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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOCK7_chr1_62449726_62693386 | 62483209 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18965.hp2 NA18977.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0213 a0002c0003t0003g0004 a0002c0003t0003g0005 |
3 | 126 | 0.0238 | 25 | c.550 others(44): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 43/49 | chr1 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 277457 | G | GAGAGAAG others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0039 | a0039c0090 | a0039c0090t0001 | a0039c0090t0001g0120 | 1 | 75 | 0.0133 | 25 | c.156 others(42): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98791319 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0264 | 1 | 152 | 0.0066 | 25 | c.*33 others(36): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 2109 | chr13 | TogoVar | |||||||
DOCK9_chr13_98788429_98983064 | 98814938 | A | AATAACAT others(18): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 281 | 0.0036 | 25 | c.513 others(44): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 45/52 | chr13 | TogoVar | |||||||
DOCK9_chr13_98788429_98983064 | 98887144 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0189 | 1 | 319 | 0.0031 | 25 | c.204 others(42): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 18/52 | chr13 | TogoVar | |||||||
DOK3_chr5_177496904_177514826 | 177497008 | G | GGGGGAGG others(18): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01123.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0012 others(9): Show |
25 | 222 | 0.1126 | 25 | c.*69 others(36): Show |
DOK3 | ENSG00000146094.16 | transcript | ENST00000510898.7 | protein_coding | 4895 | chr5 | TogoVar | |||||||
DOK6_chr18_69395888_69854087 | 69851192 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01081.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0145 a0001c0001t0002g0076 others(5): Show |
8 | 63 | 0.1270 | 25 | c.*98 others(36): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 2106 | chr18 | TogoVar | |||||||
DONSON_chr21_33572551_33593684 | 33583200 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03453.hp2 HG03471.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0252 a0001c0001t0001g0253 others(3): Show |
7 | 46 | 0.1522 | 25 | c.964 others(40): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 5/9 | chr21 | TogoVar | |||||||
DOP1B_chr21_36151824_36299274 | 36201345 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 64 | 0.0156 | 25 | c.491 others(40): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89613182 | C | CACAACGA others(18): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 248 | 0.0040 | 25 | c.-64 others(34): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 459 | chr16 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89639100 | C | CCCCCACC others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(82): Show |
85 | 248 | 0.3427 | 25 | c.*87 others(34): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 668 | chr16 | TogoVar | |||||||
DPEP2_chr16_67982394_68004484 | 68001994 | G | GGAAGGAA others(18): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG01891.hp1 HG02622.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0129 a0001c0002t0001g0023 a0001c0002t0001g0072 others(6): Show |
17 | 354 | 0.0480 | 25 | c.-26 others(36): Show |
DPEP2 | ENSG00000167261.14 | transcript | ENST00000393847.6 | protein_coding | 2511 | chr16 | TogoVar | |||||||
DPEP3_chr16_67970663_67985499 | 67980836 | T | TATTTCAT others(18): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01433.hp2 HG01934.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
14 | 97 | 0.1443 | 25 | c.-45 others(34): Show |
DPEP3 | ENSG00000141096.6 | transcript | ENST00000268793.6 | protein_coding | 338 | chr16 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72756906 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18906.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0009a0001c0003t0004 | a0001c0002t0009g0076 a0001c0003t0004g0079 |
2 | 92 | 0.0217 | 25 | c.194 others(42): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72756906 | A | AGAAAGAA others(18): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0075 | a0001c0002t0075g0052 | 1 | 91 | 0.0110 | 25 | c.194 others(42): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72805068 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 232 | 0.0043 | 25 | c.33- others(42): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72838905 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18961.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0049 | a0001c0001t0001g0030 a0001c0001t0049g0203 |
2 | 220 | 0.0091 | 25 | c.32+ others(42): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72838905 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0094 | 1 | 219 | 0.0046 | 25 | c.32+ others(42): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72838906 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02056.hp2 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0057a0001c0002t0003others(3): Show | a0001c0001t0003g0224 a0001c0001t0057g0225 a0001c0002t0003g0034 others(3): Show |
6 | 167 | 0.0359 | 25 | c.32+ others(42): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72846078 | G | GTTTATTT others(18): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0098 | 1 | 35 | 0.0286 | 25 | c.32+ others(42): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0160 | 1 | 55 | 0.0182 | 25 | c.312 others(44): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 55 | 0.0182 | 25 | c.312 others(44): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 55 | 0.0182 | 25 | c.312 others(44): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0169 a0001c0001t0002g0002 |
2 | 56 | 0.0357 | 25 | c.312 others(44): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 55 | 0.0182 | 25 | c.312 others(44): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35542965 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA18963.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | 136 | 0.0147 | 25 | c.24- others(38): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137553641 | G | GGCGCCCT others(18): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 338 | 0.0030 | 25 | c.*15 others(36): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 802 | chr9 | TogoVar | |||||||
DPP10_chr2_114437641_115850780 | 114749548 | C | CTTTTATT others(18): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 | 1 | 12 | 0.0833 | 25 | c.60+ others(44): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP4_chr2_161987245_162079215 | 161987840 | T | TATATATA others(18): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 NA19058.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087 a0001c0001t0002g0215 a0001c0001t0002g0253 |
3 | 43 | 0.0698 | 25 | c.*54 others(36): Show |
DPP4 | ENSG00000197635.11 | transcript | ENST00000360534.8 | protein_coding | 4404 | chr2 | TogoVar | |||||||
DPT_chr1_168690468_168734206 | 168725215 | A | ATTCCTTT others(18): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02559.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0004g0139 others(2): Show |
5 | 128 | 0.0391 | 25 | c.305 others(42): Show |
DPT | ENSG00000143196.5 | transcript | ENST00000367817.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
DPY19L1_chr7_34923881_35042485 | 35017501 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG03490.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0006a0006c0007t0001 | a0001c0001t0001g0148 a0001c0001t0006g0305 a0006c0007t0001g0145 |
3 | 143 | 0.0210 | 25 | c.411 others(40): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 3/21 | chr7 | TogoVar | |||||||
DPY19L1_chr7_34923881_35042485 | 35027668 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02735.hp2 NA19078.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0317 a0002c0002t0003g0223 a0002c0002t0003g0224 |
3 | 128 | 0.0234 | 25 | c.299 others(42): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
DPY19L2_chr12_63553913_63673493 | 63591993 | A | AGGGAGGG others(18): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0326 | 1 | 350 | 0.0029 | 25 | c.158 others(44): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 16/21 | chr12 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97169523 | T | TTTTTATT others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG02132.hp2 |
a0003a0004 | a0003c0003a0003c0012a0004c0004 | a0003c0003t0002a0003c0012t0002a0004c0004t0002 | a0003c0003t0002g0017 a0003c0012t0002g0014 a0004c0004t0002g0003 |
3 | 6 | 0.5000 | 25 | c.262 others(46): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | |||||||
DPYSL2_chr8_26509031_26663175 | 26556110 | A | ATATAGTA others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01070.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0017a0001c0001t0050a0001c0004t0002others(7): Show | a0001c0001t0017g0071 a0001c0001t0050g0075 a0001c0004t0002g0062 others(11): Show |
14 | 313 | 0.0447 | 25 | c.355 others(44): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556134 | A | AGTATATA others(18): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0187 a0001c0002t0006g0190 |
2 | 195 | 0.0103 | 25 | c.355 others(44): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
DPYSL3_chr5_147385808_147515068 | 147428743 | T | TGTTCTCA others(18): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01433.hp2 HG01884.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0266 a0001c0001t0002g0141 a0001c0001t0002g0146 others(41): Show |
45 | 296 | 0.1520 | 25 | c.382 others(42): Show |
DPYSL3 | ENSG00000113657.13 | transcript | ENST00000343218.10 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26936945 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0039 | 1 | 19 | 0.0526 | 25 | c.947 others(42): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYS_chr8_104374431_104472055 | 104461291 | C | CAATAAAA others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0254 | 1 | 108 | 0.0093 | 25 | c.264 others(42): Show |
DPYS | ENSG00000147647.13 | transcript | ENST00000351513.7 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
DRAM1_chr12_101872580_101928612 | 101895186 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02257.hp1 NA18970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0200 a0001c0001t0001g0271 others(4): Show |
7 | 68 | 0.1029 | 25 | c.132 others(42): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090406 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0070 | 1 | 145 | 0.0069 | 25 | c.64+ others(40): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31421898 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0035 | a0001c0001t0003a0001c0002t0003a0005c0035t0003 | a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 others(3): Show |
6 | 117 | 0.0513 | 25 | c.342 others(42): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DSC2_chr18_31053840_31107421 | 31101412 | T | TGAGGCAC others(18): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18984.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0043 | a0001c0001t0001g0266 a0001c0001t0002g0267 a0002c0002t0043g0268 |
3 | 370 | 0.0081 | 25 | c.69+ others(38): Show |
DSC2 | ENSG00000134755.18 | transcript | ENST00000280904.11 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117687426 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18989.hp2 |
a0001a0006 | a0001c0011a0006c0065 | a0001c0011t0002a0006c0065t0001 | a0001c0011t0002g0175 a0006c0065t0001g0094 |
2 | 16 | 0.1250 | 25 | c.511 others(44): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117780200 | A | AGAGAGAG others(18): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0038 | 1 | 194 | 0.0052 | 25 | c.364 others(40): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 2/32 | chr11 | TogoVar | |||||||
DSE_chr6_116365947_116449861 | 116421463 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0323 | 1 | 240 | 0.0042 | 25 | c.417 others(42): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56812109 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02071.hp1 HG02071.hp2 others(2): Show |
a0001a0004a0025 | a0001c0001a0001c0037a0004c0003others(1): Show | a0001c0001t0001a0001c0037t0001a0004c0003t0004others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0037t0001g0033 others(2): Show |
5 | 19 | 0.2632 | 25 | c.625 others(44): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | |||||||
DTNA_chr18_34705298_34896844 | 34769725 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02647.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0048 a0001c0001t0002g0038 a0001c0001t0003g0082 |
3 | 41 | 0.0732 | 25 | c.148 others(42): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34790567 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 30 | 0.0333 | 25 | c.149 others(42): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25526395 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 55 | 0.0182 | 25 | c.100 others(44): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 9/20 | chr2 | TogoVar |