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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX46_chr5_134753779_134836121 | 134758016 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02451.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0027 | a0001c0002t0009g0313a0001c0002t0009g0314a0001c0002t0009g0315others(1): Show | 4 | 342 | 0.0117 | -8 | c.-92 others(17): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 762 | chr5 | TogoVar | ||||||
DDX46_chr5_134753779_134836121 | 134780098 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(51): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(51): Show | 54 | 342 | 0.1579 | -8 | c.766 others(24): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX46_chr5_134753779_134836121 | 134780564 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG01993.hp1 HG02015.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0063a0001c0001t0002g0106a0001c0001t0002g0321others(1): Show | 4 | 342 | 0.0117 | -8 | c.766 others(23): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DDX49_chr19_18914715_18933630 | 18917230 | ATTCTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02300.hp2 HG03490.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0075a0001c0001t0001g0076 | 4 | 398 | 0.0101 | -8 | c.-25 others(19): Show |
DDX49 | ENSG00000105671.12 | transcript | ENST00000247003.9 | protein_coding | 2484 | chr19 | TogoVar | ||||||
DDX4_chr5_55733061_55822157 | 55733120 | CTCCTTCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00733.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(56): Show | 61 | 346 | 0.1763 | -8 | c.-49 others(19): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 4940 | chr5 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68925094 | GGTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02486.hp1 others(7): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0243a0001c0002t0001g0263a0001c0002t0001g0264others(7): Show | 10 | 334 | 0.0299 | -8 | c.123 others(27): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68929307 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004 | a0001c0002t0001a0001c0005t0002a0002c0004t0001 | a0001c0002t0001g0270a0001c0005t0002g0179a0001c0005t0002g0241others(2): Show | 5 | 334 | 0.0150 | -8 | c.124 others(27): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68936515 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00621.hp2 others(21): Show |
a0000a0001 | a0000c0010a0001c0001a0001c0007others(1): Show | a0000c0010t0001a0001c0001t0001a0001c0007t0001others(1): Show | a0000c0010t0001g0127a0001c0001t0001g0005a0001c0001t0001g0104others(20): Show | 24 | 334 | 0.0719 | -8 | c.159 others(25): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68946014 | TTTAGAAT others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0105a0001c0001t0001g0155a0001c0001t0001g0156others(2): Show | 5 | 334 | 0.0150 | -8 | c.193 others(25): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX52_chr17_37604739_37648446 | 37610290 | ATTTTTTT others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02717.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0095 | a0001c0001t0007g0006a0001c0001t0007g0021a0001c0001t0007g0050others(4): Show | 14 | 411 | 0.0341 | -8 | c.*39 others(19): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 15/15 | 3998 | chr17 | TogoVar | |||||
DDX52_chr17_37604739_37648446 | 37629228 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00621.hp1 others(50): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(15): Show | a0001c0001t0001g0117a0001c0001t0002g0146a0001c0001t0022g0062others(34): Show | 53 | 411 | 0.1290 | -8 | c.748 others(23): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
DDX52_chr17_37604739_37648446 | 37629270 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02717.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006a0001c0001t0007g0021a0001c0001t0007g0050others(2): Show | 12 | 411 | 0.0292 | -8 | c.748 others(23): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
DDX52_chr17_37604739_37648446 | 37647226 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02647.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0007a0001c0001t0095a0002c0010t0059 | a0001c0001t0007g0006a0001c0001t0007g0021a0001c0001t0007g0050others(5): Show | 15 | 411 | 0.0365 | -8 | c.-38 others(19): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 3781 | chr17 | TogoVar | ||||||
DDX52_chr17_37604739_37648446 | 37647238 | GATAGATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01243.hp2 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0047a0001c0001t0002g0003a0001c0001t0002g0033others(73): Show | 114 | 411 | 0.2774 | -8 | c.-38 others(19): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 3793 | chr17 | TogoVar | ||||||
DDX55_chr12_123597099_123625943 | 123600295 | TTTTGTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(39): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0003 | a0001c0002t0002a0001c0002t0071a0002c0005t0001others(11): Show | a0001c0002t0002g0002a0001c0002t0002g0014a0001c0002t0002g0029others(21): Show | 42 | 304 | 0.1382 | -8 | c.-18 others(19): Show |
DDX55 | ENSG00000111364.16 | transcript | ENST00000238146.9 | protein_coding | 1803 | chr12 | TogoVar | ||||||
DDX55_chr12_123597099_123625943 | 123610605 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02258.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0013a0001c0001t0023a0001c0001t0026others(6): Show | a0001c0001t0013g0007a0001c0001t0013g0023a0001c0001t0013g0078others(9): Show | 14 | 304 | 0.0461 | -8 | c.741 others(23): Show |
DDX55 | ENSG00000111364.16 | transcript | ENST00000238146.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DDX55_chr12_123597099_123625943 | 123620580 | TTATATAT others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01256.hp1 HG01361.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0010a0001c0001t0036a0001c0002t0022others(5): Show | a0001c0001t0010g0001a0001c0001t0010g0015a0001c0001t0010g0017others(10): Show | 15 | 304 | 0.0493 | -8 | c.*48 others(17): Show |
DDX55 | ENSG00000111364.16 | transcript | ENST00000238146.9 | protein_coding | 14/14 | 481 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
DDX59_chr1_200639037_200674907 | 200659513 | CAGGCACC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0003t0004 | a0001c0001t0001g0016a0001c0001t0001g0213a0001c0001t0007g0054others(6): Show | 13 | 390 | 0.0333 | -8 | c.973 others(23): Show |
DDX59 | ENSG00000118197.14 | transcript | ENST00000331314.11 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168377291 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp1 HG01891.hp2 others(10): Show |
a0001a0003a0005others(7): Show | a0001c0002a0001c0039a0003c0001others(8): Show | a0001c0002t0001a0001c0039t0001a0003c0001t0002others(9): Show | a0001c0002t0001g0038a0001c0039t0001g0261a0003c0001t0002g0180others(10): Show | 13 | 268 | 0.0485 | -8 | c.448 others(27): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 33/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168420463 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01168.hp2 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0039a0002c0004a0002c0009others(9): Show | a0001c0039t0001a0002c0004t0002a0002c0009t0003others(9): Show | a0001c0039t0001g0261a0002c0004t0002g0041a0002c0009t0003g0252others(10): Show | 13 | 268 | 0.0485 | -8 | c.239 others(23): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 17/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168420642 | GAGATAGA others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp1 HG01884.hp1 others(14): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0042a0002c0018others(10): Show | a0001c0002t0001a0001c0002t0007a0001c0042t0001others(11): Show | a0001c0002t0001g0048a0001c0002t0007g0032a0001c0042t0001g0146others(14): Show | 17 | 268 | 0.0634 | -8 | c.239 others(25): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 17/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168420678 | TAGATAGA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01123.hp2 others(28): Show |
a0001a0002a0003others(7): Show | a0001c0042a0002c0004a0002c0009others(18): Show | a0001c0042t0001a0002c0004t0002a0002c0004t0003others(23): Show | a0001c0042t0001g0147a0002c0004t0002g0076a0002c0004t0003g0024others(28): Show | 31 | 268 | 0.1157 | -8 | c.239 others(25): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 17/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168420682 | TAGACAGA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01071.hp2 others(14): Show |
a0002a0003a0006others(4): Show | a0002c0009a0002c0086a0003c0012others(8): Show | a0002c0009t0003a0002c0086t0002a0003c0012t0002others(9): Show | a0002c0009t0003g0245a0002c0009t0003g0252a0002c0009t0003g0264others(13): Show | 17 | 268 | 0.0634 | -8 | c.239 others(25): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 17/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168449658 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01255.hp1 others(5): Show |
a0006a0009a0018others(2): Show | a0006c0006a0009c0028a0009c0029others(4): Show | a0006c0006t0002a0009c0028t0001a0009c0029t0001others(4): Show | a0006c0006t0002g0128a0009c0028t0001g0124a0009c0029t0001g0125others(5): Show | 8 | 268 | 0.0299 | -8 | c.997 others(23): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 8/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168459774 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG03225.hp2 |
a0010a0014 | a0010c0044a0014c0017 | a0010c0044t0002a0014c0017t0002a0014c0017t0010 | a0010c0044t0002g0072a0014c0017t0002g0074a0014c0017t0010g0071 | 3 | 268 | 0.0112 | -8 | c.607 others(25): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168479122 | TGATGGAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG02257.hp2 HG02572.hp1 others(19): Show |
a0002a0004a0010others(9): Show | a0002c0009a0002c0018a0004c0005others(12): Show | a0002c0009t0002a0002c0018t0003a0004c0005t0001others(13): Show | a0002c0009t0002g0215a0002c0018t0003g0066a0004c0005t0001g0113others(19): Show | 22 | 268 | 0.0821 | -8 | c.-11 others(27): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 1/37 | chr4 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168479158 | GGATGGAT others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01496.hp1 others(1): Show |
a0003a0005a0030 | a0003c0001a0005c0003a0005c0008others(1): Show | a0003c0001t0002a0005c0003t0001a0005c0008t0001others(1): Show | a0003c0001t0002g0213a0005c0003t0001g0210a0005c0008t0001g0212others(1): Show | 4 | 268 | 0.0149 | -8 | c.-11 others(27): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 1/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168285969 | TGAAAGAA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0001a0001c0008t0001a0001c0013t0001 | a0001c0001t0001g0169a0001c0001t0001g0179a0001c0008t0001g0266others(1): Show | 4 | 270 | 0.0148 | -8 | c.134 others(25): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 10/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168286423 | GAGATAGA others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03139.hp1 HG03195.hp2 |
a0001a0002 | a0001c0012a0002c0007 | a0001c0012t0004a0002c0007t0001 | a0001c0012t0004g0206a0002c0007t0001g0224a0002c0007t0001g0225 | 3 | 270 | 0.0111 | -8 | c.133 others(25): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 10/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168297297 | CGAAAGAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01175.hp2 others(14): Show |
a0001a0006a0014others(1): Show | a0001c0001a0006c0030a0014c0029others(1): Show | a0001c0001t0001a0006c0030t0001a0014c0029t0001others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0057others(14): Show | 17 | 270 | 0.0630 | -8 | c.724 others(25): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
DEFA1B_chr8_6991766_7004198 | 6993387 | CTTTTCTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(88): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(8): Show | 91 | 398 | 0.2286 | -8 | c.*34 others(19): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 3378 | chr8 | TogoVar | ||||||
DEFA1_chr8_6972649_6985092 | 6974207 | TTTTCTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp2 HG02809.hp2 NA18957.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0007a0001c0003t0001g0001a0001c0003t0001g0070 | 4 | 408 | 0.0098 | -8 | c.*35 others(19): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 3441 | chr8 | TogoVar | ||||||
DEFA3_chr8_7010869_7023297 | 7012490 | CTTTTCTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0011others(2): Show | 16 | 430 | 0.0372 | -8 | c.*34 others(19): Show |
DEFA3 | ENSG00000239839.7 | transcript | ENST00000327857.7 | protein_coding | 3378 | chr8 | TogoVar | ||||||
DEFB107A_chr8_7806720_7820716 | 7809593 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01167.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(4): Show | 12 | 170 | 0.0706 | -8 | c.*22 others(19): Show |
DEFB107A | ENSG00000186572.2 | transcript | ENST00000335021.2 | protein_coding | 2126 | chr8 | TogoVar | ||||||
DEFB112_chr6_50037099_50054929 | 50046221 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039a0001c0001t0006g0040 | 4 | 332 | 0.0121 | -8 | c.59- others(23): Show |
DEFB112 | ENSG00000180872.7 | transcript | ENST00000651554.2 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
DEFB118_chr20_31363601_31378923 | 31367587 | AAGCTTTA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0010others(8): Show | 43 | 378 | 0.1138 | -8 | c.-10 others(19): Show |
DEFB118 | ENSG00000131068.4 | transcript | ENST00000253381.3 | protein_coding | 1013 | chr20 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31455008 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01192.hp2 HG01257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0057a0001c0001t0002g0150others(3): Show | 11 | 372 | 0.0296 | -8 | c.*48 others(19): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 4752 | chr20 | TogoVar | ||||||
DEFB127_chr20_152454_164163 | 157927 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(125): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009a0002c0002t0010 | a0002c0002t0002g0002a0002c0002t0002g0015a0002c0002t0002g0021others(3): Show | 128 | 450 | 0.2844 | -8 | c.49+ others(21): Show |
DEFB127 | ENSG00000088782.5 | transcript | ENST00000382388.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DEFB127_chr20_152454_164163 | 157929 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(214): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(6): Show | 217 | 450 | 0.4822 | -8 | c.49+ others(21): Show |
DEFB127 | ENSG00000088782.5 | transcript | ENST00000382388.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DEFB132_chr20_252724_266096 | 255818 | GATATATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG03139.hp2 NA19030.hp1 others(1): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0007a0006c0006t0009 | a0002c0002t0007g0002a0006c0006t0009g0008 | 4 | 430 | 0.0093 | -8 | c.-19 others(19): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 1905 | chr20 | TogoVar | ||||||
DEFB132_chr20_252724_266096 | 261185 | TTTTGTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02723.hp2 HG03041.hp1 others(18): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0002a0005c0005t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0002c0002t0002g0002others(3): Show | 21 | 430 | 0.0488 | -8 | c.*18 others(19): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 90 | chr20 | TogoVar | ||||||
DEFB132_chr20_252724_266096 | 263497 | TGTGTGTG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(153): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(14): Show | 156 | 430 | 0.3628 | -8 | c.*41 others(19): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 2402 | chr20 | TogoVar | ||||||
DEFB134_chr8_11988174_12005752 | 12001892 | TTTTCTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01256.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0002g0002others(3): Show | 10 | 448 | 0.0223 | -8 | c.-12 others(19): Show |
DEFB134 | ENSG00000205882.9 | transcript | ENST00000382205.6 | protein_coding | 1141 | chr8 | TogoVar | ||||||
DEFB134_chr8_11988174_12005752 | 12001956 | TTCTTTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01071.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0069a0001c0001t0003g0004a0001c0001t0003g0011others(11): Show | 18 | 448 | 0.0402 | -8 | c.-13 others(19): Show |
DEFB134 | ENSG00000205882.9 | transcript | ENST00000382205.6 | protein_coding | 1205 | chr8 | TogoVar | ||||||
DEFB134_chr8_11988174_12005752 | 12001960 | TTCTCTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0052a0001c0001t0008g0005 | 4 | 448 | 0.0089 | -8 | c.-13 others(19): Show |
DEFB134 | ENSG00000205882.9 | transcript | ENST00000382205.6 | protein_coding | 1209 | chr8 | TogoVar | ||||||
DEFB136_chr8_11968937_11979599 | 11976487 | CTATCATC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001a0001c0001t0000g0008 | 73 | 426 | 0.1714 | -8 | c.-18 others(19): Show |
DEFB136 | ENSG00000205884.2 | transcript | ENST00000382209.2 | protein_coding | 1889 | chr8 | TogoVar | ||||||
DEFB136_chr8_11968937_11979599 | 11976491 | CATCTATC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG02109.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0000a0001c0002t0000 | a0001c0001t0000g0001a0001c0001t0000g0004a0001c0002t0000g0002 | 23 | 426 | 0.0540 | -8 | c.-19 others(19): Show |
DEFB136 | ENSG00000205884.2 | transcript | ENST00000382209.2 | protein_coding | 1893 | chr8 | TogoVar | ||||||
DEFB1_chr8_6865592_6882936 | 6875064 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0030a0001c0001t0001g0093a0001c0001t0002g0125others(15): Show | 44 | 478 | 0.0921 | -8 | c.61+ others(23): Show |
DEFB1 | ENSG00000164825.4 | transcript | ENST00000297439.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEGS1_chr1_224178240_224198441 | 224184970 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02630.hp1 HG02818.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0020a0001c0001t0002g0053a0001c0001t0002g0139others(9): Show | 15 | 426 | 0.0352 | -8 | c.82+ others(23): Show |
DEGS1 | ENSG00000143753.14 | transcript | ENST00000323699.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DEGS2_chr14_100138957_100164645 | 100153252 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01168.hp2 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(10): Show | a0001c0001t0001g0045a0001c0001t0001g0077a0001c0001t0001g0153others(19): Show | 26 | 440 | 0.0591 | -8 | c.83- others(23): Show |
DEGS2 | ENSG00000168350.8 | transcript | ENST00000305631.7 | protein_coding | 1/2 | chr14 | TogoVar |