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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP17_chr16_24914389_25020369 | 24977325 | A | G | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG01099.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(9): Show | 12 | 240 | 0.0500 | 0 | c.94- others(4): Show |
ARHGAP17 | ENSG00000140750.17 | transcript | ENST00000289968.11 | protein_coding | 2/19 | chr16 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129599360 | T | C | splice_region_variant others(1): Show |
LOW | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 238 | 0.0042 | 0 | c.157 others(6): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 11/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129605869 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(120): Show | 123 | 238 | 0.5168 | 0 | c.136 others(6): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 10/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129616311 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0018 | a0001c0001t0001g0080a0001c0001t0001g0108a0001c0001t0001g0109others(8): Show | 11 | 238 | 0.0462 | 0 | c.953 others(5): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 6/14 | chr6 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97235319 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(44): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0014a0001c0002t0002g0015a0001c0002t0002g0016others(44): Show | 47 | 242 | 0.1942 | 0 | c.118 others(6): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97243959 | T | TTTAGGCA others(4): Show |
splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 242 | 0.0041 | 11 | c.118 others(22): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 8/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97265854 | T | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(114): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0005a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(10): Show | a0001c0001t0001g0107a0001c0001t0001g0111a0001c0001t0001g0112others(114): Show | 117 | 242 | 0.4835 | 0 | c.322 others(5): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
ARHGAP1_chr11_46672080_46705619 | 46680288 | A | G | splice_region_variant others(1): Show |
LOW | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 344 | 0.0029 | 0 | c.821 others(5): Show |
ARHGAP1 | ENSG00000175220.12 | transcript | ENST00000311956.9 | protein_coding | 9/12 | chr11 | TogoVar | ||||||
ARHGAP21_chr10_24578614_24728887 | 24633394 | A | G | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0137 | 1 | 352 | 0.0028 | 0 | c.440 others(5): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 6/25 | chr10 | TogoVar | ||||||
ARHGAP22_chr10_48441036_48610073 | 48453298 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021others(216): Show | 221 | 270 | 0.8185 | 0 | c.988 others(5): Show |
ARHGAP22 | ENSG00000128805.15 | transcript | ENST00000249601.9 | protein_coding | 8/9 | chr10 | TogoVar | ||||||
ARHGAP22_chr10_48441036_48610073 | 48455141 | G | A | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG01099.hp1 HG01891.hp2 others(22): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0001g0021a0001c0001t0001g0088a0001c0001t0001g0093others(21): Show | 25 | 270 | 0.0926 | 0 | c.660 others(5): Show |
ARHGAP22 | ENSG00000128805.15 | transcript | ENST00000249601.9 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ARHGAP23_chr17_38423464_38517385 | 38482014 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0023others(108): Show | 112 | 309 | 0.3625 | 0 | c.263 others(6): Show |
ARHGAP23 | ENSG00000275832.5 | transcript | ENST00000622683.5 | protein_coding | 14/23 | chr17 | TogoVar | ||||||
ARHGAP23_chr17_38423464_38517385 | 38482147 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(74): Show | 78 | 309 | 0.2524 | 0 | c.275 others(6): Show |
ARHGAP23 | ENSG00000275832.5 | transcript | ENST00000622683.5 | protein_coding | 15/23 | chr17 | TogoVar | ||||||
ARHGAP23_chr17_38423464_38517385 | 38500636 | T | C | splice_region_variant others(1): Show |
LOW | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 309 | 0.0032 | 0 | c.344 others(6): Show |
ARHGAP23 | ENSG00000275832.5 | transcript | ENST00000622683.5 | protein_coding | 23/23 | chr17 | TogoVar | ||||||
ARHGAP24_chr4_85470150_86007666 | 85942053 | CT | C | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00423.hp1 HG00639.hp2 others(41): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0012others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(41): Show | 44 | 108 | 0.4074 | -1 | c.392 others(6): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGAP25_chr2_68729811_68831833 | 68813279 | T | C | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp2 HG02055.hp2 others(4): Show |
a0002a0005a0010 | a0002c0007a0005c0010a0010c0017 | a0002c0007t0007a0002c0007t0016a0005c0010t0007others(1): Show | a0002c0007t0007g0016a0002c0007t0007g0264a0002c0007t0007g0265others(3): Show | 7 | 368 | 0.0190 | 0 | c.675 others(5): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 5/10 | chr2 | TogoVar | ||||||
ARHGAP25_chr2_68729811_68831833 | 68825983 | G | T | splice_region_variant others(1): Show |
LOW | HG01070.hp2 HG01071.hp1 HG01109.hp1 others(18): Show |
a0002a0003a0011 | a0002c0002a0003c0003a0011c0019 | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(3): Show | a0002c0002t0001g0008a0002c0002t0001g0094a0002c0002t0001g0098others(18): Show | 21 | 368 | 0.0571 | 0 | c.173 others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 10/10 | chr2 | TogoVar | ||||||
ARHGAP26_chr5_142765377_143234007 | 142879367 | T | C | splice_region_variant others(1): Show |
LOW | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0065 | 1 | 198 | 0.0051 | 0 | c.313 others(5): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
ARHGAP26_chr5_142765377_143234007 | 142901928 | A | G | splice_region_variant others(1): Show |
LOW | HG02258.hp1 HG02647.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0026 | a0001c0001t0006g0086a0001c0001t0010g0080a0001c0001t0026g0071 | 3 | 198 | 0.0152 | 0 | c.598 others(5): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 6/22 | chr5 | TogoVar | ||||||
ARHGAP26_chr5_142765377_143234007 | 143207194 | G | T | splice_region_variant others(1): Show |
LOW | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 198 | 0.0051 | 0 | c.198 others(6): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 20/22 | chr5 | TogoVar | ||||||
ARHGAP26_chr5_142765377_143234007 | 143214087 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(194): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0012a0001c0001t0001g0018a0001c0001t0001g0020others(194): Show | 197 | 198 | 0.9950 | 0 | c.219 others(4): Show |
p.Asn others(6): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 22/23 | 2575/9226 | 2190/2280 | 730/759 | chr5 | TogoVar | ||
ARHGAP28_chr18_6724716_6920716 | 6870586 | T | C | splice_region_variant others(1): Show |
LOW | HG02922.hp1 HG03139.hp2 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0003a0001c0018a0002c0017 | a0001c0003t0003a0001c0018t0020a0002c0017t0002 | a0001c0003t0003g0002a0001c0003t0003g0076a0001c0003t0003g0104others(3): Show | 6 | 248 | 0.0242 | 0 | c.812 others(5): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 6/17 | chr18 | TogoVar | ||||||
ARHGAP30_chr1_161041946_161074891 | 161049334 | C | T | missense_variant others(1): Show |
MODERATE | NA18975.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0216 | 1 | 390 | 0.0026 | 0 | c.168 others(4): Show |
p.Val others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 12/12 | 1954/4342 | 1687/3306 | 563/1101 | chr1 | TogoVar | ||
ARHGAP31_chr3_119289383_119425714 | 119383078 | C | T | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG00735.hp2 HG00741.hp1 others(13): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0005g0022a0001c0001t0005g0111a0001c0001t0007g0293others(12): Show | 16 | 310 | 0.0516 | 0 | c.540 others(5): Show |
ARHGAP31 | ENSG00000031081.11 | transcript | ENST00000264245.9 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
ARHGAP31_chr3_119289383_119425714 | 119390990 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00735.hp1 HG00738.hp1 others(11): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0008 | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0005g0087a0001c0001t0007g0275a0001c0001t0007g0296others(11): Show | 14 | 310 | 0.0452 | 0 | c.881 others(5): Show |
ARHGAP31 | ENSG00000031081.11 | transcript | ENST00000264245.9 | protein_coding | 7/11 | chr3 | TogoVar | ||||||
ARHGAP31_chr3_119289383_119425714 | 119409781 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(199): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(53): Show | a0001c0001t0005g0022a0001c0001t0005g0058a0001c0001t0005g0077others(197): Show | 202 | 310 | 0.6516 | 0 | c.192 others(6): Show |
ARHGAP31 | ENSG00000031081.11 | transcript | ENST00000264245.9 | protein_coding | 11/11 | chr3 | TogoVar | ||||||
ARHGAP32_chr11_128960060_129197325 | 128986673 | C | T | splice_region_variant others(1): Show |
LOW | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0074 | 1 | 398 | 0.0025 | 0 | c.129 others(6): Show |
ARHGAP32 | ENSG00000134909.19 | transcript | ENST00000682385.1 | protein_coding | 13/22 | chr11 | TogoVar | ||||||
ARHGAP33_chr19_35770564_35793822 | 35777914 | G | A | splice_region_variant others(1): Show |
LOW | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 420 | 0.0024 | 0 | c.189 others(5): Show |
ARHGAP33 | ENSG00000004777.19 | transcript | ENST00000007510.9 | protein_coding | 3/20 | chr19 | TogoVar | ||||||
ARHGAP33_chr19_35770564_35793822 | 35784172 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00621.hp1 HG00733.hp1 others(73): Show |
a0001 | a0001c0003a0001c0007a0001c0021others(1): Show | a0001c0003t0001a0001c0007t0001a0001c0021t0001others(1): Show | a0001c0003t0001g0006a0001c0003t0001g0009a0001c0003t0001g0011others(16): Show | 76 | 420 | 0.1810 | 0 | c.142 others(4): Show |
p.Arg others(6): Show |
ARHGAP33 | ENSG00000004777.19 | transcript | ENST00000007510.9 | protein_coding | 16/21 | 1517/4352 | 1422/3864 | 474/1287 | chr19 | TogoVar | ||
ARHGAP33_chr19_35770564_35793822 | 35785184 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(174): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(38): Show | 177 | 420 | 0.4214 | 0 | c.172 others(6): Show |
ARHGAP33 | ENSG00000004777.19 | transcript | ENST00000007510.9 | protein_coding | 17/20 | chr19 | TogoVar | ||||||
ARHGAP33_chr19_35770564_35793822 | 35786406 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 NA18747.hp2 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028a0001c0002t0001g0045 | 3 | 420 | 0.0071 | 0 | c.194 others(6): Show |
ARHGAP33 | ENSG00000004777.19 | transcript | ENST00000007510.9 | protein_coding | 19/20 | chr19 | TogoVar | ||||||
ARHGAP35_chr19_46855997_47010077 | 46999416 | C | T | splice_region_variant others(1): Show |
LOW | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 298 | 0.0034 | 0 | c.414 others(6): Show |
ARHGAP35 | ENSG00000160007.20 | transcript | ENST00000672722.1 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144530621 | T | C | splice_region_variant others(1): Show |
LOW | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 246 | 0.0041 | 0 | c.315 others(6): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 11/11 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144533119 | G | A | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02572.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018a0001c0001t0007g0168a0001c0001t0007g0239 | 3 | 246 | 0.0122 | 0 | c.288 others(6): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 9/11 | chr8 | TogoVar | ||||||
ARHGAP40_chr20_38596809_38655653 | 38628921 | G | A | splice_region_variant others(1): Show |
LOW | HG02886.hp2 HG02895.hp2 HG02896.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0029a0005c0006t0002g0087a0005c0006t0002g0106others(1): Show | 5 | 350 | 0.0143 | 0 | c.559 others(5): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 3/14 | chr20 | TogoVar | ||||||
ARHGAP40_chr20_38596809_38655653 | 38629497 | C | T | splice_region_variant others(1): Show |
LOW | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 350 | 0.0029 | 0 | c.635 others(5): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 4/14 | chr20 | TogoVar | ||||||
ARHGAP40_chr20_38596809_38655653 | 38643910 | G | A | splice_region_variant others(1): Show |
LOW | HG02809.hp1 | a0003 | a0003c0036 | a0003c0036t0002 | a0003c0036t0002g0077 | 1 | 350 | 0.0029 | 0 | c.156 others(4): Show |
p.Thr others(6): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 11/15 | 1703/2967 | 1569/2028 | 523/675 | chr20 | TogoVar | ||
ARHGAP42_chr11_100682288_100998941 | 100913447 | T | A | splice_region_variant others(1): Show |
LOW | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 286 | 0.0035 | 0 | c.385 others(5): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 4/23 | chr11 | TogoVar | ||||||
ARHGAP42_chr11_100682288_100998941 | 100921604 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(31): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0003t0003a0001c0003t0006others(5): Show | a0001c0003t0001g0157a0001c0003t0001g0158a0001c0003t0001g0170others(31): Show | 34 | 286 | 0.1189 | 0 | c.597 others(3): Show |
p.Pro others(6): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 6/24 | 988/8156 | 597/2625 | 199/874 | chr11 | TogoVar | ||
ARHGAP42_chr11_100682288_100998941 | 100988708 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(59): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0034others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0023others(59): Show | 62 | 286 | 0.2168 | 0 | c.253 others(6): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 23/23 | chr11 | TogoVar | ||||||
ARHGAP44_chr17_12784498_12996643 | 12894986 | C | T | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02559.hp2 HG02622.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0010a0001c0006t0001others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0185others(8): Show | 11 | 230 | 0.0478 | 0 | c.93+ others(4): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 2/20 | chr17 | TogoVar | ||||||
ARHGAP44_chr17_12784498_12996643 | 12896399 | C | T | splice_region_variant others(1): Show |
LOW | NA19060.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0082 | 1 | 230 | 0.0044 | 0 | c.94- others(4): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 2/20 | chr17 | TogoVar | ||||||
ARHGAP44_chr17_12784498_12996643 | 12941123 | C | T | missense_variant others(1): Show |
MODERATE | HG03942.hp2 | a0003 | a0003c0017 | a0003c0017t0003 | a0003c0017t0003g0068 | 1 | 230 | 0.0044 | 0 | c.650 others(3): Show |
p.Thr others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 8/21 | 991/4270 | 650/2457 | 217/818 | chr17 | TogoVar | ||
ARHGAP44_chr17_12784498_12996643 | 12949142 | A | G | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG01169.hp1 HG01192.hp2 others(20): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0016 | a0001c0002t0001a0001c0002t0003a0001c0002t0026others(6): Show | a0001c0002t0001g0089a0001c0002t0001g0100a0001c0002t0001g0104others(20): Show | 23 | 230 | 0.1000 | 0 | c.864 others(3): Show |
p.Gly others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 11/21 | 1205/4270 | 864/2457 | 288/818 | chr17 | TogoVar | ||
ARHGAP44_chr17_12784498_12996643 | 12958712 | C | T | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01891.hp1 HG01928.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0094a0001c0001t0001g0111a0001c0001t0001g0144others(9): Show | 12 | 230 | 0.0522 | 0 | c.134 others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 15/20 | chr17 | TogoVar | ||||||
ARHGAP44_chr17_12784498_12996643 | 12958713 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02280.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0185a0001c0001t0001g0225a0001c0001t0001g0226others(3): Show | 6 | 230 | 0.0261 | 0 | c.134 others(6): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 15/20 | chr17 | TogoVar | ||||||
ARHGAP45_chr19_1062167_1091628 | 1068743 | C | T | splice_region_variant others(1): Show |
LOW | NA18946.hp2 NA19085.hp1 |
a0002 | a0002c0031 | a0002c0031t0004 | a0002c0031t0004g0010a0002c0031t0004g0165 | 2 | 418 | 0.0048 | 0 | c.420 others(3): Show |
p.Asp others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 2/23 | 659/4272 | 420/3411 | 140/1136 | chr19 | TogoVar | ||
ARHGAP45_chr19_1062167_1091628 | 1074336 | C | T | splice_region_variant others(1): Show |
LOW | HG03471.hp1 | a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0188 | 1 | 418 | 0.0024 | 0 | c.929 others(5): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 7/22 | chr19 | TogoVar | ||||||
ARHGAP45_chr19_1062167_1091628 | 1074410 | G | A | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0017 | a0017c0057 | a0017c0057t0019 | a0017c0057t0019g0178 | 1 | 418 | 0.0024 | 0 | c.993 others(5): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 8/22 | chr19 | TogoVar | ||||||
ARHGAP45_chr19_1062167_1091628 | 1080121 | A | AC | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01255.hp2 HG03927.hp1 others(1): Show |
a0001a0002a0006 | a0001c0002a0002c0001a0006c0018 | a0001c0002t0001a0002c0001t0003a0002c0001t0004others(1): Show | a0001c0002t0001g0252a0002c0001t0003g0110a0002c0001t0004g0156others(1): Show | 4 | 418 | 0.0096 | 1 | c.170 others(7): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |