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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCA | disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00621.hp1 HG00735.hp1 others(16): Show |
a0004 | a0004c0004a0004c0032a0004c0033 | a0004c0004t0001a0004c0004t0003a0004c0004t0007others(10): Show | a0004c0004t0001g0042 a0004c0004t0001g0051 a0004c0004t0001g0054 others(16): Show |
19 | 43 | 0.4419 | 6 | c.234 others(13): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | T | TGGCGGC | disruptive_inframe_insertion | MODERATE | HG01106.hp1 HG01891.hp1 HG02257.hp2 others(7): Show |
a0001a0005a0006others(4): Show | a0001c0001a0005c0006a0005c0011others(5): Show | a0001c0001t0002a0005c0006t0010a0005c0006t0011others(7): Show | a0001c0001t0002g0100 a0005c0006t0010g0120 a0005c0006t0011g0004 others(7): Show |
10 | 90 | 0.1111 | 6 | c.141 others(15): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67604198 | A | ATGTGTG | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01515.hp1 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0005a0003c0002others(5): Show | a0001c0001t0001a0002c0005t0001a0003c0002t0009others(9): Show | a0001c0001t0001g0092 a0002c0005t0001g0018 a0003c0002t0009g0028 others(10): Show |
13 | 33 | 0.3939 | 6 | c.161 others(27): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67695738 | A | AACACAC | intron_variant | MODIFIER | HG01433.hp1 HG02698.hp1 |
a0003a0004 | a0003c0002a0004c0004 | a0003c0002t0012a0004c0004t0047 | a0003c0002t0012g0189 a0004c0004t0047g0053 |
2 | 82 | 0.0244 | 6 | c.188 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723312 | C | CTCTGTG | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01192.hp1 others(8): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(7): Show | a0001c0001t0001g0079 a0001c0001t0003g0080 a0001c0001t0019g0175 others(8): Show |
11 | 104 | 0.1058 | 6 | c.260 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67723312 | C | CTGTGTG | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 |
a0007a0008 | a0007c0008a0008c0007 | a0007c0008t0023a0008c0007t0039 | a0007c0008t0023g0127 a0008c0007t0039g0131 |
2 | 95 | 0.0211 | 6 | c.260 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67728574 | A | AATATAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01109.hp1 others(19): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0002c0010others(11): Show | a0001c0001t0003a0001c0001t0010a0001c0009t0010others(14): Show | a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0010g0166 others(19): Show |
22 | 47 | 0.4681 | 6 | c.*47 others(17): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4775 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0021a0001c0002t0004others(2): Show | a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0021g0029 others(6): Show |
9 | 37 | 0.2432 | 6 | c.171 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18065882 | T | TTGTGTG | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01106.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0002g0163 others(12): Show |
26 | 190 | 0.1368 | 6 | c.382 others(23): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50754156 | T | TATACAC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG02040.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0107 others(2): Show |
13 | 277 | 0.0469 | 6 | c.294 others(21): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754929 | T | TGAGAGA | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0018a0001c0001t0065 | a0001c0001t0011g0007 a0001c0001t0018g0072 a0001c0001t0065g0058 |
5 | 403 | 0.0124 | 6 | c.*19 others(15): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 191 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187084 | C | CCTCTCT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00741.hp1 others(12): Show |
a0001a0002a0006 | a0001c0004a0001c0005a0002c0001others(1): Show | a0001c0004t0006a0001c0005t0003a0002c0001t0003others(1): Show | a0001c0004t0006g0066 a0001c0004t0006g0081 a0001c0004t0006g0272 others(12): Show |
15 | 333 | 0.0450 | 6 | c.*22 others(15): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187118 | T | TCACACA | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01934.hp2 HG01952.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0008 a0002c0001t0001g0035 a0002c0001t0001g0190 others(1): Show |
5 | 286 | 0.0175 | 6 | c.*19 others(15): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 196 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187118 | T | TCTCTCA | 3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0005a0001c0005t0005 | a0001c0002t0005g0330 a0001c0005t0005g0002 a0001c0005t0005g0011 others(1): Show |
5 | 286 | 0.0175 | 6 | c.*19 others(15): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 196 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50206537 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(87): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0007others(8): Show | a0001c0002t0006a0001c0002t0008a0001c0002t0020others(24): Show | a0001c0002t0006g0087 a0001c0002t0008g0116 a0001c0002t0008g0117 others(78): Show |
90 | 138 | 0.6522 | 6 | c.141 others(23): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 12/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50212182 | A | AACACAC | intron_variant | MODIFIER | HG01106.hp1 HG02976.hp1 NA18977.hp1 |
a0001a0008 | a0001c0004a0001c0005a0008c0023 | a0001c0004t0006a0001c0005t0011a0008c0023t0037 | a0001c0004t0006g0281 a0001c0005t0011g0052 a0008c0023t0037g0343 |
3 | 196 | 0.0153 | 6 | c.122 others(23): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 10/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50239828 | A | ATTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG01361.hp2 HG02056.hp2 others(3): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0003a0003c0003t0002a0003c0003t0004others(2): Show | a0002c0001t0003g0132 a0003c0003t0002g0138 a0003c0003t0002g0139 others(3): Show |
6 | 86 | 0.0698 | 6 | c.510 others(23): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130064893 | A | ATGTGTG | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG03239.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0271 a0002c0002t0001g0066 others(6): Show |
9 | 114 | 0.0789 | 6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070850 | A | AGAGAGG | intron_variant | MODIFIER | HG02145.hp2 HG02300.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0003 | a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0227 others(3): Show |
6 | 305 | 0.0197 | 6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130071007 | G | GGAGAGA | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG02055.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0010 | a0001c0001t0001a0001c0001t0018a0001c0006t0005others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0018g0294 others(4): Show |
7 | 261 | 0.0268 | 6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130071011 | G | GGAGAGA | intron_variant | MODIFIER | HG00544.hp2 HG01168.hp2 HG01516.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(5): Show | a0001c0001t0001g0185 a0001c0001t0002g0027 a0001c0001t0002g0058 others(14): Show |
17 | 93 | 0.1828 | 6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130074486 | C | CACACAG | intron_variant | MODIFIER | HG00609.hp2 HG01515.hp2 HG02071.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0017a0002c0002t0003others(1): Show | a0001c0001t0002g0044 a0001c0001t0002g0175 a0001c0001t0002g0176 others(10): Show |
13 | 122 | 0.1066 | 6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130074486 | C | CACAGAG | intron_variant | MODIFIER | HG01168.hp1 HG02004.hp1 HG03490.hp1 |
a0001a0002 | a0001c0004a0002c0002a0002c0003 | a0001c0004t0002a0002c0002t0001a0002c0003t0001 | a0001c0004t0002g0181 a0002c0002t0001g0137 a0002c0003t0001g0017 |
3 | 112 | 0.0268 | 6 | c.270 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130082666 | G | GTTAATT | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0245 a0001c0005t0001g0166 others(6): Show |
9 | 306 | 0.0294 | 6 | c.257 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | C | CAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01255.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 a0002c0002t0001g0072 a0002c0002t0001g0077 others(6): Show |
9 | 39 | 0.2308 | 6 | c.240 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130101732 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0008a0001c0001t0018a0001c0001t0019others(7): Show | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(28): Show |
31 | 98 | 0.3163 | 6 | c.240 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130121784 | C | CAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG02040.hp2 HG02071.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0015 | a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0127 others(5): Show |
8 | 77 | 0.1039 | 6 | c.160 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 18/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130153332 | A | AATATAT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01192.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0031others(3): Show | a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0051 others(12): Show |
15 | 229 | 0.0655 | 6 | c.101 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 12/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130179967 | G | GAGAGAA | 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 | 6 | c.661 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 8/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130180062 | A | AGAAGGG | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp2 NA21309.hp2 |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0293 |
3 | 306 | 0.0098 | 6 | c.660 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 8/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130217537 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01891.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0008a0001c0001t0009a0001c0001t0018others(7): Show | a0001c0001t0008g0009 a0001c0001t0009g0005 a0001c0001t0009g0006 others(17): Show |
20 | 172 | 0.1163 | 6 | c.260 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130256738 | C | CATATAT | intron_variant | MODIFIER | HG01074.hp1 HG01975.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0158 a0001c0001t0002g0054 a0001c0001t0002g0187 others(1): Show |
4 | 247 | 0.0162 | 6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130256739 | T | TTATATA | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01192.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0053 a0001c0001t0001g0091 a0001c0001t0001g0102 others(9): Show |
12 | 77 | 0.1558 | 6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130256748 | T | TATATCC | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02155.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0002g0191 others(1): Show |
4 | 306 | 0.0131 | 6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130268490 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(10): Show | a0001c0001t0001g0102 a0001c0001t0001g0158 a0001c0001t0001g0163 others(52): Show |
55 | 95 | 0.5789 | 6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130276726 | A | ACTCTCT | intron_variant | MODIFIER | HG02572.hp2 HG02698.hp1 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0019a0001c0001t0021a0001c0008t0001others(1): Show | a0001c0001t0019g0286 a0001c0001t0021g0263 a0001c0008t0001g0244 others(1): Show |
4 | 285 | 0.0140 | 6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130284431 | A | ATTGTAG | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(10): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0001others(1): Show | a0002c0002t0001g0160 a0002c0002t0002g0161 a0002c0003t0001g0017 others(10): Show |
13 | 306 | 0.0425 | 6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130284842 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00558.hp1 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0052 a0001c0001t0001g0164 a0001c0001t0002g0044 others(51): Show |
54 | 153 | 0.3529 | 6 | c.187 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130300113 | T | TACACAC | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00741.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(5): Show | a0001c0001t0001g0056 a0001c0001t0001g0185 a0001c0001t0001g0201 others(24): Show |
27 | 203 | 0.1330 | 6 | c.186 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130300151 | C | CAGAGAG | intron_variant | MODIFIER | HG00099.hp2 HG01891.hp2 HG02300.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0002c0002t0001a0002c0002t0003 | a0001c0001t0018g0290 a0002c0002t0001g0066 a0002c0002t0001g0093 others(3): Show |
6 | 265 | 0.0226 | 6 | c.186 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130300184 | A | AGCGAGC | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02723.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0022 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0002c0002t0022g0242 |
3 | 252 | 0.0119 | 6 | c.186 others(25): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130403301 | T | TTTAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01074.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(15): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(53): Show |
56 | 276 | 0.2029 | 6 | c.-27 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130403301 | T | TTTTAAA | intron_variant | MODIFIER | HG01943.hp1 HG02280.hp2 HG02451.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0001t0032a0001c0013t0001others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0032g0297 others(8): Show |
11 | 231 | 0.0476 | 6 | c.-27 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130403301 | T | TTTTTAA | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG01361.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0245 a0001c0001t0001g0253 others(12): Show |
15 | 235 | 0.0638 | 6 | c.-27 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9254254 | T | TACACAC | intron_variant | MODIFIER | HG01074.hp2 HG02895.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0008a0001c0002t0009a0001c0003t0001others(1): Show | a0001c0002t0008g0206 a0001c0002t0009g0031 a0001c0003t0001g0165 others(1): Show |
4 | 108 | 0.0370 | 6 | c.127 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254527 | A | ATTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG02155.hp2 HG02257.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0008a0001c0003t0001a0001c0003t0004others(5): Show | a0001c0002t0008g0048 a0001c0003t0001g0046 a0001c0003t0004g0011 others(7): Show |
10 | 131 | 0.0763 | 6 | c.127 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9264190 | C | CAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(28): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0013others(10): Show | a0001c0002t0001g0024 a0001c0002t0001g0134 a0001c0002t0002g0133 others(28): Show |
31 | 205 | 0.1512 | 6 | c.127 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9264195 | A | AAATAAT | intron_variant | MODIFIER | HG01496.hp2 HG02717.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 others(1): Show |
4 | 132 | 0.0303 | 6 | c.127 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9264199 | A | AAAAAAT | intron_variant | MODIFIER | HG02723.hp1 HG03471.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0020 a0001c0003t0004g0043 a0001c0003t0004g0044 others(1): Show |
4 | 210 | 0.0190 | 6 | c.127 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9266147 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp2 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0042 a0002c0001t0001g0088 a0002c0001t0001g0089 others(4): Show |
7 | 81 | 0.0864 | 6 | c.127 others(25): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |