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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 31350616 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | -26 | c.908 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31648617 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0005a0002c0020 | a0001c0001t0026a0002c0005t0001a0002c0020t0030 | a0001c0001t0026g0039a0002c0005t0001g0040a0002c0020t0030g0125 | 3 | 126 | 0.0238 | -26 | c.802 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32199780 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02572.hp1 others(1): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0008a0005c0057others(1): Show | a0001c0001t0002a0003c0008t0023a0005c0057t0001others(1): Show | a0001c0001t0002g0024a0003c0008t0023g0005a0005c0057t0001g0109others(1): Show | 4 | 126 | 0.0318 | -26 | c.643 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32252681 | TATAAATA others(19): Show |
T | intron_variant | MODIFIER | HG02738.hp1 HG04199.hp1 |
a0001a0012 | a0001c0002a0012c0048 | a0001c0002t0001a0012c0048t0001 | a0001c0002t0001g0025a0012c0048t0001g0057 | 2 | 126 | 0.0159 | -26 | c.629 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32335991 | CGTGTATA others(19): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02723.hp1 others(3): Show |
a0003a0005a0010others(1): Show | a0003c0003a0003c0008a0005c0057others(2): Show | a0003c0003t0027a0003c0008t0012a0003c0008t0023others(3): Show | a0003c0003t0027g0091a0003c0008t0012g0117a0003c0008t0023g0005others(3): Show | 6 | 126 | 0.0476 | -26 | c.592 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32335992 | GTGTATAT others(19): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 126 | 0.0079 | -26 | c.592 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452433 | GGGAAAGG others(19): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | -26 | c.360 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32683996 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 |
a0002a0017 | a0002c0026a0017c0027 | a0002c0026t0006a0017c0027t0001 | a0002c0026t0006g0111a0017c0027t0001g0124 | 2 | 126 | 0.0159 | -26 | c.960 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32859461 | TCACACAC others(19): Show |
T | intron_variant | MODIFIER | NA18952.hp1 NA18966.hp1 NA18988.hp1 others(2): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0004others(2): Show | a0001c0001t0002a0001c0002t0001a0004c0004t0001others(2): Show | a0001c0001t0002g0032a0001c0002t0001g0051a0004c0004t0001g0006others(2): Show | 5 | 126 | 0.0397 | -26 | c.94- others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02056.hp2 HG02074.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0003others(2): Show | a0001c0001t0001g0271a0001c0001t0004g0181a0001c0001t0004g0235others(5): Show | 8 | 306 | 0.0261 | -26 | c.823 others(43): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT3_chr9_971655_996732 | 987412 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02683.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0019 | a0001c0001t0001g0111a0005c0007t0019g0097 | 2 | 458 | 0.0044 | -26 | c.455 others(43): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTC2_chr19_41840042_41857333 | 41843052 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | NA19000.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0045 | 2 | 402 | 0.0050 | -26 | c.-20 others(37): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1989 | chr19 | TogoVar | ||||||
DMWD_chr19_45777947_45797845 | 45797752 | CAGCTACT others(19): Show |
C | upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0005 | 1 | 440 | 0.0023 | -26 | c.-50 others(37): Show |
DMWD | ENSG00000185800.12 | transcript | ENST00000270223.7 | protein_coding | 4908 | chr19 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119082016 | TATATACA others(19): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0025 | a0025c0023 | a0025c0023t0012 | a0025c0023t0012g0219 | 1 | 238 | 0.0042 | -26 | c.87+ others(43): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51566232 | GGTGTGTG others(19): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02717.hp2 others(4): Show |
a0005 | a0005c0009a0005c0015 | a0005c0009t0001a0005c0009t0004a0005c0015t0004 | a0005c0009t0001g0128a0005c0009t0004g0129a0005c0009t0004g0130others(4): Show | 7 | 346 | 0.0202 | -26 | c.286 others(43): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84176489 | TAGCCAGC others(19): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0297 | 1 | 456 | 0.0022 | -26 | c.206 others(43): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3394942 | CTTTTTTC others(19): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0044a0001c0003t0009g0045a0001c0003t0009g0059others(1): Show | 4 | 362 | 0.0111 | -26 | c.84- others(43): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21816903 | TGAAGAAG others(19): Show |
T | intron_variant | MODIFIER | NA19006.hp1 | a0064 | a0064c0040 | a0064c0040t0005 | a0064c0040t0005g0059 | 1 | 298 | 0.0034 | -26 | c.105 others(45): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 64/81 | chr7 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078768 | ATCTCTCT others(19): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0067 | a0067c0061 | a0067c0061t0001 | a0067c0061t0001g0024 | 1 | 240 | 0.0042 | -26 | c.242 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078843 | CCTCTCTC others(19): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG02257.hp1 others(4): Show |
a0007a0008a0015others(3): Show | a0007c0009a0008c0007a0015c0012others(3): Show | a0007c0009t0001a0008c0007t0001a0015c0012t0001others(3): Show | a0007c0009t0001g0005a0007c0009t0001g0006a0008c0007t0001g0003others(4): Show | 7 | 240 | 0.0292 | -26 | c.242 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78478206 | CCACCACC others(19): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0044 | 1 | 252 | 0.0040 | -26 | c.799 others(43): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(19): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0036 | a0036c0096 | a0036c0096t0003 | a0036c0096t0003g0308 | 1 | 316 | 0.0032 | -26 | c.190 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740601 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03041.hp2 |
a0001a0025a0028 | a0001c0006a0025c0042a0028c0041 | a0001c0006t0002a0025c0042t0008a0028c0041t0002 | a0001c0006t0002g0062a0025c0042t0008g0001a0028c0041t0002g0063 | 3 | 256 | 0.0117 | -26 | c.118 others(45): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195990809 | GTGTATAT others(19): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 256 | 0.0039 | -26 | c.135 others(45): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 12/64 | chr2 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11694840 | CCTTCCTT others(19): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01496.hp2 others(4): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0053a0002c0015others(4): Show | a0001c0001t0001a0001c0053t0003a0002c0015t0001others(4): Show | a0001c0001t0001g0028a0001c0053t0003g0021a0002c0015t0001g0149others(4): Show | 7 | 178 | 0.0393 | -26 | c.487 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11707990 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(9): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0003c0007others(9): Show | a0001c0001t0001a0001c0002t0001a0003c0007t0001others(9): Show | a0001c0001t0001g0139a0001c0002t0001g0142a0003c0007t0001g0115others(9): Show | 12 | 178 | 0.0674 | -26 | c.555 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11707996 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0064 | a0064c0092 | a0064c0092t0001 | a0064c0092t0001g0163 | 1 | 178 | 0.0056 | -26 | c.555 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11707998 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02965.hp1 HG03041.hp1 others(1): Show |
a0018a0027a0063 | a0018c0149a0018c0150a0027c0033others(1): Show | a0018c0149t0001a0018c0150t0002a0027c0033t0002others(1): Show | a0018c0149t0001g0011a0018c0150t0002g0012a0027c0033t0002g0103others(1): Show | 4 | 178 | 0.0225 | -26 | c.555 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11708000 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0070 | a0070c0137 | a0070c0137t0001 | a0070c0137t0001g0136 | 1 | 178 | 0.0056 | -26 | c.555 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11708004 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0128 | a0004c0128t0001 | a0004c0128t0001g0156 | 1 | 178 | 0.0056 | -26 | c.555 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11708006 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0127 | a0001c0127t0001 | a0001c0127t0001g0052 | 1 | 178 | 0.0056 | -26 | c.555 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11712070 | ATATATAA others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(98): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0002a0001c0003others(73): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(73): Show | a0001c0001t0001g0028a0001c0001t0001g0032a0001c0001t0001g0082others(98): Show | 101 | 178 | 0.5674 | -26 | c.555 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11812008 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0050 | a0050c0116 | a0050c0116t0001 | a0050c0116t0001g0147 | 1 | 178 | 0.0056 | -26 | c.870 others(45): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66892983 | AAGAAAGA others(19): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01168.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0086a0001c0001t0001g0152others(12): Show | 15 | 264 | 0.0568 | -26 | c.530 others(41): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
DNAJA1_chr9_33020273_33044907 | 33042557 | TTCTCAAC others(19): Show |
T | downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 444 | 0.0023 | -26 | c.*36 others(37): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 2651 | chr9 | TogoVar | ||||||
DNAJB12_chr10_72327863_72359919 | 72356829 | GATATATA others(19): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp1 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0007a0002c0005t0001 | a0001c0001t0007g0150a0002c0005t0001g0101 | 2 | 292 | 0.0069 | -26 | c.-19 others(37): Show |
DNAJB12 | ENSG00000148719.16 | transcript | ENST00000444643.8 | protein_coding | 1911 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819753 | AGGAAGGA others(19): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 384 | 0.0026 | -26 | c.157 others(43): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819780 | GGAAGGAA others(19): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 384 | 0.0026 | -26 | c.157 others(43): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
DNAJC16_chr1_15521848_15576733 | 15554620 | GTTGGTCT others(19): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0208 | 1 | 356 | 0.0028 | -26 | c.102 others(45): Show |
DNAJC16 | ENSG00000116138.13 | transcript | ENST00000375847.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAJC1_chr10_21751548_22008730 | 21813150 | GTCTCTCT others(19): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 164 | 0.0061 | -26 | c.979 others(43): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
DNAJC1_chr10_21751548_22008730 | 21883251 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG03579.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0021others(3): Show | 6 | 164 | 0.0366 | -26 | c.821 others(41): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 7/11 | chr10 | TogoVar | ||||||
DNAJC22_chr12_49341888_49358690 | 49343737 | ATTTTTTT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0030 | a0001c0001t0006g0006a0001c0001t0006g0036a0001c0001t0030g0006 | 10 | 362 | 0.0276 | -26 | c.-43 others(37): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 3150 | chr12 | TogoVar | ||||||
DNAJC22_chr12_49341888_49358690 | 49343756 | TTTTTTTT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01884.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0005g0010a0001c0001t0005g0012a0001c0001t0007g0003others(6): Show | 20 | 362 | 0.0553 | -26 | c.-43 others(37): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 3131 | chr12 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66020594 | CTGTGTGT others(19): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0003 | 1 | 254 | 0.0039 | -26 | c.-12 others(37): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 958 | chr8 | TogoVar | ||||||
DNAJC5G_chr2_27270433_27286499 | 27283764 | GCACACAC others(19): Show |
G | downstream_gene_variant | MODIFIER | HG06807.hp1 NA18906.hp1 NA19043.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031a0002c0002t0004g0056a0002c0002t0004g0075 | 4 | 340 | 0.0118 | -26 | c.*33 others(37): Show |
DNAJC5G | ENSG00000163793.13 | transcript | ENST00000296097.8 | protein_coding | 2266 | chr2 | TogoVar | ||||||
DNASE2B_chr1_84393484_84420018 | 84411425 | GGTGTGTG others(19): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG01169.hp1 others(38): Show |
a0001a0005a0008 | a0001c0001a0001c0004a0001c0010others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0049a0001c0001t0001g0147a0001c0004t0001g0004others(14): Show | 41 | 426 | 0.0962 | -26 | c.547 others(41): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DND1_chr5_140665794_140678576 | 140678375 | ATCCTATC others(19): Show |
A | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | -26 | c.-48 others(37): Show |
DND1 | ENSG00000256453.2 | transcript | ENST00000542735.2 | protein_coding | 4800 | chr5 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229388592 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0146 | 2 | 176 | 0.0114 | -26 | c.172 others(43): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229586525 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001a0003c0004t0002 | a0001c0001t0001g0005a0003c0004t0001g0143a0003c0004t0002g0059 | 3 | 176 | 0.0171 | -26 | c.681 others(41): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229668522 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG03927.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0130others(1): Show | 4 | 176 | 0.0227 | -26 | c.276 others(45): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar |