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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLC1_chr8_13078361_13519851 | 13098580 | G | C | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG03579.hp2 |
a0001a0006 | a0001c0011a0006c0032 | a0001c0011t0003a0006c0032t0005 | a0001c0011t0003g0007a0006c0032t0005g0159 | 2 | 212 | 0.0094 | 0 | c.299 others(6): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 9/17 | chr8 | TogoVar | ||||||
DLD_chr7_107886183_107926198 | 107905354 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(312): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(185): Show | 315 | 406 | 0.7759 | 0 | c.439 others(5): Show |
DLD | ENSG00000091140.15 | transcript | ENST00000205402.10 | protein_coding | 6/13 | chr7 | TogoVar | ||||||
DLD_chr7_107886183_107926198 | 107906375 | G | A | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02280.hp1 HG02280.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0004g0059a0001c0001t0004g0061a0001c0001t0004g0064others(14): Show | 24 | 406 | 0.0591 | 0 | c.684 others(5): Show |
DLD | ENSG00000091140.15 | transcript | ENST00000205402.10 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
DLD_chr7_107886183_107926198 | 107918060 | C | T | missense_variant others(1): Show |
MODERATE | HG03239.hp2 | a0007 | a0007c0013 | a0007c0013t0003 | a0007c0013t0003g0046 | 1 | 406 | 0.0025 | 0 | c.137 others(4): Show |
p.Pro others(6): Show |
DLD | ENSG00000091140.15 | transcript | ENST00000205402.10 | protein_coding | 12/14 | 1441/3537 | 1373/1530 | 458/509 | chr7 | TogoVar | ||
DLEC1_chr3_38034208_38129025 | 38093599 | T | G | splice_region_variant others(1): Show |
LOW | HG03669.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0079 | 1 | 298 | 0.0034 | 0 | c.175 others(6): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 11/36 | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38112369 | T | C | splice_region_variant others(1): Show |
LOW | HG03195.hp1 NA20300.hp2 |
a0014a0019 | a0014c0053a0019c0036 | a0014c0053t0003a0019c0036t0003 | a0014c0053t0003g0112a0019c0036t0003g0009 | 2 | 298 | 0.0067 | 0 | c.366 others(6): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 25/36 | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38120613 | C | T | splice_region_variant others(1): Show |
LOW | HG02015.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0108 | 1 | 298 | 0.0034 | 0 | c.486 others(6): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 34/36 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197140272 | T | C | splice_region_variant others(1): Show |
LOW | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 332 | 0.0030 | 0 | c.589 others(5): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
DLG3_chrX_70439835_70510490 | 70451858 | T | TA | splice_region_variant others(1): Show |
LOW | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | 1 | c.986 others(12): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 6/18 | chrX | TogoVar | ||||||
DLG3_chrX_70439835_70510490 | 70451861 | T | G | splice_region_variant others(1): Show |
LOW | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | 0 | c.986 others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 6/18 | chrX | TogoVar | ||||||
DLG3_chrX_70439835_70510490 | 70451863 | C | T | splice_region_variant others(1): Show |
LOW | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | 0 | c.986 others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 6/18 | chrX | TogoVar | ||||||
DLG3_chrX_70439835_70510490 | 70451864 | C | A | splice_region_variant others(1): Show |
LOW | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | 0 | c.986 others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 6/18 | chrX | TogoVar | ||||||
DLG3_chrX_70439835_70510490 | 70451867 | C | A | missense_variant others(1): Show |
MODERATE | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | 0 | c.986 others(3): Show |
p.Thr others(6): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 7/19 | 1353/6042 | 986/2454 | 329/817 | chrX | TogoVar | ||
DLG3_chrX_70439835_70510490 | 70451869 | T | G | missense_variant others(1): Show |
MODERATE | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | 0 | c.988 others(3): Show |
p.Phe others(6): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 7/19 | 1355/6042 | 988/2454 | 330/817 | chrX | TogoVar | ||
DLG3_chrX_70439835_70510490 | 70453628 | TC | T | splice_region_variant others(1): Show |
LOW | NA18988.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0129 | 1 | 278 | 0.0036 | -1 | c.114 others(7): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DLG4_chr17_7182187_7222627 | 7193879 | G | T | splice_region_variant others(1): Show |
LOW | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 376 | 0.0027 | 0 | c.151 others(6): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 13/19 | chr17 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77806926 | G | A | missense_variant others(1): Show |
MODERATE | HG02486.hp1 HG02809.hp1 HG02818.hp2 others(2): Show |
a0005a0015 | a0005c0013a0015c0043 | a0005c0013t0010a0005c0013t0011a0015c0043t0016 | a0005c0013t0010g0014a0005c0013t0010g0015a0005c0013t0011g0189others(2): Show | 5 | 331 | 0.0151 | 0 | c.479 others(4): Show |
p.Ala others(7): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 26/32 | 5034/7644 | 4799/5760 | 1600/1919 | chr10 | TogoVar | ||
DLG5_chr10_77785791_77931755 | 77817894 | G | A | splice_region_variant others(1): Show |
LOW | HG02896.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0162 | 1 | 331 | 0.0030 | 0 | c.367 others(6): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 17/31 | chr10 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77819464 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(84): Show |
a0001a0003a0007others(5): Show | a0001c0002a0001c0008a0001c0021others(14): Show | a0001c0002t0002a0001c0002t0015a0001c0002t0017others(17): Show | a0001c0002t0002g0042a0001c0002t0002g0099a0001c0002t0002g0120others(84): Show | 87 | 331 | 0.2628 | 0 | c.352 others(4): Show |
p.Gly others(7): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 17/32 | 3763/7644 | 3528/5760 | 1176/1919 | chr10 | TogoVar | ||
DLG5_chr10_77785791_77931755 | 77835730 | C | T | splice_region_variant others(1): Show |
LOW | HG02818.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0103a0001c0007t0001g0107a0001c0007t0001g0191others(1): Show | 4 | 331 | 0.0121 | 0 | c.162 others(6): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 8/31 | chr10 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77869203 | G | A | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(42): Show |
a0001a0002a0013others(3): Show | a0001c0005a0001c0049a0002c0004others(6): Show | a0001c0005t0001a0001c0049t0001a0002c0004t0004others(9): Show | a0001c0005t0001g0124a0001c0005t0001g0163a0001c0005t0001g0165others(42): Show | 45 | 331 | 0.1360 | 0 | c.305 others(5): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3729136 | C | T | splice_region_variant others(1): Show |
LOW | HG01496.hp2 | a0001 | a0001c0009 | a0001c0009t0026 | a0001c0009t0026g0041 | 1 | 80 | 0.0125 | 0 | c.159 others(4): Show |
p.Thr others(6): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/13 | 2158/6655 | 1590/2934 | 530/977 | chr18 | TogoVar | ||
DLGAP1_chr18_3491032_4460307 | 3729378 | G | A | splice_region_variant others(1): Show |
LOW | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0007 | 1 | 80 | 0.0125 | 0 | c.135 others(6): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 6/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1548622 | A | G | splice_region_variant others(1): Show |
LOW | HG01071.hp2 HG01361.hp1 HG01496.hp1 others(13): Show |
a0001a0002 | a0001c0003a0001c0009a0002c0001others(2): Show | a0001c0003t0014a0001c0003t0024a0001c0009t0012others(12): Show | a0001c0003t0014g0020a0001c0003t0024g0003a0001c0009t0012g0006others(13): Show | 16 | 40 | 0.4000 | 0 | c.173 others(5): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1678207 | T | G | splice_region_variant others(1): Show |
LOW | HG02647.hp2 HG03486.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0005 | a0002c0001t0002g0013a0002c0001t0005g0035 | 2 | 40 | 0.0500 | 0 | c.228 others(6): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 11/14 | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34884972 | CT | C | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG01192.hp1 HG01257.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0003t0001a0002c0007t0001 | a0001c0001t0001g0002a0001c0001t0001g0093a0001c0001t0001g0094others(12): Show | 16 | 266 | 0.0602 | -1 | c.200 others(7): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36439871 | G | A | splice_region_variant others(1): Show |
LOW | HG02896.hp1 HG03195.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0026 | a0001c0005t0001g0042a0001c0005t0026g0003 | 2 | 144 | 0.0139 | 0 | c.135 others(6): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 5/12 | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36446936 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0049 | 1 | 144 | 0.0069 | 0 | c.164 others(4): Show |
p.Pro others(6): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/13 | 2124/5058 | 1647/2979 | 549/992 | chr20 | TogoVar | ||
DLGAP5_chr14_55143135_55196585 | 55169391 | C | T | splice_region_variant others(1): Show |
LOW | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 362 | 0.0028 | 0 | c.154 others(6): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 12/18 | chr14 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55177055 | T | G | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG01175.hp2 HG02257.hp1 others(3): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0166a0005c0007t0001g0167a0005c0007t0001g0168others(3): Show | 6 | 362 | 0.0166 | 0 | c.104 others(6): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55177056 | T | G | splice_region_variant others(1): Show |
LOW | HG00597.hp1 HG00735.hp1 HG01070.hp1 others(38): Show |
a0003 | a0003c0005a0003c0012 | a0003c0005t0001a0003c0005t0002a0003c0012t0002 | a0003c0005t0001g0016a0003c0005t0001g0284a0003c0005t0002g0305others(37): Show | 41 | 362 | 0.1133 | 0 | c.104 others(6): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55179703 | AAAC | A | splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG03195.hp2 HG03486.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046a0002c0002t0001g0047a0002c0002t0001g0085others(1): Show | 4 | 362 | 0.0111 | -3 | c.704 others(14): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 6/18 | chr14 | TogoVar | ||||||
DLK1_chr14_100721892_100743224 | 100732181 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0001 | 1 | 424 | 0.0024 | 0 | c.402 others(3): Show |
p.Asn others(6): Show |
DLK1 | ENSG00000185559.16 | transcript | ENST00000341267.9 | protein_coding | 4/5 | 579/4657 | 402/1152 | 134/383 | chr14 | TogoVar | ||
DLK1_chr14_100721892_100743224 | 100732182 | G | A | missense_variant others(1): Show |
MODERATE | HG00099.hp1 | a0010 | a0010c0013 | a0010c0013t0009 | a0010c0013t0009g0013 | 1 | 424 | 0.0024 | 0 | c.403 others(3): Show |
p.Gly others(6): Show |
DLK1 | ENSG00000185559.16 | transcript | ENST00000341267.9 | protein_coding | 4/5 | 580/4657 | 403/1152 | 135/383 | chr14 | TogoVar | ||
DLL1_chr6_170277206_170296078 | 170285141 | C | T | splice_region_variant others(1): Show |
LOW | NA19012.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0050 | 1 | 413 | 0.0024 | 0 | c.103 others(6): Show |
DLL1 | ENSG00000198719.9 | transcript | ENST00000366756.4 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39504071 | T | C | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(273): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0008a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(118): Show | 276 | 428 | 0.6449 | 0 | c.653 others(3): Show |
p.Leu others(6): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 5/9 | 681/2004 | 653/1764 | 218/587 | chr19 | TogoVar | ||
DLL4_chr15_40924340_40944073 | 40935116 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG01981.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0003a0001c0004t0003g0007 | 2 | 370 | 0.0054 | 0 | c.123 others(4): Show |
p.Asn others(6): Show |
DLL4 | ENSG00000128917.8 | transcript | ENST00000249749.7 | protein_coding | 8/11 | 1568/3426 | 1239/2058 | 413/685 | chr15 | TogoVar | ||
DLX3_chr17_49985005_50000224 | 49994667 | C | T | splice_region_variant others(1): Show |
LOW | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 438 | 0.0023 | 0 | c.325 others(5): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
DMAC1_chr9_7791500_7804778 | 7798636 | G | T | missense_variant others(1): Show |
MODERATE | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0020 | a0004c0005t0020g0045 | 1 | 474 | 0.0021 | 0 | c.276 others(3): Show |
p.Ser others(5): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 2/2 | 320/2456 | 276/339 | 92/112 | chr9 | TogoVar | ||
DMAC1_chr9_7791500_7804778 | 7798637 | C | T | missense_variant others(1): Show |
MODERATE | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0020 | a0004c0005t0020g0045 | 1 | 474 | 0.0021 | 0 | c.275 others(3): Show |
p.Ser others(5): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 2/2 | 319/2456 | 275/339 | 92/112 | chr9 | TogoVar | ||
DMAC1_chr9_7791500_7804778 | 7798642 | A | T | splice_region_variant others(1): Show |
LOW | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0020 | a0004c0005t0020g0045 | 1 | 474 | 0.0021 | 0 | c.275 others(5): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DMAC1_chr9_7791500_7804778 | 7798644 | A | G | splice_region_variant others(1): Show |
LOW | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0020 | a0004c0005t0020g0045 | 1 | 474 | 0.0021 | 0 | c.275 others(5): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DMAC1_chr9_7791500_7804778 | 7798645 | A | G | splice_region_variant others(1): Show |
LOW | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0020 | a0004c0005t0020g0045 | 1 | 474 | 0.0021 | 0 | c.275 others(5): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DMAC2L_chr14_50307324_50332957 | 50314626 | G | T | splice_region_variant | LOW | HG01943.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0041 | a0001c0001t0040g0081a0001c0001t0041g0080 | 2 | 400 | 0.0050 | 0 | c.-6G others(2): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
DMAC2_chr19_41426318_41444912 | 41433432 | G | A | missense_variant others(1): Show |
MODERATE | HG00733.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0146 | 1 | 426 | 0.0024 | 0 | c.436 others(3): Show |
p.Arg others(6): Show |
DMAC2 | ENSG00000105341.19 | transcript | ENST00000221943.14 | protein_coding | 5/6 | 449/1700 | 436/774 | 146/257 | chr19 | TogoVar | ||
DMAP1_chr1_44208471_44225673 | 44214903 | G | A | splice_region_variant others(1): Show |
LOW | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 408 | 0.0025 | 0 | c.393 others(5): Show |
DMAP1 | ENSG00000178028.14 | transcript | ENST00000372289.7 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
DMAP1_chr1_44208471_44225673 | 44219457 | GTCACGCT others(17): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18994.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0040 | 1 | 408 | 0.0025 | -24 | c.959 others(33): Show |
p.Val others(5): Show |
DMAP1 | ENSG00000178028.14 | transcript | ENST00000372289.7 | protein_coding | 7/10 | 1242/1742 | 959/1404 | 320/467 | chr1 | TogoVar | ||
DMAP1_chr1_44208471_44225673 | 44220312 | A | G | splice_region_variant others(1): Show |
LOW | HG03540.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 408 | 0.0049 | 0 | c.134 others(6): Show |
DMAP1 | ENSG00000178028.14 | transcript | ENST00000372289.7 | protein_coding | 9/9 | chr1 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122560839 | G | A | splice_region_variant others(1): Show |
LOW | HG00673.hp1 HG02027.hp1 HG02129.hp2 others(21): Show |
a0002a0044a0047others(3): Show | a0002c0002a0002c0095a0002c0099others(5): Show | a0002c0002t0001a0002c0095t0001a0002c0099t0002others(5): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0017others(19): Show | 24 | 282 | 0.0851 | 0 | c.61+ others(4): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1/55 | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122565996 | G | A | missense_variant others(1): Show |
MODERATE | HG02451.hp2 HG02738.hp1 HG02809.hp1 others(6): Show |
a0015a0090a0091others(2): Show | a0015c0014a0015c0044a0090c0046others(3): Show | a0015c0014t0001a0015c0044t0002a0090c0046t0001others(3): Show | a0015c0014t0001g0087a0015c0014t0001g0089a0015c0014t0001g0112others(6): Show | 9 | 282 | 0.0319 | 0 | c.91G others(2): Show |
p.Ala others(5): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 2/56 | 108/7984 | 91/7629 | 31/2542 | chr10 | TogoVar |