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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DRAXIN_chr1_11686710_11730857 | 11710921 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(7): Show | a0001c0001t0002g0186a0001c0001t0003g0181a0001c0001t0003g0233others(8): Show | 14 | 398 | 0.0352 | 5 | c.643 others(20): Show |
DRAXIN | ENSG00000162490.7 | transcript | ENST00000294485.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DRAXIN_chr1_11686710_11730857 | 11718141 | T | TAAAAA | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0087others(1): Show | a0001c0001t0001g0028a0001c0001t0022g0050a0001c0001t0022g0051others(3): Show | 6 | 398 | 0.0151 | 5 | c.938 others(22): Show |
DRAXIN | ENSG00000162490.7 | transcript | ENST00000294485.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DRC1_chr2_26396920_26461711 | 26398037 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(22): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0211a0001c0001t0001g0225a0001c0001t0003g0220others(22): Show | 25 | 384 | 0.0651 | 5 | c.-39 others(16): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 3882 | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26410827 | C | CAACAA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp1 others(58): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0007a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0315a0001c0001t0001g0330others(55): Show | 61 | 384 | 0.1589 | 5 | c.156 others(22): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DRD2_chr11_113404605_113480398 | 113439838 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0091others(24): Show | 29 | 340 | 0.0853 | 5 | c.-31 others(24): Show |
DRD2 | ENSG00000149295.14 | transcript | ENST00000362072.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
DRG1_chr22_31394604_31439452 | 31424811 | C | CCCCCT | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01099.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0057a0001c0001t0002g0062others(14): Show | 18 | 350 | 0.0514 | 5 | c.713 others(22): Show |
DRG1 | ENSG00000185721.13 | transcript | ENST00000331457.9 | protein_coding | 6/8 | chr22 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090407 | T | TATATA | intron_variant | MODIFIER | HG00597.hp2 HG02083.hp2 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0157a0001c0001t0001g0158others(2): Show | 7 | 418 | 0.0168 | 5 | c.64+ others(20): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
DRICH1_chr22_23603452_23637321 | 23617808 | G | GACAGA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(210): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0014a0001c0015others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(139): Show | 213 | 446 | 0.4776 | 5 | c.437 others(20): Show |
DRICH1 | ENSG00000189269.13 | transcript | ENST00000317749.9 | protein_coding | 6/11 | chr22 | TogoVar | ||||||
DRICH1_chr22_23603452_23637321 | 23632675 | A | AGGGGG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 NA18940.hp2 others(13): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0012 | a0002c0002t0002a0003c0003t0002a0003c0003t0004others(2): Show | a0002c0002t0002g0014a0003c0003t0002g0005a0003c0003t0002g0109others(8): Show | 16 | 446 | 0.0359 | 5 | c.-65 others(14): Show |
DRICH1 | ENSG00000189269.13 | transcript | ENST00000317749.9 | protein_coding | 355 | chr22 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31485635 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(85): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0002g0050a0001c0001t0003g0257a0001c0001t0005g0302others(85): Show | 88 | 322 | 0.2733 | 5 | c.191 others(22): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 14/35 | chr5 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31510063 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(75): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0013others(6): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0002g0050a0001c0001t0002g0224a0001c0001t0005g0302others(75): Show | 78 | 322 | 0.2422 | 5 | c.143 others(22): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 9/35 | chr5 | TogoVar | ||||||
DRP2_chrX_101214786_101269502 | 101224181 | G | GTTTTT | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03225.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0011 | a0002c0002t0002g0158a0002c0002t0002g0168a0002c0002t0002g0169others(1): Show | 4 | 260 | 0.0154 | 5 | c.-16 others(22): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 1/23 | chrX | TogoVar | ||||||
DRP2_chrX_101214786_101269502 | 101264341 | A | ATTCTG | 3_prime_UTR_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0006 | 1 | 260 | 0.0039 | 5 | c.*37 others(16): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 24/24 | 3721 | chrX | TogoVar | |||||
DRP2_chrX_101214786_101269502 | 101264355 | A | ATTCAT | 3_prime_UTR_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0006 | 1 | 260 | 0.0039 | 5 | c.*37 others(16): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 24/24 | 3735 | chrX | TogoVar | |||||
DSC1_chr18_31124236_31167856 | 31129235 | A | ATTTTT | splice_region_variant | LOW | HG01074.hp2 HG01167.hp1 HG01169.hp1 others(27): Show |
a0003a0006a0010 | a0003c0007a0003c0014a0003c0016others(7): Show | a0003c0007t0004a0003c0007t0006a0003c0014t0004others(10): Show | a0003c0007t0004g0043a0003c0007t0004g0054a0003c0007t0004g0071others(26): Show | 30 | 378 | 0.0794 | 5 | c.*12 others(16): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 16/16 | chr18 | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31150384 | C | CACTAT | intron_variant | MODIFIER | HG01891.hp1 HG03139.hp2 HG03471.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0305a0001c0009t0001g0306a0001c0009t0001g0307 | 3 | 378 | 0.0079 | 5 | c.628 others(22): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 30989924 | T | TTAAAA | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(247): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(115): Show | a0001c0001t0001g0033a0001c0001t0001g0080a0001c0001t0001g0088others(237): Show | 250 | 392 | 0.6378 | 5 | c.*42 others(16): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 16/16 | 4250 | chr18 | TogoVar | |||||
DSC3_chr18_30984365_31047742 | 30995996 | A | AGAAAG | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00639.hp1 others(45): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(17): Show | a0001c0001t0001g0088a0001c0001t0001g0210a0001c0001t0007g0155others(44): Show | 48 | 392 | 0.1225 | 5 | c.249 others(22): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 15/15 | chr18 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 31011969 | C | CAAAAA | intron_variant | MODIFIER | HG02056.hp1 HG02056.hp2 HG03098.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0004t0061a0002c0002t0001others(3): Show | a0001c0001t0002g0358a0001c0004t0061g0185a0002c0002t0001g0032others(3): Show | 6 | 392 | 0.0153 | 5 | c.126 others(24): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 9/15 | chr18 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 31013251 | A | AATTGT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(271): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(120): Show | a0001c0001t0001g0033a0001c0001t0001g0080a0001c0001t0001g0088others(265): Show | 274 | 392 | 0.6990 | 5 | c.126 others(24): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 9/15 | chr18 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 31037897 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02717.hp1 others(9): Show |
a0002a0009 | a0002c0002a0002c0006a0002c0012others(1): Show | a0002c0002t0024a0002c0002t0098a0002c0006t0014others(3): Show | a0002c0002t0024g0333a0002c0002t0024g0334a0002c0002t0098g0327others(8): Show | 12 | 392 | 0.0306 | 5 | c.69+ others(20): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117453746 | C | CTTTCT | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG02055.hp2 others(5): Show |
a0001a0002a0003 | a0001c0042a0001c0050a0002c0002others(3): Show | a0001c0042t0003a0001c0050t0001a0002c0002t0001others(5): Show | a0001c0042t0003g0127a0001c0050t0001g0022a0002c0002t0001g0056others(5): Show | 8 | 194 | 0.0412 | 5 | c.356 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 19/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117531915 | A | AAAGGG | intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0015a0001c0020a0001c0036 | a0001c0015t0002a0001c0015t0005a0001c0020t0001others(2): Show | a0001c0015t0002g0038a0001c0015t0005g0008a0001c0020t0001g0027others(2): Show | 5 | 194 | 0.0258 | 5 | c.658 others(20): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 4/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117575846 | C | CCAAAA | intron_variant | MODIFIER | HG02056.hp1 HG02451.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0005a0001c0011a0001c0030others(2): Show | a0001c0005t0001a0001c0011t0002a0001c0011t0003others(3): Show | a0001c0005t0001g0084a0001c0011t0002g0007a0001c0011t0002g0174others(4): Show | 7 | 194 | 0.0361 | 5 | c.512 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117630658 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02055.hp2 others(5): Show |
a0001a0002 | a0001c0009a0001c0011a0001c0015others(4): Show | a0001c0009t0002a0001c0011t0002a0001c0015t0002others(5): Show | a0001c0009t0002g0019a0001c0011t0002g0174a0001c0015t0002g0038others(5): Show | 8 | 194 | 0.0412 | 5 | c.512 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117714826 | G | GGAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(136): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0007a0001c0008others(55): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0004others(90): Show | a0001c0005t0001g0084a0001c0005t0001g0190a0001c0005t0003g0046others(136): Show | 139 | 194 | 0.7165 | 5 | c.511 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117725801 | C | CACAAA | intron_variant | MODIFIER | HG02135.hp1 HG02257.hp1 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0009a0001c0020a0001c0027others(5): Show | a0001c0009t0001a0001c0009t0003a0001c0020t0003others(6): Show | a0001c0009t0001g0068a0001c0009t0001g0069a0001c0009t0003g0157others(7): Show | 10 | 194 | 0.0516 | 5 | c.511 others(24): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117769552 | A | ATATAT | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0005a0001c0007a0001c0017others(2): Show | a0001c0005t0003a0001c0007t0001a0001c0017t0004others(2): Show | a0001c0005t0003g0046a0001c0007t0001g0092a0001c0007t0001g0111others(4): Show | 7 | 194 | 0.0361 | 5 | c.511 others(22): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCC1_chr8_119828976_119860894 | 119849184 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(40): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0008others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0024others(27): Show | 43 | 378 | 0.1138 | 5 | c.486 others(22): Show |
DSCC1 | ENSG00000136982.6 | transcript | ENST00000313655.5 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
DSEL_chr18_67501587_67521720 | 67506148 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01952.hp2 HG02145.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009 | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0007g0005others(1): Show | 7 | 421 | 0.0166 | 5 | c.*48 others(16): Show |
DSEL | ENSG00000171451.15 | transcript | ENST00000310045.9 | protein_coding | 438 | chr18 | TogoVar | ||||||
DSE_chr6_116365947_116449861 | 116421464 | T | TATATA | intron_variant | MODIFIER | HG01934.hp1 HG02071.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097a0001c0001t0001g0108a0001c0001t0001g0134others(1): Show | 4 | 366 | 0.0109 | 5 | c.417 others(22): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
DSE_chr6_116365947_116449861 | 116438077 | A | ATAACT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(238): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(39): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0028others(223): Show | 241 | 366 | 0.6585 | 5 | c.*73 others(14): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 6/6 | 736 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
DSE_chr6_116365947_116449861 | 116445575 | A | ATATTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0004c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(36): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0028others(213): Show | 229 | 366 | 0.6257 | 5 | c.*82 others(16): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 715 | chr6 | TogoVar | ||||||
DSG2_chr18_31493177_31554008 | 31508353 | A | ATTTAT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0165a0001c0001t0001g0189a0001c0001t0001g0234others(12): Show | 16 | 354 | 0.0452 | 5 | c.46- others(20): Show |
DSG2 | ENSG00000046604.14 | transcript | ENST00000261590.13 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG2_chr18_31493177_31554008 | 31534508 | A | ATTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0006t0006a0001c0006t0017others(5): Show | a0001c0001t0001g0198a0001c0001t0001g0221a0001c0006t0006g0027others(80): Show | 104 | 354 | 0.2938 | 5 | c.128 others(22): Show |
DSG2 | ENSG00000046604.14 | transcript | ENST00000261590.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG3_chr18_31442741_31483702 | 31453417 | C | CTAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(106): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0049a0001c0001t0002g0002a0001c0001t0002g0003others(72): Show | 109 | 346 | 0.3150 | 5 | c.49- others(20): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DSG3_chr18_31442741_31483702 | 31482767 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02723.hp1 HG03017.hp2 others(2): Show |
a0001a0010 | a0001c0001a0001c0017a0010c0013 | a0001c0001t0019a0001c0017t0043a0010c0013t0041 | a0001c0001t0019g0020a0001c0017t0043g0180a0010c0013t0041g0096 | 5 | 346 | 0.0145 | 5 | c.*65 others(16): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 4066 | chr18 | TogoVar | ||||||
DSG4_chr18_31371777_31419909 | 31374855 | G | GTGAGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(214): Show |
a0001a0007a0009others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(135): Show | 217 | 344 | 0.6308 | 5 | c.-20 others(16): Show |
DSG4 | ENSG00000175065.12 | transcript | ENST00000308128.9 | protein_coding | 1921 | chr18 | TogoVar | ||||||
DSPP_chr4_87603529_87621873 | 87605101 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00558.hp2 HG02056.hp2 HG02135.hp1 others(7): Show |
a0005a0006a0007others(2): Show | a0005c0004a0006c0008a0007c0006others(3): Show | a0005c0004t0002a0006c0008t0001a0007c0006t0001others(3): Show | a0005c0004t0002g0004a0006c0008t0001g0001a0007c0006t0001g0016others(5): Show | 10 | 450 | 0.0222 | 5 | c.-35 others(16): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 3427 | chr4 | TogoVar | ||||||
DSTN_chr20_17565075_17614919 | 17574870 | G | GTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0030others(35): Show | 45 | 348 | 0.1293 | 5 | c.3+4 others(18): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DSTN_chr20_17565075_17614919 | 17578961 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01346.hp1 HG03942.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0160a0001c0001t0001g0175a0001c0001t0001g0176others(4): Show | 7 | 348 | 0.0201 | 5 | c.3+8 others(18): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DSTN_chr20_17565075_17614919 | 17583735 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01070.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0031others(35): Show | 46 | 348 | 0.1322 | 5 | c.3+1 others(20): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DSTYK_chr1_205137505_205216702 | 205171475 | A | ATCTTT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG01192.hp1 others(17): Show |
a0001a0002a0006 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0002a0001c0007t0012a0002c0003t0006others(5): Show | a0001c0001t0002g0078a0001c0001t0002g0095a0001c0007t0012g0005others(16): Show | 20 | 348 | 0.0575 | 5 | c.655 others(22): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
DSTYK_chr1_205137505_205216702 | 205202117 | G | GGGGAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp2 others(40): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0002g0033a0001c0001t0004g0001a0001c0001t0004g0015others(39): Show | 43 | 348 | 0.1236 | 5 | c.265 others(22): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
DSTYK_chr1_205137505_205216702 | 205203546 | A | AAGGGG | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02004.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0028others(2): Show | a0001c0001t0003g0223a0001c0001t0003g0225a0001c0001t0003g0228others(21): Show | 24 | 348 | 0.0690 | 5 | c.265 others(22): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
DSTYK_chr1_205137505_205216702 | 205207755 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007a0001c0002t0018 | a0001c0002t0001g0285a0001c0002t0007g0309a0001c0002t0007g0310others(3): Show | 6 | 348 | 0.0172 | 5 | c.265 others(22): Show |
DSTYK | ENSG00000133059.18 | transcript | ENST00000367162.8 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56542428 | T | TAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG03098.hp2 others(3): Show |
a0003a0006a0014others(1): Show | a0003c0004a0006c0007a0014c0011others(1): Show | a0003c0004t0001a0006c0007t0001a0014c0011t0001others(1): Show | a0003c0004t0001g0024a0006c0007t0001g0013a0006c0007t0001g0014others(3): Show | 6 | 84 | 0.0714 | 5 | c.166 others(26): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 61/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56611384 | T | TAAGTA | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01069.hp1 others(38): Show |
a0002a0003a0004others(23): Show | a0002c0002a0003c0004a0004c0003others(25): Show | a0002c0002t0001a0003c0004t0001a0004c0003t0001others(26): Show | a0002c0002t0001g0065a0002c0002t0001g0066a0002c0002t0001g0067others(38): Show | 41 | 84 | 0.4881 | 5 | c.514 others(22): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 38/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56694216 | T | TAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG02683.hp2 NA20129.hp1 others(2): Show |
a0001a0011a0020others(1): Show | a0001c0005a0011c0015a0020c0022others(1): Show | a0001c0005t0001a0011c0015t0001a0020c0022t0001others(1): Show | a0001c0005t0001g0032a0001c0005t0001g0080a0011c0015t0001g0058others(2): Show | 5 | 84 | 0.0595 | 5 | c.104 others(24): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 9/103 | chr6 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56812109 | A | AAAAAG | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01069.hp1 others(13): Show |
a0001a0002a0004others(8): Show | a0001c0001a0002c0002a0004c0003others(8): Show | a0001c0001t0001a0002c0002t0001a0004c0003t0001others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0035a0002c0002t0001g0067others(13): Show | 16 | 84 | 0.1905 | 5 | c.625 others(24): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar |