-
Notifications
You must be signed in to change notification settings - Fork 2
/
annotation_export.tsv
We can make this file beautiful and searchable if this error is corrected: It looks like row 3 should actually have 111 columns, instead of 60 in line 2.
435 lines (435 loc) · 103 KB
/
annotation_export.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
cr_id lab lab_record_id c_hgvs_38 status splice_ai_acceptor_gain splice_ai_acceptor_loss splice_ai_donor_gain splice_ai_donor_loss amino_acids annotation_run cadd_phred canonical canonical_score codons consequence distance domains ensembl_protein ensembl_transcript_accession exon fathmm_pred_most_damaging flags gene gene_id gene_symbol gerp_pp_rs gnomad_gene_constraint_method gnomad_gene_constraint_oe_lof_summary gnomad_gene_constraint_url grantham hgvs_c hgvs_p id impact interpro_domain intron maxentscan_alt maxentscan_diff maxentscan_percent_diff_ref maxentscan_ref mutation_assessor_pred_most_damaging mutation_taster_pred_most_damaging nmd_escaping_variant polyphen2_hvar_pred_most_damaging protein_length protein_position refseq_transcript_accession representative revel_score selected sift splice_region symbol tags transcript transcript_id transcript_version variant version amino_acids annotation_run cadd_phred canonical canonical_score codons consequence distance domains ensembl_protein ensembl_transcript_accession exon fathmm_pred_most_damaging flags gene gene_id gene_symbol gerp_pp_rs gnomad_gene_constraint_method gnomad_gene_constraint_oe_lof_summary gnomad_gene_constraint_url grantham hgvs_c hgvs_p id impact interpro_domain intron maxentscan_alt maxentscan_diff maxentscan_percent_diff_ref maxentscan_ref mutation_assessor_pred_most_damaging mutation_taster_pred_most_damaging nmd_escaping_variant polyphen2_hvar_pred_most_damaging protein_length protein_position refseq_transcript_accession representative revel_score selected sift splice_region symbol tags transcript transcript_id transcript_version variant version
datafile_31_1 nswhp/randwick_lab datafile_31_1 NM_005691.3(ABCC9):c.3347G>A transcript-annotated 0.0 0.13 0.0 0.0 R/H 1347 32.0 1 cGc/cAc missense_variant NP_005682.2 27/38 Damaging 10060 10060 ABCC9 5.31 gene symbol 0.36 (0.27 - 0.48) https://gnomad.broadinstitute.org/gene/ABCC9 29 NM_005691.3:c.3347G>A NP_005682.2:p.Arg1116His 89854531 MODERATE _transmembrane_domain&ABC_transporter_type_1 Medium Disease Causing Possibly Damaging 1549 1116 NM_005691.3 True 0.811 True Damaging ABCC9 ['RefSeq Select'] NM_005691 NM_005691.3 1024539 33021532 11
datafile_22_1 nswhp/randwick_lab datafile_22_1 NM_003491.3(NAA10):c.247C>T variant-annotated
datafile_12_1 nswhp/randwick_lab datafile_12_1 NM_205768.3(ZBTB18):c.143G>A variant-annotated
datafile_6_1 nswhp/randwick_lab datafile_6_1 NM_016123.3(IRAK4):c.775T>A variant-annotated
datafile_10_1 nswhp/randwick_lab datafile_10_1 NM_001376.4(DYNC1H1):c.6160C>G variant-annotated
datafile_30_1 nswhp/randwick_lab datafile_30_1 NM_004380.2(CREBBP):c.6202C>T variant-annotated
datafile_3_1 nswhp/randwick_lab datafile_3_1 NM_001256182.1(ANKRD11):c.7216C>T variant-annotated
datafile_21_1 nswhp/randwick_lab datafile_21_1 NM_001396.4(DYRK1A):c.328-2A>G transcript-annotated 0.76 0.93 0.0 0.0 1345 0 splice_acceptor_variant NP_001387.2 1859 1859 DYRK1A gene symbol 0.08 (0.04 - 0.21) https://gnomad.broadinstitute.org/gene/DYRK1A NM_001396.4:c.328-2A>G 89031657 HIGH 4/11 1.681 7.955 82.55500207555002 9.636 763 NM_001396.4 False False DYRK1A [] NM_001396 NM_001396.4 1048900 32772953 11
datafile_2_1 nswhp/randwick_lab datafile_2_1 NM_001396.3(DYRK1A):c.1098G>A variant-annotated 0.0 0.0 0.55 0.37
datafile_1_2 nswhp/randwick_lab datafile_1_2 NM_001195249.1(APTX):c.875-1G>A transcript-annotated 0.4 0.98 0.0 0.0 1344 0 splice_acceptor_variant NP_001182178.1 54840 54840 APTX gene symbol 0.86 (0.58 - 1.30) https://gnomad.broadinstitute.org/gene/APTX NM_001195249.1:c.875-1G>A 88870338 HIGH 7/7 2.928 8.75 74.92721356396643 11.678 342 NM_001195249.1 False False APTX [] NM_001195249 NM_001195249.1 1014433 32722808 11
datafile_1_1 nswhp/randwick_lab datafile_1_1 NM_001195249.1(APTX):c.875-1G>A transcript-annotated 0.4 0.98 0.0 0.0 1344 0 splice_acceptor_variant NP_001182178.1 54840 54840 APTX gene symbol 0.86 (0.58 - 1.30) https://gnomad.broadinstitute.org/gene/APTX NM_001195249.1:c.875-1G>A 88870338 HIGH 7/7 2.928 8.75 74.92721356396643 11.678 342 NM_001195249.1 False False APTX [] NM_001195249 NM_001195249.1 1014433 32722808 11
datafile_14_1 nswhp/randwick_lab datafile_14_1 NM_000093.4(COL5A1):c.4457G>C variant-annotated 0.0 0.04 0.02 0.0
datafile_33_1 nswhp/randwick_lab datafile_33_1 NM_022455.4(NSD1):c.6311_6312delAG transcript-annotated Q/X 1346 1 cAG/c frameshift_variant NP_071900.2 22/23 64324 64324 NSD1 gene symbol 0.05 (0.02 - 0.10) https://gnomad.broadinstitute.org/gene/NSD1 NM_022455.4:c.6311_6312del NP_071900.2:p.Gln2104ArgfsTer8 89332165 HIGH 2696 2104 NM_022455.4 True True NSD1 ['RefSeq Select'] NM_022455 NM_022455.4 1001434 32865461 11
datafile_49_1 nswhp/randwick_lab datafile_49_1 NM_033360.2(KRAS):c.173C>T variant-annotated 0.0 0.0 0.03 0.0
datafile_37_1 nswhp/randwick_lab datafile_37_1 NM_052876.4(NACC1):c.892C>T transcript-annotated R/W 1352 26.8 True 2 Cgg/Tgg missense_variant NP_443108.1 2/6 Tolerated 112939 112939 NACC1 4.89 gene symbol 0.00 (0.00 - 0.17) https://gnomad.broadinstitute.org/gene/NACC1 101 NM_052876.4:c.892C>T NP_443108.1:p.Arg298Trp 90628458 MODERATE Medium Disease Causing Probably Damaging 527 298 NM_052876.4 True 0.364 True Tolerated NACC1 ['MANE Select'] NM_052876 NM_052876.4 1094780 33437472 11
datafile_38_1 nswhp/randwick_lab datafile_38_1 NM_001197104.1(KMT2A):c.10700C>T variant-annotated
datafile_48_1 nswhp/randwick_lab datafile_48_1 NM_015409.4(EP400):c.5301C>G variant-annotated 0.0 0.02 0.0 0.07
datafile_50_1 nswhp/randwick_lab datafile_50_1 NM_000095.2(COMP):c.2162G>A variant-annotated 0.14 0.0 0.0 0.0
datafile_53_1 nswhp/randwick_lab datafile_53_1 NM_025219.2(DNAJC5):c.478C>T variant-annotated
datafile_32_1 nswhp/randwick_lab datafile_32_1 NM_004366.5(CLCN2):c.1088G>A variant-annotated 0.0 0.03 0.0 0.0
datafile_54_1 nswhp/randwick_lab datafile_54_1 NM_152292.4(TRMT10A):c.348G>C variant-annotated 0.0 0.0 0.55 0.93
datafile_42_1 nswhp/randwick_lab datafile_42_1 NM_023110.2(FGFR1):c.760C>T variant-annotated 0.03 0.0 0.0 0.0
datafile_43_1 nswhp/randwick_lab datafile_43_1 NM_139058.2(ARX):c.101G>C variant-annotated
datafile_52_1 nswhp/randwick_lab datafile_52_1 NM_018684.3(ZC4H2):c.144C>G variant-annotated
datafile_46_1 nswhp/randwick_lab datafile_46_1 NM_002024.5(FMR1):c.317T>A variant-annotated
datafile_63_1 nswhp/randwick_lab datafile_63_1 NM_015909.3(NBAS):c.409C>T variant-annotated
datafile_76_1 nswhp/randwick_lab datafile_76_1 NM_005188.3(CBL):c.1228-2A>G variant-annotated 0.87 1.0 0.0 0.07
datafile_60_1 nswhp/randwick_lab datafile_60_1 NM_000834.3(GRIN2B):c.2065G>A variant-annotated 0.01 0.0 0.0 0.0
datafile_72_1 nswhp/randwick_lab datafile_72_1 NM_001100913.2(PACS2):c.625G>A variant-annotated 0.0 0.0 0.01 0.03
datafile_67_1 nswhp/randwick_lab datafile_67_1 NM_152296.4(ATP1A3):c.1838C>T variant-annotated
datafile_79_1 nswhp/randwick_lab datafile_79_1 NM_000834.3(GRIN2B):c.1376G>C variant-annotated
datafile_68_1 nswhp/randwick_lab datafile_68_1 NM_003075.3(SMARCC2):c.1838T>C variant-annotated
datafile_65_1 nswhp/randwick_lab datafile_65_1 NM_015087.4(SPART):c.256C>T variant-annotated
datafile_74_1 nswhp/randwick_lab datafile_74_1 NM_014795.3(ZEB2):c.528C>A variant-annotated
datafile_81_1 nswhp/randwick_lab datafile_81_1 NM_001165963.1(SCN1A):c.2866A>G variant-annotated
datafile_58_1 nswhp/randwick_lab datafile_58_1 NM_022095.3(ZNF335):c.3308T>C variant-annotated 0.0 0.0 0.01 0.0
datafile_57_1 nswhp/randwick_lab datafile_57_1 NM_001080517.2(SETD5):c.1129T>C variant-annotated
datafile_70_1 nswhp/randwick_lab datafile_70_1 NM_001077525.2(MTMR14):c.628T>C variant-annotated 0.0 0.0 0.01 0.0
datafile_75_1 nswhp/randwick_lab datafile_75_1 NM_021072.3(HCN1):c.1166T>C variant-annotated
datafile_62_1 nswhp/randwick_lab datafile_62_1 NM_006180.4(NTRK2):c.2143C>T variant-annotated
datafile_69_1 nswhp/randwick_lab datafile_69_1 NM_006517.4(SLC16A2):c.118G>T variant-annotated
datafile_77_1 nswhp/randwick_lab datafile_77_1 NM_000489.4(ATRX):c.7285C>T variant-annotated
datafile_106_1 nswhp/randwick_lab datafile_106_1 NM_004958.3(MTOR):c.5395G>A variant-annotated
datafile_89_1 nswhp/randwick_lab datafile_89_1 NM_014140.3(SMARCAL1):c.2291G>A variant-annotated
datafile_84_1 nswhp/randwick_lab datafile_84_1 NM_032682.5(FOXP1):c.1573C>T variant-annotated 0.0 0.29 0.09 0.0
datafile_90_1 nswhp/randwick_lab datafile_90_1 NM_001101.4(ACTB):c.1043C>T variant-annotated
datafile_86_1 nswhp/randwick_lab datafile_86_1 NM_018026.3(PACS1):c.607C>T variant-annotated
datafile_88_1 nswhp/randwick_lab datafile_88_1 NM_000295.4(SERPINA1):c.1096G>A variant-annotated
datafile_93_1 nswhp/randwick_lab datafile_93_1 NM_001231.4(CASQ1):c.1168G>A variant-annotated
datafile_107_1 nswhp/randwick_lab datafile_107_1 NM_172362.2(KCNH1):c.2950G>C variant-annotated
datafile_104_1 nswhp/randwick_lab datafile_104_1 NM_002335.3(LRP5):c.796C>T variant-annotated 0.01 0.0 0.0 0.0
datafile_103_1 nswhp/randwick_lab datafile_103_1 NM_001999.3(FBN2):c.4231G>A variant-annotated 0.0 0.01 0.0 0.0
datafile_100_1 nswhp/randwick_lab datafile_100_1 NM_014491.3(FOXP2):c.2063C>T variant-annotated
datafile_97_1 nswhp/randwick_lab datafile_97_1 NM_004959.4(NR5A1):c.1139-1G>T variant-annotated 0.64 0.99 0.0 0.0
datafile_96_1 nswhp/randwick_lab datafile_96_1 NM_004006.2(DMD):c.8776C>T transcript-annotated Q/* 1395 50.0 1 Cag/Tag stop_gained NP_003997.1 59/79 1756 1756 DMD 5.4 gene symbol 0.10 (0.07 - 0.15) https://gnomad.broadinstitute.org/gene/DMD NM_004006.2:c.8776C>T NP_003997.1:p.Gln2926Ter 96328373 HIGH Disease causing (automatic) 3685 2926 NM_004006.2 True True DMD ['RefSeq Select'] NM_004006 NM_004006.2 1051318 36350240 11
datafile_98_1 nswhp/randwick_lab datafile_98_1 NM_001356.4(DDX3X):c.543+1G>T transcript-annotated 0.0 0.0 0.0 0.99 1395 1 splice_donor_variant NP_001347.3 1654 1654 DDX3X gene symbol 0.00 (0.00 - 0.12) https://gnomad.broadinstitute.org/gene/DDX3X NM_001356.4:c.543+1G>T 96328390 HIGH 6/16 -1.547 8.504 122.23659623400891 6.957 662 NM_001356.4 False True DDX3X ['RefSeq Select'] NM_001356 NM_001356.4 1051392 36350243 11
datafile_113_1 nswhp/randwick_lab datafile_113_1 NM_017780.3(CHD7):c.7957C>T variant-annotated
datafile_130_1 nswhp/randwick_lab datafile_130_1 NM_033360.2(KRAS):c.40G>A variant-annotated 0.0 0.01 0.0 0.0
datafile_132_1 nswhp/randwick_lab datafile_132_1 NM_002834.4(PTPN11):c.923A>G variant-annotated 0.0 0.0 0.01 0.0
datafile_128_1 nswhp/randwick_lab datafile_128_1 NM_000115.4(EDNRB):c.1139G>C variant-annotated 0.0 0.0 0.0 0.03
datafile_115_1 nswhp/randwick_lab datafile_115_1 NM_134261.2(RORA):c.1498C>T variant-annotated
datafile_129_1 nswhp/randwick_lab datafile_129_1 NM_001282531.2(ADNP):c.2496_2499delTAAA variant-annotated
datafile_123_1 nswhp/randwick_lab datafile_123_1 NM_019597.4(HNRNPH2):c.616C>T variant-annotated
datafile_110_1 nswhp/randwick_lab datafile_110_1 NM_015100.3(POGZ):c.803G>T variant-annotated
datafile_114_1 nswhp/randwick_lab datafile_114_1 NM_003482.3(KMT2D):c.15289C>T transcript-annotated R/* 1348 51.0 1 Cga/Tga stop_gained NP_003473.3 48/54 8085 8085 KMT2D 4.58 gene symbol 0.07 (0.04 - 0.10) https://gnomad.broadinstitute.org/gene/KMT2D NM_003482.3:c.15289C>T NP_003473.3:p.Arg5097Ter 89410124 HIGH Extended_PHD_(ePHD)_domain&Zinc_finger&_RING-type&_PHD-type Disease causing (automatic) 5537 5097 NM_003482.3 True True KMT2D ['RefSeq Select'] NM_003482 NM_003482.3 1024959 33031369 11
datafile_127_1 nswhp/randwick_lab datafile_127_1 NM_000833.4(GRIN2A):c.2928T>A variant-annotated
datafile_112_1 nswhp/randwick_lab datafile_112_1 NM_001128849.1(SMARCA4):c.3524A>G variant-annotated
datafile_133_1 nswhp/randwick_lab datafile_133_1 NM_001022.3(RPS19):c.376C>T variant-annotated 0.01 0.01 0.0 0.0
datafile_134_1 nswhp/randwick_lab datafile_134_1 NM_006767.3(LZTR1):c.476C>T variant-annotated
datafile_126_1 nswhp/randwick_lab datafile_126_1 NM_198196.2(CD96):c.855+5G>A variant-annotated 0.0 0.0 0.03 0.84
datafile_136_1 nswhp/randwick_lab datafile_136_1 NM_006772.2(SYNGAP1):c.3676C>T variant-annotated 0.05 0.0 0.0 0.0
datafile_125_1 nswhp/randwick_lab datafile_125_1 NM_007175.6(ERLIN2):c.194C>T variant-annotated 0.0 0.03 0.0 0.04
datafile_117_1 nswhp/randwick_lab datafile_117_1 NM_001039590.3(USP9X):c.4346T>C transcript-annotated I/T 1395 25.0 0 aTt/aCt missense_variant NP_001034679.2 29/45 Tolerated 8239 8239 USP9X 5.3 gene symbol 0.01 (0.00 - 0.05) https://gnomad.broadinstitute.org/gene/USP9X 89 NM_001039590.3:c.4346T>C NP_001034679.2:p.Ile1449Thr 96328386 MODERATE Medium Disease Causing Benign 2570 1449 NM_001039590.3 False 0.474 False Damaging USP9X [] NM_001039590 NM_001039590.3 1080632 36350242 11
datafile_124_1 nswhp/randwick_lab datafile_124_1 NM_000202.7(IDS):c.1085A>G variant-annotated
datafile_156_2 nswhp/randwick_lab datafile_156_2 NM_002296.3(LBR):c.1528G>A variant-annotated
datafile_156_1 nswhp/randwick_lab datafile_156_1 NM_002296.3(LBR):c.1528G>A variant-annotated
datafile_143_1 nswhp/randwick_lab datafile_143_1 NM_006245.3(PPP2R5D):c.592G>A variant-annotated 0.0 0.02 0.0 0.0
datafile_145_1 nswhp/randwick_lab datafile_145_1 NM_001350626.1(BRAT1):c.294dupA variant-annotated 0.0 0.04 0.0 0.0
datafile_159_1 nswhp/randwick_lab datafile_159_1 NM_001396.4(DYRK1A):c.349C>T transcript-annotated R/* 1345 37.0 0 Cga/Tga stop_gained NP_001387.2 5/12 1859 1859 DYRK1A 5.42 gene symbol 0.08 (0.04 - 0.21) https://gnomad.broadinstitute.org/gene/DYRK1A NM_001396.4:c.349C>T NP_001387.2:p.Arg117Ter 89031678 HIGH Disease causing (automatic) 763 117 NM_001396.4 False False DYRK1A [] NM_001396 NM_001396.4 1048900 32772958 11
datafile_202_2 nswhp/randwick_lab datafile_202_2 NM_000702.3(ATP1A2):c.2324A>G variant-annotated
datafile_152_1 nswhp/randwick_lab datafile_152_1 NM_000702.3(ATP1A2):c.2324A>G variant-annotated
datafile_202_1 nswhp/randwick_lab datafile_202_1 NM_000702.3(ATP1A2):c.2324A>G variant-annotated
datafile_138_1 nswhp/randwick_lab datafile_138_1 NM_001131023.1(PEX5):c.191C>A variant-annotated 0.0 0.0 0.37 0.06
datafile_165_1 nswhp/randwick_lab datafile_165_1 NM_194318.3(B3GLCT):c.502A>G variant-annotated
datafile_144_1 nswhp/randwick_lab datafile_144_1 NM_030665.3(RAI1):c.1460G>T variant-annotated
datafile_162_1 nswhp/randwick_lab datafile_162_1 NM_001127228.2(CBX1):c.155G>T transcript-annotated W/L 1395 29.2 True 2 tGg/tTg missense_variant NP_001120700.1 3/5 Damaging 10951 10951 CBX1 5.85 gene symbol 0.00 (0.00 - 0.26) https://gnomad.broadinstitute.org/gene/CBX1 61 NM_001127228.2:c.155G>T NP_001120700.1:p.Trp52Leu 96328271 MODERATE _conserved_site&Chromo_domain_subgroup&Chromo_domain&Chromo/chromo_shadow_domain High Disease Causing Probably Damaging 185 52 NM_001127228.2 True 0.918 True Damaging CBX1 ['MANE Select'] NM_001127228 NM_001127228.2 1097902 36350158 11
datafile_146_1 nswhp/randwick_lab datafile_146_1 NM_001271043.2(NFIX):c.1248C>A transcript-annotated C/* 1395 37.0 0 tgC/tgA stop_gained NP_001257972.1 8/11 4784 4784 NFIX 2.56 gene symbol 0.00 (0.00 - 0.15) https://gnomad.broadinstitute.org/gene/NFIX NM_001271043.2:c.1248C>A NP_001257972.1:p.Cys416Ter 96328293 HIGH Disease causing (automatic) 510 416 NM_001271043.2 False False NFIX [] NM_001271043 NM_001271043.2 1042129 36350167 11
datafile_153_1 nswhp/randwick_lab datafile_153_1 NM_000726.4(CACNB4):c.301G>T transcript-annotated 0.0 0.01 0.0 0.0 V/L 1395 23.4 1 Gtg/Ttg missense_variant NP_000717.2 4/14 Damaging 785 785 CACNB4 5.4 gene symbol 0.28 (0.17 - 0.49) https://gnomad.broadinstitute.org/gene/CACNB4 32 NM_000726.4:c.301G>T NP_000717.2:p.Val101Leu 96327772 MODERATE SH3_domain Medium Disease Causing Probably Damaging 520 101 NM_000726.4 True 0.865 True Tolerated CACNB4 ['RefSeq Select'] NM_000726 NM_000726.4 990124 36350180 11
datafile_139_1 nswhp/randwick_lab datafile_139_1 NM_001270.2(CHD1):c.5122C>T variant-annotated
datafile_142_2 nswhp/randwick_lab datafile_142_2 NM_078629.3(MSL3):c.1314C>A variant-annotated
datafile_142_1 nswhp/randwick_lab datafile_142_1 NM_078629.3(MSL3):c.1314C>A variant-annotated
datafile_163_1 nswhp/randwick_lab datafile_163_1 NM_138923.3(TAF1):c.4517C>T variant-annotated 0.01 0.0 0.0 0.0
datafile_161_1 nswhp/randwick_lab datafile_161_1 NM_018486.2(HDAC8):c.757C>T variant-annotated 0.0 0.39 0.0 0.0
datafile_147_1 nswhp/randwick_lab datafile_147_1 NM_183353.2(RLIM):c.1544G>C variant-annotated
datafile_204_1 nswhp/randwick_lab datafile_204_1 NM_004991.3(MECOM):c.2812C>T variant-annotated 0.0 0.11 0.0 0.11
datafile_170_1 nswhp/randwick_lab datafile_170_1 NM_006766.4(KAT6A):c.4645G>A variant-annotated
datafile_171_1 nswhp/randwick_lab datafile_171_1 NM_000263.3(NAGLU):c.934G>A variant-annotated
datafile_194_4 nswhp/randwick_lab datafile_194_4 NM_001291860.1(HSPG2):c.4958+3A>T variant-annotated 0.0 0.0 0.65 0.66
datafile_194_2 nswhp/randwick_lab datafile_194_2 NM_001291860.1(HSPG2):c.4958+3A>T variant-annotated 0.0 0.0 0.65 0.66
datafile_194_1 nswhp/randwick_lab datafile_194_1 NM_001291860.1(HSPG2):c.4958+3A>T variant-annotated 0.0 0.0 0.65 0.66
datafile_194_3 nswhp/randwick_lab datafile_194_3 NM_001291860.1(HSPG2):c.4958+3A>T variant-annotated 0.0 0.0 0.65 0.66
datafile_182_1 nswhp/randwick_lab datafile_182_1 NM_001029882.3(AHDC1):c.1313delC transcript-annotated P/X 1395 0 cCt/ct frameshift_variant NP_001025053.1 6/7 27245 27245 AHDC1 gene symbol 0.00 (0.00 - 0.08) https://gnomad.broadinstitute.org/gene/AHDC1 NM_001029882.3:c.1313del NP_001025053.1:p.Pro438LeufsTer14 96327717 HIGH 1603 438 NM_001029882.3 True False AHDC1 [] NM_001029882 NM_001029882.3 981862 36350078 11
datafile_192_1 nswhp/randwick_lab datafile_192_1 NM_018489.2(ASH1L):c.4342C>T variant-annotated 0.01 0.0 0.0 0.0
datafile_193_1 nswhp/randwick_lab datafile_193_1 NM_031844.2(HNRNPU):c.508C>T variant-annotated
datafile_175_1 nswhp/randwick_lab datafile_175_1 NM_031844.2(HNRNPU):c.325G>C variant-annotated
datafile_189_1 nswhp/randwick_lab datafile_189_1 NM_000424.4(KRT5):c.1398G>T transcript-annotated E/D 1395 31.0 True 2 gaG/gaT missense_variant NP_000415.2 7/9 Damaging 3852 3852 KRT5 5.93 gene symbol 0.19 (0.09 - 0.44) https://gnomad.broadinstitute.org/gene/KRT5 45 NM_000424.4:c.1398G>T NP_000415.2:p.Glu466Asp 96328118 MODERATE _rod_domain&Intermediate_filament High Disease Causing Probably Damaging 590 466 NM_000424.4 True 0.925 True Damaging KRT5 ['MANE Select'] NM_000424 NM_000424.4 1077494 36350116 11
datafile_180_1 nswhp/randwick_lab datafile_180_1 NM_015477.2(SIN3A):c.3025C>T variant-annotated 0.02 0.04 0.0 0.01
datafile_203_1 nswhp/randwick_lab datafile_203_1 NM_001256182.2(ANKRD11):c.5398G>A transcript-annotated E/K 1395 23.3 0 Gag/Aag missense_variant NP_001243111.1 10/14 Tolerated 29123 29123 ANKRD11 4.9 gene symbol 0.05 (0.02 - 0.11) https://gnomad.broadinstitute.org/gene/ANKRD11 56 NM_001256182.2:c.5398G>A NP_001243111.1:p.Glu1800Lys 96328257 MODERATE Low Disease Causing Possibly Damaging 2663 1800 NM_001256182.2 False 0.205 False Damaging ANKRD11 [] NM_001256182 NM_001256182.2 1090129 36350154 11
datafile_174_1 nswhp/randwick_lab datafile_174_1 NM_015125.3(CIC):c.3202G>T variant-annotated 0.0 0.0 0.15 0.0
datafile_187_1 nswhp/randwick_lab datafile_187_1 NM_022552.5(DNMT3A):c.1741T>A variant-annotated
datafile_185_1 nswhp/randwick_lab datafile_185_1 NM_176869.2(PPA2):c.379C>T variant-annotated
datafile_184_1 nswhp/randwick_lab datafile_184_1 NM_133433.3(NIPBL):c.64+1G>T variant-annotated 0.0 0.0 0.0 0.98
datafile_184_2 nswhp/randwick_lab datafile_184_2 NM_133433.3(NIPBL):c.64+1G>T variant-annotated 0.0 0.0 0.0 0.98
datafile_222_1 nswhp/randwick_lab datafile_222_1 NM_001204961.2(PBX1):c.704G>A variant-annotated 0.57 0.01 0.0 0.0
datafile_229_1 nswhp/randwick_lab datafile_229_1 NM_001354689.1(RAF1):c.770C>T variant-annotated
datafile_234_1 nswhp/randwick_lab datafile_234_1 NM_001012614.1(CTBP1):c.991C>T variant-annotated 0.0 0.01 0.0 0.0
datafile_221_1 nswhp/randwick_lab datafile_221_1 NM_002890.3(RASA1):c.2245C>T transcript-annotated R/* 1347 41.0 True 2 Cga/Tga stop_gained NP_002881.1 17/25 5921 5921 RASA1 5.41 gene symbol 0.05 (0.02 - 0.13) https://gnomad.broadinstitute.org/gene/RASA1 NM_002890.3:c.2245C>T NP_002881.1:p.Arg749Ter 89747822 HIGH Ras_GTPase-activating_domain Disease causing (automatic) 1047 749 NM_002890.3 True True RASA1 ['MANE Select'] NM_002890 NM_002890.3 1089182 32981990 11
datafile_225_1 nswhp/randwick_lab datafile_225_1 NM_006245.3(PPP2R5D):c.758G>A variant-annotated 0.0 0.0 0.0 0.01
datafile_227_1 nswhp/randwick_lab datafile_227_1 NM_001396.5(DYRK1A):c.763C>T variant-annotated
datafile_232_1 nswhp/randwick_lab datafile_232_1 NM_006755.1(TALDO1):c.617A>G variant-annotated 0.0 0.0 0.49 0.02
datafile_208_1 nswhp/randwick_lab datafile_208_1 NM_000424.4(KRT5):c.1394T>A transcript-annotated V/E 1395 35.0 True 2 gTg/gAg missense_variant NP_000415.2 7/9 Damaging 3852 3852 KRT5 5.93 gene symbol 0.19 (0.09 - 0.44) https://gnomad.broadinstitute.org/gene/KRT5 121 NM_000424.4:c.1394T>A NP_000415.2:p.Val465Glu 96328119 MODERATE _rod_domain&Intermediate_filament Medium Disease Causing Probably Damaging 590 465 NM_000424.4 True 0.779 True Damaging KRT5 ['MANE Select'] NM_000424 NM_000424.4 1077494 36350117 11
datafile_210_1 nswhp/randwick_lab datafile_210_1 NM_001972.2(ELANE):c.661G>T variant-annotated 0.0 0.0 0.02 0.0
datafile_217_2 nswhp/randwick_lab datafile_217_2 NM_004924.5(ACTN4):c.464T>C variant-annotated 0.0 0.0 0.01 0.0
datafile_217_1 nswhp/randwick_lab datafile_217_1 NM_004924.5(ACTN4):c.464T>C variant-annotated 0.0 0.0 0.01 0.0
datafile_211_1 nswhp/randwick_lab datafile_211_1 NM_000094.3(COL7A1):c.8138G>A transcript-annotated 0.01 0.01 0.0 0.0 G/D 1395 25.9 1 gGc/gAc missense_variant NP_000085.1 110/118 Damaging 1294 1294 COL7A1 4.59 gene symbol 0.50 (0.43 - 0.59) https://gnomad.broadinstitute.org/gene/COL7A1 94 NM_000094.3:c.8138G>A NP_000085.1:p.Gly2713Asp 96327851 MODERATE High Disease Causing Probably Damaging 2944 2713 NM_000094.3 False 0.906 False Damaging COL7A1 ['RefSeq Select'] NM_000094 NM_000094.3 993209 36350202 11
datafile_230_1 nswhp/randwick_lab datafile_230_1 NM_003688.3(CASK):c.356+1G>C transcript-annotated 0.0 0.0 0.0 1.0 1395 0 splice_donor_variant NP_003679.2 8573 8573 CASK gene symbol 0.00 (0.00 - 0.07) https://gnomad.broadinstitute.org/gene/CASK NM_003688.3:c.356+1G>C 96328402 HIGH 4/26 1.529 8.273 84.4011426239543 9.802 921 NM_003688.3 False False CASK [] NM_003688 NM_003688.3 1051399 36350245 11
datafile_213_1 nswhp/randwick_lab datafile_213_1 NM_152274.4(CCNQ):c.657G>T variant-annotated 0.0 0.0 0.09 0.93
datafile_262_1 nswhp/randwick_lab datafile_262_1 NM_015506.2(MMACHC):c.271dupA variant-annotated
datafile_261_1 nswhp/randwick_lab datafile_261_1 NM_002016.1(FLG):c.3321delA variant-annotated
datafile_237_1 nswhp/randwick_lab datafile_237_1 NM_000094.3(COL7A1):c.6900+4A>G transcript-annotated 0.06 0.0 0.02 0.58 1354 1 splice_region_variant&intron_variant NP_000085.1 1294 1294 COL7A1 gene symbol 0.50 (0.43 - 0.59) https://gnomad.broadinstitute.org/gene/COL7A1 NM_000094.3:c.6900+4A>G 91126685 LOW 87/117 1.07 3.215 75.0291715285881 4.285 2944 NM_000094.3 True True splice_donor_region_variant COL7A1 ['RefSeq Select'] NM_000094 NM_000094.3 993209 33692277 11
datafile_245_1 nswhp/randwick_lab datafile_245_1 NM_003060.3(SLC22A5):c.760C>T variant-annotated
datafile_243_1 nswhp/randwick_lab datafile_243_1 NM_000500.7(CYP21A2):c.1360C>T variant-annotated
datafile_266_1 nswhp/randwick_lab datafile_266_1 NM_001029882.3(AHDC1):c.4321C>T transcript-annotated Q/* 1395 43.0 0 Cag/Tag stop_gained NP_001025053.1 6/7 27245 27245 AHDC1 5.37 gene symbol 0.00 (0.00 - 0.08) https://gnomad.broadinstitute.org/gene/AHDC1 NM_001029882.3:c.4321C>T NP_001025053.1:p.Gln1441Ter 96327715 HIGH Disease causing (automatic) 1603 1441 NM_001029882.3 True False AHDC1 [] NM_001029882 NM_001029882.3 981862 36350077 11
datafile_239_1 nswhp/randwick_lab datafile_239_1 NM_001100.3(ACTA1):c.834G>T variant-annotated 0.16 0.0 0.0 0.0
datafile_246_1 nswhp/randwick_lab datafile_246_1 NM_015531.5(C2CD3):c.2074G>T variant-annotated 0.0 0.01 0.33 0.01
datafile_244_1 nswhp/randwick_lab datafile_244_1 NM_003850.3(SUCLA2):c.851G>A variant-annotated 0.27 0.03 0.0 0.0
datafile_248_1 nswhp/randwick_lab datafile_248_1 NM_003709.3(KLF7):c.410C>T variant-annotated
datafile_264_1 nswhp/randwick_lab datafile_264_1 NM_001168272.1(ITPR1):c.1655A>G transcript-annotated Y/C 1395 32.0 0 tAc/tGc missense_variant NP_001161744.1 16/61 Damaging 3708 3708 ITPR1 4.56 gene symbol 0.08 (0.05 - 0.13) https://gnomad.broadinstitute.org/gene/ITPR1 194 NM_001168272.1:c.1655A>G NP_001161744.1:p.Tyr552Cys 96327836 MODERATE RIH_domain Medium Disease Causing Probably Damaging 2743 552 NM_001168272.1 False 0.884 False Damaging ITPR1 [] NM_001168272 NM_001168272.1 992063 36350197 11
datafile_242_1 nswhp/randwick_lab datafile_242_1 NM_004387.3(NKX2-5):c.734T>C variant-annotated
datafile_235_1 nswhp/randwick_lab datafile_235_1 NM_002764.3(PRPS1):c.491A>G variant-annotated 0.0 0.0 0.0 0.01
datafile_289_1 nswhp/randwick_lab datafile_289_1 NM_007327.3(GRIN1):c.2443G>A variant-annotated 0.0 0.0 0.27 0.27
datafile_285_1 nswhp/randwick_lab datafile_285_1 NM_002074.5(GNB1):c.239T>C transcript-annotated I/T 1353 26.8 True 2 aTc/aCc missense_variant NP_002065.1 6/12 Tolerated 2782 2782 GNB1 4.53 gene symbol 0.00 (0.00 - 0.14) https://gnomad.broadinstitute.org/gene/GNB1 89 NM_002074.5:c.239T>C NP_002065.1:p.Ile80Thr 90690465 MODERATE _beta_subunit&_conserved_site&WD40_repeat&WD40-repeat-containing_domain&G-protein Medium Disease Causing Probably Damaging 340 80 NM_002074.5 True 0.515 True Damaging GNB1 ['MANE Select'] NM_002074 NM_002074.5 1098381 33557274 11
datafile_286_1 nswhp/randwick_lab datafile_286_1 NM_014795.3(ZEB2):c.2083C>T variant-annotated
datafile_282_1 nswhp/randwick_lab datafile_282_1 NM_002880.3(RAF1):c.788T>A transcript-annotated V/D 1354 28.3 0 gTc/gAc missense_variant NP_002871.1 7/17 Tolerated 5894 5894 RAF1 5.73 gene symbol 0.19 (0.11 - 0.35) https://gnomad.broadinstitute.org/gene/RAF1 152 NM_002880.3:c.788T>A NP_002871.1:p.Val263Asp 90997733 MODERATE Medium Disease Causing Probably Damaging 648 263 NM_002880.3 False 0.675 False Damaging RAF1 [] NM_002880 NM_002880.3 992303 33666950 11
datafile_290_1 nswhp/randwick_lab datafile_290_1 NM_002880.3(RAF1):c.788T>A transcript-annotated V/D 1354 28.3 0 gTc/gAc missense_variant NP_002871.1 7/17 Tolerated 5894 5894 RAF1 5.73 gene symbol 0.19 (0.11 - 0.35) https://gnomad.broadinstitute.org/gene/RAF1 152 NM_002880.3:c.788T>A NP_002871.1:p.Val263Asp 90997733 MODERATE Medium Disease Causing Probably Damaging 648 263 NM_002880.3 False 0.675 False Damaging RAF1 [] NM_002880 NM_002880.3 992303 33666950 11
datafile_291_1 nswhp/randwick_lab datafile_291_1 NM_002880.3(RAF1):c.788T>A transcript-annotated V/D 1354 28.3 0 gTc/gAc missense_variant NP_002871.1 7/17 Tolerated 5894 5894 RAF1 5.73 gene symbol 0.19 (0.11 - 0.35) https://gnomad.broadinstitute.org/gene/RAF1 152 NM_002880.3:c.788T>A NP_002871.1:p.Val263Asp 90997733 MODERATE Medium Disease Causing Probably Damaging 648 263 NM_002880.3 False 0.675 False Damaging RAF1 [] NM_002880 NM_002880.3 992303 33666950 11
datafile_279_1 nswhp/randwick_lab datafile_279_1 NM_024570.3(RNASEH2B):c.529G>A variant-annotated
datafile_274_1 nswhp/randwick_lab datafile_274_1 NM_000814.5(GABRB3):c.358G>A variant-annotated
datafile_269_1 nswhp/randwick_lab datafile_269_1 NM_004992.3(MECP2):c.473C>T transcript-annotated 0.0 0.0 0.04 0.0 T/M 1348 27.2 0 aCg/aTg missense_variant NP_004983.1 4/4 Damaging 4204 4204 MECP2 5.48 gene symbol 0.09 (0.03 - 0.41) https://gnomad.broadinstitute.org/gene/MECP2 81 NM_004992.3:c.473C>T NP_004983.1:p.Thr158Met 89586818 MODERATE Methyl-CpG_DNA_binding Low Disease causing (automatic) Probably Damaging 486 158 NM_004992.3 False 0.945 False Damaging MECP2 [] NM_004992 NM_004992.3 1053214 33121418 11
datafile_272_1 nswhp/randwick_lab datafile_272_1 NM_025160.6(WDR26):c.1289G>A transcript-annotated 0.0 0.0 0.0 0.25 W/* 1395 39.0 1 tGg/tAg stop_gained NP_079436.4 8/14 80232 80232 WDR26 4.65 gene symbol 0.00 (0.00 - 0.09) https://gnomad.broadinstitute.org/gene/WDR26 NM_025160.6:c.1289G>A NP_079436.4:p.Trp430Ter 96327747 HIGH WD40-repeat-containing_domain Disease causing (automatic) 661 430 NM_025160.6 True True WDR26 ['RefSeq Select'] NM_025160 NM_025160.6 986773 36350090 11
datafile_277_1 nswhp/randwick_lab datafile_277_1 NM_005343.2(HRAS):c.466T>C variant-annotated
datafile_267_1 nswhp/randwick_lab datafile_267_1 NM_001197104.1(KMT2A):c.3569+2T>G variant-annotated 0.0 0.0 0.41 0.99
datafile_287_1 nswhp/randwick_lab datafile_287_1 NM_012062.4(DNM1L):c.1112A>C variant-annotated 0.0 0.01 0.0 0.0
datafile_281_1 nswhp/randwick_lab datafile_281_1 ENST00000375820.8(COL4A1):c.2096-2A>C variant-annotated 0.42 1.0 0.0 0.0
datafile_270_1 nswhp/randwick_lab datafile_270_1 NM_001170629.1(CHD8):c.2024+1G>C variant-annotated 0.0 0.0 0.38 0.98
datafile_275_1 nswhp/randwick_lab datafile_275_1 ENST00000304546.5(ECEL1):c.1864G>A variant-annotated 0.0 0.0 0.31 0.15
datafile_283_2 nswhp/randwick_lab datafile_283_2 NM_152393.3(KLHL40):c.1250T>A variant-annotated 0.01 0.02 0.0 0.0
datafile_283_1 nswhp/randwick_lab datafile_283_1 NM_152393.3(KLHL40):c.1250T>A variant-annotated 0.01 0.02 0.0 0.0
datafile_273_1 nswhp/randwick_lab datafile_273_1 NM_005629.3(SLC6A8):c.1334T>A variant-annotated 0.06 0.0 0.01 0.0
datafile_224_1 nswhp/randwick_lab datafile_224_1 NM_001256789.3(CACNA1F):c.1874C>A transcript-annotated 0.0 0.0 0.07 0.0 T/N 1395 24.3 2 aCc/aAc missense_variant NP_001243718.1 14/48 Damaging 778 778 CACNA1F 3.39 gene symbol 0.32 (0.23 - 0.45) https://gnomad.broadinstitute.org/gene/CACNA1F 65 NM_001256789.3:c.1874C>A NP_001243718.1:p.Thr625Asn 96328408 MODERATE Ion_transport_domain Medium Disease Causing Probably Damaging 1966 625 NM_001256789.3 False 0.855 True Damaging CACNA1F ['MANE Select'] NM_001256789 NM_001256789.3 1092795 36350248 11
datafile_233_1 nswhp/randwick_lab datafile_233_1 NM_001015877.2(PHF6):c.676G>A transcript-annotated 0.03 0.0 0.0 0.0 G/R 1395 28.1 2 Gga/Aga missense_variant NP_001015877.1 7/11 Damaging 84295 84295 PHF6 4.71 gene symbol 0.00 (0.00 - 0.17) https://gnomad.broadinstitute.org/gene/PHF6 125 NM_001015877.2:c.676G>A NP_001015877.1:p.Gly226Arg 96328446 MODERATE Extended_PHD_(ePHD)_domain Low Disease Causing Probably Damaging 365 226 NM_001015877.2 False 0.735 True Damaging PHF6 ['MANE Select'] NM_001015877 NM_001015877.2 1091319 36350259 11
datafile_265_1 nswhp/randwick_lab datafile_265_1 NM_001128844.3(SMARCA4):c.1351C>T transcript-annotated R/C 1351 32.0 0 Cgc/Tgc missense_variant NP_001122316.1 9/36 Tolerated 6597 6597 SMARCA4 3.75 gene symbol 0.01 (0.00 - 0.06) https://gnomad.broadinstitute.org/gene/SMARCA4 180 NM_001128844.3:c.1351C>T NP_001122316.1:p.Arg451Cys 90446773 MODERATE Medium Disease Causing Probably Damaging 1647 451 NM_001128844.3 False 0.397 False Damaging SMARCA4 [] NM_001128844 NM_001128844.3 1339422 33426213 11
datafile_157_1 nswhp/randwick_lab datafile_157_1 NM_001008537.2(NEXMIF):c.2999_3000delCT variant-annotated
vc2397 sa_pathology/familial_cancer_frome_rd vc2397 NM_000130.5(F5):c.1601G>A transcript-annotated R/Q 1354 25.1 True 2 cGa/cAa missense_variant NP_000121.2 10/25 2153 2153 F5 gene symbol 0.43 (0.34 - 0.56) https://gnomad.broadinstitute.org/gene/F5 43 NM_000130.5:c.1601G>A NP_000121.2:p.Arg534Gln 90921257 MODERATE 2224 534 NM_000130.5 True True Damaging F5 ['MANE Select'] NM_000130 NM_000130.5 1335538 33631144 11
datafile_155_1 nswhp/randwick_lab datafile_155_1 NM_000259.3(MYO5A):c.2315G>A transcript-annotated 0.02 0.0 0.0 0.0 R/Q 1376 23.6 True 0 cGg/cAg missense_variant NP_000250.3 19/41 Tolerated 4644 4644 MYO5A 4.74 gene symbol 0.21 (0.15 - 0.29) https://gnomad.broadinstitute.org/gene/MYO5A 43 NM_000259.3:c.2315G>A NP_000250.3:p.Arg772Gln 94218612 MODERATE _EF-hand_binding_site&IQ_motif Low Disease Causing Possibly Damaging 1855 772 NM_000259.3 True 0.121 True Tolerated MYO5A [] NM_000259 NM_000259.3 1032139 35796436 11
vc2399 sa_pathology/familial_cancer_frome_rd vc2399 NM_003482.3(KMT2D):c.6040C>T transcript-annotated 0.0 0.02 0.0 0.0 Q/* 1348 39.0 1 Cag/Tag stop_gained NP_003473.3 28/54 8085 8085 KMT2D 5.34 gene symbol 0.07 (0.04 - 0.10) https://gnomad.broadinstitute.org/gene/KMT2D NM_003482.3:c.6040C>T NP_003473.3:p.Gln2014Ter 89410871 HIGH High_mobility_group_box_domain Disease causing (automatic) 5537 2014 NM_003482.3 True True KMT2D ['RefSeq Select'] NM_003482 NM_003482.3 1024959 33032848 11
test_1631152652 fake_org/fake_lab test_1631152652 NM_015120.4(ALMS1):c.4156dupA transcript-annotated -/X 1351 True 0 -/A frameshift_variant NP_055935.4 8/23 7840 7840 ALMS1 gene symbol 0.75 (0.64 - 0.87) https://gnomad.broadinstitute.org/gene/ALMS1 NM_015120.4:c.4156dup NP_055935.4:p.Thr1386AsnfsTer15 90363573 HIGH 4168 1385-1386 NM_015120.4 True True ALMS1 [] NM_015120 NM_015120.4 988791 33385610 11
datafile_120_1 nswhp/randwick_lab datafile_120_1 NM_001257291.1(SLC9A7):c.2135C>T variant-annotated
datafile_288_1 nswhp/randwick_lab datafile_288_1 NM_176787.4(PIGN):c.923-6T>G variant-annotated 0.35 0.53 0.0 0.2
datafile_12_2 nswhp/randwick_lab datafile_12_2 NM_205768.3(ZBTB18):c.143G= matched-but-no-annotations
datafile_254_1 nswhp/randwick_lab datafile_254_1 NM_001037343.1(CDKL5):c.654_656dupCCA transcript-annotated D/DH 1396 0 gac/gACCac inframe_insertion NP_001032420.1 10/22 6792 6792 CDKL5 gene symbol 0.09 (0.04 - 0.23) https://gnomad.broadinstitute.org/gene/CDKL5 NM_001037343.1:c.654_656dup NP_001032420.1:p.Asp218_Gln219insHis 96326941 MODERATE 1030 218 NM_001037343.1 False False CDKL5 [] NM_001037343 NM_001037343.1 1051191 36350266 11
datafile_141_1 nswhp/randwick_lab datafile_141_1 NM_000301.3(PLG):c.112A>G variant-annotated
datafile_141_2 nswhp/randwick_lab datafile_141_2 NM_000301.3(PLG):c.1469G>A variant-annotated 0.0 0.08 0.0 0.0
datafile_154_2 nswhp/randwick_lab datafile_154_2 NM_000293.2(PHKB):c.500A>G variant-annotated
datafile_19_2 nswhp/randwick_lab datafile_19_2 NM_000334.4(SCN4A):c.1354G>A transcript-annotated E/K 1342 23.3 True 2 Gag/Aag missense_variant NP_000325.4 9/24 Damaging 6329 6329 SCN4A 4.9 gene symbol 0.26 (0.18 - 0.38) https://gnomad.broadinstitute.org/gene/SCN4A 56 NM_000334.4:c.1354G>A NP_000325.4:p.Glu452Lys 88357466 MODERATE Ion_transport_domain Medium Disease Causing Probably Damaging 1836 452 NM_000334.4 True 0.867 True Damaging SCN4A ['MANE Select'] NM_000334 NM_000334.4 1039278 32458572 11
datafile_168_1 nswhp/randwick_lab datafile_168_1 NM_007373.3(SHOC2):c.4A>G variant-annotated
datafile_196_3 nswhp/randwick_lab datafile_196_3 NM_005609.2(PYGM):c.660G>A variant-annotated 0.0 0.0 0.65 0.05
datafile_196_2 nswhp/randwick_lab datafile_196_2 NM_005609.2(PYGM):c.660G>A variant-annotated 0.0 0.0 0.65 0.05
datafile_196_1 nswhp/randwick_lab datafile_196_1 NM_005609.2(PYGM):c.660G>A variant-annotated 0.0 0.0 0.65 0.05
datafile_196_4 nswhp/randwick_lab datafile_196_4 NM_005609.2(PYGM):c.660G>A variant-annotated 0.0 0.0 0.65 0.05
datafile_195_1 nswhp/randwick_lab datafile_195_1 NM_007103.3(NDUFV1):c.1312C>A variant-annotated 0.01 0.02 0.0 0.0
datafile_195_2 nswhp/randwick_lab datafile_195_2 NM_007103.3(NDUFV1):c.1312C>A variant-annotated 0.01 0.02 0.0 0.0
datafile_195_4 nswhp/randwick_lab datafile_195_4 NM_007103.3(NDUFV1):c.1312C>A variant-annotated 0.01 0.02 0.0 0.0
datafile_195_3 nswhp/randwick_lab datafile_195_3 NM_007103.3(NDUFV1):c.1312C>A variant-annotated 0.01 0.02 0.0 0.0
datafile_55_1 nswhp/randwick_lab datafile_55_1 NM_000237.2(LPL):c.662T>C variant-annotated
datafile_135_1 nswhp/randwick_lab datafile_135_1 NM_001693.3(ATP6V1B2):c.1516C>T variant-annotated
datafile_71_2 nswhp/randwick_lab datafile_71_2 NM_201380.3(PLEC):c.4910G>A variant-annotated
datafile_183_1 nswhp/randwick_lab datafile_183_1 NM_001172292.1(NIPAL4):c.470C>A transcript-annotated 0.0 0.03 0.0 0.0 A/D 1346 24.3 0 gCt/gAt missense_variant NP_001165763.1 3/5 Damaging 348938 348938 NIPAL4 3.86 gene symbol 0.47 (0.27 - 0.88) https://gnomad.broadinstitute.org/gene/NIPAL4 126 NM_001172292.1:c.470C>A NP_001165763.1:p.Ala157Asp 89321025 MODERATE Medium Disease causing (automatic) Possibly Damaging 447 157 NM_001172292.1 False 0.771 False Damaging NIPAL4 [] NM_001172292 NM_001172292.1 1001126 32860210 11
datafile_166_1 nswhp/randwick_lab datafile_166_1 NM_138694.3(PKHD1):c.6992T>A variant-annotated 0.0 0.0 0.06 0.0
datafile_166_2 nswhp/randwick_lab datafile_166_2 NM_138694.3(PKHD1):c.5912G>A variant-annotated
datafile_85_1 nswhp/randwick_lab datafile_85_1 NM_001271208.1(NEB):c.18115G>A variant-annotated
datafile_4_1 nswhp/randwick_lab datafile_4_1 NM_002185.3(IL7R):c.2T>G variant-annotated 0.01 0.01 0.0 0.0
datafile_236_2 nswhp/randwick_lab datafile_236_2 NM_005629.4(SLC6A8):c.1411C>T transcript-annotated 0.0 0.05 0.0 0.0 Q/* 1348 42.0 True 2 Cag/Tag stop_gained NP_005620.1 10/13 6535 6535 SLC6A8 4.57 gene symbol 0.04 (0.01 - 0.21) https://gnomad.broadinstitute.org/gene/SLC6A8 NM_005629.4:c.1411C>T NP_005620.1:p.Gln471Ter 89576754 HIGH Disease causing (automatic) 635 471 NM_005629.4 True True SLC6A8 ['MANE Select'] NM_005629 NM_005629.4 1063314 33117148 11
datafile_236_1 nswhp/randwick_lab datafile_236_1 NM_005629.4(SLC6A8):c.1411C>T transcript-annotated 0.0 0.05 0.0 0.0 Q/* 1348 42.0 True 2 Cag/Tag stop_gained NP_005620.1 10/13 6535 6535 SLC6A8 4.57 gene symbol 0.04 (0.01 - 0.21) https://gnomad.broadinstitute.org/gene/SLC6A8 NM_005629.4:c.1411C>T NP_005620.1:p.Gln471Ter 89576754 HIGH Disease causing (automatic) 635 471 NM_005629.4 True True SLC6A8 ['MANE Select'] NM_005629 NM_005629.4 1063314 33117148 11
datafile_25_1 nswhp/randwick_lab datafile_25_1 NM_014844.4(TECPR2):c.1319delT variant-annotated
datafile_25_2 nswhp/randwick_lab datafile_25_2 NM_014844.4(TECPR2):c.1319delT variant-annotated
datafile_179_1 nswhp/randwick_lab datafile_179_1 NM_000057.3(BLM):c.2695C>T variant-annotated 0.16 0.34 0.01 0.0
datafile_179_2 nswhp/randwick_lab datafile_179_2 NM_000057.3(BLM):c.3013_3019+4del variant-annotated
datafile_197_4 nswhp/randwick_lab datafile_197_4 NM_001089.2(ABCA3):c.5038G>A variant-annotated
datafile_197_1 nswhp/randwick_lab datafile_197_1 NM_001089.2(ABCA3):c.5038G>A variant-annotated
datafile_197_3 nswhp/randwick_lab datafile_197_3 NM_001089.2(ABCA3):c.5038G>A variant-annotated
datafile_197_2 nswhp/randwick_lab datafile_197_2 NM_001089.2(ABCA3):c.5038G>A variant-annotated
datafile_198_4 nswhp/randwick_lab datafile_198_4 NM_001089.2(ABCA3):c.1687G>A variant-annotated
datafile_198_3 nswhp/randwick_lab datafile_198_3 NM_001089.2(ABCA3):c.1687G>A variant-annotated
datafile_198_2 nswhp/randwick_lab datafile_198_2 NM_001089.2(ABCA3):c.1687G>A variant-annotated
datafile_198_1 nswhp/randwick_lab datafile_198_1 NM_001089.2(ABCA3):c.1687G>A variant-annotated
datafile_158_1 nswhp/randwick_lab datafile_158_1 NM_005633.3(SOS1):c.1132A>G transcript-annotated 0.0 0.0 0.01 0.0 T/A 1351 21.6 True 1 Aca/Gca missense_variant NP_005624.2 9/23 Tolerated 6654 6654 SOS1 5.86 gene symbol 0.07 (0.03 - 0.14) https://gnomad.broadinstitute.org/gene/SOS1 58 NM_005633.3:c.1132A>G NP_005624.2:p.Thr378Ala 90278809 MODERATE Dbl_homology_(DH)_domain Medium Disease Causing Benign 1333 378 NM_005633.3 True 0.247 True Tolerated SOS1 ['RefSeq Select'] NM_005633 NM_005633.3 988147 33355942 11
datafile_259_1 nswhp/randwick_lab datafile_259_1 NM_005932.3(MIPEP):c.1534C>G variant-annotated 0.0 0.0 0.01 0.0
datafile_258_1 nswhp/randwick_lab datafile_258_1 NM_005932.3(MIPEP):c.1534C>G variant-annotated 0.0 0.0 0.01 0.0
datafile_151_2 nswhp/randwick_lab datafile_151_2 NM_000053.3(ATP7B):c.2930C>T variant-annotated 0.0 0.01 0.0 0.0
datafile_151_1 nswhp/randwick_lab datafile_151_1 NM_000053.3(ATP7B):c.2165dupT variant-annotated 0.11 0.08 0.0 0.04
datafile_44_2 nswhp/randwick_lab datafile_44_2 NM_024537.3(CARS2):c.269A>G variant-annotated 0.0 0.01 0.0 0.0
datafile_99_2 nswhp/randwick_lab datafile_99_2 NM_000257.3(MYH7):c.2681A>G variant-annotated
datafile_186_2 nswhp/randwick_lab datafile_186_2 NM_000359.2(TGM1):c.1186C>T variant-annotated 0.01 0.0 0.0 0.0
datafile_186_1 nswhp/randwick_lab datafile_186_1 NM_000359.2(TGM1):c.420A>G variant-annotated 0.0 0.0 0.05 0.0
datafile_181_2 nswhp/randwick_lab datafile_181_2 NM_000271.4(NPC1):c.3493G>A variant-annotated 0.02 0.0 0.0 0.05
datafile_191_1 nswhp/randwick_lab datafile_191_1 NM_000227.4(LAMA3):c.151dupG variant-annotated 0.0 0.0 0.0 0.01
datafile_212_1 nswhp/randwick_lab datafile_212_1 NM_003680.3(YARS1):c.176T>C transcript-annotated 0.0 0.0 0.01 0.0 I/T 1353 26.4 1 aTt/aCt missense_variant NP_003671.1 2/13 Tolerated 8565 8565 YARS 5.41 89 NM_003680.3:c.176T>C NP_003671.1:p.Ile59Thr 90729840 MODERATE Medium Disease Causing Probably Damaging 528 59 NM_003680.3 True 0.667 True Damaging YARS ['RefSeq Select'] NM_003680 NM_003680.3 982096 33580742 11
datafile_169_2 nswhp/randwick_lab datafile_169_2 NM_018297.3(NGLY1):c.1405C>T variant-annotated 0.0 0.0 0.0 0.1
datafile_83_1 nswhp/randwick_lab datafile_83_1 NM_015340.3(LARS2):c.388G>A variant-annotated
datafile_83_2 nswhp/randwick_lab datafile_83_2 NM_015340.3(LARS2):c.2099C>T variant-annotated 0.02 0.0 0.0 0.0
datafile_226_2 nswhp/randwick_lab datafile_226_2 NM_000094.3(COL7A1):c.7787delG transcript-annotated G/X 1354 1 gGt/gt frameshift_variant NP_000085.1 104/118 1294 1294 COL7A1 gene symbol 0.50 (0.43 - 0.59) https://gnomad.broadinstitute.org/gene/COL7A1 NM_000094.3:c.7787del NP_000085.1:p.Gly2596ValfsTer35 91126607 HIGH 2944 2596 NM_000094.3 False False COL7A1 ['RefSeq Select'] NM_000094 NM_000094.3 993209 33692132 11
datafile_207_1 nswhp/randwick_lab datafile_207_1 NM_000094.3(COL7A1):c.4373C>T transcript-annotated 0.0 0.0 0.0 0.01 P/L 1354 25.7 1 cCa/cTa missense_variant NP_000085.1 40/118 Damaging 1294 1294 COL7A1 5.37 gene symbol 0.50 (0.43 - 0.59) https://gnomad.broadinstitute.org/gene/COL7A1 98 NM_000094.3:c.4373C>T NP_000085.1:p.Pro1458Leu 91127212 MODERATE Medium Disease Causing Probably Damaging 2944 1458 NM_000094.3 False 0.81 True Damaging COL7A1 ['RefSeq Select'] NM_000094 NM_000094.3 993209 33692835 11
datafile_226_1 nswhp/randwick_lab datafile_226_1 NM_000094.3(COL7A1):c.2005C>T transcript-annotated 0.0 0.0 0.21 0.05 R/* 1354 29.2 1 Cga/Tga stop_gained NP_000085.1 15/118 1294 1294 COL7A1 2.7 gene symbol 0.50 (0.43 - 0.59) https://gnomad.broadinstitute.org/gene/COL7A1 NM_000094.3:c.2005C>T NP_000085.1:p.Arg669Ter 91127408 HIGH Fibronectin_type_III Disease causing (automatic) 2944 669 NM_000094.3 True True COL7A1 ['RefSeq Select'] NM_000094 NM_000094.3 993209 33693210 11
datafile_164_1 nswhp/randwick_lab datafile_164_1 NM_013334.3(GMPPB):c.1081G>A transcript-annotated 0.0 0.02 0.01 0.0 D/N 1354 26.1 0 Gat/Aat missense_variant NP_037466.2 8/8 Tolerated 29925 29925 GMPPB 5.14 gene symbol 0.67 (0.43 - 1.09) https://gnomad.broadinstitute.org/gene/GMPPB 23 NM_013334.3:c.1081G>A NP_037466.2:p.Asp361Asn 91140106 MODERATE Medium Disease Causing Possibly Damaging 387 361 NM_013334.3 False 0.474 False Damaging GMPPB [] NM_013334 NM_013334.3 993368 33696283 11
datafile_164_2 nswhp/randwick_lab datafile_164_2 NM_013334.3(GMPPB):c.859C>T transcript-annotated 0.0 0.0 0.06 0.0 R/W 1354 25.9 0 Cgg/Tgg missense_variant NP_037466.2 8/8 Tolerated 29925 29925 GMPPB 4.55 gene symbol 0.67 (0.43 - 1.09) https://gnomad.broadinstitute.org/gene/GMPPB 101 NM_013334.3:c.859C>T NP_037466.2:p.Arg287Trp 91140306 MODERATE Low Disease Causing Possibly Damaging 387 287 NM_013334.3 False 0.547 False Damaging GMPPB [] NM_013334 NM_013334.3 993368 33696331 11
datafile_255_1 nswhp/randwick_lab datafile_255_1 NM_000666.2(ACY1):c.575dupG variant-annotated 0.0 0.04 0.0 0.09
datafile_255_2 nswhp/randwick_lab datafile_255_2 NM_000666.2(ACY1):c.1057C>T variant-annotated
datafile_206_1 nswhp/randwick_lab datafile_206_1 NM_001009944.2(PKD1):c.11988_11996delCCTGCTTTT variant-annotated
datafile_223_1 nswhp/randwick_lab datafile_223_1 NM_001694.3(ATP6V0C):c.296_307del variant-annotated
datafile_223_2 nswhp/randwick_lab datafile_223_2 NM_001694.3(ATP6V0C):c.296_307del variant-annotated
datafile_190_1 nswhp/randwick_lab datafile_190_1 NM_001195563.2(CAMTA1):c.*245T>A transcript-annotated 1395 0 3_prime_UTR_variant NP_001182492.1 4/4 23261 23261 CAMTA1 gene symbol 0.09 (0.05 - 0.17) https://gnomad.broadinstitute.org/gene/CAMTA1 NM_001195563.2:c.*245T>A 96327701 MODIFIER 80 NM_001195563.2 False False CAMTA1 [] NM_001195563 NM_001195563.2 1067894 36350075 11
datafile_271_1 nswhp/randwick_lab datafile_271_1 NM_001029882.3(AHDC1):c.1025_1044del transcript-annotated DVPGRRL/X 1395 0 gACGTCCCAGGTCGCCGTCTG/g frameshift_variant NP_001025053.1 6/7 27245 27245 AHDC1 gene symbol 0.00 (0.00 - 0.08) https://gnomad.broadinstitute.org/gene/AHDC1 NM_001029882.3:c.1025_1044del NP_001025053.1:p.Asp342GlyfsTer29 96327719 HIGH 1603 342-348 NM_001029882.3 True False AHDC1 [] NM_001029882 NM_001029882.3 981862 36350079 11
datafile_212_2 nswhp/randwick_lab datafile_212_2 NM_003680.3(YARS1):c.290A>G transcript-annotated Y/C 1395 29.0 1 tAt/tGt missense_variant NP_003671.1 3/13 Tolerated 8565 8565 YARS 5.51 194 NM_003680.3:c.290A>G NP_003671.1:p.Tyr97Cys 96327721 MODERATE Medium Disease Causing Probably Damaging 528 97 NM_003680.3 True 0.889 True Damaging YARS ['RefSeq Select'] NM_003680 NM_003680.3 982096 36350080 11
datafile_105_1 nswhp/randwick_lab datafile_105_1 NM_020699.3(GATAD2B):c.698G>T variant-annotated
datafile_284_1 nswhp/randwick_lab datafile_284_1 NM_000702.3(ATP1A2):c.1091C>G variant-annotated
test_16729688759 fake_org/fake_lab test_16729688759 NM_206933.2(USH2A):c.4298G>A variant-annotated 0.07 0.0 0.0 0.0
test_16729688755 fake_org/fake_lab test_16729688755 NM_206933.2(USH2A):c.4298G>A variant-annotated 0.07 0.0 0.0 0.0
datafile_201_1 nswhp/randwick_lab datafile_201_1 NM_206933.2(USH2A):c.4298G>A variant-annotated 0.07 0.0 0.0 0.0
vc2842 vcgs/test vc2842 NM_206933.3(USH2A):c.4298G>A transcript-annotated 0.07 0.0 0.0 0.0 G/E 1395 21.6 True 1 gGa/gAa missense_variant NP_996816.2 20/72 Tolerated 7399 7399 USH2A 3.43 gene symbol 0.76 (0.67 - 0.86) https://gnomad.broadinstitute.org/gene/USH2A 98 NM_206933.3:c.4298G>A NP_996816.2:p.Gly1433Glu 96327745 MODERATE Fibronectin_type_III Low Disease Causing Possibly Damaging 5202 1433 NM_206933.3 True 0.207 True Tolerated USH2A ['RefSeq Select'] NM_206933 NM_206933.3 1100982 36350089 11
vc2843 vcgs/test vc2843 NM_206933.3(USH2A):c.4298G>A transcript-annotated 0.07 0.0 0.0 0.0 G/E 1395 21.6 True 1 gGa/gAa missense_variant NP_996816.2 20/72 Tolerated 7399 7399 USH2A 3.43 gene symbol 0.76 (0.67 - 0.86) https://gnomad.broadinstitute.org/gene/USH2A 98 NM_206933.3:c.4298G>A NP_996816.2:p.Gly1433Glu 96327745 MODERATE Fibronectin_type_III Low Disease Causing Possibly Damaging 5202 1433 NM_206933.3 True 0.207 True Tolerated USH2A ['RefSeq Select'] NM_206933 NM_206933.3 1100982 36350089 11
vc2839 vcgs/test vc2839 NM_206933.3(USH2A):c.4298G>A transcript-annotated 0.07 0.0 0.0 0.0 G/E 1395 21.6 True 1 gGa/gAa missense_variant NP_996816.2 20/72 Tolerated 7399 7399 USH2A 3.43 gene symbol 0.76 (0.67 - 0.86) https://gnomad.broadinstitute.org/gene/USH2A 98 NM_206933.3:c.4298G>A NP_996816.2:p.Gly1433Glu 96327745 MODERATE Fibronectin_type_III Low Disease Causing Possibly Damaging 5202 1433 NM_206933.3 True 0.207 True Tolerated USH2A ['RefSeq Select'] NM_206933 NM_206933.3 1100982 36350089 11
datafile_150_1 nswhp/randwick_lab datafile_150_1 NM_018706.6(DHTKD1):c.1826T>A variant-annotated
datafile_160_1 nswhp/randwick_lab datafile_160_1 NM_020975.4(RET):c.1273delG variant-annotated
datafile_8_2 nswhp/randwick_lab datafile_8_2 NM_003282.3(TNNI2):c.512T>G variant-annotated
datafile_8_1 nswhp/randwick_lab datafile_8_1 NM_003282.3(TNNI2):c.512T>G variant-annotated
datafile_247_1 nswhp/randwick_lab datafile_247_1 NM_015531.5(C2CD3):c.5882-2A>G variant-annotated 0.0 0.73 0.0 0.0
datafile_34_1 nswhp/randwick_lab datafile_34_1 NM_001197104.2(KMT2A):c.2452A>T transcript-annotated 0.0 0.01 0.0 0.0 K/* 1395 37.0 True 2 Aag/Tag stop_gained NP_001184033.1 3/36 4297 4297 KMT2A 5.64 gene symbol 0.03 (0.01 - 0.07) https://gnomad.broadinstitute.org/gene/KMT2A NM_001197104.2:c.2452A>T NP_001184033.1:p.Lys818Ter 96328052 HIGH Disease causing (automatic) 3972 818 NM_001197104.2 True True KMT2A ['MANE Select'] NM_001197104 NM_001197104.2 1338704 36350104 11
datafile_91_1 nswhp/randwick_lab datafile_91_1 NM_001197104.1(KMT2A):c.2596_2597delAA variant-annotated
datafile_249_1 nswhp/randwick_lab datafile_249_1 NM_001197104.1(KMT2A):c.10788delA variant-annotated 0.0 0.15 0.0 0.11
datafile_149_2 nswhp/randwick_lab datafile_149_2 NM_000834.3(GRIN2B):c.2813G>C variant-annotated
datafile_149_3 nswhp/randwick_lab datafile_149_3 NM_000834.3(GRIN2B):c.2813G>C variant-annotated
datafile_149_1 nswhp/randwick_lab datafile_149_1 NM_000834.3(GRIN2B):c.2813G>C variant-annotated
datafile_140_1 nswhp/randwick_lab datafile_140_1 NM_152438.1(DDX11):c.1138G>A variant-annotated 0.03 0.07 0.0 0.0
datafile_140_2 nswhp/randwick_lab datafile_140_2 NM_152438.1(DDX11):c.1949-3C>T variant-annotated 0.0 0.1 0.0 0.0
datafile_99_1 nswhp/randwick_lab datafile_99_1 NM_003482.3(KMT2D):c.8366G>C transcript-annotated 0.0 0.0 0.64 0.35 R/P 1395 25.2 1 cGg/cCg missense_variant&splice_region_variant NP_003473.3 33/54 Tolerated 8085 8085 KMT2D 4.8 gene symbol 0.07 (0.04 - 0.10) https://gnomad.broadinstitute.org/gene/KMT2D 103 NM_003482.3:c.8366G>C NP_003473.3:p.Arg2789Pro 96328117 MODERATE 3.943 5.408 57.833386803550425 9.351 Low Polymorphism Possibly Damaging 5537 2789 NM_003482.3 True 0.372 True Damaging KMT2D ['RefSeq Select'] NM_003482 NM_003482.3 1024959 36350115 11
datafile_82_1 nswhp/randwick_lab datafile_82_1 NM_015335.4(MED13L):c.5334dupC transcript-annotated -/X 1395 1 -/C frameshift_variant NP_056150.1 23/31 23389 23389 MED13L gene symbol 0.02 (0.01 - 0.06) https://gnomad.broadinstitute.org/gene/MED13L NM_015335.4:c.5334dup NP_056150.1:p.Ser1779GlnfsTer3 96328124 HIGH 2210 1778-1779 NM_015335.4 True True MED13L ['RefSeq Select'] NM_015335 NM_015335.4 1026824 36350119 11
datafile_260_1 nswhp/randwick_lab datafile_260_1 NM_015335.4(MED13L):c.4814delC transcript-annotated 0.0 0.07 0.03 0.0 S/X 1395 1 tCa/ta frameshift_variant NP_056150.1 21/31 23389 23389 MED13L gene symbol 0.02 (0.01 - 0.06) https://gnomad.broadinstitute.org/gene/MED13L NM_015335.4:c.4814del NP_056150.1:p.Ser1605Ter 96328125 HIGH 2210 1605 NM_015335.4 True True MED13L ['RefSeq Select'] NM_015335 NM_015335.4 1026824 36350120 11
datafile_116_1 nswhp/randwick_lab datafile_116_1 matched-but-no-annotations
datafile_258_2 nswhp/randwick_lab datafile_258_2 NM_005932.3(MIPEP):c.2080G>A variant-annotated
datafile_259_2 nswhp/randwick_lab datafile_259_2 NM_005932.3(MIPEP):c.2080G>A variant-annotated
datafile_188_1 nswhp/randwick_lab datafile_188_1 NM_016529.5(ATP8A2):c.1339G>A variant-annotated 0.0 0.0 0.06 0.0
datafile_188_2 nswhp/randwick_lab datafile_188_2 NM_016529.5(ATP8A2):c.1867+1G>C variant-annotated 0.0 0.0 0.0 1.0
datafile_131_2 nswhp/randwick_lab datafile_131_2 NM_000359.3(TGM1):c.2149delC transcript-annotated 0.01 0.0 0.0 0.0 L/X 1395 True 2 Ctt/tt frameshift_variant NP_000350.1 14/15 7051 7051 TGM1 gene symbol 0.67 (0.49 - 0.93) https://gnomad.broadinstitute.org/gene/TGM1 NM_000359.3:c.2149del NP_000350.1:p.Leu717PhefsTer34 96328165 HIGH 817 717 NM_000359.3 True True TGM1 ['MANE Select'] NM_000359 NM_000359.3 1090766 36350133 11
datafile_131_1 nswhp/randwick_lab datafile_131_1 NM_000359.3(TGM1):c.967C>G transcript-annotated R/G 1395 26.5 True 2 Cgg/Ggg missense_variant NP_000350.1 6/15 Damaging 7051 7051 TGM1 1.93 gene symbol 0.67 (0.49 - 0.93) https://gnomad.broadinstitute.org/gene/TGM1 125 NM_000359.3:c.967C>G NP_000350.1:p.Arg323Gly 96328166 MODERATE High Disease Causing Probably Damaging 817 323 NM_000359.3 True 0.897 True Damaging TGM1 ['MANE Select'] NM_000359 NM_000359.3 1090766 36350134 11
datafile_47_1 nswhp/randwick_lab datafile_47_1 NM_130838.2(UBE3A):c.1613_1615delGAG variant-annotated
datafile_252_1 nswhp/randwick_lab datafile_252_1 NM_025137.3(SPG11):c.1924A>G variant-annotated
datafile_252_2 nswhp/randwick_lab datafile_252_2 NM_025137.3(SPG11):c.568T>G variant-annotated
datafile_155_2 nswhp/randwick_lab datafile_155_2 NM_000259.3(MYO5A):c.1dupA transcript-annotated M/NX 1395 True 0 atg/aAtg frameshift_variant&start_lost&start_retained_variant NP_000250.3 1/41 4644 4644 MYO5A gene symbol 0.21 (0.15 - 0.29) https://gnomad.broadinstitute.org/gene/MYO5A NM_000259.3:c.1dup NP_000250.3:p.Met1? 96328202 HIGH 1855 1 NM_000259.3 True True MYO5A [] NM_000259 NM_000259.3 1032139 36350139 11
datafile_205_1 nswhp/randwick_lab datafile_205_1 NM_000548.3(TSC2):c.3674_3676delACA variant-annotated 0.01 0.1 0.0 0.0
datafile_199_1 nswhp/randwick_lab datafile_199_1 NM_001089.2(ABCA3):c.59G>A variant-annotated 0.35 0.0 0.0 0.0
datafile_199_2 nswhp/randwick_lab datafile_199_2 NM_001089.2(ABCA3):c.59G>A variant-annotated 0.35 0.0 0.0 0.0
datafile_199_4 nswhp/randwick_lab datafile_199_4 NM_001089.2(ABCA3):c.59G>A variant-annotated 0.35 0.0 0.0 0.0
datafile_199_3 nswhp/randwick_lab datafile_199_3 NM_001089.2(ABCA3):c.59G>A variant-annotated 0.35 0.0 0.0 0.0
datafile_280_1 nswhp/randwick_lab datafile_280_1 NM_004380.2(CREBBP):c.1342_1343insG variant-annotated 0.02 0.0 0.0 0.0
datafile_154_1 nswhp/randwick_lab datafile_154_1 NM_000293.2(PHKB):c.1741G>A variant-annotated 0.0 0.06 0.0 0.0
datafile_87_2 nswhp/randwick_lab datafile_87_2 NM_031885.3(BBS2):c.471G>T variant-annotated 0.0 0.0 0.07 0.87
datafile_87_1 nswhp/randwick_lab datafile_87_1 NM_031885.3(BBS2):c.471G>T variant-annotated 0.0 0.0 0.07 0.87
datafile_257_1 nswhp/randwick_lab datafile_257_1 NM_001605.2(AARS1):c.2400G>A variant-annotated 0.0 0.0 0.01 0.52
datafile_256_1 nswhp/randwick_lab datafile_256_1 NM_001605.2(AARS1):c.1447_1449delGAT variant-annotated
datafile_256_2 nswhp/randwick_lab datafile_256_2 NM_001605.2(AARS1):c.1447_1449delGAT variant-annotated
datafile_172_1 nswhp/randwick_lab datafile_172_1 NM_145059.2(FCSK):c.412-2A>G variant-annotated 0.14 0.95 0.0 0.0
datafile_11_2 nswhp/randwick_lab datafile_11_2 NM_006086.3(TUBB3):c.1012A>G variant-annotated
datafile_241_1 nswhp/randwick_lab datafile_241_1 NM_001031806.1(ALDH3A2):c.1187_1188delCT variant-annotated 0.0 0.0 0.0 0.01
datafile_108_1 nswhp/randwick_lab datafile_108_1 NM_005994.3(TBX2):c.469A>G variant-annotated
datafile_19_1 nswhp/randwick_lab datafile_19_1 NM_000334.4(SCN4A):c.2482C>T transcript-annotated R/C 1395 28.2 True 2 Cgc/Tgc missense_variant NP_000325.4 14/24 Damaging 6329 6329 SCN4A 4.54 gene symbol 0.26 (0.18 - 0.38) https://gnomad.broadinstitute.org/gene/SCN4A 180 NM_000334.4:c.2482C>T NP_000325.4:p.Arg828Cys 96328277 MODERATE Sodium_ion_transport-associated High Disease Causing Probably Damaging 1836 828 NM_000334.4 True 0.804 True Damaging SCN4A ['MANE Select'] NM_000334 NM_000334.4 1039278 36350160 11
datafile_181_1 nswhp/randwick_lab datafile_181_1 NM_000271.4(NPC1):c.1448G>A variant-annotated 0.12 0.0 0.0 0.0
datafile_268_1 nswhp/randwick_lab datafile_268_1 NM_030632.3(ASXL3):c.1266_1270dupTTGCC transcript-annotated L/LCX 1395 True 2 ctt/ctTTGCCt frameshift_variant NP_085135.1 11/12 80816 80816 ASXL3 gene symbol 0.11 (0.06 - 0.20) https://gnomad.broadinstitute.org/gene/ASXL3 NM_030632.3:c.1266_1270dup NP_085135.1:p.Pro424LeufsTer5 96328279 HIGH 2248 422 NM_030632.3 True True ASXL3 ['MANE Select'] NM_030632 NM_030632.3 1083368 36350162 11
datafile_251_2 nswhp/randwick_lab datafile_251_2 NM_019112.3(ABCA7):c.5339G>A variant-annotated
datafile_35_1 nswhp/randwick_lab datafile_35_1 NM_017722.4(TRMT1):c.1636C>T transcript-annotated 0.0 0.0 0.01 0.0 R/* 1395 44.0 0 Cga/Tga stop_gained NP_060192.1 14/16 55621 55621 TRMT1 4.53 gene symbol 0.67 (0.49 - 0.94) https://gnomad.broadinstitute.org/gene/TRMT1 NM_017722.4:c.1636C>T NP_060192.1:p.Arg546Ter 96328307 HIGH Disease causing (automatic) 659 546 NM_017722.4 False False TRMT1 [] NM_017722 NM_017722.4 1042136 36350168 11
datafile_35_2 nswhp/randwick_lab datafile_35_2 NM_017722.4(TRMT1):c.1397+1G>T transcript-annotated 0.0 0.0 0.47 1.0 1395 0 splice_donor_variant NP_060192.1 55621 55621 TRMT1 gene symbol 0.67 (0.49 - 0.94) https://gnomad.broadinstitute.org/gene/TRMT1 NM_017722.4:c.1397+1G>T 96328313 HIGH 11/15 1.129 8.504 88.2890365448505 9.632 659 NM_017722.4 False False TRMT1 [] NM_017722 NM_017722.4 1042136 36350169 11
datafile_15_1 nswhp/randwick_lab datafile_15_1 NM_006494.3(ERF):c.82C>T variant-annotated 0.01 0.01 0.0 0.0
datafile_102_1 nswhp/randwick_lab datafile_102_1 NM_001287491.1(TET3):c.5050_5064del variant-annotated
datafile_7_1 nswhp/randwick_lab datafile_7_1 NM_001079.3(ZAP70):c.1129A>C transcript-annotated 0.06 0.03 0.0 0.0 K/Q 1395 22.8 1 Aag/Cag missense_variant NP_001070.2 10/14 Damaging 7535 7535 ZAP70 4.5 gene symbol 0.17 (0.09 - 0.36) https://gnomad.broadinstitute.org/gene/ZAP70 53 NM_001079.3:c.1129A>C NP_001070.2:p.Lys377Gln 96327764 MODERATE Tyrosine-protein_kinase&Protein_kinase_domain&_catalytic_domain&Serine-threonine/tyrosine-protein_kinase Neutral Disease Causing Benign 619 377 NM_001079.3 True 0.358 True Tolerated ZAP70 ['RefSeq Select'] NM_001079 NM_001079.3 989242 36350177 11
datafile_85_2 nswhp/randwick_lab datafile_85_2 NM_001271208.1(NEB):c.2048G>A variant-annotated 0.02 0.06 0.0 0.0
datafile_278_1 nswhp/randwick_lab datafile_278_1 NM_001165963.2(SCN1A):c.4907G>C variant-annotated 0.41 0.0 0.0 0.0
datafile_200_4 nswhp/randwick_lab datafile_200_4 NM_001353775.1(PJVK):c.356T>C transcript-annotated 0.01 0.0 0.0 0.0 F/S 1395 24.7 0 tTt/tCt missense_variant NP_001340704.1 3/7 Tolerated 494513 494513 PJVK 5.67 155 NM_001353775.1:c.356T>C NP_001340704.1:p.Phe119Ser 96327821 MODERATE Medium Disease Causing Benign 355 119 NM_001353775.1 False 0.497 False PJVK [] NM_001353775 NM_001353775.1 990605 36350183 11
datafile_200_1 nswhp/randwick_lab datafile_200_1 NM_001353775.1(PJVK):c.356T>C transcript-annotated 0.01 0.0 0.0 0.0 F/S 1395 24.7 0 tTt/tCt missense_variant NP_001340704.1 3/7 Tolerated 494513 494513 PJVK 5.67 155 NM_001353775.1:c.356T>C NP_001340704.1:p.Phe119Ser 96327821 MODERATE Medium Disease Causing Benign 355 119 NM_001353775.1 False 0.497 False PJVK [] NM_001353775 NM_001353775.1 990605 36350183 11
datafile_200_3 nswhp/randwick_lab datafile_200_3 NM_001353775.1(PJVK):c.356T>C transcript-annotated 0.01 0.0 0.0 0.0 F/S 1395 24.7 0 tTt/tCt missense_variant NP_001340704.1 3/7 Tolerated 494513 494513 PJVK 5.67 155 NM_001353775.1:c.356T>C NP_001340704.1:p.Phe119Ser 96327821 MODERATE Medium Disease Causing Benign 355 119 NM_001353775.1 False 0.497 False PJVK [] NM_001353775 NM_001353775.1 990605 36350183 11
datafile_200_2 nswhp/randwick_lab datafile_200_2 NM_001353775.1(PJVK):c.356T>C transcript-annotated 0.01 0.0 0.0 0.0 F/S 1395 24.7 0 tTt/tCt missense_variant NP_001340704.1 3/7 Tolerated 494513 494513 PJVK 5.67 155 NM_001353775.1:c.356T>C NP_001340704.1:p.Phe119Ser 96327821 MODERATE Medium Disease Causing Benign 355 119 NM_001353775.1 False 0.497 False PJVK [] NM_001353775 NM_001353775.1 990605 36350183 11
datafile_253_1 nswhp/randwick_lab datafile_253_1 NM_003590.4(CUL3):c.540_541delAG variant-annotated 0.96 0.94 0.0 0.0
datafile_253_2 nswhp/randwick_lab datafile_253_2 NM_003590.4(CUL3):c.540A>G variant-annotated 0.05 0.26 0.0 0.0
datafile_27_1 nswhp/randwick_lab datafile_27_1 NM_015474.3(SAMHD1):c.1516delG variant-annotated 0.0 0.1 0.0 0.0
datafile_26_1 nswhp/randwick_lab datafile_26_1 NM_015474.3(SAMHD1):c.1516delG variant-annotated 0.0 0.1 0.0 0.0
datafile_27_2 nswhp/randwick_lab datafile_27_2 NM_015474.3(SAMHD1):c.902T>C variant-annotated 0.19 0.0 0.0 0.0
datafile_26_2 nswhp/randwick_lab datafile_26_2 NM_015474.3(SAMHD1):c.902T>C variant-annotated 0.19 0.0 0.0 0.0
datafile_18_1 nswhp/randwick_lab datafile_18_1 NM_014657.2(TTI1):c.2302+1G>T variant-annotated 0.0 0.0 0.0 0.89
datafile_5_1 nswhp/randwick_lab datafile_5_1 NM_003895.3(SYNJ1):c.1627+5G>A transcript-annotated 0.0 0.0 0.19 0.05 1395 True 0 splice_region_variant&intron_variant NP_003886.3 8867 8867 SYNJ1 gene symbol 0.22 (0.16 - 0.33) https://gnomad.broadinstitute.org/gene/SYNJ1 NM_003895.3:c.1627+5G>A 96328350 LOW 12/31 2.633 5.006 65.54071746530506 7.638 1612 NM_003895.3 True False splice_donor_5th_base_variant SYNJ1 [] NM_003895 NM_003895.3 1048725 36350193 11
datafile_167_1 nswhp/randwick_lab datafile_167_1 NM_006941.3(SOX10):c.622_623delAA variant-annotated 0.0 0.0 0.01 0.0
datafile_169_1 nswhp/randwick_lab datafile_169_1 NM_018297.3(NGLY1):c.1107G>A variant-annotated 0.0 0.0 0.48 0.04
datafile_207_2 nswhp/randwick_lab datafile_207_2 NM_000094.3(COL7A1):c.6788G>A transcript-annotated 0.01 0.0 0.05 0.0 G/D 1395 26.0 1 gGt/gAt missense_variant NP_000085.1 86/118 Damaging 1294 1294 COL7A1 5.58 gene symbol 0.50 (0.43 - 0.59) https://gnomad.broadinstitute.org/gene/COL7A1 94 NM_000094.3:c.6788G>A NP_000085.1:p.Gly2263Asp 96327853 MODERATE High Disease Causing Probably Damaging 2944 2263 NM_000094.3 True 0.975 True Damaging COL7A1 ['RefSeq Select'] NM_000094 NM_000094.3 993209 36350203 11
datafile_240_1 nswhp/randwick_lab datafile_240_1 NM_000094.3(COL7A1):c.86-9_93del transcript-annotated 1395 1 splice_acceptor_variant&coding_sequence_variant&intron_variant NP_000085.1 2/118 1294 1294 COL7A1 gene symbol 0.50 (0.43 - 0.59) https://gnomad.broadinstitute.org/gene/COL7A1 NM_000094.3:c.86-9_93del 96327854 HIGH 1/117 2944 ?-31 NM_000094.3 False False splice_polypyrimidine_tract_variant COL7A1 ['RefSeq Select'] NM_000094 NM_000094.3 993209 36350204 11
datafile_78_1 nswhp/randwick_lab datafile_78_1 NM_001321194.1(TBL1XR1):c.1491dupA variant-annotated
datafile_4_2 nswhp/randwick_lab datafile_4_2 NM_002185.3(IL7R):c.477T>A variant-annotated 0.0 0.0 0.85 0.0
datafile_219_1 nswhp/randwick_lab datafile_219_1 NM_133433.3(NIPBL):c.8200G>A variant-annotated
datafile_183_2 nswhp/randwick_lab datafile_183_2 NM_001172292.1(NIPAL4):c.897delG transcript-annotated L/X 1395 0 ctG/ct frameshift_variant NP_001165763.1 5/5 348938 348938 NIPAL4 gene symbol 0.47 (0.27 - 0.88) https://gnomad.broadinstitute.org/gene/NIPAL4 NM_001172292.1:c.897del NP_001165763.1:p.Pro300GlnfsTer129 96327890 HIGH 447 299 NM_001172292.1 False False NIPAL4 [] NM_001172292 NM_001172292.1 1001126 36350215 11
datafile_73_1 nswhp/randwick_lab datafile_73_1 NM_006502.2(POLH):c.680G>A variant-annotated
datafile_73_2 nswhp/randwick_lab datafile_73_2 NM_006502.2(POLH):c.884+2dupT variant-annotated 0.0 0.0 0.0 0.91
datafile_218_1 nswhp/randwick_lab datafile_218_1 NM_015570.3(AUTS2):c.3274dupA variant-annotated
datafile_45_1 nswhp/randwick_lab datafile_45_1 NM_194456.1(KRIT1):c.2078_2079delCT transcript-annotated 0.0 0.01 0.0 0.0 T/X 1395 0 aCT/a frameshift_variant NP_919438.1 19/20 889 889 KRIT1 gene symbol 0.32 (0.21 - 0.50) https://gnomad.broadinstitute.org/gene/KRIT1 NM_194456.1:c.2078_2079del NP_919438.1:p.Thr693ArgfsTer8 96327938 HIGH 736 693 NM_194456.1 False False KRIT1 [] NM_194456 NM_194456.1 1009501 36350221 11
datafile_250_1 nswhp/randwick_lab datafile_250_1 NM_004722.3(AP4M1):c.189_190delCC variant-annotated 0.0 0.16 0.0 0.0
datafile_238_1 nswhp/randwick_lab datafile_238_1 NM_004444.5(EPHB4):c.988G>A transcript-annotated V/M 1395 25.6 True 2 Gtg/Atg missense_variant NP_004435.3 6/17 Tolerated 2050 2050 EPHB4 5.46 gene symbol 0.27 (0.18 - 0.42) https://gnomad.broadinstitute.org/gene/EPHB4 21 NM_004444.5:c.988G>A NP_004435.3:p.Val330Met 96327956 MODERATE Fibronectin_type_III Medium Disease Causing Probably Damaging 987 330 NM_004444.5 True 0.259 True Damaging EPHB4 ['MANE Select'] NM_004444 NM_004444.5 1093008 36350223 11
test_1342343543543 fake_org/fake_lab test_1342343543543 NM_006766.4(KAT6A):c.4224dupA variant-annotated
datafile_64_2 nswhp/randwick_lab datafile_64_2 NM_006766.4(KAT6A):c.4224dupA variant-annotated
datafile_64_1 nswhp/randwick_lab datafile_64_1 NM_006766.4(KAT6A):c.4224dupA variant-annotated
datafile_209_1 nswhp/randwick_lab datafile_209_1 NM_017780.3(CHD7):c.374dupT variant-annotated
datafile_118_1 nswhp/randwick_lab datafile_118_1 NM_017780.3(CHD7):c.5860G>T variant-annotated 0.0 0.0 0.05 0.02
datafile_121_1 nswhp/randwick_lab datafile_121_1 NM_024790.6(CSPP1):c.1548T>A transcript-annotated D/E 1395 23.6 0 gaT/gaA missense_variant NP_079066.5 12/29 Tolerated 79848 79848 CSPP1 4.29 gene symbol 0.74 (0.60 - 0.93) https://gnomad.broadinstitute.org/gene/CSPP1 45 NM_024790.6:c.1548T>A NP_079066.5:p.Asp516Glu 96327995 MODERATE Disease Causing Probably Damaging 1221 516 NM_024790.6 False 0.195 False Damaging CSPP1 [] NM_024790 NM_024790.6 1012632 36350231 11
datafile_71_1 nswhp/randwick_lab datafile_71_1 NM_201380.3(PLEC):c.14005G>A variant-annotated
datafile_148_2 nswhp/randwick_lab datafile_148_2 NM_003070.4(SMARCA2):c.1715G>T variant-annotated 0.04 0.0 0.0 0.0
datafile_148_1 nswhp/randwick_lab datafile_148_1 NM_003070.4(SMARCA2):c.1715G>T variant-annotated 0.04 0.0 0.0 0.0
datafile_148_3 nswhp/randwick_lab datafile_148_3 NM_003070.4(SMARCA2):c.1715G>T variant-annotated 0.04 0.0 0.0 0.0
datafile_41_1 nswhp/randwick_lab datafile_41_1 NM_001830.3(CLCN4):c.637dupC variant-annotated 0.0 0.0 0.07 0.0
datafile_9_1 nswhp/randwick_lab datafile_9_1 NM_078629.3(MSL3):c.1171+2T>A variant-annotated 0.0 0.0 0.64 0.93
datafile_137_1 nswhp/randwick_lab datafile_137_1 NM_001039590.2(USP9X):c.1660C>T variant-annotated
datafile_94_1 nswhp/randwick_lab datafile_94_1 NM_001356.4(DDX3X):c.1014_1019delAGACTT transcript-annotated LD/- 1395 1 TTAGAC/- inframe_deletion NP_001347.3 10/17 1654 1654 DDX3X gene symbol 0.00 (0.00 - 0.12) https://gnomad.broadinstitute.org/gene/DDX3X NM_001356.4:c.1014_1019del NP_001347.3:p.Leu338_Asp339del 96328396 MODERATE 662 338-339 NM_001356.4 False True DDX3X ['RefSeq Select'] NM_001356 NM_001356.4 1051392 36350244 11
datafile_61_1 nswhp/randwick_lab datafile_61_1 NM_007075.3(WDR45):c.235+2dupT transcript-annotated 0.08 0.0 0.01 0.88 1395 0 splice_region_variant&intron_variant NP_009006.2 11152 11152 WDR45 gene symbol 0.00 (0.00 - 0.21) https://gnomad.broadinstitute.org/gene/WDR45 NM_007075.3:c.235+2dup 96328406 LOW 5/11 361 NM_007075.3 False False splice_donor_region_variant WDR45 [] NM_007075 NM_007075.3 1051609 36350247 11
datafile_276_1 nswhp/randwick_lab datafile_276_1 ENST00000375379.7(KDM5C):c.3421dupA transcript-annotated -1 ? ENST00000375379.7 ENSG00000126012 KDM5C ENST00000375379.7(KDM5C):c.3421dupA 1557 False ENST00000375379.7
datafile_80_1 nswhp/randwick_lab datafile_80_1 NM_001111125.2(IQSEC2):c.2185C>T variant-annotated
datafile_178_1 nswhp/randwick_lab datafile_178_1 NM_001008537.2(NEXMIF):c.764delA variant-annotated
datafile_29_1 nswhp/randwick_lab datafile_29_1 NM_003588.3(CUL4B):c.2696dupT transcript-annotated M/IX 1395 0 atg/atTg frameshift_variant NP_003579.3 22/22 8450 8450 CUL4B gene symbol 0.00 (0.00 - 0.09) https://gnomad.broadinstitute.org/gene/CUL4B NM_003588.3:c.2696dup NP_003579.3:p.Met899IlefsTer5 96328445 HIGH 913 899 NM_003588.3 False False CUL4B [] NM_003588 NM_003588.3 1052664 36350258 11
datafile_51_1 nswhp/randwick_lab datafile_51_1 NM_002024.5(FMR1):c.413_414delGGinsAA variant-annotated
datafile_14_2 nswhp/randwick_lab datafile_14_2 NM_000093.4(COL5A1):c.4457G= matched-but-no-annotations
datafile_15_2 nswhp/randwick_lab datafile_15_2 NM_006494.3(ERF):c.82C= matched-but-no-annotations
datafile_21_2 nswhp/randwick_lab datafile_21_2 NM_001396.4(DYRK1A):c.328-2A= matched-but-no-annotations
datafile_10_2 nswhp/randwick_lab datafile_10_2 NM_001376.4(DYNC1H1):c.6160C= matched-but-no-annotations
datafile_20_2 nswhp/randwick_lab datafile_20_2 NM_006267.4(RANBP2):c.1190A= matched-but-no-annotations
datafile_220_1 nswhp/randwick_lab datafile_220_1 NM_001013415.2(FBXW7):c.1267A= matched-but-no-annotations
datafile_3_2 nswhp/randwick_lab datafile_3_2 NM_001256182.1(ANKRD11):c.7216C= matched-but-no-annotations
datafile_11_1 nswhp/randwick_lab datafile_11_1 NM_006086.3(TUBB3):c.1012A= matched-but-no-annotations
datafile_2_2 nswhp/randwick_lab datafile_2_2 NM_001396.3(DYRK1A):c.1098G= matched-but-no-annotations
datafile_22_2 nswhp/randwick_lab datafile_22_2 NM_003491.3(NAA10):c.247C= matched-but-no-annotations
vc2817 fake_org/fake_lab vc2817 NM_004006.2(DMD):c.357+1G>A transcript-annotated 0.0 0.0 0.98 1.0 1348 1 splice_donor_variant NP_003997.1 1756 1756 DMD gene symbol 0.10 (0.07 - 0.15) https://gnomad.broadinstitute.org/gene/DMD NM_004006.2:c.357+1G>A 89496745 HIGH 5/78 2.584 8.182 75.99851383986625 10.766 3685 NM_004006.2 True True DMD ['RefSeq Select'] NM_004006 NM_004006.2 1051318 33078145 11
vc2824 vcgs/test vc2824 NM_004006.2(DMD):c.357+1G>A transcript-annotated 0.0 0.0 0.98 1.0 1348 1 splice_donor_variant NP_003997.1 1756 1756 DMD gene symbol 0.10 (0.07 - 0.15) https://gnomad.broadinstitute.org/gene/DMD NM_004006.2:c.357+1G>A 89496745 HIGH 5/78 2.584 8.182 75.99851383986625 10.766 3685 NM_004006.2 True True DMD ['RefSeq Select'] NM_004006 NM_004006.2 1051318 33078145 11
vc2822 vcgs/test vc2822 NM_004006.2(DMD):c.357+1G>A transcript-annotated 0.0 0.0 0.98 1.0 1348 1 splice_donor_variant NP_003997.1 1756 1756 DMD gene symbol 0.10 (0.07 - 0.15) https://gnomad.broadinstitute.org/gene/DMD NM_004006.2:c.357+1G>A 89496745 HIGH 5/78 2.584 8.182 75.99851383986625 10.766 3685 NM_004006.2 True True DMD ['RefSeq Select'] NM_004006 NM_004006.2 1051318 33078145 11
test_1631152590 fake_org/fake_lab test_1631152590 NM_004006.2(DMD):c.357+1G>A transcript-annotated 0.0 0.0 0.98 1.0 1348 1 splice_donor_variant NP_003997.1 1756 1756 DMD gene symbol 0.10 (0.07 - 0.15) https://gnomad.broadinstitute.org/gene/DMD NM_004006.2:c.357+1G>A 89496745 HIGH 5/78 2.584 8.182 75.99851383986625 10.766 3685 NM_004006.2 True True DMD ['RefSeq Select'] NM_004006 NM_004006.2 1051318 33078145 11
test_1631152514 fake_org/fake_lab test_1631152514 LRG_199t1(DMD):c.357+1G>A matched-but-no-annotations
test_1631151882 fake_org/fake_lab test_1631151882 LRG_199t1(DMD):c.357+1G>A matched-but-no-annotations
test_1631240664 fake_org/fake_lab test_1631240664 NM_005629.3(SLC6A8):c.1403A= matched-but-no-annotations
vc2796 sa_pathology/familial_cancer_frome_rd vc2796 NM_004572.3(PKP2):c.2489+1G>A transcript-annotated 0.0 0.0 0.0 0.96 1347 True 0 splice_donor_variant NP_004563.2 5318 5318 PKP2 gene symbol 0.79 (0.59 - 1.06) https://gnomad.broadinstitute.org/gene/PKP2 NM_004572.3:c.2489+1G>A 89862347 HIGH 12/13 1.551 8.182 84.06452275762868 9.733 881 NM_004572.3 True False PKP2 [] NM_004572 NM_004572.3 1024738 33024662 11
test_1635464294 fake_org/fake_lab test_1635464294 NM_000314.7(PTEN):c.210-7_210-3delCTTTT variant-annotated
vc2799 sa_pathology/familial_cancer_frome_rd vc2799 NM_206933.3(USH2A):c.3428_3429dupCA transcript-annotated -/X 1417 True 1 -/CA frameshift_variant NP_996816.2 17/72 7399 7399 USH2A gene symbol 0.76 (0.67 - 0.86) https://gnomad.broadinstitute.org/gene/USH2A NM_206933.3:c.3428_3429dup NP_996816.2:p.Lys1144GlnfsTer10 97219385 HIGH 5202 1143-1144 NM_206933.3 True True USH2A ['RefSeq Select'] NM_206933 NM_206933.3 1100982 36556813 11
test_1635490995 fake_org/fake_lab test_1635490995 XR_934591.1(MAP3K14):c.2603delC variant-annotated
vc2807 sa_pathology/familial_cancer_frome_rd vc2807 NM_001099922.3(ALG13):c.384-5C>T transcript-annotated 1348 True 2 splice_region_variant&intron_variant NP_001093392.1 79868 79868 ALG13 gene symbol 0.05 (0.02 - 0.16) https://gnomad.broadinstitute.org/gene/ALG13 NM_001099922.3:c.384-5C>T 89558183 LOW 3/26 11.923 -0.461 -4.021985691851335 11.462 1137 NM_001099922.3 True True splice_polypyrimidine_tract_variant ALG13 ['MANE Select'] NM_001099922 NM_001099922.3 1086283 33108074 11
test_1639011725 fake_org/fake_lab test_1639011725 NM_018090.5(NECAP2):c.462G= matched-but-no-annotations
vc2846 fake_org/fake_lab vc2846 NM_000546.5(TP53):c.1129A>C transcript-annotated 0.0 0.06 0.0 0.0 T/P 1340 21.6 1 Acc/Ccc missense_variant NP_000537.3 11/11 Damaging 7157 7157 TP53 1.9 gene symbol 0.20 (0.10 - 0.47) https://gnomad.broadinstitute.org/gene/TP53 38 NM_000546.5:c.1129A>C NP_000537.3:p.Thr377Pro 87793282 MODERATE Low Disease Causing Benign 393 377 NM_000546.5 False 0.349 True Tolerated TP53 ['RefSeq Select'] NM_000546 NM_000546.5 1036850 32293689 11
vc2825 vcgs/test vc2825 NM_001126112.2(TP53):c.1129A>C transcript-annotated 0.0 0.06 0.0 0.0 T/P 1340 21.6 True 0 Acc/Ccc missense_variant NP_001119584.1 11/11 Damaging 7157 7157 TP53 1.9 gene symbol 0.20 (0.10 - 0.47) https://gnomad.broadinstitute.org/gene/TP53 38 NM_001126112.2:c.1129A>C NP_001119584.1:p.Thr377Pro 87793283 MODERATE Low Disease Causing Benign 393 377 NM_001126112.2 True 0.349 False Tolerated TP53 [] NM_001126112 NM_001126112.2 1036848 32293689 11
vc2816 sa_pathology/familial_cancer_frome_rd vc2816 NM_001276761.2(TP53):c.1012A>C transcript-annotated 0.0 0.06 0.0 0.0 T/P 1340 21.6 0 Acc/Ccc missense_variant NP_001263690.1 11/11 Damaging 7157 7157 TP53 1.9 gene symbol 0.20 (0.10 - 0.47) https://gnomad.broadinstitute.org/gene/TP53 38 NM_001276761.2:c.1012A>C NP_001263690.1:p.Thr338Pro 87793296 MODERATE Low Disease Causing Benign 354 338 NM_001276761.2 False 0.349 False Tolerated TP53 [] NM_001276761 NM_001276761.2 1069407 32293689 11
vc2849 sa_pathology/familial_cancer_frome_rd vc2849 NM_000049.4(ASPA):c.854A>C transcript-annotated E/A 1340 26.1 True 2 gAg/gCg missense_variant NP_000040.1 6/6 Damaging 443 443 ASPA 4.68 gene symbol 0.59 (0.33 - 1.10) https://gnomad.broadinstitute.org/gene/ASPA 107 NM_000049.4:c.854A>C NP_000040.1:p.Glu285Ala 87769789 MODERATE Medium Disease causing (automatic) Probably Damaging 313 285 NM_000049.4 True 0.946 True Damaging ASPA ['MANE Select'] NM_000049 NM_000049.4 1339178 32286716 11
vc2851 sa_pathology/familial_cancer_frome_rd vc2851 NM_000049.4(ASPA):c.854A>C transcript-annotated E/A 1340 26.1 True 2 gAg/gCg missense_variant NP_000040.1 6/6 Damaging 443 443 ASPA 4.68 gene symbol 0.59 (0.33 - 1.10) https://gnomad.broadinstitute.org/gene/ASPA 107 NM_000049.4:c.854A>C NP_000040.1:p.Glu285Ala 87769789 MODERATE Medium Disease causing (automatic) Probably Damaging 313 285 NM_000049.4 True 0.946 True Damaging ASPA ['MANE Select'] NM_000049 NM_000049.4 1339178 32286716 11
vc2848 sa_pathology/familial_cancer_frome_rd vc2848 NM_000049.4(ASPA):c.854A>C transcript-annotated E/A 1340 26.1 True 2 gAg/gCg missense_variant NP_000040.1 6/6 Damaging 443 443 ASPA 4.68 gene symbol 0.59 (0.33 - 1.10) https://gnomad.broadinstitute.org/gene/ASPA 107 NM_000049.4:c.854A>C NP_000040.1:p.Glu285Ala 87769789 MODERATE Medium Disease causing (automatic) Probably Damaging 313 285 NM_000049.4 True 0.946 True Damaging ASPA ['MANE Select'] NM_000049 NM_000049.4 1339178 32286716 11
vc2853 sa_pathology/familial_cancer_frome_rd vc2853 NM_000049.4(ASPA):c.854A>C transcript-annotated E/A 1340 26.1 True 2 gAg/gCg missense_variant NP_000040.1 6/6 Damaging 443 443 ASPA 4.68 gene symbol 0.59 (0.33 - 1.10) https://gnomad.broadinstitute.org/gene/ASPA 107 NM_000049.4:c.854A>C NP_000040.1:p.Glu285Ala 87769789 MODERATE Medium Disease causing (automatic) Probably Damaging 313 285 NM_000049.4 True 0.946 True Damaging ASPA ['MANE Select'] NM_000049 NM_000049.4 1339178 32286716 11
vc2852 sa_pathology/familial_cancer_frome_rd vc2852 NM_000049.4(ASPA):c.854A>C transcript-annotated E/A 1340 26.1 True 2 gAg/gCg missense_variant NP_000040.1 6/6 Damaging 443 443 ASPA 4.68 gene symbol 0.59 (0.33 - 1.10) https://gnomad.broadinstitute.org/gene/ASPA 107 NM_000049.4:c.854A>C NP_000040.1:p.Glu285Ala 87769789 MODERATE Medium Disease causing (automatic) Probably Damaging 313 285 NM_000049.4 True 0.946 True Damaging ASPA ['MANE Select'] NM_000049 NM_000049.4 1339178 32286716 11
vc2854 sa_pathology/familial_cancer_frome_rd vc2854 NM_000049.4(ASPA):c.854A>C transcript-annotated E/A 1340 26.1 True 2 gAg/gCg missense_variant NP_000040.1 6/6 Damaging 443 443 ASPA 4.68 gene symbol 0.59 (0.33 - 1.10) https://gnomad.broadinstitute.org/gene/ASPA 107 NM_000049.4:c.854A>C NP_000040.1:p.Glu285Ala 87769789 MODERATE Medium Disease causing (automatic) Probably Damaging 313 285 NM_000049.4 True 0.946 True Damaging ASPA ['MANE Select'] NM_000049 NM_000049.4 1339178 32286716 11
datafile_23_1 nswhp/randwick_lab datafile_23_1 transcript-annotated
datafile_214_2 nswhp/randwick_lab datafile_214_2 transcript-annotated
datafile_92_1 nswhp/randwick_lab datafile_92_1 transcript-annotated
test_1643330783 fake_org/fake_lab test_1643330783 transcript-annotated
test_1643330734 fake_org/fake_lab test_1643330734 transcript-annotated
test_1643330797 fake_org/fake_lab test_1643330797 transcript-annotated
vc2816 fake_org/fake_lab vc2816 transcript-annotated
test_1672960819 fake_org/fake_lab test_1672960819 transcript-annotated
test_1345345345 fake_org/fake_lab test_1345345345 transcript-annotated
datafile_231_1 nswhp/randwick_lab datafile_231_1 transcript-annotated
test_1672960818 fake_org/fake_lab test_1672960818 transcript-annotated
test_1675639238 fake_org/fake_lab test_1675639238 transcript-annotated
datafile_263_1 nswhp/randwick_lab datafile_263_1 transcript-annotated
test_1712730369 fake_org/fake_lab test_1712730369 transcript-annotated
test_13423424c fake_org/fake_lab test_13423424c transcript-annotated
test_13423424cd fake_org/fake_lab test_13423424cd transcript-annotated
datafile_95_1 nswhp/randwick_lab datafile_95_1 transcript-annotated
datafile_251_1 nswhp/randwick_lab datafile_251_1 transcript-annotated
datafile_201_2 nswhp/randwick_lab datafile_201_2 transcript-annotated
datafile_66_1 nswhp/randwick_lab datafile_66_1 transcript-annotated
datafile_263_2 nswhp/randwick_lab datafile_263_2 transcript-annotated
datafile_101_1 nswhp/randwick_lab datafile_101_1 transcript-annotated
datafile_263_3 nswhp/randwick_lab datafile_263_3 transcript-annotated
datafile_59_1 nswhp/randwick_lab datafile_59_1 transcript-annotated
datafile_16_1 nswhp/randwick_lab datafile_16_1 transcript-annotated
datafile_111_1 nswhp/randwick_lab datafile_111_1 transcript-annotated
datafile_216_2 nswhp/randwick_lab datafile_216_2 transcript-annotated
datafile_216_1 nswhp/randwick_lab datafile_216_1 transcript-annotated
datafile_18_2 nswhp/randwick_lab datafile_18_2 transcript-annotated
datafile_28_1 nswhp/randwick_lab datafile_28_1 transcript-annotated
datafile_56_1 nswhp/randwick_lab datafile_56_1 transcript-annotated
test_16729688756 fake_org/fake_lab test_16729688756 transcript-annotated
datafile_24_2 nswhp/randwick_lab datafile_24_2 transcript-annotated
datafile_122_1 nswhp/randwick_lab datafile_122_1 transcript-annotated
datafile_228_1 nswhp/randwick_lab datafile_228_1 transcript-annotated
datafile_191_2 nswhp/randwick_lab datafile_191_2 transcript-annotated
datafile_150_2 nswhp/randwick_lab datafile_150_2 transcript-annotated
datafile_215_1 nswhp/randwick_lab datafile_215_1 transcript-annotated
datafile_17_1 nswhp/randwick_lab datafile_17_1 transcript-annotated
datafile_250_2 nswhp/randwick_lab datafile_250_2 transcript-annotated
datafile_40_1 nswhp/randwick_lab datafile_40_1 transcript-annotated
datafile_24_1 nswhp/randwick_lab datafile_24_1 transcript-annotated
datafile_119_1 nswhp/randwick_lab datafile_119_1 transcript-annotated
datafile_44_1 nswhp/randwick_lab datafile_44_1 transcript-annotated
datafile_36_1 nswhp/randwick_lab datafile_36_1 transcript-annotated
datafile_39_1 nswhp/randwick_lab datafile_39_1 transcript-annotated
datafile_9_2 nswhp/randwick_lab datafile_9_2 transcript-annotated
test_1660193302 fake_org/fake_lab test_1660193302 transcript-annotated
datafile_176_1 nswhp/randwick_lab datafile_176_1 transcript-annotated
datafile_214_1 nswhp/randwick_lab datafile_214_1 transcript-annotated
datafile_20_1 nswhp/randwick_lab datafile_20_1 transcript-annotated
test_1672968875 fake_org/fake_lab test_1672968875 transcript-annotated
test_1635489927 fake_org/fake_lab test_1635489927 transcript-annotated
datafile_92_2 nswhp/randwick_lab datafile_92_2 transcript-annotated
datafile_177_1 nswhp/randwick_lab datafile_177_1 transcript-annotated
datafile_13_2 nswhp/randwick_lab datafile_13_2 transcript-annotated
datafile_13_1 nswhp/randwick_lab datafile_13_1 transcript-annotated
datafile_173_1 nswhp/randwick_lab datafile_173_1 transcript-annotated
datafile_59_2 nswhp/randwick_lab datafile_59_2 transcript-annotated
datafile_109_1 nswhp/randwick_lab datafile_109_1 transcript-annotated