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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEFB4A_chr8_7889677_7901716 | 7896714 | C | G | splice_region_variant | LOW | HG00741.hp1 HG01891.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0003a0001c0003t0002g0006 | 6 | 94 | 0.0638 | 0 | c.*10 others(4): Show |
DEFB4A | ENSG00000171711.3 | transcript | ENST00000302247.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
DEFB4B_chr8_7409855_7421863 | 7414857 | G | C | splice_region_variant | LOW | HG00280.hp2 HG01069.hp2 HG01243.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005a0001c0002t0002g0010a0001c0002t0002g0013others(2): Show | 19 | 142 | 0.1338 | 0 | c.*10 others(4): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
DELE1_chr5_141918871_141947047 | 141925405 | T | A | splice_region_variant others(1): Show |
LOW | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 368 | 0.0027 | 0 | c.147 others(5): Show |
DELE1 | ENSG00000081791.9 | transcript | ENST00000432126.7 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
DENND10_chr10_119099113_119142984 | 119104196 | C | G | missense_variant others(1): Show |
MODERATE | HG02523.hp1 NA18747.hp1 NA18953.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0009 | a0003c0003t0003g0166a0003c0003t0003g0167a0003c0003t0003g0168others(7): Show | 10 | 374 | 0.0267 | 0 | c.54C others(2): Show |
p.Ile others(5): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 1/9 | 84/2441 | 54/1074 | 18/357 | chr10 | TogoVar | ||
DENND10_chr10_119099113_119142984 | 119117512 | C | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02055.hp1 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0110a0001c0001t0001g0111others(7): Show | 10 | 374 | 0.0267 | 0 | c.333 others(5): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
DENND10_chr10_119099113_119142984 | 119129510 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0007others(66): Show | 94 | 374 | 0.2513 | 0 | c.695 others(5): Show |
DENND10 | ENSG00000119979.18 | transcript | ENST00000361432.3 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
DENND11_chr7_141651728_141707166 | 141674227 | A | G | splice_region_variant others(1): Show |
LOW | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0266 | 1 | 345 | 0.0029 | 0 | c.528 others(5): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 3/8 | chr7 | TogoVar | ||||||
DENND1A_chr9_123374658_123935126 | 123383918 | C | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(135): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0013others(135): Show | 138 | 162 | 0.8519 | 0 | c.176 others(6): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 22/23 | chr9 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197607177 | A | AT | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0059others(270): Show | 274 | 280 | 0.9786 | 1 | c.820 others(6): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197715081 | A | T | splice_region_variant others(1): Show |
LOW | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 280 | 0.0036 | 0 | c.83- others(4): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6476849 | C | T | splice_region_variant others(1): Show |
LOW | NA18612.hp2 NA18945.hp2 NA18955.hp1 others(2): Show |
a0001a0017 | a0001c0001a0001c0027a0017c0024 | a0001c0001t0001a0001c0027t0001a0017c0024t0001 | a0001c0001t0001g0081a0001c0001t0001g0092a0001c0001t0001g0247others(2): Show | 5 | 420 | 0.0119 | 0 | c.678 others(5): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 10/22 | chr19 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6478856 | T | G | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
a0001a0002a0015 | a0001c0002a0001c0012a0002c0003others(2): Show | a0001c0002t0001a0001c0012t0001a0002c0003t0001others(2): Show | a0001c0002t0001g0304a0001c0012t0001g0069a0002c0003t0001g0027others(9): Show | 13 | 420 | 0.0310 | 0 | c.297 others(5): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 5/22 | chr19 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6479059 | G | C | splice_region_variant others(1): Show |
LOW | HG01934.hp2 | a0010 | a0010c0031 | a0010c0031t0002 | a0010c0031t0002g0348 | 1 | 420 | 0.0024 | 0 | c.177 others(5): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 4/22 | chr19 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6479060 | G | A | splice_region_variant others(1): Show |
LOW | HG01934.hp2 | a0010 | a0010c0031 | a0010c0031t0002 | a0010c0031t0002g0348 | 1 | 420 | 0.0024 | 0 | c.177 others(5): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 4/22 | chr19 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6479061 | A | C | splice_region_variant others(1): Show |
LOW | HG01934.hp2 | a0010 | a0010c0031 | a0010c0031t0002 | a0010c0031t0002g0348 | 1 | 420 | 0.0024 | 0 | c.177 others(5): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 4/22 | chr19 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6479063 | T | A | splice_region_variant others(1): Show |
LOW | HG01934.hp2 | a0010 | a0010c0031 | a0010c0031t0002 | a0010c0031t0002g0348 | 1 | 420 | 0.0024 | 0 | c.177 others(5): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 4/22 | chr19 | TogoVar | ||||||
DENND1C_chr19_6462207_6486787 | 6479064 | G | C | splice_region_variant others(1): Show |
LOW | HG01934.hp2 | a0010 | a0010c0031 | a0010c0031t0002 | a0010c0031t0002g0348 | 1 | 420 | 0.0024 | 0 | c.177 others(5): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 4/22 | chr19 | TogoVar | ||||||
DENND2A_chr7_140513420_140645813 | 140519627 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00738.hp1 HG01169.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0003a0001c0003t0003a0003c0006t0003others(1): Show | a0001c0001t0003g0136a0001c0001t0003g0137a0001c0001t0003g0213others(6): Show | 9 | 254 | 0.0354 | 0 | c.299 others(6): Show |
DENND2A | ENSG00000146966.13 | transcript | ENST00000496613.6 | protein_coding | 19/19 | chr7 | TogoVar | ||||||
DENND2A_chr7_140513420_140645813 | 140527493 | A | G | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00642.hp1 HG00738.hp1 others(45): Show |
a0003a0005a0008others(2): Show | a0003c0004a0003c0005a0003c0006others(14): Show | a0003c0004t0002a0003c0004t0003a0003c0004t0005others(20): Show | a0003c0004t0002g0029a0003c0004t0002g0074a0003c0004t0002g0214others(45): Show | 48 | 254 | 0.1890 | 0 | c.233 others(4): Show |
p.Ile others(6): Show |
DENND2A | ENSG00000146966.13 | transcript | ENST00000496613.6 | protein_coding | 15/20 | 2887/3874 | 2330/3030 | 777/1009 | chr7 | TogoVar | ||
DENND2B_chr11_8688352_8815674 | 8695456 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(119): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0035a0001c0001t0001g0038a0001c0001t0001g0060others(119): Show | 122 | 352 | 0.3466 | 0 | c.337 others(6): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 19/19 | chr11 | TogoVar | ||||||
DENND2B_chr11_8688352_8815674 | 8712738 | G | A | splice_region_variant others(1): Show |
LOW | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 352 | 0.0028 | 0 | c.198 others(6): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
DENND2B_chr11_8688352_8815674 | 8715824 | G | A | splice_region_variant others(1): Show |
LOW | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 352 | 0.0028 | 0 | c.163 others(6): Show |
DENND2B | ENSG00000166444.19 | transcript | ENST00000313726.11 | protein_coding | 5/19 | chr11 | TogoVar | ||||||
DENND2C_chr1_114577850_114675049 | 114587478 | A | G | splice_region_variant others(1): Show |
LOW | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0240 | 1 | 300 | 0.0033 | 0 | c.266 others(6): Show |
DENND2C | ENSG00000175984.16 | transcript | ENST00000393274.6 | protein_coding | 19/20 | chr1 | TogoVar | ||||||
DENND2C_chr1_114577850_114675049 | 114587713 | G | A | splice_region_variant others(1): Show |
LOW | HG03704.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0273 | 1 | 300 | 0.0033 | 0 | c.266 others(6): Show |
DENND2C | ENSG00000175984.16 | transcript | ENST00000393274.6 | protein_coding | 19/20 | chr1 | TogoVar | ||||||
DENND2C_chr1_114577850_114675049 | 114608881 | G | A | splice_region_variant others(1): Show |
LOW | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 300 | 0.0033 | 0 | c.137 others(6): Show |
DENND2C | ENSG00000175984.16 | transcript | ENST00000393274.6 | protein_coding | 9/20 | chr1 | TogoVar | ||||||
DENND2C_chr1_114577850_114675049 | 114654763 | T | TA | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG01192.hp1 HG01257.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0025others(4): Show | a0001c0001t0001g0084a0001c0001t0001g0119a0001c0001t0011g0002others(21): Show | 25 | 300 | 0.0833 | 1 | c.-57 others(7): Show |
DENND2C | ENSG00000175984.16 | transcript | ENST00000393274.6 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
DENND2C_chr1_114577850_114675049 | 114654763 | TA | T | splice_region_variant others(1): Show |
LOW | HG01496.hp1 HG03704.hp2 NA18942.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0097a0001c0001t0001g0135a0001c0001t0001g0146others(4): Show | 7 | 300 | 0.0233 | -1 | c.-57 others(7): Show |
DENND2C | ENSG00000175984.16 | transcript | ENST00000393274.6 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
DENND2C_chr1_114577850_114675049 | 114654763 | TAA | T | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02109.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0009a0001c0001t0019a0001c0001t0021others(3): Show | a0001c0001t0009g0014a0001c0001t0009g0016a0001c0001t0009g0017others(7): Show | 10 | 300 | 0.0333 | -2 | c.-57 others(15): Show |
DENND2C | ENSG00000175984.16 | transcript | ENST00000393274.6 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
DENND2D_chr1_111180969_111205646 | 111188696 | A | T | splice_region_variant others(1): Show |
LOW | HG01192.hp1 HG01256.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037a0001c0001t0003g0047a0001c0001t0003g0100others(2): Show | 7 | 472 | 0.0148 | 0 | c.109 others(6): Show |
DENND2D | ENSG00000162777.17 | transcript | ENST00000357640.9 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
DENND2D_chr1_111180969_111205646 | 111196062 | G | C | splice_region_variant others(1): Show |
LOW | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 472 | 0.0021 | 0 | c.505 others(5): Show |
DENND2D | ENSG00000162777.17 | transcript | ENST00000357640.9 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
DENND3_chr8_141123589_141200804 | 141160785 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(128): Show |
a0001a0003a0005others(3): Show | a0001c0004a0001c0006a0001c0007others(22): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0021others(27): Show | a0001c0004t0001g0206a0001c0004t0001g0207a0001c0004t0001g0208others(124): Show | 131 | 390 | 0.3359 | 0 | c.135 others(4): Show |
p.Phe others(6): Show |
DENND3 | ENSG00000105339.11 | transcript | ENST00000519811.6 | protein_coding | 9/23 | 1469/5527 | 1350/3837 | 450/1278 | chr8 | TogoVar | ||
DENND3_chr8_141123589_141200804 | 141178060 | G | A | splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG02922.hp1 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0009a0002c0001a0002c0022others(1): Show | a0001c0009t0002a0001c0009t0003a0002c0001t0001others(3): Show | a0001c0009t0002g0352a0001c0009t0003g0295a0002c0001t0001g0064others(3): Show | 6 | 390 | 0.0154 | 0 | c.270 others(6): Show |
DENND3 | ENSG00000105339.11 | transcript | ENST00000519811.6 | protein_coding | 15/22 | chr8 | TogoVar | ||||||
DENND3_chr8_141123589_141200804 | 141185136 | T | C | splice_region_variant others(1): Show |
LOW | HG03831.hp1 | a0002 | a0002c0052 | a0002c0052t0001 | a0002c0052t0001g0149 | 1 | 390 | 0.0026 | 0 | c.294 others(6): Show |
DENND3 | ENSG00000105339.11 | transcript | ENST00000519811.6 | protein_coding | 17/22 | chr8 | TogoVar | ||||||
DENND3_chr8_141123589_141200804 | 141194035 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 | a0007 | a0007c0076 | a0007c0076t0001 | a0007c0076t0001g0342 | 1 | 390 | 0.0026 | 0 | c.363 others(4): Show |
p.Val others(7): Show |
DENND3 | ENSG00000105339.11 | transcript | ENST00000519811.6 | protein_coding | 23/23 | 3758/5527 | 3639/3837 | 1213/1278 | chr8 | TogoVar | ||
DENND4A_chr15_65654123_65797293 | 65665467 | GT | G | splice_region_variant others(1): Show |
LOW | HG02630.hp2 HG02723.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0018a0001c0004t0051 | a0001c0004t0018g0193a0001c0004t0018g0194a0001c0004t0018g0196others(2): Show | 5 | 304 | 0.0165 | -1 | c.524 others(7): Show |
DENND4A | ENSG00000174485.16 | transcript | ENST00000443035.8 | protein_coding | 29/32 | chr15 | TogoVar | ||||||
DENND4A_chr15_65654123_65797293 | 65671783 | AAAG | A | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG01192.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201a0001c0001t0003g0239a0001c0001t0003g0264 | 3 | 304 | 0.0099 | -3 | c.446 others(16): Show |
DENND4A | ENSG00000174485.16 | transcript | ENST00000443035.8 | protein_coding | 25/32 | chr15 | TogoVar | ||||||
DENND4A_chr15_65654123_65797293 | 65697391 | A | G | splice_region_variant others(1): Show |
LOW | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0225 | 1 | 304 | 0.0033 | 0 | c.283 others(6): Show |
DENND4A | ENSG00000174485.16 | transcript | ENST00000443035.8 | protein_coding | 20/32 | chr15 | TogoVar | ||||||
DENND4B_chr1_153924501_153951718 | 153937726 | G | A | splice_region_variant others(1): Show |
LOW | NA18990.hp2 NA19000.hp1 NA19011.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0079a0001c0008t0001g0087a0001c0008t0001g0092 | 3 | 386 | 0.0078 | 0 | c.210 others(4): Show |
p.Tyr others(6): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 14/28 | 2544/5728 | 2103/4491 | 701/1496 | chr1 | TogoVar | ||
DENND4B_chr1_153924501_153951718 | 153941223 | T | G | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(118): Show |
a0002a0004a0007 | a0002c0002a0002c0006a0002c0009others(3): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0006a0002c0002t0001g0007others(39): Show | 121 | 386 | 0.3135 | 0 | c.118 others(6): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 8/27 | chr1 | TogoVar | ||||||
DENND4B_chr1_153924501_153951718 | 153941294 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(318): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(105): Show | 321 | 386 | 0.8316 | 0 | c.112 others(6): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 7/27 | chr1 | TogoVar | ||||||
DENND4C_chr9_19225693_19379281 | 19290700 | A | C | splice_region_variant others(1): Show |
LOW | HG02723.hp1 | a0025 | a0025c0031 | a0025c0031t0002 | a0025c0031t0002g0078 | 1 | 292 | 0.0034 | 0 | c.629 others(5): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 4/32 | chr9 | TogoVar | ||||||
DENND4C_chr9_19225693_19379281 | 19316846 | A | C | splice_region_variant others(1): Show |
LOW | HG02723.hp1 | a0025 | a0025c0031 | a0025c0031t0002 | a0025c0031t0002g0078 | 1 | 292 | 0.0034 | 0 | c.180 others(6): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 12/32 | chr9 | TogoVar | ||||||
DENND4C_chr9_19225693_19379281 | 19328022 | T | A | splice_region_variant others(1): Show |
LOW | HG02717.hp1 | a0011 | a0011c0013 | a0011c0013t0022 | a0011c0013t0022g0145 | 1 | 292 | 0.0034 | 0 | c.212 others(6): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 15/32 | chr9 | TogoVar | ||||||
DENND5A_chr11_9133825_9270350 | 9179071 | C | T | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG02922.hp1 HG03098.hp2 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0035a0001c0004t0003g0036a0001c0004t0003g0037others(4): Show | 7 | 284 | 0.0247 | 0 | c.145 others(4): Show |
p.Leu others(6): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 7/23 | 1739/4991 | 1458/3864 | 486/1287 | chr11 | TogoVar | ||
DENND5B_chr12_31377226_31596136 | 31402494 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00621.hp1 HG02040.hp2 others(12): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0003a0006c0013t0003 | a0001c0001t0003g0232a0001c0001t0003g0236a0001c0001t0003g0237others(12): Show | 15 | 308 | 0.0487 | 0 | c.294 others(6): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 15/20 | chr12 | TogoVar | ||||||
DENND6A_chr3_57620454_57698077 | 57630920 | C | A | splice_region_variant others(1): Show |
LOW | HG01255.hp2 HG01891.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0275a0001c0003t0008g0276a0001c0003t0008g0285others(1): Show | 4 | 332 | 0.0121 | 0 | c.140 others(6): Show |
DENND6A | ENSG00000174839.13 | transcript | ENST00000311128.10 | protein_coding | 16/19 | chr3 | TogoVar | ||||||
DENND6B_chr22_50304030_50332012 | 50312623 | C | T | missense_variant others(1): Show |
MODERATE | HG03017.hp1 | a0007 | a0007c0022 | a0007c0022t0001 | a0007c0022t0001g0221 | 1 | 326 | 0.0031 | 0 | c.146 others(4): Show |
p.Arg others(6): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 18/20 | 1484/4891 | 1460/1758 | 487/585 | chr22 | TogoVar | ||
DENND6B_chr22_50304030_50332012 | 50315773 | AGAG | A | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02109.hp1 HG02145.hp1 others(21): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0004a0001c0004t0026 | a0001c0004t0003g0171a0001c0004t0004g0168a0001c0004t0004g0170others(21): Show | 24 | 326 | 0.0736 | -3 | c.703 others(14): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 8/19 | chr22 | TogoVar | ||||||
DENND6B_chr22_50304030_50332012 | 50315774 | G | C | splice_region_variant others(1): Show |
LOW | HG01255.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091a0001c0001t0003g0097a0001c0001t0003g0124others(3): Show | 6 | 326 | 0.0184 | 0 | c.703 others(5): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 8/19 | chr22 | TogoVar | ||||||
DENND6B_chr22_50304030_50332012 | 50318023 | A | G | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02071.hp1 HG02109.hp1 others(30): Show |
a0001a0009 | a0001c0004a0001c0006a0009c0023 | a0001c0004t0003a0001c0004t0004a0001c0004t0026others(3): Show | a0001c0004t0003g0171a0001c0004t0004g0168a0001c0004t0004g0170others(30): Show | 33 | 326 | 0.1012 | 0 | c.260 others(5): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 3/19 | chr22 | TogoVar |