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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSF_chrX_3036471_3117727 | 3036728 | AATATT | A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02809.hp1 NA20129.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0011 | a0001c0001t0001a0001c0010t0001a0005c0011t0001 | a0001c0001t0001g0035 a0001c0010t0001g0033 a0001c0010t0001g0040 others(1): Show |
4 | 179 | 0.0223 | -5 | c.-49 others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4742 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036776 | ATATTT | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0013 a0002c0003t0001g0017 |
2 | 191 | 0.0105 | -5 | c.-49 others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4694 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036957 | AAATAT | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 |
3 | 64 | 0.0469 | -5 | c.-47 others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4513 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3042420 | AAATTG | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0008 a0004c0006t0001g0009 |
2 | 191 | 0.0105 | -5 | c.-29 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 1/10 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3082960 | CTATCT | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02280.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0006 | a0001c0001t0001a0001c0010t0001a0004c0006t0001 | a0001c0001t0001g0035 a0001c0010t0001g0033 a0001c0010t0001g0040 others(3): Show |
6 | 191 | 0.0314 | -5 | c.407 others(22): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68350786 | AAAAAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00639.hp2 others(107): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0009others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(28): Show | a0001c0001t0001g0124 a0001c0001t0001g0297 a0001c0001t0002g0072 others(107): Show |
110 | 302 | 0.3642 | -5 | c.455 others(20): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68388922 | CAAAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02055.hp2 others(8): Show |
a0001a0002 | a0001c0009a0001c0013a0001c0020others(2): Show | a0001c0009t0001a0001c0013t0001a0001c0020t0001others(2): Show | a0001c0009t0001g0009 a0001c0009t0001g0036 a0001c0009t0001g0049 others(8): Show |
11 | 134 | 0.0821 | -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 | ATTTTT | A | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG02698.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0170 a0001c0001t0001g0284 others(6): Show |
9 | 47 | 0.1915 | -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 | 3023770 | ATATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01167.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0006 | a0001c0001t0002a0002c0004t0002a0002c0006t0002 | a0001c0001t0002g0089 a0002c0004t0002g0022 a0002c0004t0002g0192 others(4): Show |
8 | 246 | 0.0325 | -5 | c.902 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3029523 | GATTTT | G | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 HG02622.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0006a0003c0005t0005 | a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0166 others(4): Show |
8 | 246 | 0.0325 | -5 | c.132 others(22): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036728 | AATATT | A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02809.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 others(1): Show |
4 | 232 | 0.0172 | -5 | c.*33 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2618 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036957 | AAATAT | A | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0184 |
3 | 76 | 0.0395 | -5 | c.*35 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2847 | chrX | TogoVar | |||||||
ARSI_chr5_150291343_150307905 | 150299378 | ACTCGT | A | intron_variant | MODIFIER | HG00609.hp2 NA18747.hp2 NA18965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0009 a0001c0006t0001g0018 |
7 | 454 | 0.0154 | -5 | c.312 others(20): Show |
ARSI | ENSG00000183876.9 | transcript | ENST00000328668.8 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113901055 | CATATT | C | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0032a0001c0001t0040 | a0001c0001t0014g0143 a0001c0001t0014g0155 a0001c0001t0014g0156 others(3): Show |
6 | 348 | 0.0172 | -5 | c.*12 others(16): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 2/2 | 1214 | chr4 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113972302 | AAAAAC | A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01346.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0028others(1): Show | a0001c0001t0006g0028 a0001c0001t0006g0031 a0001c0001t0006g0033 others(16): Show |
19 | 348 | 0.0546 | -5 | c.398 others(22): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSK_chr5_95550101_95610102 | 95606302 | CTAAGT | C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG03654.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0002 | a0001c0001t0002g0035 a0001c0001t0002g0177 a0001c0001t0002g0178 others(4): Show |
7 | 334 | 0.0210 | -5 | c.*27 others(16): Show |
ARSK | ENSG00000164291.17 | transcript | ENST00000380009.9 | protein_coding | 1201 | chr5 | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2935667 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(181): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(171): Show |
184 | 326 | 0.5644 | -5 | c.141 others(22): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 10/10 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3640567 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(205): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(162): Show |
208 | 214 | 0.9720 | -5 | c.-46 others(16): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4560 | chr11 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3663089 | ATCATC | A | intron_variant | MODIFIER | HG00738.hp1 HG01258.hp1 HG02109.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0070 a0001c0001t0001g0093 others(8): Show |
13 | 192 | 0.0677 | -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 | 76100143 | CAACTT | C | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp1 HG03041.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(13): Show |
25 | 390 | 0.0641 | -5 | c.848 others(20): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART5_chr11_3633512_3646992 | 3640567 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(240): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0101 others(44): Show |
243 | 250 | 0.9720 | -5 | c.58- others(18): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ARVCF_chr22_19964896_20021823 | 20016693 | TGCGGC | T | 5_prime_UTR_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0028 a0001c0004t0008g0029 a0001c0004t0008g0089 others(1): Show |
6 | 372 | 0.0161 | -5 | c.-18 others(14): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 1/20 | 25900 | chr22 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTT | A | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp1 HG03130.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0181 a0001c0001t0001g0185 others(4): Show |
7 | 196 | 0.0357 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888868 | TATATA | T | intron_variant | MODIFIER | NA18941.hp1 NA19072.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0081 a0001c0001t0003g0095 a0001c0001t0010g0080 |
3 | 357 | 0.0084 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102888872 | TATATA | T | intron_variant | MODIFIER | HG00609.hp2 HG02622.hp1 HG02683.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0005g0103 a0001c0001t0005g0109 a0001c0001t0006g0171 others(3): Show |
6 | 360 | 0.0167 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102888874 | TATATA | T | intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0198 a0001c0001t0001g0300 a0001c0001t0016g0273 |
3 | 357 | 0.0084 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102888876 | TATATA | T | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0199 others(7): Show |
11 | 358 | 0.0307 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102888877 | ATATAT | A | intron_variant | MODIFIER | HG01978.hp1 HG02698.hp2 HG03239.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016 | a0001c0001t0001g0022 a0001c0001t0001g0257 a0001c0001t0001g0260 others(6): Show |
9 | 288 | 0.0313 | -5 | c.886 others(22): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18063308 | ATTAAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0204 a0001c0001t0001g0205 |
6 | 418 | 0.0144 | -5 | c.458 others(18): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 6/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18082903 | AATTTT | A | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG01109.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 others(17): Show |
25 | 418 | 0.0598 | -5 | c.78+ others(20): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18086288 | AAAATT | A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01099.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0194 a0001c0001t0001g0227 a0001c0001t0001g0228 others(19): Show |
27 | 418 | 0.0646 | -5 | c.-22 others(16): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 2182 | chr8 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50742562 | ATTTTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(133): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(46): Show |
136 | 412 | 0.3301 | -5 | c.-99 others(20): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50744429 | CTCATA | C | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02559.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028a0001c0001t0053others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0103 a0001c0001t0028g0059 others(5): Show |
15 | 412 | 0.0364 | -5 | c.-3- others(18): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50220836 | CAAAAA | C | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG02258.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0007a0001c0011others(3): Show | a0001c0004t0006a0001c0004t0014a0001c0007t0014others(6): Show | a0001c0004t0006g0332 a0001c0004t0014g0278 a0001c0004t0014g0279 others(12): Show |
15 | 21 | 0.7143 | -5 | c.894 others(22): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130093666 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0019 | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(3): Show |
6 | 152 | 0.0395 | -5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01167.hp2 others(7): Show |
a0001a0002 | a0001c0005a0001c0006a0002c0003 | a0001c0005t0001a0001c0005t0005a0001c0005t0007others(2): Show | a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0003 others(7): Show |
10 | 40 | 0.2500 | -5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130107514 | AAATGT | A | intron_variant | MODIFIER | HG01167.hp2 HG01496.hp2 HG01975.hp1 |
a0001a0004 | a0001c0001a0001c0005a0004c0012 | a0001c0001t0030a0001c0005t0007a0004c0012t0027 | a0001c0001t0030g0046 a0001c0005t0007g0003 a0004c0012t0027g0233 |
3 | 303 | 0.0099 | -5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130108757 | GTTTTT | G | intron_variant | MODIFIER | HG01978.hp1 HG02257.hp2 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0009t0001others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0281 others(8): Show |
11 | 52 | 0.2115 | -5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130200273 | ATAAAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0019 | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(3): Show |
6 | 306 | 0.0196 | -5 | c.406 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 5/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130215975 | AAAAGG | A | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG01255.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0167 a0001c0001t0001g0278 a0001c0001t0001g0280 others(20): Show |
23 | 116 | 0.1983 | -5 | c.260 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130216043 | GGAAAA | G | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(1): Show |
4 | 306 | 0.0131 | -5 | c.260 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130216061 | AAAAGG | A | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01169.hp1 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0013others(2): Show | a0002c0002t0001g0018 a0002c0002t0001g0066 a0002c0002t0001g0084 others(21): Show |
24 | 306 | 0.0784 | -5 | c.260 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262415 | AAAGAG | A | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01358.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(1): Show | a0001c0001t0001g0056 a0001c0001t0001g0158 a0001c0001t0002g0024 others(3): Show |
6 | 265 | 0.0226 | -5 | c.187 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262417 | AGAGAG | A | intron_variant | MODIFIER | HG01496.hp2 HG01975.hp2 NA18973.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0241 a0001c0001t0002g0054 a0001c0001t0007g0004 others(1): Show |
4 | 222 | 0.0180 | -5 | c.187 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGA | G | intron_variant | MODIFIER | HG01175.hp2 HG01256.hp1 HG01943.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0002c0003t0001a0002c0003t0010 | a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(3): Show |
6 | 52 | 0.1154 | -5 | c.187 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130363373 | AAAAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0002c0002t0001g0012 others(30): Show |
33 | 306 | 0.1078 | -5 | c.60- others(20): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130445972 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG02257.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 others(10): Show |
13 | 57 | 0.2281 | -5 | c.-25 others(16): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2299 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9348323 | TCAGCC | T | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0009a0001c0002t0019a0001c0013t0017 | a0001c0002t0009g0031 a0001c0002t0009g0208 a0001c0002t0019g0164 others(1): Show |
4 | 210 | 0.0190 | -5 | c.102 others(24): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 11/27 | chr2 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9395594 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00738.hp2 others(18): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0003t0004a0001c0012t0003others(2): Show | a0001c0002t0003g0027 a0001c0002t0003g0050 a0001c0002t0003g0052 others(18): Show |
21 | 75 | 0.2800 | -5 | c.268 others(24): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23464659 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(45): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0177 a0001c0001t0001g0178 others(43): Show |
48 | 71 | 0.6761 | -5 | c.130 others(22): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar |