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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD18_chr4_127960406_128044953 | 127983049 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 NA18977.hp2 NA19005.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0020a0002c0002t0053 | a0002c0002t0001g0286a0002c0002t0001g0322a0002c0002t0020g0308others(1): Show | 4 | 344 | 0.0116 | 0 | c.92+ others(4): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | ||
ACTR3C_chr7_150242212_150328545 | 150286477 | G | A | stop_gained | HIGH | HG00741.hp1 HG02698.hp1 HG02976.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0095a0003c0003t0001g0136a0003c0003t0001g0177others(5): Show | 8 | 294 | 0.0272 | 0 | c.361 others(3): Show |
p.Gln others(4): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 5/8 | 489/1157 | 361/633 | 121/210 | chr7 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134537643 | C | CA | frameshift_variant | HIGH | HG01261.hp2 HG01978.hp1 HG02055.hp2 others(14): Show |
a0004a0006 | a0004c0005a0004c0006a0004c0015others(1): Show | a0004c0005t0001a0004c0006t0001a0004c0006t0002others(4): Show | a0004c0005t0001g0004a0004c0005t0001g0020a0004c0005t0001g0047others(12): Show | 17 | 448 | 0.0380 | 1 | c.730 others(4): Show |
p.Thr others(5): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 7/10 | 1076/1619 | 731/951 | 244/316 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 373 | 390 | 0.9564 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 209 | 394 | 0.5305 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKRD30A_chr10_37120598_37237567 | 37170147 | GTTTTTTT others(11786): Show |
G | exon_loss_variant | HIGH | HG01981.hp1 HG02056.hp2 HG03098.hp1 others(15): Show |
a0004a0010a0020others(1): Show | a0004c0004a0004c0054a0010c0012others(3): Show | a0004c0004t0002a0004c0054t0002a0010c0012t0001others(3): Show | a0004c0004t0002g0269a0004c0004t0002g0270a0004c0004t0002g0271others(15): Show | 18 | 286 | 0.0629 | -11793 | c.225 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANKRD35_chr1_145861564_145890866 | 145873259 | G | A | stop_gained | HIGH | NA18977.hp2 NA18998.hp2 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0060a0013c0017t0001g0062 | 2 | 400 | 0.0050 | 0 | c.151 others(4): Show |
p.Arg others(4): Show |
ANKRD35 | ENSG00000198483.13 | transcript | ENST00000355594.9 | protein_coding | 10/14 | 1618/3359 | 1510/3006 | 504/1001 | chr1 | TogoVar | ||
ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0002c0001t0010a0004c0007t0001 | a0002c0001t0001g0001a0002c0001t0001g0009a0002c0001t0001g0015others(58): Show | 64 | 408 | 0.1569 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
APBA3_chr19_3745772_3766692 | 3760243 | G | A | stop_gained | HIGH | NA18977.hp2 NA18989.hp2 NA19065.hp1 |
a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0055a0006c0011t0002g0086a0006c0011t0002g0087 | 3 | 450 | 0.0067 | 0 | c.22C others(2): Show |
p.Arg others(2): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 2/11 | 216/2176 | 22/1728 | 8/575 | chr19 | TogoVar | ||
ARHGEF5_chr7_144350402_144385632 | 144362670 | A | ATGGAGGC others(15): Show |
frameshift_variant others(1): Show |
HIGH | HG01496.hp1 HG01884.hp2 NA18951.hp1 others(6): Show |
a0009 | a0009c0026a0009c0070a0009c0071others(5): Show | a0009c0026t0001a0009c0070t0001a0009c0071t0001others(5): Show | a0009c0026t0001g0046a0009c0026t0001g0050a0009c0070t0001g0184others(6): Show | 9 | 288 | 0.0313 | 22 | c.7_2 others(26): Show |
p.Ala others(4): Show |
ARHGEF5 | ENSG00000050327.15 | transcript | ENST00000056217.10 | protein_coding | 2/15 | 141/5482 | 29/4794 | 10/1597 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
ARHGEF5_chr7_144350402_144385632 | 144365108 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00597.hp2 HG00673.hp1 others(14): Show |
a0009a0015a0016others(11): Show | a0009c0073a0015c0024a0016c0054others(12): Show | a0009c0073t0001a0015c0024t0001a0016c0054t0001others(12): Show | a0009c0073t0001g0049a0015c0024t0001g0089a0015c0024t0001g0092others(14): Show | 17 | 288 | 0.0590 | 1 | c.244 others(5): Show |
p.Thr others(5): Show |
ARHGEF5 | ENSG00000050327.15 | transcript | ENST00000056217.10 | protein_coding | 2/15 | 2557/5482 | 2445/4794 | 815/1597 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
ARL9_chr4_56500791_56529453 | 56505976 | TAAAC | T | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0004a0003c0007t0001 | a0003c0003t0001g0008a0003c0003t0001g0010a0003c0003t0001g0015others(41): Show | 61 | 416 | 0.1466 | -4 | c.118 others(11): Show |
p.Gln others(4): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 190/1447 | 118/798 | 40/265 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(420): Show |
frameshift_variant others(1): Show |
HIGH | NA18977.hp1 | a0024 | a0024c0061 | a0024c0061t0001 | a0024c0061t0001g0018 | 1 | 326 | 0.0031 | 427 | c.546 others(436): Show |
p.Ala others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARMS2_chr10_122449653_122462352 | 122454839 | C | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003a0003c0003t0001g0016a0003c0003t0001g0018others(4): Show | 61 | 424 | 0.1439 | 0 | c.112 others(3): Show |
p.Arg others(3): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 1/2 | 187/818 | 112/324 | 38/107 | chr10 | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(163): Show | 173 | 362 | 0.4779 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | ||
ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show |
a0002a0004a0005others(4): Show | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280others(144): Show | 152 | 440 | 0.3455 | 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 | ||
BRIX1_chr5_34910711_34930996 | 34925207 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(26): Show | 80 | 440 | 0.1818 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | ||||||
C14orf180_chr14_104574764_104595515 | 104587748 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG02056.hp1 HG02074.hp1 others(5): Show |
a0000 | a0000c0007 | a0000c0007t0004 | a0000c0007t0004g0008 | 8 | 433 | 0.0185 | 0 | c.112 others(5): Show |
C14orf180 | ENSG00000184601.11 | transcript | ENST00000557649.6 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(98): Show | 157 | 372 | 0.4220 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13207516 | C | CG | frameshift_variant | HIGH | HG01106.hp1 HG01109.hp1 HG01255.hp2 others(15): Show |
a0009a0010a0014others(5): Show | a0009c0014a0009c0051a0009c0076others(13): Show | a0009c0014t0002a0009c0014t0046a0009c0051t0002others(14): Show | a0009c0014t0002g0048a0009c0014t0002g0195a0009c0014t0046g0176others(15): Show | 18 | 218 | 0.0826 | 1 | c.731 others(5): Show |
p.Val others(6): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7572/8647 | 7317/7521 | 2439/2506 | chr19 | TogoVar | ||
CAMSAP3_chr19_7590863_7623304 | 7610688 | TCCCACCT others(4): Show |
T | splice_acceptor_variant others(2): Show |
HIGH | NA18977.hp1 | a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0147 | 1 | 358 | 0.0028 | -11 | c.901 others(23): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 6/16 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48249131 | AGGTTGCA others(5998): Show |
A | exon_loss_variant | HIGH | NA18977.hp1 NA19001.hp2 |
a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0158a0001c0004t0025g0159 | 2 | 362 | 0.0055 | -6005 | c.-25 others(16): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 3/14 | chr19 | TogoVar | ||||||
CATSPERG_chr19_38330830_38375943 | 38362379 | T | TACTACTT others(22): Show |
frameshift_variant | HIGH | NA18977.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0173 | 1 | 376 | 0.0027 | 29 | c.216 others(38): Show |
p.Ser others(5): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 19/29 | 2252/3691 | 2192/3480 | 731/1159 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CBARP_chr19_1223287_1243005 | 1229582 | C | CG | frameshift_variant | HIGH | HG02055.hp1 HG03669.hp1 HG03831.hp1 others(11): Show |
a0000 | a0000c0006a0000c0015a0000c0022others(3): Show | a0000c0006t0001a0000c0006t0006a0000c0006t0011others(7): Show | a0000c0006t0001g0071a0000c0006t0001g0088a0000c0006t0001g0124others(11): Show | 14 | 408 | 0.0343 | 1 | c.171 others(5): Show |
p.Arg others(5): Show |
CBARP | ENSG00000099625.14 | transcript | ENST00000650044.2 | protein_coding | 10/10 | 1985/3281 | 1714/2118 | 572/705 | chr19 | TogoVar | ||
CBY2_chr13_45697320_45719559 | 45713882 | C | A | stop_gained | HIGH | HG00140.hp2 HG00597.hp2 HG01928.hp1 others(33): Show |
a0003 | a0003c0003a0003c0015a0003c0019 | a0003c0003t0001a0003c0015t0001a0003c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0004a0003c0003t0001g0007others(6): Show | 36 | 440 | 0.0818 | 0 | c.857 others(3): Show |
p.Ser others(4): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 928/1605 | 857/1347 | 286/448 | chr13 | TogoVar | ||
CCDC138_chr2_108781771_108881578 | 108788018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(75): Show | 79 | 220 | 0.3591 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
CCDC7_chr10_32441140_32887864 | 32518506 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show |
a0001a0020 | a0001c0002a0020c0018 | a0001c0002t0001a0020c0018t0001 | a0001c0002t0001g0125a0001c0002t0001g0126a0001c0002t0001g0127others(44): Show | 47 | 368 | 0.1277 | 0 | c.993 others(5): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 12/43 | chr10 | TogoVar | ||||||
CD40_chr20_46113314_46134858 | 46128304 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0019others(44): Show | 118 | 416 | 0.2837 | 2 | c.647 others(13): 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(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133071370 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00642.hp2 HG02145.hp2 NA18960.hp1 others(5): Show |
a0001a0007 | a0001c0068a0007c0113a0007c0115others(5): Show | a0001c0068t0001a0007c0113t0001a0007c0115t0002others(5): Show | a0001c0068t0001g0008a0007c0113t0001g0003a0007c0115t0002g0001others(5): Show | 8 | 416 | 0.0192 | -32 | c.187 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071435 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show |
a0001a0005a0006others(5): Show | a0001c0019a0001c0055a0001c0063others(19): Show | a0001c0019t0001a0001c0055t0001a0001c0063t0001others(19): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(20): Show | 23 | 416 | 0.0553 | 1 | c.194 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG02071.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0013a0068 | a0001c0076a0013c0013a0013c0033others(4): Show | a0001c0076t0002a0013c0013t0001a0013c0033t0001others(4): Show | a0001c0076t0002g0071a0013c0013t0001g0001a0013c0013t0001g0055others(8): Show | 11 | 416 | 0.0264 | -32 | c.197 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show |
a0001a0002a0004others(26): Show | a0001c0019a0001c0020a0001c0054others(112): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(112): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(140): Show | 182 | 416 | 0.4375 | 1 | c.204 others(5): 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 | |
CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 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 | |
CEL_chr9_133056981_133076861 | 133071600 | G | GC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show |
a0001a0002a0004others(11): Show | a0001c0019a0001c0055a0001c0058others(42): Show | a0001c0019t0001a0001c0055t0001a0001c0058t0001others(42): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(44): Show | 47 | 416 | 0.1130 | 1 | c.210 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2129/2381 | 2107/2262 | 703/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CENPI_chrX_101093204_101171126 | 101145096 | T | TG | frameshift_variant | HIGH | NA18977.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0113 | 1 | 282 | 0.0036 | 1 | c.159 others(5): Show |
p.Ser others(5): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 17/22 | 1754/5584 | 1600/2271 | 534/756 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CEP89_chr19_32870925_32976958 | 32879164 | A | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show |
a0000 | a0000c0005a0000c0007a0000c0012 | a0000c0005t0005a0000c0005t0019a0000c0005t0020others(7): Show | a0000c0005t0005g0097a0000c0005t0005g0098a0000c0005t0005g0099others(46): Show | 49 | 386 | 0.1269 | 0 | c.235 others(4): Show |
p.Ter others(11): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 19/19 | 2434/5673 | 2350/2352 | 784/783 | chr19 | 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 |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 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 | ||
CKM_chr19_45301413_45327875 | 45306752 | A | G | stop_lost | HIGH | NA18977.hp2 | a0000 | a0000c0013 | a0000c0013t0001 | a0000c0013t0001g0252 | 1 | 392 | 0.0026 | 0 | c.114 others(4): Show |
p.Ter others(11): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 8/8 | 1217/1556 | 1144/1146 | 382/381 | chr19 | TogoVar | ||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG02165.hp1 NA18964.hp1 NA18968.hp2 others(2): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0015a0002c0004t0001g0015a0002c0004t0001g0078 | 5 | 444 | 0.0113 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CMA1_chr14_24500353_24513265 | 24507451 | G | T | stop_gained | HIGH | HG02015.hp2 NA18977.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0012 | 2 | 432 | 0.0046 | 0 | c.114 others(3): Show |
p.Tyr others(3): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 2/5 | 144/937 | 114/744 | 38/247 | chr14 | TogoVar | ||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0003a0008a0009others(1): Show | a0003c0005a0003c0008a0003c0028others(3): Show | a0003c0005t0001a0003c0008t0001a0003c0028t0001others(3): Show | a0003c0005t0001g0004a0003c0005t0001g0045a0003c0005t0001g0046others(19): Show | 41 | 438 | 0.0936 | 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 | ||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |