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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDCP1_chr3_45077277_45151378 | 45118458 | GCAGCTAA others(34): Show |
G | frameshift_variant | HIGH | NA19043.hp2 | a0012 | a0012c0018 | a0012c0018t0018 | a0012c0018t0018g0154 | 1 | 382 | 0.0026 | -41 | c.205 others(48): Show |
p.Ser others(4): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 2/9 | 336/5963 | 205/2511 | 69/836 | chr3 | TogoVar | |||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show |
163 | 392 | 0.4158 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | |||
CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 362 | 0.0028 | 34 | c.195 others(43): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1982/2381 | 1960/2262 | 654/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071467 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show |
a0001a0008a0017 | a0001c0001a0001c0002a0008c0020others(1): Show | a0001c0001t0001a0001c0002t0001a0008c0020t0001others(1): Show | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(13): Show |
38 | 397 | 0.0957 | 1 | c.196 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | chr9 | TogoVar | |||
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(31): Show |
85 | 406 | 0.2094 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CFHR5_chr1_196972556_197014678 | 197008677 | T | A | stop_gained | HIGH | HG02965.hp1 NA19043.hp2 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0122 a0005c0008t0001g0123 |
2 | 354 | 0.0056 | 0 | c.170 others(4): Show |
p.Cys others(4): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 10/10 | 1813/2814 | 1704/1710 | 568/569 | chr1 | TogoVar | |||
CHIA_chr1_111285851_111325563 | 111319160 | A | ATACCCCT others(7): Show |
frameshift_variant | HIGH | NA19043.hp2 | a0016 | a0016c0021 | a0016c0021t0005 | a0016c0021t0005g0140 | 1 | 420 | 0.0024 | 14 | c.957 others(21): Show |
p.Ala others(5): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 10/12 | 1126/1696 | 958/1431 | 320/476 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
CHST12_chr7_2398611_2453484 | 2403653 | GCGCGAGG others(7): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG01106.hp1 HG02015.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0280a0001c0001t0281a0001c0001t0282others(5): Show | a0001c0001t0280g0132 a0001c0001t0281g0218 a0001c0001t0282g0217 others(5): Show |
8 | 342 | 0.0234 | -14 | c.-84 others(23): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/2 | 28960 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLEC4A_chr12_8118617_8143607 | 8138285 | T | C | stop_lost | HIGH | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0013a0002c0002t0019 | a0001c0001t0009g0017 a0001c0001t0009g0032 a0001c0001t0009g0098 others(2): Show |
7 | 456 | 0.0154 | 0 | c.712 others(3): Show |
p.Ter others(11): Show |
CLEC4A | ENSG00000111729.15 | transcript | ENST00000229332.12 | protein_coding | 6/6 | 974/1296 | 712/714 | 238/237 | chr12 | TogoVar | |||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show |
354 | 422 | 0.8389 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show |
137 | 215 | 0.6372 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103022374 | CCCAGGCA others(4463): Show |
C | exon_loss_variant | HIGH | NA19043.hp2 | a0017 | a0017c0028 | a0017c0028t0004 | a0017c0028t0004g0043 | 1 | 182 | 0.0055 | -4470 | c.781 others(16): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 8/67 | chr1 | TogoVar | |||||||
COL14A1_chr8_120120102_120378573 | 120280903 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02027.hp1 HG02293.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(4): Show | a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 others(10): Show |
13 | 95 | 0.1368 | 1 | c.368 others(7): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0001a0007a0008others(1): Show | a0001c0005a0001c0008a0001c0028others(3): Show | a0001c0005t0001a0001c0008t0001a0001c0028t0001others(3): Show | a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 others(19): Show |
41 | 436 | 0.0940 | 0 | c.976 others(3): Show |
p.Gln others(4): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 19/32 | 1065/2852 | 976/2070 | 326/689 | chr1 | TogoVar | |||
COX8C_chr14_93342182_93353356 | 93347347 | C | CACGCAGG others(4): Show |
frameshift_variant | HIGH | NA19043.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0013 | 1 | 426 | 0.0023 | 11 | c.79_ others(16): Show |
p.Arg others(4): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 1/2 | 167/542 | 80/219 | 27/72 | chr14 | TogoVar | |||
COX8C_chr14_93342182_93353356 | 93347360 | C | A | stop_gained | HIGH | NA19043.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0013 | 1 | 425 | 0.0024 | 0 | c.92C others(2): Show |
p.Ser others(3): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 1/2 | 179/542 | 92/219 | 31/72 | chr14 | TogoVar | |||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0016a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show |
275 | 343 | 0.8017 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show |
411 | 446 | 0.9215 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | |||||||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 others(89): Show |
114 | 372 | 0.3065 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CYP3A43_chr7_99823013_99871093 | 99836454 | TA | T | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show |
a0002 | a0002c0002a0002c0010a0002c0011others(3): Show | a0002c0002t0001a0002c0010t0001a0002c0011t0001others(3): Show | a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 others(28): Show |
37 | 324 | 0.1142 | -1 | c.74d others(3): Show |
p.Tyr others(4): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 2/13 | 177/1707 | 74/1512 | 25/503 | chr7 | TogoVar | |||
DAZ2_chrY_23214533_23296356 | 23239362 | CTGGTCAT others(11928): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00642.hp1 HG00673.hp1 others(20): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(20): Show |
23 | 49 | 0.4694 | -11935 | c.930 others(18): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DEFA1B_chr8_6991766_7004198 | 6992887 | GTGTGTAA others(11304): Show |
G | transcript_ablation | HIGH | HG01071.hp2 HG02257.hp1 HG03516.hp1 others(1): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 4 | 398 | 0.0101 | -11311 | c.-50 others(11): Show |
p.0? | DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
DEFB126_chr20_137590_150751 | 145514 | GCAAA | G | frameshift_variant | HIGH | HG00323.hp1 HG00642.hp2 HG00673.hp1 others(58): Show |
a0003 | a0003c0003a0003c0006a0003c0009 | a0003c0003t0001a0003c0006t0001a0003c0009t0001 | a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 others(5): Show |
61 | 458 | 0.1332 | -4 | c.163 others(11): Show |
p.Gln others(4): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 202/434 | 163/336 | 55/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0006t0001others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show |
232 | 458 | 0.5066 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00642.hp1 HG01993.hp1 HG02074.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0002t0012a0001c0003t0006others(8): Show | a0001c0001t0015g0166 a0001c0002t0012g0049 a0001c0003t0006g0262 others(10): Show |
13 | 27 | 0.4815 | 10 | c.623 others(22): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | 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 | ||
DNAH8_chr6_38710311_39035792 | 38770561 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01255.hp2 HG01891.hp1 HG02559.hp1 others(6): Show |
a0009a0012a0015others(4): Show | a0009c0127a0012c0126a0015c0044others(5): Show | a0009c0127t0001a0012c0126t0001a0015c0044t0001others(5): Show | a0009c0127t0001g0146 a0012c0126t0001g0222 a0015c0044t0001g0021 others(6): Show |
9 | 284 | 0.0317 | 0 | c.176 others(6): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | chr6 | TogoVar | |||||||
DPPA4_chr3_109321144_109342546 | 109337516 | A | G | start_lost | HIGH | HG01081.hp1 HG01175.hp2 HG01884.hp2 others(22): Show |
a0003 | a0003c0004a0003c0006a0003c0009others(1): Show | a0003c0004t0002a0003c0004t0004a0003c0006t0002others(2): Show | a0003c0004t0002g0017 a0003c0004t0002g0025 a0003c0004t0002g0026 others(16): Show |
25 | 414 | 0.0604 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1/7 | 31/2788 | 2/915 | 1/304 | chr3 | TogoVar | |||
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0174 others(104): Show |
112 | 394 | 0.2843 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | 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 | |||||||
EBLN1_chr10_22203475_22223015 | 22209191 | C | A | stop_gained | HIGH | NA19043.hp1 | a0010 | a0010c0017 | a0010c0017t0012 | a0010c0017t0012g0067 | 1 | 430 | 0.0023 | 0 | c.793 others(3): Show |
p.Glu others(4): Show |
EBLN1 | ENSG00000223601.3 | transcript | ENST00000422359.3 | protein_coding | 3/3 | 1061/1777 | 793/1101 | 265/366 | chr10 | TogoVar | |||
ECD_chr10_73128668_73173008 | 73163951 | CTA | C | splice_acceptor_variant others(2): Show |
HIGH | HG01074.hp1 HG01346.hp2 HG01884.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 others(5): Show |
9 | 270 | 0.0333 | -2 | c.-13 others(13): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
ENDOV_chr17_80410167_80443086 | 80415648 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 418 | 0.0024 | 0 | c.57- others(4): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
EOGT_chr3_68970225_69018684 | 69004436 | T | A | stop_gained | HIGH | HG00735.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
a0003 | a0003c0008 | a0003c0008t0001a0003c0008t0005a0003c0008t0029others(2): Show | a0003c0008t0001g0035 a0003c0008t0005g0036 a0003c0008t0029g0038 others(2): Show |
5 | 442 | 0.0113 | 0 | c.562 others(3): Show |
p.Lys others(4): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 8/18 | 1028/4443 | 562/1584 | 188/527 | chr3 | 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 | |||||||
EPPK1_chr8_143852324_143883467 | 143861843 | C | CCCTGGGC others(9552): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0155 | a0155c0129 | a0155c0129t0001 | a0155c0129t0001g0242 | 1 | 422 | 0.0024 | 9559 | c.114 others(9570): Show |
p.Gly others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11485/16005 | 11410/15267 | 3804/5088 | chr8 | TogoVar | |||
ESYT3_chr3_138429616_138484925 | 138451869 | G | GCCAGGGC others(173): Show |
stop_gained others(1): Show |
HIGH | HG01884.hp1 HG02451.hp1 HG02486.hp2 others(9): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0002c0002others(1): Show | a0001c0004t0003a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0004t0003g0101 a0001c0005t0001g0125 a0002c0002t0001g0040 others(5): Show |
12 | 336 | 0.0357 | 180 | c.328 others(191): Show |
p.Ile others(193): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 2/23 | 516/5915 | 333/2661 | 111/886 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show |
126 | 448 | 0.2813 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | |||
FAM228B_chr2_24118469_24174638 | 24164308 | GC | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(17): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0002 | a0003c0004t0001g0091 a0003c0004t0001g0093 a0003c0004t0001g0094 others(17): Show |
20 | 288 | 0.0694 | -1 | c.907 others(4): Show |
p.Gln others(5): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/11 | 1004/1369 | 907/975 | 303/324 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
FAM90A17_chr8_7741034_7754044 | 7747419 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show |
a0001a0002a0005others(21): Show | a0001c0001a0001c0015a0002c0005others(26): Show | a0001c0001t0001a0001c0015t0001a0002c0005t0001others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): Show |
76 | 108 | 0.7037 | 0 | c.432 others(5): Show |
FAM90A17 | ENSG00000285720.1 | transcript | ENST00000650426.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A18_chr8_7718091_7731101 | 7724476 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(26): Show |
a0001a0003a0004others(18): Show | a0001c0002a0001c0017a0003c0001others(19): Show | a0001c0002t0001a0001c0017t0001a0003c0001t0001others(19): Show | a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0017t0001g0030 others(24): Show |
29 | 44 | 0.6591 | 0 | c.432 others(5): Show |
FAM90A18 | ENSG00000285913.1 | transcript | ENST00000647769.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A7_chr8_7551700_7564712 | 7558326 | A | G | splice_donor_variant others(1): Show |
HIGH | HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0010a0003c0006others(11): Show | a0001c0001t0001a0002c0010t0001a0003c0006t0001others(11): Show | a0001c0001t0001g0001 a0002c0010t0001g0009 a0003c0006t0001g0006 others(11): Show |
15 | 18 | 0.8333 | 0 | c.432 others(5): Show |
FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A7_chr8_7551700_7564712 | 7559000 | AAGGTCGC others(5705): Show |
A | exon_loss_variant | HIGH | NA19043.hp2 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0017 | 1 | 18 | 0.0556 | -5712 | c.-50 others(9): Show |
FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/4 | 217/1395 | chr8 | TogoVar | ||||||
FAM90A8_chr8_7733387_7746396 | 7739771 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001a0003a0004others(28): Show | a0001c0001a0003c0003a0003c0006others(29): Show | a0001c0001t0001a0003c0003t0001a0003c0006t0001others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0016 others(53): Show |
72 | 108 | 0.6667 | 0 | c.432 others(5): Show |
FAM90A8 | ENSG00000285937.1 | transcript | ENST00000647775.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0004a0010others(2): Show | a0003c0002a0004c0004a0010c0014others(2): Show | a0003c0002t0001a0004c0004t0001a0010c0014t0001others(2): Show | a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 others(37): Show |
43 | 235 | 0.1830 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 others(107): Show |
114 | 236 | 0.4831 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108867763 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02559.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0002a0001c0001t0009a0001c0004t0006others(2): Show | a0001c0001t0002g0115 a0001c0001t0009g0082 a0001c0004t0006g0078 others(4): Show |
7 | 136 | 0.0515 | 1 | c.482 others(6): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FEZF2_chr3_62364681_62378550 | 62372516 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00642.hp1 HG01261.hp1 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0002g0005 others(2): Show |
25 | 418 | 0.0598 | 1 | c.352 others(4): Show |
p.Ala others(5): Show |
FEZF2 | ENSG00000153266.13 | transcript | ENST00000283268.8 | protein_coding | 2/5 | 682/2112 | 352/1380 | 118/459 | chr3 | TogoVar |