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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DUOXA1_chr15_45112366_45134879 | 45122249 | C | T | splice_region_variant others(1): Show |
LOW | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 396 | 0.0025 | 0 | c.148 others(5): Show |
DUOXA1 | ENSG00000140254.13 | transcript | ENST00000560572.6 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
DUOXA2_chr15_45109326_45123421 | 45116512 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(26): Show | 339 | 370 | 0.9162 | 0 | c.341 others(5): Show |
DUOXA2 | ENSG00000140274.14 | transcript | ENST00000323030.6 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
DUOXA2_chr15_45109326_45123421 | 45116735 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(12): Show | 265 | 370 | 0.7162 | 0 | c.554 others(5): Show |
DUOXA2 | ENSG00000140274.14 | transcript | ENST00000323030.6 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
DUOXA2_chr15_45109326_45123421 | 45117303 | C | T | missense_variant others(1): Show |
MODERATE | NA18940.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0001 | 1 | 370 | 0.0027 | 0 | c.767 others(3): Show |
p.Thr others(6): Show |
DUOXA2 | ENSG00000140274.14 | transcript | ENST00000323030.6 | protein_coding | 5/6 | 1047/1755 | 767/963 | 256/320 | chr15 | TogoVar | ||
DUS2_chr16_68018284_68084320 | 68066558 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(153): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0053a0001c0001t0001g0063others(148): Show | 156 | 234 | 0.6667 | 0 | c.484 others(5): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 9/16 | chr16 | TogoVar | ||||||
DUS2_chr16_68018284_68084320 | 68071108 | C | T | splice_region_variant others(1): Show |
LOW | HG03927.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0080 | 1 | 234 | 0.0043 | 0 | c.810 others(3): Show |
p.Tyr others(6): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 12/17 | 976/1982 | 810/1482 | 270/493 | chr16 | TogoVar | ||
DUS2_chr16_68018284_68084320 | 68078744 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 234 | 0.0043 | 0 | c.124 others(6): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 16/16 | chr16 | TogoVar | ||||||
DUS3L_chr19_5780140_5796163 | 5787178 | G | A | splice_region_variant others(1): Show |
LOW | HG01934.hp2 HG03834.hp2 NA18941.hp1 |
a0001a0002a0008 | a0001c0021a0002c0001a0008c0020 | a0001c0021t0001a0002c0001t0002a0008c0020t0001 | a0001c0021t0001g0102a0002c0001t0002g0041a0008c0020t0001g0101 | 3 | 364 | 0.0082 | 0 | c.127 others(6): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
DUS3L_chr19_5780140_5796163 | 5787584 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02572.hp2 HG02897.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0014others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0014t0004others(1): Show | a0001c0002t0001g0031a0001c0002t0001g0089a0001c0004t0001g0017others(3): Show | 9 | 364 | 0.0247 | 0 | c.121 others(6): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 6/12 | chr19 | TogoVar | ||||||
DUSP11_chr2_73757213_73785103 | 73766413 | G | C | splice_region_variant others(1): Show |
LOW | HG02723.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 2 | 386 | 0.0052 | 0 | c.794 others(5): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
DUSP11_chr2_73757213_73785103 | 73769332 | A | G | splice_region_variant others(1): Show |
LOW | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 386 | 0.0026 | 0 | c.434 others(5): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
DUSP11_chr2_73757213_73785103 | 73775051 | C | G | splice_region_variant others(1): Show |
LOW | HG02723.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 2 | 386 | 0.0052 | 0 | c.178 others(5): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
DUSP11_chr2_73757213_73785103 | 73778384 | A | T | splice_region_variant others(1): Show |
LOW | HG03017.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 386 | 0.0052 | 0 | c.102 others(5): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
DUSP13_chr10_75089436_75104512 | 75095568 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(188): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(28): Show | 191 | 404 | 0.4728 | 0 | c.802 others(5): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 3/3 | chr10 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37512174 | T | C | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00735.hp2 NA18612.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0341a0001c0001t0001g0376others(6): Show | 10 | 421 | 0.0238 | 0 | c.-92 others(5): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
DUSP15_chr20_31856077_31875527 | 31864945 | G | A | splice_region_variant others(1): Show |
LOW | HG00733.hp1 NA20129.hp1 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0042a0002c0002t0007g0119 | 3 | 378 | 0.0079 | 0 | c.188 others(5): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 4/6 | chr20 | TogoVar | ||||||
DUSP16_chr12_12468282_12567863 | 12473284 | T | C | splice_region_variant | LOW | HG02886.hp1 | a0004 | a0004c0006 | a0004c0006t0042 | a0004c0006t0042g0264 | 1 | 352 | 0.0028 | 0 | c.*35 others(5): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 7/7 | chr12 | TogoVar | ||||||
DUSP16_chr12_12468282_12567863 | 12480353 | A | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(86): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0025others(17): Show | a0001c0001t0003g0026a0001c0001t0003g0036a0001c0001t0005g0285others(83): Show | 89 | 352 | 0.2528 | 0 | c.692 others(5): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
DUSP16_chr12_12468282_12567863 | 12520007 | T | G | splice_region_variant others(1): Show |
LOW | HG02165.hp2 NA19089.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0007a0002c0002t0004g0322 | 2 | 352 | 0.0057 | 0 | c.229 others(5): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
DUSP18_chr22_30656445_30672875 | 30661444 | C | CT | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(58): Show | 191 | 448 | 0.4263 | 1 | c.*19 others(6): Show |
DUSP18 | ENSG00000167065.14 | transcript | ENST00000334679.4 | protein_coding | 2/2 | chr22 | TogoVar | ||||||
DUSP18_chr22_30656445_30672875 | 30661444 | CT | C | splice_region_variant | LOW | HG01099.hp1 HG02109.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0020a0001c0001t0042others(4): Show | a0001c0001t0018g0094a0001c0001t0018g0095a0001c0001t0018g0140others(7): Show | 11 | 448 | 0.0246 | -1 | c.*19 others(6): Show |
DUSP18 | ENSG00000167065.14 | transcript | ENST00000334679.4 | protein_coding | 2/2 | chr22 | TogoVar | ||||||
DUSP19_chr2_183073747_183105008 | 183095415 | G | GT | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG00621.hp2 HG00673.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0021a0001c0001t0001g0082a0001c0001t0002g0002others(39): Show | 70 | 328 | 0.2134 | 1 | c.427 others(6): Show |
DUSP19 | ENSG00000162999.13 | transcript | ENST00000354221.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DUSP19_chr2_183073747_183105008 | 183095431 | G | A | missense_variant others(1): Show |
MODERATE | NA18997.hp1 NA19056.hp2 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0088a0002c0002t0012g0099 | 2 | 328 | 0.0061 | 0 | c.427 others(3): Show |
p.Asp others(6): Show |
DUSP19 | ENSG00000162999.13 | transcript | ENST00000354221.5 | protein_coding | 4/4 | 614/5191 | 427/654 | 143/217 | chr2 | TogoVar | ||
DUSP1_chr5_172763096_172776195 | 172770578 | G | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0021others(4): Show | 94 | 462 | 0.2035 | 0 | c.367 others(5): Show |
DUSP1 | ENSG00000120129.6 | transcript | ENST00000239223.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
DUSP28_chr2_240555357_240570256 | 240565162 | GAATCACA others(1261): Show |
G | splice_region_variant | LOW | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0036 | a0001c0001t0009g0001a0001c0001t0036g0001 | 9 | 422 | 0.0213 | -1268 | c.*36 others(11): Show |
DUSP28 | ENSG00000188542.10 | transcript | ENST00000405954.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DUSP29_chr10_75032472_75078642 | 75043790 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00639.hp1 HG00642.hp2 others(66): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0010others(50): Show | 69 | 368 | 0.1875 | 0 | c.421 others(5): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 3/3 | chr10 | TogoVar | ||||||
DUSP29_chr10_75032472_75078642 | 75043793 | T | C | splice_region_variant others(1): Show |
LOW | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 368 | 0.0027 | 0 | c.421 others(5): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 3/3 | chr10 | TogoVar | ||||||
DUSP4_chr8_29328064_29355684 | 29340246 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00621.hp1 HG02132.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0034 | 5 | 392 | 0.0128 | 0 | c.434 others(5): Show |
DUSP4 | ENSG00000120875.9 | transcript | ENST00000240100.7 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
DUSP5_chr10_110492907_110516533 | 110502873 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG02280.hp1 HG02723.hp2 others(3): Show |
a0003a0007 | a0003c0004a0007c0012 | a0003c0004t0005a0003c0004t0011a0003c0004t0020others(1): Show | a0003c0004t0005g0086a0003c0004t0011g0017a0003c0004t0020g0017others(1): Show | 6 | 410 | 0.0146 | 0 | c.528 others(5): Show |
DUSP5 | ENSG00000138166.6 | transcript | ENST00000369583.4 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
DUSP8_chr11_1549051_1577271 | 1557788 | T | C | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01081.hp1 HG01255.hp2 others(9): Show |
a0001a0007 | a0001c0002a0007c0025 | a0001c0002t0005a0001c0002t0021a0007c0025t0005 | a0001c0002t0005g0009a0001c0002t0005g0024a0001c0002t0005g0054others(4): Show | 12 | 367 | 0.0327 | 0 | c.821 others(5): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 6/6 | chr11 | TogoVar | ||||||
DUSP8_chr11_1549051_1577271 | 1565938 | C | T | splice_region_variant others(1): Show |
LOW | HG01257.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 367 | 0.0055 | 0 | c.-10 others(6): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57154480 | C | T | missense_variant others(1): Show |
MODERATE | NA19043.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0349 | 1 | 446 | 0.0022 | 0 | c.547 others(3): Show |
p.Ala others(6): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 6/6 | 589/1048 | 547/615 | 183/204 | chr19 | TogoVar | ||
DUXA_chr19_57149021_57172485 | 57160635 | T | C | splice_region_variant others(1): Show |
LOW | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 446 | 0.0022 | 0 | c.180 others(5): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
DUXB_chr16_75688893_75706461 | 75696119 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 422 | 0.0024 | 0 | c.287 others(5): Show |
DUXB | ENSG00000282757.4 | transcript | ENST00000633875.4 | protein_coding | 3/4 | chr16 | TogoVar | ||||||
DVL1_chr1_1330278_1354418 | 1338189 | G | C | splice_region_variant others(1): Show |
LOW | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 344 | 0.0029 | 0 | c.150 others(6): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 13/14 | chr1 | TogoVar | ||||||
DVL1_chr1_1330278_1354418 | 1338651 | G | C | missense_variant others(1): Show |
MODERATE | NA18747.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0115 | 1 | 344 | 0.0029 | 0 | c.121 others(4): Show |
p.Leu others(6): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 12/15 | 1563/3305 | 1210/2088 | 404/695 | chr1 | TogoVar | ||
DVL1_chr1_1330278_1354418 | 1339820 | G | A | splice_region_variant others(1): Show |
LOW | HG03239.hp2 HG03669.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 344 | 0.0116 | 0 | c.910 others(5): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 8/14 | chr1 | TogoVar | ||||||
DVL1_chr1_1330278_1354418 | 1340503 | C | T | splice_region_variant others(1): Show |
LOW | HG03195.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0129 | 1 | 344 | 0.0029 | 0 | c.606 others(3): Show |
p.Arg others(6): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 6/15 | 959/3305 | 606/2088 | 202/695 | chr1 | TogoVar | ||
DVL1_chr1_1330278_1354418 | 1341659 | CCA | C | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02886.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 4 | 344 | 0.0116 | -2 | c.605 others(13): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 5/14 | chr1 | TogoVar | ||||||
DVL1_chr1_1330278_1354418 | 1341803 | C | T | missense_variant others(1): Show |
MODERATE | HG01109.hp2 HG02257.hp1 HG02258.hp2 others(19): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0004a0002c0002t0005a0002c0005t0003 | a0002c0002t0004g0009a0002c0002t0004g0062a0002c0002t0004g0063others(5): Show | 22 | 344 | 0.0640 | 0 | c.469 others(3): Show |
p.Ala others(6): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 5/15 | 822/3305 | 469/2088 | 157/695 | chr1 | TogoVar | ||
DVL1_chr1_1330278_1354418 | 1341804 | G | A | splice_region_variant others(1): Show |
LOW | NA18950.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0124 | 1 | 344 | 0.0029 | 0 | c.468 others(3): Show |
p.Ala others(6): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 5/15 | 821/3305 | 468/2088 | 156/695 | chr1 | TogoVar | ||
DVL1_chr1_1330278_1354418 | 1342355 | G | A | splice_region_variant others(1): Show |
LOW | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 344 | 0.0029 | 0 | c.362 others(5): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
DVL1_chr1_1330278_1354418 | 1342356 | T | A | splice_region_variant others(1): Show |
LOW | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 344 | 0.0029 | 0 | c.362 others(5): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
DVL2_chr17_7220342_7239517 | 7227647 | C | T | splice_region_variant others(1): Show |
LOW | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 406 | 0.0025 | 0 | c.123 others(6): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 11/14 | chr17 | TogoVar | ||||||
DVL2_chr17_7220342_7239517 | 7228052 | G | A | splice_region_variant others(1): Show |
LOW | HG02280.hp1 HG02451.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0039a0001c0003t0003g0065a0001c0003t0003g0112 | 4 | 406 | 0.0099 | 0 | c.103 others(6): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 9/14 | chr17 | TogoVar | ||||||
DVL3_chr3_184150377_184178614 | 184166530 | T | C | splice_region_variant others(1): Show |
LOW | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 400 | 0.0025 | 0 | c.980 others(5): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 9/14 | chr3 | TogoVar | ||||||
DVL3_chr3_184150377_184178614 | 184166827 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0009 | 1 | 400 | 0.0025 | 0 | c.105 others(4): Show |
p.Ser others(6): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 11/15 | 1309/5269 | 1050/2151 | 350/716 | chr3 | TogoVar | ||
DVL3_chr3_184150377_184178614 | 184167572 | A | C | splice_region_variant others(1): Show |
LOW | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 400 | 0.0025 | 0 | c.119 others(6): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
DVL3_chr3_184150377_184178614 | 184170227 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp2 HG01346.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0088 | 4 | 400 | 0.0100 | 0 | c.171 others(6): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
DVL3_chr3_184150377_184178614 | 184170315 | A | C | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01433.hp1 HG01891.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0042a0001c0001t0008g0013a0001c0001t0008g0047 | 7 | 400 | 0.0175 | 0 | c.171 others(6): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 14/14 | chr3 | TogoVar |