forked from sib-swiss/taccession
-
Notifications
You must be signed in to change notification settings - Fork 0
/
Copy pathresults-variants.tsv
We can make this file beautiful and searchable if this error is corrected: It looks like row 2 should actually have 1 column, instead of 2 in line 1.
1241 lines (1104 loc) · 80.3 KB
/
results-variants.tsv
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
109
110
111
112
113
114
115
116
117
118
119
120
121
122
123
124
125
126
127
128
129
130
131
132
133
134
135
136
137
138
139
140
141
142
143
144
145
146
147
148
149
150
151
152
153
154
155
156
157
158
159
160
161
162
163
164
165
166
167
168
169
170
171
172
173
174
175
176
177
178
179
180
181
182
183
184
185
186
187
188
189
190
191
192
193
194
195
196
197
198
199
200
201
202
203
204
205
206
207
208
209
210
211
212
213
214
215
216
217
218
219
220
221
222
223
224
225
226
227
228
229
230
231
232
233
234
235
236
237
238
239
240
241
242
243
244
245
246
247
248
249
250
251
252
253
254
255
256
257
258
259
260
261
262
263
264
265
266
267
268
269
270
271
272
273
274
275
276
277
278
279
280
281
282
283
284
285
286
287
288
289
290
291
292
293
294
295
296
297
298
299
300
301
302
303
304
305
306
307
308
309
310
311
312
313
314
315
316
317
318
319
320
321
322
323
324
325
326
327
328
329
330
331
332
333
334
335
336
337
338
339
340
341
342
343
344
345
346
347
348
349
350
351
352
353
354
355
356
357
358
359
360
361
362
363
364
365
366
367
368
369
370
371
372
373
374
375
376
377
378
379
380
381
382
383
384
385
386
387
388
389
390
391
392
393
394
395
396
397
398
399
400
401
402
403
404
405
406
407
408
409
410
411
412
413
414
415
416
417
418
419
420
421
422
423
424
425
426
427
428
429
430
431
432
433
434
435
436
437
438
439
440
441
442
443
444
445
446
447
448
449
450
451
452
453
454
455
456
457
458
459
460
461
462
463
464
465
466
467
468
469
470
471
472
473
474
475
476
477
478
479
480
481
482
483
484
485
486
487
488
489
490
491
492
493
494
495
496
497
498
499
500
501
502
503
504
505
506
507
508
509
510
511
512
513
514
515
516
517
518
519
520
521
522
523
524
525
526
527
528
529
530
531
532
533
534
535
536
537
538
539
540
541
542
543
544
545
546
547
548
549
550
551
552
553
554
555
556
557
558
559
560
561
562
563
564
565
566
567
568
569
570
571
572
573
574
575
576
577
578
579
580
581
582
583
584
585
586
587
588
589
590
591
592
593
594
595
596
597
598
599
600
601
602
603
604
605
606
607
608
609
610
611
612
613
614
615
616
617
618
619
620
621
622
623
624
625
626
627
628
629
630
631
632
633
634
635
636
637
638
639
640
641
642
643
644
645
646
647
648
649
650
651
652
653
654
655
656
657
658
659
660
661
662
663
664
665
666
667
668
669
670
671
672
673
674
675
676
677
678
679
680
681
682
683
684
685
686
687
688
689
690
691
692
693
694
695
696
697
698
699
700
701
702
703
704
705
706
707
708
709
710
711
712
713
714
715
716
717
718
719
720
721
722
723
724
725
726
727
728
729
730
731
732
733
734
735
736
737
738
739
740
741
742
743
744
745
746
747
748
749
750
751
752
753
754
755
756
757
758
759
760
761
762
763
764
765
766
767
768
769
770
771
772
773
774
775
776
777
778
779
780
781
782
783
784
785
786
787
788
789
790
791
792
793
794
795
796
797
798
799
800
801
802
803
804
805
806
807
808
809
810
811
812
813
814
815
816
817
818
819
820
821
822
823
824
825
826
827
828
829
830
831
832
833
834
835
836
837
838
839
840
841
842
843
844
845
846
847
848
849
850
851
852
853
854
855
856
857
858
859
860
861
862
863
864
865
866
867
868
869
870
871
872
873
874
875
876
877
878
879
880
881
882
883
884
885
886
887
888
889
890
891
892
893
894
895
896
897
898
899
900
901
902
903
904
905
906
907
908
909
910
911
912
913
914
915
916
917
918
919
920
921
922
923
924
925
926
927
928
929
930
931
932
933
934
935
936
937
938
939
940
941
942
943
944
945
946
947
948
949
950
951
952
953
954
955
956
957
958
959
960
961
962
963
964
965
966
967
968
969
970
971
972
973
974
975
976
977
978
979
980
981
982
983
984
985
986
987
988
989
990
991
992
993
994
995
996
997
998
999
1000
Found 991 matches for variant-hgvs-cDNA-deletion patterns :(c)\.((?:-|\*)?\d+)((?:\+|\-)\d+)?(?:_((?:-|\*)?\d+)((?:\+|\-)\d+)?)?del
Show top 20 journals for variant-hgvs-cDNA-deletion : (journal, pattern, count)
PLoS_One variant-hgvs-cDNA-deletion 152
Orphanet_J_Rare_Dis variant-hgvs-cDNA-deletion 104
BMC_Med_Genet variant-hgvs-cDNA-deletion 87
Mol_Vis variant-hgvs-cDNA-deletion 68
J_Med_Genet variant-hgvs-cDNA-deletion 61
Biomark_Res variant-hgvs-cDNA-deletion 32
Eur_J_Hum_Genet variant-hgvs-cDNA-deletion 30
Springerplus variant-hgvs-cDNA-deletion 28
BMC_Genomics variant-hgvs-cDNA-deletion 28
Mol_Genet_Genomic_Med variant-hgvs-cDNA-deletion 22
Brain variant-hgvs-cDNA-deletion 22
Fam_Cancer variant-hgvs-cDNA-deletion 18
Sci_Rep variant-hgvs-cDNA-deletion 18
Hum_Mutat variant-hgvs-cDNA-deletion 17
J_Hum_Genet variant-hgvs-cDNA-deletion 16
BMC_Genet variant-hgvs-cDNA-deletion 16
Hum_Genome_Var variant-hgvs-cDNA-deletion 15
Anemia variant-hgvs-cDNA-deletion 15
Hered_Cancer_Clin_Pract variant-hgvs-cDNA-deletion 14
Curr_Genomics variant-hgvs-cDNA-deletion 13
Show top 20 journal where distinct words are counted variant-hgvs-cDNA-deletion : (journal, pattern, distinct words count)
PLoS_One variant-hgvs-cDNA-deletion 59
Orphanet_J_Rare_Dis variant-hgvs-cDNA-deletion 59
BMC_Med_Genet variant-hgvs-cDNA-deletion 46
Mol_Vis variant-hgvs-cDNA-deletion 44
J_Med_Genet variant-hgvs-cDNA-deletion 42
Eur_J_Hum_Genet variant-hgvs-cDNA-deletion 28
Mol_Genet_Genomic_Med variant-hgvs-cDNA-deletion 19
Springerplus variant-hgvs-cDNA-deletion 19
Fam_Cancer variant-hgvs-cDNA-deletion 18
Sci_Rep variant-hgvs-cDNA-deletion 17
J_Hum_Genet variant-hgvs-cDNA-deletion 16
Curr_Genomics variant-hgvs-cDNA-deletion 13
Hum_Genome_Var variant-hgvs-cDNA-deletion 12
BMC_Genet variant-hgvs-cDNA-deletion 11
Brain variant-hgvs-cDNA-deletion 11
Diagn_Pathol variant-hgvs-cDNA-deletion 10
Acta_Neuropathol_Commun variant-hgvs-cDNA-deletion 10
Anemia variant-hgvs-cDNA-deletion 10
Case_Rep_Neurol_Med variant-hgvs-cDNA-deletion 9
Hum_Mutat variant-hgvs-cDNA-deletion 8
Show top 20 words for variant-hgvs-cDNA-deletion : (word, pattern, count)
c.3321delA variant-hgvs-cDNA-deletion 65
c.2904-2905delAG variant-hgvs-cDNA-deletion 19
c.658_659delGT variant-hgvs-cDNA-deletion 17
c.1733delC variant-hgvs-cDNA-deletion 16
c.802-8_810del17insGC variant-hgvs-cDNA-deletion 14
c.2708_2711delTTAG variant-hgvs-cDNA-deletion 13
c.5946delT variant-hgvs-cDNA-deletion 13
c.312_320del10insAT variant-hgvs-cDNA-deletion 11
c.70del20 variant-hgvs-cDNA-deletion 10
c.1164del1 variant-hgvs-cDNA-deletion 9
c.312_320del10insAT, variant-hgvs-cDNA-deletion 9
c.2944_2944delA variant-hgvs-cDNA-deletion 8
c.2975_2978delAG variant-hgvs-cDNA-deletion 8
c.792_793delAG variant-hgvs-cDNA-deletion 8
c.1114_1116del; variant-hgvs-cDNA-deletion 7
c.153del variant-hgvs-cDNA-deletion 7
c.771_778delTTGAAAAGinsCATC variant-hgvs-cDNA-deletion 6
c.1100delC variant-hgvs-cDNA-deletion 6
c.1521_1523delCTT variant-hgvs-cDNA-deletion 6
c.68_69del variant-hgvs-cDNA-deletion 6
Show sample for variant-hgvs-cDNA-deletion : (word, journal, publication, pattern, count, line, offset, length)
c.1526delC Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-deletion 50 81 10
c.558delA Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-deletion 50 123 9
c.558delA Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-deletion 96 5 9
c.1193_1194delTG; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-deletion 98 4 17
c.1526delG; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-deletion 101 4 11
c.558delA Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-deletion 102 5 9
c.1526delG Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-deletion 104 3 10
c.351_353delTGG Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-deletion 127 0 15
c.673_708del BMC_Womens_Health ./BMC_Womens_Health/BMC_Womens_Health_2005_May_26_5_8.txt variant-hgvs-cDNA-deletion 93 1 12
c.798_799delTT, Int_J_Med_Sci ./Int_J_Med_Sci/Int_J_Med_Sci_2008_Jul_8_5(4)_197-202.txt variant-hgvs-cDNA-deletion 33 1 15
c.798_799delTT Int_J_Med_Sci ./Int_J_Med_Sci/Int_J_Med_Sci_2008_Jul_8_5(4)_197-202.txt variant-hgvs-cDNA-deletion 140 1 14
c.798_799delTT Int_J_Med_Sci ./Int_J_Med_Sci/Int_J_Med_Sci_2008_Jul_8_5(4)_197-202.txt variant-hgvs-cDNA-deletion 142 10 14
c.798_799delTT, Int_J_Med_Sci ./Int_J_Med_Sci/Int_J_Med_Sci_2008_Jul_8_5(4)_197-202.txt variant-hgvs-cDNA-deletion 184 5 15
c.1408-35_1408-6del30N Cilia ./Cilia/Cilia_2012_Oct_1_1_18.txt variant-hgvs-cDNA-deletion 65 5 22
(c.325delC) Exp_Eye_Res ./Exp_Eye_Res/Exp_Eye_Res_2016_May_1_146_276-282.txt variant-hgvs-cDNA-deletion 16 30 11
c.2193_2197del5 Fam_Cancer ./Fam_Cancer/Fam_Cancer_2010_Jun_1_9(2)_193-201.txt variant-hgvs-cDNA-deletion 59 1 15
c.5213_5216del4 Fam_Cancer ./Fam_Cancer/Fam_Cancer_2010_Jun_1_9(2)_193-201.txt variant-hgvs-cDNA-deletion 59 4 15
c.2646_2648delTGC Fam_Cancer ./Fam_Cancer/Fam_Cancer_2010_Jun_1_9(2)_193-201.txt variant-hgvs-cDNA-deletion 62 1 17
c.6275_6576delTT Fam_Cancer ./Fam_Cancer/Fam_Cancer_2010_Jun_1_9(2)_193-201.txt variant-hgvs-cDNA-deletion 62 4 16
c.2685_2686delAA Fam_Cancer ./Fam_Cancer/Fam_Cancer_2010_Jun_1_9(2)_193-201.txt variant-hgvs-cDNA-deletion 63 1 16
* * * * * * * * * * * * * *
Found 25 matches for variant-hgvs-cDNA-deletion-insertion patterns :(c)\.((?:-|\*)?\d+)((?:\+|\-)\d+)?(?:_((?:-|\*)?\d+)((?:\+|\-)\d+)?)?delins[A-Z]+
Show top 20 journals for variant-hgvs-cDNA-deletion-insertion : (journal, pattern, count)
BMC_Med_Genet variant-hgvs-cDNA-deletion-insertion 8
PLoS_One variant-hgvs-cDNA-deletion-insertion 6
Orphanet_J_Rare_Dis variant-hgvs-cDNA-deletion-insertion 3
Brain variant-hgvs-cDNA-deletion-insertion 2
J_Exp_Med variant-hgvs-cDNA-deletion-insertion 2
Acta_Neuropathol_Commun variant-hgvs-cDNA-deletion-insertion 1
Arq_Bras_Cardiol variant-hgvs-cDNA-deletion-insertion 1
J_Hum_Genet variant-hgvs-cDNA-deletion-insertion 1
Br_J_Cancer variant-hgvs-cDNA-deletion-insertion 1
Show top 20 journal where distinct words are counted variant-hgvs-cDNA-deletion-insertion : (journal, pattern, distinct words count)
BMC_Med_Genet variant-hgvs-cDNA-deletion-insertion 5
PLoS_One variant-hgvs-cDNA-deletion-insertion 5
Orphanet_J_Rare_Dis variant-hgvs-cDNA-deletion-insertion 3
Brain variant-hgvs-cDNA-deletion-insertion 2
Acta_Neuropathol_Commun variant-hgvs-cDNA-deletion-insertion 1
Br_J_Cancer variant-hgvs-cDNA-deletion-insertion 1
J_Hum_Genet variant-hgvs-cDNA-deletion-insertion 1
J_Exp_Med variant-hgvs-cDNA-deletion-insertion 1
Arq_Bras_Cardiol variant-hgvs-cDNA-deletion-insertion 1
Show top 20 words for variant-hgvs-cDNA-deletion-insertion : (word, pattern, count)
c.2826_2836delinsGGATGCTCCA variant-hgvs-cDNA-deletion-insertion 3
(c.2826_2836delinsGGATGCTCCA) variant-hgvs-cDNA-deletion-insertion 2
[c.690_714delinsA, variant-hgvs-cDNA-deletion-insertion 2
c.1910_1922delinsGTT variant-hgvs-cDNA-deletion-insertion 2
p.C3267R/c.6319_6324delinsTAAA variant-hgvs-cDNA-deletion-insertion 1
c.21796_21810delinsT; variant-hgvs-cDNA-deletion-insertion 1
c.300_301delinsT variant-hgvs-cDNA-deletion-insertion 1
c.1232_1234delinsTTTGAA variant-hgvs-cDNA-deletion-insertion 1
c.1103_1104delinsC variant-hgvs-cDNA-deletion-insertion 1
c.264-21_264-1delinsC) variant-hgvs-cDNA-deletion-insertion 1
c.1408_1410delinsTTT variant-hgvs-cDNA-deletion-insertion 1
c.2600_2604delinsA variant-hgvs-cDNA-deletion-insertion 1
c.2826_2836delinsGGATGCTCCA, variant-hgvs-cDNA-deletion-insertion 1
c.1983_1985delinsGG variant-hgvs-cDNA-deletion-insertion 1
c.7075_7077delinsT variant-hgvs-cDNA-deletion-insertion 1
c.3408_3409delinsGT variant-hgvs-cDNA-deletion-insertion 1
c.7665delinsGTGA;p.His2555Gln variant-hgvs-cDNA-deletion-insertion 1
c.2826_2836delinsGGATGCTCCA). variant-hgvs-cDNA-deletion-insertion 1
c.6319_6324delinsTAAA variant-hgvs-cDNA-deletion-insertion 1
(c.264-21_264-1delinsC) variant-hgvs-cDNA-deletion-insertion 1
Show sample for variant-hgvs-cDNA-deletion-insertion : (word, journal, publication, pattern, count, line, offset, length)
c.1910_1922delinsGTT J_Exp_Med ./J_Exp_Med/J_Exp_Med_2013_Aug_26_210(9)_1729-1742.txt variant-hgvs-cDNA-deletion-insertion 42 1 20
c.1910_1922delinsGTT J_Exp_Med ./J_Exp_Med/J_Exp_Med_2013_Aug_26_210(9)_1729-1742.txt variant-hgvs-cDNA-deletion-insertion 87 1 20
c.1232_1234delinsTTTGAA Arq_Bras_Cardiol ./Arq_Bras_Cardiol/Arq_Bras_Cardiol_2015_Nov_105(5)_536-539.txt variant-hgvs-cDNA-deletion-insertion 53 3 23
c.300_301delinsT PLoS_One ./PLoS_One/PLoS_One_2016_Jul_27_11(7)_e0160016.txt variant-hgvs-cDNA-deletion-insertion 115 16 16
c.1103_1104delinsC PLoS_One ./PLoS_One/PLoS_One_2016_Apr_15_11(4)_e0153841.txt variant-hgvs-cDNA-deletion-insertion 124 42 18
[c.690_714delinsA, PLoS_One ./PLoS_One/PLoS_One_2016_Mar_18_11(3)_e0151429.txt variant-hgvs-cDNA-deletion-insertion 62 3 18
[c.690_714delinsA, PLoS_One ./PLoS_One/PLoS_One_2016_Mar_18_11(3)_e0151429.txt variant-hgvs-cDNA-deletion-insertion 62 6 18
c.2600_2604delinsA PLoS_One ./PLoS_One/PLoS_One_2016_Oct_6_11(10)_e0163493.txt variant-hgvs-cDNA-deletion-insertion 110 9 18
c.1408_1410delinsTTT PLoS_One ./PLoS_One/PLoS_One_2016_Oct_6_11(10)_e0163493.txt variant-hgvs-cDNA-deletion-insertion 136 7 20
(c.264-21_264-1delinsC) Brain ./Brain/Brain_2014_May_18_137(5)_1350-1360.txt variant-hgvs-cDNA-deletion-insertion 148 119 23
c.264-21_264-1delinsC) Brain ./Brain/Brain_2014_May_18_137(5)_1350-1360.txt variant-hgvs-cDNA-deletion-insertion 217 174 22
c.3408_3409delinsGT J_Hum_Genet ./J_Hum_Genet/J_Hum_Genet_2016_Jun_25_61(6)_483-489.txt variant-hgvs-cDNA-deletion-insertion 85 2 19
c.21796_21810delinsT; Acta_Neuropathol_Commun ./Acta_Neuropathol_Commun/Acta_Neuropathol_Commun_2014_Apr_12_2_44.txt variant-hgvs-cDNA-deletion-insertion 51 43 21
c.7075_7077delinsT Orphanet_J_Rare_Dis ./Orphanet_J_Rare_Dis/Orphanet_J_Rare_Dis_2015_Oct_15_10_134.txt variant-hgvs-cDNA-deletion-insertion 89 4 18
c.6319_6324delinsTAAA Orphanet_J_Rare_Dis ./Orphanet_J_Rare_Dis/Orphanet_J_Rare_Dis_2011_Oct_17_6_65.txt variant-hgvs-cDNA-deletion-insertion 106 0 21
p.C3267R/c.6319_6324delinsTAAA Orphanet_J_Rare_Dis ./Orphanet_J_Rare_Dis/Orphanet_J_Rare_Dis_2011_Oct_17_6_65.txt variant-hgvs-cDNA-deletion-insertion 328 1 30
c.7665delinsGTGA;p.His2555Gln Br_J_Cancer ./Br_J_Cancer/Br_J_Cancer_2012_Jan_17_106(2)_262-268.txt variant-hgvs-cDNA-deletion-insertion 112 99 29
(c.2826_2836delinsGGATGCTCCA) BMC_Med_Genet ./BMC_Med_Genet/BMC_Med_Genet_2012_Aug_2_13_65.txt variant-hgvs-cDNA-deletion-insertion 7 15 29
c.2826_2836delinsGGATGCTCCA, BMC_Med_Genet ./BMC_Med_Genet/BMC_Med_Genet_2012_Aug_2_13_65.txt variant-hgvs-cDNA-deletion-insertion 10 21 28
(c.2826_2836delinsGGATGCTCCA) BMC_Med_Genet ./BMC_Med_Genet/BMC_Med_Genet_2012_Aug_2_13_65.txt variant-hgvs-cDNA-deletion-insertion 20 45 29
* * * * * * * * * * * * * *
Found 209 matches for variant-hgvs-cDNA-duplication patterns :(c)\.((?:-|\*)?\d+)((?:\+|\-)\d+)?(?:_((?:-|\*)?\d+)((?:\+|\-)\d+)?)?dup
Show top 20 journals for variant-hgvs-cDNA-duplication : (journal, pattern, count)
Hered_Cancer_Clin_Pract variant-hgvs-cDNA-duplication 37
Mol_Vis variant-hgvs-cDNA-duplication 24
Orphanet_J_Rare_Dis variant-hgvs-cDNA-duplication 17
Int_J_Mol_Med variant-hgvs-cDNA-duplication 15
BMC_Med_Genet variant-hgvs-cDNA-duplication 15
J_Med_Genet variant-hgvs-cDNA-duplication 11
BMC_Genet variant-hgvs-cDNA-duplication 9
J_Hum_Genet variant-hgvs-cDNA-duplication 8
Mol_Genet_Genomic_Med variant-hgvs-cDNA-duplication 8
Eur_Arch_Otorhinolaryngol variant-hgvs-cDNA-duplication 7
PLoS_One variant-hgvs-cDNA-duplication 7
Eur_J_Hum_Genet variant-hgvs-cDNA-duplication 5
Ann_Lab_Med variant-hgvs-cDNA-duplication 5
BMC_Gastroenterol variant-hgvs-cDNA-duplication 3
Brain variant-hgvs-cDNA-duplication 3
Blood_Cancer_J variant-hgvs-cDNA-duplication 3
Hum_Genome_Var variant-hgvs-cDNA-duplication 3
Mol_Cells variant-hgvs-cDNA-duplication 3
Cell_Rep variant-hgvs-cDNA-duplication 2
Zdr_Varst variant-hgvs-cDNA-duplication 2
Show top 20 journal where distinct words are counted variant-hgvs-cDNA-duplication : (journal, pattern, distinct words count)
Mol_Vis variant-hgvs-cDNA-duplication 14
Orphanet_J_Rare_Dis variant-hgvs-cDNA-duplication 14
Hered_Cancer_Clin_Pract variant-hgvs-cDNA-duplication 11
J_Med_Genet variant-hgvs-cDNA-duplication 8
J_Hum_Genet variant-hgvs-cDNA-duplication 8
Mol_Genet_Genomic_Med variant-hgvs-cDNA-duplication 7
PLoS_One variant-hgvs-cDNA-duplication 7
BMC_Genet variant-hgvs-cDNA-duplication 5
Eur_J_Hum_Genet variant-hgvs-cDNA-duplication 5
Brain variant-hgvs-cDNA-duplication 3
Mol_Cells variant-hgvs-cDNA-duplication 3
BMC_Med_Genet variant-hgvs-cDNA-duplication 3
Hum_Genome_Var variant-hgvs-cDNA-duplication 3
Med_Anthropol variant-hgvs-cDNA-duplication 2
BMC_Gastroenterol variant-hgvs-cDNA-duplication 2
Zdr_Varst variant-hgvs-cDNA-duplication 2
Blood_Cancer_J variant-hgvs-cDNA-duplication 2
Eur_Arch_Otorhinolaryngol variant-hgvs-cDNA-duplication 2
Blood variant-hgvs-cDNA-duplication 2
Neurol_Genet variant-hgvs-cDNA-duplication 2
Show top 20 words for variant-hgvs-cDNA-duplication : (word, pattern, count)
BRCA1c.5266dup variant-hgvs-cDNA-duplication 16
c.1445dupT variant-hgvs-cDNA-duplication 15
c.2330dupG variant-hgvs-cDNA-duplication 11
c.5266dup variant-hgvs-cDNA-duplication 11
c.672_701dup30 variant-hgvs-cDNA-duplication 9
c.579dupA variant-hgvs-cDNA-duplication 6
(c.1893dup; variant-hgvs-cDNA-duplication 5
c.1378-1405dup variant-hgvs-cDNA-duplication 3
c.93_96dupAAAA variant-hgvs-cDNA-duplication 3
c.2330dupG/0 variant-hgvs-cDNA-duplication 3
c.5266dupC variant-hgvs-cDNA-duplication 3
c.35dupG variant-hgvs-cDNA-duplication 3
(BRCA1c.5266dup variant-hgvs-cDNA-duplication 2
c.1638-1660dup variant-hgvs-cDNA-duplication 2
c.2192dupA variant-hgvs-cDNA-duplication 2
(c.5266dupC), variant-hgvs-cDNA-duplication 2
c.4994dupA variant-hgvs-cDNA-duplication 2
c.5266dupin variant-hgvs-cDNA-duplication 2
c.1176_1177dupAT variant-hgvs-cDNA-duplication 2
c.106dupC variant-hgvs-cDNA-duplication 2
Show sample for variant-hgvs-cDNA-duplication : (word, journal, publication, pattern, count, line, offset, length)
c.2373dupG Cell_Rep ./Cell_Rep/Cell_Rep_2015_Oct_17_13(4)_733-745.txt variant-hgvs-cDNA-duplication 58 73 10
c.2373dupG Cell_Rep ./Cell_Rep/Cell_Rep_2015_Oct_17_13(4)_733-745.txt variant-hgvs-cDNA-duplication 77 46 10
(c.632dupG) ACG_Case_Rep_J ./ACG_Case_Rep_J/ACG_Case_Rep_J_2014_Jan_10_1(2)_90-92.txt variant-hgvs-cDNA-duplication 15 117 11
c.876dupT J_Exp_Med ./J_Exp_Med/J_Exp_Med_2013_Aug_26_210(9)_1729-1742.txt variant-hgvs-cDNA-duplication 67 0 9
c.2375_2376dupTT J_Exp_Med ./J_Exp_Med/J_Exp_Med_2013_Aug_26_210(9)_1729-1742.txt variant-hgvs-cDNA-duplication 97 1 16
(c.5266dupC), J_Appl_Genet ./J_Appl_Genet/J_Appl_Genet_2011_Aug_19_52(3)_325-330.txt variant-hgvs-cDNA-duplication 3 199 13
(c.5266dupC), J_Appl_Genet ./J_Appl_Genet/J_Appl_Genet_2011_Aug_19_52(3)_325-330.txt variant-hgvs-cDNA-duplication 16 6 13
c.1378-1405dup J_Med_Genet ./J_Med_Genet/J_Med_Genet_2008_Jun_30_45(6)_321-331.txt variant-hgvs-cDNA-duplication 68 2 14
c.1378-1405dup J_Med_Genet ./J_Med_Genet/J_Med_Genet_2008_Jun_30_45(6)_321-331.txt variant-hgvs-cDNA-duplication 69 2 14
c.1378-1405dup J_Med_Genet ./J_Med_Genet/J_Med_Genet_2008_Jun_30_45(6)_321-331.txt variant-hgvs-cDNA-duplication 70 2 14
(c.1378-1405dup). J_Med_Genet ./J_Med_Genet/J_Med_Genet_2008_Jun_30_45(6)_321-331.txt variant-hgvs-cDNA-duplication 110 124 17
c.1110dupG J_Med_Genet ./J_Med_Genet/J_Med_Genet_2008_Jun_30_45(6)_321-331.txt variant-hgvs-cDNA-duplication 159 5 10
c.2373_2374dup, J_Med_Genet ./J_Med_Genet/J_Med_Genet_2013_Sep_19_50(9)_614-626.txt variant-hgvs-cDNA-duplication 103 72 15
c.676_701dup26, J_Med_Genet ./J_Med_Genet/J_Med_Genet_2013_Sep_19_50(9)_614-626.txt variant-hgvs-cDNA-duplication 103 74 15
c.2373dup) J_Med_Genet ./J_Med_Genet/J_Med_Genet_2013_Sep_19_50(9)_614-626.txt variant-hgvs-cDNA-duplication 103 216 10
c.353+46dup) J_Med_Genet ./J_Med_Genet/J_Med_Genet_2013_Sep_19_50(9)_614-626.txt variant-hgvs-cDNA-duplication 153 60 12
c.353+46dup) J_Med_Genet ./J_Med_Genet/J_Med_Genet_2013_Sep_19_50(9)_614-626.txt variant-hgvs-cDNA-duplication 153 141 12
c.2373dup J_Med_Genet ./J_Med_Genet/J_Med_Genet_2013_Sep_19_50(9)_614-626.txt variant-hgvs-cDNA-duplication 167 30 9
(c.1934dupG;p.Gly646TrpfsX12) Blood_Cancer_J ./Blood_Cancer_J/Blood_Cancer_J_2011_Mar_4_1(3)_e7.txt variant-hgvs-cDNA-duplication 29 16 29
c.1934dupG;p.Gly646TrpfsX12 Blood_Cancer_J ./Blood_Cancer_J/Blood_Cancer_J_2011_Mar_4_1(3)_e7.txt variant-hgvs-cDNA-duplication 29 140 27
* * * * * * * * * * * * * *
Found 88 matches for variant-hgvs-cDNA-insertion patterns :(c)\.((?:-|\*)?\d+)((?:\+|\-)\d+)?_((?:-|\*)?\d+)((?:\+|\-)\d+)?ins[A-Z]+
Show top 20 journals for variant-hgvs-cDNA-insertion : (journal, pattern, count)
Mol_Vis variant-hgvs-cDNA-insertion 22
Orphanet_J_Rare_Dis variant-hgvs-cDNA-insertion 7
Hum_Genome_Var variant-hgvs-cDNA-insertion 6
BMC_Genet variant-hgvs-cDNA-insertion 5
PLoS_One variant-hgvs-cDNA-insertion 5
Sci_Rep variant-hgvs-cDNA-insertion 4
Curr_Genomics variant-hgvs-cDNA-insertion 4
Genet_Med variant-hgvs-cDNA-insertion 4
Cerebellum_Ataxias variant-hgvs-cDNA-insertion 3
Eur_J_Hum_Genet variant-hgvs-cDNA-insertion 3
Fam_Cancer variant-hgvs-cDNA-insertion 3
Diagn_Pathol variant-hgvs-cDNA-insertion 2
Blood variant-hgvs-cDNA-insertion 2
Nat_Genet variant-hgvs-cDNA-insertion 2
J_Korean_Med_Sci variant-hgvs-cDNA-insertion 2
Genet_Mol_Biol variant-hgvs-cDNA-insertion 2
Br_J_Ophthalmol variant-hgvs-cDNA-insertion 2
Breast_Cancer_Res variant-hgvs-cDNA-insertion 1
BMC_Neurol variant-hgvs-cDNA-insertion 1
Mol_Genet_Genomic_Med variant-hgvs-cDNA-insertion 1
Show top 20 journal where distinct words are counted variant-hgvs-cDNA-insertion : (journal, pattern, distinct words count)
Mol_Vis variant-hgvs-cDNA-insertion 8
Orphanet_J_Rare_Dis variant-hgvs-cDNA-insertion 7
PLoS_One variant-hgvs-cDNA-insertion 5
Sci_Rep variant-hgvs-cDNA-insertion 4
Curr_Genomics variant-hgvs-cDNA-insertion 4
Fam_Cancer variant-hgvs-cDNA-insertion 3
BMC_Genet variant-hgvs-cDNA-insertion 3
Eur_J_Hum_Genet variant-hgvs-cDNA-insertion 3
Diagn_Pathol variant-hgvs-cDNA-insertion 2
Nat_Genet variant-hgvs-cDNA-insertion 2
Blood variant-hgvs-cDNA-insertion 2
Genet_Med variant-hgvs-cDNA-insertion 2
Br_J_Ophthalmol variant-hgvs-cDNA-insertion 2
Genet_Mol_Biol variant-hgvs-cDNA-insertion 2
Cerebellum_Ataxias variant-hgvs-cDNA-insertion 2
Hum_Genome_Var variant-hgvs-cDNA-insertion 2
J_Hum_Genet variant-hgvs-cDNA-insertion 1
Cancer_Res_Treat variant-hgvs-cDNA-insertion 1
Mol_Genet_Genomic_Med variant-hgvs-cDNA-insertion 1
Breast_Cancer_Res variant-hgvs-cDNA-insertion 1
Show top 20 words for variant-hgvs-cDNA-insertion : (word, pattern, count)
c.1495+2_1495+3insT variant-hgvs-cDNA-insertion 12
c.109_110insG variant-hgvs-cDNA-insertion 4
c.2052_2053insA variant-hgvs-cDNA-insertion 4
c.1495+2_1495+3insT, variant-hgvs-cDNA-insertion 4
c.6686_6687insCAAC variant-hgvs-cDNA-insertion 2
c.466_467insAC, variant-hgvs-cDNA-insertion 2
c.517_518insT variant-hgvs-cDNA-insertion 2
c.517_518insT; variant-hgvs-cDNA-insertion 2
c.551_552insG variant-hgvs-cDNA-insertion 2
[c.2458_2459insG variant-hgvs-cDNA-insertion 1
(c.1029_1030insT variant-hgvs-cDNA-insertion 1
c.852_853insTCCC variant-hgvs-cDNA-insertion 1
c.220_221insGT, variant-hgvs-cDNA-insertion 1
c.949_950insC variant-hgvs-cDNA-insertion 1
(c.156_157insAlu) variant-hgvs-cDNA-insertion 1
c.1580_1581insCAGAAGGACCTGGGGGATG variant-hgvs-cDNA-insertion 1
(c.1757_1758insC) variant-hgvs-cDNA-insertion 1
c.6686_6687insCAAC; variant-hgvs-cDNA-insertion 1
(c.1495+2_1495+3insT; variant-hgvs-cDNA-insertion 1
c.4941_4942insT) variant-hgvs-cDNA-insertion 1
Show sample for variant-hgvs-cDNA-insertion : (word, journal, publication, pattern, count, line, offset, length)
c.517_518insT Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-insertion 50 139 13
c.517_518insT; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-insertion 123 4 14
c.517_518insT; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-insertion 130 5 14
c.517_518insT Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-insertion 136 3 13
c.1291_1292insT Fam_Cancer ./Fam_Cancer/Fam_Cancer_2010_Jun_1_9(2)_193-201.txt variant-hgvs-cDNA-insertion 61 1 15
c.6396_6397insA Fam_Cancer ./Fam_Cancer/Fam_Cancer_2010_Jun_1_9(2)_193-201.txt variant-hgvs-cDNA-insertion 63 4 15
c.2989_2990insAA Fam_Cancer ./Fam_Cancer/Fam_Cancer_2010_Jun_1_9(2)_193-201.txt variant-hgvs-cDNA-insertion 64 1 16
c.1029_1030insT(8) Br_J_Ophthalmol ./Br_J_Ophthalmol/Br_J_Ophthalmol_2009_May_21_93(5)_614-621.txt variant-hgvs-cDNA-insertion 76 8 18
(c.1029_1030insT Br_J_Ophthalmol ./Br_J_Ophthalmol/Br_J_Ophthalmol_2009_May_21_93(5)_614-621.txt variant-hgvs-cDNA-insertion 130 38 16
(c.1757_1758insC) Cancer_Res_Treat ./Cancer_Res_Treat/Cancer_Res_Treat_2016_Apr_5_48(2)_668-675.txt variant-hgvs-cDNA-insertion 63 149 17
(c.3936_3937insC) BMC_Neurol ./BMC_Neurol/BMC_Neurol_2011_Oct_1_11_119.txt variant-hgvs-cDNA-insertion 37 65 17
c.8821_8822insTG Mol_Cells ./Mol_Cells/Mol_Cells_2015_Sep_30_38(9)_781-788.txt variant-hgvs-cDNA-insertion 136 0 16
c.1806_1807insAT Mol_Genet_Genomic_Med ./Mol_Genet_Genomic_Med/Mol_Genet_Genomic_Med_2014_Mar_14_2(2)_176-185.txt variant-hgvs-cDNA-insertion 60 1 16
c.109_110insG Hum_Genome_Var ./Hum_Genome_Var/Hum_Genome_Var_2016_Feb_11_3_15052.txt variant-hgvs-cDNA-insertion 26 110 13
c.551_552insG Hum_Genome_Var ./Hum_Genome_Var/Hum_Genome_Var_2016_Feb_11_3_15052.txt variant-hgvs-cDNA-insertion 26 114 13
c.109_110insG Hum_Genome_Var ./Hum_Genome_Var/Hum_Genome_Var_2016_Feb_11_3_15052.txt variant-hgvs-cDNA-insertion 55 4 13
c.109_110insG Hum_Genome_Var ./Hum_Genome_Var/Hum_Genome_Var_2016_Feb_11_3_15052.txt variant-hgvs-cDNA-insertion 56 4 13
c.109_110insG Hum_Genome_Var ./Hum_Genome_Var/Hum_Genome_Var_2016_Feb_11_3_15052.txt variant-hgvs-cDNA-insertion 57 4 13
c.551_552insG Hum_Genome_Var ./Hum_Genome_Var/Hum_Genome_Var_2016_Feb_11_3_15052.txt variant-hgvs-cDNA-insertion 64 4 13
c.1579_1580insCTC PLoS_One ./PLoS_One/PLoS_One_2016_May_16_11(5)_e0155421.txt variant-hgvs-cDNA-insertion 83 3 17
* * * * * * * * * * * * * *
Found 0 matches for variant-hgvs-cDNA-inversion patterns :(c)\.((?:\-|\*)?\d+)((?:\+|\-)\d+)?_((?:\-|\*)?\d+)((?:\+|\-)\d+)?inv
* * * * * * * * * * * * * *
Found 1 matches for variant-hgvs-cDNA-repeatedsequences patterns :(c)\.((?:\-|\*)?\d+)((?:\+|\-)\d+)?(?:_((?:\-|\*)?\d+)((?:\+|\-)\d+)?)?\[(\d+)\]
Show top 20 journals for variant-hgvs-cDNA-repeatedsequences : (journal, pattern, count)
Eur_J_Hum_Genet variant-hgvs-cDNA-repeatedsequences 1
Show top 20 journal where distinct words are counted variant-hgvs-cDNA-repeatedsequences : (journal, pattern, distinct words count)
Eur_J_Hum_Genet variant-hgvs-cDNA-repeatedsequences 1
Show top 20 words for variant-hgvs-cDNA-repeatedsequences : (word, pattern, count)
c.1210-12[7] variant-hgvs-cDNA-repeatedsequences 1
Show sample for variant-hgvs-cDNA-repeatedsequences : (word, journal, publication, pattern, count, line, offset, length)
c.1210-12[7] Eur_J_Hum_Genet ./Eur_J_Hum_Genet/Eur_J_Hum_Genet_2016_Apr_27_24(4)_469-478.txt variant-hgvs-cDNA-repeatedsequences 326 1 12
* * * * * * * * * * * * * *
Found 3160 matches for variant-hgvs-cDNA-substitution patterns :(c)\.((?:-|\*)?\d+)((?:\+|\-)\d+)?([A-Z])>([A-Z])
Show top 20 journals for variant-hgvs-cDNA-substitution : (journal, pattern, count)
PLoS_One variant-hgvs-cDNA-substitution 570
Mol_Vis variant-hgvs-cDNA-substitution 344
Eur_J_Hum_Genet variant-hgvs-cDNA-substitution 171
Hum_Mutat variant-hgvs-cDNA-substitution 158
Orphanet_J_Rare_Dis variant-hgvs-cDNA-substitution 152
BMC_Med_Genet variant-hgvs-cDNA-substitution 105
Curr_Genomics variant-hgvs-cDNA-substitution 99
Hum_Genome_Var variant-hgvs-cDNA-substitution 86
Mol_Genet_Genomic_Med variant-hgvs-cDNA-substitution 84
Sci_Rep variant-hgvs-cDNA-substitution 81
Br_J_Cancer variant-hgvs-cDNA-substitution 65
J_Clin_Oncol variant-hgvs-cDNA-substitution 62
Asian-Australas_J_Anim_Sci variant-hgvs-cDNA-substitution 60
Mol_Cells variant-hgvs-cDNA-substitution 60
J_Med_Genet variant-hgvs-cDNA-substitution 57
J_Exp_Med variant-hgvs-cDNA-substitution 55
Nat_Commun variant-hgvs-cDNA-substitution 54
PLoS_Genet variant-hgvs-cDNA-substitution 41
Genet_Med variant-hgvs-cDNA-substitution 40
Br_J_Ophthalmol variant-hgvs-cDNA-substitution 36
Show top 20 journal where distinct words are counted variant-hgvs-cDNA-substitution : (journal, pattern, distinct words count)
PLoS_One variant-hgvs-cDNA-substitution 296
Mol_Vis variant-hgvs-cDNA-substitution 217
Eur_J_Hum_Genet variant-hgvs-cDNA-substitution 123
Orphanet_J_Rare_Dis variant-hgvs-cDNA-substitution 110
Curr_Genomics variant-hgvs-cDNA-substitution 99
Mol_Genet_Genomic_Med variant-hgvs-cDNA-substitution 63
Sci_Rep variant-hgvs-cDNA-substitution 56
Hum_Genome_Var variant-hgvs-cDNA-substitution 55
J_Med_Genet variant-hgvs-cDNA-substitution 52
Hum_Mutat variant-hgvs-cDNA-substitution 52
J_Exp_Med variant-hgvs-cDNA-substitution 50
Nat_Commun variant-hgvs-cDNA-substitution 48
J_Clin_Oncol variant-hgvs-cDNA-substitution 40
Mol_Cells variant-hgvs-cDNA-substitution 39
BMC_Med_Genet variant-hgvs-cDNA-substitution 39
Genet_Med variant-hgvs-cDNA-substitution 35
Br_J_Ophthalmol variant-hgvs-cDNA-substitution 29
J_Hum_Genet variant-hgvs-cDNA-substitution 20
Fam_Cancer variant-hgvs-cDNA-substitution 20
Br_J_Cancer variant-hgvs-cDNA-substitution 18
Show top 20 words for variant-hgvs-cDNA-substitution : (word, pattern, count)
c.5254G>A variant-hgvs-cDNA-substitution 49
c.-7C>T variant-hgvs-cDNA-substitution 43
c.-28A>G variant-hgvs-cDNA-substitution 32
c.1111C>G variant-hgvs-cDNA-substitution 29
c.1A>G variant-hgvs-cDNA-substitution 24
c.98C>T variant-hgvs-cDNA-substitution 20
c.2278C>T variant-hgvs-cDNA-substitution 19
c.2168A>G variant-hgvs-cDNA-substitution 19
c.615+5G>A variant-hgvs-cDNA-substitution 17
c.1091-2A>G variant-hgvs-cDNA-substitution 15
c.-22T>C variant-hgvs-cDNA-substitution 15
c.946G>A variant-hgvs-cDNA-substitution 15
c.985A>G variant-hgvs-cDNA-substitution 13
c.2T>C variant-hgvs-cDNA-substitution 12
c.448G>A variant-hgvs-cDNA-substitution 11
c.357-2A>G variant-hgvs-cDNA-substitution 11
c.280A>G variant-hgvs-cDNA-substitution 11
c.8672G>A variant-hgvs-cDNA-substitution 10
c.471G>A variant-hgvs-cDNA-substitution 10
c.1064G>A variant-hgvs-cDNA-substitution 10
Show sample for variant-hgvs-cDNA-substitution : (word, journal, publication, pattern, count, line, offset, length)
c.446T>G, Pediatr_Rheumatol_Online_J ./Pediatr_Rheumatol_Online_J/Pediatr_Rheumatol_Online_J_2015_Sep_28_13(Suppl_1)_P57.txt variant-hgvs-cDNA-substitution 15 39 9
c.3G>A Nat_Med ./Nat_Med/Nat_Med_2014_Jul_22_20(7)_748-753.txt variant-hgvs-cDNA-substitution 33 171 6
c.185G>A Nat_Med ./Nat_Med/Nat_Med_2014_Jul_22_20(7)_748-753.txt variant-hgvs-cDNA-substitution 33 174 8
c.1155A>C Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 50 95 9
c.974T>G Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 50 109 8
c.295G>C Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 50 227 8
c.1065A>T Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 50 245 9
c.1015G>A Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 50 268 9
c.1315G>A Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 88 5 9
c.1750C>T*; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 89 4 11
c.1894C>T Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 90 0 9
c.1731+4A>G Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 92 3 11
c.1155A>C*; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 93 4 11
c.974T>G* Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 94 0 9
c.841C>T; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 96 4 9
c.834A>G Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 99 0 8
c.539G>T; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 102 4 9
c.872C>T; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 105 4 9
c.866C>T; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 107 5 9
c.974T>G* Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-cDNA-substitution 107 6 9
* * * * * * * * * * * * * *
Found 29 matches for variant-hgvs-gDNA-deletion patterns :(g)\.(\d+)(?:_(\d+))?del
Show top 20 journals for variant-hgvs-gDNA-deletion : (journal, pattern, count)
Mol_Vis variant-hgvs-gDNA-deletion 11
PLoS_One variant-hgvs-gDNA-deletion 7
Fam_Cancer variant-hgvs-gDNA-deletion 2
Front_Genet variant-hgvs-gDNA-deletion 2
Nat_Immunol variant-hgvs-gDNA-deletion 2
BMC_Cancer variant-hgvs-gDNA-deletion 2
BMC_Med_Genet variant-hgvs-gDNA-deletion 1
Turk_J_Haematol variant-hgvs-gDNA-deletion 1
Eur_J_Hum_Genet variant-hgvs-gDNA-deletion 1
Show top 20 journal where distinct words are counted variant-hgvs-gDNA-deletion : (journal, pattern, distinct words count)
Mol_Vis variant-hgvs-gDNA-deletion 7
PLoS_One variant-hgvs-gDNA-deletion 4
Fam_Cancer variant-hgvs-gDNA-deletion 2
Front_Genet variant-hgvs-gDNA-deletion 2
BMC_Cancer variant-hgvs-gDNA-deletion 2
BMC_Med_Genet variant-hgvs-gDNA-deletion 1
Nat_Immunol variant-hgvs-gDNA-deletion 1
Eur_J_Hum_Genet variant-hgvs-gDNA-deletion 1
Turk_J_Haematol variant-hgvs-gDNA-deletion 1
Show top 20 words for variant-hgvs-gDNA-deletion : (word, pattern, count)
g.30586227delC* variant-hgvs-gDNA-deletion 4
(g.363924_416577del52654insA) variant-hgvs-gDNA-deletion 3
(g.302534_398773del96240) variant-hgvs-gDNA-deletion 2
TRIB3:g.-1272_HOIL1:g.9780del) variant-hgvs-gDNA-deletion 2
g.162078delA* variant-hgvs-gDNA-deletion 2
g.43728907_43732862del3955ins26). variant-hgvs-gDNA-deletion 1
g.162078delA. variant-hgvs-gDNA-deletion 1
g.156743delTCTG, variant-hgvs-gDNA-deletion 1
g.162266delC variant-hgvs-gDNA-deletion 1
g.156743delTCTG variant-hgvs-gDNA-deletion 1
g.7578222_7578225del variant-hgvs-gDNA-deletion 1
(chr7:g.110876742_111470446del, variant-hgvs-gDNA-deletion 1
g.64407delT variant-hgvs-gDNA-deletion 1
(g.2525_7247del4723) variant-hgvs-gDNA-deletion 1
g.7578222_7578225del, variant-hgvs-gDNA-deletion 1
g.64407delT, variant-hgvs-gDNA-deletion 1
g.8280_9560del variant-hgvs-gDNA-deletion 1
(g.302534_398773del96240), variant-hgvs-gDNA-deletion 1
g.45855delT variant-hgvs-gDNA-deletion 1
NC_000001.10:g.110280254delCinsCCT variant-hgvs-gDNA-deletion 1
Show sample for variant-hgvs-gDNA-deletion : (word, journal, publication, pattern, count, line, offset, length)
g.45855delT Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-deletion 81 9 11
g.162266delC Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-deletion 110 5 12
g.7578222_7578225del, BMC_Cancer ./BMC_Cancer/BMC_Cancer_2016_Apr_11_16_268.txt variant-hgvs-gDNA-deletion 99 73 21
g.7578222_7578225del BMC_Cancer ./BMC_Cancer/BMC_Cancer_2016_Apr_11_16_268.txt variant-hgvs-gDNA-deletion 116 0 20
g.8280_9560del Turk_J_Haematol ./Turk_J_Haematol/Turk_J_Haematol_2014_Sep_5_31(3)_335-336.txt variant-hgvs-gDNA-deletion 15 19 14
(g.302534_398773del96240), PLoS_One ./PLoS_One/PLoS_One_2012_Dec_14_7(12)_e52052.txt variant-hgvs-gDNA-deletion 7 161 26
(g.363924_416577del52654insA) PLoS_One ./PLoS_One/PLoS_One_2012_Dec_14_7(12)_e52052.txt variant-hgvs-gDNA-deletion 7 194 29
(g.2525_7247del4723) PLoS_One ./PLoS_One/PLoS_One_2012_Dec_14_7(12)_e52052.txt variant-hgvs-gDNA-deletion 18 64 20
(g.302534_398773del96240) PLoS_One ./PLoS_One/PLoS_One_2012_Dec_14_7(12)_e52052.txt variant-hgvs-gDNA-deletion 48 56 25
(g.363924_416577del52654insA) PLoS_One ./PLoS_One/PLoS_One_2012_Dec_14_7(12)_e52052.txt variant-hgvs-gDNA-deletion 61 51 29
(g.302534_398773del96240) PLoS_One ./PLoS_One/PLoS_One_2012_Dec_14_7(12)_e52052.txt variant-hgvs-gDNA-deletion 73 110 25
(g.363924_416577del52654insA) PLoS_One ./PLoS_One/PLoS_One_2012_Dec_14_7(12)_e52052.txt variant-hgvs-gDNA-deletion 73 133 29
g.30586227delC* Mol_Vis ./Mol_Vis/Mol_Vis_2009_Oct_17_15_2074-2083.txt variant-hgvs-gDNA-deletion 43 2 15
g.30586227delC* Mol_Vis ./Mol_Vis/Mol_Vis_2009_Oct_17_15_2074-2083.txt variant-hgvs-gDNA-deletion 44 2 15
g.30586227delC* Mol_Vis ./Mol_Vis/Mol_Vis_2009_Oct_17_15_2074-2083.txt variant-hgvs-gDNA-deletion 45 2 15
g.30586227delC* Mol_Vis ./Mol_Vis/Mol_Vis_2009_Oct_17_15_2074-2083.txt variant-hgvs-gDNA-deletion 46 2 15
g.64407delT, Mol_Vis ./Mol_Vis/Mol_Vis_2009_Apr_17_15_771-777.txt variant-hgvs-gDNA-deletion 15 43 12
g.156743delTCTG, Mol_Vis ./Mol_Vis/Mol_Vis_2009_Apr_17_15_771-777.txt variant-hgvs-gDNA-deletion 15 45 16
g.162078delA. Mol_Vis ./Mol_Vis/Mol_Vis_2009_Apr_17_15_771-777.txt variant-hgvs-gDNA-deletion 15 47 13
g.64407delT Mol_Vis ./Mol_Vis/Mol_Vis_2009_Apr_17_15_771-777.txt variant-hgvs-gDNA-deletion 98 10 11
* * * * * * * * * * * * * *
Found 0 matches for variant-hgvs-gDNA-deletion-insertion patterns :(g)\.(\d+)(?:_(\d+))?delins[A-Z]+
* * * * * * * * * * * * * *
Found 6 matches for variant-hgvs-gDNA-duplication patterns :(g)\.(\d+)(?:_(\d+))?dup
Show top 20 journals for variant-hgvs-gDNA-duplication : (journal, pattern, count)
Fam_Cancer variant-hgvs-gDNA-duplication 5
Mol_Vis variant-hgvs-gDNA-duplication 1
Show top 20 journal where distinct words are counted variant-hgvs-gDNA-duplication : (journal, pattern, distinct words count)
Fam_Cancer variant-hgvs-gDNA-duplication 3
Mol_Vis variant-hgvs-gDNA-duplication 1
Show top 20 words for variant-hgvs-gDNA-duplication : (word, pattern, count)
g.59702_59703dup variant-hgvs-gDNA-duplication 3
g.2179_2183dupGGACC variant-hgvs-gDNA-duplication 1
g.2121dupC variant-hgvs-gDNA-duplication 1
g.5505_5506dup variant-hgvs-gDNA-duplication 1
Show sample for variant-hgvs-gDNA-duplication : (word, journal, publication, pattern, count, line, offset, length)
g.2121dupC Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-duplication 78 5 10
g.5505_5506dup Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-duplication 80 6 14
g.59702_59703dup Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-duplication 83 7 16
g.59702_59703dup Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-duplication 84 3 16
g.59702_59703dup Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-duplication 85 3 16
g.2179_2183dupGGACC Mol_Vis ./Mol_Vis/Mol_Vis_2009_Apr_17_15_771-777.txt variant-hgvs-gDNA-duplication 94 9 19
* * * * * * * * * * * * * *
Found 0 matches for variant-hgvs-gDNA-insertion patterns :(g)\.(\d+)_(\d+)ins[A-Z]+
* * * * * * * * * * * * * *
Found 0 matches for variant-hgvs-gDNA-inversion patterns :(g)\.(\d+)_(\d+)inv
* * * * * * * * * * * * * *
Found 331 matches for variant-hgvs-gDNA-substitution patterns :(g)\.(\d+)([A-Z])>([A-Z])
Show top 20 journals for variant-hgvs-gDNA-substitution : (journal, pattern, count)
Int_J_Mol_Sci variant-hgvs-gDNA-substitution 53
Front_Genet variant-hgvs-gDNA-substitution 45
Fam_Cancer variant-hgvs-gDNA-substitution 40
Genes_Brain_Behav variant-hgvs-gDNA-substitution 40
PLoS_Genet variant-hgvs-gDNA-substitution 21
Orphanet_J_Rare_Dis variant-hgvs-gDNA-substitution 17
J_Korean_Surg_Soc variant-hgvs-gDNA-substitution 17
Eur_J_Hum_Genet variant-hgvs-gDNA-substitution 17
Mol_Vis variant-hgvs-gDNA-substitution 15
Mol_Biol_Rep variant-hgvs-gDNA-substitution 14
Int_J_Biol_Sci variant-hgvs-gDNA-substitution 10
PLoS_One variant-hgvs-gDNA-substitution 7
Pharmgenomics_Pers_Med variant-hgvs-gDNA-substitution 7
J_Vet_Intern_Med variant-hgvs-gDNA-substitution 6
Int_J_Cardiol variant-hgvs-gDNA-substitution 5
Biomed_Res_Int variant-hgvs-gDNA-substitution 3
Br_J_Cancer variant-hgvs-gDNA-substitution 3
Clin_Med_Insights_Cardiol variant-hgvs-gDNA-substitution 2
Pharmacogenomics_J variant-hgvs-gDNA-substitution 2
Transpl_Int variant-hgvs-gDNA-substitution 1
Show top 20 journal where distinct words are counted variant-hgvs-gDNA-substitution : (journal, pattern, distinct words count)
Front_Genet variant-hgvs-gDNA-substitution 45
Int_J_Mol_Sci variant-hgvs-gDNA-substitution 37
PLoS_Genet variant-hgvs-gDNA-substitution 21
Fam_Cancer variant-hgvs-gDNA-substitution 20
Eur_J_Hum_Genet variant-hgvs-gDNA-substitution 17
Genes_Brain_Behav variant-hgvs-gDNA-substitution 17
Orphanet_J_Rare_Dis variant-hgvs-gDNA-substitution 14
Mol_Vis variant-hgvs-gDNA-substitution 9
Int_J_Biol_Sci variant-hgvs-gDNA-substitution 9
Mol_Biol_Rep variant-hgvs-gDNA-substitution 8
PLoS_One variant-hgvs-gDNA-substitution 7
J_Vet_Intern_Med variant-hgvs-gDNA-substitution 6
Pharmgenomics_Pers_Med variant-hgvs-gDNA-substitution 3
Int_J_Cardiol variant-hgvs-gDNA-substitution 3
Br_J_Cancer variant-hgvs-gDNA-substitution 3
Biomed_Res_Int variant-hgvs-gDNA-substitution 2
Clin_Med_Insights_Cardiol variant-hgvs-gDNA-substitution 2
Pharmacogenomics_J variant-hgvs-gDNA-substitution 2
Case_Rep_Transplant variant-hgvs-gDNA-substitution 1
BMC_Med_Genomics variant-hgvs-gDNA-substitution 1
Show top 20 words for variant-hgvs-gDNA-substitution : (word, pattern, count)
g.72C>T variant-hgvs-gDNA-substitution 17
g.76430C>T variant-hgvs-gDNA-substitution 7
g.65386C>T variant-hgvs-gDNA-substitution 5
g.8213T>C variant-hgvs-gDNA-substitution 5
g.162237C>T variant-hgvs-gDNA-substitution 5
g.72A>C variant-hgvs-gDNA-substitution 5
g.18492T>C variant-hgvs-gDNA-substitution 4
g.150037C>T variant-hgvs-gDNA-substitution 4
g.21762C>A variant-hgvs-gDNA-substitution 4
g.20765C>A variant-hgvs-gDNA-substitution 4
g.14718C>T variant-hgvs-gDNA-substitution 4
g.11559C>T variant-hgvs-gDNA-substitution 4
g.21796G>A variant-hgvs-gDNA-substitution 4
g.160729G>C/ variant-hgvs-gDNA-substitution 3
g.21502T>C variant-hgvs-gDNA-substitution 3
apoA-Ib.2-g.183A>T variant-hgvs-gDNA-substitution 3
g.2196G>A variant-hgvs-gDNA-substitution 3
g.78238C>T variant-hgvs-gDNA-substitution 3
g.1753C>T variant-hgvs-gDNA-substitution 3
apoA-Ib.2-g.1753C>T variant-hgvs-gDNA-substitution 3
Show sample for variant-hgvs-gDNA-substitution : (word, journal, publication, pattern, count, line, offset, length)
NG_007938.1:g.12083G>A, Transpl_Int ./Transpl_Int/Transpl_Int_2013_Dec_15_26(12)_1198-1207.txt variant-hgvs-gDNA-substitution 39 22 23
g.5446G>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 79 6 9
g.59695C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 82 5 10
g.64348C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 86 5 10
g.64348C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 87 4 10
g.65386C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 88 7 10
g.70261C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 89 7 10
g.76430C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 90 8 10
g.76430C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 91 4 10
g.76430C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 92 4 10
g.76430C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 93 4 10
g.76430C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 94 4 10
g.76898C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 95 5 10
g.78238C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 96 6 10
g.78238C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 97 4 10
g.150037C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 98 5 11
g.150037C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 99 4 11
g.150037C>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 100 5 11
g.153211T>A Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 101 5 11
g.160832G>T Fam_Cancer ./Fam_Cancer/Fam_Cancer_2012_Jun_29_11(2)_225-233.txt variant-hgvs-gDNA-substitution 106 7 11
* * * * * * * * * * * * * *
Found 183 matches for variant-hgvs-protein-deletion patterns :(p)\.([A-Z])([a-z]{2})?(\d+)(?:_([A-Z])([a-z]{2})?(\d+))?del
Show top 20 journals for variant-hgvs-protein-deletion : (journal, pattern, count)
PLoS_One variant-hgvs-protein-deletion 34
Eur_J_Hum_Genet variant-hgvs-protein-deletion 25
Mol_Genet_Genomic_Med variant-hgvs-protein-deletion 20
Orphanet_J_Rare_Dis variant-hgvs-protein-deletion 20
Mol_Vis variant-hgvs-protein-deletion 14
Sci_Rep variant-hgvs-protein-deletion 13
BMC_Res_Notes variant-hgvs-protein-deletion 8
Cilia variant-hgvs-protein-deletion 4
Hum_Mutat variant-hgvs-protein-deletion 4
Acta_Neuropathol_Commun variant-hgvs-protein-deletion 4
Brain variant-hgvs-protein-deletion 4
J_Am_Coll_Cardiol variant-hgvs-protein-deletion 4
Am_J_Ophthalmol variant-hgvs-protein-deletion 4
Metabolism variant-hgvs-protein-deletion 3
Nature variant-hgvs-protein-deletion 3
Nat_Genet variant-hgvs-protein-deletion 2
Front_Oncol variant-hgvs-protein-deletion 2
Indian_J_Hum_Genet variant-hgvs-protein-deletion 2
Genet_Med variant-hgvs-protein-deletion 2
J_Med_Genet variant-hgvs-protein-deletion 2
Show top 20 journal where distinct words are counted variant-hgvs-protein-deletion : (journal, pattern, distinct words count)
Mol_Genet_Genomic_Med variant-hgvs-protein-deletion 17
PLoS_One variant-hgvs-protein-deletion 17
Orphanet_J_Rare_Dis variant-hgvs-protein-deletion 10
Sci_Rep variant-hgvs-protein-deletion 10
Eur_J_Hum_Genet variant-hgvs-protein-deletion 8
Mol_Vis variant-hgvs-protein-deletion 8
Brain variant-hgvs-protein-deletion 4
Acta_Neuropathol_Commun variant-hgvs-protein-deletion 4
BMC_Res_Notes variant-hgvs-protein-deletion 3
Metabolism variant-hgvs-protein-deletion 3
Nature variant-hgvs-protein-deletion 3
Hum_Mutat variant-hgvs-protein-deletion 2
Cilia variant-hgvs-protein-deletion 2
J_Am_Coll_Cardiol variant-hgvs-protein-deletion 2
Genet_Med variant-hgvs-protein-deletion 2
Indian_J_Hum_Genet variant-hgvs-protein-deletion 2
Nat_Genet variant-hgvs-protein-deletion 1
Clin_Pract variant-hgvs-protein-deletion 1
Mol_Biol_Cell variant-hgvs-protein-deletion 1
Mol_Cells variant-hgvs-protein-deletion 1
Show top 20 words for variant-hgvs-protein-deletion : (word, pattern, count)
p.Phe508del variant-hgvs-protein-deletion 20
p.P43_G61del variant-hgvs-protein-deletion 6
p.Thr330del variant-hgvs-protein-deletion 5
p.G378_G380delGGG variant-hgvs-protein-deletion 4
p.Asn73del variant-hgvs-protein-deletion 4
p.Phe508del/p.Leu1077Pro variant-hgvs-protein-deletion 4
p.D32_Q34del variant-hgvs-protein-deletion 4
p.Val2985_Thr3001del variant-hgvs-protein-deletion 4
CCM1:p.N607_K675del variant-hgvs-protein-deletion 3
p.W409_G453del, variant-hgvs-protein-deletion 3
p.Glu216_Lys251del variant-hgvs-protein-deletion 3
p.Phe508del) variant-hgvs-protein-deletion 3
non-p.Phe508del variant-hgvs-protein-deletion 3
p.Ala31_Ala33del) variant-hgvs-protein-deletion 3
p.Ser192_Gly193delAGCGGC) variant-hgvs-protein-deletion 3
p.Asp608del variant-hgvs-protein-deletion 3
p.E229del variant-hgvs-protein-deletion 3
p.Ile109del variant-hgvs-protein-deletion 2
p.Ile507del variant-hgvs-protein-deletion 2
p.Ser192_Gly193delAGCGGC variant-hgvs-protein-deletion 2
Show sample for variant-hgvs-protein-deletion : (word, journal, publication, pattern, count, line, offset, length)
p.Phe508del Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-deletion 59 192 11
p.Gly118del Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-deletion 128 0 11
p.E229del Cilia ./Cilia/Cilia_2012_Oct_1_1_18.txt variant-hgvs-protein-deletion 90 6 9
p.E229del Cilia ./Cilia/Cilia_2012_Oct_1_1_18.txt variant-hgvs-protein-deletion 91 8 9
p.E229del** Cilia ./Cilia/Cilia_2012_Oct_1_1_18.txt variant-hgvs-protein-deletion 108 5 11
p.E229del Cilia ./Cilia/Cilia_2012_Oct_1_1_18.txt variant-hgvs-protein-deletion 113 26 9
(p.M1209_E1214delMFYKKE) Nature ./Nature/Nature_2011_Jan_27_469(7331)_539-542.txt variant-hgvs-protein-deletion 17 79 24
(p.A14_A17del, Nature ./Nature/Nature_2014_Oct_23_514(7523)_513-517.txt variant-hgvs-protein-deletion 118 240 14
(p.A14_A17del), Nature ./Nature/Nature_2014_Oct_23_514(7523)_513-517.txt variant-hgvs-protein-deletion 152 155 15
(p.Lys32del), Mol_Biol_Cell ./Mol_Biol_Cell/Mol_Biol_Cell_2011_Aug_1_22(15)_2716-2728.txt variant-hgvs-protein-deletion 14 176 13
(p.Phe508del) BMC_Res_Notes ./BMC_Res_Notes/BMC_Res_Notes_2013_Nov_13_6_461.txt variant-hgvs-protein-deletion 17 53 13
p.Phe508del BMC_Res_Notes ./BMC_Res_Notes/BMC_Res_Notes_2013_Nov_13_6_461.txt variant-hgvs-protein-deletion 33 83 11
p.Phe508del/p.Leu1077Pro BMC_Res_Notes ./BMC_Res_Notes/BMC_Res_Notes_2013_Nov_13_6_461.txt variant-hgvs-protein-deletion 40 6 24
p.Phe508del/p.Leu1077Pro BMC_Res_Notes ./BMC_Res_Notes/BMC_Res_Notes_2013_Nov_13_6_461.txt variant-hgvs-protein-deletion 41 7 24
p.Phe508del/p.Leu1077Pro BMC_Res_Notes ./BMC_Res_Notes/BMC_Res_Notes_2013_Nov_13_6_461.txt variant-hgvs-protein-deletion 42 7 24
p.Phe508del BMC_Res_Notes ./BMC_Res_Notes/BMC_Res_Notes_2013_Nov_13_6_461.txt variant-hgvs-protein-deletion 93 23 11
p.Phe508del/p.Leu1077Pro BMC_Res_Notes ./BMC_Res_Notes/BMC_Res_Notes_2013_Nov_13_6_461.txt variant-hgvs-protein-deletion 103 41 24
p.Phe508del BMC_Res_Notes ./BMC_Res_Notes/BMC_Res_Notes_2013_Nov_13_6_461.txt variant-hgvs-protein-deletion 116 44 11
p.Arg14del J_Med_Genet ./J_Med_Genet/J_Med_Genet_2013_Sep_19_50(9)_614-626.txt variant-hgvs-protein-deletion 125 10 10
p.Arg14del J_Med_Genet ./J_Med_Genet/J_Med_Genet_2013_Sep_19_50(9)_614-626.txt variant-hgvs-protein-deletion 137 9 10
* * * * * * * * * * * * * *
Found 3 matches for variant-hgvs-protein-deletion-insertion patterns :(p)\.([A-Z])([a-z]{2})?(\d+)(?:_([A-Z])([a-z]{2})?(\d+))?delins((?:[A-Z\*]([a-z]{2})?)+)
Show top 20 journals for variant-hgvs-protein-deletion-insertion : (journal, pattern, count)
Metabolism variant-hgvs-protein-deletion-insertion 1
Front_Endocrinol_(Lausanne) variant-hgvs-protein-deletion-insertion 1
Orphanet_J_Rare_Dis variant-hgvs-protein-deletion-insertion 1
Show top 20 journal where distinct words are counted variant-hgvs-protein-deletion-insertion : (journal, pattern, distinct words count)
Metabolism variant-hgvs-protein-deletion-insertion 1
Front_Endocrinol_(Lausanne) variant-hgvs-protein-deletion-insertion 1
Orphanet_J_Rare_Dis variant-hgvs-protein-deletion-insertion 1
Show top 20 words for variant-hgvs-protein-deletion-insertion : (word, pattern, count)
p.H24_Y25delinsQI variant-hgvs-protein-deletion-insertion 1
p.Leu64_Pro105delinsSer variant-hgvs-protein-deletion-insertion 1
(p.Gln552_Ser553delinsHisPhe). variant-hgvs-protein-deletion-insertion 1
Show sample for variant-hgvs-protein-deletion-insertion : (word, journal, publication, pattern, count, line, offset, length)
p.Leu64_Pro105delinsSer Metabolism ./Metabolism/Metabolism_2016_Mar_65(3)_48-53.txt variant-hgvs-protein-deletion-insertion 169 1 23
p.H24_Y25delinsQI Front_Endocrinol_(Lausanne) ./Front_Endocrinol_(Lausanne)/Front_Endocrinol_(Lausanne)_2015_Aug_5_6_113.txt variant-hgvs-protein-deletion-insertion 201 61 17
(p.Gln552_Ser553delinsHisPhe). Orphanet_J_Rare_Dis ./Orphanet_J_Rare_Dis/Orphanet_J_Rare_Dis_2016_Aug_22_11(1)_118.txt variant-hgvs-protein-deletion-insertion 310 46 30
* * * * * * * * * * * * * *
Found 11 matches for variant-hgvs-protein-duplication patterns :(p)\.([A-Z])([a-z]{2})?(\d+)(?:_([A-Z])([a-z]{2})?(\d+))?dup
Show top 20 journals for variant-hgvs-protein-duplication : (journal, pattern, count)
Mol_Vis variant-hgvs-protein-duplication 7
PLoS_One variant-hgvs-protein-duplication 2
BMC_Med_Genet variant-hgvs-protein-duplication 1
Medicine_(Baltimore) variant-hgvs-protein-duplication 1
Show top 20 journal where distinct words are counted variant-hgvs-protein-duplication : (journal, pattern, distinct words count)
Mol_Vis variant-hgvs-protein-duplication 3
PLoS_One variant-hgvs-protein-duplication 2
BMC_Med_Genet variant-hgvs-protein-duplication 1
Medicine_(Baltimore) variant-hgvs-protein-duplication 1
Show top 20 words for variant-hgvs-protein-duplication : (word, pattern, count)
(p.Ala224_Ala234dup10), variant-hgvs-protein-duplication 4
(p.Ala224_Ala234dup10) variant-hgvs-protein-duplication 2
(p.Glu128_Asn130dup), variant-hgvs-protein-duplication 1
p.P1441_P1443dup, variant-hgvs-protein-duplication 1
p.Gly380dup variant-hgvs-protein-duplication 1
p.Gly456dup) variant-hgvs-protein-duplication 1
(p.Ala224_Ala234dup10). variant-hgvs-protein-duplication 1
Show sample for variant-hgvs-protein-duplication : (word, journal, publication, pattern, count, line, offset, length)
p.P1441_P1443dup, Medicine_(Baltimore) ./Medicine_(Baltimore)/Medicine_(Baltimore)_2015_Jul_13_94(27)_e1073.txt variant-hgvs-protein-duplication 47 24 17
p.Gly380dup PLoS_One ./PLoS_One/PLoS_One_2016_Jul_27_11(7)_e0160016.txt variant-hgvs-protein-duplication 73 52 11
p.Gly456dup) PLoS_One ./PLoS_One/PLoS_One_2016_Jul_27_11(7)_e0160016.txt variant-hgvs-protein-duplication 73 55 12
(p.Ala224_Ala234dup10), Mol_Vis ./Mol_Vis/Mol_Vis_2013_Nov_16_19_2298-2305.txt variant-hgvs-protein-duplication 12 11 23
(p.Ala224_Ala234dup10) Mol_Vis ./Mol_Vis/Mol_Vis_2013_Nov_16_19_2298-2305.txt variant-hgvs-protein-duplication 12 19 22
(p.Ala224_Ala234dup10), Mol_Vis ./Mol_Vis/Mol_Vis_2013_Nov_16_19_2298-2305.txt variant-hgvs-protein-duplication 53 19 23
(p.Ala224_Ala234dup10). Mol_Vis ./Mol_Vis/Mol_Vis_2013_Nov_16_19_2298-2305.txt variant-hgvs-protein-duplication 55 20 23
(p.Ala224_Ala234dup10) Mol_Vis ./Mol_Vis/Mol_Vis_2013_Nov_16_19_2298-2305.txt variant-hgvs-protein-duplication 57 4 22
(p.Ala224_Ala234dup10), Mol_Vis ./Mol_Vis/Mol_Vis_2013_Nov_16_19_2298-2305.txt variant-hgvs-protein-duplication 57 93 23
(p.Ala224_Ala234dup10), Mol_Vis ./Mol_Vis/Mol_Vis_2013_Nov_16_19_2298-2305.txt variant-hgvs-protein-duplication 82 6 23
(p.Glu128_Asn130dup), BMC_Med_Genet ./BMC_Med_Genet/BMC_Med_Genet_2014_Jul_1_15_74.txt variant-hgvs-protein-duplication 89 87 21
* * * * * * * * * * * * * *
Found 0 matches for variant-hgvs-protein-extension patterns :(p)\.((?:Met|M|Ter|\*)\d+)([A-Z])([a-z]{2})?ext(?:([A-Z])([a-z]{2})?)*(\*|-)(\d+)
* * * * * * * * * * * * * *
Found 11 matches for variant-hgvs-protein-insertion patterns :(p)\.([A-Z])([a-z]{2})?(\d+)_([A-Z])([a-z]{2})?(\d+)ins((?:[A-Z\*]([a-z]{2})?)+)
Show top 20 journals for variant-hgvs-protein-insertion : (journal, pattern, count)
PLoS_One variant-hgvs-protein-insertion 11
Show top 20 journal where distinct words are counted variant-hgvs-protein-insertion : (journal, pattern, distinct words count)
PLoS_One variant-hgvs-protein-insertion 4
Show top 20 words for variant-hgvs-protein-insertion : (word, pattern, count)
p.A25_A26insAA variant-hgvs-protein-insertion 5
p.A25_A26insAA, variant-hgvs-protein-insertion 2
p.Glu233_Lys240insA] variant-hgvs-protein-insertion 2
(p.A25_A26insAA) variant-hgvs-protein-insertion 2
Show sample for variant-hgvs-protein-insertion : (word, journal, publication, pattern, count, line, offset, length)
p.A25_A26insAA PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 11 90 14
p.A25_A26insAA PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 81 4 14
p.A25_A26insAA PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 98 165 14
p.A25_A26insAA, PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 101 31 15
p.A25_A26insAA, PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 101 89 15
(p.A25_A26insAA) PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 104 25 16
p.A25_A26insAA PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 107 3 14
(p.A25_A26insAA) PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 127 22 16
p.A25_A26insAA PLoS_One ./PLoS_One/PLoS_One_2014_Aug_5_9(8)_e95453.txt variant-hgvs-protein-insertion 132 2 14
p.Glu233_Lys240insA] PLoS_One ./PLoS_One/PLoS_One_2016_Mar_18_11(3)_e0151429.txt variant-hgvs-protein-insertion 62 4 20
p.Glu233_Lys240insA] PLoS_One ./PLoS_One/PLoS_One_2016_Mar_18_11(3)_e0151429.txt variant-hgvs-protein-insertion 62 7 20
* * * * * * * * * * * * * *
Found 0 matches for variant-hgvs-protein-repeatedsequences patterns :(p)\.([A-Z])([a-z]{2})?(\d+)(?:_([A-Z])([a-z]{2})?(\d+))?\[(\d+)\]
* * * * * * * * * * * * * *
Found 5846 matches for variant-hgvs-protein-substitution patterns :(p)\.([A-Z])([a-z]{2})?(\d+)(?:([A-Z])([a-z]{2})?|(\*))
Show top 20 journals for variant-hgvs-protein-substitution : (journal, pattern, count)
PLoS_One variant-hgvs-protein-substitution 856
Mol_Vis variant-hgvs-protein-substitution 436
Orphanet_J_Rare_Dis variant-hgvs-protein-substitution 355
BMC_Med_Genet variant-hgvs-protein-substitution 258
Sci_Rep variant-hgvs-protein-substitution 237
Hum_Mutat variant-hgvs-protein-substitution 195
Eur_J_Hum_Genet variant-hgvs-protein-substitution 165
Nat_Commun variant-hgvs-protein-substitution 144
PLoS_Biol variant-hgvs-protein-substitution 128
Neth_Heart_J variant-hgvs-protein-substitution 128
BMC_Genet variant-hgvs-protein-substitution 101
Hum_Genome_Var variant-hgvs-protein-substitution 97
J_Exp_Med variant-hgvs-protein-substitution 87
J_Transl_Med variant-hgvs-protein-substitution 84
Endocr_Connect variant-hgvs-protein-substitution 83
Br_J_Cancer variant-hgvs-protein-substitution 79
Acta_Neuropathol_Commun variant-hgvs-protein-substitution 74
Mol_Cells variant-hgvs-protein-substitution 73
Br_J_Ophthalmol variant-hgvs-protein-substitution 70
Cilia variant-hgvs-protein-substitution 68
Show top 20 journal where distinct words are counted variant-hgvs-protein-substitution : (journal, pattern, distinct words count)
PLoS_One variant-hgvs-protein-substitution 435
Mol_Vis variant-hgvs-protein-substitution 296
Orphanet_J_Rare_Dis variant-hgvs-protein-substitution 285
Sci_Rep variant-hgvs-protein-substitution 198
Eur_J_Hum_Genet variant-hgvs-protein-substitution 148
BMC_Med_Genet variant-hgvs-protein-substitution 145
Hum_Mutat variant-hgvs-protein-substitution 111
BMC_Genet variant-hgvs-protein-substitution 96
J_Exp_Med variant-hgvs-protein-substitution 68
Hum_Genome_Var variant-hgvs-protein-substitution 67
Nat_Commun variant-hgvs-protein-substitution 61
Mol_Cells variant-hgvs-protein-substitution 56
J_Hum_Genet variant-hgvs-protein-substitution 52
Mol_Genet_Genomic_Med variant-hgvs-protein-substitution 46
Metabolism variant-hgvs-protein-substitution 45
Cilia variant-hgvs-protein-substitution 43
Nat_Genet variant-hgvs-protein-substitution 43
Br_J_Ophthalmol variant-hgvs-protein-substitution 42
J_Clin_Oncol variant-hgvs-protein-substitution 41
Acta_Neuropathol_Commun variant-hgvs-protein-substitution 40
Show top 20 words for variant-hgvs-protein-substitution : (word, pattern, count)
p.V1316A variant-hgvs-protein-substitution 120
p.A350V variant-hgvs-protein-substitution 91
p.S13F variant-hgvs-protein-substitution 48
p.N342D variant-hgvs-protein-substitution 46
p.A31P variant-hgvs-protein-substitution 41
p.V1184A variant-hgvs-protein-substitution 40
p.L858R variant-hgvs-protein-substitution 27
p.L811P variant-hgvs-protein-substitution 25
p.Leu1077Pro variant-hgvs-protein-substitution 22
p.Pro240Leu variant-hgvs-protein-substitution 21
p.Gly1324Ser variant-hgvs-protein-substitution 20
p.L1341P variant-hgvs-protein-substitution 20
p.G12S variant-hgvs-protein-substitution 19
p.G299R variant-hgvs-protein-substitution 18
p.D727E variant-hgvs-protein-substitution 18
p.Arg448Trp variant-hgvs-protein-substitution 16
p.Gly2891Asp variant-hgvs-protein-substitution 15
p.D150H variant-hgvs-protein-substitution 15
p.T790M variant-hgvs-protein-substitution 14
p.V600E variant-hgvs-protein-substitution 14
Show sample for variant-hgvs-protein-substitution : (word, journal, publication, pattern, count, line, offset, length)
p.C78W Pediatr_Rheumatol_Online_J ./Pediatr_Rheumatol_Online_J/Pediatr_Rheumatol_Online_J_2013_Nov_8_11(Suppl_1)_A184.txt variant-hgvs-protein-substitution 15 79 6
p.L227X Pediatr_Rheumatol_Online_J ./Pediatr_Rheumatol_Online_J/Pediatr_Rheumatol_Online_J_2013_Nov_8_11(Suppl_1)_A184.txt variant-hgvs-protein-substitution 15 84 7
p.C78W Pediatr_Rheumatol_Online_J ./Pediatr_Rheumatol_Online_J/Pediatr_Rheumatol_Online_J_2013_Nov_8_11(Suppl_1)_A184.txt variant-hgvs-protein-substitution 15 90 6
p.L227X Pediatr_Rheumatol_Online_J ./Pediatr_Rheumatol_Online_J/Pediatr_Rheumatol_Online_J_2013_Nov_8_11(Suppl_1)_A184.txt variant-hgvs-protein-substitution 15 102 7
p.L149R. Pediatr_Rheumatol_Online_J ./Pediatr_Rheumatol_Online_J/Pediatr_Rheumatol_Online_J_2015_Sep_28_13(Suppl_1)_P57.txt variant-hgvs-protein-substitution 15 47 8
p.Val438Met Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 88 6 11
p.Gln584X; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 90 1 10
p.Pro632Ser Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 91 0 11
p.Arg385Ser; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 94 1 12
p.Met325Arg Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 95 0 11
p.Arg281X; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 96 6 10
p.Gln186Hisfs*6 Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 97 0 15
p.Val397Glyfs*19; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 99 1 17
p.Gln129Arg Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 100 0 11
p.Cys509Serfs*14 Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 101 6 16
p.Gly180Val; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 102 6 12
p.Gln186Hisfs*6 Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 103 0 15
p.Cys509Serfs*14 Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 104 4 16
p.Ala291Val Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 105 6 11
p.Ala289Val; Genet_Med ./Genet_Med/Genet_Med_2015_Aug_6_17(8)_660-667.txt variant-hgvs-protein-substitution 107 7 12
* * * * * * * * * * * * * *
Found 602 matches for variant-hgvs—protein-frameshift patterns :(p)\.([A-Z])([a-z]{2})?(\d+)(?:([A-Z])([a-z]{2})?)?fs(?:(?:\*|Ter)(\d+))?
Show top 20 journals for variant-hgvs—protein-frameshift : (journal, pattern, count)
Mol_Vis variant-hgvs—protein-frameshift 70
PLoS_One variant-hgvs—protein-frameshift 52
Orphanet_J_Rare_Dis variant-hgvs—protein-frameshift 50
BMC_Med_Genet variant-hgvs—protein-frameshift 46
Mol_Genet_Genomic_Med variant-hgvs—protein-frameshift 26
Eur_J_Hum_Genet variant-hgvs—protein-frameshift 26
Cilia variant-hgvs—protein-frameshift 25
Sci_Rep variant-hgvs—protein-frameshift 25
Hum_Genome_Var variant-hgvs—protein-frameshift 21
J_Hum_Genet variant-hgvs—protein-frameshift 15
BMC_Genomics variant-hgvs—protein-frameshift 15
Nat_Genet variant-hgvs—protein-frameshift 15
Acta_Neuropathol_Commun variant-hgvs—protein-frameshift 13
Int_J_Mol_Med variant-hgvs—protein-frameshift 13
Mol_Cells variant-hgvs—protein-frameshift 12
Diagn_Pathol variant-hgvs—protein-frameshift 11
Hum_Mutat variant-hgvs—protein-frameshift 10
Fam_Cancer variant-hgvs—protein-frameshift 9
Oncotarget variant-hgvs—protein-frameshift 9
eLife variant-hgvs—protein-frameshift 8
Show top 20 journal where distinct words are counted variant-hgvs—protein-frameshift : (journal, pattern, distinct words count)
Mol_Vis variant-hgvs—protein-frameshift 53
PLoS_One variant-hgvs—protein-frameshift 43
Orphanet_J_Rare_Dis variant-hgvs—protein-frameshift 38
BMC_Med_Genet variant-hgvs—protein-frameshift 35
Eur_J_Hum_Genet variant-hgvs—protein-frameshift 26
Sci_Rep variant-hgvs—protein-frameshift 25
Mol_Genet_Genomic_Med variant-hgvs—protein-frameshift 25
Hum_Genome_Var variant-hgvs—protein-frameshift 16
Cilia variant-hgvs—protein-frameshift 16
J_Hum_Genet variant-hgvs—protein-frameshift 14
Nat_Genet variant-hgvs—protein-frameshift 12
Mol_Cells variant-hgvs—protein-frameshift 11
Acta_Neuropathol_Commun variant-hgvs—protein-frameshift 11
Diagn_Pathol variant-hgvs—protein-frameshift 10