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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASH2L_chr8_38100529_38145080 | 38121333 | T | TTATTTAT others(1): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 |
3 | 63 | 0.0476 | 8 | c.116 others(25): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38142491 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(38): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0057 others(38): Show |
41 | 43 | 0.9535 | 8 | c.*34 others(19): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 2412 | chr8 | TogoVar | |||||||
ASIC1_chr12_50052596_50088611 | 50069256 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01515.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0040 others(8): Show |
14 | 163 | 0.0859 | 8 | c.559 others(25): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50074860 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18943.hp1 NA18975.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0155 others(1): Show |
6 | 31 | 0.1935 | 8 | c.559 others(25): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33082701 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG01192.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(8): Show | a0001c0001t0004g0042 a0001c0001t0007g0237 a0001c0001t0007g0239 others(11): Show |
14 | 64 | 0.2188 | 8 | c.987 others(25): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33141078 | C | CTAGGGGC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0032others(3): Show | a0001c0001t0004g0042 a0001c0002t0002g0100 a0001c0002t0002g0139 others(4): Show |
7 | 238 | 0.0294 | 8 | c.709 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33164576 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0133 a0001c0002t0005g0096 |
2 | 71 | 0.0282 | 8 | c.709 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33269613 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01074.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(18): Show | a0001c0001t0003g0026 a0001c0001t0003g0065 a0001c0001t0003g0067 others(33): Show |
36 | 140 | 0.2571 | 8 | c.708 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33269751 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0001t0004g0070 a0001c0002t0002g0095 a0001c0002t0002g0099 others(6): Show |
9 | 82 | 0.1098 | 8 | c.708 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33282479 | G | GTGTGTGC others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01358.hp2 HG01515.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002a0002c0003t0005others(2): Show | a0002c0003t0001g0181 a0002c0003t0002g0213 a0002c0003t0005g0182 others(3): Show |
6 | 66 | 0.0909 | 8 | c.708 others(25): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33288715 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0018 | a0001c0001t0004g0078 a0002c0003t0018g0212 |
2 | 41 | 0.0488 | 8 | c.708 others(25): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33297823 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG02109.hp2 HG02723.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0046 a0001c0001t0003g0065 a0001c0001t0003g0067 others(7): Show |
10 | 83 | 0.1205 | 8 | c.-57 others(19): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 4529 | chr17 | TogoVar | |||||||
ASIC4_chr2_219509482_219543772 | 219534764 | G | GCCATCCA others(1): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03516.hp1 HG03579.hp1 |
a0002 | a0002c0007a0002c0032 | a0002c0007t0001a0002c0032t0006 | a0002c0007t0001g0038 a0002c0032t0006g0105 |
3 | 41 | 0.0732 | 8 | c.107 others(25): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66087243 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02615.hp2 NA18954.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0001g0072 others(1): Show |
5 | 67 | 0.0746 | 8 | c.603 others(21): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1405287 | G | GATGGATG others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 HG06807.hp2 |
a0002a0005a0016 | a0002c0013a0005c0024a0016c0032 | a0002c0013t0001a0005c0024t0001a0016c0032t0001 | a0002c0013t0001g0180 a0005c0024t0001g0178 a0016c0032t0001g0152 |
3 | 183 | 0.0164 | 8 | c.164 others(27): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1428646 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01361.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0044 a0002c0005t0001g0127 |
2 | 22 | 0.0909 | 8 | c.510 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1613176 | C | CTTCTTTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01517.hp2 HG01993.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0157 a0001c0001t0002g0200 others(2): Show |
5 | 95 | 0.0526 | 8 | c.-20 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1882 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1630871 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02683.hp2 HG02922.hp1 |
a0002a0003a0006 | a0002c0002a0003c0005a0006c0011 | a0002c0002t0001a0003c0005t0001a0006c0011t0002 | a0002c0002t0001g0020 a0003c0005t0001g0202 a0006c0011t0002g0076 |
3 | 64 | 0.0469 | 8 | c.562 others(23): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1635861 | T | TCAAACAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0117 a0001c0003t0001g0170 |
2 | 220 | 0.0091 | 8 | c.788 others(23): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97868519 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00639.hp2 others(72): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 others(36): Show |
75 | 314 | 0.2389 | 8 | c.249 others(23): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3487073 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(131): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(114): Show |
134 | 411 | 0.3260 | 8 | c.527 others(25): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50507046 | T | TCAACCAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 4 | 370 | 0.0108 | 8 | c.*46 others(19): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 4556 | chr19 | TogoVar | |||||||
ASPDH_chr19_50506603_50518913 | 50510051 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02970.hp1 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(3): Show |
8 | 90 | 0.0889 | 8 | c.*16 others(19): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 1551 | chr19 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26438494 | C | CATACATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02056.hp1 HG04184.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022 | a0001c0001t0006g0010 a0001c0001t0006g0048 a0001c0001t0006g0049 others(7): Show |
18 | 316 | 0.0570 | 8 | c.887 others(25): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438578 | T | TACACATA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01081.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(21): Show |
59 | 424 | 0.1392 | 8 | c.887 others(25): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438642 | T | TACACATA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0014 a0001c0001t0003g0034 a0001c0001t0003g0143 others(1): Show |
9 | 384 | 0.0234 | 8 | c.887 others(25): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26443634 | A | AAAAAAAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01167.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0023a0001c0002t0034 | a0001c0001t0018g0035 a0001c0001t0023g0016 a0001c0001t0023g0155 others(1): Show |
6 | 408 | 0.0147 | 8 | c.*43 others(17): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 4/4 | 432 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61550442 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0178 a0001c0001t0004g0219 a0001c0001t0004g0220 others(4): Show |
7 | 28 | 0.2500 | 8 | c.162 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 20/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61561128 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01099.hp2 HG01261.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0088 a0001c0001t0005g0076 a0001c0001t0005g0080 others(10): Show |
13 | 189 | 0.0688 | 8 | c.143 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61561132 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03579.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0031 a0001c0001t0001g0190 a0001c0001t0005g0181 |
3 | 57 | 0.0526 | 8 | c.143 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61562389 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp2 HG01358.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0007a0001c0006t0014 | a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0104 others(6): Show |
9 | 90 | 0.1000 | 8 | c.143 others(25): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362813 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03453.hp1 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0026others(1): Show | a0001c0001t0001g0047 a0001c0001t0013g0052 a0001c0001t0013g0065 others(3): Show |
6 | 31 | 0.1935 | 8 | c.491 others(25): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375428 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01168.hp2 HG01169.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0189 a0001c0001t0002g0228 a0001c0001t0002g0229 others(8): Show |
11 | 87 | 0.1264 | 8 | c.492 others(27): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130448422 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02071.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 others(2): Show |
5 | 79 | 0.0633 | 8 | c.-6+ others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130484799 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0198 others(1): Show |
4 | 102 | 0.0392 | 8 | c.838 others(25): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130495470 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02083.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0246 a0001c0001t0001g0302 |
3 | 234 | 0.0128 | 8 | c.112 others(25): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130495472 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02080.hp1 HG02145.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0001g0170 others(4): Show |
8 | 94 | 0.0851 | 8 | c.112 others(25): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130495500 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp2 HG02027.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0152 a0001c0001t0001g0258 others(1): Show |
4 | 369 | 0.0108 | 8 | c.112 others(25): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176908132 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03579.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0002 | a0001c0001t0002g0012 a0001c0002t0002g0032 a0001c0003t0002g0063 others(2): Show |
5 | 46 | 0.1087 | 8 | c.267 others(29): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176942866 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG01993.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0002t0001g0029 others(4): Show |
7 | 13 | 0.5385 | 8 | c.237 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177033123 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG03130.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0001others(3): Show | a0001c0001t0001g0026 a0001c0002t0002g0020 a0001c0002t0002g0070 others(5): Show |
8 | 33 | 0.2424 | 8 | c.472 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177114420 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0112 |
2 | 104 | 0.0192 | 8 | c.283 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177115655 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01070.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 others(22): Show |
25 | 52 | 0.4808 | 8 | c.283 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177121083 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02109.hp2 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0007a0001c0002t0001a0001c0002t0011others(3): Show | a0001c0001t0007g0097 a0001c0002t0001g0008 a0001c0002t0011g0009 others(4): Show |
7 | 66 | 0.1061 | 8 | c.283 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177168236 | A | AACATCTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(17): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 others(32): Show |
35 | 110 | 0.3182 | 8 | c.-35 others(19): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 3525 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116521809 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02922.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0007 a0001c0005t0005g0047 a0001c0005t0005g0076 others(1): Show |
4 | 9 | 0.4444 | 8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565351 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | NA18906.hp1 NA21309.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0006a0002c0004t0006 | a0001c0003t0006g0017 a0002c0004t0006g0003 |
2 | 79 | 0.0253 | 8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565387 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG01258.hp2 HG04199.hp2 |
a0001a0006 | a0001c0002a0006c0020 | a0001c0002t0001a0006c0020t0001 | a0001c0002t0001g0067 a0006c0020t0001g0039 |
2 | 63 | 0.0317 | 8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565427 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18959.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0028 a0001c0002t0003g0021 |
2 | 27 | 0.0741 | 8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116578618 | A | ACGCGCGC others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18906.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0001 | a0001c0003t0001g0038 a0001c0012t0001g0098 |
2 | 94 | 0.0213 | 8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar |