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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSL_chrX_2929521_2969341 | 2941247 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(191): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(184): Show | 194 | 328 | 0.5915 | -10 | c.112 others(29): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 8/10 | chrX | TogoVar | ||||||
ARSL_chrX_2929521_2969341 | 2946322 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01169.hp2 NA19076.hp1 |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0001a0010c0015t0013 | a0001c0001t0001g0303a0010c0015t0013g0288 | 2 | 328 | 0.0061 | -10 | c.855 others(25): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 6/10 | chrX | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663089 | ATCATCTC others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02622.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0022 | 2 | 394 | 0.0051 | -10 | c.887 others(25): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART3_chr4_76069709_76117786 | 76102045 | GATTCTAG others(3): Show |
G | intron_variant | MODIFIER | HG03195.hp2 HG03209.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | 392 | 0.0102 | -10 | c.937 others(27): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76113092 | TGAAGGCT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0219 | 1 | 392 | 0.0026 | -10 | c.*57 others(19): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 307 | chr4 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830119 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00738.hp1 others(44): Show |
a0003a0004 | a0003c0003a0004c0005a0004c0012 | a0003c0003t0003a0003c0003t0010a0003c0003t0029others(2): Show | a0003c0003t0003g0003a0003c0003t0003g0019a0003c0003t0003g0020others(38): Show | 47 | 380 | 0.1237 | -10 | c.854 others(25): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830536 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01081.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0020others(6): Show | a0001c0001t0002g0031a0001c0001t0002g0182a0001c0001t0002g0258others(13): Show | 21 | 380 | 0.0553 | -10 | c.854 others(27): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830649 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG02004.hp1 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0192a0001c0001t0001g0276others(3): Show | 6 | 380 | 0.0158 | -10 | c.854 others(27): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14844274 | ACATAACC others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 380 | 0.0026 | -10 | c.-11 others(21): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 749 | chr12 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984353 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 402 | 0.0050 | -10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230985240 | ACACAGCA others(3): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 402 | 0.0025 | -10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230986666 | CTATTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03831.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0202 | 2 | 402 | 0.0050 | -10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230986668 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG03710.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0003c0003t0001 | a0001c0001t0001g0029a0001c0001t0005g0197a0003c0003t0001g0118others(1): Show | 5 | 402 | 0.0124 | -10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARVCF_chr22_19964896_20021823 | 19965652 | TCAAAACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 374 | 0.0027 | -10 | c.*50 others(21): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 4243 | chr22 | TogoVar | ||||||
ARVCF_chr22_19964896_20021823 | 20000499 | GCTCCCAC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(106): Show |
a0001a0002a0004others(7): Show | a0001c0004a0002c0002a0002c0032others(12): Show | a0001c0004t0004a0001c0004t0008a0001c0004t0009others(20): Show | a0001c0004t0004g0017a0001c0004t0004g0031a0001c0004t0004g0032others(69): Show | 109 | 374 | 0.2914 | -10 | c.-18 others(27): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 2/19 | chr22 | TogoVar | ||||||
ARVCF_chr22_19964896_20021823 | 20002803 | ATTGATTT others(3): Show |
A | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 374 | 0.0027 | -10 | c.-19 others(27): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 2/19 | chr22 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67604198 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0012 | a0012c0011 | a0012c0011t0019 | a0012c0011t0019g0126 | 1 | 193 | 0.0052 | -10 | c.161 others(31): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67728574 | AATATATA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 NA20905.hp1 |
a0013a0025 | a0013c0064a0025c0049 | a0013c0064t0057a0025c0049t0052 | a0013c0064t0057g0053a0025c0049t0052g0009 | 2 | 193 | 0.0104 | -10 | c.*47 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4765 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
AS3MT_chr10_102864470_102906899 | 102871727 | CAAACAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(120): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(113): Show | 123 | 362 | 0.3398 | -10 | c.171 others(25): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG01257.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010 | a0001c0001t0001g0012a0001c0001t0001g0197a0001c0001t0001g0214others(11): Show | 15 | 362 | 0.0414 | -10 | c.886 others(27): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102888873 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0059 | 1 | 362 | 0.0028 | -10 | c.886 others(27): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH1_chr8_18050992_18089107 | 18065882 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0073 | 1 | 420 | 0.0024 | -10 | c.382 others(27): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754891 | GGTGTGTG others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG02040.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019a0001c0001t0026others(2): Show | a0001c0001t0008g0002a0001c0001t0008g0116a0001c0001t0008g0126others(7): Show | 17 | 414 | 0.0411 | -10 | c.*18 others(19): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 188 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2B_chr10_50734936_50764255 | 50754928 | GTGTGTGT others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(122): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0023others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(40): Show | 125 | 414 | 0.3019 | -10 | c.*19 others(19): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 193 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2_chr10_50179861_50256516 | 50187112 | TCTCTCTC others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0010 | a0001c0010t0069 | a0001c0010t0069g0200 | 1 | 408 | 0.0025 | -10 | c.*19 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 193 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187114 | TCTCTCAC others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0005 | a0001c0005t0116 | a0001c0005t0116g0213 | 1 | 408 | 0.0025 | -10 | c.*19 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 191 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187116 | TCTCACAC others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02132.hp1 NA19004.hp1 NA19007.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0001a0001c0004t0012g0299 | 8 | 408 | 0.0196 | -10 | c.*18 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 189 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50206537 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0006 | a0002c0006t0106 | a0002c0006t0106g0058 | 1 | 408 | 0.0025 | -10 | c.141 others(27): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 12/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130060075 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(8): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0001others(1): Show | a0002c0002t0001g0160a0002c0002t0002g0161a0002c0003t0001g0019others(8): Show | 11 | 308 | 0.0357 | -10 | c.319 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 28/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130064893 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0002g0054a0002c0002t0001g0014a0002c0002t0001g0160others(10): Show | 13 | 308 | 0.0422 | -10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070822 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0263 | 1 | 308 | 0.0033 | -10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070874 | AGGGAGAG others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02723.hp1 HG03195.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0012a0004c0012t0027 | a0001c0001t0012g0295a0001c0001t0012g0296a0001c0001t0012g0298others(1): Show | 4 | 308 | 0.0130 | -10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130074440 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0256 | 2 | 308 | 0.0065 | -10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130082714 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0245a0001c0005t0001g0166others(6): Show | 9 | 308 | 0.0292 | -10 | c.257 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130121784 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0003 | 1 | 308 | 0.0033 | -10 | c.160 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 18/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130215975 | AAAAGGAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(110): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0034others(110): Show | 113 | 308 | 0.3669 | -10 | c.260 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130230629 | AATCTGTT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 NA18951.hp1 NA18955.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0266a0002c0002t0001g0267a0002c0002t0001g0268others(3): Show | 6 | 308 | 0.0195 | -10 | c.259 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256738 | CTTATATA others(3): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG02004.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0002a0001c0001t0021a0001c0007t0007others(1): Show | a0001c0001t0002g0277a0001c0001t0021g0263a0001c0007t0007g0001others(5): Show | 8 | 308 | 0.0260 | -10 | c.187 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256739 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01361.hp1 HG03490.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0137a0002c0002t0003g0055a0002c0002t0003g0065others(4): Show | 7 | 308 | 0.0227 | -10 | c.187 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130262414 | AAAAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03453.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001a0001c0007t0007 | a0001c0001t0001g0256a0001c0007t0001g0037a0001c0007t0007g0001 | 3 | 308 | 0.0097 | -10 | c.187 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130262416 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG02723.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0022 | a0001c0004t0002g0182a0002c0002t0022g0242 | 2 | 308 | 0.0065 | -10 | c.187 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130268490 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 308 | 0.0033 | -10 | c.187 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130276728 | ACTCTCTC others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 308 | 0.0033 | -10 | c.187 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(83): Show | 86 | 308 | 0.2792 | -10 | c.187 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130300145 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01256.hp1 NA18955.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0010 | a0002c0002t0001g0266a0002c0002t0001g0268a0002c0002t0001g0269others(1): Show | 4 | 308 | 0.0130 | -10 | c.186 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130300147 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA19087.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0267a0002c0002t0002g0270 | 2 | 308 | 0.0065 | -10 | c.186 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130300151 | CACAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 308 | 0.0033 | -10 | c.186 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130373109 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp1 NA18994.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0010 | a0001c0001t0001g0196a0002c0002t0010g0050 | 2 | 308 | 0.0065 | -10 | c.60- others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130420235 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01943.hp1 HG04199.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003 | a0001c0001t0001g0053a0002c0002t0001g0104a0002c0002t0003g0113 | 3 | 308 | 0.0097 | -10 | c.-27 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254208 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(6): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0008 | a0001c0003t0006a0002c0001t0001a0002c0008t0006 | a0001c0003t0006g0006a0001c0003t0006g0064a0001c0003t0006g0065others(6): Show | 9 | 210 | 0.0429 | -10 | c.127 others(29): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |