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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASIC2_chr17_33008087_33298295 | 33164576 | G | GCGCA | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01261.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0007a0001c0004t0001a0001c0005t0006others(1): Show | a0001c0001t0007g0239a0001c0004t0001g0157a0001c0004t0001g0158others(4): Show | 7 | 240 | 0.0292 | 4 | c.709 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33221868 | G | GTTTA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(155): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(40): Show | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0015others(154): Show | 158 | 240 | 0.6583 | 4 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33255028 | C | CTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01496.hp2 HG01515.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0003g0035a0001c0001t0003g0052a0001c0001t0004g0009others(8): Show | 11 | 240 | 0.0458 | 4 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33268341 | T | TCATC | intron_variant | MODIFIER | HG01346.hp1 HG02965.hp1 NA19088.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0005 | a0001c0001t0003g0015a0001c0002t0001g0114a0001c0002t0005g0108 | 3 | 240 | 0.0125 | 4 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33269009 | G | GTGCA | intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG01884.hp1 others(11): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(9): Show | a0001c0002t0001g0097a0001c0002t0002g0107a0001c0002t0002g0139others(11): Show | 14 | 240 | 0.0583 | 4 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33269613 | C | CCCTT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01069.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(7): Show | a0001c0001t0004g0019a0001c0001t0004g0071a0001c0001t0006g0064others(14): Show | 17 | 240 | 0.0708 | 4 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33269751 | T | TTTCC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0033others(75): Show | 78 | 240 | 0.3250 | 4 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33276224 | T | TAATA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(80): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0003g0020a0001c0001t0003g0035a0001c0001t0003g0036others(79): Show | 83 | 240 | 0.3458 | 4 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33282479 | G | GTGCT | intron_variant | MODIFIER | HG02129.hp2 HG02698.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0001c0004t0004a0001c0004t0005others(3): Show | a0001c0004t0001g0174a0001c0004t0004g0008a0001c0004t0005g0144others(4): Show | 7 | 240 | 0.0292 | 4 | c.708 others(21): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33283306 | G | GGGCT | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0024 | a0001c0001t0006g0050a0001c0001t0013g0051a0001c0001t0024g0085 | 3 | 240 | 0.0125 | 4 | c.708 others(21): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33288715 | G | GACAC | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01069.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0076a0001c0001t0003g0077a0001c0001t0003g0078others(19): Show | 22 | 240 | 0.0917 | 4 | c.708 others(21): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33297823 | A | AAAAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00735.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0018a0001c0001t0003g0030a0001c0001t0003g0041others(18): Show | 21 | 240 | 0.0875 | 4 | c.-57 others(15): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 4529 | chr17 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219534764 | G | GCCAT | intron_variant | MODIFIER | HG00597.hp1 HG01884.hp1 HG01975.hp2 others(29): Show |
a0001a0002a0004others(2): Show | a0001c0018a0002c0003a0002c0006others(8): Show | a0001c0018t0001a0002c0003t0001a0002c0006t0001others(8): Show | a0001c0018t0001g0149a0002c0003t0001g0057a0002c0006t0001g0015others(22): Show | 32 | 372 | 0.0860 | 4 | c.107 others(21): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIC5_chr4_155824729_155871277 | 155825297 | T | TACAC | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02630.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0002g0035a0001c0002t0001g0003others(5): Show | 13 | 334 | 0.0389 | 4 | c.*45 others(15): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 4431 | chr4 | TogoVar | ||||||
ASIC5_chr4_155824729_155871277 | 155829613 | C | CATAT | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0003 | a0001c0001t0001g0017a0001c0001t0001g0094a0001c0001t0001g0095others(6): Show | 9 | 334 | 0.0270 | 4 | c.*24 others(13): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 115 | chr4 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34246975 | G | GGTTT | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG01081.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(50): Show | 58 | 306 | 0.1895 | 4 | c.-11 others(21): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34253447 | T | TTTTA | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01243.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0080others(9): Show | 15 | 306 | 0.0490 | 4 | c.-10 others(21): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34267459 | C | CAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(49): Show | 56 | 306 | 0.1830 | 4 | c.223 others(21): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASL_chr7_66070819_66098576 | 66087243 | C | CGTGT | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00621.hp2 others(29): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0037others(16): Show | 32 | 316 | 0.1013 | 4 | c.603 others(17): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASMTL_chrX_1398139_1457909 | 1398596 | C | CCCCA | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0000 | a0000c0007 | a0000c0007t0001 | a0000c0007t0001g0126 | 1 | 185 | 0.0054 | 4 | c.*46 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4542 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1402737 | C | CTCCT | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0000 | a0000c0030 | a0000c0030t0001 | a0000c0030t0001g0026 | 1 | 185 | 0.0054 | 4 | c.*53 others(13): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 401 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1404397 | G | GTGGA | intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0002a0005 | a0002c0014a0005c0027 | a0002c0014t0001a0005c0027t0001 | a0002c0014t0001g0177a0005c0027t0001g0175 | 2 | 185 | 0.0108 | 4 | c.164 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1404690 | G | GTAGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(170): Show |
a0000a0001a0002others(19): Show | a0000c0007a0000c0030a0000c0039others(41): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(43): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(169): Show | 173 | 185 | 0.9351 | 4 | c.164 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1404942 | G | GATGC | intron_variant | MODIFIER | HG06807.hp2 | a0013 | a0013c0036 | a0013c0036t0001 | a0013c0036t0001g0147 | 1 | 185 | 0.0054 | 4 | c.164 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1405381 | T | TAGAC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00733.hp1 others(16): Show |
a0000a0001a0002others(2): Show | a0000c0007a0000c0030a0000c0039others(7): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(7): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(16): Show | 19 | 185 | 0.1027 | 4 | c.164 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1405653 | A | AGATG | intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0002a0005 | a0002c0014a0005c0027 | a0002c0014t0001a0005c0027t0001 | a0002c0014t0001g0177a0005c0027t0001g0175 | 2 | 185 | 0.0108 | 4 | c.164 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1406100 | A | ATGGG | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0009a0003c0005others(3): Show | a0001c0001t0001a0002c0009t0001a0003c0005t0001others(3): Show | a0001c0001t0001g0076a0002c0009t0001g0119a0003c0005t0001g0010others(12): Show | 15 | 185 | 0.0811 | 4 | c.164 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1406911 | G | GATGA | intron_variant | MODIFIER | HG06807.hp2 | a0013 | a0013c0036 | a0013c0036t0001 | a0013c0036t0001g0147 | 1 | 185 | 0.0054 | 4 | c.164 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1406939 | A | AGATG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00733.hp1 others(16): Show |
a0000a0001a0002others(2): Show | a0000c0007a0000c0030a0000c0039others(7): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(7): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(16): Show | 19 | 185 | 0.1027 | 4 | c.164 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1407452 | T | TGGGC | intron_variant | MODIFIER | HG06807.hp2 | a0013 | a0013c0036 | a0013c0036t0001 | a0013c0036t0001g0147 | 1 | 185 | 0.0054 | 4 | c.164 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1415471 | C | CTTTT | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0099 | 1 | 185 | 0.0054 | 4 | c.152 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1416346 | C | CACCA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(36): Show |
a0000a0001a0002others(5): Show | a0000c0007a0000c0030a0000c0039others(11): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(11): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(36): Show | 39 | 185 | 0.2108 | 4 | c.152 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1416357 | A | ACACG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(36): Show |
a0000a0001a0002others(5): Show | a0000c0007a0000c0030a0000c0039others(11): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(11): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(36): Show | 39 | 185 | 0.2108 | 4 | c.152 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1416390 | C | CACAG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(36): Show |
a0000a0001a0002others(5): Show | a0000c0007a0000c0030a0000c0039others(11): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(11): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(36): Show | 39 | 185 | 0.2108 | 4 | c.152 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1417411 | C | CACAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(162): Show |
a0000a0001a0002others(18): Show | a0000c0007a0000c0030a0000c0039others(37): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(39): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(161): Show | 165 | 185 | 0.8919 | 4 | c.152 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1417523 | G | GCACA | intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0130 | 1 | 185 | 0.0054 | 4 | c.152 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1417546 | G | GACAC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(44): Show |
a0000a0001a0002others(8): Show | a0000c0007a0000c0030a0000c0039others(16): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(16): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(44): Show | 47 | 185 | 0.2541 | 4 | c.152 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1424853 | T | TCCAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0013others(25): Show | a0001c0001t0001a0001c0008t0001a0001c0013t0001others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(122): Show | 126 | 185 | 0.6811 | 4 | c.106 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1424996 | A | ACCAT | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0111 | 1 | 185 | 0.0054 | 4 | c.106 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1427002 | A | AAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(124): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0013others(25): Show | a0001c0001t0001a0001c0008t0001a0001c0013t0001others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(123): Show | 127 | 185 | 0.6865 | 4 | c.897 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1428646 | C | CAAAT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00735.hp2 others(12): Show |
a0000a0002a0004others(1): Show | a0000c0039a0002c0003a0004c0006others(2): Show | a0000c0039t0001a0002c0003t0001a0004c0006t0001others(2): Show | a0000c0039t0001g0148a0002c0003t0001g0013a0004c0006t0001g0007others(12): Show | 15 | 185 | 0.0811 | 4 | c.510 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1428887 | C | CTTAA | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(16): Show |
a0000a0002a0010others(1): Show | a0000c0007a0000c0030a0002c0003others(3): Show | a0000c0007t0001a0000c0030t0001a0002c0003t0001others(3): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(16): Show | 19 | 185 | 0.1027 | 4 | c.510 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1431123 | A | AATTG | intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0027 | a0005c0027t0001 | a0005c0027t0001g0175 | 1 | 185 | 0.0054 | 4 | c.509 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1439846 | A | AAAAG | intron_variant | MODIFIER | NA18985.hp1 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0067 | 1 | 185 | 0.0054 | 4 | c.226 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 2/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1456286 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01981.hp2 NA18959.hp1 others(1): Show |
a0001a0003a0004 | a0001c0008a0003c0005a0004c0006 | a0001c0008t0001a0003c0005t0001a0004c0006t0001 | a0001c0008t0001g0094a0003c0005t0001g0139a0003c0005t0001g0146others(1): Show | 4 | 185 | 0.0216 | 4 | c.-34 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 3378 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1457673 | G | GTATC | upstream_gene_variant | MODIFIER | HG02896.hp2 HG02922.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0011a0001c0013a0002c0003others(4): Show | a0001c0011t0001a0001c0013t0001a0002c0003t0001others(4): Show | a0001c0011t0001g0014a0001c0013t0001g0164a0002c0003t0001g0176others(5): Show | 8 | 185 | 0.0432 | 4 | c.-48 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4765 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1457745 | G | GTATC | upstream_gene_variant | MODIFIER | HG02896.hp2 HG03195.hp1 |
a0001a0002 | a0001c0011a0002c0014 | a0001c0011t0001a0002c0014t0001 | a0001c0011t0001g0014a0002c0014t0001g0177 | 2 | 185 | 0.0108 | 4 | c.-49 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4837 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1457855 | C | CTATG | upstream_gene_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0071 | 1 | 185 | 0.0054 | 4 | c.-50 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4947 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1612954 | T | TTCTC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(81): Show | 85 | 223 | 0.3812 | 4 | c.-22 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2104 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613176 | C | CTTCT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(48): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0058others(48): Show | 51 | 223 | 0.2287 | 4 | c.-20 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1882 | chrX | TogoVar |