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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF37_chr5_149576498_149639968 | 149627077 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(127): Show |
a0001a0006a0009others(4): Show | a0001c0002a0001c0005a0001c0030others(7): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0006others(23): Show | a0001c0002t0004g0352a0001c0002t0005g0367a0001c0002t0005g0368others(119): Show | 130 | 394 | 0.3300 | 0 | c.146 others(4): Show |
p.Pro others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 11/13 | 1604/4943 | 1466/2028 | 489/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149627163 | A | C | missense_variant | MODERATE | HG00280.hp2 HG00438.hp1 HG00597.hp2 others(55): Show |
a0004a0018a0020 | a0004c0004a0004c0010a0004c0036others(2): Show | a0004c0004t0002a0004c0004t0004a0004c0004t0009others(10): Show | a0004c0004t0002g0228a0004c0004t0004g0006a0004c0004t0004g0013others(52): Show | 58 | 394 | 0.1472 | 0 | c.155 others(4): Show |
p.Ser others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 11/13 | 1690/4943 | 1552/2028 | 518/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149627164 | G | T | missense_variant | MODERATE | HG02132.hp1 HG03669.hp1 |
a0019 | a0019c0019 | a0019c0019t0002 | a0019c0019t0002g0283a0019c0019t0002g0288 | 2 | 394 | 0.0051 | 0 | c.155 others(4): Show |
p.Ser others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 11/13 | 1691/4943 | 1553/2028 | 518/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149628904 | C | A | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(71): Show |
a0003a0012a0014others(1): Show | a0003c0003a0003c0012a0003c0029others(3): Show | a0003c0003t0002a0003c0003t0008a0003c0003t0012others(8): Show | a0003c0003t0002g0007a0003c0003t0002g0010a0003c0003t0002g0012others(68): Show | 74 | 394 | 0.1878 | 0 | c.175 others(4): Show |
p.Pro others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 12/13 | 1894/4943 | 1756/2028 | 586/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149628914 | T | C | missense_variant | MODERATE | HG04204.hp1 | a0022 | a0022c0031 | a0022c0031t0001 | a0022c0031t0001g0077 | 1 | 394 | 0.0025 | 0 | c.176 others(4): Show |
p.Leu others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 12/13 | 1904/4943 | 1766/2028 | 589/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149628958 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show |
a0001a0003a0004others(16): Show | a0001c0002a0001c0005a0001c0030others(27): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0006others(60): Show | a0001c0002t0004g0352a0001c0002t0005g0367a0001c0002t0005g0368others(281): Show | 298 | 394 | 0.7564 | 0 | c.181 others(4): Show |
p.Met others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 12/13 | 1948/4943 | 1810/2028 | 604/675 | chr5 | TogoVar | ||
ARHGEF38_chr4_105547620_105685914 | 105552826 | T | C | missense_variant | MODERATE | HG02922.hp2 HG03130.hp2 HG03579.hp1 others(1): Show |
a0010a0011a0012others(1): Show | a0010c0016a0011c0015a0012c0013others(1): Show | a0010c0016t0022a0011c0015t0021a0012c0013t0013others(1): Show | a0010c0016t0022g0007a0011c0015t0021g0013a0012c0013t0013g0006others(1): Show | 4 | 186 | 0.0215 | 0 | c.61T others(2): Show |
p.Phe others(5): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/14 | 207/5457 | 61/2334 | 21/777 | chr4 | TogoVar | ||
ARHGEF38_chr4_105547620_105685914 | 105589313 | A | G | missense_variant | MODERATE | HG00639.hp2 HG01074.hp1 HG01243.hp2 others(15): Show |
a0003a0004 | a0003c0005a0003c0007a0004c0006others(1): Show | a0003c0005t0004a0003c0005t0008a0003c0005t0012others(6): Show | a0003c0005t0004g0056a0003c0005t0004g0098a0003c0005t0004g0136others(15): Show | 18 | 186 | 0.0968 | 0 | c.262 others(3): Show |
p.Met others(5): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 2/14 | 408/5457 | 262/2334 | 88/777 | chr4 | TogoVar | ||
ARHGEF38_chr4_105547620_105685914 | 105645214 | G | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp1 HG03139.hp1 |
a0006 | a0006c0011a0006c0026 | a0006c0011t0002a0006c0026t0002 | a0006c0011t0002g0003a0006c0011t0002g0004a0006c0026t0002g0089 | 3 | 186 | 0.0161 | 0 | c.701 others(3): Show |
p.Gly others(6): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 6/14 | 847/5457 | 701/2334 | 234/777 | chr4 | TogoVar | ||
ARHGEF38_chr4_105547620_105685914 | 105645321 | G | C | missense_variant | MODERATE | HG01070.hp1 HG02145.hp1 HG02257.hp2 others(7): Show |
a0005a0008a0009others(2): Show | a0005c0008a0005c0020a0005c0028others(4): Show | a0005c0008t0001a0005c0008t0003a0005c0020t0003others(5): Show | a0005c0008t0001g0144a0005c0008t0001g0151a0005c0008t0001g0177others(7): Show | 10 | 186 | 0.0538 | 0 | c.808 others(3): Show |
p.Asp others(6): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 6/14 | 954/5457 | 808/2334 | 270/777 | chr4 | TogoVar | ||
ARHGEF38_chr4_105547620_105685914 | 105659073 | T | A | missense_variant | MODERATE | NA19030.hp2 | a0012 | a0012c0013 | a0012c0013t0013 | a0012c0013t0013g0006 | 1 | 186 | 0.0054 | 0 | c.125 others(4): Show |
p.Leu others(6): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 10/14 | 1399/5457 | 1253/2334 | 418/777 | chr4 | TogoVar | ||
ARHGEF38_chr4_105547620_105685914 | 105659183 | A | G | missense_variant | MODERATE | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(110): Show |
a0001a0003a0005others(5): Show | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(36): Show | a0001c0002t0001g0067a0001c0002t0001g0080a0001c0002t0001g0104others(109): Show | 113 | 186 | 0.6075 | 0 | c.136 others(4): Show |
p.Thr others(6): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 10/14 | 1509/5457 | 1363/2334 | 455/777 | chr4 | TogoVar | ||
ARHGEF38_chr4_105547620_105685914 | 105667456 | A | G | missense_variant | MODERATE | HG02145.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0133 | 1 | 186 | 0.0054 | 0 | c.190 others(4): Show |
p.Tyr others(6): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 13/14 | 2047/5457 | 1901/2334 | 634/777 | chr4 | TogoVar | ||
ARHGEF38_chr4_105547620_105685914 | 105667692 | G | C | missense_variant | MODERATE | HG02965.hp1 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0023 | 1 | 186 | 0.0054 | 0 | c.213 others(4): Show |
p.Val others(6): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 13/14 | 2283/5457 | 2137/2334 | 713/777 | chr4 | TogoVar | ||
ARHGEF39_chr9_35654343_35670195 | 35662185 | G | C | missense_variant | MODERATE | HG02572.hp2 | a0007 | a0007c0006 | a0007c0006t0022 | a0007c0006t0022g0020 | 1 | 422 | 0.0024 | 0 | c.986 others(3): Show |
p.Ala others(6): Show |
ARHGEF39 | ENSG00000137135.18 | transcript | ENST00000378387.4 | protein_coding | 8/9 | 1012/3678 | 986/1008 | 329/335 | chr9 | TogoVar | ||
ARHGEF39_chr9_35654343_35670195 | 35662210 | G | A | missense_variant | MODERATE | HG01358.hp1 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0031 | 1 | 422 | 0.0024 | 0 | c.961 others(3): Show |
p.Arg others(6): Show |
ARHGEF39 | ENSG00000137135.18 | transcript | ENST00000378387.4 | protein_coding | 8/9 | 987/3678 | 961/1008 | 321/335 | chr9 | TogoVar | ||
ARHGEF39_chr9_35654343_35670195 | 35662254 | T | C | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(138): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0001a0002c0002t0002g0024a0002c0002t0003g0003others(2): Show | 141 | 422 | 0.3341 | 0 | c.917 others(3): Show |
p.His others(6): Show |
ARHGEF39 | ENSG00000137135.18 | transcript | ENST00000378387.4 | protein_coding | 8/9 | 943/3678 | 917/1008 | 306/335 | chr9 | TogoVar | ||
ARHGEF39_chr9_35654343_35670195 | 35662645 | A | G | missense_variant | MODERATE | HG03130.hp2 | a0008 | a0008c0005 | a0008c0005t0008 | a0008c0005t0008g0019 | 1 | 422 | 0.0024 | 0 | c.770 others(3): Show |
p.Met others(6): Show |
ARHGEF39 | ENSG00000137135.18 | transcript | ENST00000378387.4 | protein_coding | 7/9 | 796/3678 | 770/1008 | 257/335 | chr9 | TogoVar | ||
ARHGEF39_chr9_35654343_35670195 | 35662727 | G | A | missense_variant | MODERATE | HG02818.hp2 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0025 | 1 | 422 | 0.0024 | 0 | c.688 others(3): Show |
p.Arg others(6): Show |
ARHGEF39 | ENSG00000137135.18 | transcript | ENST00000378387.4 | protein_coding | 7/9 | 714/3678 | 688/1008 | 230/335 | chr9 | TogoVar | ||
ARHGEF39_chr9_35654343_35670195 | 35663349 | T | C | missense_variant | MODERATE | HG01891.hp2 HG03225.hp1 |
a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0017 | 2 | 422 | 0.0047 | 0 | c.517 others(3): Show |
p.Asn others(6): Show |
ARHGEF39 | ENSG00000137135.18 | transcript | ENST00000378387.4 | protein_coding | 5/9 | 543/3678 | 517/1008 | 173/335 | chr9 | TogoVar | ||
ARHGEF39_chr9_35654343_35670195 | 35665156 | C | A | missense_variant | MODERATE | HG00140.hp1 HG01168.hp1 HG01169.hp1 others(24): Show |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0008 | a0003c0003t0007g0008a0003c0003t0008g0009a0003c0003t0008g0039others(1): Show | 27 | 422 | 0.0640 | 0 | c.14G others(2): Show |
p.Cys others(4): Show |
ARHGEF39 | ENSG00000137135.18 | transcript | ENST00000378387.4 | protein_coding | 1/9 | 40/3678 | 14/1008 | 5/335 | chr9 | TogoVar | ||
ARHGEF3_chr3_56722420_56806949 | 56729329 | G | A | missense_variant | MODERATE | HG00558.hp2 NA19090.hp1 |
a0003 | a0003c0010a0003c0014 | a0003c0010t0003a0003c0014t0003 | a0003c0010t0003g0117a0003c0014t0003g0320 | 2 | 358 | 0.0056 | 0 | c.152 others(4): Show |
p.Arg others(6): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 10/10 | 1673/3582 | 1522/1581 | 508/526 | chr3 | TogoVar | ||
ARHGEF3_chr3_56722420_56806949 | 56732325 | C | T | missense_variant | MODERATE | HG02647.hp1 | a0004 | a0004c0011 | a0004c0011t0008 | a0004c0011t0008g0072 | 1 | 358 | 0.0028 | 0 | c.114 others(4): Show |
p.Val others(6): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 9/10 | 1292/3582 | 1141/1581 | 381/526 | chr3 | TogoVar | ||
ARHGEF3_chr3_56722420_56806949 | 56737223 | A | C | missense_variant | MODERATE | HG00140.hp1 HG00323.hp2 HG00544.hp1 others(144): Show |
a0002a0003 | a0002c0001a0002c0004a0003c0010others(1): Show | a0002c0001t0001a0002c0001t0003a0002c0001t0007others(9): Show | a0002c0001t0001g0010a0002c0001t0001g0014a0002c0001t0001g0015others(142): Show | 147 | 358 | 0.4106 | 0 | c.100 others(4): Show |
p.Leu others(6): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 8/10 | 1154/3582 | 1003/1581 | 335/526 | chr3 | TogoVar | ||
ARHGEF3_chr3_56722420_56806949 | 56801761 | T | C | missense_variant | MODERATE | NA19056.hp2 | a0005 | a0005c0015 | a0005c0015t0002 | a0005c0015t0002g0352 | 1 | 358 | 0.0028 | 0 | c.38A others(2): Show |
p.Lys others(5): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 1/10 | 189/3582 | 38/1581 | 13/526 | chr3 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21074607 | A | G | missense_variant | MODERATE | HG00423.hp1 HG00735.hp2 HG00738.hp2 others(29): Show |
a0004a0006a0014 | a0004c0005a0004c0013a0006c0007others(1): Show | a0004c0005t0001a0004c0013t0001a0006c0007t0001others(1): Show | a0004c0005t0001g0004a0004c0005t0001g0006a0004c0005t0001g0038others(13): Show | 32 | 386 | 0.0829 | 0 | c.877 others(3): Show |
p.Lys others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 3/24 | 970/5893 | 877/4560 | 293/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21074934 | C | T | missense_variant | MODERATE | HG02717.hp2 HG03041.hp1 |
a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0050a0013c0019t0001g0154 | 2 | 386 | 0.0052 | 0 | c.120 others(4): Show |
p.Pro others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 3/24 | 1297/5893 | 1204/4560 | 402/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21075710 | C | T | missense_variant | MODERATE | HG03834.hp1 | a0025 | a0025c0036 | a0025c0036t0001 | a0025c0036t0001g0008 | 1 | 386 | 0.0026 | 0 | c.168 others(4): Show |
p.Pro others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 5/24 | 1777/5893 | 1684/4560 | 562/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21078195 | C | T | missense_variant | MODERATE | HG01106.hp2 HG01109.hp1 HG01123.hp2 others(24): Show |
a0003a0015 | a0003c0004a0015c0025 | a0003c0004t0001a0003c0004t0004a0003c0004t0009others(1): Show | a0003c0004t0001g0010a0003c0004t0001g0026a0003c0004t0001g0028others(11): Show | 27 | 386 | 0.0700 | 0 | c.205 others(4): Show |
p.Arg others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 9/24 | 2146/5893 | 2053/4560 | 685/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21078476 | C | T | missense_variant | MODERATE | HG02132.hp2 NA18612.hp2 |
a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0001 | 2 | 386 | 0.0052 | 0 | c.223 others(4): Show |
p.Thr others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 10/24 | 2327/5893 | 2234/4560 | 745/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21080754 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0016 | a0016c0027 | a0016c0027t0001 | a0016c0027t0001g0008 | 1 | 386 | 0.0026 | 0 | c.246 others(4): Show |
p.Arg others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 12/24 | 2561/5893 | 2468/4560 | 823/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21080877 | G | A | missense_variant | MODERATE | HG03516.hp2 | a0015 | a0015c0025 | a0015c0025t0016 | a0015c0025t0016g0107 | 1 | 386 | 0.0026 | 0 | c.250 others(4): Show |
p.Arg others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 13/24 | 2594/5893 | 2501/4560 | 834/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21081695 | G | A | missense_variant | MODERATE | HG01167.hp2 HG01169.hp1 HG01192.hp1 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0006a0006c0007t0001g0076 | 7 | 386 | 0.0181 | 0 | c.282 others(4): Show |
p.Ala others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 14/24 | 2920/5893 | 2827/4560 | 943/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21081734 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0004a0005others(13): Show | a0001c0001a0001c0003a0001c0011others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(135): Show | 277 | 386 | 0.7176 | 0 | c.286 others(4): Show |
p.Val others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 14/24 | 2959/5893 | 2866/4560 | 956/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21081755 | C | T | missense_variant | MODERATE | HG00735.hp2 | a0014 | a0014c0038 | a0014c0038t0001 | a0014c0038t0001g0080 | 1 | 386 | 0.0026 | 0 | c.288 others(4): Show |
p.Arg others(6): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 14/24 | 2980/5893 | 2887/4560 | 963/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21082426 | T | A | missense_variant | MODERATE | NA19086.hp1 | a0021 | a0021c0021 | a0021c0021t0005 | a0021c0021t0005g0003 | 1 | 386 | 0.0026 | 0 | c.343 others(4): Show |
p.Leu others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 15/24 | 3527/5893 | 3434/4560 | 1145/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21082876 | A | C | missense_variant | MODERATE | HG03710.hp2 | a0020 | a0020c0034 | a0020c0034t0013 | a0020c0034t0013g0001 | 1 | 386 | 0.0026 | 0 | c.353 others(4): Show |
p.Lys others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 16/24 | 3625/5893 | 3532/4560 | 1178/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21082907 | C | A | missense_variant | MODERATE | HG02451.hp2 HG02976.hp2 HG03098.hp1 others(1): Show |
a0009 | a0009c0014a0009c0015 | a0009c0014t0001a0009c0015t0001 | a0009c0014t0001g0163a0009c0014t0001g0164a0009c0015t0001g0037 | 4 | 386 | 0.0104 | 0 | c.356 others(4): Show |
p.Pro others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 16/24 | 3656/5893 | 3563/4560 | 1188/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21082910 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0003a0004others(17): Show | a0001c0001a0001c0003a0001c0011others(26): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(154): Show | 309 | 386 | 0.8005 | 0 | c.356 others(4): Show |
p.Leu others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 16/24 | 3659/5893 | 3566/4560 | 1189/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21083992 | G | A | missense_variant | MODERATE | HG02895.hp2 HG02897.hp2 |
a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0034 | 2 | 386 | 0.0052 | 0 | c.373 others(4): Show |
p.Arg others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 17/24 | 3824/5893 | 3731/4560 | 1244/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21084898 | T | C | missense_variant | MODERATE | HG00733.hp1 HG01109.hp2 HG01261.hp2 others(22): Show |
a0005a0009a0010 | a0005c0006a0005c0009a0005c0029others(4): Show | a0005c0006t0001a0005c0009t0001a0005c0029t0001others(5): Show | a0005c0006t0001g0013a0005c0006t0001g0035a0005c0006t0001g0041others(14): Show | 25 | 386 | 0.0648 | 0 | c.393 others(4): Show |
p.Met others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 18/24 | 4028/5893 | 3935/4560 | 1312/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21085722 | G | A | missense_variant | MODERATE | NA19064.hp2 | a0023 | a0023c0022 | a0023c0022t0001 | a0023c0022t0001g0025 | 1 | 386 | 0.0026 | 0 | c.399 others(4): Show |
p.Asp others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 19/24 | 4087/5893 | 3994/4560 | 1332/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21085791 | A | G | missense_variant | MODERATE | NA19084.hp2 | a0017 | a0017c0032 | a0017c0032t0001 | a0017c0032t0001g0018 | 1 | 386 | 0.0026 | 0 | c.406 others(4): Show |
p.Thr others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 19/24 | 4156/5893 | 4063/4560 | 1355/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21087079 | C | A | missense_variant | MODERATE | NA19009.hp1 | a0018 | a0018c0030 | a0018c0030t0001 | a0018c0030t0001g0001 | 1 | 386 | 0.0026 | 0 | c.421 others(4): Show |
p.Thr others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 20/24 | 4310/5893 | 4217/4560 | 1406/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21087322 | G | A | missense_variant others(1): Show |
MODERATE | HG00140.hp1 | a0019 | a0019c0031 | a0019c0031t0001 | a0019c0031t0001g0020 | 1 | 386 | 0.0026 | 0 | c.424 others(4): Show |
p.Ala others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 21/24 | 4339/5893 | 4246/4560 | 1416/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21087415 | C | T | missense_variant | MODERATE | NA18945.hp2 NA18950.hp1 NA18960.hp2 others(4): Show |
a0007a0023 | a0007c0008a0023c0022 | a0007c0008t0001a0023c0022t0001 | a0007c0008t0001g0002a0007c0008t0001g0089a0023c0022t0001g0025 | 7 | 386 | 0.0181 | 0 | c.433 others(4): Show |
p.Arg others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 21/24 | 4432/5893 | 4339/4560 | 1447/1519 | chr14 | TogoVar | ||
ARHGEF40_chr14_21065304_21095248 | 21088073 | G | A | missense_variant | MODERATE | HG02258.hp1 | a0022 | a0022c0024 | a0022c0024t0001 | a0022c0024t0001g0092 | 1 | 386 | 0.0026 | 0 | c.449 others(4): Show |
p.Arg others(7): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 22/24 | 4586/5893 | 4493/4560 | 1498/1519 | chr14 | TogoVar | ||
ARHGEF4_chr2_130831914_131052253 | 130914191 | G | C | missense_variant | MODERATE | HG03471.hp1 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0057 | 1 | 144 | 0.0069 | 0 | c.245 others(3): Show |
p.Gly others(5): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 2/14 | 285/6735 | 245/5631 | 82/1876 | chr2 | TogoVar | ||
ARHGEF4_chr2_130831914_131052253 | 130914266 | A | C | missense_variant | MODERATE | HG01258.hp2 | a0015 | a0015c0054 | a0015c0054t0001 | a0015c0054t0001g0061 | 1 | 144 | 0.0069 | 0 | c.320 others(3): Show |
p.Asp others(6): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 2/14 | 360/6735 | 320/5631 | 107/1876 | chr2 | TogoVar | ||
ARHGEF4_chr2_130831914_131052253 | 130914469 | G | A | missense_variant | MODERATE | HG00735.hp2 | a0025 | a0025c0024 | a0025c0024t0001 | a0025c0024t0001g0029 | 1 | 144 | 0.0069 | 0 | c.523 others(3): Show |
p.Ala others(6): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 2/14 | 563/6735 | 523/5631 | 175/1876 | chr2 | TogoVar |