128_3669416 | 3663089 | A | ATCATC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(86): Show | 117 | 394 | 0.2970 | 5 | c.887 others(20): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART3_chr4_76069709_76117786 | 76079176 | T | TAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG02809.hp2 HG03041.hp2 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0078a0001c0001t0002g0118a0001c0001t0002g0119others(5): Show | 9 | 392 | 0.0230 | 5 | c.70- others(20): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ART3_chr4_76069709_76117786 | 76114071 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0003a0004c0004t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0127a0001c0001t0001g0138others(17): Show | 24 | 392 | 0.0612 | 5 | c.*15 others(16): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1286 | chr4 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984257 | G | GAAAGA | intron_variant | MODIFIER | HG00639.hp1 HG01981.hp1 NA18975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0082a0001c0001t0001g0083others(1): Show | 6 | 402 | 0.0149 | 5 | c.175 others(22): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARX_chrX_24998694_25020965 | 25001239 | T | TGGGGG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0015 | a0001c0001t0002g0002a0001c0001t0002g0016a0001c0001t0002g0025others(4): Show | 9 | 300 | 0.0300 | 5 | c.*34 others(16): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2454 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67551001 | G | GTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02630.hp2 others(13): Show |
a0008a0009a0011others(11): Show | a0008c0005a0009c0025a0011c0008others(11): Show | a0008c0005t0033a0009c0025t0004a0011c0008t0005others(13): Show | a0008c0005t0033g0148a0009c0025t0004g0150a0011c0008t0005g0158others(13): Show | 16 | 193 | 0.0829 | 5 | c.161 others(24): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67596476 | T | TTTGAC | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0013 | 1 | 193 | 0.0052 | 5 | c.161 others(26): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67695738 | A | ACACAC | intron_variant | MODIFIER | HG04115.hp1 | a0014 | a0014c0009 | a0014c0009t0001 | a0014c0009t0001g0020 | 1 | 193 | 0.0052 | 5 | c.188 others(24): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67728574 | A | ATATAT | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 | a0045 | a0045c0045 | a0045c0045t0049 | a0045c0045t0049g0137 | 1 | 193 | 0.0052 | 5 | c.*47 others(16): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4734 | chrX | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01169.hp1 HG01515.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(3): Show | a0001c0001t0001g0179a0001c0001t0008g0042a0001c0001t0008g0043others(10): Show | 13 | 362 | 0.0359 | 5 | c.171 others(20): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102871727 | C | CAAACA | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 NA18947.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0209a0001c0002t0004g0032a0001c0002t0004g0033others(1): Show | 4 | 362 | 0.0111 | 5 | c.171 others(20): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH1_chr8_18050992_18089107 | 18071244 | G | GAAATA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(100): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0013a0002c0002t0001g0032a0002c0002t0001g0136others(59): Show | 103 | 420 | 0.2452 | 5 | c.216 others(18): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18072505 | C | CAGAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(174): Show |
a0001a0005 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(123): Show | 177 | 420 | 0.4214 | 5 | c.126 others(22): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 2/13 | chr8 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50180666 | A | ATTATG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0005others(19): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(118): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(263): Show | 291 | 408 | 0.7132 | 5 | c.*66 others(16): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4194 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187084 | C | CTCTCT | 3_prime_UTR_variant | MODIFIER | NA18957.hp1 NA18991.hp1 NA18994.hp2 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0045a0003c0003t0070 | a0001c0002t0045g0096a0001c0002t0045g0107a0003c0003t0070g0127 | 3 | 408 | 0.0074 | 5 | c.*23 others(14): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50239828 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0001a0002c0022others(2): Show | a0001c0005t0011a0002c0001t0002a0002c0001t0004others(24): Show | a0001c0005t0011g0180a0002c0001t0002g0024a0002c0001t0002g0182others(75): Show | 87 | 408 | 0.2132 | 5 | c.510 others(22): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130071003 | G | GAGAGA | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0036a0001c0001t0001g0201a0001c0001t0001g0220others(1): Show | 4 | 308 | 0.0130 | 5 | c.270 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130080478 | C | CTCTTT | intron_variant | MODIFIER | HG00099.hp1 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0008a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0008g0011a0001c0001t0008g0017a0001c0001t0008g0021others(4): Show | 7 | 308 | 0.0227 | 5 | c.257 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130084808 | G | GGAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01243.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0034others(31): Show | 34 | 308 | 0.1104 | 5 | c.257 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130093686 | A | AAAAAG | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01255.hp2 others(39): Show |
a0001 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0039others(39): Show | 42 | 308 | 0.1364 | 5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130097126 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01243.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0002g0229a0002c0002t0001g0063a0002c0002t0001g0068others(12): Show | 15 | 308 | 0.0487 | 5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130121784 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00735.hp1 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0015others(2): Show | a0002c0002t0001g0061a0002c0002t0001g0103a0002c0002t0001g0137others(23): Show | 26 | 308 | 0.0844 | 5 | c.160 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 18/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130153493 | C | CAGAGT | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(1): Show | 4 | 308 | 0.0130 | 5 | c.101 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 12/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130215975 | A | AAAAGG | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01261.hp1 others(46): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0039others(46): Show | 49 | 308 | 0.1591 | 5 | c.260 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130268490 | A | ACACAC | intron_variant | MODIFIER | HG02056.hp1 HG04204.hp1 NA18966.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0226a0002c0002t0003g0131a0002c0002t0003g0249 | 3 | 308 | 0.0097 | 5 | c.187 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130362851 | C | CTAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(2): Show | a0001c0001t0001g0016a0001c0005t0001g0166a0001c0005t0005g0285others(5): Show | 8 | 308 | 0.0260 | 5 | c.60- others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254208 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 HG02523.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0002t0023a0001c0003t0004others(2): Show | a0001c0002t0002g0107a0001c0002t0002g0139a0001c0002t0002g0187others(4): Show | 7 | 210 | 0.0333 | 5 | c.127 others(24): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9254527 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp1 others(9): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0012others(2): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(4): Show | a0001c0003t0001g0029a0001c0003t0004g0200a0001c0003t0006g0006others(9): Show | 12 | 210 | 0.0571 | 5 | c.127 others(24): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9275082 | G | GTTTTT | intron_variant | MODIFIER | HG02895.hp1 HG02976.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(3): Show | a0001c0002t0001g0097a0001c0003t0001g0165a0001c0003t0004g0200others(3): Show | 6 | 210 | 0.0286 | 5 | c.127 others(22): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9275084 | T | TTTTTG | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp2 others(28): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0004t0005a0001c0012t0003others(4): Show | a0001c0002t0003g0026a0001c0002t0003g0050a0001c0002t0003g0052others(28): Show | 31 | 210 | 0.1476 | 5 | c.127 others(22): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |