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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMT_chrX_1610059_1648081 | 1644219 | T | TTTATTA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0056a0001c0001t0001g0058others(38): Show | 41 | 223 | 0.1839 | 6 | c.*12 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97868519 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(45): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0024others(17): Show | 48 | 436 | 0.1101 | 6 | c.249 others(21): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97868533 | G | GTGTGTA | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0006a0001c0008t0001 | a0001c0001t0006g0044a0001c0001t0006g0045a0001c0001t0006g0096others(2): Show | 7 | 436 | 0.0161 | 6 | c.249 others(21): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3473866 | C | CTGGAAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00735.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0193a0001c0001t0002g0188a0001c0001t0002g0189others(30): Show | 42 | 450 | 0.0933 | 6 | c.-22 others(17): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 2130 | chr17 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3500511 | T | TTTTTTG | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0027a0001c0001t0011g0140a0001c0001t0011g0213others(3): Show | 6 | 450 | 0.0133 | 6 | c.*14 others(17): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 6/6 | 1429 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
ASPDH_chr19_50506603_50518913 | 50508698 | C | CGTGTGT | downstream_gene_variant | MODIFIER | HG01243.hp1 NA18992.hp2 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0002c0002t0001g0002 | 3 | 372 | 0.0081 | 6 | c.*30 others(17): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438496 | C | CATATAT | intron_variant | MODIFIER | HG01993.hp2 HG03492.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 4 | 428 | 0.0094 | 6 | c.887 others(23): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438570 | T | TATATAC | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0050a0001c0001t0003g0154a0001c0001t0013g0050 | 3 | 428 | 0.0070 | 6 | c.887 others(23): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61550442 | T | TACACAC | intron_variant | MODIFIER | NA19004.hp2 NA19006.hp1 NA19068.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0006a0006c0010t0006 | a0001c0001t0006g0101a0001c0001t0006g0120a0006c0010t0006g0081 | 3 | 258 | 0.0116 | 6 | c.162 others(25): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 20/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61562389 | C | CTCTGTG | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00741.hp2 others(24): Show |
a0001a0006 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0178a0001c0001t0001g0193a0001c0001t0004g0219others(24): Show | 27 | 258 | 0.1047 | 6 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61711080 | A | AAATAAT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp1 others(194): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(193): Show | 197 | 258 | 0.7636 | 6 | c.103 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPRV1_chr2_69955089_69966631 | 69956451 | G | GGAAGAA | downstream_gene_variant | MODIFIER | HG02132.hp1 HG02602.hp2 HG02735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 8 | 464 | 0.0172 | 6 | c.*42 others(17): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 3637 | chr2 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 81975032 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0002 | a0001c0003t0001g0166a0001c0008t0002g0009a0001c0008t0002g0211others(1): Show | 6 | 366 | 0.0164 | 6 | c.-26 others(17): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 2596 | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82002554 | C | CTATTTT | intron_variant | MODIFIER | HG02273.hp2 HG02572.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0015a0001c0001t0001g0070a0001c0001t0001g0087others(1): Show | 5 | 366 | 0.0137 | 6 | c.933 others(23): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62338932 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(196): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(194): Show | 199 | 370 | 0.5378 | 6 | c.190 others(21): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62362813 | T | TACACAC | intron_variant | MODIFIER | HG00423.hp2 HG02647.hp2 HG02809.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0057a0001c0001t0005g0355a0001c0001t0007g0317others(4): Show | 7 | 370 | 0.0189 | 6 | c.491 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62366531 | C | CTTCCCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(102): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(101): Show | 105 | 370 | 0.2838 | 6 | c.491 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375428 | T | TTATATA | intron_variant | MODIFIER | HG00099.hp1 HG01256.hp1 HG01258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0094a0001c0001t0002g0188a0001c0001t0002g0226others(8): Show | 11 | 370 | 0.0297 | 6 | c.492 others(25): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62384035 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(72): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0015others(7): Show | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0007others(72): Show | 75 | 370 | 0.2027 | 6 | c.492 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130448415 | T | TGTGCGC | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0318a0001c0001t0001g0319a0001c0001t0001g0320others(3): Show | 6 | 374 | 0.0160 | 6 | c.-6+ others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130448422 | G | GCGCGCA | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00741.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0315others(20): Show | 27 | 374 | 0.0722 | 6 | c.-6+ others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130495444 | C | CATATAT | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0207a0001c0001t0001g0208 | 3 | 374 | 0.0080 | 6 | c.112 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130495470 | T | TACACAC | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0029a0001c0001t0001g0088others(6): Show | 9 | 374 | 0.0241 | 6 | c.112 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130495472 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(89): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0011others(86): Show | 92 | 374 | 0.2460 | 6 | c.112 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASTN1_chr1_176856067_177169712 | 176866653 | A | AAATAAT | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01346.hp1 others(16): Show |
a0001a0003 | a0001c0002a0001c0005a0001c0009others(2): Show | a0001c0002t0014a0001c0005t0004a0001c0005t0005others(5): Show | a0001c0002t0014g0004a0001c0005t0004g0072a0001c0005t0004g0076others(16): Show | 19 | 112 | 0.1696 | 6 | c.364 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 22/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176897274 | C | CAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0005a0001c0009a0001c0012 | a0001c0005t0004a0001c0005t0005a0001c0009t0004others(1): Show | a0001c0005t0004g0077a0001c0005t0005g0059a0001c0005t0005g0102others(2): Show | 5 | 112 | 0.0446 | 6 | c.267 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942820 | G | GTGTATA | intron_variant | MODIFIER | HG02922.hp1 NA18974.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0002t0020a0001c0006t0002 | a0001c0001t0002g0051a0001c0002t0020g0007a0001c0006t0002g0044 | 3 | 112 | 0.0268 | 6 | c.237 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942866 | A | ATATATT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0007g0099 | 3 | 112 | 0.0268 | 6 | c.237 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176970731 | G | GGTGTGT | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0002a0001c0002t0020a0001c0003t0001others(5): Show | a0001c0002t0002g0013a0001c0002t0002g0032a0001c0002t0020g0007others(12): Show | 15 | 112 | 0.1339 | 6 | c.152 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176985845 | T | TACACAC | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02615.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0007 | a0001c0002t0007a0001c0009t0004a0002c0007t0016 | a0001c0002t0007g0020a0001c0002t0007g0075a0001c0009t0004g0005others(1): Show | 4 | 112 | 0.0357 | 6 | c.152 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176996310 | C | CACACAG | intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 HG03225.hp1 |
a0001a0002 | a0001c0003a0002c0011 | a0001c0003t0002a0002c0011t0009 | a0001c0003t0002g0100a0002c0011t0009g0003a0002c0011t0009g0040 | 3 | 112 | 0.0268 | 6 | c.152 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177033123 | C | CTGTGTG | intron_variant | MODIFIER | HG00673.hp2 HG03239.hp2 HG03471.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0048a0001c0001t0008g0086a0001c0001t0010g0101others(5): Show | 8 | 112 | 0.0714 | 6 | c.472 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177044176 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp1 others(11): Show |
a0001a0002a0005 | a0001c0006a0002c0004a0005c0013 | a0001c0006t0001a0001c0006t0010a0002c0004t0003others(1): Show | a0001c0006t0001g0063a0001c0006t0010g0027a0002c0004t0003g0042others(11): Show | 14 | 112 | 0.1250 | 6 | c.472 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177114420 | C | CATATAT | intron_variant | MODIFIER | HG01192.hp1 HG02257.hp2 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0006others(1): Show | a0001c0002t0002a0001c0005t0004a0001c0006t0011others(1): Show | a0001c0002t0002g0108a0001c0005t0004g0076a0001c0005t0004g0077others(2): Show | 5 | 112 | 0.0446 | 6 | c.283 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177121083 | C | CATATAT | intron_variant | MODIFIER | HG03130.hp1 HG03579.hp2 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0002a0002c0007t0001 | a0001c0002t0002g0032a0002c0007t0001g0011 | 2 | 112 | 0.0179 | 6 | c.283 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177158655 | C | CGTGTGT | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0002a0001c0012t0004 | a0001c0003t0002g0100a0001c0012t0004g0010 | 2 | 112 | 0.0179 | 6 | c.283 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116446272 | T | TAGAGAG | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0012a0001c0003t0014 | a0001c0001t0005g0035a0001c0003t0012g0001a0001c0003t0014g0083 | 3 | 102 | 0.0294 | 6 | c.349 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116502141 | A | ATGTGTG | intron_variant | MODIFIER | HG02615.hp2 NA19066.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0004 | a0001c0001t0002g0051a0001c0009t0004g0032 | 2 | 102 | 0.0196 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116545664 | G | GACCAAT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0095others(19): Show | 22 | 102 | 0.2157 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116552014 | C | CACATAT | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp2 |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0073a0001c0008t0005g0081 | 2 | 102 | 0.0196 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116563376 | A | AAAAAAT | intron_variant | MODIFIER | HG00735.hp2 HG01256.hp2 HG01258.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0002g0040others(23): Show | 26 | 102 | 0.2549 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116565351 | T | TTCTCTC | intron_variant | MODIFIER | HG00099.hp1 HG01934.hp2 HG02109.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0015a0001c0002t0004others(2): Show | a0001c0001t0003g0063a0001c0001t0015g0045a0001c0002t0004g0029others(2): Show | 5 | 102 | 0.0490 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116578618 | A | ACGCGCG | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0016a0001c0003t0012others(2): Show | a0001c0001t0001g0028a0001c0001t0016g0075a0001c0003t0012g0001others(2): Show | 5 | 102 | 0.0490 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116578619 | C | CGTGTGT | intron_variant | MODIFIER | HG01496.hp2 HG02698.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0003 | a0001c0001t0015g0045a0001c0002t0003g0041a0001c0002t0003g0066 | 3 | 102 | 0.0294 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116595332 | C | CTGTTGT | intron_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0018a0001c0002t0001g0058a0001c0002t0002g0046others(4): Show | 7 | 102 | 0.0686 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116609322 | C | CTATATA | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0003t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0016g0075others(5): Show | 8 | 102 | 0.0784 | 6 | c.335 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116609326 | C | CTATATA | intron_variant | MODIFIER | HG02965.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0017 | a0001c0001t0001g0095a0001c0014t0017g0050 | 2 | 102 | 0.0196 | 6 | c.335 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116632128 | A | AAGAGAG | intron_variant | MODIFIER | HG01169.hp2 NA18959.hp1 NA19010.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0004a0001c0010t0001 | a0001c0002t0001g0042a0001c0002t0004g0092a0001c0010t0001g0102 | 3 | 102 | 0.0294 | 6 | c.307 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116642132 | C | CCAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp1 HG01243.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0099others(9): Show | 12 | 102 | 0.1177 | 6 | c.307 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116660168 | G | GCACACA | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00735.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(8): Show | a0001c0001t0002g0040a0001c0001t0006g0016a0001c0002t0002g0023others(11): Show | 14 | 102 | 0.1373 | 6 | c.280 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar |