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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEFA1B_chr8_6991766_7004198 | 6998909 | G | GGACATGT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(136): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0014others(26): Show | 139 | 398 | 0.3493 | 7 | c.-13 others(22): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
DEFA1B_chr8_6991766_7004198 | 7001165 | C | CCTTGGGT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(8): Show | 99 | 398 | 0.2487 | 7 | c.-20 others(18): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 1968 | chr8 | TogoVar | ||||||
DEFA1_chr8_6972649_6985092 | 6982055 | C | CCTTGGGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(21): Show | 180 | 408 | 0.4412 | 7 | c.-20 others(18): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 1964 | chr8 | TogoVar | ||||||
DEFA1_chr8_6972649_6985092 | 6982060 | G | GGTCTTGA | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG02257.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0043a0002c0002t0002g0013a0002c0002t0002g0014others(1): Show | 13 | 408 | 0.0319 | 7 | c.-20 others(18): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 1969 | chr8 | TogoVar | ||||||
DEFA3_chr8_7010869_7023297 | 7012490 | C | CTTTTTCT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(98): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(12): Show | 101 | 430 | 0.2349 | 7 | c.*34 others(18): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 3378 | chr8 | TogoVar | ||||||
DEFA3_chr8_7010869_7023297 | 7018008 | G | GGACATGT | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01516.hp1 others(16): Show |
a0001a0002a0007 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0052others(4): Show | 19 | 430 | 0.0442 | 7 | c.-13 others(22): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
DEFA3_chr8_7010869_7023297 | 7020264 | C | CCTTGGGT | upstream_gene_variant | MODIFIER | NA18959.hp2 NA18965.hp1 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 5 | 430 | 0.0116 | 7 | c.-20 others(18): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 1968 | chr8 | TogoVar | ||||||
DEFB104A_chr8_7831436_7846242 | 7838701 | C | CAAACAAA | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0037a0002c0002t0001g0006 | 6 | 148 | 0.0405 | 7 | c.58+ others(22): Show |
DEFB104A | ENSG00000176782.3 | transcript | ENST00000314265.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEFB106A_chr8_7820139_7834053 | 7829529 | T | TCCCTCCC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(13): Show | 49 | 160 | 0.3063 | 7 | c.*57 others(16): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 477 | chr8 | TogoVar | ||||||
DEFB107A_chr8_7806720_7820716 | 7816064 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00621.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(4): Show | 7 | 170 | 0.0412 | 7 | c.-43 others(16): Show |
DEFB107A | ENSG00000186572.2 | transcript | ENST00000335021.2 | protein_coding | 349 | chr8 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31460620 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194a0001c0001t0002g0036a0001c0001t0002g0100others(5): Show | 8 | 362 | 0.0221 | 7 | c.*48 others(18): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 4850 | chr20 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31463125 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0002g0114others(1): Show | 6 | 362 | 0.0166 | 7 | c.*23 others(18): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2345 | chr20 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31472439 | A | AGGGAGAG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0011others(58): Show | 80 | 362 | 0.2210 | 7 | c.58+ others(20): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
DEFB130A_chr8_12305962_12323316 | 12309469 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0010a0001c0001t0000g0077 | 8 | 338 | 0.0237 | 7 | c.*14 others(18): Show |
DEFB130A | ENSG00000232948.1 | transcript | ENST00000400079.1 | protein_coding | 1492 | chr8 | TogoVar | ||||||
DEFB132_chr20_252724_266096 | 255356 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01168.hp1 HG01243.hp1 others(29): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0003g0003a0001c0001t0003g0006others(4): Show | 32 | 430 | 0.0744 | 7 | c.-24 others(18): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 2367 | chr20 | TogoVar | ||||||
DENND10_chr10_119099113_119142984 | 119135791 | T | TAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 HG02976.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0104a0001c0001t0001g0196a0001c0001t0001g0210others(10): Show | 13 | 374 | 0.0348 | 7 | c.898 others(22): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DENND1A_chr9_123374658_123935126 | 123516884 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01168.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0085a0001c0001t0001g0144others(14): Show | 17 | 162 | 0.1049 | 7 | c.993 others(26): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 13/23 | chr9 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123627757 | A | AAAAAAAG | intron_variant | MODIFIER | HG01167.hp1 HG02132.hp2 HG02818.hp2 others(5): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0010 | a0001c0002t0009a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0002t0009g0037a0001c0003t0001g0147a0001c0003t0001g0149others(5): Show | 8 | 162 | 0.0494 | 7 | c.719 others(24): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123728479 | C | CAAAAAAA | intron_variant | MODIFIER | HG02056.hp2 HG02818.hp2 HG02886.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0010others(2): Show | a0001c0001t0003g0076a0001c0001t0004g0156a0001c0003t0010g0151others(2): Show | 5 | 162 | 0.0309 | 7 | c.302 others(26): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 5/23 | chr9 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197544983 | G | GGGAAGAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0059others(253): Show | 257 | 280 | 0.9179 | 7 | c.135 others(24): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 18/22 | chr1 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197571219 | T | TTACAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(50): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(6): Show | a0001c0001t0003g0008a0001c0001t0003g0009a0001c0001t0003g0010others(50): Show | 53 | 280 | 0.1893 | 7 | c.114 others(28): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 15/22 | chr1 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197667821 | A | AAAAAATG | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02723.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0029a0001c0001t0035a0001c0003t0026others(4): Show | a0001c0001t0029g0278a0001c0001t0029g0279a0001c0001t0035g0014others(10): Show | 13 | 280 | 0.0464 | 7 | c.296 others(24): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 5/22 | chr1 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197676082 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(174): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0001g0013a0001c0001t0001g0161a0001c0001t0001g0163others(174): Show | 177 | 280 | 0.6321 | 7 | c.127 others(24): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197754659 | C | CAAAAAAA | intron_variant | MODIFIER | HG01361.hp1 HG02027.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0002others(3): Show | a0001c0001t0003g0129a0001c0001t0005g0147a0001c0002t0002g0072others(8): Show | 11 | 280 | 0.0393 | 7 | c.82+ others(24): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
DENND2A_chr7_140513420_140645813 | 140562676 | A | AACAAAAC | intron_variant | MODIFIER | HG00642.hp1 HG02071.hp2 HG02165.hp2 others(15): Show |
a0002a0003a0008 | a0002c0009a0002c0016a0003c0005others(3): Show | a0002c0009t0002a0002c0016t0003a0003c0005t0002others(5): Show | a0002c0009t0002g0015a0002c0016t0003g0025a0003c0005t0002g0005others(15): Show | 18 | 254 | 0.0709 | 7 | c.178 others(26): Show |
DENND2A | ENSG00000146966.13 | transcript | ENST00000496613.6 | protein_coding | 9/19 | chr7 | TogoVar | ||||||
DENND2B_chr11_8688352_8815674 | 8698137 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01099.hp1 HG02257.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0038a0001c0001t0001g0242others(11): Show | 14 | 352 | 0.0398 | 7 | c.294 others(24): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 16/19 | chr11 | TogoVar | ||||||
DENND4B_chr1_153924501_153951718 | 153943678 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01433.hp1 others(20): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0006a0002c0002t0001g0020a0002c0002t0001g0064others(5): Show | 23 | 386 | 0.0596 | 7 | c.317 others(22): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 2/27 | chr1 | TogoVar | ||||||
DENND4C_chr9_19225693_19379281 | 19282715 | C | CTCTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01884.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0188a0001c0001t0001g0214others(10): Show | 13 | 292 | 0.0445 | 7 | c.306 others(24): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DENND5A_chr11_9133825_9270350 | 9171697 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG02698.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140a0001c0001t0003g0141a0001c0001t0003g0142others(3): Show | 6 | 284 | 0.0211 | 7 | c.190 others(24): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 8/22 | chr11 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31395942 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 NA18964.hp1 NA18993.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0035 | a0003c0003t0002g0144a0003c0003t0002g0146a0003c0003t0002g0149others(3): Show | 6 | 308 | 0.0195 | 7 | c.325 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31397549 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01106.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0246a0001c0001t0004g0268a0001c0001t0004g0282others(8): Show | 11 | 308 | 0.0357 | 7 | c.325 others(24): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31404759 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(69): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0232others(69): Show | 72 | 308 | 0.2338 | 7 | c.280 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 14/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31449731 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01099.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0014others(2): Show | a0001c0001t0003a0001c0001t0042a0001c0012t0051others(4): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231others(28): Show | 31 | 308 | 0.1007 | 7 | c.163 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31449735 | T | TTTTGTTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(110): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0016others(24): Show | a0001c0001t0005g0125a0001c0001t0009g0054a0001c0001t0009g0057others(110): Show | 113 | 308 | 0.3669 | 7 | c.163 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31497823 | A | ATGGGGAG | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00673.hp2 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0035 | a0003c0003t0002g0140a0003c0003t0002g0144a0003c0003t0002g0145others(13): Show | 16 | 308 | 0.0520 | 7 | c.128 others(24): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31545950 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG01891.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0009a0001c0005t0004a0002c0002t0001others(5): Show | a0001c0001t0009g0111a0001c0005t0004g0270a0001c0005t0004g0272others(19): Show | 22 | 308 | 0.0714 | 7 | c.127 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60699443 | G | GAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00642.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0241a0001c0001t0001g0242others(31): Show | 36 | 292 | 0.1233 | 7 | c.48+ others(20): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
DEPDC1_chr1_68469152_68502082 | 68480251 | A | AACACCAC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0023 | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0039others(4): Show | 21 | 364 | 0.0577 | 7 | c.193 others(24): Show |
DEPDC1 | ENSG00000024526.17 | transcript | ENST00000456315.7 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31770547 | A | ATTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG01516.hp2 HG01517.hp1 others(4): Show |
a0001a0005 | a0001c0009a0001c0014a0005c0006others(1): Show | a0001c0009t0010a0001c0014t0010a0005c0006t0009others(1): Show | a0001c0009t0010g0174a0001c0009t0010g0176a0001c0014t0010g0175others(4): Show | 7 | 204 | 0.0343 | 7 | c.413 others(24): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 7/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
DEPDC5_chr22_31749019_31913033 | 31879029 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01081.hp1 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0008a0002c0003others(2): Show | a0001c0001t0004a0001c0008t0003a0002c0003t0004others(3): Show | a0001c0001t0004g0108a0001c0008t0003g0184a0002c0003t0004g0012others(10): Show | 13 | 204 | 0.0637 | 7 | c.380 others(24): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 37/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
DEPDC5_chr22_31749019_31913033 | 31887419 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 HG02145.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0001t0008a0001c0002t0003others(1): Show | a0001c0001t0005g0122a0001c0001t0008g0163a0001c0002t0003g0177others(3): Show | 6 | 204 | 0.0294 | 7 | c.403 others(26): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 38/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 119900356 | A | AATTGTCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0004others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(12): Show | a0001c0003t0001g0097a0001c0003t0001g0117a0001c0003t0001g0120others(69): Show | 72 | 198 | 0.3636 | 7 | c.122 others(26): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 120030497 | G | GTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01361.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0004a0001c0003t0001a0001c0003t0003others(7): Show | a0001c0002t0004g0075a0001c0003t0001g0097a0001c0003t0003g0020others(22): Show | 25 | 198 | 0.1263 | 7 | c.110 others(28): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DET1_chr15_88507480_88551681 | 88515538 | T | TAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG01099.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0076others(30): Show | 38 | 402 | 0.0945 | 7 | c.146 others(26): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 4/4 | chr15 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88533852 | T | TAAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01243.hp2 HG01256.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009a0001c0001t0001g0029a0001c0001t0001g0030others(16): Show | 20 | 402 | 0.0498 | 7 | c.-10 others(24): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88536770 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0031others(7): Show | 11 | 402 | 0.0274 | 7 | c.-10 others(24): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
DEUP1_chr11_93325742_93443470 | 93329041 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(114): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0033a0001c0001t0001g0046a0001c0001t0001g0054others(109): Show | 117 | 368 | 0.3179 | 7 | c.-17 others(18): Show |
DEUP1 | ENSG00000165325.15 | transcript | ENST00000298050.9 | protein_coding | 1700 | chr11 | TogoVar | ||||||
DEUP1_chr11_93325742_93443470 | 93379751 | C | CATGCACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(120): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0016others(2): Show | a0001c0001t0005a0002c0002t0001a0002c0002t0002others(13): Show | a0001c0001t0005g0093a0001c0001t0005g0100a0002c0002t0001g0003others(110): Show | 123 | 368 | 0.3342 | 7 | c.790 others(24): Show |
DEUP1 | ENSG00000165325.15 | transcript | ENST00000298050.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DFFB_chr1_3852476_3890429 | 3856816 | G | GCCCGCGC | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02622.hp2 others(9): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0018a0001c0002t0002others(3): Show | a0001c0001t0006g0082a0001c0001t0018g0083a0001c0002t0002g0080others(9): Show | 12 | 404 | 0.0297 | 7 | c.-78 others(16): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 659 | chr1 | TogoVar | ||||||
DGAT2L6_chrX_70172483_70210704 | 70182469 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0083a0001c0001t0002g0033 | 2 | 274 | 0.0073 | 7 | c.85+ others(22): Show |
DGAT2L6 | ENSG00000184210.6 | transcript | ENST00000333026.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar |