view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show |
242 | 384 | 0.6302 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | |||
CXCL11_chr4_76028682_76041070 | 76034794 | T | A | stop_lost | HIGH | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 420 | 0.0024 | 0 | c.284 others(3): Show |
p.Ter others(10): Show |
CXCL11 | ENSG00000169248.13 | transcript | ENST00000306621.8 | protein_coding | 4/4 | 367/1479 | 284/285 | 95/94 | chr4 | TogoVar | |||
CYP2D6_chr22_42121499_42135810 | 42128945 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp1 HG00733.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 25 | 416 | 0.0601 | 0 | c.506 others(5): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
DAZ4_chrY_24828919_24912040 | 24882195 | CAAGATGC others(11917): Show |
C | exon_loss_variant | HIGH | HG01433.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 40 | 0.0250 | -11924 | c.164 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show |
268 | 454 | 0.5903 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | |||
DFFA_chr1_10451522_10477529 | 10472433 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
a0002 | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(57): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show |
195 | 436 | 0.4472 | 1 | c.25d others(3): Show |
p.Val others(3): Show |
DFFA | ENSG00000160049.12 | transcript | ENST00000377038.8 | protein_coding | 1/6 | 96/6035 | 25/996 | 9/331 | chr1 | TogoVar | |||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0017others(2): Show | a0002c0002a0002c0005a0002c0024others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0024t0001others(7): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show |
132 | 433 | 0.3049 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0002a0003a0006others(21): Show | a0002c0007a0003c0003a0003c0054others(26): Show | a0002c0007t0001a0002c0007t0004a0003c0003t0001others(32): Show | a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 others(86): Show |
99 | 269 | 0.3680 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0046others(11): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(14): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0125 others(40): Show |
45 | 252 | 0.1786 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0006a0007a0011others(81): Show | a0006c0214a0006c0262a0006c0266others(98): Show | a0006c0214t0006a0006c0262t0001a0006c0266t0005others(99): Show | a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 others(104): Show |
107 | 296 | 0.3615 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 1/82 | 307/14343 | 100/13551 | 34/4516 | chr7 | TogoVar | |||
DNAJC28_chr21_33483055_33496716 | 33488442 | CAATTA | C | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0012 others(3): Show |
61 | 414 | 0.1473 | -5 | c.947 others(12): Show |
p.Leu others(5): Show |
DNAJC28 | ENSG00000177692.13 | transcript | ENST00000381947.4 | protein_coding | 2/2 | 1097/1485 | 947/1167 | 316/388 | chr21 | TogoVar | |||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show |
163 | 402 | 0.4055 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | |||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 others(194): Show |
212 | 372 | 0.5699 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | |||||||
EFCAB5_chr17_29936634_30113452 | 29941799 | G | A | start_lost | HIGH | HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show |
a0003 | a0003c0003a0003c0006a0003c0013others(1): Show | a0003c0003t0002a0003c0006t0002a0003c0013t0002others(1): Show | a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 others(20): Show |
23 | 246 | 0.0935 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1/23 | 166/5103 | 3/4512 | 1/1503 | chr17 | TogoVar | |||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(216): Show |
221 | 226 | 0.9779 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | TogoVar | |||||||
FAM90A10_chr8_7763977_7776988 | 7770362 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(41): Show |
a0003a0005a0009others(16): Show | a0003c0003a0005c0005a0009c0021others(18): Show | a0003c0003t0001a0005c0005t0001a0009c0021t0001others(18): Show | a0003c0003t0001g0001 a0003c0003t0001g0027 a0005c0005t0001g0004 others(19): Show |
44 | 126 | 0.3492 | 0 | c.432 others(5): Show |
FAM90A10 | ENSG00000285950.1 | transcript | ENST00000533716.2 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FBXL18_chr7_5470797_5518809 | 5500960 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(36): Show |
a0002a0004a0005 | a0002c0004a0002c0006a0002c0017others(3): Show | a0002c0004t0001a0002c0004t0005a0002c0004t0006others(16): Show | a0002c0004t0001g0017 a0002c0004t0001g0137 a0002c0004t0001g0145 others(35): Show |
39 | 336 | 0.1161 | 1 | c.130 others(5): Show |
p.Ala others(5): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/5 | 1443/8270 | 1308/2157 | 436/718 | chr7 | TogoVar | |||
FIBCD1_chr9_130897440_130944247 | 130938591 | C | T | stop_gained | HIGH | HG01433.hp2 | a0006 | a0006c0006 | a0006c0006t0012 | a0006c0006t0012g0043 | 1 | 380 | 0.0026 | 0 | c.17G others(2): Show |
p.Trp others(2): Show |
FIBCD1 | ENSG00000130720.13 | transcript | ENST00000372338.9 | protein_coding | 1/7 | 657/3650 | 17/1386 | 6/461 | chr9 | TogoVar | |||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show |
278 | 365 | 0.7616 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0003a0004a0005others(9): Show | a0003c0002a0003c0042a0003c0043others(12): Show | a0003c0002t0002a0003c0002t0012a0003c0002t0019others(16): Show | a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(20): Show |
155 | 420 | 0.3690 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152304352 | G | A | stop_gained | HIGH | HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show |
a0005a0008a0009others(21): Show | a0005c0006a0005c0132a0008c0010others(25): Show | a0005c0006t0001a0005c0132t0001a0008c0010t0001others(25): Show | a0005c0006t0001g0003 a0005c0132t0001g0117 a0008c0010t0001g0026 others(32): Show |
58 | 424 | 0.1368 | 0 | c.105 others(5): Show |
p.Gln others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10606/12793 | 10534/12186 | 3512/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152304887 | C | T | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 0 | c.999 others(4): Show |
p.Trp others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10071/12793 | 9999/12186 | 3333/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152305571 | G | C | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 0 | c.931 others(4): Show |
p.Tyr others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9387/12793 | 9315/12186 | 3105/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152305861 | G | A | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0008a0009a0022others(15): Show | a0008c0010a0008c0125a0009c0013others(18): Show | a0008c0010t0001a0008c0125t0001a0009c0013t0002others(18): Show | a0008c0010t0001g0026 a0008c0010t0001g0064 a0008c0010t0001g0131 others(25): Show |
37 | 424 | 0.0873 | 0 | c.902 others(4): Show |
p.Arg others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9097/12793 | 9025/12186 | 3009/4061 | chr1 | TogoVar | |||
FLG_chr1_152297165_152330239 | 152313060 | G | T | stop_gained | HIGH | HG01433.hp2 | a0060 | a0060c0118 | a0060c0118t0001 | a0060c0118t0001g0145 | 1 | 424 | 0.0024 | 0 | c.182 others(4): Show |
p.Ser others(4): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 1898/12793 | 1826/12186 | 609/4061 | chr1 | TogoVar | |||
FMN2_chr1_240086883_240480187 | 240207539 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG00621.hp2 HG00738.hp1 others(13): Show |
a0014a0023a0031others(10): Show | a0014c0091a0014c0092a0014c0093others(13): Show | a0014c0091t0003a0014c0092t0001a0014c0093t0006others(13): Show | a0014c0091t0003g0120 a0014c0092t0001g0107 a0014c0093t0006g0138 others(13): Show |
16 | 164 | 0.0976 | 1 | c.273 others(5): Show |
p.Pro others(5): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 2960/6429 | 2733/5169 | 911/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
FMNL2_chr2_152330174_152654826 | 152619552 | G | GCCAC | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show |
a0002a0003a0007 | a0002c0002a0002c0004a0002c0007others(13): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0002 a0002c0002t0001g0021 a0002c0002t0001g0033 others(72): Show |
75 | 76 | 0.9868 | 4 | c.167 others(13): Show |
p.Pro others(5): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 15/26 | 2104/5630 | 1674/3279 | 558/1092 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show |
335 | 382 | 0.8770 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
GABRR3_chr3_97980102_98040315 | 98007903 | A | T | stop_gained others(1): Show |
HIGH | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 others(40): Show |
46 | 380 | 0.1211 | 0 | c.615 others(3): Show |
p.Tyr others(4): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 7/10 | 743/3113 | 615/1404 | 205/467 | chr3 | TogoVar | |||
GATA5_chr20_62458497_62480995 | 62475261 | C | CG | frameshift_variant | HIGH | HG01099.hp1 HG01175.hp1 HG01433.hp2 others(3): Show |
a0003a0008 | a0003c0016a0003c0017a0003c0024others(1): Show | a0003c0016t0001a0003c0016t0011a0003c0017t0011others(3): Show | a0003c0016t0001g0056 a0003c0016t0011g0055 a0003c0017t0011g0052 others(3): Show |
6 | 380 | 0.0158 | 1 | c.260 others(4): Show |
p.Pro others(4): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 2/7 | 347/2620 | 260/1194 | 87/397 | chr20 | TogoVar | |||
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show |
84 | 348 | 0.2414 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | |||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show |
89 | 208 | 0.4279 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GJC2_chr1_228144930_228164826 | 228158838 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00738.hp2 HG01261.hp1 others(5): Show |
a0002 | a0002c0003a0002c0011 | a0002c0003t0001a0002c0011t0002 | a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0003 others(4): Show |
8 | 412 | 0.0194 | 1 | c.108 others(5): Show |
p.Ala others(5): Show |
GJC2 | ENSG00000198835.4 | transcript | ENST00000366714.3 | protein_coding | 2/2 | 1182/2165 | 1085/1320 | 362/439 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0032 others(50): Show |
87 | 434 | 0.2005 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(54): Show |
frameshift_variant others(1): Show |
HIGH | HG00733.hp1 HG01433.hp2 HG03225.hp1 |
a0013 | a0013c0012 | a0013c0012t0002 | a0013c0012t0002g0018 | 3 | 238 | 0.0126 | 61 | c.752 others(68): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0002a0013a0029others(2): Show | a0002c0002a0002c0049a0013c0012others(3): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0017others(7): Show | a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 others(21): Show |
66 | 188 | 0.3511 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show |
a0001a0006a0015others(8): Show | a0001c0001a0001c0014a0001c0023others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show |
215 | 306 | 0.7026 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0003a0006others(19): Show | a0001c0001a0001c0005a0001c0010others(44): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show |
286 | 393 | 0.7277 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0010others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(82): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show |
390 | 394 | 0.9898 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | |||
GPR135_chr14_59455759_59470380 | 59464198 | G | GCA | frameshift_variant | HIGH | HG01257.hp1 HG01258.hp1 HG01433.hp1 others(13): Show |
a0003 | a0003c0004a0003c0016 | a0003c0004t0001a0003c0016t0001 | a0003c0004t0001g0000 a0003c0016t0001g0000 |
16 | 366 | 0.0437 | 2 | c.102 others(11): Show |
p.Trp others(5): Show |
GPR135 | ENSG00000181619.12 | transcript | ENST00000395116.2 | protein_coding | 1/1 | 1182/4622 | 1028/1485 | 343/494 | chr14 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | |||
GRIN2C_chr17_74837023_74864885 | 74850237 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00673.hp1 HG01099.hp2 others(14): Show |
a0004 | a0004c0005a0004c0007a0004c0010others(2): Show | a0004c0005t0001a0004c0007t0001a0004c0010t0001others(2): Show | a0004c0005t0001g0022 a0004c0005t0001g0121 a0004c0005t0001g0134 others(12): Show |
17 | 358 | 0.0475 | 1 | c.145 others(5): Show |
p.Val others(5): Show |
GRIN2C | ENSG00000161509.14 | transcript | ENST00000293190.10 | protein_coding | 6/13 | 1616/4271 | 1459/3702 | 487/1233 | chr17 | TogoVar | |||
GUF1_chr4_44673420_44705928 | 44686024 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01433.hp2 HG01952.hp2 HG01975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0053 |
6 | 388 | 0.0155 | 0 | c.734 others(5): Show |
GUF1 | ENSG00000151806.14 | transcript | ENST00000281543.6 | protein_coding | 7/16 | chr4 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129547457 | A | AC | frameshift_variant | HIGH | HG01109.hp2 HG01175.hp2 HG01433.hp2 others(12): Show |
a0005a0010 | a0005c0007a0005c0017a0005c0018others(3): Show | a0005c0007t0001a0005c0007t0003a0005c0017t0001others(4): Show | a0005c0007t0001g0001 a0005c0007t0001g0002 a0005c0007t0001g0015 others(8): Show |
15 | 420 | 0.0357 | 1 | c.161 others(4): Show |
p.Val others(4): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2/5 | 206/1212 | 162/1041 | 54/346 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0008 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show |
112 | 330 | 0.3394 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
H2BW2 | ENSG00000101812.15 | transcript | ENST00000675318.3 | protein_coding | 1/4 | 238/870 | 199/447 | 67/148 | chrX | TogoVar | |||
H6PD_chr1_9229774_9276337 | 9244919 | CCCCAGGC others(1): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show |
a0001a0002a0018others(1): Show | a0001c0001a0001c0004a0001c0020others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0005others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0053 others(26): Show |
40 | 402 | 0.0995 | -8 | c.-7_ others(12): Show |
p.Met others(3): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 2/5 | 297/9147 | 1/2376 | 1/791 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
HBZ_chr16_147644_159503 | 153236 | GTTCCCTC others(6260): Show |
G | exon_loss_variant | HIGH | HG01433.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0041 | 1 | 393 | 0.0025 | -6267 | c.95+ others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112185241 | G | GC | frameshift_variant | HIGH | HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show |
a0002a0015 | a0002c0004a0002c0005a0002c0006others(2): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(6): Show | a0002c0004t0001g0155 a0002c0004t0003g0008 a0002c0004t0003g0015 others(19): Show |
22 | 267 | 0.0824 | 1 | c.972 others(5): Show |
p.Ala others(6): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 61/76 | 10027/15752 | 9724/13257 | 3242/4418 | chr12 | TogoVar | |||
HNRNPA1L2_chr13_52637431_52648773 | 52643320 | GA | G | frameshift_variant | HIGH | HG01255.hp2 HG01256.hp2 HG01361.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 6 | 434 | 0.0138 | -1 | c.830 others(4): Show |
p.Lys others(5): Show |
HNRNPA1L2 | ENSG00000139675.13 | transcript | ENST00000357495.5 | protein_coding | 1/1 | 892/1343 | 830/963 | 277/320 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
HNRNPCL4_chr1_13158914_13170631 | 13164682 | CT | C | frameshift_variant | HIGH | HG01433.hp1 HG01433.hp2 NA18954.hp2 others(2): Show |
a0003 | a0003c0005a0003c0009 | a0003c0005t0001a0003c0009t0001 | a0003c0005t0001g0000 a0003c0009t0001g0000 |
5 | 214 | 0.0234 | -1 | c.785 others(4): Show |
p.Gln others(5): Show |
HNRNPCL4 | ENSG00000179412.11 | transcript | ENST00000323770.8 | protein_coding | 1/1 | 949/1718 | 785/882 | 262/293 | chr1 | TogoVar |