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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8857942 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG01928.hp2 HG02080.hp2 others(10): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0005t0002others(1): Show | a0001c0001t0002g0177 a0001c0001t0002g0288 a0001c0002t0002g0159 others(10): Show |
13 | 366 | 0.0355 | 1 | c.310 others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 25/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17398350 | C | A | stop_gained | HIGH | NA18987.hp2 | a0013 | a0013c0066 | a0013c0066t0001 | a0013c0066t0001g0174 | 1 | 328 | 0.0030 | 0 | c.374 others(4): Show |
p.Glu others(5): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 30/39 | 3811/4921 | 3742/4746 | 1248/1581 | chr11 | TogoVar | |||
ACSM4_chr12_7299072_7333719 | 7322485 | C | T | stop_gained | HIGH | HG01168.hp1 HG01243.hp1 HG02572.hp1 others(10): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0001 | a0003c0004t0001g0013 a0003c0004t0001g0017 a0003c0004t0001g0050 others(2): Show |
13 | 428 | 0.0304 | 0 | c.106 others(4): Show |
p.Gln others(4): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 7/13 | 1329/2349 | 1069/1743 | 357/580 | chr12 | TogoVar | |||
AGAP5_chr10_73669295_73703109 | 73674703 | G | A | stop_gained | HIGH | HG00544.hp1 HG02074.hp2 HG02258.hp2 others(11): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002 | a0004c0004t0001g0207 a0004c0004t0002g0008 a0004c0004t0002g0021 others(6): Show |
14 | 366 | 0.0383 | 0 | c.195 others(4): Show |
p.Arg others(4): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 2311/2719 | 1957/2061 | 653/686 | chr10 | TogoVar | |||
AKNAD1_chr1_108810901_108862094 | 108825266 | AAGATGAT others(4064): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0025 | a0004c0004a0004c0008a0004c0036others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0004t0001g0020 a0004c0004t0001g0031 a0004c0004t0001g0034 others(23): Show |
32 | 396 | 0.0808 | -4071 | c.183 others(19): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/16 | chr1 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show |
372 | 388 | 0.9588 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(138): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(119): Show |
141 | 370 | 0.3811 | 0 | c.143 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 13/14 | 1621/2575 | 1439/1587 | 480/528 | chr5 | TogoVar | |||
ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0007a0014others(3): Show | a0002c0004a0002c0005a0002c0007others(13): Show | a0002c0004t0001a0002c0005t0001a0002c0007t0001others(13): Show | a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 others(95): Show |
101 | 296 | 0.3412 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show |
113 | 402 | 0.2811 | 0 | c.-98 others(6): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
ATP1B4_chrX_120357089_120388237 | 120366735 | T | TACCTGTG others(7): Show |
frameshift_variant | HIGH | NA18987.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0126 | 1 | 351 | 0.0028 | 14 | c.275 others(21): Show |
p.Glu others(4): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 2/8 | 369/4757 | 289/1074 | 97/357 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show |
a0002 | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show |
151 | 438 | 0.3447 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | TogoVar | |||
B3GNT7_chr2_231390710_231406164 | 231398140 | A | T | stop_gained | HIGH | NA18987.hp2 | a0007 | a0007c0009 | a0007c0009t0007 | a0007c0009t0007g0001 | 1 | 424 | 0.0024 | 0 | c.421 others(3): Show |
p.Lys others(4): Show |
B3GNT7 | ENSG00000156966.7 | transcript | ENST00000287590.6 | protein_coding | 2/2 | 515/3539 | 421/1206 | 141/401 | chr2 | TogoVar | |||
BHLHA15_chr7_98206439_98220457 | 98212311 | T | G | start_lost | HIGH | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0001 | 1 | 454 | 0.0022 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 2/2 | 116/3262 | 2/570 | 1/189 | chr7 | TogoVar | |||
BHLHA15_chr7_98206439_98220457 | 98212312 | G | C | start_lost | HIGH | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0001 | 1 | 454 | 0.0022 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 2/2 | 117/3262 | 3/570 | 1/189 | chr7 | TogoVar | |||
BIRC2_chr11_102342214_102383670 | 102377738 | A | T | stop_gained | HIGH | NA18987.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0144 | 1 | 342 | 0.0029 | 0 | c.160 others(4): Show |
p.Lys others(4): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 7/9 | 3029/3764 | 1609/1857 | 537/618 | chr11 | TogoVar | |||
BTNL2_chr6_32388339_32412181 | 32403192 | TG | T | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show |
a0003a0006 | a0003c0004a0003c0008a0003c0012others(3): Show | a0003c0004t0002a0003c0008t0001a0003c0012t0002others(3): Show | a0003c0004t0002g0043 a0003c0004t0002g0071 a0003c0004t0002g0072 others(35): Show |
69 | 452 | 0.1527 | -1 | c.451 others(4): Show |
p.His others(5): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 3/8 | 509/1564 | 451/1449 | 151/482 | chr6 | TogoVar | |||
C2orf42_chr2_70144885_70196019 | 70165549 | G | GT | frameshift_variant | HIGH | HG00597.hp2 HG00741.hp1 HG01109.hp1 others(12): Show |
a0003a0005 | a0003c0003a0003c0007a0005c0009 | a0003c0003t0001a0003c0007t0001a0005c0009t0001 | a0003c0003t0001g0016 a0003c0003t0001g0060 a0003c0003t0001g0077 others(12): Show |
15 | 344 | 0.0436 | 1 | c.123 others(5): Show |
p.Arg others(5): Show |
C2orf42 | ENSG00000115998.8 | transcript | ENST00000264434.7 | protein_coding | 7/10 | 1558/2524 | 1230/1725 | 410/574 | chr2 | TogoVar | |||
C2orf50_chr2_11128128_11156317 | 11133332 | A | AC | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(32): Show | a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show |
77 | 378 | 0.2037 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/3 | 208/7902 | 1/489 | 1/162 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
CABLES2_chr20_62383634_62412285 | 62406982 | C | CG | frameshift_variant | HIGH | HG00735.hp2 HG01952.hp1 HG02155.hp1 others(6): Show |
a0005a0010 | a0005c0009a0005c0012a0005c0013others(2): Show | a0005c0009t0001a0005c0009t0023a0005c0012t0002others(3): Show | a0005c0009t0001g0055 a0005c0009t0001g0057 a0005c0009t0001g0058 others(6): Show |
9 | 398 | 0.0226 | 1 | c.294 others(4): Show |
p.Ala others(4): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/10 | 303/3783 | 294/1437 | 98/478 | chr20 | TogoVar | |||
CAPN12_chr19_38725192_38749474 | 38737261 | G | GC | frameshift_variant | HIGH | HG01099.hp1 HG02056.hp2 HG02145.hp2 others(12): Show |
a0004a0010a0021 | a0004c0008a0004c0010a0004c0026others(3): Show | a0004c0008t0001a0004c0008t0003a0004c0008t0005others(6): Show | a0004c0008t0001g0131 a0004c0008t0001g0142 a0004c0008t0001g0143 others(12): Show |
15 | 338 | 0.0444 | 1 | c.125 others(5): Show |
p.Arg others(5): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/21 | 1565/3129 | 1256/2160 | 419/719 | chr19 | TogoVar | |||
CBX6_chr22_38856422_38877216 | 38866655 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG01358.hp1 HG02055.hp1 others(9): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0076 a0002c0002t0002g0130 a0002c0002t0003g0068 others(8): Show |
12 | 404 | 0.0297 | 1 | c.792 others(4): Show |
p.Ala others(5): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 5/5 | 818/6052 | 792/1239 | 264/412 | chr22 | TogoVar | |||
CCDC154_chr16_1429383_1449556 | 1443303 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA18987.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0116 | 1 | 414 | 0.0024 | 0 | c.415 others(5): Show |
CCDC154 | ENSG00000197599.13 | transcript | ENST00000389176.4 | protein_coding | 3/16 | chr16 | TogoVar | |||||||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
186 | 454 | 0.4097 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | |||
CD40_chr20_46113314_46134858 | 46128304 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG02145.hp1 HG03927.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 others(6): Show |
15 | 236 | 0.0636 | 3 | c.647 others(14): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | 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 | |||||||
CEL_chr9_133056981_133076861 | 133071402 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(11): Show |
28 | 410 | 0.0683 | 1 | c.190 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071403 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG02293.hp1 NA18987.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0038 others(1): Show |
4 | 399 | 0.0100 | -98 | c.190 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071433 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00621.hp1 HG00621.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(7): Show |
18 | 414 | 0.0435 | 1 | c.193 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | 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 | 133071535 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0020 | a0001c0001t0001a0001c0002t0001a0008c0020t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(11): Show |
42 | 414 | 0.1014 | -32 | c.204 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0014others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show |
175 | 482 | 0.3631 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | 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 | ||||||
CNDP2_chr18_74491363_74528454 | 74518947 | A | C | splice_acceptor_variant others(1): Show |
HIGH | NA18987.hp2 | a0008 | a0008c0015 | a0008c0015t0004 | a0008c0015t0004g0254 | 1 | 422 | 0.0024 | 0 | c.121 others(6): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | chr18 | TogoVar | |||||||
CNDP2_chr18_74491363_74528454 | 74518948 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA18987.hp2 | a0008 | a0008c0015 | a0008c0015t0004 | a0008c0015t0004g0254 | 1 | 422 | 0.0024 | 0 | c.121 others(6): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | chr18 | 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 | ||||||
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 | |||
CXCL16_chr17_4728533_4744928 | 4739338 | A | G | start_lost | HIGH | NA18987.hp2 NA18992.hp2 NA19065.hp2 |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0015 | 3 | 436 | 0.0069 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
CXCL16 | ENSG00000161921.17 | transcript | ENST00000293778.12 | protein_coding | 1/6 | 591/2324 | 2/765 | 1/254 | chr17 | TogoVar | |||
CYP21A2_chr6_32033415_32046644 | 32040182 | G | GT | frameshift_variant | HIGH | HG00544.hp1 HG00738.hp1 HG03688.hp1 others(6): Show |
a0010a0013a0017others(2): Show | a0010c0023a0010c0024a0013c0052others(4): Show | a0010c0023t0001a0010c0024t0001a0013c0052t0002others(4): Show | a0010c0023t0001g0011 a0010c0023t0001g0016 a0010c0024t0001g0001 others(5): Show |
9 | 458 | 0.0197 | 1 | c.923 others(4): Show |
p.Leu others(5): Show |
CYP21A2 | ENSG00000231852.9 | transcript | ENST00000644719.2 | protein_coding | 7/10 | 932/2006 | 924/1488 | 308/495 | INFO_REALIGN_3_PRIME | chr6 | 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 | ||
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show |
111 | 384 | 0.2891 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | 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 | |||
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 | |||
E2F2_chr1_23501438_23536233 | 23530541 | C | A | splice_donor_variant others(1): Show |
HIGH | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0052 | 1 | 394 | 0.0025 | 0 | c.252 others(5): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005 | a0002c0002a0002c0007a0002c0009others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show |
114 | 426 | 0.2676 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ECEL1_chr2_232474827_232492834 | 232487718 | C | G | splice_donor_variant others(1): Show |
HIGH | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0127 | 1 | 436 | 0.0023 | 0 | c.-10 others(6): Show |
ECEL1 | ENSG00000171551.12 | transcript | ENST00000304546.6 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136410362 | C | CG | frameshift_variant | HIGH | HG00558.hp1 HG01496.hp2 HG01952.hp1 others(13): Show |
a0003 | a0003c0005a0003c0007a0003c0008others(3): Show | a0003c0005t0001a0003c0005t0016a0003c0007t0002others(4): Show | a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 others(11): Show |
16 | 410 | 0.0390 | 1 | c.35d others(3): Show |
p.Leu others(4): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 1/10 | 252/2391 | 35/1308 | 12/435 | chr9 | TogoVar | |||
ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0008 | a0003c0003a0008c0019 | a0003c0003t0001a0008c0019t0001 | a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0021 others(12): Show |
63 | 456 | 0.1382 | 0 | c.667 others(3): Show |
p.Arg others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | 1202/3206 | 667/1815 | 223/604 | chr7 | TogoVar | |||
FOXD4L3_chr9_68297867_68310084 | 68303273 | A | T | stop_gained | HIGH | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show |
84 | 174 | 0.4828 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
FOXD4L3 | ENSG00000187559.6 | transcript | ENST00000342833.4 | protein_coding | 1/1 | 407/2218 | 322/1254 | 108/417 | chr9 | TogoVar |