aih-tih-sc-e08fa3-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-e08fa3-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-e08fa3-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/d2/a65a0299869a1ad7c565fc5c2b9f89/aih-tih-sc-e08fa3-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 496.2 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-e08fa3-R1_A23YTGFLT4_1)
Attempt

Content

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#gene1

gene2

strand1(gene/fusion)

strand2(gene/fusion)

breakpoint1

breakpoint2

site1

site2

type

split_reads1

split_reads2

discordant_mates

coverage1

coverage2

confidence

reading_frame

tags

retained_protein_domains

closest_genomic_breakpoint1

closest_genomic_breakpoint2

gene_id1

gene_id2

transcript_id1

transcript_id2

direction1

direction2

filters

fusion_transcript

peptide_sequence

read_identifiers

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

773

496

high

stop-codon

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(82),low_entropy(5),mismappers(4),mismatches(1),multimappers(1)

ATTTTTTGTAGAGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCT

LH00995:48:23YTGFLT4:1:1111:14931:24877,LH00995:48:23YTGFLT4:1:1111:14947:24877,LH00995:48:23YTGFLT4:1:1160:6121:18277,LH00995:48:23YTGFLT4:1:1177:17884:11803,LH00995:48:23YTGFLT4:1:1177:17892:11817,LH00995:48:23YTGFLT4:1:1177:17900:11803,LH00995:48:23YTGFLT4:1:1177:17900:11832,LH00995:48:23YTGFLT4:1:1213:22350:9898,LH00995:48:23YTGFLT4:1:1213:22358:9912,LH00995:48:23YTGFLT4:1:1239:38974:13051,LH00995:48:23YTGFLT4:1:1239:38983:13065,LH00995:48:23YTGFLT4:1:1257:52161:1504,LH00995:48:23YTGFLT4:1:1331:43707:21920,LH00995:48:23YTGFLT4:1:1370:7844:29669,LH00995:48:23YTGFLT4:1:1372:7496:19819,LH00995:48:23YTGFLT4:1:1419:32163:24036,LH00995:48:23YTGFLT4:1:1433:17609:5246,LH00995:48:23YTGFLT4:1:1433:17617:5232,LH00995:48:23YTGFLT4:1:1473:35738:8791,LH00995:48:23YTGFLT4:1:1473:35747:8805,LH00995:48:23YTGFLT4:1:2103:51045:17282,LH00995:48:23YTGFLT4:1:2136:27665:28688,LH00995:48:23YTGFLT4:1:2166:18345:18459,LH00995:48:23YTGFLT4:1:2166:34460:20561,LH00995:48:23YTGFLT4:1:2166:34468:20575,LH00995:48:23YTGFLT4:1:2209:41199:21500,LH00995:48:23YTGFLT4:1:2294:25586:24555,LH00995:48:23YTGFLT4:1:2294:25594:24541,LH00995:48:23YTGFLT4:1:2294:34258:9477,LH00995:48:23YTGFLT4:1:2311:6081:29165,LH00995:48:23YTGFLT4:1:2335:3831:7698,LH00995:48:23YTGFLT4:1:2344:8742:6871,LH00995:48:23YTGFLT4:1:2391:27365:8160,LH00995:48:23YTGFLT4:2:1149:6898:19370,LH00995:48:23YTGFLT4:2:1149:6906:19384,LH00995:48:23YTGFLT4:2:1166:30496:14116,LH00995:48:23YTGFLT4:2:1192:26686:21360,LH00995:48:23YTGFLT4:2:1293:17819:29403,LH00995:48:23YTGFLT4:2:1313:36831:19931,LH00995:48:23YTGFLT4:2:1461:44273:22649,LH00995:48:23YTGFLT4:2:2110:7294:13695,LH00995:48:23YTGFLT4:2:2151:27381:18894,LH00995:48:23YTGFLT4:2:2211:41725:27904,LH00995:48:23YTGFLT4:2:2320:33942:10612,LH00995:48:23YTGFLT4:2:2409:43958:4055,LH00995:48:23YTGFLT4:2:2441:48424:23812,LH00995:48:23YTGFLT4:2:2483:8758:2359,LH00995:48:23YTGFLT4:3:1123:9907:20547,LH00995:48:23YTGFLT4:3:1252:17714:14368,LH00995:48:23YTGFLT4:3:1487:3767:14648,LH00995:48:23YTGFLT4:3:1491:46175:22271,LH00995:48:23YTGFLT4:3:2152:47898:10570,LH00995:48:23YTGFLT4:3:2175:49427:29697,LH00995:48:23YTGFLT4:3:2175:49435:29683,LH00995:48:23YTGFLT4:3:2184:16565:11874,LH00995:48:23YTGFLT4:3:2207:41960:26937,LH00995:48:23YTGFLT4:3:2233:4228:29459,LH00995:48:23YTGFLT4:3:2268:6267:29095,LH00995:48:23YTGFLT4:3:2371:21443:9870,LH00995:48:23YTGFLT4:3:2427:3605:24653,LH00995:48:23YTGFLT4:3:2483:7165:16021,LH00995:48:23YTGFLT4:4:1162:36742:16105,LH00995:48:23YTGFLT4:4:1216:11193:17955,LH00995:48:23YTGFLT4:4:1240:2869:15475,LH00995:48:23YTGFLT4:4:1283:19122:29109,LH00995:48:23YTGFLT4:4:1351:12108:23378,LH00995:48:23YTGFLT4:4:1397:30286:15265,LH00995:48:23YTGFLT4:4:1477:32705:24274,LH00995:48:23YTGFLT4:4:1477:32713:24288,LH00995:48:23YTGFLT4:4:2115:18021:22018,LH00995:48:23YTGFLT4:4:2183:43133:7558,LH00995:48:23YTGFLT4:4:2310:29194:19006,LH00995:48:23YTGFLT4:4:2398:45171:19580,LH00995:48:23YTGFLT4:4:2431:49653:4755,LH00995:48:23YTGFLT4:4:2435:39468:21080,LH00995:48:23YTGFLT4:5:1150:22908:6213,LH00995:48:23YTGFLT4:5:1224:4187:24008,LH00995:48:23YTGFLT4:5:1306:45908:20827,LH00995:48:23YTGFLT4:5:1344:14454:23153,LH00995:48:23YTGFLT4:5:1344:14462:23167,LH00995:48:23YTGFLT4:5:1408:17520:7586,LH00995:48:23YTGFLT4:5:1416:9244:14017,LH00995:48:23YTGFLT4:5:1416:9252:14003,LH00995:48:23YTGFLT4:5:2182:46603:18277,LH00995:48:23YTGFLT4:5:2192:4422:4994,LH00995:48:23YTGFLT4:5:2209:32867:11271,LH00995:48:23YTGFLT4:5:2212:8224:23153,LH00995:48:23YTGFLT4:5:2263:22641:19538,LH00995:48:23YTGFLT4:5:2272:38756:14073,LH00995:48:23YTGFLT4:5:2406:34557:18291,LH00995:48:23YTGFLT4:6:1102:45988:3816,LH00995:48:23YTGFLT4:6:1140:27204:3592,LH00995:48:23YTGFLT4:6:1185:49322:13205,LH00995:48:23YTGFLT4:6:1191:41086:6114,LH00995:48:23YTGFLT4:6:1241:11460:4741,LH00995:48:23YTGFLT4:6:1263:29161:13737,LH00995:48:23YTGFLT4:6:1266:23903:8777,LH00995:48:23YTGFLT4:6:1266:23911:8791,LH00995:48:23YTGFLT4:6:1367:44532:9225,LH00995:48:23YTGFLT4:6:1401:19777:17633,LH00995:48:23YTGFLT4:6:1405:24121:4027,LH00995:48:23YTGFLT4:6:1411:18183:9071,LH00995:48:23YTGFLT4:6:1411:18191:9085,LH00995:48:23YTGFLT4:6:1465:7933:14242,LH00995:48:23YTGFLT4:6:2117:23401:12504,LH00995:48:23YTGFLT4:6:2197:32252:18277,LH00995:48:23YTGFLT4:6:2206:5838:11425,LH00995:48:23YTGFLT4:6:2232:33360:21962,LH00995:48:23YTGFLT4:6:2286:2076:14326,LH00995:48:23YTGFLT4:6:2307:37818:2219,LH00995:48:23YTGFLT4:6:2389:17172:21220,LH00995:48:23YTGFLT4:1:1110:9244:29067,LH00995:48:23YTGFLT4:1:1130:22099:8959,LH00995:48:23YTGFLT4:1:1150:27519:4475,LH00995:48:23YTGFLT4:1:1219:31038:21724,LH00995:48:23YTGFLT4:1:1267:18919:11691,LH00995:48:23YTGFLT4:1:1272:34485:7516,LH00995:48:23YTGFLT4:1:1327:23134:6241,LH00995:48:23YTGFLT4:1:1364:25254:12882,LH00995:48:23YTGFLT4:1:1364:33004:5624,LH00995:48:23YTGFLT4:1:1384:9996:28744,LH00995:48:23YTGFLT4:1:1401:17714:28632,LH00995:48:23YTGFLT4:1:1453:26734:4069,LH00995:48:23YTGFLT4:1:1464:11064:28772,LH00995:48:23YTGFLT4:1:1464:11080:28772,LH00995:48:23YTGFLT4:1:1482:21265:2079,LH00995:48:23YTGFLT4:1:2248:24081:7544,LH00995:48:23YTGFLT4:1:2249:11072:26797,LH00995:48:23YTGFLT4:1:2249:11088:26797,LH00995:48:23YTGFLT4:1:2256:41766:12952,LH00995:48:23YTGFLT4:1:2348:22471:27175,LH00995:48:23YTGFLT4:1:2364:30868:1168,LH00995:48:23YTGFLT4:1:2426:43416:1771,LH00995:48:23YTGFLT4:1:2447:29461:5568,LH00995:48:23YTGFLT4:1:2458:31443:2527,LH00995:48:23YTGFLT4:1:2466:37041:7740,LH00995:48:23YTGFLT4:1:2479:26378:29291,LH00995:48:23YTGFLT4:1:2482:44548:14101,LH00995:48:23YTGFLT4:2:1102:47550:27848,LH00995:48:23YTGFLT4:2:1224:47299:7460,LH00995:48:23YTGFLT4:2:1226:27204:16091,LH00995:48:23YTGFLT4:2:1232:11493:21612,LH00995:48:23YTGFLT4:2:1232:11501:21626,LH00995:48:23YTGFLT4:2:1242:44548:25255,LH00995:48:23YTGFLT4:2:1286:47461:2079,LH00995:48:23YTGFLT4:2:1291:20448:2429,LH00995:48:23YTGFLT4:2:1291:20456:2443,LH00995:48:23YTGFLT4:2:1346:5288:7446,LH00995:48:23YTGFLT4:2:1348:11533:1897,LH00995:48:23YTGFLT4:2:1357:17059:16596,LH00995:48:23YTGFLT4:2:1372:10708:13387,LH00995:48:23YTGFLT4:2:1372:10716:13373,LH00995:48:23YTGFLT4:2:1439:10045:5596,LH00995:48:23YTGFLT4:2:1447:33829:4979,LH00995:48:23YTGFLT4:2:1492:50398:27007,LH00995:48:23YTGFLT4:2:2107:29817:20813,LH00995:48:23YTGFLT4:2:2118:21702:22509,LH00995:48:23YTGFLT4:2:2216:11161:29053,LH00995:48:23YTGFLT4:2:2238:35116:3788,LH00995:48:23YTGFLT4:2:2341:6695:24905,LH00995:48:23YTGFLT4:2:2367:5603:7404,LH00995:48:23YTGFLT4:2:2372:1663:3718,LH00995:48:23YTGFLT4:2:2385:3120:25045,LH00995:48:23YTGFLT4:2:2385:3136:25045,LH00995:48:23YTGFLT4:2:2427:16193:10837,LH00995:48:23YTGFLT4:2:2437:5401:27343,LH00995:48:23YTGFLT4:2:2480:51587:29207,LH00995:48:23YTGFLT4:3:1154:5110:17282,LH00995:48:23YTGFLT4:3:1154:5110:17282,LH00995:48:23YTGFLT4:3:1222:41272:18852,LH00995:48:23YTGFLT4:3:1287:22269:29515,LH00995:48:23YTGFLT4:3:1287:22285:29515,LH00995:48:23YTGFLT4:3:1292:40131:14242,LH00995:48:23YTGFLT4:3:1292:40139:14256,LH00995:48:23YTGFLT4:3:1349:22228:23027,LH00995:48:23YTGFLT4:3:1349:22236:23013,LH00995:48:23YTGFLT4:3:1349:22244:22999,LH00995:48:23YTGFLT4:3:1358:15700:2583,LH00995:48:23YTGFLT4:3:1414:12868:28394,LH00995:48:23YTGFLT4:3:1414:12876:28408,LH00995:48:23YTGFLT4:3:1445:43497:20127,LH00995:48:23YTGFLT4:3:1453:45908:19286,LH00995:48:23YTGFLT4:3:1492:13620:28296,LH00995:48:23YTGFLT4:3:2104:45527:16722,LH00995:48:23YTGFLT4:3:2220:42486:16750,LH00995:48:23YTGFLT4:3:2247:31451:5428,LH00995:48:23YTGFLT4:3:2301:34315:8679,LH00995:48:23YTGFLT4:3:2356:46320:13527,LH00995:48:23YTGFLT4:3:2406:39792:20043,LH00995:48:23YTGFLT4:3:2434:35965:7109,LH00995:48:23YTGFLT4:3:2434:35981:7109,LH00995:48:23YTGFLT4:3:2455:40568:24807,LH00995:48:23YTGFLT4:3:2494:46061:9323,LH00995:48:23YTGFLT4:4:1101:49516:27609,LH00995:48:23YTGFLT4:4:1108:5288:6381,LH00995:48:23YTGFLT4:4:1117:20181:22201,LH00995:48:23YTGFLT4:4:1117:20198:22201,LH00995:48:23YTGFLT4:4:1130:18984:15054,LH00995:48:23YTGFLT4:4:1156:15449:2037,LH00995:48:23YTGFLT4:4:1197:8912:16778,LH00995:48:23YTGFLT4:4:1263:42049:26671,LH00995:48:23YTGFLT4:4:1348:33044:26348,LH00995:48:23YTGFLT4:4:1416:51692:14031,LH00995:48:23YTGFLT4:4:2150:35431:22607,LH00995:48:23YTGFLT4:4:2169:20117:3424,LH00995:48:23YTGFLT4:4:2247:7828:3298,LH00995:48:23YTGFLT4:4:2438:16792:22831,LH00995:48:23YTGFLT4:4:2459:34751:9491,LH00995:48:23YTGFLT4:5:1177:34129:26292,LH00995:48:23YTGFLT4:5:1191:14106:22495,LH00995:48:23YTGFLT4:5:1202:9899:26895,LH00995:48:23YTGFLT4:5:1258:47558:20351,LH00995:48:23YTGFLT4:5:1274:14308:27217,LH00995:48:23YTGFLT4:5:1285:13839:8104,LH00995:48:23YTGFLT4:5:1396:36709:27063,LH00995:48:23YTGFLT4:5:1437:3354:8721,LH00995:48:23YTGFLT4:5:1441:39282:8034,LH00995:48:23YTGFLT4:5:1482:30237:21542,LH00995:48:23YTGFLT4:5:2186:35188:3662,LH00995:48:23YTGFLT4:5:2208:18118:5484,LH00995:48:23YTGFLT4:5:2264:35269:24260,LH00995:48:23YTGFLT4:5:2269:39630:12140,LH00995:48:23YTGFLT4:5:2303:38910:28072,LH00995:48:23YTGFLT4:5:2371:26079:21682,LH00995:48:23YTGFLT4:5:2412:14939:13625,LH00995:48:23YTGFLT4:5:2483:8200:28156,LH00995:48:23YTGFLT4:6:1126:44621:13975,LH00995:48:23YTGFLT4:6:1133:46094:3242,LH00995:48:23YTGFLT4:6:1186:8394:13807,LH00995:48:23YTGFLT4:6:1227:23061:3592,LH00995:48:23YTGFLT4:6:1251:44257:24555,LH00995:48:23YTGFLT4:6:1330:23798:4335,LH00995:48:23YTGFLT4:6:1345:28449:7432,LH00995:48:23YTGFLT4:6:1351:6420:25073,LH00995:48:23YTGFLT4:6:1376:22770:23462,LH00995:48:23YTGFLT4:6:1407:32244:9604,LH00995:48:23YTGFLT4:6:1407:32252:9590,LH00995:48:23YTGFLT4:6:1437:9486:28450,LH00995:48:23YTGFLT4:6:1478:42777:8763,LH00995:48:23YTGFLT4:6:1496:40633:29039,LH00995:48:23YTGFLT4:6:2131:37340:26979,LH00995:48:23YTGFLT4:6:2159:3160:4321,LH00995:48:23YTGFLT4:6:2171:48189:28646,LH00995:48:23YTGFLT4:6:2183:43958:23980,LH00995:48:23YTGFLT4:6:2294:36499:28969,LH00995:48:23YTGFLT4:6:2331:38376:27455,LH00995:48:23YTGFLT4:6:2337:2958:21514,LH00995:48:23YTGFLT4:1:1119:31168:9253,LH00995:48:23YTGFLT4:4:2392:6890:14704

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2500

496

medium

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(47),low_entropy(4)

CTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGA

FTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1206:35536:8328,LH00995:48:23YTGFLT4:1:2314:22074:6759,LH00995:48:23YTGFLT4:1:2331:17237:12840,LH00995:48:23YTGFLT4:2:1252:23142:20883,LH00995:48:23YTGFLT4:2:1252:23150:20897,LH00995:48:23YTGFLT4:2:1304:34711:7095,LH00995:48:23YTGFLT4:2:1304:34719:7081,LH00995:48:23YTGFLT4:2:1372:3848:28268,LH00995:48:23YTGFLT4:2:1406:13936:8300,LH00995:48:23YTGFLT4:2:1406:13952:8300,LH00995:48:23YTGFLT4:2:1444:48771:7768,LH00995:48:23YTGFLT4:2:2448:40835:25325,LH00995:48:23YTGFLT4:3:1259:7326:27679,LH00995:48:23YTGFLT4:3:2413:37154:16904,LH00995:48:23YTGFLT4:3:2462:44087:13387,LH00995:48:23YTGFLT4:4:1304:5183:12784,LH00995:48:23YTGFLT4:4:1370:22916:25087,LH00995:48:23YTGFLT4:4:2152:24000:21948,LH00995:48:23YTGFLT4:4:2168:35755:29081,LH00995:48:23YTGFLT4:4:2168:35771:29081,LH00995:48:23YTGFLT4:5:1114:19955:20267,LH00995:48:23YTGFLT4:5:1170:19631:14326,LH00995:48:23YTGFLT4:5:1170:19647:14326,LH00995:48:23YTGFLT4:5:1170:19664:14326,LH00995:48:23YTGFLT4:5:1179:34525:23980,LH00995:48:23YTGFLT4:5:1192:44176:22313,LH00995:48:23YTGFLT4:5:1273:10651:14298,LH00995:48:23YTGFLT4:5:1388:36790:21458,LH00995:48:23YTGFLT4:5:2147:50147:4797,LH00995:48:23YTGFLT4:5:2160:9357:7460,LH00995:48:23YTGFLT4:5:2252:46142:25185,LH00995:48:23YTGFLT4:5:2418:25577:10332,LH00995:48:23YTGFLT4:5:2418:25586:10346,LH00995:48:23YTGFLT4:6:1241:29129:5078,LH00995:48:23YTGFLT4:6:2101:32203:2667,LH00995:48:23YTGFLT4:6:2177:39314:29333,LH00995:48:23YTGFLT4:6:2177:39322:29347,LH00995:48:23YTGFLT4:6:2187:24453:15727,LH00995:48:23YTGFLT4:6:2374:19623:16329,LH00995:48:23YTGFLT4:1:1241:13693:12924,LH00995:48:23YTGFLT4:1:1261:16735:4069,LH00995:48:23YTGFLT4:1:1308:22422:22074,LH00995:48:23YTGFLT4:1:1383:11234:2471,LH00995:48:23YTGFLT4:1:1395:14963:22523,LH00995:48:23YTGFLT4:1:1406:34816:2822,LH00995:48:23YTGFLT4:1:1479:1979:25395,LH00995:48:23YTGFLT4:1:2143:20885:20505,LH00995:48:23YTGFLT4:1:2153:26718:16820,LH00995:48:23YTGFLT4:1:2155:22568:2597,LH00995:48:23YTGFLT4:1:2383:1129:28212,LH00995:48:23YTGFLT4:1:2451:7351:14130,LH00995:48:23YTGFLT4:1:2457:33489:29557,LH00995:48:23YTGFLT4:1:2472:40698:1462,LH00995:48:23YTGFLT4:2:1176:49953:23826,LH00995:48:23YTGFLT4:2:1259:15497:19272,LH00995:48:23YTGFLT4:2:1275:37170:17156,LH00995:48:23YTGFLT4:2:1311:12269:21976,LH00995:48:23YTGFLT4:2:1331:17018:27876,LH00995:48:23YTGFLT4:2:1331:17034:27876,LH00995:48:23YTGFLT4:2:1345:5619:17296,LH00995:48:23YTGFLT4:2:1389:13993:28969,LH00995:48:23YTGFLT4:2:1404:11727:25690,LH00995:48:23YTGFLT4:2:1417:9794:21864,LH00995:48:23YTGFLT4:2:1419:47615:25129,LH00995:48:23YTGFLT4:2:1477:38538:11257,LH00995:48:23YTGFLT4:2:1479:8863:20197,LH00995:48:23YTGFLT4:2:2290:43303:20071,LH00995:48:23YTGFLT4:2:2316:28239:6114,LH00995:48:23YTGFLT4:2:2424:8694:10374,LH00995:48:23YTGFLT4:2:2478:35083:20323,LH00995:48:23YTGFLT4:2:2486:49063:22789,LH00995:48:23YTGFLT4:3:1113:51457:26881,LH00995:48:23YTGFLT4:3:1363:32794:22803,LH00995:48:23YTGFLT4:3:2141:41984:8987,LH00995:48:23YTGFLT4:3:2173:9260:25956,LH00995:48:23YTGFLT4:3:2173:9268:25942,LH00995:48:23YTGFLT4:3:2173:9284:25942,LH00995:48:23YTGFLT4:3:2181:5077:8539,LH00995:48:23YTGFLT4:3:2340:29590:10444,LH00995:48:23YTGFLT4:3:2426:24938:1575,LH00995:48:23YTGFLT4:3:2427:37292:18011,LH00995:48:23YTGFLT4:4:1159:39015:2976,LH00995:48:23YTGFLT4:4:1207:15497:2205,LH00995:48:23YTGFLT4:4:1235:13928:17563,LH00995:48:23YTGFLT4:4:1298:31257:16834,LH00995:48:23YTGFLT4:4:1319:48974:15068,LH00995:48:23YTGFLT4:4:1342:18620:7025,LH00995:48:23YTGFLT4:4:1358:36968:8735,LH00995:48:23YTGFLT4:4:1358:36984:8735,LH00995:48:23YTGFLT4:4:1371:37300:2331,LH00995:48:23YTGFLT4:4:1371:37316:2331,LH00995:48:23YTGFLT4:4:1403:15352:2093,LH00995:48:23YTGFLT4:4:2263:25351:10725,LH00995:48:23YTGFLT4:4:2272:28093:19875,LH00995:48:23YTGFLT4:4:2334:41215:6114,LH00995:48:23YTGFLT4:4:2346:7512:6871,LH00995:48:23YTGFLT4:4:2410:5773:25465,LH00995:48:23YTGFLT4:4:2475:36758:14031,LH00995:48:23YTGFLT4:5:1155:14510:10052,LH00995:48:23YTGFLT4:5:1211:40512:23616,LH00995:48:23YTGFLT4:5:1224:12690:13345,LH00995:48:23YTGFLT4:5:1320:35391:11159,LH00995:48:23YTGFLT4:5:1335:48270:18641,LH00995:48:23YTGFLT4:5:1362:32761:16077,LH00995:48:23YTGFLT4:5:2145:6210:13359,LH00995:48:23YTGFLT4:5:2153:6436:16918,LH00995:48:23YTGFLT4:5:2250:5199:29235,LH00995:48:23YTGFLT4:5:2257:27115:27848,LH00995:48:23YTGFLT4:5:2293:5142:6661,LH00995:48:23YTGFLT4:5:2364:26467:6997,LH00995:48:23YTGFLT4:5:2422:22026:27329,LH00995:48:23YTGFLT4:5:2426:39913:25297,LH00995:48:23YTGFLT4:5:2494:13135:11761,LH00995:48:23YTGFLT4:6:1112:13993:17366,LH00995:48:23YTGFLT4:6:1303:48998:23798,LH00995:48:23YTGFLT4:6:2205:35383:13891,LH00995:48:23YTGFLT4:6:2270:22406:11117,LH00995:48:23YTGFLT4:6:2345:51134:18333,LH00995:48:23YTGFLT4:6:2376:37187:8749,LH00995:48:23YTGFLT4:4:2392:6890:14704

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

2500

749

medium

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(8),low_entropy(1)

GTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTGGAATGCA

VIFAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:1:2138:30893:10514,LH00995:48:23YTGFLT4:3:2250:7464:3144,LH00995:48:23YTGFLT4:3:2474:21775:14984,LH00995:48:23YTGFLT4:3:2474:21783:14970,LH00995:48:23YTGFLT4:3:2478:5482:17366,LH00995:48:23YTGFLT4:4:2339:43011:16708,LH00995:48:23YTGFLT4:6:1208:28004:17366,LH00995:48:23YTGFLT4:6:1413:47501:27511,LH00995:48:23YTGFLT4:6:2147:21346:26516,LH00995:48:23YTGFLT4:1:2266:30035:1967,LH00995:48:23YTGFLT4:1:2266:30051:1967,LH00995:48:23YTGFLT4:2:2357:29501:3760,LH00995:48:23YTGFLT4:2:2357:29517:3760,LH00995:48:23YTGFLT4:2:2466:47534:24961,LH00995:48:23YTGFLT4:3:1206:18919:9786,LH00995:48:23YTGFLT4:3:2375:13451:22845,LH00995:48:23YTGFLT4:3:2447:22495:16848,LH00995:48:23YTGFLT4:4:1231:2375:13387,LH00995:48:23YTGFLT4:4:1476:43311:1084,LH00995:48:23YTGFLT4:4:2237:30278:1518,LH00995:48:23YTGFLT4:4:2237:30286:1504,LH00995:48:23YTGFLT4:5:1335:24251:6213,LH00995:48:23YTGFLT4:5:1367:27082:7558,LH00995:48:23YTGFLT4:5:2251:16193:15601,LH00995:48:23YTGFLT4:6:1450:18054:8847,LH00995:48:23YTGFLT4:6:2297:16420:9772

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

496

medium

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000581273.5

ENST00000619038.5

upstream

downstream

duplicates(1)

GCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTA

LH00995:48:23YTGFLT4:1:2190:39921:4517,LH00995:48:23YTGFLT4:1:2354:40358:28618,LH00995:48:23YTGFLT4:2:2168:35884:10052,LH00995:48:23YTGFLT4:2:2484:46045:18796,LH00995:48:23YTGFLT4:3:1391:23644:27890,LH00995:48:23YTGFLT4:3:2281:33125:9786,LH00995:48:23YTGFLT4:4:2101:23288:23798,LH00995:48:23YTGFLT4:4:2403:4479:18627,LH00995:48:23YTGFLT4:5:2341:44880:19524,LH00995:48:23YTGFLT4:6:1324:46061:8651,LH00995:48:23YTGFLT4:6:1336:11905:22663,LH00995:48:23YTGFLT4:6:1336:12019:22915,LH00995:48:23YTGFLT4:6:2252:5725:4615,LH00995:48:23YTGFLT4:4:1422:8192:19510,LH00995:48:23YTGFLT4:4:2392:6890:14704

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15453085

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2500

low

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

TCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAACCCAGTGAAATGAGC

SVLWVIFAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|epsem

LH00995:48:23YTGFLT4:3:1172:7642:23910,LH00995:48:23YTGFLT4:4:2392:6890:14704

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1173

496

low

out-of-frame

Eukaryotic_protein_of_unknown_function_(DUF846)(86%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

CTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTC

FSFTVKWL|esepvmlrnq*

LH00995:48:23YTGFLT4:4:2262:23021:1280

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15438200

3'UTR/splice-site

CDS/splice-site

deletion/read-through

749

low

Eukaryotic_protein_of_unknown_function_(DUF846)(100%)|CMT1A_duplicated_region_transcript_4_protein(100%)

ENSG00000175106.17

ENSG00000239704.11

ENST00000581273.5

ENST00000619038.5

upstream

downstream

GCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCT

LH00995:48:23YTGFLT4:3:2383:38133:13051

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

987

587

high

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000204967.12

ENSG00000243232.6

ENST00000672575.1

ENST00000289269.7

downstream

upstream

duplicates(143),low_entropy(1),mismatches(14)

TGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGAGGCCGAGGGTGTGCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG

AVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

LH00995:48:23YTGFLT4:1:1156:51441:14101,LH00995:48:23YTGFLT4:1:1221:13418:19987,LH00995:48:23YTGFLT4:1:1239:39945:9155,LH00995:48:23YTGFLT4:1:1292:4705:28912,LH00995:48:23YTGFLT4:1:1315:5716:9590,LH00995:48:23YTGFLT4:1:1370:9859:25620,LH00995:48:23YTGFLT4:1:1434:5061:7614,LH00995:48:23YTGFLT4:1:1435:15117:11832,LH00995:48:23YTGFLT4:1:2180:50163:29515,LH00995:48:23YTGFLT4:1:2193:51959:28983,LH00995:48:23YTGFLT4:1:2211:49580:7936,LH00995:48:23YTGFLT4:1:2217:50260:14298,LH00995:48:23YTGFLT4:1:2267:37235:7432,LH00995:48:23YTGFLT4:1:2292:35318:8539,LH00995:48:23YTGFLT4:1:2331:25019:25956,LH00995:48:23YTGFLT4:1:2374:39330:22411,LH00995:48:23YTGFLT4:1:2407:35002:5666,LH00995:48:23YTGFLT4:1:2428:51223:19608,LH00995:48:23YTGFLT4:1:2433:19688:19524,LH00995:48:23YTGFLT4:1:2444:1841:11005,LH00995:48:23YTGFLT4:1:2448:48634:2906,LH00995:48:23YTGFLT4:1:2448:48650:2906,LH00995:48:23YTGFLT4:2:1129:6655:28618,LH00995:48:23YTGFLT4:2:1139:13628:3873,LH00995:48:23YTGFLT4:2:1140:15465:25886,LH00995:48:23YTGFLT4:2:1140:15473:25872,LH00995:48:23YTGFLT4:2:1140:15481:25886,LH00995:48:23YTGFLT4:2:1140:15497:25886,LH00995:48:23YTGFLT4:2:1187:39314:10668,LH00995:48:23YTGFLT4:2:1265:5417:18039,LH00995:48:23YTGFLT4:2:1359:2173:11131,LH00995:48:23YTGFLT4:2:1385:23280:27231,LH00995:48:23YTGFLT4:2:1385:23296:27231,LH00995:48:23YTGFLT4:2:1403:41757:29081,LH00995:48:23YTGFLT4:2:1449:34007:21710,LH00995:48:23YTGFLT4:2:1476:7917:7235,LH00995:48:23YTGFLT4:2:2213:41604:23994,LH00995:48:23YTGFLT4:2:2247:45746:19398,LH00995:48:23YTGFLT4:2:2276:4649:3704,LH00995:48:23YTGFLT4:2:2286:49281:7249,LH00995:48:23YTGFLT4:2:2286:49289:7235,LH00995:48:23YTGFLT4:2:2287:30520:7852,LH00995:48:23YTGFLT4:2:2387:12593:14073,LH00995:48:23YTGFLT4:2:2434:4835:18095,LH00995:48:23YTGFLT4:2:2482:22778:24260,LH00995:48:23YTGFLT4:2:2497:47372:10472,LH00995:48:23YTGFLT4:3:1148:17552:27315,LH00995:48:23YTGFLT4:3:1159:22147:20757,LH00995:48:23YTGFLT4:3:1162:38829:26362,LH00995:48:23YTGFLT4:3:1184:1113:26474,LH00995:48:23YTGFLT4:3:1238:20918:24737,LH00995:48:23YTGFLT4:3:1379:26540:11775,LH00995:48:23YTGFLT4:3:1418:5975:11131,LH00995:48:23YTGFLT4:3:1420:42858:23728,LH00995:48:23YTGFLT4:3:1456:49993:11621,LH00995:48:23YTGFLT4:3:1483:30245:11103,LH00995:48:23YTGFLT4:3:1497:17884:8805,LH00995:48:23YTGFLT4:3:2101:30043:16077,LH00995:48:23YTGFLT4:3:2154:34832:25325,LH00995:48:23YTGFLT4:3:2183:36183:29011,LH00995:48:23YTGFLT4:3:2189:41935:21038,LH00995:48:23YTGFLT4:3:2256:14988:15194,LH00995:48:23YTGFLT4:3:2297:47226:19468,LH00995:48:23YTGFLT4:3:2363:44759:24611,LH00995:48:23YTGFLT4:3:2426:32697:28268,LH00995:48:23YTGFLT4:3:2449:40568:12756,LH00995:48:23YTGFLT4:3:2476:34921:23910,LH00995:48:23YTGFLT4:3:2478:14203:12742,LH00995:48:23YTGFLT4:4:1144:40479:21066,LH00995:48:23YTGFLT4:4:1151:37996:10262,LH00995:48:23YTGFLT4:4:1163:26678:2177,LH00995:48:23YTGFLT4:4:1219:50260:11383,LH00995:48:23YTGFLT4:4:1219:52024:7432,LH00995:48:23YTGFLT4:4:1301:4365:28969,LH00995:48:23YTGFLT4:4:1349:37510:28198,LH00995:48:23YTGFLT4:4:1360:41110:4167,LH00995:48:23YTGFLT4:4:1498:2723:20996,LH00995:48:23YTGFLT4:4:2114:2618:7810,LH00995:48:23YTGFLT4:4:2261:24040:17002,LH00995:48:23YTGFLT4:4:2330:31475:7123,LH00995:48:23YTGFLT4:4:2371:3516:27806,LH00995:48:23YTGFLT4:4:2430:34201:3971,LH00995:48:23YTGFLT4:5:1102:3484:2836,LH00995:48:23YTGFLT4:5:1129:31329:2555,LH00995:48:23YTGFLT4:5:1157:49758:28310,LH00995:48:23YTGFLT4:5:1266:34387:25423,LH00995:48:23YTGFLT4:5:1277:9236:13667,LH00995:48:23YTGFLT4:5:1277:9244:13653,LH00995:48:23YTGFLT4:5:1277:9252:13667,LH00995:48:23YTGFLT4:5:1277:9268:13667,LH00995:48:23YTGFLT4:5:1277:9276:13681,LH00995:48:23YTGFLT4:5:1286:28004:4923,LH00995:48:23YTGFLT4:5:1294:49564:25059,LH00995:48:23YTGFLT4:5:1429:12536:9379,LH00995:48:23YTGFLT4:5:1439:27503:27848,LH00995:48:23YTGFLT4:5:1452:18135:13135,LH00995:48:23YTGFLT4:5:2159:10304:28604,LH00995:48:23YTGFLT4:5:2210:41013:26474,LH00995:48:23YTGFLT4:5:2210:41021:26460,LH00995:48:23YTGFLT4:5:2210:41021:26488,LH00995:48:23YTGFLT4:5:2262:11752:19819,LH00995:48:23YTGFLT4:5:2262:11760:19804,LH00995:48:23YTGFLT4:5:2292:15376:5302,LH00995:48:23YTGFLT4:5:2317:9519:4797,LH00995:48:23YTGFLT4:5:2337:19186:16385,LH00995:48:23YTGFLT4:5:2341:23191:22677,LH00995:48:23YTGFLT4:5:2374:30415:2233,LH00995:48:23YTGFLT4:5:2393:46474:14634,LH00995:48:23YTGFLT4:6:1170:36645:5624,LH00995:48:23YTGFLT4:6:1202:31483:20337,LH00995:48:23YTGFLT4:6:1232:50915:20561,LH00995:48:23YTGFLT4:6:1248:37559:4741,LH00995:48:23YTGFLT4:6:1266:20723:16189,LH00995:48:23YTGFLT4:6:1266:20732:16175,LH00995:48:23YTGFLT4:6:1298:14874:21640,LH00995:48:23YTGFLT4:6:1301:15651:5974,LH00995:48:23YTGFLT4:6:1324:25586:1518,LH00995:48:23YTGFLT4:6:1366:5433:25942,LH00995:48:23YTGFLT4:6:1366:5450:25942,LH00995:48:23YTGFLT4:6:1407:31160:9435,LH00995:48:23YTGFLT4:6:1456:10999:10837,LH00995:48:23YTGFLT4:6:1493:20804:22775,LH00995:48:23YTGFLT4:6:2101:42405:3550,LH00995:48:23YTGFLT4:6:2149:13507:13387,LH00995:48:23YTGFLT4:6:2164:5967:23840,LH00995:48:23YTGFLT4:6:2192:22584:4419,LH00995:48:23YTGFLT4:6:2253:1445:5498,LH00995:48:23YTGFLT4:6:2253:1453:5512,LH00995:48:23YTGFLT4:6:2253:1461:5498,LH00995:48:23YTGFLT4:6:2376:1413:4741,LH00995:48:23YTGFLT4:6:2378:10109:17675,LH00995:48:23YTGFLT4:1:1211:29461:19020,LH00995:48:23YTGFLT4:1:1333:30828:5610,LH00995:48:23YTGFLT4:1:1386:29986:22117,LH00995:48:23YTGFLT4:1:1441:50025:17563,LH00995:48:23YTGFLT4:1:1488:30593:8511,LH00995:48:23YTGFLT4:1:2141:36175:28997,LH00995:48:23YTGFLT4:1:2142:36952:1364,LH00995:48:23YTGFLT4:1:2142:36960:1350,LH00995:48:23YTGFLT4:1:2145:26807:23280,LH00995:48:23YTGFLT4:1:2208:14802:23167,LH00995:48:23YTGFLT4:1:2251:51352:26755,LH00995:48:23YTGFLT4:1:2306:41935:19188,LH00995:48:23YTGFLT4:1:2324:37429:4994,LH00995:48:23YTGFLT4:1:2342:33748:24457,LH00995:48:23YTGFLT4:1:2429:41571:14382,LH00995:48:23YTGFLT4:1:2455:4535:19875,LH00995:48:23YTGFLT4:2:1154:37737:13849,LH00995:48:23YTGFLT4:2:1206:49411:8763,LH00995:48:23YTGFLT4:2:1249:13588:23560,LH00995:48:23YTGFLT4:2:1305:35229:3592,LH00995:48:23YTGFLT4:2:1393:28150:19048,LH00995:48:23YTGFLT4:2:1421:27438:20085,LH00995:48:23YTGFLT4:2:1426:39460:23083,LH00995:48:23YTGFLT4:2:1441:13151:21542,LH00995:48:23YTGFLT4:2:1465:20699:8665,LH00995:48:23YTGFLT4:2:2134:15214:5890,LH00995:48:23YTGFLT4:2:2226:28943:25690,LH00995:48:23YTGFLT4:2:2229:38707:26769,LH00995:48:23YTGFLT4:2:2248:47736:28702,LH00995:48:23YTGFLT4:2:2249:18507:16890,LH00995:48:23YTGFLT4:2:2259:29768:15909,LH00995:48:23YTGFLT4:2:2298:37745:5568,LH00995:48:23YTGFLT4:2:2305:32349:28814,LH00995:48:23YTGFLT4:2:2325:25335:17787,LH00995:48:23YTGFLT4:2:2341:35366:12378,LH00995:48:23YTGFLT4:2:2341:35374:12392,LH00995:48:23YTGFLT4:2:2352:27770:27105,LH00995:48:23YTGFLT4:2:2379:3710:21752,LH00995:48:23YTGFLT4:2:2389:19405:25059,LH00995:48:23YTGFLT4:2:2417:41353:10220,LH00995:48:23YTGFLT4:2:2437:31418:7950,LH00995:48:23YTGFLT4:2:2479:8087:25269,LH00995:48:23YTGFLT4:3:1127:9527:3298,LH00995:48:23YTGFLT4:3:1127:9535:3312,LH00995:48:23YTGFLT4:3:1204:25173:6969,LH00995:48:23YTGFLT4:3:1204:9996:26530,LH00995:48:23YTGFLT4:3:1209:26492:6899,LH00995:48:23YTGFLT4:3:1248:42194:2962,LH00995:48:23YTGFLT4:3:1248:49904:15811,LH00995:48:23YTGFLT4:3:1264:48302:17885,LH00995:48:23YTGFLT4:3:1294:9575:24092,LH00995:48:23YTGFLT4:3:1298:32341:21318,LH00995:48:23YTGFLT4:3:1298:32349:21304,LH00995:48:23YTGFLT4:3:1298:32349:21332,LH00995:48:23YTGFLT4:3:1298:32365:21332,LH00995:48:23YTGFLT4:3:1327:15481:18684,LH00995:48:23YTGFLT4:3:1338:28247:28100,LH00995:48:23YTGFLT4:3:1342:50559:8146,LH00995:48:23YTGFLT4:3:1355:2780:13443,LH00995:48:23YTGFLT4:3:1356:38594:9309,LH00995:48:23YTGFLT4:3:1361:4673:10164,LH00995:48:23YTGFLT4:3:1390:22819:6086,LH00995:48:23YTGFLT4:3:1479:45657:7614,LH00995:48:23YTGFLT4:3:2191:6509:6731,LH00995:48:23YTGFLT4:3:2196:24299:26558,LH00995:48:23YTGFLT4:3:2198:33942:27371,LH00995:48:23YTGFLT4:3:2210:4171:22719,LH00995:48:23YTGFLT4:3:2230:10813:16568,LH00995:48:23YTGFLT4:3:2237:39533:17128,LH00995:48:23YTGFLT4:3:2257:39096:14970,LH00995:48:23YTGFLT4:3:2285:14971:27077,LH00995:48:23YTGFLT4:3:2287:51506:10626,LH00995:48:23YTGFLT4:3:2374:29873:13737,LH00995:48:23YTGFLT4:3:2416:41401:12350,LH00995:48:23YTGFLT4:3:2429:37267:20155,LH00995:48:23YTGFLT4:3:2429:37276:20169,LH00995:48:23YTGFLT4:3:2452:21007:6143,LH00995:48:23YTGFLT4:3:2453:19219:22523,LH00995:48:23YTGFLT4:3:2462:8435:16287,LH00995:48:23YTGFLT4:3:2474:37486:19216,LH00995:48:23YTGFLT4:4:1142:4843:3032,LH00995:48:23YTGFLT4:4:1142:4851:3018,LH00995:48:23YTGFLT4:4:1211:14769:25774,LH00995:48:23YTGFLT4:4:1264:4641:26839,LH00995:48:23YTGFLT4:4:1280:29016:14017,LH00995:48:23YTGFLT4:4:1295:51231:25872,LH00995:48:23YTGFLT4:4:1324:46886:10024,LH00995:48:23YTGFLT4:4:1336:36596:20841,LH00995:48:23YTGFLT4:4:1425:24170:4671,LH00995:48:23YTGFLT4:4:1427:27406:19973,LH00995:48:23YTGFLT4:4:1476:38974:4167,LH00995:48:23YTGFLT4:4:1476:38991:4167,LH00995:48:23YTGFLT4:4:1481:15837:15208,LH00995:48:23YTGFLT4:4:1491:49985:13961,LH00995:48:23YTGFLT4:4:2112:8904:6311,LH00995:48:23YTGFLT4:4:2143:37332:22677,LH00995:48:23YTGFLT4:4:2151:5077:26699,LH00995:48:23YTGFLT4:4:2173:41054:8553,LH00995:48:23YTGFLT4:4:2207:34137:29053,LH00995:48:23YTGFLT4:4:2214:29800:17394,LH00995:48:23YTGFLT4:4:2290:6590:3032,LH00995:48:23YTGFLT4:4:2302:37664:22803,LH00995:48:23YTGFLT4:4:2311:44783:25830,LH00995:48:23YTGFLT4:4:2317:16784:20351,LH00995:48:23YTGFLT4:4:2340:24841:8160,LH00995:48:23YTGFLT4:4:2340:24857:8160,LH00995:48:23YTGFLT4:4:2395:33886:3060,LH00995:48:23YTGFLT4:4:2416:28660:21668,LH00995:48:23YTGFLT4:4:2463:32308:8370,LH00995:48:23YTGFLT4:4:2474:26888:3802,LH00995:48:23YTGFLT4:5:1121:13620:21598,LH00995:48:23YTGFLT4:5:1142:37324:21906,LH00995:48:23YTGFLT4:5:1223:32252:26460,LH00995:48:23YTGFLT4:5:1257:45762:9141,LH00995:48:23YTGFLT4:5:1273:13095:8833,LH00995:48:23YTGFLT4:5:1286:37664:11201,LH00995:48:23YTGFLT4:5:1286:37672:11187,LH00995:48:23YTGFLT4:5:1332:19203:24485,LH00995:48:23YTGFLT4:5:1390:28377:6773,LH00995:48:23YTGFLT4:5:1391:8580:14718,LH00995:48:23YTGFLT4:5:1391:8588:14704,LH00995:48:23YTGFLT4:5:1391:8597:14718,LH00995:48:23YTGFLT4:5:1395:9753:1504,LH00995:48:23YTGFLT4:5:1414:26079:17030,LH00995:48:23YTGFLT4:5:1479:10959:11916,LH00995:48:23YTGFLT4:5:2112:43578:3228,LH00995:48:23YTGFLT4:5:2149:10449:17506,LH00995:48:23YTGFLT4:5:2150:48060:6143,LH00995:48:23YTGFLT4:5:2187:33894:7978,LH00995:48:23YTGFLT4:5:2226:5522:4265,LH00995:48:23YTGFLT4:5:2260:18135:11341,LH00995:48:23YTGFLT4:5:2260:18151:11341,LH00995:48:23YTGFLT4:5:2281:20715:2163,LH00995:48:23YTGFLT4:5:2281:20723:2177,LH00995:48:23YTGFLT4:5:2306:43877:12882,LH00995:48:23YTGFLT4:5:2327:10959:11019,LH00995:48:23YTGFLT4:5:2334:2934:18501,LH00995:48:23YTGFLT4:5:2362:4147:14298,LH00995:48:23YTGFLT4:5:2379:24793:11439,LH00995:48:23YTGFLT4:5:2402:35099:23041,LH00995:48:23YTGFLT4:5:2413:44678:15559,LH00995:48:23YTGFLT4:5:2413:44686:15545,LH00995:48:23YTGFLT4:5:2419:43214:28296,LH00995:48:23YTGFLT4:5:2430:37801:29459,LH00995:48:23YTGFLT4:5:2491:22835:23041,LH00995:48:23YTGFLT4:6:1112:2027:18081,LH00995:48:23YTGFLT4:6:1116:17851:19594,LH00995:48:23YTGFLT4:6:1117:4584:26544,LH00995:48:23YTGFLT4:6:1171:37098:22607,LH00995:48:23YTGFLT4:6:1256:37947:9730,LH00995:48:23YTGFLT4:6:1256:37955:9744,LH00995:48:23YTGFLT4:6:1297:1477:5386,LH00995:48:23YTGFLT4:6:1382:34468:26937,LH00995:48:23YTGFLT4:6:1395:37672:16091,LH00995:48:23YTGFLT4:6:1407:43990:17955,LH00995:48:23YTGFLT4:6:1496:43691:3368,LH00995:48:23YTGFLT4:6:2109:19866:6829,LH00995:48:23YTGFLT4:6:2131:39662:17801,LH00995:48:23YTGFLT4:6:2134:28878:19188,LH00995:48:23YTGFLT4:6:2144:42121:12840,LH00995:48:23YTGFLT4:6:2170:13540:7390,LH00995:48:23YTGFLT4:6:2229:41426:17016,LH00995:48:23YTGFLT4:6:2232:1194:24401,LH00995:48:23YTGFLT4:6:2264:11833:10654,LH00995:48:23YTGFLT4:6:2268:21702:6647,LH00995:48:23YTGFLT4:6:2279:21468:6465,LH00995:48:23YTGFLT4:6:2305:33619:14256,LH00995:48:23YTGFLT4:6:2335:8063:5498,LH00995:48:23YTGFLT4:6:2362:47105:4994,LH00995:48:23YTGFLT4:6:2380:52121:19118,LH00995:48:23YTGFLT4:1:1158:37098:24933,LH00995:48:23YTGFLT4:1:1158:37106:24947,LH00995:48:23YTGFLT4:1:2441:25537:3704,LH00995:48:23YTGFLT4:4:1478:33619:12658,LH00995:48:23YTGFLT4:5:1305:2796:12294,LH00995:48:23YTGFLT4:6:2146:22819:27665,LH00995:48:23YTGFLT4:6:2146:22835:27665

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140982475

CDS/splice-site

deletion/read-through

987

604

medium

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(86%)

ENSG00000204967.12

ENSG00000243232.6

ENST00000672575.1

ENST00000289269.7

downstream

upstream

duplicates(3)

GTGCTCCAGTGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGAGGCCGAGGGTGTGCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTG

CSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|lcaprggwhstgwsrra*

LH00995:48:23YTGFLT4:4:1482:37154:9365,LH00995:48:23YTGFLT4:1:1158:37098:24933,LH00995:48:23YTGFLT4:1:1158:37106:24947,LH00995:48:23YTGFLT4:4:1478:33619:12658,LH00995:48:23YTGFLT4:6:2146:22819:27665,LH00995:48:23YTGFLT4:6:2146:22835:27665

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

987

587

high

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000204967.12

ENSG00000248383.5

ENST00000672575.1

ENST00000253807.3

downstream

upstream

duplicates(143),low_entropy(1),mismatches(14)

AVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140982475

CDS/splice-site

deletion/read-through

987

604

medium

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(86%)

ENSG00000204967.12

ENSG00000248383.5

ENST00000672575.1

ENST00000253807.3

downstream

upstream

duplicates(3)

CSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|lcaprggwhstgwsrra*

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

987

587

high

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000204967.12

ENSG00000239389.8

ENST00000672575.1

ENST00000289272.3

downstream

upstream

duplicates(143),low_entropy(1),mismatches(14)

AVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140982475

CDS/splice-site

deletion/read-through

987

604

medium

out-of-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(86%)

ENSG00000204967.12

ENSG00000239389.8

ENST00000672575.1

ENST00000289272.3

downstream

upstream

duplicates(3)

CSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|lcaprggwhstgwsrra*

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000242419.5

ENST00000622527.1

ENST00000306593.1

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

CTCACAATCAGCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATC

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

LH00995:48:23YTGFLT4:1:1103:1898:12952,LH00995:48:23YTGFLT4:1:1275:32737:15951,LH00995:48:23YTGFLT4:1:1286:32972:1084,LH00995:48:23YTGFLT4:1:1317:36944:13849,LH00995:48:23YTGFLT4:1:1411:48383:10626,LH00995:48:23YTGFLT4:1:1464:50244:24022,LH00995:48:23YTGFLT4:1:2145:33797:20421,LH00995:48:23YTGFLT4:1:2186:44338:17324,LH00995:48:23YTGFLT4:1:2237:38926:6269,LH00995:48:23YTGFLT4:1:2272:5482:5792,LH00995:48:23YTGFLT4:1:2282:24647:27553,LH00995:48:23YTGFLT4:1:2359:19785:2205,LH00995:48:23YTGFLT4:1:2445:51886:17759,LH00995:48:23YTGFLT4:2:1172:36410:20211,LH00995:48:23YTGFLT4:2:1189:47178:19692,LH00995:48:23YTGFLT4:2:1279:51328:10739,LH00995:48:23YTGFLT4:2:1402:8022:22887,LH00995:48:23YTGFLT4:2:1435:12172:14522,LH00995:48:23YTGFLT4:2:1449:49807:11467,LH00995:48:23YTGFLT4:2:2152:7577:20687,LH00995:48:23YTGFLT4:2:2174:24704:2962,LH00995:48:23YTGFLT4:2:2175:39759:26572,LH00995:48:23YTGFLT4:2:2240:45527:18543,LH00995:48:23YTGFLT4:2:2313:8605:27623,LH00995:48:23YTGFLT4:2:2435:31200:13261,LH00995:48:23YTGFLT4:2:2435:31952:13219,LH00995:48:23YTGFLT4:3:1134:31491:28730,LH00995:48:23YTGFLT4:3:1179:12472:7922,LH00995:48:23YTGFLT4:3:1405:38594:21276,LH00995:48:23YTGFLT4:3:1434:15942:9618,LH00995:48:23YTGFLT4:3:1469:26532:9323,LH00995:48:23YTGFLT4:3:2328:37227:1757,LH00995:48:23YTGFLT4:3:2332:29622:26699,LH00995:48:23YTGFLT4:3:2473:8313:26614,LH00995:48:23YTGFLT4:4:1111:50487:1687,LH00995:48:23YTGFLT4:4:1311:2853:15979,LH00995:48:23YTGFLT4:4:2174:20901:18067,LH00995:48:23YTGFLT4:4:2352:49500:3340,LH00995:48:23YTGFLT4:4:2390:39015:9365,LH00995:48:23YTGFLT4:4:2390:39023:9379,LH00995:48:23YTGFLT4:4:2390:6259:14200,LH00995:48:23YTGFLT4:5:1147:33740:1126,LH00995:48:23YTGFLT4:5:1216:40423:21920,LH00995:48:23YTGFLT4:5:1216:40431:21934,LH00995:48:23YTGFLT4:5:1325:16840:29529,LH00995:48:23YTGFLT4:5:1410:3840:9085,LH00995:48:23YTGFLT4:5:1411:12504:26530,LH00995:48:23YTGFLT4:5:2136:48246:25690,LH00995:48:23YTGFLT4:5:2183:34509:14172,LH00995:48:23YTGFLT4:5:2183:34517:14158,LH00995:48:23YTGFLT4:5:2317:48812:26867,LH00995:48:23YTGFLT4:6:1132:46005:21920,LH00995:48:23YTGFLT4:6:1143:35285:22635,LH00995:48:23YTGFLT4:6:1149:31855:19412,LH00995:48:23YTGFLT4:6:1152:47412:7768,LH00995:48:23YTGFLT4:6:1177:4649:17464,LH00995:48:23YTGFLT4:6:1222:23943:15545,LH00995:48:23YTGFLT4:6:1231:5967:23672,LH00995:48:23YTGFLT4:6:1274:47412:13289,LH00995:48:23YTGFLT4:6:1401:43901:29095,LH00995:48:23YTGFLT4:6:1427:6938:16890,LH00995:48:23YTGFLT4:6:1481:38594:12728,LH00995:48:23YTGFLT4:6:2122:24542:17198,LH00995:48:23YTGFLT4:6:2238:18393:1252,LH00995:48:23YTGFLT4:6:2243:23320:21332,LH00995:48:23YTGFLT4:6:2271:50697:2191,LH00995:48:23YTGFLT4:6:2271:50713:2191,LH00995:48:23YTGFLT4:6:2307:40414:5568,LH00995:48:23YTGFLT4:6:2321:19971:25732,LH00995:48:23YTGFLT4:6:2321:49791:13765,LH00995:48:23YTGFLT4:6:2329:32745:20281,LH00995:48:23YTGFLT4:6:2340:27592:8581,LH00995:48:23YTGFLT4:6:2350:45495:25914,LH00995:48:23YTGFLT4:1:1169:6089:29655,LH00995:48:23YTGFLT4:1:1210:50915:20954,LH00995:48:23YTGFLT4:1:1338:37793:13443,LH00995:48:23YTGFLT4:1:1435:8451:15363,LH00995:48:23YTGFLT4:1:1469:48917:26544,LH00995:48:23YTGFLT4:1:2113:26136:20603,LH00995:48:23YTGFLT4:1:2140:38125:8861,LH00995:48:23YTGFLT4:1:2266:38983:5162,LH00995:48:23YTGFLT4:1:2374:44193:11579,LH00995:48:23YTGFLT4:1:2402:25699:19174,LH00995:48:23YTGFLT4:1:2404:37907:25746,LH00995:48:23YTGFLT4:1:2409:30723:24821,LH00995:48:23YTGFLT4:1:2490:31645:14256,LH00995:48:23YTGFLT4:2:1121:23935:4433,LH00995:48:23YTGFLT4:2:1143:3459:29333,LH00995:48:23YTGFLT4:2:1186:50721:6661,LH00995:48:23YTGFLT4:2:1348:9616:9702,LH00995:48:23YTGFLT4:2:1379:8370:11607,LH00995:48:23YTGFLT4:2:1432:14575:3774,LH00995:48:23YTGFLT4:2:1447:50122:7670,LH00995:48:23YTGFLT4:2:2290:17593:25592,LH00995:48:23YTGFLT4:2:2305:40520:2079,LH00995:48:23YTGFLT4:2:2305:40520:2079,LH00995:48:23YTGFLT4:2:2359:47550:14956,LH00995:48:23YTGFLT4:2:2367:22455:29025,LH00995:48:23YTGFLT4:2:2378:26831:20911,LH00995:48:23YTGFLT4:2:2378:26848:20911,LH00995:48:23YTGFLT4:2:2410:35674:18431,LH00995:48:23YTGFLT4:2:2410:35690:18431,LH00995:48:23YTGFLT4:3:1192:31863:19202,LH00995:48:23YTGFLT4:3:1198:36450:9211,LH00995:48:23YTGFLT4:3:1222:29881:9519,LH00995:48:23YTGFLT4:3:1232:15036:6507,LH00995:48:23YTGFLT4:3:1237:37979:21780,LH00995:48:23YTGFLT4:3:1246:32090:13597,LH00995:48:23YTGFLT4:3:1424:14413:3634,LH00995:48:23YTGFLT4:3:1474:13823:22257,LH00995:48:23YTGFLT4:3:1474:13839:22257,LH00995:48:23YTGFLT4:3:2112:13806:11131,LH00995:48:23YTGFLT4:3:2170:8451:7516,LH00995:48:23YTGFLT4:3:2182:45592:16273,LH00995:48:23YTGFLT4:3:2281:46336:5484,LH00995:48:23YTGFLT4:3:2356:38885:21668,LH00995:48:23YTGFLT4:4:1170:8750:4251,LH00995:48:23YTGFLT4:4:1186:48157:14466,LH00995:48:23YTGFLT4:4:1201:43068:9435,LH00995:48:23YTGFLT4:4:1278:44743:9982,LH00995:48:23YTGFLT4:4:1319:29113:5750,LH00995:48:23YTGFLT4:4:1349:48464:3564,LH00995:48:23YTGFLT4:4:1384:27244:11565,LH00995:48:23YTGFLT4:4:1487:16662:13023,LH00995:48:23YTGFLT4:4:2160:18830:17058,LH00995:48:23YTGFLT4:4:2313:4932:1589,LH00995:48:23YTGFLT4:4:2336:11444:20099,LH00995:48:23YTGFLT4:4:2336:11485:20561,LH00995:48:23YTGFLT4:4:2356:14373:7179,LH00995:48:23YTGFLT4:4:2359:4543:7698,LH00995:48:23YTGFLT4:4:2449:3217:27595,LH00995:48:23YTGFLT4:5:1181:51093:25914,LH00995:48:23YTGFLT4:5:1281:40884:9940,LH00995:48:23YTGFLT4:5:1358:8783:23560,LH00995:48:23YTGFLT4:5:1462:7173:18585,LH00995:48:23YTGFLT4:5:2180:15206:26278,LH00995:48:23YTGFLT4:5:2190:11622:28338,LH00995:48:23YTGFLT4:5:2197:18450:12700,LH00995:48:23YTGFLT4:5:2430:50745:7235,LH00995:48:23YTGFLT4:6:1122:41976:10795,LH00995:48:23YTGFLT4:6:1229:6639:16400,LH00995:48:23YTGFLT4:6:1291:39743:6395,LH00995:48:23YTGFLT4:6:1428:45794:6339,LH00995:48:23YTGFLT4:6:1476:29493:10837,LH00995:48:23YTGFLT4:6:2238:26678:11986,LH00995:48:23YTGFLT4:1:2193:34331:20057,LH00995:48:23YTGFLT4:2:2309:51619:19174

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253873.6

ENST00000622527.1

ENST00000398587.7

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000240764.4

ENST00000622527.1

ENST00000252087.3

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000254122.3

ENST00000622527.1

ENST00000398594.4

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253767.3

ENST00000622527.1

ENST00000398604.3

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253846.2

ENST00000622527.1

ENST00000398610.2

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000261934.2

ENST00000622527.1

ENST00000573521.1

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253305.2

ENST00000622527.1

ENST00000520790.1

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000253159.3

ENST00000622527.1

ENST00000252085.4

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

281

4723

high

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253910.2

ENSG00000240184.7

ENST00000622527.1

ENST00000308177.5

downstream

upstream

duplicates(60),low_entropy(1),mismatches(1),multimappers(1)

SQSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAM

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2802

242

high

out-of-frame

SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(42)

TCTTTACCATCGG___GGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCCTGGGTGGAGC...___CTCTGGCAGGCTGCCCTGAGCACGCTCAACC

LYHRGFTEDQLVLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:48:23YTGFLT4:1:1184:25796:23238,LH00995:48:23YTGFLT4:1:1184:25812:23238,LH00995:48:23YTGFLT4:1:1249:33360:14648,LH00995:48:23YTGFLT4:1:1407:32899:27385,LH00995:48:23YTGFLT4:1:1440:45859:14354,LH00995:48:23YTGFLT4:1:2488:45608:4475,LH00995:48:23YTGFLT4:2:1262:35067:22761,LH00995:48:23YTGFLT4:2:1262:35075:22775,LH00995:48:23YTGFLT4:2:1262:35083:22761,LH00995:48:23YTGFLT4:2:1262:35083:22789,LH00995:48:23YTGFLT4:2:1262:35091:22747,LH00995:48:23YTGFLT4:2:1281:46005:22509,LH00995:48:23YTGFLT4:2:1281:46013:22495,LH00995:48:23YTGFLT4:2:1281:46013:22523,LH00995:48:23YTGFLT4:2:1281:46021:22509,LH00995:48:23YTGFLT4:2:1285:37170:3508,LH00995:48:23YTGFLT4:2:1345:27365:8889,LH00995:48:23YTGFLT4:2:2490:15327:13681,LH00995:48:23YTGFLT4:3:1135:40908:25507,LH00995:48:23YTGFLT4:3:1136:39055:3186,LH00995:48:23YTGFLT4:3:1195:46466:21206,LH00995:48:23YTGFLT4:3:1284:27786:23798,LH00995:48:23YTGFLT4:3:1355:30294:26797,LH00995:48:23YTGFLT4:3:1413:11444:29207,LH00995:48:23YTGFLT4:3:1413:11452:29193,LH00995:48:23YTGFLT4:3:1426:14988:15531,LH00995:48:23YTGFLT4:4:1221:30270:18571,LH00995:48:23YTGFLT4:4:1289:8459:10640,LH00995:48:23YTGFLT4:4:2156:46239:6689,LH00995:48:23YTGFLT4:4:2156:46247:6675,LH00995:48:23YTGFLT4:4:2196:16581:14816,LH00995:48:23YTGFLT4:4:2204:47784:10963,LH00995:48:23YTGFLT4:4:2275:52096:27988,LH00995:48:23YTGFLT4:4:2281:17771:7628,LH00995:48:23YTGFLT4:5:1123:1235:20463,LH00995:48:23YTGFLT4:5:1335:46781:27105,LH00995:48:23YTGFLT4:5:1335:46789:27119,LH00995:48:23YTGFLT4:5:1378:37348:10458,LH00995:48:23YTGFLT4:5:1431:11185:6311,LH00995:48:23YTGFLT4:5:2339:43723:25592,LH00995:48:23YTGFLT4:5:2358:49572:9968,LH00995:48:23YTGFLT4:5:2404:30270:8959,LH00995:48:23YTGFLT4:5:2404:30286:8959,LH00995:48:23YTGFLT4:5:2429:2796:6493,LH00995:48:23YTGFLT4:5:2485:3613:27077,LH00995:48:23YTGFLT4:6:1155:45819:11257,LH00995:48:23YTGFLT4:6:1202:23272:3200,LH00995:48:23YTGFLT4:6:1202:23288:3200,LH00995:48:23YTGFLT4:6:1293:27608:8497,LH00995:48:23YTGFLT4:6:1364:28490:8959,LH00995:48:23YTGFLT4:6:1395:5288:6269,LH00995:48:23YTGFLT4:6:1435:16072:2275,LH00995:48:23YTGFLT4:6:2129:28126:22397,LH00995:48:23YTGFLT4:6:2372:34460:3410,LH00995:48:23YTGFLT4:1:1317:9559:21318,LH00995:48:23YTGFLT4:1:1320:16767:26600,LH00995:48:23YTGFLT4:1:1402:35213:19847,LH00995:48:23YTGFLT4:1:2139:13200:3354,LH00995:48:23YTGFLT4:1:2215:24008:6773,LH00995:48:23YTGFLT4:1:2256:2133:26979,LH00995:48:23YTGFLT4:1:2388:20764:28254,LH00995:48:23YTGFLT4:1:2421:21799:3088,LH00995:48:23YTGFLT4:1:2421:21807:3074,LH00995:48:23YTGFLT4:2:1129:31952:14424,LH00995:48:23YTGFLT4:2:2116:5692:16750,LH00995:48:23YTGFLT4:2:2157:25869:27988,LH00995:48:23YTGFLT4:2:2225:11792:9576,LH00995:48:23YTGFLT4:2:2253:18167:3326,LH00995:48:23YTGFLT4:2:2315:6687:24330,LH00995:48:23YTGFLT4:2:2432:2011:14886,LH00995:48:23YTGFLT4:3:1105:32697:5400,LH00995:48:23YTGFLT4:3:1138:31216:22425,LH00995:48:23YTGFLT4:3:1142:31572:26488,LH00995:48:23YTGFLT4:3:1282:31613:10725,LH00995:48:23YTGFLT4:3:1347:4891:21948,LH00995:48:23YTGFLT4:3:1376:21168:19062,LH00995:48:23YTGFLT4:3:1396:18580:10094,LH00995:48:23YTGFLT4:3:2440:31289:12378,LH00995:48:23YTGFLT4:4:1118:50802:28044,LH00995:48:23YTGFLT4:4:1230:26362:19174,LH00995:48:23YTGFLT4:4:1236:23482:7544,LH00995:48:23YTGFLT4:4:1289:16581:6549,LH00995:48:23YTGFLT4:4:1354:13774:7964,LH00995:48:23YTGFLT4:4:1436:32268:3648,LH00995:48:23YTGFLT4:4:1460:44613:15447,LH00995:48:23YTGFLT4:4:2372:4430:15349,LH00995:48:23YTGFLT4:4:2435:49451:14326,LH00995:48:23YTGFLT4:5:1108:47194:14564,LH00995:48:23YTGFLT4:5:1151:33053:22663,LH00995:48:23YTGFLT4:5:1163:26427:26012,LH00995:48:23YTGFLT4:5:1163:26435:25998,LH00995:48:23YTGFLT4:5:1183:39330:23868,LH00995:48:23YTGFLT4:5:1266:46838:22747,LH00995:48:23YTGFLT4:5:1266:46854:22747,LH00995:48:23YTGFLT4:5:1326:19963:19833,LH00995:48:23YTGFLT4:5:1443:44427:5708,LH00995:48:23YTGFLT4:5:2179:38691:3536,LH00995:48:23YTGFLT4:5:2211:43707:28450,LH00995:48:23YTGFLT4:5:2246:24275:24975,LH00995:48:23YTGFLT4:5:2266:50972:28926,LH00995:48:23YTGFLT4:5:2283:30213:20911,LH00995:48:23YTGFLT4:6:1104:16420:16862,LH00995:48:23YTGFLT4:6:1265:36272:11565,LH00995:48:23YTGFLT4:6:1335:6121:23266,LH00995:48:23YTGFLT4:6:1427:38813:3999,LH00995:48:23YTGFLT4:6:2118:6930:8805,LH00995:48:23YTGFLT4:6:2143:8799:22579,LH00995:48:23YTGFLT4:6:2191:10401:28828,LH00995:48:23YTGFLT4:6:2387:49726:24863,LH00995:48:23YTGFLT4:6:2387:49734:24849,LH00995:48:23YTGFLT4:1:2393:45010:11593,LH00995:48:23YTGFLT4:1:2393:45026:11593,LH00995:48:23YTGFLT4:1:2473:11266:4013,LH00995:48:23YTGFLT4:4:2378:21743:16526

STX16

NPEPL1

+/+

chr20:58671297

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3192

242

low

in-frame

Syntaxin(99%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525817.5

downstream

upstream

TGGATGATGGAGACGATAACACTCTTTACCATCGG___GGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAG___CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCCAACCCCACGGACAGCTGTCCCCTCTACCTGAACTACGCCACCGTGGCTGCCCTGCCCTGCAGGGTGAGCCGGCACAACAGCCC

DDGDDNTLYHRGFTEDQLVLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQ|agyeeetqnnrsglwnyMELWQAALSTLNPNPTDSCPLYLNYATVAALPCRVSRHNS

LH00995:48:23YTGFLT4:5:1286:23005:4419,LH00995:48:23YTGFLT4:1:2473:11266:4013

STX16

NPEPL1

+/+

chr20:58673711

chr20:58693737

CDS/splice-site

deletion/read-through

2802

4660

low

in-frame

SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(74%)

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

GTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTtCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|CTCTGGCAGGCTGCCCTGAGCACGC

VLVEQNTLMVEEREREIRQIVQfISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|LWQAALST

LH00995:48:23YTGFLT4:1:2214:12099:1897

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

318

high

|Sec23-binding_domain_of_Sec16(100%),Vesicle_coat_trafficking_protein_Sec16_mid-region(100%)

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

duplicates(13),mismappers(4)

GCTCTTGAGCATTGGGCCCGTACCCAGCCTGG___GTAATATAGCTGCTGCTGGAAGTGACGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTGGGAGCCCCCAGCCACAGCAGGAGCCCAGGGCA

LH00995:48:23YTGFLT4:1:1121:32672:2976,LH00995:48:23YTGFLT4:1:1123:3581:11635,LH00995:48:23YTGFLT4:1:1316:7229:1589,LH00995:48:23YTGFLT4:1:1369:18693:3957,LH00995:48:23YTGFLT4:1:1369:18709:3957,LH00995:48:23YTGFLT4:1:1369:18725:3957,LH00995:48:23YTGFLT4:1:1470:13216:16722,LH00995:48:23YTGFLT4:1:2382:26856:20561,LH00995:48:23YTGFLT4:1:2460:7707:12840,LH00995:48:23YTGFLT4:2:1325:1356:25970,LH00995:48:23YTGFLT4:2:1397:17042:12196,LH00995:48:23YTGFLT4:2:1397:17059:12196,LH00995:48:23YTGFLT4:2:2105:37308:17254,LH00995:48:23YTGFLT4:3:1132:37834:3592,LH00995:48:23YTGFLT4:3:2160:20359:22761,LH00995:48:23YTGFLT4:3:2224:37462:11944,LH00995:48:23YTGFLT4:3:2224:37470:11958,LH00995:48:23YTGFLT4:3:2224:37478:11972,LH00995:48:23YTGFLT4:3:2313:2529:12028,LH00995:48:23YTGFLT4:3:2481:24599:3957,LH00995:48:23YTGFLT4:4:1335:5352:19720,LH00995:48:23YTGFLT4:4:1441:44726:18950,LH00995:48:23YTGFLT4:4:2146:31524:22957,LH00995:48:23YTGFLT4:4:2260:7254:22817,LH00995:48:23YTGFLT4:4:2293:16080:3887,LH00995:48:23YTGFLT4:4:2467:36183:10038,LH00995:48:23YTGFLT4:5:1430:51546:15236,LH00995:48:23YTGFLT4:5:1461:23717:16329,LH00995:48:23YTGFLT4:5:2241:7828:25045,LH00995:48:23YTGFLT4:5:2328:38602:13527,LH00995:48:23YTGFLT4:5:2470:12642:13961,LH00995:48:23YTGFLT4:6:1286:15869:2037,LH00995:48:23YTGFLT4:6:1286:15878:2023,LH00995:48:23YTGFLT4:6:1323:51538:8525,LH00995:48:23YTGFLT4:6:2283:15489:4433,LH00995:48:23YTGFLT4:6:2323:48691:6171,LH00995:48:23YTGFLT4:6:2339:29226:4853,LH00995:48:23YTGFLT4:2:1293:29906:10290

CRYZL2P

SEC16B

-/-

chr1:178022440

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

318

low

|Sec23-binding_domain_of_Sec16(100%),Vesicle_coat_trafficking_protein_Sec16_mid-region(100%)

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

ATGGTTTTCAAGCTGGACGAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCG

LH00995:48:23YTGFLT4:1:2218:38586:3046,LH00995:48:23YTGFLT4:2:1416:2141:16091

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177958975

exon/splice-site

CDS/splice-site

deletion/read-through

399

low

|Sec23-binding_domain_of_Sec16(100%),Vesicle_coat_trafficking_protein_Sec16_mid-region(46%)

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

duplicates(1)

AGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GGAAGATGTACATAAGGTGGATATTATGACGTTTTGCCAGCAGAAAGCAGCTCAGAGCTGCAAATCTGAGACACTGGGGAGCAGAGACTCAGCTCTACTGTGGCAGCTCTTGGTTCTCCTTTGTCGCCAGAATGGG___TCCATGGTGGGGTCTGACATCGCTGAGCTGCTAATGCAAGACTGCAAGAAGCTGG

LH00995:48:23YTGFLT4:2:2202:42008:3368,LH00995:48:23YTGFLT4:5:1393:13402:24947

KANSL1

ARL17B

-/-

chr17:46094558

chr17:46352927

exon/splice-site

CDS

duplication

2078

2190

high

|ADP-ribosylation_factor-like_protein_17(100%),ADP-ribosylation_factor_family(46%)

ENSG00000120071.15

ENSG00000228696.10

ENST00000638269.1

ENST00000570618.5

upstream

downstream

duplicates(18)

CTTGAGGTGCAGTGAACAGGCATTTGATTCAGATGTCACTGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT___GAGACGCAGGTCAGAATGGAAATGGGCTGCAGACCGGGCAGCTATTGTCAGCCGCTGGAACTGGCTTCAGGCTCATGTTTCTGACTTGGAATATCGAATTCGTCAGCAAACAGACATTTACAAACAGATACGTGCTAATAAGGT|TCTGTGTGGAGACAGTAGAATATAAAAATAACACCTTCGCTGTCTGGGATGTTGGCAGCCACTTCAAAATCAGACCTCTGTGGCAGCATTTTTTCCAGAACACAAAAG___GTGCCAGAAGCCCAGGAAGCACACATCAAGGCTCACTTGCCA...___AGCTATCAGCTTCCCAGTTTGCACAATTCATCAAGAAATTATGCGGGGTCACTGGCA

LH00995:48:23YTGFLT4:2:1383:42825:3074,LH00995:48:23YTGFLT4:1:1380:1720:14774,LH00995:48:23YTGFLT4:1:1380:1728:14760,LH00995:48:23YTGFLT4:1:1380:1736:14774,LH00995:48:23YTGFLT4:1:1460:44945:25465,LH00995:48:23YTGFLT4:1:2441:24356:17605,LH00995:48:23YTGFLT4:1:2441:24364:17591,LH00995:48:23YTGFLT4:1:2472:10093:2934,LH00995:48:23YTGFLT4:1:2472:10101:2920,LH00995:48:23YTGFLT4:2:1158:3799:17535,LH00995:48:23YTGFLT4:2:1158:3807:17549,LH00995:48:23YTGFLT4:2:1174:11290:2149,LH00995:48:23YTGFLT4:2:1174:11307:2149,LH00995:48:23YTGFLT4:2:1191:22616:11789,LH00995:48:23YTGFLT4:2:1191:22625:11775,LH00995:48:23YTGFLT4:2:1191:22641:11775,LH00995:48:23YTGFLT4:2:1264:45754:9015,LH00995:48:23YTGFLT4:2:1377:22875:9043,LH00995:48:23YTGFLT4:2:1377:22892:9043,LH00995:48:23YTGFLT4:2:2179:2618:25802,LH00995:48:23YTGFLT4:3:1287:49330:5820,LH00995:48:23YTGFLT4:3:1287:49338:5834,LH00995:48:23YTGFLT4:3:1340:43675:12981,LH00995:48:23YTGFLT4:3:2264:44848:25774,LH00995:48:23YTGFLT4:3:2268:4244:6899,LH00995:48:23YTGFLT4:3:2452:45819:11789,LH00995:48:23YTGFLT4:3:2452:45827:11803,LH00995:48:23YTGFLT4:4:1213:26014:17170,LH00995:48:23YTGFLT4:4:1250:41927:29207,LH00995:48:23YTGFLT4:4:2187:9761:27105,LH00995:48:23YTGFLT4:4:2290:8265:18431,LH00995:48:23YTGFLT4:4:2290:8273:18445,LH00995:48:23YTGFLT4:5:1167:30132:4713,LH00995:48:23YTGFLT4:5:1224:29396:25381,LH00995:48:23YTGFLT4:5:2408:43626:1042,LH00995:48:23YTGFLT4:5:2408:43634:1028,LH00995:48:23YTGFLT4:5:2495:3597:1182,LH00995:48:23YTGFLT4:6:2322:17374:17114,LH00995:48:23YTGFLT4:6:2346:11412:1743

KANSL1

ARL17B

-/-

chr17:46094560

chr17:46339774

CDS/splice-site

duplication

2078

2119

medium

out-of-frame

|ADP-ribosylation_factor-like_protein_17(100%),ADP-ribosylation_factor_family(3%)

ENSG00000120071.15

ENSG00000228696.10

ENST00000574590.6

ENST00000572991.5

upstream

downstream

duplicates(3)

GCTGACTCGAAAGGCTGAAGCTGCCTTGAGAAAAGCTGCCAGTGAGACCACCACTTCAGAGGGACTTAGCAACTTTCTGAAAAGCAATTCAATTTCAGAAGAATTGGAGAGATTTACAGCTAGTGGCATAGCCAACTTGAGGTGCAGTGAA...ACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT___GAGACGCAGGTCAGAATGGAAATGGGCTGCAGACCGGGCAGCTATTGTCAGCCGCTGGAACTGGCTTCAGGCTCATGTTTCTGACTTGGAATATCGAATTCGTCAGCAAACAGACATTTACAAACAGATACGTGCTAATAAG|GTGCCAGAAGCCCAGGAAGCACACATCAAGGCTCACTTGCCAGCGGGGTGCTGCCAATAAAATGTAGTCACGTGGAATTTGGAATGTGGAAAGGAGGTAGAAGTCATCCTTTCCTCCCCCATAGCAGCAGGTGTGCAGGCTCTGGTGGTCAGCTGGACTCCATACTCCCCC

LTRADPEQRHVPLRRRSEWKWAADRAAIVSRWNWLQAHVSDLEYRIRQQTDIYKQIRANK|vpeaqeahikahlpagccq*

LH00995:48:23YTGFLT4:6:1496:8378:7670,LH00995:48:23YTGFLT4:2:1264:45754:9015,LH00995:48:23YTGFLT4:3:2264:44848:25774,LH00995:48:23YTGFLT4:3:2452:45819:11789,LH00995:48:23YTGFLT4:3:2452:45827:11803,LH00995:48:23YTGFLT4:4:1213:26014:17170,LH00995:48:23YTGFLT4:5:1224:29396:25381,LH00995:48:23YTGFLT4:6:2346:11412:1743

ARL17B

KANSL1

-/-

chr17:46352820

chr17:46094701

CDS/splice-site

deletion/read-through

2726

2060

low

out-of-frame

ADP-ribosylation_factor_family(96%)|PEHE_domain(100%)

ENSG00000228696.10

ENSG00000120071.15

ENST00000570618.5

ENST00000574590.6

upstream

downstream

duplicates(6),mismatches(1)

TTCTGTGTGGAGACAGTAGAATATAAAAATAACACCTTCGCTGTCTGGGATGTTGGCAGCCACTTCAAAATCAGACCTCTGTGGCAGCATTTTTTCCAGAACACAAAAG|GAGACGCAGGTCAGAATGGAAATGGGCTGCAGACCGGGCAGCTATTGTCAGCCGCTGGAACTGGCTTCAGGCTCATGTTTCTGACTTGGAATATCGAATTCGTCAGCAAACAGACATTTACAAACAGATACGT

FCVETVEYKNNTFAVWDVGSHFKIRPLWQHFFQNTK|gdagqngnglqtgqllsaagtgfrlmfltwniefvskqtftnry

LH00995:48:23YTGFLT4:3:2135:26435:11341,LH00995:48:23YTGFLT4:5:1289:49281:1757,LH00995:48:23YTGFLT4:5:2248:37955:27707,LH00995:48:23YTGFLT4:5:2248:37963:27721,LH00995:48:23YTGFLT4:5:2317:13572:28072,LH00995:48:23YTGFLT4:1:1350:15481:10444,LH00995:48:23YTGFLT4:3:1266:21807:9071,LH00995:48:23YTGFLT4:3:1266:21816:9085,LH00995:48:23YTGFLT4:3:1302:27988:18684,LH00995:48:23YTGFLT4:3:1429:7245:27343,LH00995:48:23YTGFLT4:4:1131:40180:15839,LH00995:48:23YTGFLT4:4:1230:12099:23139,LH00995:48:23YTGFLT4:5:1255:42380:12028,LH00995:48:23YTGFLT4:5:2195:37688:6114,LH00995:48:23YTGFLT4:6:1229:16897:14214

ARL17B

KANSL1

-/-

chr17:46352820

chr17:46172232

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2726

952

low

out-of-frame

ADP-ribosylation_factor_family(96%)|PEHE_domain(100%)

ENSG00000228696.10

ENSG00000120071.15

ENST00000570618.5

ENST00000574590.6

upstream

downstream

GGTTTCTGTGTGGAGACAGTAGAATATAAAAATAACACCTTCGCTGTCTGGGATGTTGGCAGCCACTTCAAAATCAGACCTCTGTGGCAGCATTTTTTCCAGAACACAAAAG|TCTGTTCTCTGGGGAGGCAGTAAGGGGCC

GFCVETVEYKNNTFAVWDVGSHFKIRPLWQHFFQNTK|vcslgrq*

LH00995:48:23YTGFLT4:4:2310:20003:13121

KANSL1

ARL17B

-/-

chr17:46170855

chr17:46299665

CDS/splice-site

duplication

2400

1172

low

out-of-frame

|ADP-ribosylation_factor_family(0%)

ENSG00000120071.15

ENSG00000228696.10

ENST00000574590.6

ENST00000570618.5

upstream

downstream

CAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT|AGCTATCAGCTTCCCAGTTTGCACAATTCATCAAGAAATTATGCGGGGTCACTGGCACAAATGATGAGGCATCTCCTGGAAGCTTAACTTCTTATCCATCCCATCTCTTGGACAGATGATGCCAGTTAATTACTTTGAATGTAAGTATTTTATCTAAAAGCAC

GGESDIEEEELTRADPEQRHVPl|aisfpvctihqeimrghwhk*

LH00995:48:23YTGFLT4:2:2216:51749:5246

TLK2

FAM157A

+/+

chr17:62560126

chr3:198180755

CDS/splice-site

exon/splice-site

translocation

1076

639

high

out-of-frame

ENSG00000146872.18

ENSG00000236438.7

ENST00000582809.5

ENST00000634862.1

downstream

upstream

duplicates(3),mismatches(6),multimappers(3)

GCCAACTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAAACTCAgCTGCCTCTGTCCCTCTGGGCACGCCTCATGCCAGGTGCATCTGTGGACAGGGGCCATGCTCCTGGGCTTCCAAAGTTGGAGAAAGCTGCCAGGCTCAG___GTCTGAAGGCCAG

ANCDLRRQIDEQQKMLEKYKEqLNRCVTMSKKLLIEK|mmiiphllrdkdqrattatgprtrqcwgtenegvqlwpsqssggdetqlplslwarlmpgasvdrghapglpklekaarlrseg

LH00995:48:23YTGFLT4:1:1358:20715:5974,LH00995:48:23YTGFLT4:1:1443:16743:16217,LH00995:48:23YTGFLT4:2:1481:7423:29361,LH00995:48:23YTGFLT4:3:1230:40916:2934,LH00995:48:23YTGFLT4:3:1448:3751:6577,LH00995:48:23YTGFLT4:4:1314:30925:28926,LH00995:48:23YTGFLT4:4:1352:15691:26026,LH00995:48:23YTGFLT4:4:1395:49249:16077,LH00995:48:23YTGFLT4:5:1449:17018:24176,LH00995:48:23YTGFLT4:5:2133:45147:9562,LH00995:48:23YTGFLT4:5:2393:33692:7292,LH00995:48:23YTGFLT4:5:2393:33700:7306,LH00995:48:23YTGFLT4:6:1364:22746:16722,LH00995:48:23YTGFLT4:6:2324:16889:11313,LH00995:48:23YTGFLT4:6:2324:16897:11299,LH00995:48:23YTGFLT4:6:2379:5668:23378,LH00995:48:23YTGFLT4:1:1491:25529:10556,LH00995:48:23YTGFLT4:3:1101:23401:9730,LH00995:48:23YTGFLT4:3:2129:3791:19034

AC211476.4

CCDC146

+/+

chr7:73069531

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

1608

362

high

ENSG00000277125.1

ENSG00000135205.15

ENST00000275546.4

ENST00000285871.5

downstream

upstream

duplicates(7),mismatches(5),multimappers(1)

TGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAA___TGATGTCACCATTTCTACCTGCCACGTATCGGCGAAGGTTGGGACTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CTTAAAGGAAGAAAAAATCATtATAGTAAAA

LH00995:48:23YTGFLT4:3:2181:18685:12406,LH00995:48:23YTGFLT4:5:1240:43286:18193,LH00995:48:23YTGFLT4:5:1240:43286:18193,LH00995:48:23YTGFLT4:5:1240:43286:18193,LH00995:48:23YTGFLT4:5:1339:6275:23195,LH00995:48:23YTGFLT4:5:2173:3144:9085,LH00995:48:23YTGFLT4:5:2173:3144:9085,LH00995:48:23YTGFLT4:5:2173:3144:9085,LH00995:48:23YTGFLT4:6:1189:26039:19762,LH00995:48:23YTGFLT4:6:1189:26039:19762,LH00995:48:23YTGFLT4:6:1189:26039:19762,LH00995:48:23YTGFLT4:1:1310:51821:1392,LH00995:48:23YTGFLT4:1:1310:52121:6227,LH00995:48:23YTGFLT4:2:1398:42777:17563,LH00995:48:23YTGFLT4:3:1293:37478:14073,LH00995:48:23YTGFLT4:3:1293:37486:14087,LH00995:48:23YTGFLT4:4:1198:29266:15012

AC211476.4

CCDC146

+/+

chr7:73069531

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

1608

366

low

ENSG00000277125.1

ENSG00000135205.15

ENST00000275546.4

ENST00000285871.5

downstream

upstream

duplicates(9),multimappers(6)

GATCTAAAGCTTAAGGACTATGGAATGGATCTCATTGAAGTTTCAGGCAATGGATGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAA___TGATGTCACCATTTCTACCTGCCACGTATCGGCGAAGGTTGGGACTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCGGTTTGTTGATTTATCTGAAACTCCAGCTTTCATTTTTCTGCATGAG___TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAA

LH00995:48:23YTGFLT4:1:2334:23830:13331,LH00995:48:23YTGFLT4:1:2334:23830:13331,LH00995:48:23YTGFLT4:1:2334:23830:13331,LH00995:48:23YTGFLT4:1:2334:23830:13331,LH00995:48:23YTGFLT4:1:2334:23830:13331,LH00995:48:23YTGFLT4:5:1366:38473:2485,LH00995:48:23YTGFLT4:1:1345:47631:13107,LH00995:48:23YTGFLT4:1:1345:47631:13107,LH00995:48:23YTGFLT4:1:1345:47631:13107,LH00995:48:23YTGFLT4:1:1345:47639:13121,LH00995:48:23YTGFLT4:1:1345:47639:13121,LH00995:48:23YTGFLT4:1:1345:47639:13121,LH00995:48:23YTGFLT4:3:2492:25933:24120,LH00995:48:23YTGFLT4:4:1469:2351:11972,LH00995:48:23YTGFLT4:4:1469:2359:11958

AC211476.4

CCDC146

+/+

chr7:73069531

chr7:77241691

exon/splice-site

CDS/splice-site

deletion

1608

184

low

ENSG00000277125.1

ENSG00000135205.15

ENST00000275546.4

ENST00000285871.5

downstream

upstream

duplicates(1),mismatches(1)

CCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|CACACAAGAGTCAGAGGTCCA

LH00995:48:23YTGFLT4:6:1242:9001:15587,LH00995:48:23YTGFLT4:6:1242:9009:15573

AC211476.4

CCDC146

+/+

chr7:73072670

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

394

362

low

ENSG00000277125.1

ENSG00000135205.15

ENST00000275546.4

ENST00000285871.5

downstream

upstream

duplicates(10),multimappers(5)

GCAATGGATGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAA___TGATGTCACCATTTCTACCTGCCACGTATCGGCGAAGGTTGGGACTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGG...GGAATTTCAAAGGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGcTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAACGTTTC

LH00995:48:23YTGFLT4:1:1292:48448:19286,LH00995:48:23YTGFLT4:1:1292:48448:19286,LH00995:48:23YTGFLT4:1:1292:48448:19286,LH00995:48:23YTGFLT4:1:1292:48448:19286,LH00995:48:23YTGFLT4:1:1292:48448:19286,LH00995:48:23YTGFLT4:1:1292:48456:19272,LH00995:48:23YTGFLT4:1:1292:48456:19272,LH00995:48:23YTGFLT4:1:1292:48456:19272,LH00995:48:23YTGFLT4:1:1292:48456:19272,LH00995:48:23YTGFLT4:1:1292:48456:19272,LH00995:48:23YTGFLT4:1:1378:6590:16343,LH00995:48:23YTGFLT4:1:1378:6590:16343,LH00995:48:23YTGFLT4:1:1378:6590:16343,LH00995:48:23YTGFLT4:1:1262:22034:19356,LH00995:48:23YTGFLT4:4:1173:13564:8581

AC211476.4

CCDC146

+/+

chr7:73072670

chr7:77254506

exon/splice-site

CDS/splice-site

deletion

394

low

ENSG00000277125.1

ENSG00000135205.15

ENST00000275546.4

ENST00000285871.5

downstream

upstream

duplicates(2),multimappers(1)

GTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGcTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|CTTAAAGGAAGAAAAAATCATCATAGTAAAAGAATTTGAGAAGATAACAA

LH00995:48:23YTGFLT4:2:1449:16856:6185,LH00995:48:23YTGFLT4:2:1449:16856:6185,LH00995:48:23YTGFLT4:2:1449:16856:6185

AC092666.1(143590),AC006008.1(13949)

ACTR3B

./-

+/+

chr7:150220245

chr7:152783187

intergenic

CDS/splice-site

inversion

519

high

|Actin(97%)

ENSG00000133627.18

ENST00000256001.13

upstream

duplicates(1),mismatches(1),multimappers(4)

GGCCCCTCAACTTCCTCTGGACATGAATCAAACCGCAGGAGTCTCCAATAGCGTCAGGTATCCCCCGGGGAAAGGCCACAAG|GTATACCAAGCTTGGCTACGCAGGCAACACTGAGCCCCAGTTCATTATTCCTTCAT___GTATTGCCATCAGAGAGTCAGCAAAGGTAGTTGACCAAGCcCAAAGGAGAGTGTTGAGGGGAGTTGATGACCTTGACTTTTTCATAGGAGATGAAGCCATCGATAAAC

LH00995:48:23YTGFLT4:5:1478:27123:13205,LH00995:48:23YTGFLT4:1:2129:31216:4937,LH00995:48:23YTGFLT4:2:1183:17528:2359,LH00995:48:23YTGFLT4:2:2173:13750:2121,LH00995:48:23YTGFLT4:2:2311:48537:22719,LH00995:48:23YTGFLT4:3:1447:16598:4335,LH00995:48:23YTGFLT4:4:1232:14996:11173,LH00995:48:23YTGFLT4:5:2105:50527:1645,LH00995:48:23YTGFLT4:6:1247:6048:2738

L1TD1

+/+

chr1:62206726

chr1:62206721

CDS

duplication/ITD

236

215

3126

4549

medium

in-frame

|L1_transposable_element_RBD-like_domain(100%),L1_transposable_element_dsRBD-like_domain(100%)

ENSG00000240563.2

ENST00000498273.2

downstream

upstream

duplicates(151)

CATTCTGTAGGAATTAAAAACAGAATCCAGTCTTGACAACATATCCACAATGTCTGATGTATCTACTAGTGTACAATCAAAATTTGCTAGACTTGCAAAGAAAAAGGAAAATATCACCTATATGAAAAGAGAGCAGTTAACAGAAAC|AGAAACTGATAAGGACATAGCTCCGGTATTAGATTTAAAATGCAAGGACGTATCAGCAATTATGAATAAGTTTAAGGTCTTAATGGAAATTCAAGACCTGATGTTTGAGGAGATGAGGGAAACTCTTAAAAATGACCTAAAAGCAGTTTTAGGaGGAAAAGCTACAATACCT

MSDVSTSVQSKFARLAKKKENITYMKREQLTEt|ETDKDIAPVLDLKCKDVSAIMNKFKVLMEIQDLMFEEMRETLKNDLKAVLGGKATI

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ARHGEF35

-/-

chr7:144188356

chr7:144188377

CDS

duplication/ITD

159

1405

1586

medium

out-of-frame

RhoGEF_5/35_N-terminal_disordered_region(1%)|RhoGEF_5/35_N-terminal_disordered_region(99%)

ENSG00000213214.5

ENST00000378115.3

upstream

downstream

duplicates(165),low_entropy(3)

GGCCGGGCCTGCGCTGGGGACGGCTCTGGGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATGAGGACC

MEAEEAQrG|g*

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FLT4:2:1284:15052:29571,LH00995:48:23YTGFLT4:2:1284:15052:29571,LH00995:48:23YTGFLT4:2:1284:47776:9183,LH00995:48:23YTGFLT4:2:1284:47776:9183,LH00995:48:23YTGFLT4:2:1285:27689:12392,LH00995:48:23YTGFLT4:2:1285:27689:12392,LH00995:48:23YTGFLT4:2:1290:28555:23223,LH00995:48:23YTGFLT4:2:1294:30011:12238,LH00995:48:23YTGFLT4:2:1294:30011:12238,LH00995:48:23YTGFLT4:2:1298:36402:18571,LH00995:48:23YTGFLT4:2:1298:36402:18571,LH00995:48:23YTGFLT4:2:1298:36410:18557,LH00995:48:23YTGFLT4:2:1298:36410:18557,LH00995:48:23YTGFLT4:2:1323:21937:9015,LH00995:48:23YTGFLT4:2:1323:21937:9015,LH00995:48:23YTGFLT4:2:1333:4252:23532,LH00995:48:23YTGFLT4:2:1333:4252:23532,LH00995:48:23YTGFLT4:2:1365:21209:2625,LH00995:48:23YTGFLT4:2:1367:29177:7179,LH00995:48:23YTGFLT4:2:1367:29177:7179,LH00995:48:23YTGFLT4:2:1372:33748:28016,LH00995:48:23YTGFLT4:2:1372:33748:28016,LH00995:48:23YTGFLT4:2:1373:17536:13919,LH00995:48:23YTGFLT4:2:1375:47412:22901,LH00995:48:23YTGFLT4:2:1375:47412:22901,LH00995:48:23YTGFLT4:2:1388:38788:25255,LH00995:48:23YTGFLT4:2:1388:38788:25255,LH00995:48:23YTGFLT4:2:1388:38788:25255,LH00995:48:23YTGFLT4:2:1391:10037:18165,LH00995:48:23YTGFLT4:2:1393:49160:28198,LH00995:48:23YTGFLT4:2:1396:30003:11131,LH00995:48:23YTGFLT4:2:1423:34509:27539,LH00995:48:23YTGFLT4:2:1423:34517:27553,LH00995:48:23YTGFLT4:2:1441:1227:4139,LH00995:48:23YTGFLT4:2:1441:1227:4139,LH00995:48:23YTGFLT4:2:1441:1227:4139,LH00995:48:23YTGFLT4:2:1444:36653:28814,LH00995:48:23YTGFLT4:2:1444:36653:28814,LH00995:48:23YTGFLT4:2:1452:26119:26068,LH00995:48:23YTGFLT4:2:1452:26119:26068,LH00995:48:23YTGFLT4:2:1453:21209:7081,LH00995:48:23YTGFLT4:2:1480:12310:27904,LH00995:48:23YTGFLT4:2:1480:12310:27904,LH00995:48:23YTGFLT4:2:1484:40787:23896,LH00995:48:23YTGFLT4:2:2105:22358:19076,LH00995:48:23YTGFLT4:2:2105:22358:19076,LH00995:48:23YTGFLT4:2:2105:27187:12000,LH00995:48:23YTGFLT4:2:2128:50673:8847,LH00995:48:23YTGFLT4:2:2128:50673:8847,LH00995:48:23YTGFLT4:2:2134:36863:18810,LH00995:48:23YTGFLT4:2:2134:36863:18810,LH00995:48:23YTGFLT4:2:2141:21532:26502,LH00995:48:23YTGFLT4:2:2141:21532:26502,LH00995:48:23YTGFLT4:2:2142:12989:20673,LH00995:48:23YTGFLT4:2:2142:12989:20673,LH00995:48:23YTGFLT4:2:2143:46514:22579,LH00995:48:23YTGFLT4:2:2145:22924:16694,LH00995:48:23YTGFLT4:2:2145:22924:16694,LH00995:48:23YTGFLT4:2:2161:16606:20968,LH00995:48:23YTGFLT4:2:2168:42251:11355,LH00995:48:23YTGFLT4:2:2178:29776:13541,LH00995:48:23YTGFLT4:2:2178:29776:13541,LH00995:48:23YTGFLT4:2:2181:7723:21052,LH00995:48:23YTGFLT4:2:2181:7723:21052,LH00995:48:23YTGFLT4:2:2183:19445:21486,LH00995:48:23YTGFLT4:2:2183:19445:21486,LH00995:48:23YTGFLT4:2:2188:21104:9618,LH00995:48:23YTGFLT4:2:2188:21104:9618,LH00995:48:23YTGFLT4:2:2196:33587:12995,LH00995:48:23YTGFLT4:2:2197:51886:5568,LH00995:48:23YTGFLT4:2:2197:51886:5568,LH00995:48:23YTGFLT4:2:2206:4859:9758,LH00995:48:23YTGFLT4:2:2213:27681:2569,LH00995:48:23YTGFLT4:2:2213:27681:2569,LH00995:48:23YTGFLT4:2:2223:32737:3340,LH00995:48:23YTGFLT4:2:2223:32737:3340,LH00995:48:23YTGFLT4:2:2227:21322:14508,LH00995:48:23YTGFLT4:2:2227:21322:14508,LH00995:48:23YTGFLT4:2:2230:19575:12126,LH00995:48:23YTGFLT4:2:2230:19575:12126,LH00995:48:23YTGFLT4:2:2236:25561:2934,LH00995:48:23YTGFLT4:2:2259:26694:3802,LH00995:48:23YTGFLT4:2:2259:26694:3802,LH00995:48:23YTGFLT4:2:2259:26702:3788,LH00995:48:23YTGFLT4:2:2259:26702:3788,LH00995:48:23YTGFLT4:2:2259:26718:3788,LH00995:48:23YTGFLT4:3:2419:15869:17450,LH00995:48:23YTGFLT4:3:2419:15869:17450,LH00995:48:23YTGFLT4:1:1153:9980:21906,LH00995:48:23YTGFLT4:1:1153:9988:21892,LH00995:48:23YTGFLT4:1:2253:22981:4909,LH00995:48:23YTGFLT4:3:1441:22180:27567,LH00995:48:23YTGFLT4:3:1466:40819:23420,LH00995:48:23YTGFLT4:3:1466:40835:23420,LH00995:48:23YTGFLT4:5:2489:23887:20435

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

103

1733

1886

medium

in-frame

SAP_domain(100%)|RNSP1-SAP18_binding_(RSB)_motif(100%)

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(83),low_entropy(1),mismappers(25)

GTTCAGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACaTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCA

SGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRShSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPV

LH00995:48:23YTGFLT4:1:1117:33425:21626,LH00995:48:23YTGFLT4:1:1162:44597:22369,LH00995:48:23YTGFLT4:1:1279:13224:26965,LH00995:48:23YTGFLT4:1:1279:13232:26951,LH00995:48:23YTGFLT4:1:1280:1008:2836,LH00995:48:23YTGFLT4:1:1368:1259:2653,LH00995:48:23YTGFLT4:1:1374:4867:13583,LH00995:48:23YTGFLT4:1:1384:10732:24218,LH00995:48:23YTGFLT4:1:1389:31645:6773,LH00995:48:23YTGFLT4:1:1389:31653:6787,LH00995:48:23YTGFLT4:1:1389:31661:6801,LH00995:48:23YTGFLT4:1:1462:7553:12350,LH00995:48:23YTGFLT4:1:1497:31273:20533,LH00995:48:23YTGFLT4:1:2105:42736:18726,LH00995:48:23YTGFLT4:1:2111:6493:21108,LH00995:48:23YTGFLT4:1:2183:2456:6213,LH00995:48:23YTGFLT4:1:2262:25157:2681,LH00995:48:23YTGFLT4:1:2286:45139:27231,LH00995:48:23YTGFLT4:1:2286:45155:27231,LH00995:48:23YTGFLT4:1:2342:13677:3256,LH00995:48:23YTGFLT4:1:2342:43618:14368,LH00995:48:23YTGFLT4:1:2343:40067:20491,LH00995:48:23YTGFLT4:1:2377:33336:4461,LH00995:48:23YTGFLT4:1:2384:4794:28758,LH00995:48:23YTGFLT4:1:2444:49734:26334,LH00995:48:23YTGFLT4:2:1105:14397:15965,LH00995:48:23YTGFLT4:2:1119:35892:28282,LH00995:48:23YTGFLT4:2:1119:6979:28254,LH00995:48:23YTGFLT4:2:1234:23959:5148,LH00995:48:23YTGFLT4:2:1252:10409:18249,LH00995:48:23YTGFLT4:2:1258:24785:19048,LH00995:48:23YTGFLT4:2:1304:8370:7880,LH00995:48:23YTGFLT4:2:1324:19105:17282,LH00995:48:23YTGFLT4:2:1445:31880:18277,LH00995:48:23YTGFLT4:2:1494:5967:29249,LH00995:48:23YTGFLT4:2:2113:19898:4027,LH00995:48:23YTGFLT4:2:2129:23660:28955,LH00995:48:23YTGFLT4:2:2132:23078:2079,LH00995:48:23YTGFLT4:2:2150:48828:26614,LH00995:48:23YTGFLT4:2:2167:51134:18249,LH00995:48:23YTGFLT4:2:2184:21832:1715,LH00995:48:23YTGFLT4:2:2238:17657:6479,LH00995:48:23YTGFLT4:2:2243:14551:15391,LH00995:48:23YTGFLT4:2:2339:19170:29249,LH00995:48:23YTGFLT4:2:2352:10239:19160,LH00995:48:23YTGFLT4:2:2395:24987:12924,LH00995:48:23YTGFLT4:2:2423:35294:29403,LH00995:48:23YTGFLT4:2:2496:25367:5344,LH00995:48:23YTGFLT4:3:1101:16322:20001,LH00995:48:23YTGFLT4:3:1147:50559:17591,LH00995:48:23YTGFLT4:3:1214:49006:5092,LH00995:48:23YTGFLT4:3:1275:16104:10402,LH00995:48:23YTGFLT4:3:1308:8572:23027,LH00995:48:23YTGFLT4:3:1308:8580:23013,LH00995:48:23YTGFLT4:3:1484:14033:13877,LH00995:48:23YTGFLT4:3:2141:14340:28618,LH00995:48:23YTGFLT4:3:2257:16525:19931,LH00995:48:23YTGFLT4:3:2272:29291:19342,LH00995:48:23YTGFLT4:3:2303:6081:14816,LH00995:48:23YTGFLT4:3:2323:23199:4195,LH00995:48:23YTGFLT4:3:2326:27365:2527,LH00995:48:23YTGFLT4:3:2328:24631:13625,LH00995:48:23YTGFLT4:3:2328:24639:13639,LH00995:48:23YTGFLT4:3:2328:34517:3564,LH00995:48:23YTGFLT4:3:2339:11970:12686,LH00995:48:23YTGFLT4:3:2340:22730:19776,LH00995:48:23YTGFLT4:3:2353:26888:15180,LH00995:48:23YTGFLT4:3:2403:10263:20547,LH00995:48:23YTGFLT4:3:2482:4568:28562,LH00995:48:23YTGFLT4:4:1128:20732:2191,LH00995:48:23YTGFLT4:4:1139:41660:8174,LH00995:48:23YTGFLT4:4:1213:11436:15713,LH00995:48:23YTGFLT4:4:1213:11444:15699,LH00995:48:23YTGFLT4:4:1226:27131:21766,LH00995:48:23YTGFLT4:4:1271:8038:23083,LH00995:48:23YTGFLT4:4:1288:12253:11832,LH00995:48:23YTGFLT4:4:1288:40487:3480,LH00995:48:23YTGFLT4:4:1345:24655:2794,LH00995:48:23YTGFLT4:4:1364:2877:28156,LH00995:48:23YTGFLT4:4:1435:18717:12658,LH00995:48:23YTGFLT4:4:1453:30205:2681,LH00995:48:23YTGFLT4:4:1462:30642:27287,LH00995:48:23YTGFLT4:4:1477:48529:15110,LH00995:48:23YTGFLT4:4:2111:27592:14326,LH00995:48:23YTGFLT4:4:2214:38699:4027,LH00995:48:23YTGFLT4:4:2231:42332:3788,LH00995:48:23YTGFLT4:4:2238:18426:25213,LH00995:48:23YTGFLT4:4:2241:30253:21066,LH00995:48:23YTGFLT4:4:2252:11420:11537,LH00995:48:23YTGFLT4:4:2275:10918:2429,LH00995:48:23YTGFLT4:4:2302:32826:2541,LH00995:48:23YTGFLT4:4:2348:41086:21528,LH00995:48:23YTGFLT4:4:2352:34355:9337,LH00995:48:23YTGFLT4:4:2429:44290:3116,LH00995:48:23YTGFLT4:4:2467:1736:29683,LH00995:48:23YTGFLT4:4:2479:7634:24849,LH00995:48:23YTGFLT4:5:1102:9373:18109,LH00995:48:23YTGFLT4:5:1103:24704:19468,LH00995:48:23YTGFLT4:5:1126:42550:4951,LH00995:48:23YTGFLT4:5:1126:42566:4951,LH00995:48:23YTGFLT4:5:1137:13402:27245,LH00995:48:23YTGFLT4:5:1207:31807:19468,LH00995:48:23YTGFLT4:5:1231:33287:20435,LH00995:48:23YTGFLT4:5:1233:32931:12728,LH00995:48:23YTGFLT4:5:1240:34371:7179,LH00995:48:23YTGFLT4:5:1310:32891:29445,LH00995:48:23YTGFLT4:5:1322:15756:2541,LH00995:48:23YTGFLT4:5:1334:11113:16666,LH00995:48:23YTGFLT4:5:1469:1866:7179,LH00995:48:23YTGFLT4:5:2121:38432:26544,LH00995:48:23YTGFLT4:5:2182:13402:23153,LH00995:48:23YTGFLT4:5:2186:5134:26040,LH00995:48:23YTGFLT4:5:2256:12625:28646,LH00995:48:23YTGFLT4:5:2267:19033:28983,LH00995:48:23YTGFLT4:5:2401:30884:14536,LH00995:48:23YTGFLT4:5:2410:19397:20897,LH00995:48:23YTGFLT4:5:2431:25294:17857,LH00995:48:23YTGFLT4:5:2431:25302:17843,LH00995:48:23YTGFLT4:5:2432:41062:12882,LH00995:48:23YTGFLT4:5:2441:3751:1224,LH00995:48:23YTGFLT4:5:2458:38424:24961,LH00995:48:23YTGFLT4:6:1142:31742:12966,LH00995:48:23YTGFLT4:6:1229:34379:19552,LH00995:48:23YTGFLT4:6:1233:9737:2289,LH00995:48:23YTGFLT4:6:1242:13329:22803,LH00995:48:23YTGFLT4:6:1245:35285:5148,LH00995:48:23YTGFLT4:6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0995:48:23YTGFLT4:5:1397:7682:11285,LH00995:48:23YTGFLT4:5:1465:26540:6199,LH00995:48:23YTGFLT4:5:1497:29582:6199,LH00995:48:23YTGFLT4:5:2113:35051:18165,LH00995:48:23YTGFLT4:5:2144:19421:22032,LH00995:48:23YTGFLT4:5:2179:14518:23490,LH00995:48:23YTGFLT4:5:2184:18968:13849,LH00995:48:23YTGFLT4:5:2216:11687:7852,LH00995:48:23YTGFLT4:5:2216:11695:7838,LH00995:48:23YTGFLT4:5:2274:3993:7334,LH00995:48:23YTGFLT4:5:2372:7326:4923,LH00995:48:23YTGFLT4:5:2381:12892:10332,LH00995:48:23YTGFLT4:5:2394:31249:21696,LH00995:48:23YTGFLT4:5:2396:35957:27749,LH00995:48:23YTGFLT4:5:2398:23733:26951,LH00995:48:23YTGFLT4:5:2428:45204:9968,LH00995:48:23YTGFLT4:6:1164:3289:14298,LH00995:48:23YTGFLT4:6:1243:50867:18655,LH00995:48:23YTGFLT4:6:1243:50875:18641,LH00995:48:23YTGFLT4:6:1254:40819:13443,LH00995:48:23YTGFLT4:6:1270:48958:3915,LH00995:48:23YTGFLT4:6:1285:7302:17100,LH00995:48:23YTGFLT4:6:1307:19567:14214,LH00995:48:23YTGFLT4:6:1429:40924:21360,LH00995:48:23YTGFLT4:6:2110:32689:8861,LH00995:48:23YTGFLT4:6:2129:10692:3550,LH00995:48:23YTGFLT4:6:2143:30731:7656,LH00995:48:23YTGFLT4:6:2271:7529:17549,LH00995:48:23YTGFLT4:6:2313:38942:12322,LH00995:48:23YTGFLT4:6:2326:3500:18221,LH00995:48:23YTGFLT4:6:2331:39063:4517,LH00995:48:23YTGFLT4:6:2339:31394:6507,LH00995:48:23YTGFLT4:6:2380:3524:13331,LH00995:48:23YTGFLT4:6:2390:26136:8553

DNLZ

-/-

chr9:136363684

chr9:136363716

CDS

5'UTR

duplication/ITD

155

583

815

medium

in-frame

|DNL_zinc_finger(100%)

ENSG00000213221.5

ENST00000371738.4

upstream

downstream

duplicates(88)

GGCGGACGGAGCCGGCGAGCGGGATGCTGCGGACTGCGCTGCGCGGCGCGCCGA|GGtTGCTGCGGACTGCGCTGCGCGGCGCGCCGAGGTTGCTGAGTCGCGTGCAGCCCCGGGCGCCCTGCCTGAGGCGGCTGTGGGGCCGCGGGGCCCGTCCAGAGGTCGCGGGGAGGCGGCGGGCCTGGGCCTGGGGCTGGCGGCGCTCAAGCTCCGAGCA

MLRTALRGAP|rlLRTALRGAPRLLSRVQPRAPCLRRLWGRGARPEVAGRRRAWAWGWRRSSSE

LH00995:48:23YTGFLT4:5:1166:30545:3606,LH00995:48:23YTGFLT4:1:1104:8677:11467,LH00995:48:23YTGFLT4:1:1141:41191:18908,LH00995:48:23YTGFLT4:1:1166:18855:21864,LH00995:48:23YTGFLT4:1:1167:47008:18473,LH00995:48:23YTGFLT4:1:1177:16848:23041,LH00995:48:23YTGFLT4:1:1189:28506:22327,LH00995:48:23YTGFLT4:1:1204:16978:2219,LH00995:48:23YTGFLT4:1:1262:39063:27189,LH00995:48:23YTGFLT4:1:1279:42105:9730,LH00995:48:23YTGFLT4:1:1403:35213:6843,LH00995:48:23YTGFLT4:1:1409:11760:8483,LH00995:48:23YTGFLT4:1:1442:28749:13219,LH00995:48:23YTGFLT4:1:1458:37898:3844,LH00995:48:23YTGFLT4:1:1462:4794:15559,LH00995:48:23YTGFLT4:1:1462:4802:15545,LH00995:48:23YTGFLT4:1:1462:4802:15573,LH00995:48:23YTGFLT4:1:1471:48602:21262,LH00995:48:23YTGFLT4:1:1473:28377:19636,LH00995:48:23YTGFLT4:1:1482:10765:11215,LH00995:48:23YTGFLT4:1:1483:37300:8749,LH00995:48:23YTGFLT4:1:1484:39072:14340,LH00995:48:23YTGFLT4:1:1495:40714:22145,LH00995:48:23YTGFLT4:1:2101:30982:17394,LH00995:48:23YTGFLT4:1:2118:29153:12434,LH00995:48:23YTGFLT4:1:2123:37259:5792,LH00995:48:23YTGFLT4:1:2142:2715:13331,LH00995:48:23YTGFLT4:1:2150:1817:7376,LH00995:48:23YTGFLT4:1:2188:12819:9786,LH00995:48:23YTGFLT4:1:2202:5838:17450,LH00995:48:23YTGFLT4:1:2210:8661:9702,LH00995:48:23YTGFLT4:1:2259:44128:27357,LH00995:48:23YTGFLT4:1:2283:14615:1827,LH00995:48:23YTGFLT4:1:2349:6064:24485,LH00995:48:23YTGFLT4:1:2359:50503:6451,LH00995:48:23YTGFLT4:1:2360:8200:12910,LH00995:48:23YTGFLT4:1:2363:22317:8609,LH00995:48:23YTGFLT4:1:2363:43165:20029,LH00995:48:23YTGFLT4:1:2379:38473:10500,LH00995:48:23YTGFLT4:1:2383:29800:3270,LH00995:48:23YTGFLT4:1:2384:33506:19132,LH00995:48:23YTGFLT4:1:2408:46450:9379,LH00995:48:23YTGFLT4:1:2410:12164:9295,LH00995:48:23YTGFLT4:1:2434:29420:16680,LH00995:48:23YTGFLT4:1:2491:34865:7754,LH00995:48:23YTGFLT4:2:1136:18992:22327,LH00995:48:23YTGFLT4:2:1172:49483:1855,LH00995:48:23YTGFLT4:2:1190:31823:16301,LH00995:48:23YTGFLT4:2:1198:46005:1238,LH00995:48:23YTGFLT4:2:1237:34371:25339,LH00995:48:23YTGFLT4:2:1247:22252:26236,LH00995:48:23YTGFLT4:2:1247:39500:23294,LH00995:48:23YTGFLT4:2:1266:42380:25704,LH00995:48:23YTGFLT4:2:1297:17196:23448,LH00995:48:23YTGFLT4:2:1309:50891:18726,LH00995:48:23YTGFLT4:2:1313:23345:16442,LH00995:48:23YTGFLT4:2:1391:50640:3999,LH00995:48:23YTGFLT4:2:1398:45544:2990,LH00995:48:23YTGFLT4:2:1398:9090:27203,LH00995:48:23YTGFLT4:2:1407:5975:22565,LH00995:48:23YTGFLT4:2:1407:5992:22565,LH00995:48:23YTGFLT4:2:1414:46797:1350,LH00995:48:23YTGFLT4:2:1422:25804:12070,LH00995:48:23YTGFLT4:2:1431:50980:10837,LH00995:48:23YTGFLT4:2:1432:25416:13331,LH00995:48:23YTGFLT4:2:1453:31119:15447,LH00995:48:23YTGFLT4:2:1463:16339:22299,LH00995:48:23YTGFLT4:2:1481:39711:24022,LH00995:48:23YTGFLT4:2:2138:51182:21948,LH00995:48:23YTGFLT4:2:2144:32381:18277,LH00995:48:23YTGFLT4:2:2173:50042:7838,LH00995:48:23YTGFLT4:2:2268:16387:8483,LH00995:48:23YTGFLT4:2:2268:17536:4643,LH00995:48:23YTGFLT4:2:2268:27551:22187,LH00995:48:23YTGFLT4:2:2289:4527:22495,LH00995:48:23YTGFLT4:2:2291:8063:27946,LH00995:48:23YTGFLT4:2:2292:44824:20575,LH00995:48:23YTGFLT4:2:2346:42405:10360,LH00995:48:23YTGFLT4:2:2401:6914:2695,LH00995:48:23YTGFLT4:2:2410:21880:20603,LH00995:48:23YTGFLT4:2:2478:44209:29739,LH00995:48:23YTGFLT4:2:2492:3912:9239,LH00995:48:23YTGFLT4:2:2495:3273:28730,LH00995:48:23YTGFLT4:3:1113:47518:17254,LH00995:48:23YTGFLT4:3:1115:22447:25199,LH00995:48:23YTGFLT4:3:1124:22875:4755,LH00995:48:23YTGFLT4:3:1143:12083:24541,LH00995:48:23YTGFLT4:3:1169:41442:17408,LH00995:48:23YTGFLT4:3:1184:41240:22915,LH00995:48:23YTGFLT4:3:1203:47679:2513,LH00995:48:23YTGFLT4:3:1231:42445:9618,LH00995:48:23YTGFLT4:3:1284:42073:27693,LH00995:48:23YTGFLT4:3:1327:26896:15251,LH00995:48:23YTGFLT4:3:1386:19186:26923,LH00995:48:23YTGFLT4:3:1398:20643:12966,LH00995:48:23YTGFLT4:3:1434:51927:12981,LH00995:48:23YTGFLT4:3:1482:13968:4657,LH00995:48:23YTGFLT4:3:1487:18758:24751,LH00995:48:23YTGFLT4:3:1487:18766:24737,LH00995:48:23YTGFLT4:3:1496:26888:18095,LH00995:48:23YTGFLT4:3:2121:22066:5624,LH00995:48:23YTGFLT4:3:2130:10878:9646,LH00995:48:23YTGFLT4:3:2135:38432:24891,LH00995:48:23YTGFLT4:3:2191:36596:6437,LH00995:48:23YTGFLT4:3:2191:36612:6465,LH00995:48:23YTGFLT4:3:2218:9681:18866,LH00995:48:23YTGFLT4:3:2220:28385:10654,LH00995:48:23YTGFLT4:3:2226:29347:21990,LH00995:48:23YTGFLT4:3:2259:20052:1603,LH00995:48:23YTGFLT4:3:2262:46490:9562,LH00995:48:23YTGFLT4:3:2273:50794:2724,LH00995:48:23YTGFLT4:3:2298:3726:1098,LH00995:48:23YTGFLT4:3:2367:33934:21892,LH00995:48:23YTGFLT4:3:2375:48254:6899,LH00995:48:23YTGFLT4:3:2397:31184:19931,LH00995:48:23YTGFLT4:3:2408:4365:2457,LH00995:48:23YTGFLT4:3:2417:14583:5190,LH00995:48:23YTGFLT4:3:2423:8435:4713,LH00995:48:23YTGFLT4:3:2489:5644:18291,LH00995:48:23YTGFLT4:3:2490:27665:2625,LH00995:48:23YTGFLT4:4:1128:14357:3676,LH00995:48:23YTGFLT4:4:1132:21087:22257,LH00995:48:23YTGFLT4:4:1145:46814:5778,LH00995:48:23YTGFLT4:4:1151:45406:9365,LH00995:48:23YTGFLT4:4:1234:10198:10935,LH00995:48:23YTGFLT4:4:1267:36968:9211,LH00995:48:23YTGFLT4:4:1267:3697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ZNF417

-/-

chr19:57908954

chr19:57908996

CDS

duplication/ITD

1740

medium

out-of-frame

KRAB_box(100%),Zinc_finger__C2H2_type(62%)|Zinc_finger__C2H2_type(41%)

ENSG00000173480.11

ENST00000312026.6

upstream

downstream

duplicates(263),low_entropy(13)

GCAACCTCGTTCAACATCAGCGAGGTCATACTGGAGAAAGGCCCTATGAGTGCAAGGAATGTGGGAAATCATTTAGGTACAGATCCCACCTCACTGAACACCAGAGACTTCACACTGGGGAAAGACCTTACAATTGTAGGGAATGTG|AGACTTCACACTGGGGAAAGACCTTACAATTGTAGGGAATGTGGGAAATTATTTAACAGGAAGTATCATCTTCTCGTTCATGAGAGAGTTCACACTGGAGAAAGGCCATATGCGTGTGAGGTATGTGGGAAA

NLVQHQRGHTGERPYECKECGKSFRYRSHLTEHQRLHTGERPYNCREC|etshwgktlql*

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LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

716

767

medium

in-frame

|Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(87),mismappers(1)

ACGGCTGTCACGGCCGCGCACATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCGCCCT

TAVTAAHILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPPPP

LH00995:48:23YTGFLT4:1:1114:11655:19903,LH00995:48:23YTGFLT4:1:1139:6485:21430,LH00995:48:23YTGFLT4:1:1139:6493:21444,LH00995:48:23YTGFLT4:1:1172:7852:7011,LH00995:48:23YTGFLT4:1:1192:25966:25241,LH00995:48:23YTGFLT4:1:1219:25367:17759,LH00995:48:23YTGFLT4:1:1234:20675:22663,LH00995:48:23YTGFLT4:1:1347:1396:11243,LH00995:48:23YTGFLT4:1:1355:23458:24457,LH00995:48:23YTGFLT4:1:1367:40641:11453,LH00995:48:23YTGFLT4:1:1379:40034:4097,LH00995:48:23YTGFLT4:1:1478:22843:21934,LH00995:48:23YTGFLT4:1:1484:17431:7740,LH00995:48:23YTGFLT4:1:1487:34428:16526,LH00995:48:23YTGFLT4:1:2159:22244:28941,LH00995:48:23YTGFLT4:1:2196:13038:8987,LH00995:48:23YTGFLT4:1:2260:38756:16035,LH00995:48:23YTGFLT4:1:2319:36094:2625,LH00995:48:23YTGFLT4:1:2381:1267:20743,LH00995:48:23YTGFLT4:1:2396:8281:21262,LH00995:48:23YTGFLT4:1:2401:34371:18669,LH00995:48:23YTGFLT4:1:2441:20683:29487,LH00995:48:23YTGFLT4:2:1107:40342:2583,LH00995:48:23YTGFLT4:2:1122:3079:18950,LH00995:48:23YTGFLT4:2:1122:3087:18936,LH00995:48:23YTGFLT4:2:1132:17285:22621,LH00995:48:23YTGFLT4:2:1168:22309:19889,LH00995:48:23YTGFLT4:2:1175:45390:11411,LH00995:48:23YTGFLT4:2:1260:6218:24695,LH00995:48:23YTGFLT4:2:1281:16161:1813,LH00995:48:23YTGFLT4:2:1311:51563:27259,LH00995:48:23YTGFLT4:2:1334:3500:9618,LH00995:48:23YTGFLT4:2:1383:5377:26236,LH00995:48:23YTGFLT4:2:1402:28644:5862,LH00995:48:23YTGFLT4:2:2104:24332:17002,LH00995:48:23YTGFLT4:2:2133:14162:26460,LH00995:48:23YTGFLT4:2:2161:3152:3018,LH00995:48:23YTGFLT4:2:2264:3451:19202,LH00995:48:23YTGFLT4:2:2312:47566:19412,LH00995:48:23YTGFLT4:2:2392:46425:6703,LH00995:48:23YTGFLT4:2:2405:1421:22775,LH00995:48:23YTGFLT4:3:1163:8297:5372,LH00995:48:23YTGFLT4:3:1170:8718:12154,LH00995:48:23YTGFLT4:3:1254:8588:9211,LH00995:48:23YTGFLT4:3:1349:49435:6255,LH00995:48:23YTGFLT4:3:1359:23385:3116,LH00995:48:23YTGFLT4:3:1385:36701:28898,LH00995:48:23YTGFLT4:3:1421:19534:27273,LH00995:48:23YTGFLT4:3:1487:38716:20253,LH00995:48:23YTGFLT4:3:1487:38724:20267,LH00995:48:23YTGFLT4:3:2210:36960:13177,LH00995:48:23YTGFLT4:3:2241:41571:18361,LH00995:48:23YTGFLT4:3:2246:2068:24849,LH00995:48:23YTGFLT4:3:2255:46644:27483,LH00995:48:23YTGFLT4:3:2258:10611:14984,LH00995:48:23YTGFLT4:3:2278:11363:18641,LH00995:48:23YTGFLT4:3:2284:35819:16834,LH00995:48:23YTGFLT4:3:2294:26540:5134,LH00995:48:23YTGFLT4:3:2349:31604:23938,LH00995:48:23YTGFLT4:3:2358:26945:4685,LH00995:48:23YTGFLT4:3:2379:49969:11411,LH00995:48:23YTGFLT4:3:2383:29970:27133,LH00995:48:23YTGFLT4:3:2469:23838:23209,LH00995:48:23YTGFLT4:3:2482:44015:18109,LH00995:48:23YTGFLT4:3:2493:29946:28716,LH00995:48:23YTGFLT4:4:1157:23668:6633,LH00995:48:23YTGFLT4:4:1178:14284:22803,LH00995:48:23YTGFLT4:4:1227:35674:10220,LH00995:48:23YTGFLT4:4:1273:43149:20645,LH00995:48:23YTGFLT4:4:1281:28603:27735,LH00995:48:23YTGFLT4:4:1312:20036:29011,LH00995:48:23YTGFLT4:4:1329:31661:1981,LH00995:48:23YTGFLT4:4:1340:41798:15811,LH00995:48:23YTGFLT4:4:1353:44112:25479,LH00995:48:23YTGFLT4:4:1353:44120:25493,LH00995:48:23YTGFLT4:4:1353:44128:25479,LH00995:48:23YTGFLT4:4:1374:12957:24989,LH00995:48:23YTGFLT4:4:1374:12973:24989,LH00995:48:23YTGFLT4:4:1442:21249:9113,LH00995:48:23YTGFLT4:4:1490:15675:17002,LH00995:48:23YTGFLT4:4:1494:23239:10767,LH00995:48:23YTGFLT4:4:2178:26176:11705,LH00995:48:23YTGFLT4:4:2216:19421:9786,LH00995:48:23YTGFLT4:4:2321:10239:2878,LH00995:48:23YTGFLT4:4:2360:14915:6157,LH00995:48:23YTGFLT4:4:2376:34258:21136,LH00995:48:23YTGFLT4:4:2424:3411:24625,LH00995:48:23YTGFLT4:4:2440:18879:16021,LH00995:48:23YTGFLT4:5:1126:20861:25311,LH00995:48:23YTGFLT4:5:1140:24000:18585,LH00995:48:23YTGFLT4:5:1163:39031:27637,LH00995:48:23YTGFLT4:5:1178:14680:18417,LH00995:48:23YTGFLT4:5:1178:15392:10122,LH00995:48:23YTGFLT4:5:1178:1963:16960,LH00995:48:23YTGFLT4:5:1187:28077:10038,LH00995:48:23YTGFLT4:5:1275:52088:23266,LH00995:48:23YTGFLT4:5:1329:24882:25634,LH00995:48:23YTGFLT4:5:1364:43295:21318,LH00995:48:23YTGFLT4:5:1369:21257:9660,LH00995:48:23YTGFLT4:5:1477:51166:14858,LH00995:48:23YTGFLT4:5:1486:21217:21472,LH00995:48:23YTGFLT4:5:1487:32357:22635,LH00995:48:23YTGFLT4:5:2152:1267:14578,LH00995:48:23YTGFLT4:5:2166:30893:25844,LH00995:48:23YTGFLT4:5:2186:27381:24555,LH00995:48:23YTGFLT4:5:2214:30027:15909,LH00995:48:23YTGFLT4:5:2240:16719:21500,LH00995:48:23YTGFLT4:5:2240:16735:21500,LH00995:48:23YTGFLT4:5:2414:29501:6086,LH00995:48:23YTGFLT4:5:2431:39929:22775,LH00995:48:23YTGFLT4:5:2489:35504:7320,LH00995:48:23YTGFLT4:5:2496:3273:19847,LH00995:48:23YTGFLT4:6:1112:50487:18361,LH00995:48:23YTGFLT4:6:1120:37308:21234,LH00995:48:23YTGFLT4:6:1193:3540:10725,LH00995:48:23YTGFLT4:6:1193:3548:10739,LH00995:48:23YTGFLT4:6:1221:45212:10150,LH00995:48:23YTGFLT4:6:1221:45220:10136,LH00995:48:23YTGFLT4:6:1223:1202:20211,LH00995:48:23YTGFLT4:6:1254:13240:12812,LH00995:48:23YTGFLT4:6:1358:41830:7628,LH00995:48:23YTGFLT4:6:1358:41846:7628,LH00995:48:23YTGFLT4:6:1374:32357:19356,LH00995:48:23YTGFLT4:6:1385:8677:19202,LH00995:48:23YTGFLT4:6:1423:3184:17310,LH00995:48:23YTGFLT4:6:2170:12819:13989,LH00995:48:23YTGFLT4:6:2175:44476:16974,LH00995:48:23YTGFLT4:6:2178:12019:26895,LH00995:48:23YTGFLT4:6:2191:26330:28758,LH00995:48:23YTGFLT4:6:2233:40042:28044,LH00995:48:23YTGFLT4:6:2285:27608:21472,LH00995:48:23YTGFLT4:6:2297:41749:21864,LH00995:48:23YTGFLT4:6:2327:49613:2583,LH00995:48:23YTGFLT4:6:2384:24679:17436,LH00995:48:23YTGFLT4:1:1225:26880:11719,LH00995:48:23YTGFLT4:1:1241:38902:11635,LH00995:48:23YTGFLT4:1:1271:13960:2738,LH00995:48:23YTGFLT4:1:1437:8119:4531,LH00995:48:23YTGFLT4:1:2397:11274:25493,LH00995:48:23YTGFLT4:1:2493:47331:8805,LH00995:48:23YTGFLT4:2:1154:7173:13625,LH00995:48:23YTGFLT4:2:1165:51441:2275,LH00995:48:23YTGFLT4:2:1214:30674:23392,LH00995:48:23YTGFLT4:2:1367:39500:7292,LH00995:48:23YTGFLT4:2:1409:9745:22565,LH00995:48:23YTGFLT4:2:1428:47291:19104,LH00995:48:23YTGFLT4:2:1465:7229:20645,LH00995:48:23YTGFLT4:2:1480:49734:12098,LH00995:48:23YTGFLT4:2:2316:2513:20323,LH00995:48:23YTGFLT4:2:2320:33837:4041,LH00995:48:23YTGFLT4:2:2341:12035:28492,LH00995:48:23YTGFLT4:2:2376:26799:15671,LH00995:48:23YTGFLT4:2:2383:31378:6535,LH00995:48:23YTGFLT4:3:1142:36701:2135,LH00995:48:23YTGFLT4:3:1158:24825:5862,LH00995:48:23YTGFLT4:3:1229:8993:24653,LH00995:48:23YTGFLT4:3:1282:45665:26068,LH00995:48:23YTGFLT4:3:1339:24655:14844,LH00995:48:23YTGFLT4:3:1341:1574:12700,LH00995:48:23YTGFLT4:3:1397:19324:18053,LH00995:48:23YTGFLT4:3:2109:36111:18095,LH00995:48:23YTGFLT4:3:2109:42793:5848,LH00995:48:23YTGFLT4:3:2139:20837:8146,LH00995:48:23YTGFLT4:3:2139:20845:8160,LH00995:48:23YTGFLT4:3:2254:33198:1532,LH00995:48:23YTGFLT4:3:2280:20052:25031,LH00995:48:23YTGFLT4:3:2296:19599:27077,LH00995:48:23YTGFLT4:3:2349:15950:27147,LH00995:48:23YTGFLT4:3:2438:26564:17394,LH00995:48:23YTGFLT4:4:1176:16468:22439,LH00995:48:23YTGFLT4:4:1218:49589:11593,LH00995:48:23YTGFLT4:4:1258:19105:21038,LH00995:48:23YTGFLT4:4:1258:19114:21024,LH00995:48:23YTGFLT4:4:1339:36879:22257,LH00995:48:23YTGFLT4:4:1388:46142:4979,LH00995:48:23YTGFLT4:4:1388:46150:4994,LH00995:48:23YTGFLT4:4:1449:49516:7404,LH00995:48:23YTGFLT4:4:2193:35714:4013,LH00995:48:23YTGFLT4:4:2207:24874:12224,LH00995:48:23YTGFLT4:4:2227:20133:6199,LH00995:48:23YTGFLT4:4:2227:20149:6199,LH00995:48:23YTGFLT4:4:2253:48966:22201,LH00995:48:23YTGFLT4:4:2287:21524:19230,LH00995:48:23YTGFLT4:4:2328:31232:29179,LH00995:48:23YTGFLT4:4:2328:31240:29193,LH00995:48:23YTGFLT4:4:2393:7423:7474,LH00995:48:23YTGFLT4:4:2406:37543:10402,LH00995:48:23YTGFLT4:4:2430:48893:27371,LH00995:48:23YTGFLT4:4:2441:9519:16512,LH00995:48:23YTGFLT4:4:2471:6695:14788,LH00995:48:23YTGFLT4:4:2490:6736:11047,LH00995:48:23YTGFLT4:4:2492:30512:8735,LH00995:48:23YTGFLT4:5:1155:23547:17745,LH00995:48:23YTGFLT4:5:1155:23555:17731,LH00995:48:23YTGFLT4:5:1301:30124:12714,LH00995:48:23YTGFLT4:5:1374:13798:2457,LH00995:48:23YTGFLT4:5:1418:27681:15545,LH00995:48:23YTGFLT4:5:1451:4641:1448,LH00995:48:23YTGFLT4:5:1484:26564:17282,LH00995:48:23YTGFLT4:5:1484:26581:17282,LH00995:48:23YTGFLT4:5:2123:33619:11313,LH00995:48:23YTGFLT4:5:2145:13281:7390,LH00995:48:23YTGFLT4:5:2153:45568:19903,LH00995:48:23YTGFLT4:5:2181:15085:18557,LH00995:48:23YTGFLT4:5:2201:7059:25479,LH00995:48:23YTGFLT4:5:2214:27179:11705,LH00995:48:23YTGFLT4:5:2226:22875:22747,LH00995:48:23YTGFLT4:5:2226:28239:24891,LH00995:48:23YTGFLT4:5:2287:28724:3676,LH00995:48:23YTGFLT4:5:2315:5102:21724,LH00995:48:23YTGFLT4:5:2323:19947:5372,LH00995:48:23YTGFLT4:5:2356:44637:3690,LH00995:48:23YTGFLT4:5:2357:16953:15685,LH00995:48:23YTGFLT4:5:2419:17309:20982,LH00995:48:23YTGFLT4:5:2419:17326:20982,LH00995:48:23YTGFLT4:5:2425:38384:24162,LH00995:48:23YTGFLT4:5:2455:14696:19678,LH00995:48:23YTGFLT4:6:1168:48844:14732,LH00995:48:23YTGFLT4:6:1350:11671:16456,LH00995:48:23YTGFLT4:6:1351:13459:23952,LH00995:48:23YTGFLT4:6:1360:16331:4629,LH00995:48:23YTGFLT4:6:1477:50244:9814,LH00995:48:23YTGFLT4:6:2176:33036:12126,LH00995:48:23YTGFLT4:6:2195:48043:24218,LH00995:48:23YTGFLT4:6:2278:43691:25788,LH00995:48:23YTGFLT4:6:2339:18305:19426

ZNF814

-/-

chr19:57874502

chr19:57874584

CDS

duplication/ITD

429

486

medium

in-frame

KRAB_box(96%),Zinc_finger__C2H2_type(9%)|KRAB_box(3%),Zinc_finger__C2H2_type(95%)

ENSG00000204514.10

ENST00000435989.7

upstream

downstream

duplicates(180),homopolymer(2),low_entropy(1)

GCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT|t|ATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATt

LTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKH|yECGECGKSFSKYVSFSNHQRVHTEKKH

LH00995:48:23YTGFLT4:1:1138:33279:27567,LH00995:48:23YTGFLT4:1:1138:33287:27581,LH00995:48:23YTGFLT4:1:1227:30140:29025,LH00995:48:23YTGFLT4:1:1227:30140:29025,LH00995:48:23YTGFLT4:1:1227:30140:29025,LH00995:48:23YTGFLT4:1:1227:30148:29011,LH00995:48:23YTGFLT4:1:1227:30148:29011,LH00995:48:23YTGFLT4:1:1227:30148:29011,LH00995:48:23YTGFLT4:1:1290:30253:8427,LH00995:48:23YTGFLT4:1:1290:30270:8427,LH00995:48:23YTGFLT4:1:1290:30286:8427,LH00995:48:23YTGFLT4:1:1460:36952:26614,LH00995:48:23YTGFLT4:1:2106:19866:10192,LH00995:48:23YTGFLT4:1:2141:42494:7235,LH00995:48:23YTGFLT4:1:2197:37243:20897,LH00995:48:23YTGFLT4:1:2220:39735:20029,LH00995:48:23YTGFLT4:1:2255:38829:26082,LH00995:48:23YTGFLT4:1:2255:38829:26082,LH00995:48:23YTGFLT4:1:2255:38829:26082,LH00995:48:23YTGFLT4:1:2460:44969:15026,LH00995:48:23YTGFLT4:2:1104:31920:6241,LH00995:48:23YTGFLT4:2:1104:31920:6241,LH00995:48:23YTGFLT4:2:1104:31920:6241,LH00995:48:23YTGFLT4:2:1122:43384:10374,LH00995:48:23YTGFLT4:2:1122:43384:10374,LH00995:48:23YTGFLT4:2:1144:21144:4895,LH00995:48:23YTGFLT4:2:2174:5822:25578,LH00995:48:23YTGFLT4:2:2174:5830:25564,LH00995:48:23YTGFLT4:2:2211:29631:10542,LH00995:48:23YTGFLT4:2:2249:44104:26390,LH00995:48:23YTGFLT4:2:2249:44104:26390,LH00995:48:23YTGFLT4:2:2249:44104:26390,LH00995:48:23YTGFLT4:2:2382:30731:10066,LH00995:48:23YTGFLT4:2:2382:30739:10080,LH00995:48:23YTGFLT4:2:2424:1235:27946,LH00995:48:23YTGFLT4:2:2424:1235:27946,LH00995:48:23YTGFLT4:2:2430:37122:3648,LH00995:48:23YTGFLT4:2:2458:26742:20057,LH00995:48:23YTGFLT4:3:1139:2141:20239,LH00995:48:23YTGFLT4:3:1139:2149:20253,LH00995:48:23YTGFLT4:3:1278:21055:23406,LH00995:48:23YTGFLT4:3:1301:29396:7810,LH00995:48:23YTGFLT4:3:1301:29396:7810,LH00995:48:23YTGFLT4:3:1301:29396:7810,LH00995:48:23YTGFLT4:3:1304:29582:17072,LH00995:48:23YTGFLT4:3:1330:23838:19819,LH00995:48:23YTGFLT4:3:2134:7310:29053,LH00995:48:23YTGFLT4:3:2249:48359:12798,LH00995:48:23YTGFLT4:3:2395:6873:11789,LH00995:48:23YTGFLT4:4:1254:50624:13135,LH00995:48:23YTGFLT4:4:1254:50640:13135,LH00995:48:23YTGFLT4:4:1289:49888:3284,LH00995:48:23YTGFLT4:4:1289:49888:3284,LH00995:48:23YTGFLT4:4:1417:8362:9716,LH00995:48:23YTGFLT4:5:1182:35496:12938,LH00995:48:23YTGFLT4:5:1182:35504:12952,LH00995:48:23YTGFLT4:5:1182:35512:12938,LH00995:48:23YTGFLT4:5:1212:46328:17156,LH00995:48:23YTGFLT4:5:1212:46328:17156,LH00995:48:23YTGFLT4:5:1212:46336:17170,LH00995:48:23YTGFLT4:5:1212:46336:17170,LH00995:48:23YTGFLT4:5:1219:44751:20589,LH00995:48:23YTGFLT4:5:1219:44751:20589,LH00995:48:23YTGFLT4:5:1289:49969:12476,LH00995:48:23YTGFLT4:5:1377:28093:25423,LH00995:48:23YTGFLT4:5:1377:28102:25437,LH00995:48:23YTGFLT4:5:1398:49354:9870,LH00995:48:23YTGFLT4:5:1398:49362:9884,LH00995:48:23YTGFLT4:5:1448:1882:22313,LH00995:48:23YTGFLT4:5:1448:1882:22313,LH00995:48:23YTGFLT4:5:1448:1882:22313,LH00995:48:23YTGFLT4:5:1448:1898:22313,LH00995:48:23YTGFLT4:5:1448:1898:22313,LH00995:48:23YTGFLT4:5:1448:1898:22313,LH00995:48:23YTGFLT4:5:1484:41733:15110,LH00995:48:23YTGFLT4:5:1484:41733:15110,LH00995:48:23YTGFLT4:5:2189:3702:24597,LH00995:48:23YTGFLT4:5:2497:18580:21220,LH00995:48:23YTGFLT4:6:1107:41766:16456,LH00995:48:23YTGFLT4:6:1107:41766:16456,LH00995:48:23YTGFLT4:6:1107:41774:16442,LH00995:48:23YTGFLT4:6:1107:41774:16442,LH00995:48:23YTGFLT4:6:1120:46191:18712,LH00995:48:23YTGFLT4:6:1167:36572:14690,LH00995:48:23YTGFLT4:6:1167:36580:14676,LH00995:48:23YTGFLT4:6:1250:12803:3312,LH00995:48:23YTGFLT4:6:1278:21694:25437,LH00995:48:23YTGFLT4:6:1278:21694:25437,LH00995:48:23YTGFLT4:6:1278:21694:25437,LH00995:48:23YTGFLT4:6:1456:48351:15110,LH00995:48:23YTGFLT4:1:1138:33279:27567,LH00995:48:23YTGFLT4:1:1138:33287:27581,LH00995:48:23YTGFLT4:1:1290:30253:8427,LH00995:48:23YTGFLT4:1:1290:30270:8427,LH00995:48:23YTGFLT4:1:1290:30286:8427,LH00995:48:23YTGFLT4:1:1391:10465:17198,LH00995:48:23YTGFLT4:1:1391:10465:17198,LH00995:48:23YTGFLT4:1:1391:10473:17184,LH00995:48:23YTGFLT4:1:1391:10473:17184,LH00995:48:23YTGFLT4:1:2141:42494:7235,LH00995:48:23YTGFLT4:1:2141:42494:7235,LH00995:48:23YTGFLT4:1:2141:42494:7235,LH00995:48:23YTGFLT4:1:2220:39735:20029,LH00995:48:23YTGFLT4:1:2359:4155:4923,LH00995:48:23YTGFLT4:1:2460:44969:15026,LH00995:48:23YTGFLT4:1:2460:44969:15026,LH00995:48:23YTGFLT4:1:2460:44969:15026,LH00995:48:23YTGFLT4:2:1329:12205:8048,LH00995:48:23YTGFLT4:2:2211:29631:10542,LH00995:48:23YTGFLT4:2:2260:47089:10795,LH00995:48:23YTGFLT4:2:2266:35730:3873,LH00995:48:23YTGFLT4:2:2382:30731:10066,LH00995:48:23YTGFLT4:2:2382:30739:10080,LH00995:48:23YTGFLT4:2:2432:17722:18249,LH00995:48:23YTGFLT4:2:2458:26742:20057,LH00995:48:23YTGFLT4:3:1139:2141:20239,LH00995:48:23YTGFLT4:3:1139:2149:20253,LH00995:48:23YTGFLT4:3:1278:21055:23406,LH00995:48:23YTGFLT4:3:1278:21055:23406,LH00995:48:23YTGFLT4:3:1278:21055:23406,LH00995:48:23YTGFLT4:3:1298:5894:21276,LH00995:48:23YTGFLT4:3:1304:29582:17072,LH00995:48:23YTGFLT4:3:1330:10368:24232,LH00995:48:23YTGFLT4:3:1330:10368:24232,LH00995:48:23YTGFLT4:3:1330:10368:24232,LH00995:48:23YTGFLT4:3:1330:23838:19819,LH00995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H00995:48:23YTGFLT4:3:2475:51020:9674,LH00995:48:23YTGFLT4:4:1124:36402:12378,LH00995:48:23YTGFLT4:4:1170:13726:27357,LH00995:48:23YTGFLT4:4:1223:27503:3410,LH00995:48:23YTGFLT4:4:1223:27503:3410,LH00995:48:23YTGFLT4:4:2168:50058:17394,LH00995:48:23YTGFLT4:4:2168:50058:17394,LH00995:48:23YTGFLT4:4:2193:25197:20155,LH00995:48:23YTGFLT4:4:2193:25197:20155,LH00995:48:23YTGFLT4:4:2312:25569:28786,LH00995:48:23YTGFLT4:4:2364:17617:28772,LH00995:48:23YTGFLT4:4:2364:17617:28772,LH00995:48:23YTGFLT4:4:2444:44055:2822,LH00995:48:23YTGFLT4:4:2444:44055:2822,LH00995:48:23YTGFLT4:4:2444:44063:2808,LH00995:48:23YTGFLT4:4:2444:44063:2808,LH00995:48:23YTGFLT4:5:1128:27964:25507,LH00995:48:23YTGFLT4:5:1407:39201:19104,LH00995:48:23YTGFLT4:5:1417:5716:17549,LH00995:48:23YTGFLT4:5:1492:38335:10570,LH00995:48:23YTGFLT4:5:2263:42235:23826,LH00995:48:23YTGFLT4:5:2263:42235:23826,LH00995:48:23YTGFLT4:6:2129:31677:29473,LH00995:48:23YTGFLT4:6:2129:31685:29487,LH00995:48:23YTGFLT4:6:2351:27737:24274,LH00995:48:23YTGFLT4:6:2351:27737:24274,LH00995:48:23YTGFLT4:2:2432:17722:18249,LH00995:48:23YTGFLT4:3:2426:29355:12700,LH00995:48:23YTGFLT4:3:2426:29355:12700,LH00995:48:23YTGFLT4:5:1347:1121:12644,LH00995:48:23YTGFLT4:5:1347:1129:12630

FAM120C

-/-

chrX:54182887

chrX:54182892

CDS

duplication/ITD

458

142

medium

in-frame

ENSG00000184083.12

ENST00000375180.7

upstream

downstream

duplicates(32),low_entropy(16),mismappers(3)

GCGCCGCCAGGGGCTCCGTGCCTCTGCAACCGCCGCTTCCGCCCGCTGCCTTGGGTGCCTACTCCGGGGGCGCGGGGCCGACTCGGCACCATCACCCCGCTCACCACTTCCACCATCATGGCCAAGCGCAGCCCGGGCTGCACCCTCCG|CtgCCGCcGCCGCCGCCGCCGCCCCCTCAGCTGCCCGGGGCCCGGGTGCTGGTGGACGCCGGCTCGGCGCTGCCGCGGCTCTATGGCGGCTACCAGACGGATTGGGTGTGTGGCGGCCAATGGAACGCCATGCTGGGCTACT

AARGSVPLQPPLPPAALGAYSGGAGPTRHHHPAHHFHHHGQAQPGLHPP|lPpPPPPPPQLPGARVLVDAGSALPRLYGGYQTDWVCGGQWNAMLGY

LH00995:48:23YTGFLT4:1:1322:48666:8427,LH00995:48:23YTGFLT4:1:1473:1032:28352,LH00995:48:23YTGFLT4:1:2495:33886:23294,LH00995:48:23YTGFLT4:2:1128:40924:19931,LH00995:48:23YTGFLT4:2:1204:11768:13261,LH00995:48:23YTGFLT4:2:1304:11849:26264,LH00995:48:23YTGFLT4:2:2355:15797:21500,LH00995:48:23YTGFLT4:2:2384:46037:2387,LH00995:48:23YTGFLT4:3:1344:9907:28254,LH00995:48:23YTGFLT4:3:1439:16719:23938,LH00995:48:23YTGFLT4:3:2293:41191:28156,LH00995:48:23YTGFLT4:3:2321:16339:3326,LH00995:48:23YTGFLT4:4:1427:1938:12518,LH00995:48:23YTGFLT4:4:1465:18135:24513,LH00995:48:23YTGFLT4:4:2291:37769:13345,LH00995:48:23YTGFLT4:4:2307:29412:27595,LH00995:48:23YTGFLT4:4:2362:39686:13695,LH00995:48:23YTGFLT4:5:2425:15926:25311,LH00995:48:23YTGFLT4:5:2483:3217:13079,LH00995:48:23YTGFLT4:5:2483:3225:13065,LH00995:48:23YTGFLT4:6:2174:43254:23013,LH00995:48:23YTGFLT4:6:2301:51279:10234,LH00995:48:23YTGFLT4:1:1322:48666:8427,LH00995:48:23YTGFLT4:1:2495:33886:23294,LH00995:48:23YTGFLT4:2:2355:15797:21500,LH00995:48:23YTGFLT4:2:2384:46037:2387,LH00995:48:23YTGFLT4:3:1344:9907:28254,LH00995:48:23YTGFLT4:3:1439:16719:23938,LH00995:48:23YTGFLT4:3:2293:41191:28156,LH00995:48:23YTGFLT4:4:1427:1938:12518,LH00995:48:23YTGFLT4:4:1465:18135:24513,LH00995:48:23YTGFLT4:5:2425:15926:25311,LH00995:48:23YTGFLT4:6:2174:43254:23013,LH00995:48:23YTGFLT4:6:2301:51279:10234,LH00995:48:23YTGFLT4:1:1167:26977:8581,LH00995:48:23YTGFLT4:1:1376:19453:15727,LH00995:48:23YTGFLT4:1:2129:41685:18109,LH00995:48:23YTGFLT4:1:2275:13612:20883,LH00995:48:23YTGFLT4:1:2276:15748:9814,LH00995:48:23YTGFLT4:2:1160:47445:22901,LH00995:48:23YTGFLT4:2:1236:1283:2387,LH00995:48:23YTGFLT4:2:1236:1291:2373,LH00995:48:23YTGFLT4:2:1314:20359:16792,LH00995:48:23YTGFLT4:2:1363:24469:16736,LH00995:48:23YTGFLT4:2:1378:30933:9295,LH00995:48:23YTGFLT4:2:1384:13289:3620,LH00995:48:23YTGFLT4:2:1438:42680:27483,LH00995:48:23YTGFLT4:2:1465:31880:11215,LH00995:48:23YTGFLT4:2:2440:11703:10654,LH00995:48:23YTGFLT4:2:2440:11703:10682,LH00995:48:23YTGFLT4:2:2440:11711:10668,LH00995:48:23YTGFLT4:2:2485:50292:13513,LH00995:48:23YTGFLT4:3:1363:26791:3830,LH00995:48:23YTGFLT4:3:2150:19955:9814,LH00995:48:23YTGFLT4:3:2264:3281:26699,LH00995:48:23YTGFLT4:4:1478:43028:18529,LH00995:48:23YTGFLT4:4:2227:12019:27539,LH00995:48:23YTGFLT4:4:2394:12981:2695,LH00995:48:23YTGFLT4:4:2455:37591:24499,LH00995:48:23YTGFLT4:4:2463:10773:1252,LH00995:48:23YTGFLT4:4:2468:16047:27876,LH00995:48:23YTGFLT4:5:1478:2448:1911,LH00995:48:23YTGFLT4:5:2147:28619:24709,LH00995:48:23YTGFLT4:5:2147:28635:24709,LH00995:48:23YTGFLT4:5:2335:28368:17492,LH00995:48:23YTGFLT4:5:2353:32769:11103,LH00995:48:23YTGFLT4:6:1106:47291:9211,LH00995:48:23YTGFLT4:6:1106:47299:9197,LH00995:48:23YTGFLT4:6:1250:36936:13275,LH00995:48:23YTGFLT4:6:1250:36944:13289,LH00995:48:23YTGFLT4:6:1250:36952:13275,LH00995:48:23YTGFLT4:6:1358:52056:5834,LH00995:48:23YTGFLT4:6:1470:52121:3144,LH00995:48:23YTGFLT4:6:2340:18191:16680,LH00995:48:23YTGFLT4:1:1473:1032:28352,LH00995:48:23YTGFLT4:2:1128:40924:19931,LH00995:48:23YTGFLT4:2:1204:11768:13261,LH00995:48:23YTGFLT4:2:1304:11849:26264,LH00995:48:23YTGFLT4:3:2321:16339:3326,LH00995:48:23YTGFLT4:4:2291:37769:13345,LH00995:48:23YTGFLT4:4:2307:29412:27595,LH00995:48:23YTGFLT4:4:2362:39686:13695,LH00995:48:23YTGFLT4:5:2483:3217:13079,LH00995:48:23YTGFLT4:5:2483:3225:13065

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

3491

178

medium

stop-codon

emp24/gp25L/p24_family/GOLD(86%)|TIR_domain(100%)

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(11),low_entropy(1),mismappers(3)

CACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG___ATGGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGG

LH00995:48:23YTGFLT4:1:1180:12407:10472,LH00995:48:23YTGFLT4:1:1265:32842:16273,LH00995:48:23YTGFLT4:1:1265:32858:16273,LH00995:48:23YTGFLT4:1:2238:30787:21542,LH00995:48:23YTGFLT4:1:2368:11258:15797,LH00995:48:23YTGFLT4:1:2368:11266:15783,LH00995:48:23YTGFLT4:1:2368:11282:15783,LH00995:48:23YTGFLT4:2:1232:5805:15769,LH00995:48:23YTGFLT4:2:1344:11493:19146,LH00995:48:23YTGFLT4:2:1470:20044:8174,LH00995:48:23YTGFLT4:2:1491:47340:7025,LH00995:48:23YTGFLT4:3:1185:45010:23700,LH00995:48:23YTGFLT4:3:1197:8904:19370,LH00995:48:23YTGFLT4:3:1224:17220:5442,LH00995:48:23YTGFLT4:4:1210:49305:22173,LH00995:48:23YTGFLT4:4:1244:1040:18333,LH00995:48:23YTGFLT4:5:1159:19453:23013,LH00995:48:23YTGFLT4:5:1390:13329:21710,LH00995:48:23YTGFLT4:5:2370:44524:26110,LH00995:48:23YTGFLT4:5:2462:7877:13359,LH00995:48:23YTGFLT4:6:2104:3079:18810,LH00995:48:23YTGFLT4:6:2161:4422:4909,LH00995:48:23YTGFLT4:6:2231:48399:21864,LH00995:48:23YTGFLT4:2:1456:32430:11159,LH00995:48:23YTGFLT4:2:2202:44379:28184,LH00995:48:23YTGFLT4:2:2318:20626:14816,LH00995:48:23YTGFLT4:3:1328:11816:23097,LH00995:48:23YTGFLT4:3:1328:11824:23111,LH00995:48:23YTGFLT4:3:1328:11833:23125,LH00995:48:23YTGFLT4:3:2447:21589:20547,LH00995:48:23YTGFLT4:4:1349:50155:22607,LH00995:48:23YTGFLT4:4:2386:27082:20505,LH00995:48:23YTGFLT4:4:2386:27090:20519,LH00995:48:23YTGFLT4:4:2490:10384:11846,LH00995:48:23YTGFLT4:4:2490:10401:11846,LH00995:48:23YTGFLT4:5:1125:2934:17324,LH00995:48:23YTGFLT4:5:1459:41588:7235,LH00995:48:23YTGFLT4:5:2202:2731:20869,LH00995:48:23YTGFLT4:5:2311:30383:1673,LH00995:48:23YTGFLT4:5:2375:1421:22663,LH00995:48:23YTGFLT4:6:1255:13645:13709,LH00995:48:23YTGFLT4:6:1423:26225:21570,LH00995:48:23YTGFLT4:6:2147:30755:5596,LH00995:48:23YTGFLT4:2:1413:39945:8118,LH00995:48:23YTGFLT4:3:1263:12755:10346,LH00995:48:23YTGFLT4:4:1429:35051:18922

TMED7

TICAM2

-/-

chr5:115620435

chr5:115581315

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3781

178

low

out-of-frame

emp24/gp25L/p24_family/GOLD(62%)|TIR_domain(100%)

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(1)

TCTACTTTCACACATAAAACTGTATATTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGA

STFTHKTVYFDFQVGEDPPLFPSENRVSALTQ|iekkc*

LH00995:48:23YTGFLT4:2:2213:12172:1378,LH00995:48:23YTGFLT4:2:2440:18013:2583,LH00995:48:23YTGFLT4:3:1355:13944:12658

KRTAP9-1

+/-

chr17:41190343

chr17:41190369

CDS

duplication/ITD

medium

ENSG00000240542.4

upstream

downstream

duplicates(33)

GCTGGCAACAGGGTGTGCTGCAGCATCTGGTCACACAGGATGGTTGGCAGCAGGTGGATCTACAAATGGTTTGACAGCATGTTGGGTGGCAGCAAGGCTGGCAGCAGCTGGACCCACAGC|t|AGGCTGGCAGCAGCTGGACCCACAGCAGGTGGGCTGGCAAGAGGTGTTCCTGCAGCAGGTGGGCTGGCAGCAGGTAGGCTGGCAGCAGGTGGTCCTGAAGCAGgTAGTTTGATAGCAAGTCGGGTGACAGCAA

LH00995:48:23YTGFLT4:1:1270:14543:14704,LH00995:48:23YTGFLT4:1:2313:17900:22873,LH00995:48:23YTGFLT4:2:1276:22746:18740,LH00995:48:23YTGFLT4:2:2346:44152:4755,LH00995:48:23YTGFLT4:2:2438:13442:20113,LH00995:48:23YTGFLT4:2:2486:25440:12308,LH00995:48:23YTGFLT4:3:1417:39767:11341,LH00995:48:23YTGFLT4:3:1417:39783:11341,LH00995:48:23YTGFLT4:3:2146:35981:23308,LH00995:48:23YTGFLT4:3:2422:37834:11243,LH00995:48:23YTGFLT4:4:2206:1526:5890,LH00995:48:23YTGFLT4:4:2275:39169:10248,LH00995:48:23YTGFLT4:4:2308:29558:21570,LH00995:48:23YTGFLT4:5:1112:37146:10949,LH00995:48:23YTGFLT4:5:1418:11857:4979,LH00995:48:23YTGFLT4:6:1170:51401:23896,LH00995:48:23YTGFLT4:6:1408:25634:11215,LH00995:48:23YTGFLT4:6:1483:24542:7474,LH00995:48:23YTGFLT4:6:2237:22099:14256,LH00995:48:23YTGFLT4:6:2271:7731:4083,LH00995:48:23YTGFLT4:5:1264:28911:11369,LH00995:48:23YTGFLT4:1:1162:4406:15026,LH00995:48:23YTGFLT4:1:1270:14543:14704,LH00995:48:23YTGFLT4:1:1273:36337:24765,LH00995:48:23YTGFLT4:1:1435:24987:15026,LH00995:48:23YTGFLT4:1:2313:17900:22873,LH00995:48:23YTGFLT4:2:1147:31216:28422,LH00995:48:23YTGFLT4:2:1147:31224:28436,LH00995:48:23YTGFLT4:2:1147:31232:28450,LH00995:48:23YTGFLT4:2:1147:31249:28450,LH00995:48:23YTGFLT4:2:1276:22746:18740,LH00995:48:23YTGFLT4:2:2346:44152:4755,LH00995:48:23YTGFLT4:2:2438:13442:20113,LH00995:48:23YTGFLT4:2:2486:25440:12308,LH00995:48:23YTGFLT4:3:1289:33028:9505,LH00995:48:23YTGFLT4:3:1417:39767:11341,LH00995:48:23YTGFLT4:3:1417:39783:11341,LH00995:48:23YTGFLT4:3:2146:35981:23308,LH00995:48:23YTGFLT4:3:2422:37834:11243,LH00995:48:23YTGFLT4:4:2206:1526:5890,LH00995:48:23YTGFLT4:4:2275:39169:10248,LH00995:48:23YTGFLT4:4:2308:29558:21570,LH00995:48:23YTGFLT4:5:1112:37146:10949,LH00995:48:23YTGFLT4:5:1418:11857:4979,LH00995:48:23YTGFLT4:6:1170:51401:23896,LH00995:48:23YTGFLT4:6:1408:25634:11215,LH00995:48:23YTGFLT4:6:1483:24542:7474,LH00995:48:23YTGFLT4:6:2237:22099:14256,LH00995:48:23YTGFLT4:6:2271:7731:4083,LH00995:48:23YTGFLT4:1:1162:4406:15026,LH00995:48:23YTGFLT4:1:1162:4406:15026,LH00995:48:23YTGFLT4:1:1273:36337:24765,LH00995:48:23YTGFLT4:1:1435:24987:15026,LH00995:48:23YTGFLT4:1:2378:48812:7278,LH00995:48:23YTGFLT4:2:1147:31216:28422,LH00995:48:23YTGFLT4:2:1147:31224:28436,LH00995:48:23YTGFLT4:2:1147:31232:28450,LH00995:48:23YTGFLT4:2:1147:31249:28450,LH00995:48:23YTGFLT4:2:1457:33789:4321,LH00995:48:23YTGFLT4:3:1289:33028:9505,LH00995:48:23YTGFLT4:4:1454:29574:9688,LH00995:48:23YTGFLT4:5:1264:28911:11369

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

1406

medium

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(19)

GCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACGAGGTGCTGAAATCTTGG

LH00995:48:23YTGFLT4:1:1335:15198:7768,LH00995:48:23YTGFLT4:1:2127:12043:8384,LH00995:48:23YTGFLT4:1:2259:1938:6213,LH00995:48:23YTGFLT4:1:2371:3929:8230,LH00995:48:23YTGFLT4:1:2415:50988:1098,LH00995:48:23YTGFLT4:2:1171:14090:4979,LH00995:48:23YTGFLT4:2:1187:32842:1953,LH00995:48:23YTGFLT4:2:1254:27932:14101,LH00995:48:23YTGFLT4:2:1479:2302:6563,LH00995:48:23YTGFLT4:2:2106:22083:9547,LH00995:48:23YTGFLT4:2:2408:7003:19496,LH00995:48:23YTGFLT4:2:2418:48593:14830,LH00995:48:23YTGFLT4:3:1121:12763:6128,LH00995:48:23YTGFLT4:3:1288:48351:13737,LH00995:48:23YTGFLT4:3:2135:27648:6185,LH00995:48:23YTGFLT4:3:2432:23045:8833,LH00995:48:23YTGFLT4:3:2444:44047:27777,LH00995:48:23YTGFLT4:4:1322:37170:9562,LH00995:48:23YTGFLT4:4:1322:37187:9562,LH00995:48:23YTGFLT4:4:1486:20173:28716,LH00995:48:23YTGFLT4:4:1486:20189:28716,LH00995:48:23YTGFLT4:4:1486:20198:28730,LH00995:48:23YTGFLT4:4:2267:4309:27273,LH00995:48:23YTGFLT4:5:1167:27673:9674,LH00995:48:23YTGFLT4:5:1181:13451:14494,LH00995:48:23YTGFLT4:5:1181:13467:14494,LH00995:48:23YTGFLT4:5:1225:41094:19664,LH00995:48:23YTGFLT4:5:1225:41102:19650,LH00995:48:23YTGFLT4:5:1225:41110:19636,LH00995:48:23YTGFLT4:5:1394:13297:25157,LH00995:48:23YTGFLT4:5:1426:10158:11593,LH00995:48:23YTGFLT4:5:1443:17334:2107,LH00995:48:23YTGFLT4:5:2174:48116:5176,LH00995:48:23YTGFLT4:5:2214:31321:23252,LH00995:48:23YTGFLT4:6:1190:1882:27217,LH00995:48:23YTGFLT4:6:1190:37454:5260,LH00995:48:23YTGFLT4:6:1281:6623:27441,LH00995:48:23YTGFLT4:6:1378:4713:24779,LH00995:48:23YTGFLT4:6:1378:4729:24779,LH00995:48:23YTGFLT4:6:1496:47825:9940,LH00995:48:23YTGFLT4:6:1496:47833:9954,LH00995:48:23YTGFLT4:6:2251:50478:9071,LH00995:48:23YTGFLT4:1:2428:29024:26839,LH00995:48:23YTGFLT4:2:1159:48011:24835,LH00995:48:23YTGFLT4:5:2161:33837:3116,LH00995:48:23YTGFLT4:6:2343:28902:27553

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

1406

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(2)

CTCAAGTCCTGCCCAAAGACCGTCCAGAAACCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAA

LH00995:48:23YTGFLT4:1:1497:42138:28786,LH00995:48:23YTGFLT4:1:2171:33578:22060,LH00995:48:23YTGFLT4:1:2244:42809:4615,LH00995:48:23YTGFLT4:2:2258:36693:26558,LH00995:48:23YTGFLT4:4:2153:27106:9281,LH00995:48:23YTGFLT4:4:2360:43772:14774,LH00995:48:23YTGFLT4:6:1134:44743:21780,LH00995:48:23YTGFLT4:6:2162:27859:26222,LH00995:48:23YTGFLT4:3:1140:9842:12952,LH00995:48:23YTGFLT4:3:1140:9859:12952,LH00995:48:23YTGFLT4:6:2353:16541:12448

AC092807.3

DDAH1

-/-

chr1:85488291

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

1406

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000488557.6

ENST00000284031.13

upstream

downstream

duplicates(1)

AGAGAGCCCTCACCAGAATCTGACCATGCTGGTGCCCTGATCTTGGACTTTCAGCCTCCAGAACT|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACGAG

LH00995:48:23YTGFLT4:1:2118:23094:8104,LH00995:48:23YTGFLT4:3:1355:51943:10430,LH00995:48:23YTGFLT4:3:1355:51951:10444,LH00995:48:23YTGFLT4:5:1462:36823:3606,LH00995:48:23YTGFLT4:6:1440:5571:8973

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000242419.5

ENST00000611914.1

ENST00000306593.1

downstream

upstream

duplicates(22),mismappers(1)

TCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACCGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGCGCCCG

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

LH00995:48:23YTGFLT4:1:1309:50899:6072,LH00995:48:23YTGFLT4:1:2134:33142:13793,LH00995:48:23YTGFLT4:1:2134:33158:13793,LH00995:48:23YTGFLT4:1:2251:39654:26502,LH00995:48:23YTGFLT4:2:2142:9778:6507,LH00995:48:23YTGFLT4:3:1341:5061:14844,LH00995:48:23YTGFLT4:4:1150:25375:28030,LH00995:48:23YTGFLT4:4:1216:24987:24134,LH00995:48:23YTGFLT4:4:1216:24995:24120,LH00995:48:23YTGFLT4:4:1216:25003:24134,LH00995:48:23YTGFLT4:4:2303:41321:3859,LH00995:48:23YTGFLT4:5:1486:12512:8889,LH00995:48:23YTGFLT4:5:1486:12520:8875,LH00995:48:23YTGFLT4:5:2220:32705:6086,LH00995:48:23YTGFLT4:5:2356:51376:21276,LH00995:48:23YTGFLT4:5:2379:43367:11075,LH00995:48:23YTGFLT4:6:1245:48181:7642,LH00995:48:23YTGFLT4:6:2102:41604:20295,LH00995:48:23YTGFLT4:6:2281:52145:10164,LH00995:48:23YTGFLT4:6:2281:52161:10164,LH00995:48:23YTGFLT4:1:2197:4260:14073,LH00995:48:23YTGFLT4:2:2174:49136:9716,LH00995:48:23YTGFLT4:2:2275:22851:25395,LH00995:48:23YTGFLT4:3:1243:20287:5932,LH00995:48:23YTGFLT4:3:1433:41175:7362,LH00995:48:23YTGFLT4:3:2121:51166:25620,LH00995:48:23YTGFLT4:3:2181:18863:25101,LH00995:48:23YTGFLT4:3:2262:48302:26937,LH00995:48:23YTGFLT4:3:2353:1987:20701,LH00995:48:23YTGFLT4:4:1215:45932:8202,LH00995:48:23YTGFLT4:4:1338:22010:21724,LH00995:48:23YTGFLT4:4:1403:24704:20225,LH00995:48:23YTGFLT4:4:1403:24712:20211,LH00995:48:23YTGFLT4:4:2108:32867:18249,LH00995:48:23YTGFLT4:5:1298:36968:29557,LH00995:48:23YTGFLT4:5:1462:31321:15713,LH00995:48:23YTGFLT4:5:2206:32753:14942,LH00995:48:23YTGFLT4:6:1352:8297:29305,LH00995:48:23YTGFLT4:6:1360:11824:19748,LH00995:48:23YTGFLT4:6:2152:31807:15208,LH00995:48:23YTGFLT4:6:2152:31815:15194,LH00995:48:23YTGFLT4:6:2185:35747:9309,LH00995:48:23YTGFLT4:6:2185:35755:9295,LH00995:48:23YTGFLT4:6:2309:31168:19230,LH00995:48:23YTGFLT4:6:2309:31176:19244

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253873.6

ENST00000611914.1

ENST00000398587.7

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000240764.4

ENST00000611914.1

ENST00000252087.3

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000254122.3

ENST00000611914.1

ENST00000398594.4

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253767.3

ENST00000611914.1

ENST00000398604.3

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253846.2

ENST00000611914.1

ENST00000398610.2

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000261934.2

ENST00000611914.1

ENST00000573521.1

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253305.2

ENST00000611914.1

ENST00000520790.1

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000253159.3

ENST00000611914.1

ENST00000252085.4

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253485.2

ENSG00000240184.7

ENST00000611914.1

ENST00000308177.5

downstream

upstream

duplicates(22),mismappers(1)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

NPIPA3

+/+

chr16:14726287

chr16:14726229

CDS

duplication/ITD

249

376

medium

out-of-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000224712.12

ENST00000531598.6

downstream

upstream

duplicates(73)

ATCTCAAGACACCTCCCGAGTGTCTG?TCACTCCCCTTCCACCCTCAGCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCG

LKTPPECL?TPLPPSAPPSVDDNLKTPPeCVCSLPFHPQRMIISR|hlpsvsahspstls

LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:3:1440:31143:1448,LH00995:48:23YTGFLT4:1:2109:41960:12224,LH00995:48:23YTGFLT4:1:2109:41960:12224,LH00995:48:23YTGFLT4:1:2109:41960:12224,LH00995:48:23YTGFLT4:1:2411:48205:15419,LH00995:48:23YTGFLT4:1:2411:48205:15419,LH00995:48:23YTGFLT4:1:2411:48205:15419,LH00995:48:23YTGFLT4:1:2425:7432:11187,LH00995:48:23YTGFLT4:1:2425:7432:11187,LH00995:48:23YTGFLT4:1:2425:7432:11187,LH00995:48:23YTGFLT4:1:2450:6259:27679,LH00995:48:23YTGFLT4:1:2450:6259:27679,LH00995:48:23YTGFLT4:1:2450:6259:27679,LH00995:48:23YTGFLT4:2:1412:13831:10080,LH00995:48:23YTGFLT4:2:1412:13831:10080,LH00995:48:23YTGFLT4:2:1412:13831:10080,LH00995:48:23YTGFLT4:2:1485:50737:10500,LH00995:48:23YTGFLT4:2:1485:50737:10500,LH00995:48:23YTGFLT4:2:1485:50737:10500,LH00995:48:23YTGFLT4:2:2413:36491:6199,LH00995:48:23YTGFLT4:2:2413:36491:6199,LH00995:48:23YTGFLT4:2:2413:36491:6199,LH00995:48:23YTGFLT4:3:1453:38303:21668,LH00995:48:23YTGFLT4:3:1453:38303:21668,LH00995:48:23YTGFLT4:3:1453:38303:21668,LH00995:48:23YTGFLT4:3:2298:19736:23952,LH00995:48:23YTGFLT4:3:2298:19736:23952,LH00995:48:23YTGFLT4:3:2298:19736:23952,LH00995:48:23YTGFLT4:4:1387:35294:22789,LH00995:48:23YTGFLT4:4:1387:35294:22789,LH00995:48:23YTGFLT4:4:1387:35294:22789,LH00995:48:23YTGFLT4:4:2394:50009:28184,LH00995:48:23YTGFLT4:4:2394:50009:28184,LH00995:48:23YTGFLT4:4:2394:50009:28184,LH00995:48:23YTGFLT4:4:2394:50017:28198,LH00995:48:23YTGFLT4:4:2394:50017:28198,LH00995:48:23YTGFLT4:4:2394:50017:28198,LH00995:48:23YTGFLT4:4:2444:35957:8497,LH00995:48:23YTGFLT4:4:2444:35957:8497,LH00995:48:23YTGFLT4:4:2470:10473:10935,LH00995:48:23YTGFLT4:4:2470:10473:10935,LH00995:48:23YTGFLT4:4:2470:10473:10935,LH00995:48:23YTGFLT4:5:1211:29768:8370,LH00995:48:23YTGFLT4:5:1211:29768:8370,LH00995:48:23YTGFLT4:5:1211:29768:8370,LH00995:48:23YTGFLT4:5:1276:27414:15307,LH00995:48:23YTGFLT4:5:1276:27414:15307,LH00995:48:23YTGFLT4:5:1276:27414:15307,LH00995:48:23YTGFLT4:5:1278:8912:5092,LH00995:48:23YTGFLT4:5:1278:8912:5092,LH00995:48:23YTGFLT4:5:1278:8912:5092,LH00995:48:23YTGFLT4:5:1305:15894:10066,LH00995:48:23YTGFLT4:5:1305:15894:10066,LH00995:48:23YTGFLT4:5:1305:15894:10066,LH00995:48:23YTGFLT4:5:1342:28312:10753,LH00995:48:23YTGFLT4:5:1342:28312:10753,LH00995:48:23YTGFLT4:5:1342:28312:10753,LH00995:48:23YTGFLT4:5:2250:43529:6619,LH00995:48:23YTGFLT4:5:2250:43529:6619,LH00995:48:23YTGFLT4:5:2250:43529:6619,LH00995:48:23YTGFLT4:5:2250:43537:6605,LH00995:48:23YTGFLT4:5:2250:43537:6605,LH00995:48:23YTGFLT4:5:2250:43537:6605,LH00995:48:23YTGFLT4:5:2290:38133:2093,LH00995:48:23YTGFLT4:5:2290:38133:2093,LH00995:48:23YTGFLT4:5:2290:38133:2093,LH00995:48:23YTGFLT4:6:1167:30626:10500,LH00995:48:23YTGFLT4:6:1167:30626:10500,LH00995:48:23YTGFLT4:6:1167:30626:10500,LH00995:48:23YTGFLT4:6:1240:7610:17184,LH00995:48:23YTGFLT4:6:1240:7610:17184,LH00995:48:23YTGFLT4:6:1240:7610:17184,LH00995:48:23YTGFLT4:6:1240:7626:17184,LH00995:48:23YTGFLT4:6:1240:7626:17184,LH00995:48:23YTGFLT4:6:1240:7626:17184,LH00995:48:23YTGFLT4:6:2153:14235:20561,LH00995:48:23YTGFLT4:6:2153:14235:20561,LH00995:48:23YTGFLT4:6:2153:14235:20561,LH00995:48:23YTGFLT4:6:2160:15295:24274,LH00995:48:23YTGFLT4:6:2160:15295:24274,LH00995:48:23YTGFLT4:6:2160:15295:24274

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

391

650

medium

in-frame

Tetratricopeptide_repeat(100%)|Acyl-CoA_dehydrogenase__C-terminal_domain(100%),Acyl-CoA_dehydrogenase__N-terminal_domain(100%),Acyl-CoA_dehydrogenase__middle_domain(100%),Phosphotransferase_enzyme_family(97%)

ENSG00000113971.20

ENSG00000240303.8

ENST00000337331.10

ENST00000264990.11

upstream

downstream

duplicates(12),mismappers(2)

AAAAGGGCAATGGAAATAAAAGAAGCAGAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCACCAGGTTCACTTCTTCCTAAAGCACATCAG___ATTGATAGAGAATTTAAAGTCCAGAAAGCCTTGTTTTCAATTGGATTCCCCGTTCCCAAGCC

KRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKKPPGSLLPKAHQIDREFKVQKALFSIGFPVPK

LH00995:48:23YTGFLT4:1:1203:41223:6577,LH00995:48:23YTGFLT4:1:1497:25173:27651,LH00995:48:23YTGFLT4:1:1497:25181:27637,LH00995:48:23YTGFLT4:1:2481:17156:11495,LH00995:48:23YTGFLT4:2:1468:17965:14186,LH00995:48:23YTGFLT4:3:1287:2845:12462,LH00995:48:23YTGFLT4:3:1461:26799:16932,LH00995:48:23YTGFLT4:4:1384:50033:11103,LH00995:48:23YTGFLT4:4:1384:50050:11103,LH00995:48:23YTGFLT4:5:2134:43934:9197,LH00995:48:23YTGFLT4:1:2162:17544:27609,LH00995:48:23YTGFLT4:1:2249:22867:2611,LH00995:48:23YTGFLT4:1:2487:33781:3018,LH00995:48:23YTGFLT4:2:2183:36928:16736,LH00995:48:23YTGFLT4:2:2225:48869:16792,LH00995:48:23YTGFLT4:3:1152:41701:28786,LH00995:48:23YTGFLT4:3:1317:3929:17366,LH00995:48:23YTGFLT4:3:2243:20821:27707,LH00995:48:23YTGFLT4:3:2468:22972:23448,LH00995:48:23YTGFLT4:4:1187:35374:15503,LH00995:48:23YTGFLT4:4:1497:1129:3606,LH00995:48:23YTGFLT4:4:2229:43375:1953,LH00995:48:23YTGFLT4:4:2315:31540:25255,LH00995:48:23YTGFLT4:5:1165:25772:17731,LH00995:48:23YTGFLT4:5:1195:26815:4797,LH00995:48:23YTGFLT4:5:1303:48221:29459,LH00995:48:23YTGFLT4:5:2217:7553:13471,LH00995:48:23YTGFLT4:5:2245:40083:12981,LH00995:48:23YTGFLT4:5:2340:38133:16526,LH00995:48:23YTGFLT4:5:2472:47429:21892,LH00995:48:23YTGFLT4:6:1488:19243:12952,LH00995:48:23YTGFLT4:6:1488:19251:12938,LH00995:48:23YTGFLT4:6:2145:30723:22215

PCDHGB3

PCDHGC4

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000242419.5

ENST00000618934.1

ENST00000306593.1

downstream

upstream

duplicates(19),low_entropy(1)

TGCCTCACATTCCTCAAACACCGAGTTTAAATTTCTCAATATAAAGGCTGAAAATGCTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGC

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

LH00995:48:23YTGFLT4:1:1332:5247:8469,LH00995:48:23YTGFLT4:2:1455:5174:25690,LH00995:48:23YTGFLT4:3:1115:26395:4909,LH00995:48:23YTGFLT4:3:1174:50430:14648,LH00995:48:23YTGFLT4:3:2171:39452:13877,LH00995:48:23YTGFLT4:3:2326:18256:23153,LH00995:48:23YTGFLT4:4:1372:50923:27721,LH00995:48:23YTGFLT4:4:2157:41903:5316,LH00995:48:23YTGFLT4:4:2309:27050:17394,LH00995:48:23YTGFLT4:4:2338:4034:16063,LH00995:48:23YTGFLT4:5:1230:43286:6199,LH00995:48:23YTGFLT4:5:1458:8491:26699,LH00995:48:23YTGFLT4:5:2154:28733:12238,LH00995:48:23YTGFLT4:5:2291:34557:16049,LH00995:48:23YTGFLT4:5:2498:27551:13639,LH00995:48:23YTGFLT4:6:1225:43440:22971,LH00995:48:23YTGFLT4:6:1406:29291:1715,LH00995:48:23YTGFLT4:6:1406:29299:1729,LH00995:48:23YTGFLT4:6:2386:28894:13723,LH00995:48:23YTGFLT4:1:1128:42971:26334,LH00995:48:23YTGFLT4:1:1458:44516:11916,LH00995:48:23YTGFLT4:2:1207:34986:26348,LH00995:48:23YTGFLT4:2:1402:48553:23392,LH00995:48:23YTGFLT4:2:1402:48561:23406,LH00995:48:23YTGFLT4:2:1453:2958:17955,LH00995:48:23YTGFLT4:2:2214:33101:6997,LH00995:48:23YTGFLT4:2:2402:49467:21668,LH00995:48:23YTGFLT4:2:2450:32559:29403,LH00995:48:23YTGFLT4:3:1315:30682:27385,LH00995:48:23YTGFLT4:3:2153:20448:29557,LH00995:48:23YTGFLT4:4:1477:14405:15391,LH00995:48:23YTGFLT4:4:1477:14405:15419,LH00995:48:23YTGFLT4:4:1477:14413:15405,LH00995:48:23YTGFLT4:4:2472:14276:18950,LH00995:48:23YTGFLT4:6:1152:19138:14087,LH00995:48:23YTGFLT4:6:1197:24688:18740,LH00995:48:23YTGFLT4:6:1495:18863:15040,LH00995:48:23YTGFLT4:6:2248:44306:12756,LH00995:48:23YTGFLT4:6:2248:44314:12770

PCDHGB3

PCDHGA11

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000253873.6

ENST00000618934.1

ENST00000398587.7

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGB3

PCDHGC5

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000240764.4

ENST00000618934.1

ENST00000252087.3

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGB3

PCDHGB7

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000254122.3

ENST00000618934.1

ENST00000398594.4

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGB3

PCDHGA8

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000253767.3

ENST00000618934.1

ENST00000398604.3

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGB3

PCDHGA10

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000253846.2

ENST00000618934.1

ENST00000398610.2

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGB3

PCDHGA9

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000261934.2

ENST00000618934.1

ENST00000573521.1

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGB3

PCDHGB6

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000253305.2

ENST00000618934.1

ENST00000520790.1

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGB3

PCDHGA12

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000253159.3

ENST00000618934.1

ENST00000252085.4

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGB3

PCDHGC3

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

143

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262209.3

ENSG00000240184.7

ENST00000618934.1

ENST00000308177.5

downstream

upstream

duplicates(19),low_entropy(1)

ASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

533

medium

in-frame

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(100%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000403751.8

downstream

upstream

duplicates(10),mismappers(1)

CTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACC

SDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLH

LH00995:48:23YTGFLT4:1:2440:50163:4013,LH00995:48:23YTGFLT4:1:2477:44937:11551,LH00995:48:23YTGFLT4:2:1229:39711:12672,LH00995:48:23YTGFLT4:2:2241:14947:13079,LH00995:48:23YTGFLT4:2:2241:14955:13065,LH00995:48:23YTGFLT4:3:1190:17593:18053,LH00995:48:23YTGFLT4:4:2350:27212:5568,LH00995:48:23YTGFLT4:1:1255:47178:27567,LH00995:48:23YTGFLT4:1:1327:3298:3046,LH00995:48:23YTGFLT4:2:2417:27009:13625,LH00995:48:23YTGFLT4:3:2233:22066:13219,LH00995:48:23YTGFLT4:4:1262:48966:14914,LH00995:48:23YTGFLT4:4:1494:11436:9519,LH00995:48:23YTGFLT4:4:2202:37122:27189,LH00995:48:23YTGFLT4:4:2453:33959:4083,LH00995:48:23YTGFLT4:5:1157:26783:25956,LH00995:48:23YTGFLT4:5:1157:26799:25956,LH00995:48:23YTGFLT4:5:1382:42809:17282,LH00995:48:23YTGFLT4:5:1447:18175:5722,LH00995:48:23YTGFLT4:5:1454:8362:20309,LH00995:48:23YTGFLT4:5:1472:16225:21850,LH00995:48:23YTGFLT4:5:2133:23579:11747,LH00995:48:23YTGFLT4:5:2361:32195:19104,LH00995:48:23YTGFLT4:6:1163:10862:27161,LH00995:48:23YTGFLT4:6:1186:4786:19580,LH00995:48:23YTGFLT4:6:2254:42866:23798,LH00995:48:23YTGFLT4:6:2254:42874:23812,LH00995:48:23YTGFLT4:6:2254:42882:23798,LH00995:48:23YTGFLT4:6:2263:9300:23868

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

533

122

medium

in-frame

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(93%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

duplicates(1)

TCTAGATCATCCCCATTGTCTGTCATACAAATTAGAGCTTGGATCAGACCAAGAAATTCCCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACTG

LDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLPSFTTAE

LH00995:48:23YTGFLT4:1:1129:40633:12504,LH00995:48:23YTGFLT4:2:2430:37187:24723,LH00995:48:23YTGFLT4:3:2380:22333:28786,LH00995:48:23YTGFLT4:4:2407:41094:24709,LH00995:48:23YTGFLT4:5:1467:28927:16133,LH00995:48:23YTGFLT4:6:1369:48933:1827,LH00995:48:23YTGFLT4:6:2156:42672:3760,LH00995:48:23YTGFLT4:1:1151:39444:20673,LH00995:48:23YTGFLT4:1:1151:39452:20659,LH00995:48:23YTGFLT4:2:2460:49872:21360,LH00995:48:23YTGFLT4:3:2132:51732:14017,LH00995:48:23YTGFLT4:4:1213:8014:13877,LH00995:48:23YTGFLT4:4:1348:20740:4811,LH00995:48:23YTGFLT4:4:2125:7488:1532,LH00995:48:23YTGFLT4:5:1449:28182:15545

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

311

122

low

out-of-frame

Adaptor_complexes_medium_subunit_family(63%)|Transcription_factor_IIA__alpha/beta_subunit(93%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

duplicates(1)

ACAGGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCA?AGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACT...GAGCAGGTATTCTTCAGCATCCAATTCAGCAAGTATTTCAACAGCTTGGCCAGCCTTCAGTAATACAAACTAGTGTTCCACAATTGAATCCATGGTCTCTTCAAGCAACTACTGAAAAATCACAGAGAATTGAAACCGTGCTACAGCAACC

QELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:48:23YTGFLT4:5:1322:28158:11635,LH00995:48:23YTGFLT4:1:1392:23603:22551,LH00995:48:23YTGFLT4:6:1276:1760:22607,LH00995:48:23YTGFLT4:6:1276:1769:22621

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000242419.5

ENST00000610583.1

ENST00000306593.1

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

TCGCACTTTGTGGGCGTGGAAGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGCGCCCGCTACGGAC

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

LH00995:48:23YTGFLT4:1:1197:20998:5204,LH00995:48:23YTGFLT4:1:1243:51571:8244,LH00995:48:23YTGFLT4:2:1107:50632:13289,LH00995:48:23YTGFLT4:2:1107:50640:13303,LH00995:48:23YTGFLT4:2:1107:50656:13303,LH00995:48:23YTGFLT4:2:2474:1866:28674,LH00995:48:23YTGFLT4:3:1151:9753:17338,LH00995:48:23YTGFLT4:3:1180:9559:27315,LH00995:48:23YTGFLT4:3:1271:26500:11958,LH00995:48:23YTGFLT4:3:1351:41701:19034,LH00995:48:23YTGFLT4:3:2185:45819:2457,LH00995:48:23YTGFLT4:4:1190:30059:14956,LH00995:48:23YTGFLT4:5:1377:7909:25858,LH00995:48:23YTGFLT4:5:2311:31257:16862,LH00995:48:23YTGFLT4:6:1167:50155:28380,LH00995:48:23YTGFLT4:6:1315:51943:23546,LH00995:48:23YTGFLT4:6:2158:48424:17703,LH00995:48:23YTGFLT4:1:2411:39622:8763,LH00995:48:23YTGFLT4:2:1398:21007:24443,LH00995:48:23YTGFLT4:2:1491:25011:22747,LH00995:48:23YTGFLT4:2:2303:1348:7123,LH00995:48:23YTGFLT4:3:2129:28635:19917,LH00995:48:23YTGFLT4:4:2179:30626:13779,LH00995:48:23YTGFLT4:4:2241:43473:2009,LH00995:48:23YTGFLT4:4:2450:9041:19356,LH00995:48:23YTGFLT4:5:1184:10134:21976,LH00995:48:23YTGFLT4:5:1480:46984:9744,LH00995:48:23YTGFLT4:5:2107:10037:12616,LH00995:48:23YTGFLT4:6:2257:9122:28969,LH00995:48:23YTGFLT4:6:2392:3047:16596

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253873.6

ENST00000610583.1

ENST00000398587.7

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000240764.4

ENST00000610583.1

ENST00000252087.3

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000254122.3

ENST00000610583.1

ENST00000398594.4

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253767.3

ENST00000610583.1

ENST00000398604.3

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253846.2

ENST00000610583.1

ENST00000398610.2

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000261934.2

ENST00000610583.1

ENST00000573521.1

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253305.2

ENST00000610583.1

ENST00000520790.1

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000253159.3

ENST00000610583.1

ENST00000252085.4

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

195

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000253731.3

ENSG00000240184.7

ENST00000610583.1

ENST00000308177.5

downstream

upstream

duplicates(10),low_entropy(1),mismappers(1)

SHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYG

PCDHB14

PCDHB15

+/+

chr5:141223541

chr5:141245484

CDS/splice-site

5'UTR

deletion/read-through

331

137

medium

out-of-frame

|Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)

ENSG00000120327.7

ENSG00000113248.6

ENST00000239449.7

ENST00000231173.6

downstream

upstream

duplicates(6)

AATTACGGCTGAGCTTCAGTTTTTCCACAAGAGATTGCCTAAAGGAACCATGGAGATCAGAGGGGCACTCGATCTGCGAAAAAGG|TTATCAACGCACAGATCGATCACTGCCTCTGTCCCATCGCTCCCTGAAGTAGCTCTGACTCCGGTTCCTTGAAAGGGGCGTGTACAGAAGTAAAGATGGAGCCTGCAGGGGAGCGCTTTCCCGAACAAAGGCAAGTCCTGATTCTCCTTCTTTTACTGGAAGTGACTCTGGCAGGCTGGGAACCCCGTCGCTATTCTGTGATGGAGGAAACAGAGAGAGGTTCTTTTGT

MEIRGALDLRKR|lsthrsitasvpslpevaltpvp*

LH00995:48:23YTGFLT4:1:2139:18021:22579,LH00995:48:23YTGFLT4:2:2295:26742:3158,LH00995:48:23YTGFLT4:4:2455:12836:21780,LH00995:48:23YTGFLT4:1:1198:43529:1603,LH00995:48:23YTGFLT4:1:2217:30909:19398,LH00995:48:23YTGFLT4:1:2347:16921:7081,LH00995:48:23YTGFLT4:2:1467:5579:23420,LH00995:48:23YTGFLT4:3:2396:18054:23195,LH00995:48:23YTGFLT4:5:1409:16500:16385,LH00995:48:23YTGFLT4:5:1409:16517:16385,LH00995:48:23YTGFLT4:5:1409:16525:16400,LH00995:48:23YTGFLT4:5:2463:12722:21612,LH00995:48:23YTGFLT4:6:2215:40059:23139,LH00995:48:23YTGFLT4:6:2230:1146:2401,LH00995:48:23YTGFLT4:2:2179:14405:26853,LH00995:48:23YTGFLT4:4:1482:17148:3915

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

274

244

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(5),mismatches(6)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGG

LH00995:48:23YTGFLT4:2:1481:7423:29361,LH00995:48:23YTGFLT4:3:1448:3751:6577,LH00995:48:23YTGFLT4:4:1314:30925:28926,LH00995:48:23YTGFLT4:4:2370:40172:29445,LH00995:48:23YTGFLT4:5:2133:45147:9562,LH00995:48:23YTGFLT4:1:1136:8491:28716,LH00995:48:23YTGFLT4:1:1276:7059:17044,LH00995:48:23YTGFLT4:1:1281:17536:15489,LH00995:48:23YTGFLT4:1:1339:51158:4923,LH00995:48:23YTGFLT4:1:2134:37502:19636,LH00995:48:23YTGFLT4:1:2437:33182:2878,LH00995:48:23YTGFLT4:2:1103:8208:7151,LH00995:48:23YTGFLT4:2:1222:35269:3971,LH00995:48:23YTGFLT4:2:1343:32947:18894,LH00995:48:23YTGFLT4:2:2104:28239:25283,LH00995:48:23YTGFLT4:3:1146:10101:7796,LH00995:48:23YTGFLT4:3:1146:10109:7810,LH00995:48:23YTGFLT4:3:1360:37243:7698,LH00995:48:23YTGFLT4:3:1360:37259:7698,LH00995:48:23YTGFLT4:3:2129:3791:19034,LH00995:48:23YTGFLT4:3:2472:3937:25199,LH00995:48:23YTGFLT4:4:1150:28741:28422,LH00995:48:23YTGFLT4:5:2224:46118:4013,LH00995:48:23YTGFLT4:5:2377:42146:7053,LH00995:48:23YTGFLT4:6:2177:43618:23280

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

4795

2751

medium

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

duplicates(4)

CGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTC

RPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:3:1260:19186:28941,LH00995:48:23YTGFLT4:3:2145:43319:14242,LH00995:48:23YTGFLT4:3:2372:28595:19566,LH00995:48:23YTGFLT4:4:1169:25480:15797,LH00995:48:23YTGFLT4:4:2414:32826:2009,LH00995:48:23YTGFLT4:5:1258:28563:4125,LH00995:48:23YTGFLT4:6:1471:33554:3859,LH00995:48:23YTGFLT4:6:1481:31936:2513,LH00995:48:23YTGFLT4:6:2345:26265:16624,LH00995:48:23YTGFLT4:1:1422:20586:11691,LH00995:48:23YTGFLT4:1:1422:20594:11705,LH00995:48:23YTGFLT4:1:1422:20602:11691,LH00995:48:23YTGFLT4:2:2233:6331:23770,LH00995:48:23YTGFLT4:2:2392:32826:11089,LH00995:48:23YTGFLT4:3:2302:35059:25437,LH00995:48:23YTGFLT4:3:2372:35213:4097,LH00995:48:23YTGFLT4:4:1224:35803:1336,LH00995:48:23YTGFLT4:4:2393:15659:18151

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

4795

2652

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(6%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000408993.6

downstream

upstream

duplicates(6)

TGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGG

GNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCY

LH00995:48:23YTGFLT4:1:1396:42955:17450,LH00995:48:23YTGFLT4:1:2370:28813:5596,LH00995:48:23YTGFLT4:2:1344:15384:27763,LH00995:48:23YTGFLT4:2:2319:43586:25157,LH00995:48:23YTGFLT4:2:2319:43594:25171,LH00995:48:23YTGFLT4:2:2389:12690:15166,LH00995:48:23YTGFLT4:3:1190:8912:28464,LH00995:48:23YTGFLT4:3:1351:21767:16203,LH00995:48:23YTGFLT4:3:2361:34776:27385,LH00995:48:23YTGFLT4:4:2279:20764:27245,LH00995:48:23YTGFLT4:6:1153:3621:8230,LH00995:48:23YTGFLT4:6:1184:28822:11327,LH00995:48:23YTGFLT4:1:1318:4454:7151,LH00995:48:23YTGFLT4:5:1149:8330:9968,LH00995:48:23YTGFLT4:5:1149:8338:9982

RBM14

RBM4

+/+

chr11:66617057

chr11:66665856

CDS/splice-site

deletion/read-through

4795

852

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(1%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(1)

GGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAACAAAGGGCATACATACATTTTCAAGAACTGCAATTTAATTTTGGAGTCCAGGAAAAGCAGAAGATGCTGAGATGTCATATATGGCG

GNVSAACTSQELRSLFERRGRVIECDVVK|gKITPVTEGYCCCNKGHTYIFKNCNLILESRKSRRC*

LH00995:48:23YTGFLT4:1:1163:10668:20407,LH00995:48:23YTGFLT4:1:1246:13499:18669,LH00995:48:23YTGFLT4:3:1294:12383:29683

RBM14

RBM4

+/+

chr11:66617055

chr11:66639699

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4795

3777

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000409406.1

downstream

upstream

read_through(1)

GTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAA|GGCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGG

SAACTSQELRSLFERRGRVIECDVVk|alvrMVKLFIGNLP

LH00995:48:23YTGFLT4:3:1359:43189:18277

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4795

3777

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(72%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(223),read_through(355)

TCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGC

SRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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RADIL

-/-

chr7:4803583

chr7:4803591

CDS

duplication/ITD

medium

in-frame

DIL_domain(100%),Ras_association_(RalGDS/AF-6)_domain(100%)|PDZ_domain(100%)

ENSG00000157927.17

ENST00000399583.4

upstream

downstream

duplicates(19)

CCAGCGACGGCTTCCAGGTGGACTTGGAAGCCAgCTGCCTGGACGACAGCATCTACCAGCACCTGCTCTACGTCCGCCACTTTCTGTGGGGTCTGCGGAGCAGAGCCAGCCCCGGCAGCCCTGGCAG|CCCTGGCAGGCCTGGCAGTGGGGCCTCCCAGCCAGTGTGCCCCGAG___GGTATGCACCACaTGGTCCTTGACGGGCACCTGGAGGCCCCGAGCTGCCCCCTGGCTCCCAGGGACCCTGGCCCAGCAGCCCGGGAAGTGGCCCCGGAGCGTACTCT

SDGFQVDLEAsCLDDSIYQHLLYVRHFLWGLRSRASPGSPGs|PGRPGSGASQPVCPEGMHHmVLDGHLEAPSCPLAPRDPGPAAREVAPERT

LH00995:48:23YTGFLT4:5:2155:31232:2471,LH00995:48:23YTGFLT4:5:2155:31232:2471,LH00995:48:23YTGFLT4:5:2155:31240:2457,LH00995:48:23YTGFLT4:5:2155:31240:2457,LH00995:48:23YTGFLT4:5:2187:10821:8314,LH00995:48:23YTGFLT4:5:2187:20359:14186,LH00995:48:23YTGFLT4:1:1112:13143:5806,LH00995:48:23YTGFLT4:1:1112:13143:5806,LH00995:48:23YTGFLT4:1:2320:27932:16400,LH00995:48:23YTGFLT4:1:2320:27932:16400,LH00995:48:23YTGFLT4:2:1104:49095:18866,LH00995:48:23YTGFLT4:2:1104:49095:18866,LH00995:48:23YTGFLT4:2:2237:40018:12952,LH00995:48:23YTGFLT4:2:2237:40018:12952,LH00995:48:23YTGFLT4:3:1266:36839:27511,LH00995:48:23YTGFLT4:3:1266:36839:27511,LH00995:48:23YTGFLT4:4:1360:9252:14648,LH00995:48:23YTGFLT4:4:1360:9252:14648,LH00995:48:23YTGFLT4:5:2187:10821:8314,LH00995:48:23YTGFLT4:5:2187:20359:14186,LH00995:48:23YTGFLT4:5:2226:14543:22719,LH00995:48:23YTGFLT4:5:2226:14543:22719,LH00995:48:23YTGFLT4:5:2226:14543:22719,LH00995:48:23YTGFLT4:5:2226:14543:22719,LH00995:48:23YTGFLT4:5:2226:14543:22719,LH00995:48:23YTGFLT4:5:2226:14543:22719,LH00995:48:23YTGFLT4:6:1446:37267:27693,LH00995:48:23YTGFLT4:6:1446:37267:27693,LH00995:48:23YTGFLT4:6:2298:30140:27259,LH00995:48:23YTGFLT4:6:2298:30140:27259

MET

GCC2

+/+

chr7:116724249

chr2:108468980

exon/splice-site

CDS/splice-site

translocation

4150

medium

Sema_domain(79%)|GRIP_domain(100%),Rab_binding_domain(100%)

ENSG00000105976.16

ENSG00000135968.21

ENST00000495962.1

ENST00000309863.11

downstream

upstream

duplicates(3)

TCTCGTGGTGCGCCGTTTcTTAAGCCGGTCtGAAAAGCGCAATATTCGGGTGGGAGTGACCCGATTTTCCAG|GCATTAACTGAACGTCTGGATGCTCTTCTTCTGGAAAAAGCAGAGACTGAGCAACAGTGTCTTTCTCTGAAAAAGGAAAATATAAAAATGAAGCAAGAGGTTGAG___GATTCTGTAACAAAGATGGG

LH00995:48:23YTGFLT4:1:1135:30423:10010,LH00995:48:23YTGFLT4:1:1253:28037:10949,LH00995:48:23YTGFLT4:1:1287:8516:27273,LH00995:48:23YTGFLT4:1:1377:38635:9463,LH00995:48:23YTGFLT4:4:1379:3362:18403,LH00995:48:23YTGFLT4:4:2135:42477:25143,LH00995:48:23YTGFLT4:4:2164:19170:19412,LH00995:48:23YTGFLT4:4:2266:4438:22537,LH00995:48:23YTGFLT4:4:2359:21516:14900,LH00995:48:23YTGFLT4:5:2342:9705:11761,LH00995:48:23YTGFLT4:5:2349:38392:7810,LH00995:48:23YTGFLT4:6:1261:31362:23966,LH00995:48:23YTGFLT4:6:1261:31370:23952

PDE11A

-/-

chr2:177629456

chr2:177629458

CDS

duplication/ITD

medium

in-frame

3'5'-cyclic_nucleotide_phosphodiesterase(100%),GAF_domain(100%)|

ENSG00000128655.18

ENST00000286063.11

upstream

downstream

ACGTGAAACTGAAGCCGATGCTAGATTCAGTAGCTACAAACAGAAGTAAGTGGGAAGAGCTACACCAAAAACGACTGCTGGCCTCAACTGC|ct|CaTCcTCCTCCCCTGCCAGTGTTATGGTAGCCAAGGAAGACAGGAACTAAACCTCCAGGTCAGCTGCAGCTGCAAAATGACT

VKLKPMLDSVATNRSKWEELHQKRLLASTa|sSSSPASVMVAKEDRN*

LH00995:48:23YTGFLT4:2:1247:11145:15685,LH00995:48:23YTGFLT4:2:1485:20796:10318,LH00995:48:23YTGFLT4:3:1357:42332:14830,LH00995:48:23YTGFLT4:3:2370:4907:17773,LH00995:48:23YTGFLT4:4:1215:37187:25059,LH00995:48:23YTGFLT4:4:2326:24477:24793,LH00995:48:23YTGFLT4:1:2313:11574:27806,LH00995:48:23YTGFLT4:1:2444:33845:3578,LH00995:48:23YTGFLT4:3:2249:5304:27427,LH00995:48:23YTGFLT4:6:1278:20780:1266

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000242419.5

ENST00000528330.2

ENST00000306593.1

downstream

upstream

duplicates(11),mismappers(1)

ACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGCGC

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

LH00995:48:23YTGFLT4:1:1491:37211:19833,LH00995:48:23YTGFLT4:1:2257:18094:7880,LH00995:48:23YTGFLT4:2:1162:38303:4713,LH00995:48:23YTGFLT4:2:1176:2157:20407,LH00995:48:23YTGFLT4:3:1225:20958:18978,LH00995:48:23YTGFLT4:3:1482:20869:21514,LH00995:48:23YTGFLT4:3:2357:38586:3578,LH00995:48:23YTGFLT4:4:2488:4147:4377,LH00995:48:23YTGFLT4:5:1302:14138:20113,LH00995:48:23YTGFLT4:5:2395:31006:14774,LH00995:48:23YTGFLT4:6:1132:38230:28828,LH00995:48:23YTGFLT4:6:1458:39387:24499,LH00995:48:23YTGFLT4:6:1459:23239:11355,LH00995:48:23YTGFLT4:6:1459:23248:11369,LH00995:48:23YTGFLT4:6:1459:23256:11383,LH00995:48:23YTGFLT4:3:1203:39541:23336,LH00995:48:23YTGFLT4:3:1203:39557:23336,LH00995:48:23YTGFLT4:4:1198:41846:3424,LH00995:48:23YTGFLT4:5:1183:26063:8427,LH00995:48:23YTGFLT4:5:2274:17585:6521,LH00995:48:23YTGFLT4:5:2274:17593:6535

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253873.6

ENST00000528330.2

ENST00000398587.7

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000240764.4

ENST00000528330.2

ENST00000252087.3

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000254122.3

ENST00000528330.2

ENST00000398594.4

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253767.3

ENST00000528330.2

ENST00000398604.3

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253846.2

ENST00000528330.2

ENST00000398610.2

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000261934.2

ENST00000528330.2

ENST00000573521.1

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253305.2

ENST00000528330.2

ENST00000520790.1

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000253159.3

ENST00000528330.2

ENST00000252085.4

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

168

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081853.15

ENSG00000240184.7

ENST00000528330.2

ENST00000308177.5

downstream

upstream

duplicates(11),mismappers(1)

LIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLS

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000242419.5

ENST00000612927.1

ENST00000306593.1

downstream

upstream

duplicates(8),mismappers(2)

GCTGAAGGCAGCAGGTTGGCAGGTGTGCCTGCCTCGCACTTTGTGGGCGTGGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACCGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACA

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

LH00995:48:23YTGFLT4:1:1405:34420:7123,LH00995:48:23YTGFLT4:1:2108:44201:12434,LH00995:48:23YTGFLT4:1:2160:15740:24148,LH00995:48:23YTGFLT4:1:2160:15748:24134,LH00995:48:23YTGFLT4:2:2460:27883:10514,LH00995:48:23YTGFLT4:3:1476:5263:26068,LH00995:48:23YTGFLT4:3:2226:23798:5652,LH00995:48:23YTGFLT4:4:1313:51967:4363,LH00995:48:23YTGFLT4:4:1494:22180:11677,LH00995:48:23YTGFLT4:5:2403:49629:14382,LH00995:48:23YTGFLT4:5:2473:48424:2457,LH00995:48:23YTGFLT4:6:1421:44589:8230,LH00995:48:23YTGFLT4:1:2397:16929:20911,LH00995:48:23YTGFLT4:3:1336:37178:14284,LH00995:48:23YTGFLT4:4:2317:20837:17899,LH00995:48:23YTGFLT4:4:2348:7537:7810,LH00995:48:23YTGFLT4:6:2375:42672:10514

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253873.6

ENST00000612927.1

ENST00000398587.7

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000240764.4

ENST00000612927.1

ENST00000252087.3

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000254122.3

ENST00000612927.1

ENST00000398594.4

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253767.3

ENST00000612927.1

ENST00000398604.3

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253846.2

ENST00000612927.1

ENST00000398610.2

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHA6

PCDHAC2

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

126

587

medium

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081842.18

ENSG00000243232.6

ENST00000378126.4

ENST00000289269.7

downstream

upstream

duplicates(11),mismatches(3)

TGGTCGTACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCCGGGGAGGGCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAAC

WSYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGV

LH00995:48:23YTGFLT4:1:1481:41515:12742,LH00995:48:23YTGFLT4:4:1274:20667:2415,LH00995:48:23YTGFLT4:5:2450:5741:11789,LH00995:48:23YTGFLT4:6:1291:48262:28268,LH00995:48:23YTGFLT4:1:1238:26289:13107,LH00995:48:23YTGFLT4:1:1254:49985:11495,LH00995:48:23YTGFLT4:1:1254:49993:11481,LH00995:48:23YTGFLT4:1:2206:31451:14900,LH00995:48:23YTGFLT4:2:1355:40665:12981,LH00995:48:23YTGFLT4:2:1480:31499:16750,LH00995:48:23YTGFLT4:2:2232:46652:29403,LH00995:48:23YTGFLT4:2:2442:27381:22341,LH00995:48:23YTGFLT4:3:2137:21565:28072,LH00995:48:23YTGFLT4:4:1190:17237:18417,LH00995:48:23YTGFLT4:4:1253:20141:11817,LH00995:48:23YTGFLT4:4:1484:48375:2401,LH00995:48:23YTGFLT4:6:1141:36992:16848,LH00995:48:23YTGFLT4:6:1170:9980:14144,LH00995:48:23YTGFLT4:6:1342:33117:5372,LH00995:48:23YTGFLT4:3:1396:17002:26334,LH00995:48:23YTGFLT4:3:2184:25763:23209

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000261934.2

ENST00000612927.1

ENST00000573521.1

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHA6

PCDHAC1

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

126

587

medium

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081842.18

ENSG00000248383.5

ENST00000378126.4

ENST00000253807.3

downstream

upstream

duplicates(11),mismatches(3)

WSYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGV

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253305.2

ENST00000612927.1

ENST00000520790.1

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000253159.3

ENST00000612927.1

ENST00000252085.4

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

4723

medium

in-frame

Cadherin-like(100%),Cadherin_cytoplasmic_C-terminal(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000262576.3

ENSG00000240184.7

ENST00000612927.1

ENST00000308177.5

downstream

upstream

duplicates(8),mismappers(2)

AEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHA6

PCDHA13

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

126

587

medium

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000081842.18

ENSG00000239389.8

ENST00000378126.4

ENST00000289272.3

downstream

upstream

duplicates(11),mismatches(3)

WSYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGV

MYLK

-/-

chr3:123698384

chr3:123700176

intron

CDS

duplication

2653

medium

Immunoglobulin_I-set_domain(72%),Unstructured_linker_between_I-set_domains_2_and_3_on_MYLCK(100%)|Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(33%),Protein_kinase_domain(100%)

ENSG00000065534.19

ENST00000360304.8

upstream

downstream

duplicates(3)

GGGGATTATTGGGCTGGGGTGAGACTTCAGAGGAGCAGACGCCACAACCTGTCCTGCCGCCCCTGTGGGGCTCTCCCACTTGGAAAGTCCTTGGTAAAACTGATTGGAAACCCTGACTGGGAACATTTCCCAGGTCACCCTACGGTGATCTCTCCAGGCAGGATGCAGGGTGGCATCCACCATCC|CCAGCCTTCAAGCAGAAGCTGCAAGATGTTCATGTGGCAGAGGGCAAGAAGCTGCTGCTCCAGTGCCAGGTGTCTTCTGACCCCCCAGCCACCATCATCTGGACGCTGAAtGGAAAGACCCTCAAGACCACCAAGTTCATCATCCTCTCCCAGGAAGGTAAATGAGCATGGGGGTTGGGGAAGAAGGGGCCTCTGTACCAGGGCCACTCCTAGCTCATGGAGCGTTGGTCTCGCTGACCCCTGTTAGCAGCCCATAGGTAGGCTGCTAACCTGGTTTAGCAGGTAGGAGGGCCTGCTGGGTAGGAGGGCCGCGTCCCTGTTTCCTG

LH00995:48:23YTGFLT4:5:2322:19704:29333,LH00995:48:23YTGFLT4:6:1482:7456:26446,LH00995:48:23YTGFLT4:6:1482:7456:26474,LH00995:48:23YTGFLT4:6:1482:7464:26460,LH00995:48:23YTGFLT4:1:1319:15958:21864,LH00995:48:23YTGFLT4:1:2245:21403:14760,LH00995:48:23YTGFLT4:4:2144:21702:6731,LH00995:48:23YTGFLT4:4:2144:21702:6759,LH00995:48:23YTGFLT4:5:2458:34290:10542

SDHAP3

AC026412.1

-/-

chr5:1593113

chr5:1599827

exon/splice-site

duplication

838

medium

ENSG00000185986.12

ENSG00000188002.10

ENST00000652578.1

ENST00000507841.5

upstream

downstream

GCCTGTGGGGAGGCCGCCTGTGCCTCGGTACATGGTGCCAATCGGCTCGGGGCAAACTCGCTCTTGGACTTGGTTGTCTTTGGTCAGGCATGTGCCCTGAGCATCGAAGAGTCATGCAGGCCTG|ACTACACTGAAGGCTGGTTACGCTCTTATGTGCtATAGAACCTCAAACACATCGTAACACACCTTTGGAGAATCCTTACAAGAACACCAAGTTAACAGTTATCTCTGACCACACTACCTCAGCAAAAAAC

LH00995:48:23YTGFLT4:1:1210:45867:25073,LH00995:48:23YTGFLT4:3:1294:3217:16974,LH00995:48:23YTGFLT4:3:2245:33716:24401,LH00995:48:23YTGFLT4:5:2175:5061:10444,LH00995:48:23YTGFLT4:1:2484:10813:3732

GYG2

ARSFP1

+/+

-/-

chrX:2843354

chrY:12258031

CDS/splice-site

exon

translocation

393

medium

out-of-frame

Glycosyl_transferase_family_8(19%)|

ENSG00000056998.20

ENSG00000232226.2

ENST00000381163.7

ENST00000398758.2

downstream

CTACTGCCAGGGCGCCCTGGTCCTGGGGCAGTCACTGAGGAGACACAGGCTGACGAGGAAGCTGGTGGTGTTGATCACTCCTCAGGTGTCCAGCCTGCTCAG|GAGCCCCTTGGTCTTCATGTCTTTGGTGTGTGCACTCTTGAACACTTGCCAGGCACACAGGGTGCATGACAACAAG

YCQGALVLGQSLRRHRLTRKLVVLITPQVSSLLr|splvfmslvcallntcqahrvhdn

LH00995:48:23YTGFLT4:1:1232:25254:12882,LH00995:48:23YTGFLT4:1:2336:12439:6072,LH00995:48:23YTGFLT4:2:1360:19025:7754,LH00995:48:23YTGFLT4:2:2114:18321:6899

ZNF528

ZNF610(1782),ZNF880(357)

+/+

./+

chr19:52406643

chr19:52369560

CDS/splice-site

intergenic

duplication

892

medium

out-of-frame

KRAB_box(100%)|

ENSG00000167555.14

ENST00000391788.6

downstream

upstream

duplicates(2)

CCTGGACCCTGCGCAGAGGACTTTATACAGGGACGTGATGTTGGAGAATTATAGGAACCTGGTCTCCCTGG___GAATCTGTCTTCCTGACCTGAGTGTTACCTCCATGTTAGAGCAAAAGAGAGATCCCTGGACTCTGCAGAGTGAAGAGAAAATAGCAAACGATCCAGACGGCAGGGAGTGCATCAAAGGTGTGAACACAG|GCGCAAGGTTTCTCTCTCATGCCCAGGCGGGAGTGCAGCGCACGACCTCGGCTCACTGCAGCCTCCgCCTCATGGGCTCAAGCGATCCTCCCgCtTCAGCATCCGGGTAGCTgGGACCACATGCGAGCGCCCCTACAGCCGATTTAAAATTAATTTTAATAGCAGGAATTTTCCTGGATCTAAT

LDPAQRTLYRDVMLENYRNLVSLGICLPDLSVTSMLEQKRDPWTLQSEEKIANDPDGRECIKGVNT|garflshaqagvqrttsahcslrlmgssdppasasg*

LH00995:48:23YTGFLT4:3:1294:9875:29347,LH00995:48:23YTGFLT4:2:1330:29533:18978,LH00995:48:23YTGFLT4:2:2172:50260:12728,LH00995:48:23YTGFLT4:3:2276:8872:17941,LH00995:48:23YTGFLT4:4:1318:24712:3536,LH00995:48:23YTGFLT4:5:2273:9430:16666

AC092902.4

AC114300.1(129432),AC099517.1(50061)

+/+

./-

chr3:125766818

chr5:30495116

exon/splice-site

intergenic

translocation

1059

medium

ENSG00000284624.1

ENST00000641586.1

downstream

TGCGGCTGTTGCTGGAGAGGGGAAGCGCGCAGCCCGAGGACTGCGAGGACGGGGAGGACGCGCCGCGGCCAGGCAGGAAGAAGACCGGCACCCAGACAGGTGGCGACGGCAGAGGA|GGTGAAGGTACGCTCGAGCATGGTCATTGAGGACAAGTCGACGAGAGATC

LH00995:48:23YTGFLT4:2:1485:11145:9968,LH00995:48:23YTGFLT4:5:1166:11015:20393,LH00995:48:23YTGFLT4:5:2174:2084:7782,LH00995:48:23YTGFLT4:4:2332:32672:19090

ZNF587B

ZNF776

+/+

chr19:57839149

chr19:57750782

CDS/splice-site

intron

duplication

2129

1290

medium

out-of-frame

KRAB_box(98%)|KRAB_box(100%),Zinc_finger__C2H2_type(100%)

ENSG00000269343.9

ENSG00000152443.13

ENST00000651253.2

ENST00000317178.10

downstream

upstream

mismatches(2)

CTCCTTAGTGAGGCTCAGAGATGCCTGTACCGTGATGTGACTCTGGAGAACCTGGCACTTATGTCCTCCCTGG|CAGGGCACTGTGACCTTTGAAGATGTGGCTGTGAACTTTTCCCAGGAGGAATGGAaTCTCCTTAGTGAG___GCTCAGAGATGCCTGTACCGTGATGTGACTCTGGA

LLSEAQRCLYRDVTLENLALMSSL|aghcdl*

LH00995:48:23YTGFLT4:2:1454:18887:14326,LH00995:48:23YTGFLT4:2:1454:18887:14326,LH00995:48:23YTGFLT4:3:1414:8653:12434,LH00995:48:23YTGFLT4:3:1414:8653:12434,LH00995:48:23YTGFLT4:3:2226:30553:9505,LH00995:48:23YTGFLT4:3:2421:44217:5232

AC107391.1(64121),AC105924.1(19679)

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

17337

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(2)

GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGG___GCCAAAGAAGCCCAGGATGACCTGGTGAAGACCAAGGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCCCCACCACCCCCC

LH00995:48:23YTGFLT4:1:2174:23037:14368,LH00995:48:23YTGFLT4:4:1135:27009:7684,LH00995:48:23YTGFLT4:5:1214:3443:18768,LH00995:48:23YTGFLT4:5:1344:24599:15867,LH00995:48:23YTGFLT4:6:1450:46126:1869,LH00995:48:23YTGFLT4:6:2307:5263:6367

UBE2Q2P2

GOLGA6L10

+/+

-/-

chr15:82420075

chr15:82347629

exon

CDS/splice-site

inversion

185

166

medium

|Putative_golgin_subfamily_A_member_2-like_protein_5(100%)

ENSG00000259429.5

ENSG00000278662.5

ENST00000613592.4

ENST00000610657.2

downstream

duplicates(3),mismatches(3),multimappers(2)

GCAGTGCCTACTCGATAGAATCAGTCATCATGCAAATAAAAGCCACCTGAGTCAAAGGCAAAGCCAGAGTGCAGCTTGGAGCAAAGAAG|TTAAAAGCATATTGGCAGAGGAAGAGCCCTGGCATTCCAGCAGGAGCTAACAGGAAAAAGAAAGTCAATGGCAGTAGCCCTGACACAGCCACTTCTGGTGGTTACCACTCACCTGGGGAT___CAACAGGTATCTACGGGGAGGGCCGTGCATCCTCTACTACCCTGCAGGATCTGGAG___AGCCAGTACCAAGAACTAGCAGTaGCCCTGGATTCAAGCTCCGCAATAATCAG

LH00995:48:23YTGFLT4:1:1244:27527:27862,LH00995:48:23YTGFLT4:2:2367:14486:2836,LH00995:48:23YTGFLT4:2:2471:23377:9015,LH00995:48:23YTGFLT4:3:1436:11638:13961,LH00995:48:23YTGFLT4:4:1148:45835:6745,LH00995:48:23YTGFLT4:4:1344:24825:4825,LH00995:48:23YTGFLT4:4:1344:24833:4839,LH00995:48:23YTGFLT4:4:2302:22018:23728,LH00995:48:23YTGFLT4:5:1110:7132:25297,LH00995:48:23YTGFLT4:5:1393:3872:29235,LH00995:48:23YTGFLT4:5:1493:36782:25395,LH00995:48:23YTGFLT4:5:2154:17439:24709

AC009021.1(77320),AC130466.1(115486)

AC005632.2

./+

-/-

chr16:22690803

chr16:21550373

intergenic

exon

inversion

medium

ENSG00000257639.1

ENST00000550637.1

downstream

duplicates(3)

CTGCGATCTACTAGCTGTGTGACCTTGG___ATGCCAGACACTGTCCTGAGCACTATCCATGTGTCATCACTTAATCTTCACGGCAGCTTATGAG|GAATTAGTGGCGGGCCCTTGGAAAACCACTACAGACTGAAGCAATTTCACTTCCACTGGGGAGCAGTGAATGAGGGGGGCTCAGAGCACACAGTGGACGGCCACGTGTACCCCGCAGAG

LH00995:48:23YTGFLT4:1:2142:26823:25213,LH00995:48:23YTGFLT4:2:1110:14850:4279,LH00995:48:23YTGFLT4:2:1218:17746:5428,LH00995:48:23YTGFLT4:2:1218:17762:5428,LH00995:48:23YTGFLT4:2:1218:17762:5456,LH00995:48:23YTGFLT4:2:1218:17771:5442

ZNF587

VN1R66P(16622),RBM22P12(15003)

+/+

./-

chr19:57856233

chr16:31665844

CDS/splice-site

intergenic

translocation

6238

medium

out-of-frame

KRAB_box(98%)|

ENSG00000198466.12

ENST00000339656.8

downstream

mismatches(1)

GTGGCTGTGAACTTTTCCCAGGAGGAGTGGTGTCTTCTTAGTGAGGCTCAGAGGTGCTTGTACCGTGATGTGATGCTAGAGAACCTGGCTCTCATATCCTCGCTGG|ATTGTCCTCTGCCATCTGTGCCAGTTTCcTGATTTGcCC

VAVNFSQEEWCLLSEAQRCLYRDVMLENLALISSL|dcplpsvpvs*

LH00995:48:23YTGFLT4:1:2268:39856:13989,LH00995:48:23YTGFLT4:3:2117:11331:14130,LH00995:48:23YTGFLT4:3:2143:19397:9519,LH00995:48:23YTGFLT4:3:2389:8726:21248

DUOX1

+/-

chr15:45140135

chr15:45140990

intron

CDS

duplication

medium

ENSG00000137857.17

upstream

downstream

duplicates(4)

GGCACACAACTGTAGAAACACTGCTGTGTCAAGATGGTAAGGTATCCCAATCTGGTCTCTTGGCTAGCAGCTGAACAG|AGGTCCAGGGTCCCGGTGGCTCTCCAGGAGTCCCCCAGGGAGCAGCTCTAGCCAGGATAAGTCCTGGTTGTACAGGGCAGCTGTGGCCTCCAGTACCTGGAACCAAGAAGGGGCAGAAGTAAGAG

LH00995:48:23YTGFLT4:4:1437:43432:11467,LH00995:48:23YTGFLT4:1:1454:17172:22397,LH00995:48:23YTGFLT4:1:2188:9422:20827,LH00995:48:23YTGFLT4:1:2345:36458:17577,LH00995:48:23YTGFLT4:3:2490:41644:28744,LH00995:48:23YTGFLT4:5:2153:6825:27932,LH00995:48:23YTGFLT4:6:2206:15999:28128

PSPC1

ZMYM5

-/-

chr13:19772242

chr13:19835689

CDS/splice-site

duplication

2939

293

medium

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)|MYM-type_Zinc_finger_with_FCS_sequence_motif(56%)

ENSG00000121390.19

ENSG00000132950.19

ENST00000471658.5

ENST00000337963.9

upstream

downstream

duplicates(3)

GCTGTTGTGGTTGTGGATGATCGCGGTAGAGCTACAGGAAAAGGTTTTGTAGAGTTTGCAGCAAAACCTCCTGCACGAAAGGCTCTGGAAAGATGTGGTGATGGGGCATTCTTGCTAACAAC|ATTCGCCATGAAGTCAGCGTAAATAATGTAACACATAAACTGTGCAGTAACCATTGCTTTAATAAGTACAGATTGGCCAATGGTCTAATAATGAACTGCTGTGAACACTGTGGAGAGTACATGCCTAGTAAGAGTACTGGAAACAACA

AVVVVDDRGRATGKGFVEFAAKPPARKALERCGDGAFLLTt|famksa*

LH00995:48:23YTGFLT4:6:1354:25836:11705,LH00995:48:23YTGFLT4:6:1354:25844:11691,LH00995:48:23YTGFLT4:3:1245:35407:8917,LH00995:48:23YTGFLT4:3:1245:35415:8931,LH00995:48:23YTGFLT4:3:1245:35431:8931

PSPC1

ZMYM5

-/-

chr13:19741565

chr13:19835689

CDS/splice-site

duplication

1781

293

low

out-of-frame

NOPS_(NUC059)_domain(100%),RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)|MYM-type_Zinc_finger_with_FCS_sequence_motif(56%)

ENSG00000121390.19

ENSG00000132950.19

ENST00000471658.5

ENST00000337963.9

upstream

downstream

duplicates(1)

CAcGAAGAACTCAGACGCTTGGAAGAACTCAGAAACCAAGAGTTGCAAAAACGGAAGCAAATACAACTAAG|ATTCGCCATGAAGTCAGCGTAAATAATGTAACACATAAACTGTGCAGTAACCATTGCTTTAATAAGTACAGATTGGCCAA...TCTAATAATGAACgGCTGTGAACACTGTGGAGAGTACATGCCTAGTAAGAGTACTGGAAACAACATCCTGGTGATTGGAGGTCAGCAGAAGAGATTTTGCTGCCAAAGTTGTATTAACGAATATAAACAG___ATGATGGAAACAAAATCAAAA

hEELRRLEELRNQELQKRKQIQLr|famksa*

LH00995:48:23YTGFLT4:5:2266:38845:6969,LH00995:48:23YTGFLT4:5:2266:38853:6955

MUC5B

FP671120.4

+/+

chr11:1252456

chr21:8214652

CDS

intron

translocation

54437

2588

low

out-of-frame

C8_domain(75%),Mucin-2_protein_WxxW_repeating_region(100%),Trypsin_Inhibitor_like_cysteine_rich_domain(100%),von_Willebrand_factor_type_D_domain(72%)|

ENSG00000117983.17

ENSG00000278996.1

ENST00000529681.5

downstream

upstream

duplicates(100),low_entropy(1),mismatches(48)

GTTTTTCTCGCCCG___GGGAAGTCATCTACAATAAGACCGACCGAGCCGGCTGCCATTTCTACGCAGTGTGCAATCAGCACTGTGACATTGACCGCTTCCAGGGCGCCTGTCCCACCTCCCCACCGCCAG|CGTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

FFSPGEVIYNKTDRAGCHFYAVCNQHCDIDRFQGACPTSPPP|asvrpsvlll

LH00995:48:23YTGFLT4:1:1116:48869:12644,LH00995:48:23YTGFLT4:1:1140:10255:15853,LH00995:48:23YTGFLT4:1:1149:32357:17647,LH00995:48:23YTGFLT4:1:1160:34161:20183,LH00995:48:23YTGFLT4:1:1206:40633:7460,LH00995:48:23YTGFLT4:1:1228:35698:8693,LH00995:48:23YTGFLT4:1:1255:18474:21150,LH00995:48:23YTGFLT4:1:1257:52007:17913,LH00995:48:23YTGFLT4:1:1325:43117:12546,LH00995:48:23YTGFLT4:1:1329:25852:13751,LH00995:48:23YTGFLT4:1:1364:44532:22313,LH00995:48:23YTGFLT4:1:1380:35140:9183,LH00995:48:23YTGFLT4:1:1390:29808:5414,LH00995:48:23YTGFLT4:1:1396:18936:28198,LH00995:48:23YTGFLT4:1:1408:50697:6423,LH00995:48:23YTGFLT4:1:1421:20173:17563,LH00995:48:23YTGFLT4:1:1458:27430:18866,LH00995:48:23YTGFLT4:1:1462:46110:28520,LH00995:48:23YTGFLT4:1:2121:12698:28772,LH00995:48:23YTGFLT4:1:2165:24623:23868,LH00995:48:23YTGFLT4:1:2174:7828:21934,LH00995:48:23YTGFLT4:1:2214:51045:21598,LH00995:48:23YTGFLT4:1:2263:46741:2878,LH00995:48:23YTGFLT4:1:2267:36580:24232,LH00995:48:23YTGFLT4:1:2281:15060:15825,LH00995:48:23YTGFLT4:1:2311:7844:6493,LH00995:48:23YTGFLT4:1:2312:26475:8216,LH00995:48:23YTGFLT4:1:2313:23005:15236,LH00995:48:23YTGFLT4:1:2401:9697:24471,LH00995:48:23YTGFLT4:1:2415:44985:3929,LH00995:48:23YTGFLT4:1:2422:20659:10220,LH00995:48:23YTGFLT4:1:2434:43610:12224,LH00995:48:23YTGFLT4:1:2436:49055:26558,LH00995:48:23YTGFLT4:1:2468:26208:6577,LH00995:48:23YTGFLT4:1:2477:17657:22677,LH00995:48:23YTGFLT4:1:2495:37785:26320,LH00995:48:23YTGFLT4:2:1104:48561:10654,LH00995:48:23YTGFLT4:2:1131:40827:4797,LH00995:48:23YTGFLT4:2:1163:17868:21668,LH00995:48:23YTGFLT4:2:1176:2513:14718,LH00995:48:23YTGFLT4:2:1196:6072:18894,LH00995:48:23YTGFLT4:2:1250:35350:10164,LH00995:48:23YTGFLT4:2:1259:11468:25437,LH00995:48:23YTGFLT4:2:1276:45074:18347,LH00995:48:23YTGFLT4:2:1302:43036:26811,LH00995:48:23YTGFLT4:2:1302:43052:26811,LH00995:48:23YTGFLT4:2:1304:44807:17100,LH00995:48:23YTGFLT4:2:1313:12455:12546,LH00995:48:23YTGFLT4:2:1313:12472:12546,LH00995:48:23YTGFLT4:2:1336:27422:16161,LH00995:48:23YTGFLT4:2:1352:1744:29725,LH00995:48:23YTGFLT4:2:1354:7011:3704,LH00995:48:23YTGFLT4:2:1355:6234:6339,LH00995:48:23YTGFLT4:2:1358:5951:21934,LH00995:48:23YTGFLT4:2:1463:41879:2471,LH00995:48:23YTGFLT4:2:1490:37413:10626,LH00995:48:23YTGFLT4:2:1490:37429:10626,LH00995:48:23YTGFLT4:2:2105:14567:19650,LH00995:48:23YTGFLT4:2:2126:33578:19286,LH00995:48:23YTGFLT4:2:2133:46304:12995,LH00995:48:23YTGFLT4:2:2141:20877:23798,LH00995:48:23YTGFLT4:2:2186:12989:23195,LH00995:48:23YTGFLT4:2:2212:2472:15208,LH00995:48:23YTGFLT4:2:2212:38230:25690,LH00995:48:23YTGFLT4:2:2228:46951:23728,LH00995:48:23YTGFLT4:2:2262:19995:12070,LH00995:48:23YTGFLT4:2:2267:37834:7263,LH00995:48:23YTGFLT4:2:2272:34234:25970,LH00995:48:23YTGFLT4:2:2297:1097:28716,LH00995:48:23YTGFLT4:2:2321:13620:2709,LH00995:48:23YTGFLT4:2:2336:42372:6717,LH00995:48:23YTGFLT4:2:2336:42380:6731,LH00995:48:23YTGFLT4:2:2358:39039:26783,LH00995:48:23YTGFLT4:2:2368:18798:20365,LH00995:48:23YTGFLT4:2:2388:30666:1575,LH00995:48:23YTGFLT4:2:2494:47145:26362,LH00995:48:23YTGFLT4:3:1124:23506:1476,LH00995:48:23YTGFLT4:3:1124:46571:14886,LH00995:48:23YTGFLT4:3:1132:34371:6759,LH00995:48:23YTGFLT4:3:1132:34379:6773,LH00995:48:23YTGFLT4:3:1192:21994:15531,LH00995:48:23YTGFLT4:3:1201:21864:15783,LH00995:48:23YTGFLT4:3:1204:16403:19552,LH00995:48:23YTGFLT4:3:1210:13030:20715,LH00995:48:23YTGFLT4:3:1218:50090:21234,LH00995:48:23YTGFLT4:3:1234:28822:12168,LH00995:48:23YTGFLT4:3:1237:26937:14844,LH00995:48:23YTGFLT4:3:1238:8305:22369,LH00995:48:23YTGFLT4:3:1257:27810:20925,LH00995:48:23YTGFLT4:3:1267:3443:20421,LH00995:48:23YTGFLT4:3:1278:36127:28016,LH00995:48:23YTGFLT4:3:1283:15586:22761,LH00995:48:23YTGFLT4:3:1318:18822:25059,LH00995:48:23YTGFLT4:3:1384:23749:29053,LH00995:48:23YTGFLT4:3:1387:46862:27189,LH00995:48:23YTGFLT4:3:1388:13798:25269,LH00995:48:23YTGFLT4:3:1388:13806:25283,LH00995:48:23YTGFLT4:3:1393:23506:10388,LH00995:48:23YTGFLT4:3:1402:51951:24064,LH00995:48:23YTGFLT4:3:1454:38076:2527,LH00995:48:23YTGFLT4:3:1464:38902:2415,LH00995:48:23YTGFLT4:3:2103:3128:9281,LH00995:48:23YTGFLT4:3:2119:31443:13933,LH00995:48:23YTGFLT4:3:2124:17131:15685,LH00995:48:23YTGFLT4:3:2126:12132:29585,LH00995:48:23YTGFLT4:3:2172:40228:2359,LH00995:48:23YTGFLT4:3:2194:26233:28870,LH00995:48:23YTGFLT4:3:2201:26589:28786,LH00995:48:23YTGFLT4:3:2204:42178:21682,LH00995:48:23YTGFLT4:3:2232:20958:20883,LH00995:48:23YTGFLT4:3:2250:51854:13723,LH00995:48:23YTGFLT4:3:2255:1202:4797,LH00995:48:23YTGFLT4:3:2260:17180:15881,LH00995:48:23YTGFLT4:3:2291:7108:6507,LH00995:48:23YTGFLT4:3:2296:26977:24863,LH00995:48:23YTGFLT4:3:2317:7229:4083,LH00995:48:23YTGFLT4:3:2332:29088:21514,LH00995:48:23YTGFLT4:3:2339:40503:17072,LH00995:48:23YTGFLT4:3:2343:39978:25437,LH00995:48:23YTGFLT4:3:2374:1057:28310,LH00995:48:23YTGFLT4:3:2390:23434:23686,LH00995:48:23YTGFLT4:3:2402:8872:28926,LH00995:48:23YTGFLT4:3:2461:14260:5638,LH00995:48:23YTGFLT4:3:2463:47218:20491,LH00995:48:23YTGFLT4:3:2478:23450:21948,LH00995:48:23YTGFLT4:3:2478:23466:21948,LH00995:48:23YTGFLT4:3:2497:13442:18908,LH00995:48:23YTGFLT4:4:1118:6153:3929,LH00995:48:23YTGFLT4:4:1153:16266:8693,LH00995:48:23YTGFLT4:4:1157:47687:22313,LH00995:48:23YTGFLT4:4:1160:32316:19454,LH00995:48:23YTGFLT4:4:1180:49524:28969,LH00995:48:23YTGFLT4:4:1187:4924:6395,LH00995:48:23YTGFLT4:4:1339:9470:13625,LH00995:48:23YTGFLT4:4:1391:24024:26811,LH00995:48:23YTGFLT4:4:1416:40164:5190,LH00995:48:23YTGFLT4:4:1452:7885:24807,LH00995:48:23YTGFLT4:4:1477:37534:23532,LH00995:48:23YTGFLT4:4:2106:19089:5708,LH00995:48:23YTGFLT4:4:2134:37575:28002,LH00995:48:23YTGFLT4:4:2166:7674:2864,LH00995:48:23YTGFLT4:4:2212:48869:12168,LH00995:48:23YTGFLT4:4:2224:46013:5932,LH00995:48:23YTGFLT4:4:2246:45317:4111,LH00995:48:23YTGFLT4:4:2282:21136:15867,LH00995:48:23YTGFLT4:4:2291:4689:21710,LH00995:48:23YTGFLT4:4:2296:41385:12070,LH00995:48:23YTGFLT4:4:2298:47793:10753,LH00995:48:23YTGFLT4:4:2302:16363:4601,LH00995:48:23YTGFLT4:4:2308:30504:21528,LH00995:48:23YTGFLT4:4:2335:33441:20757,LH00995:48:23YTGFLT4:4:2342:34970:16091,LH00995:48:23YTGFLT4:4:2348:19089:7053,LH00995:48:23YTGFLT4:4:2352:19696:26965,LH00995:48:23YTGFLT4:4:2358:26524:11803,LH00995:48:23YTGFLT4:4:2361:14810:14522,LH00995:48:23YTGFLT4:4:2374:42785:13177,LH00995:48:23YTGFLT4:4:2384:25780:24078,LH00995:48:23YTGFLT4:4:2391:34517:18810,LH00995:48:23YTGFLT4:4:2425:12132:23083,LH00995:48:23YTGFLT4:4:2437:4446:14144,LH00995:48:23YTGFLT4:4:2439:40196:12028,LH00995:48:23YTGFLT4:4:2458:10376:17577,LH00995:48:23YTGFLT4:4:2480:20149:18333,LH00995:48:23YTGFLT4:4:2488:18151:5680,LH00995:48:23YTGFLT4:4:2489:4916:11621,LH00995:48:23YTGFLT4:4:2493:40285:1757,LH00995:48:23YTGFLT4:5:1105:27535:25886,LH00995:48:23YTGFLT4:5:1130:38837:29151,LH00995:48:23YTGFLT4:5:1133:26799:2135,LH00995:48:23YTGFLT4:5:1133:26807:2121,LH00995:48:23YTGFLT4:5:1144:9761:13121,LH00995:48:23YTGFLT4:5:1150:1591:17885,LH00995:48:23YTGFLT4:5:1161:29380:2429,LH00995:48:23YTGFLT4:5:1185:45471:8441,LH00995:48:23YTGFLT4:5:1207:34574:29697,LH00995:48:23YTGFLT4:5:1217:49589:15993,LH00995:48:23YTGFLT4:5:1263:12933:26040,LH00995:48:23YTGFLT4:5:1264:47485:7306,LH00995:48:23YTGFLT4:5:1264:47493:7292,LH00995:48:23YTGFLT4:5:1285:16962:23910,LH00995:48:23YTGFLT4:5:1285:16970:23924,LH00995:48:23YTGFLT4:5:1285:42728:22467,LH00995:48:23YTGFLT4:5:1286:24340:10711,LH00995:48:23YTGFLT4:5:1389:51417:1196,LH00995:48:23YTGFLT4:5:1439:35593:2794,LH00995:48:23YTGFLT4:5:2141:22091:14073,LH00995:48:23YTGFLT4:5:2149:15554:6171,LH00995:48:23YTGFLT4:5:2196:27713:21654,LH00995:48:23YTGFLT4:5:2213:36863:12644,LH00995:48:23YTGFLT4:5:2246:22309:24120,LH00995:48:23YTGFLT4:5:2247:48011:11299,LH00995:48:23YTGFLT4:5:2272:16945:23434,LH00995:48:23YTGFLT4:5:2334:48893:6885,LH00995:48:23YTGFLT4:5:2351:42413:16680,LH00995:48:23YTGFLT4:5:2382:21379:27946,LH00995:48:23YTGFLT4:5:2431:27980:5218,LH00995:48:23YTGFLT4:5:2455:5474:16960,LH00995:48:23YTGFLT4:5:2455:5490:16960,LH00995:48:23YTGFLT4:5:2475:33489:20225,LH00995:48:23YTGFLT4:5:2489:40924:14942,LH00995:48:23YTGFLT4:5:2496:33158:18361,LH00995:48:23YTGFLT4:6:1103:24671:12042,LH00995:48:23YTGFLT4:6:1134:40795:15475,LH00995:48:23YTGFLT4:6:1142:37276:3746,LH00995:48:23YTGFLT4:6:1223:38376:8398,LH00995:48:23YTGFLT4:6:1238:27673:15166,LH00995:48:23YTGFLT4:6:1252:16662:16470,LH00995:48:23YTGFLT4:6:1307:2610:25423,LH00995:48:23YTGFLT4:6:1325:17309:21430,LH00995:48:23YTGFLT4:6:1331:22956:10809,LH00995:48:23YTGFLT4:6:1374:26564:7474,LH00995:48:23YTGFLT4:6:1401:44904:28086,LH00995:48:23YTGFLT4:6:1412:31402:25690,LH00995:48:23YTGFLT4:6:1421:47712:11593,LH00995:48:23YTGFLT4:6:1426:39533:14410,LH00995:48:23YTGFLT4:6:1429:7682:28548,LH00995:48:23YTGFLT4:6:2120:48958:24120,LH00995:48:23YTGFLT4:6:2143:49330:19468,LH00995:48:23YTGFLT4:6:2197:33198:21486,LH00995:48:23YTGFLT4:6:2197:6566:18936,LH00995:48:23YTGFLT4:6:2206:6582:25185,LH00995:48:23YTGFLT4:6:2227:26670:26965,LH00995:48:23YTGFLT4:6:2243:29558:2962,LH00995:48:23YTGFLT4:6:2255:8152:6016,LH00995:48:23YTGFLT4:6:2283:40423:25620,LH00995:48:23YTGFLT4:6:2314:40301:25550,LH00995:48:23YTGFLT4:6:2323:19599:4013,LH00995:48:23YTGFLT4:6:2352:43497:16932,LH00995:48:23YTGFLT4:6:2355:20424:7207,LH00995:48:23YTGFLT4:2:1418:51757:6997

DTX2

+/+

chr7:76492253

chr7:76463545

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

6161

183

low

out-of-frame

WWE_domain(100%)|Deltex_C-terminal_domain(100%),WWE_domain(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)

ENSG00000091073.19

ENST00000324432.9

downstream

upstream

duplicates(9),mismatches(6)

CGCAGCACCTGCCCCCAGGATCCTCCACCTCCGGTGCAGTCAG___TGCCTCCCTCCCCAGCGGTCCCTCAAGCAGCCCAGGGAG?GTCCCTGCCACTGTGCCCATGCAGATGCCAAAGCCCAGCAGAGTCCAGCAGGCGCTCGCAG|GTGCCTTGGAATTTGTGTCGCTGAGTCAGCAAGCCTTTCAGATTTGCCCGGTTTTTGTTGTTTGTGGTTTGTATCAAGATGGGAACTCAAACAAGTCA

QHLPPGSSTSGAVSASLPSGPSSSPG?VPATVPMQMPKPSRVQQALA|galefvslsqqafqicpvfvvcglyqdgnsnk

LH00995:48:23YTGFLT4:1:1288:9664:10430,LH00995:48:23YTGFLT4:2:1306:25124:18011,LH00995:48:23YTGFLT4:2:1306:25141:18011,LH00995:48:23YTGFLT4:2:1306:25149:17997,LH00995:48:23YTGFLT4:2:2378:3403:3032,LH00995:48:23YTGFLT4:2:2480:2788:21360,LH00995:48:23YTGFLT4:3:1322:24332:23223,LH00995:48:23YTGFLT4:3:1355:45544:17815,LH00995:48:23YTGFLT4:4:1481:27818:9197,LH00995:48:23YTGFLT4:4:2135:21783:23742,LH00995:48:23YTGFLT4:4:2431:51676:4587,LH00995:48:23YTGFLT4:4:2450:15449:22971,LH00995:48:23YTGFLT4:6:1109:15012:22859,LH00995:48:23YTGFLT4:6:1214:40584:12476,LH00995:48:23YTGFLT4:6:2139:26985:28100,LH00995:48:23YTGFLT4:6:2277:25561:6549,LH00995:48:23YTGFLT4:1:1140:16468:23532,LH00995:48:23YTGFLT4:1:1158:3985:25115,LH00995:48:23YTGFLT4:1:1233:18871:17520,LH00995:48:23YTGFLT4:1:1255:7877:20645,LH00995:48:23YTGFLT4:1:1318:20181:21864,LH00995:48:23YTGFLT4:1:1401:48003:10332,LH00995:48:23YTGFLT4:1:1409:30520:11271,LH00995:48:23YTGFLT4:1:1488:11566:22887,LH00995:48:23YTGFLT4:1:2111:47348:19370,LH00995:48:23YTGFLT4:1:2167:26945:4013,LH00995:48:23YTGFLT4:1:2339:9705:2822,LH00995:48:23YTGFLT4:1:2398:38894:8174,LH00995:48:23YTGFLT4:2:1367:43036:15937,LH00995:48:23YTGFLT4:2:1390:8419:8469,LH00995:48:23YTGFLT4:2:1480:45430:24485,LH00995:48:23YTGFLT4:2:2391:42194:21570,LH00995:48:23YTGFLT4:3:1252:9179:7544,LH00995:48:23YTGFLT4:3:1397:11113:5820,LH00995:48:23YTGFLT4:3:1437:2044:10767,LH00995:48:23YTGFLT4:3:1463:24364:25634,LH00995:48:23YTGFLT4:3:1493:48432:13457,LH00995:48:23YTGFLT4:3:2286:32616:19188,LH00995:48:23YTGFLT4:4:1497:26961:1883,LH00995:48:23YTGFLT4:4:2358:1882:9646,LH00995:48:23YTGFLT4:4:2468:2125:18165,LH00995:48:23YTGFLT4:5:1189:50988:6591,LH00995:48:23YTGFLT4:5:1355:24081:17633,LH00995:48:23YTGFLT4:5:1452:33142:27890,LH00995:48:23YTGFLT4:5:2204:41215:24499,LH00995:48:23YTGFLT4:5:2315:39573:16385,LH00995:48:23YTGFLT4:5:2488:13483:28786,LH00995:48:23YTGFLT4:5:2491:8831:10640,LH00995:48:23YTGFLT4:6:1131:30229:24218,LH00995:48:23YTGFLT4:6:1164:24162:28814,LH00995:48:23YTGFLT4:6:1303:24283:12966,LH00995:48:23YTGFLT4:6:1376:24590:22551

CPEB2

+/+

chr4:15004134

chr4:15004132

CDS

duplication/ITD

493

261

low

in-frame

|Cytoplasmic_polyadenylation_element-binding_protein_ZZ_domain(100%),RNA_recognition_motif(100%)

ENSG00000137449.17

ENST00000538197.7

downstream

upstream

duplicates(13)

CGGCTCGCTCAGCGCCATGCCGCCGCCCAGCCCCGACTCAGAGAACGGtTTCTACCCCGGGCTGCCGTCGTCCATGAACCCGGCCTTCTTCCCTAGCTTCTCGCCCGTGTCGCCGCACGGCTGCACTGGGCTCAGCGTTCCGACGAGCGGCGGCGGCGGCGGCGGC|GGCTTCGGCGGCCCCTTCTCGGCTACCGCTGTGCCCCCTCCGCCGCCGCCCGCCATGAATATACC

GSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGG|GFGGPFSATAVPPPPPPAMNI

LH00995:48:23YTGFLT4:1:1172:40164:29011,LH00995:48:23YTGFLT4:1:1184:50252:11677,LH00995:48:23YTGFLT4:1:1307:17722:28030,LH00995:48:23YTGFLT4:1:1307:24129:19342,LH00995:48:23YTGFLT4:1:1439:2578:8805,LH00995:48:23YTGFLT4:1:2338:21905:3606,LH00995:48:23YTGFLT4:1:2359:9883:28632,LH00995:48:23YTGFLT4:2:1355:47704:12112,LH00995:48:23YTGFLT4:2:1415:7367:9954,LH00995:48:23YTGFLT4:2:1485:22390:21626,LH00995:48:23YTGFLT4:2:2371:21605:7544,LH00995:48:23YTGFLT4:2:2416:5660:22299,LH00995:48:23YTGFLT4:2:2435:10328:6563,LH00995:48:23YTGFLT4:3:1107:32470:10725,LH00995:48:23YTGFLT4:3:1229:44306:22789,LH00995:48:23YTGFLT4:3:1419:18984:21556,LH00995:48:23YTGFLT4:3:1419:19000:21556,LH00995:48:23YTGFLT4:3:1445:14996:23448,LH00995:48:23YTGFLT4:3:1497:23191:4237,LH00995:48:23YTGFLT4:3:2191:32778:21374,LH00995:48:23YTGFLT4:3:2191:32794:21374,LH00995:48:23YTGFLT4:3:2191:32794:21402,LH00995:48:23YTGFLT4:3:2229:43335:18754,LH00995:48:23YTGFLT4:3:2418:21168:3564,LH00995:48:23YTGFLT4:3:2474:42647:11117,LH00995:48:23YTGFLT4:3:2483:15141:25017,LH00995:48:23YTGFLT4:4:1314:17908:27876,LH00995:48:23YTGFLT4:4:1320:36183:17380,LH00995:48:23YTGFLT4:4:1330:2707:3901,LH00995:48:23YTGFLT4:4:1408:44112:24162,LH00995:48:23YTGFLT4:4:1437:43149:17983,LH00995:48:23YTGFLT4:4:2211:27576:27021,LH00995:48:23YTGFLT4:4:2238:20295:24190,LH00995:48:23YTGFLT4:4:2429:19219:14116,LH00995:48:23YTGFLT4:4:2441:37170:9029,LH00995:48:23YTGFLT4:5:1151:29962:5344,LH00995:48:23YTGFLT4:5:1219:47825:4335,LH00995:48:23YTGFLT4:5:1233:30342:12728,LH00995:48:23YTGFLT4:5:1336:30084:23714,LH00995:48:23YTGFLT4:5:1480:34193:22901,LH00995:48:23YTGFLT4:5:2193:33926:25157,LH00995:48:23YTGFLT4:5:2272:38174:10346,LH00995:48:23YTGFLT4:5:2272:38190:10346,LH00995:48:23YTGFLT4:5:2272:6428:21248,LH00995:48:23YTGFLT4:5:2304:28927:18740,LH00995:48:23YTGFLT4:5:2321:3387:8048,LH00995:48:23YTGFLT4:6:1204:47776:9099,LH00995:48:23YTGFLT4:6:1446:28870:21556,LH00995:48:23YTGFLT4:6:1461:15570:6591

RUNDC1

+/+

chr17:42981074

chr17:42981069

CDS/splice-site

CDS

duplication/ITD

423

low

in-frame

|RUN_domain(100%)

ENSG00000198863.7

ENST00000361677.5

downstream

upstream

duplicates(11)

GGTTACGAAGGGCCCGGCGACCCCGCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCAcGGTTGCGGGGCGAGGACCAG|GgCttG___AGTGAGCAGGAAAAGCAAGAGCGTCTGGAAACCCAAAGGGAGAAGCAGAAAGAACTGATACTGCAGCTCAAGACCCAGCTAGATGACCTGGAAACGTTTGCCTATCAAGAGGGC

GYEGPGDPASDEGDGLPGDRPrLRGEDQ|glSEQEKQERLETQREKQKELILQLKTQLDDLETFAYQE

LH00995:48:23YTGFLT4:1:1276:50988:18922,LH00995:48:23YTGFLT4:1:1288:1744:2766,LH00995:48:23YTGFLT4:1:1288:1752:2752,LH00995:48:23YTGFLT4:1:2183:22374:20113,LH00995:48:23YTGFLT4:1:2192:11533:17114,LH00995:48:23YTGFLT4:1:2485:43756:14438,LH00995:48:23YTGFLT4:2:1174:16031:21990,LH00995:48:23YTGFLT4:2:1309:51069:9449,LH00995:48:23YTGFLT4:2:1309:51085:9449,LH00995:48:23YTGFLT4:2:1313:37219:26152,LH00995:48:23YTGFLT4:2:1365:12989:25129,LH00995:48:23YTGFLT4:2:1469:5636:26965,LH00995:48:23YTGFLT4:2:2458:19267:20813,LH00995:48:23YTGFLT4:2:2471:44120:12546,LH00995:48:23YTGFLT4:2:2471:44387:11103,LH00995:48:23YTGFLT4:3:1176:33004:5148,LH00995:48:23YTGFLT4:3:1194:43675:24246,LH00995:48:23YTGFLT4:3:2112:3217:14732,LH00995:48:23YTGFLT4:3:2160:41474:22313,LH00995:48:23YTGFLT4:3:2204:28110:24471,LH00995:48:23YTGFLT4:3:2252:28943:8062,LH00995:48:23YTGFLT4:3:2252:28959:8062,LH00995:48:23YTGFLT4:3:2293:20586:1434,LH00995:48:23YTGFLT4:3:2417:15667:5498,LH00995:48:23YTGFLT4:3:2439:20845:11747,LH00995:48:23YTGFLT4:3:2439:20853:11733,LH00995:48:23YTGFLT4:4:2226:41288:14788,LH00995:48:23YTGFLT4:4:2393:3014:11607,LH00995:48:23YTGFLT4:5:1110:28644:3592,LH00995:48:23YTGFLT4:5:1235:2383:2219,LH00995:48:23YTGFLT4:5:1255:46166:27806,LH00995:48:23YTGFLT4:5:1330:35884:24429,LH00995:48:23YTGFLT4:5:1330:35900:24429,LH00995:48:23YTGFLT4:5:1346:41078:14508,LH00995:48:23YTGFLT4:5:1362:6639:15419,LH00995:48:23YTGFLT4:5:1416:36378:8328,LH00995:48:23YTGFLT4:5:2213:36289:2597,LH00995:48:23YTGFLT4:5:2298:13839:3929,LH00995:48:23YTGFLT4:6:1124:20319:1364,LH00995:48:23YTGFLT4:6:1154:43634:18347,LH00995:48:23YTGFLT4:6:1177:17827:19188,LH00995:48:23YTGFLT4:6:1490:26297:15082,LH00995:48:23YTGFLT4:6:2210:32422:1589,LH00995:48:23YTGFLT4:2:2374:15578:9379

MLXIP

FP236383.3

+/+

chr12:122133580

chr21:8399958

CDS

intron

translocation

20623

4430

low

out-of-frame

ENSG00000175727.14

ENSG00000280441.3

ENST00000319080.12

downstream

upstream

duplicates(46),mismatches(40)

TACCGCCCCATCCCTGGCTCACATGGATGAGCAGGGCTGTGAACACACCTCCCGGACTGAGGACCCGTTTATCCAGCCCACGGACTTCGGTCCCTCAGAGCCGCCACTGAGTGTCCCGCAGCCCTTCCTCCCTGTCTTCACCATGCCCCTGCTGTCTCCCAGCCCCGC|GCCCTCTCTCTCTCTCTCTCCCCC

TAPSLAHMDEQGCEHTSRTEDPFIQPTDFGPSEPPLSVPQPFLPVFTMPLLSPSPa|pslslsp

LH00995:48:23YTGFLT4:1:1302:23959:18599,LH00995:48:23YTGFLT4:1:1308:19534:23013,LH00995:48:23YTGFLT4:1:1441:24315:28520,LH00995:48:23YTGFLT4:1:1454:2650:21430,LH00995:48:23YTGFLT4:1:1454:2667:21430,LH00995:48:23YTGFLT4:1:1462:8063:17661,LH00995:48:23YTGFLT4:1:1462:8079:17661,LH00995:48:23YTGFLT4:1:2109:43319:16512,LH00995:48:23YTGFLT4:1:2173:45277:19931,LH00995:48:23YTGFLT4:1:2225:4778:6143,LH00995:48:23YTGFLT4:1:2467:25699:14270,LH00995:48:23YTGFLT4:2:1147:28126:17464,LH00995:48:23YTGFLT4:2:1192:7318:27890,LH00995:48:23YTGFLT4:2:1194:32915:26741,LH00995:48:23YTGFLT4:2:1217:47445:22705,LH00995:48:23YTGFLT4:2:1315:51538:9001,LH00995:48:23YTGFLT4:2:1384:7270:28478,LH00995:48:23YTGFLT4:2:1391:46652:19650,LH00995:48:23YTGFLT4:2:1411:27341:6437,LH00995:48:23YTGFLT4:2:2124:23320:26068,LH00995:48:23YTGFLT4:2:2134:37340:2513,LH00995:48:23YTGFLT4:2:2187:6307:29473,LH00995:48:23YTGFLT4:2:2222:5733:12644,LH00995:48:23YTGFLT4:2:2256:34509:28688,LH00995:48:23YTGFLT4:2:2317:23919:13653,LH00995:48:23YTGFLT4:2:2320:24720:11117,LH00995:48:23YTGFLT4:2:2326:4454:29011,LH00995:48:23YTGFLT4:2:2381:24275:10206,LH00995:48:23YTGFLT4:2:2381:24283:10220,LH00995:48:23YTGFLT4:2:2416:19696:19146,LH00995:48:23YTGFLT4:3:1110:36547:20309,LH00995:48:23YTGFLT4:3:1143:20351:10528,LH00995:48:23YTGFLT4:3:1143:20367:10528,LH00995:48:23YTGFLT4:3:1194:35463:1336,LH00995:48:23YTGFLT4:3:1252:51797:13149,LH00995:48:23YTGFLT4:3:1354:23288:25199,LH00995:48:23YTGFLT4:3:1495:32956:8595,LH00995:48:23YTGFLT4:3:2118:50567:29599,LH00995:48:23YTGFLT4:3:2134:51215:17605,LH00995:48:23YTGFLT4:3:2214:20003:27217,LH00995:48:23YTGFLT4:3:2263:9729:5666,LH00995:48:23YTGFLT4:3:2265:28741:7684,LH00995:48:23YTGFLT4:3:2275:28595:3788,LH00995:48:23YTGFLT4:3:2294:19041:20617,LH00995:48:23YTGFLT4:3:2324:40067:22789,LH00995:48:23YTGFLT4:3:2376:33190:22985,LH00995:48:23YTGFLT4:3:2397:26006:5610,LH00995:48:23YTGFLT4:3:2418:4770:8903,LH00995:48:23YTGFLT4:3:2418:4786:8903,LH00995:48:23YTGFLT4:3:2440:14963:17759,LH00995:48:23YTGFLT4:3:2457:42712:17310,LH00995:48:23YTGFLT4:3:2491:50042:15517,LH00995:48:23YTGFLT4:4:1112:49686:3999,LH00995:48:23YTGFLT4:4:1250:39614:25816,LH00995:48:23YTGFLT4:4:1377:13847:15713,LH00995:48:23YTGFLT4:4:1392:3095:18445,LH00995:48:23YTGFLT4:4:1426:33150:7362,LH00995:48:23YTGFLT4:4:1428:42947:28002,LH00995:48:23YTGFLT4:4:1453:17415:23125,LH00995:48:23YTGFLT4:4:1497:24623:25998,LH00995:48:23YTGFLT4:4:2121:21638:13205,LH00995:48:23YTGFLT4:4:2213:26670:22957,LH00995:48:23YTGFLT4:4:2213:26678:22971,LH00995:48:23YTGFLT4:4:2292:20869:22915,LH00995:48:23YTGFLT4:4:2331:3807:6283,LH00995:48:23YTGFLT4:4:2377:51498:29305,LH00995:48:23YTGFLT4:4:2384:33457:12294,LH00995:48:23YTGFLT4:5:1102:32939:16918,LH00995:48:23YTGFLT4:5:1119:28514:16680,LH00995:48:23YTGFLT4:5:1124:23482:27665,LH00995:48:23YTGFLT4:5:1124:23498:27665,LH00995:48:23YTGFLT4:5:1124:23506:27679,LH00995:48:23YTGFLT4:5:1124:43125:10711,LH00995:48:23YTGFLT4:5:1131:27746:4615,LH00995:48:23YTGFLT4:5:1211:28393:20757,LH00995:48:23YTGFLT4:5:1292:17908:3466,LH00995:48:23YTGFLT4:5:1298:39023:13275,LH00995:48:23YTGFLT4:5:1311:48755:13513,LH00995:48:23YTGFLT4:5:1337:5142:11817,LH00995:48:23YTGFLT4:5:1344:43052:14059,LH00995:48:23YTGFLT4:5:1350:33934:28422,LH00995:48:23YTGFLT4:5:1390:50236:21710,LH00995:48:23YTGFLT4:5:1463:42817:27245,LH00995:48:23YTGFLT4:5:1481:21532:12910,LH00995:48:23YTGFLT4:5:1495:2804:2808,LH00995:48:23YTGFLT4:5:2184:33328:14340,LH00995:48:23YTGFLT4:5:2282:18207:6899,LH00995:48:23YTGFLT4:5:2315:49233:20421,LH00995:48:23YTGFLT4:5:2332:7545:28786,LH00995:48:23YTGFLT4:5:2344:38400:15951,LH00995:48:23YTGFLT4:5:2387:45325:26544,LH00995:48:23YTGFLT4:6:1151:42930:6955,LH00995:48:23YTGFLT4:6:1203:22932:11047,LH00995:48:23YTGFLT4:6:1379:3734:11846,LH00995:48:23YTGFLT4:6:1384:5094:2317,LH00995:48:23YTGFLT4:6:1422:5805:5484,LH00995:48:23YTGFLT4:6:1431:11897:8413,LH00995:48:23YTGFLT4:6:1437:13944:13499,LH00995:48:23YTGFLT4:6:1491:5466:5680,LH00995:48:23YTGFLT4:6:2183:1477:22817,LH00995:48:23YTGFLT4:6:2223:20659:11705,LH00995:48:23YTGFLT4:6:2262:7893:6941,LH00995:48:23YTGFLT4:6:2271:47307:19833,LH00995:48:23YTGFLT4:6:2273:18822:19146,LH00995:48:23YTGFLT4:6:2283:37397:19034,LH00995:48:23YTGFLT4:6:2302:49564:19510

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

4105

4430

low

Transducer_of_regulated_CREB_activity__N_terminus(100%),Transducer_of_regulated_CREB_activity_middle_domain(100%)|

ENSG00000160741.17

ENSG00000280441.3

ENST00000524997.1

upstream

duplicates(10),mismatches(2)

CAGGACTTCATTCACCTCTCAGCCACCCATCCCTGCAGTCCTCCCTAAGCAATCCCAACCTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:2343:8038:7950,LH00995:48:23YTGFLT4:2:2245:10821:21682,LH00995:48:23YTGFLT4:2:2258:39395:23027,LH00995:48:23YTGFLT4:2:2426:18741:22088,LH00995:48:23YTGFLT4:2:2426:18758:22088,LH00995:48:23YTGFLT4:3:1108:29825:1406,LH00995:48:23YTGFLT4:3:1128:33603:17759,LH00995:48:23YTGFLT4:3:1133:33619:7446,LH00995:48:23YTGFLT4:3:2290:19194:18866,LH00995:48:23YTGFLT4:3:2351:42210:28660,LH00995:48:23YTGFLT4:3:2482:28522:16357,LH00995:48:23YTGFLT4:4:1184:50430:4503,LH00995:48:23YTGFLT4:4:1184:50438:4489,LH00995:48:23YTGFLT4:4:1184:50438:4517,LH00995:48:23YTGFLT4:4:1197:40859:3200,LH00995:48:23YTGFLT4:4:2137:43529:7039,LH00995:48:23YTGFLT4:5:1108:23215:21206,LH00995:48:23YTGFLT4:5:1167:21775:25634,LH00995:48:23YTGFLT4:5:1347:13070:20954,LH00995:48:23YTGFLT4:5:1357:41499:13023,LH00995:48:23YTGFLT4:5:1436:10886:8679,LH00995:48:23YTGFLT4:5:2440:15780:21276,LH00995:48:23YTGFLT4:6:1273:12763:14452,LH00995:48:23YTGFLT4:6:1356:6299:12672,LH00995:48:23YTGFLT4:6:1388:23660:9786,LH00995:48:23YTGFLT4:6:1481:47404:24793,LH00995:48:23YTGFLT4:6:2134:39225:13429,LH00995:48:23YTGFLT4:6:2265:15044:10052

PPDPF

FP236383.3

+/+

chr20:63521935

chr21:8399951

3'UTR

intron

translocation

13204

4430

low

stop-codon

Differentiation_and_proliferation_regulator(100%)|

ENSG00000125534.10

ENSG00000280441.3

ENST00000370179.8

downstream

upstream

duplicates(9),mismatches(9),multimappers(10)

GTGTTGGAGTCCGCAGAGCACTCGGAACCTCCCCAGGCCTCCAGCAGCATGACCGCCTGTGGCCTGGCTCGGGACGCCCCGAGGAAGCAGCCCGGCGGTCAGTCCAGCACAGCCAGCGCTGGGCCCCCGTCCTGACCTGAGCGGTTACCACCAGCCCCAGGCCTGCGGAGGCGCTAGTCCACCAGAGCCCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1123:9786:23868,LH00995:48:23YTGFLT4:1:1205:25820:10500,LH00995:48:23YTGFLT4:1:1222:32519:13219,LH00995:48:23YTGFLT4:1:1378:22131:21682,LH00995:48:23YTGFLT4:1:1386:31386:27876,LH00995:48:23YTGFLT4:1:2145:15999:15124,LH00995:48:23YTGFLT4:1:2376:33376:27988,LH00995:48:23YTGFLT4:2:1113:45827:3957,LH00995:48:23YTGFLT4:2:1153:51328:14186,LH00995:48:23YTGFLT4:2:1237:8483:1378,LH00995:48:23YTGFLT4:2:1291:34840:29207,LH00995:48:23YTGFLT4:2:1291:38174:21808,LH00995:48:23YTGFLT4:2:1432:2432:26124,LH00995:48:23YTGFLT4:2:2312:14850:9015,LH00995:48:23YTGFLT4:2:2407:49006:16021,LH00995:48:23YTGFLT4:2:2415:33117:3774,LH00995:48:23YTGFLT4:2:2478:43594:12336,LH00995:48:23YTGFLT4:3:1119:37583:7670,LH00995:48:23YTGFLT4:3:1119:37591:7656,LH00995:48:23YTGFLT4:3:1142:27875:13079,LH00995:48:23YTGFLT4:3:1142:27891:13079,LH00995:48:23YTGFLT4:3:1151:38983:15727,LH00995:48:23YTGFLT4:3:1374:10077:19048,LH00995:48:23YTGFLT4:3:2223:24647:1210,LH00995:48:23YTGFLT4:3:2258:13887:17577,LH00995:48:23YTGFLT4:3:2270:39525:27511,LH00995:48:23YTGFLT4:4:1118:14502:5442,LH00995:48:23YTGFLT4:4:1249:42874:28772,LH00995:48:23YTGFLT4:4:1273:48003:6661,LH00995:48:23YTGFLT4:4:1485:42138:1939,LH00995:48:23YTGFLT4:4:2131:5280:10122,LH00995:48:23YTGFLT4:4:2189:6024:22985,LH00995:48:23YTGFLT4:4:2443:38457:19328,LH00995:48:23YTGFLT4:5:1380:35188:27007,LH00995:48:23YTGFLT4:5:1424:3306:14494,LH00995:48:23YTGFLT4:5:1450:48796:24429,LH00995:48:23YTGFLT4:5:1464:49378:10921,LH00995:48:23YTGFLT4:5:1494:24210:22761,LH00995:48:23YTGFLT4:5:2161:49087:22775,LH00995:48:23YTGFLT4:6:1133:8896:19833,LH00995:48:23YTGFLT4:6:1182:43626:22929,LH00995:48:23YTGFLT4:6:1214:21290:14984,LH00995:48:23YTGFLT4:6:2114:30221:7754,LH00995:48:23YTGFLT4:6:2125:16703:11159

IGH@-ext

FP236383.3

-/-

+/+

chr14:105707156

chr21:8399951

exon

intron

translocation

32068

4430

low

IGH.g@-ext

ENSG00000280441.3

IGH.t@-ext

upstream

duplicates(3),mismappers(6)

GCAGCCGAGGACTGGAAGAAGGGGGACACCTTCTCCTGCATGGTGGGCCACGAGGCCCTGCCGCTGGCCTTCACACAGAAGACCATCGACCGCTTGGCGGGTAAACCCACCCATGTCAATGTGTCTGTTGTCATGGCGGAGGTGGACGGCACCTGCTACTGAGCCGCCCGCCTG|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1366:45058:21374,LH00995:48:23YTGFLT4:1:1366:45074:21374,LH00995:48:23YTGFLT4:1:2150:49823:21780,LH00995:48:23YTGFLT4:2:1227:11250:20211,LH00995:48:23YTGFLT4:2:2124:41385:24401,LH00995:48:23YTGFLT4:2:2227:9050:5442,LH00995:48:23YTGFLT4:3:2223:1542:10626,LH00995:48:23YTGFLT4:4:1333:30795:7095,LH00995:48:23YTGFLT4:4:2160:48513:14718,LH00995:48:23YTGFLT4:4:2201:7715:20813,LH00995:48:23YTGFLT4:4:2262:1065:18039,LH00995:48:23YTGFLT4:4:2262:1073:18053,LH00995:48:23YTGFLT4:4:2426:37332:17240,LH00995:48:23YTGFLT4:5:1252:24841:23826,LH00995:48:23YTGFLT4:5:1282:23264:6100,LH00995:48:23YTGFLT4:5:1293:24777:16231,LH00995:48:23YTGFLT4:5:1293:24793:16231,LH00995:48:23YTGFLT4:5:1478:27034:18964,LH00995:48:23YTGFLT4:5:2483:28603:10697,LH00995:48:23YTGFLT4:6:1191:4446:3326

LEO1

-/-

chr15:51938155

chr15:51938214

3'UTR

CDS

duplication/ITD

221

294

low

in-frame

Leo1-like_protein(100%)|

ENSG00000166477.13

ENST00000299601.10

upstream

downstream

duplicates(7)

AGCAAAGAAACTTACCAGTGATGAG___GAAGGTGAACCTTCCGGAAAGAGAAAAGCAGAAGATGATGATAAAGCAAATAAAAAGCATAAGAAGTATGTGATCAGCGATGAAGAGGAAGAAGATGATGATaaA|g|CAAATAAAAAGCATAAGAAGTATGTGATCAGCGATGAAGAGGAAGAAGATGATGATaaAg

AKKLTSDEEGEPSGKRKAEDDDKANKKHKKYVISDEEEEDDDk|aNKKHKKYVISDEEEEDDDk

LH00995:48:23YTGFLT4:2:1105:49718:22663,LH00995:48:23YTGFLT4:2:2207:19995:27595,LH00995:48:23YTGFLT4:2:2207:19995:27595,LH00995:48:23YTGFLT4:3:2417:18636:22215,LH00995:48:23YTGFLT4:3:2417:18636:22215,LH00995:48:23YTGFLT4:4:2280:6477:8581,LH00995:48:23YTGFLT4:4:2308:25213:1575,LH00995:48:23YTGFLT4:4:2448:9972:22901,LH00995:48:23YTGFLT4:4:2448:9980:22915,LH00995:48:23YTGFLT4:5:2385:12682:28212,LH00995:48:23YTGFLT4:5:2385:12682:28212,LH00995:48:23YTGFLT4:6:1225:28061:21892,LH00995:48:23YTGFLT4:6:1411:10231:23994,LH00995:48:23YTGFLT4:6:1411:10231:23994,LH00995:48:23YTGFLT4:6:2192:15748:22088,LH00995:48:23YTGFLT4:2:1105:49718:22663,LH00995:48:23YTGFLT4:4:2280:6477:8581,LH00995:48:23YTGFLT4:4:2308:25213:1575,LH00995:48:23YTGFLT4:4:2448:9972:22901,LH00995:48:23YTGFLT4:4:2448:9980:22915,LH00995:48:23YTGFLT4:6:1225:28061:21892,LH00995:48:23YTGFLT4:6:2192:15748:22088

ZNF703

FP236383.3

+/+

chr8:37698690

chr21:8399951

3'UTR

intron

translocation

4765

4430

low

stop-codon

NocA-like_zinc-finger_protein_1(100%)|

ENSG00000183779.7

ENSG00000280441.3

ENST00000331569.6

downstream

upstream

duplicates(1),mismatches(1),multimappers(1)

CTATGGCAAGAGCCACTTATCCACAGCGGGGGGCCTGGCCGTGCCGTCCCTCCCCACAGCCGGACCCTACTATTCGCCATACGCGCTGTATGGACAGAGACTAGCTTCAGCCTCGGCGCTGGGATACCAGTAACTACAGCTCTTCCTCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1166:33336:20911,LH00995:48:23YTGFLT4:1:1361:15327:18669,LH00995:48:23YTGFLT4:1:1431:22261:9267,LH00995:48:23YTGFLT4:1:2282:37858:11846,LH00995:48:23YTGFLT4:1:2292:44824:23462,LH00995:48:23YTGFLT4:1:2361:37680:7754,LH00995:48:23YTGFLT4:2:2292:37162:4615,LH00995:48:23YTGFLT4:3:1485:51838:6885,LH00995:48:23YTGFLT4:3:2239:47914:26853,LH00995:48:23YTGFLT4:3:2282:22503:2906,LH00995:48:23YTGFLT4:5:1238:9122:4531,LH00995:48:23YTGFLT4:5:2128:47129:27623,LH00995:48:23YTGFLT4:5:2472:48270:26292,LH00995:48:23YTGFLT4:6:1210:46385:13779,LH00995:48:23YTGFLT4:6:2275:5280:18866,LH00995:48:23YTGFLT4:6:2298:47307:5876

NXPE4

-/-

chr11:114580132

chr11:114583021

CDS/splice-site

duplication/non-canonical_splicing

1238

1578

low

out-of-frame

Neurexophilin(100%)|Neurexophilin(100%)

ENSG00000137634.10

ENST00000375478.4

upstream

downstream

duplicates(5)

TAGTTTGGCTACAGTCAAAATGAAGGAATGCCTGAGAGGAAAACTCATATACCTAATGGGAGATTCCACGATCCGCCAGTGGATGGAATACTTCAAAGCCAGTATCAACA|GTTTGGTCTGCTCTAAACTTATCCATCTCCCTCCATTACTGGAACAACTCCACAAAGTCCTTATTCCCTAAAACACCACTGATATCATTAAAGCCACTAACAGAGAC

SLATVKMKECLRGKLIYLMGDSTIRQWMEYFKASIN|slvcsklihlpplleqlhkvlip*

LH00995:48:23YTGFLT4:3:1255:43003:13275,LH00995:48:23YTGFLT4:3:2206:12197:27343,LH00995:48:23YTGFLT4:5:1346:8046:5666,LH00995:48:23YTGFLT4:6:2382:28822:3228,LH00995:48:23YTGFLT4:1:2235:30504:12224,LH00995:48:23YTGFLT4:2:1124:25165:16147,LH00995:48:23YTGFLT4:2:1124:25173:16161,LH00995:48:23YTGFLT4:2:2124:27195:24204,LH00995:48:23YTGFLT4:2:2198:23134:23672,LH00995:48:23YTGFLT4:3:1427:3993:20169,LH00995:48:23YTGFLT4:3:2316:17851:1715,LH00995:48:23YTGFLT4:4:1221:49669:6717,LH00995:48:23YTGFLT4:5:2143:14162:10038,LH00995:48:23YTGFLT4:6:1401:45171:10668,LH00995:48:23YTGFLT4:6:1480:38254:21388

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

102

low

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(9)

CTGGAGCAGAACAgTTTTTCCCTGAATAGAAGAATGCAGAAAG___CACGTCATTGTGGCCATTGTCCTGAGGAGTGGATTACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGG___AGATGAGTGAATTTCATAATTATAACTTGGATCTGAAGAAGAGTGATTTTTC...C

LH00995:48:23YTGFLT4:2:2214:48699:6409,LH00995:48:23YTGFLT4:2:2214:48707:6423,LH00995:48:23YTGFLT4:3:1319:22325:7810,LH00995:48:23YTGFLT4:3:2193:1615:26474,LH00995:48:23YTGFLT4:4:1104:19963:11902,LH00995:48:23YTGFLT4:4:1104:19971:11888,LH00995:48:23YTGFLT4:1:1334:24946:3494,LH00995:48:23YTGFLT4:1:1334:24954:3508,LH00995:48:23YTGFLT4:1:1334:24963:3494,LH00995:48:23YTGFLT4:1:2158:46353:1420,LH00995:48:23YTGFLT4:2:1178:20683:9898,LH00995:48:23YTGFLT4:2:1178:20691:9884,LH00995:48:23YTGFLT4:2:1188:42583:19440,LH00995:48:23YTGFLT4:4:2183:3241:14017,LH00995:48:23YTGFLT4:4:2432:33481:10150,LH00995:48:23YTGFLT4:4:2437:39929:18067,LH00995:48:23YTGFLT4:4:2438:17908:14928,LH00995:48:23YTGFLT4:6:1361:25205:8258

SPATA13

+/+

chr13:24017701

chr13:24222819

exon/splice-site

5'UTR/splice-site

deletion/read-through

624

low

|PH_domain(100%),RhoGEF_domain(100%),SH3_domain(100%)

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

duplicates(2)

CGCTGCCTGTGCAGCACCACAGGCCTGATGAAAATGAAATGGCAACACCGTGCAGATGGCAAAGCGTAGGCCTCACAAACATCCTGGCCGTGAAG___AGCTTGTCTTCAAGAGTAGCTGGTGCAGAAACTCG|CCCGTGGCCACCCAGGAGCCCGATGTGCAAGGCAGGTGTGAGTGCCAGGACGGCATTCCTGGAGATGAAGGCCTGGAGCTGCGGTCTGCGGACTCGGCAGTGCCCGTGGCCATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGACCTGAAAGACGCCAAGATGGTGAC

LH00995:48:23YTGFLT4:4:1118:48359:17170,LH00995:48:23YTGFLT4:2:2245:41482:22859,LH00995:48:23YTGFLT4:2:2393:37397:22173,LH00995:48:23YTGFLT4:4:1213:12722:15559,LH00995:48:23YTGFLT4:4:1213:12731:15573,LH00995:48:23YTGFLT4:4:1213:12739:15559,LH00995:48:23YTGFLT4:5:1213:6744:24344,LH00995:48:23YTGFLT4:5:2276:46425:12981,LH00995:48:23YTGFLT4:6:1138:31127:4307,LH00995:48:23YTGFLT4:6:1407:17851:16456

SPATA13

+/+

chr13:23983933

chr13:24222819

exon/splice-site

5'UTR/splice-site

deletion/read-through

624

low

|PH_domain(100%),RhoGEF_domain(100%),SH3_domain(100%)

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

GGCAAAGCGTAGGCCTCACAAACATCCTGGCCGTGAAG|CCCGTGGCCACCCAGGAGCCCGATGTGCAAGGCAGGTGTGAGTGCCAGGACGGCATTCCTGGAGATGAAGGCCTGGAGCTGCGGTCTGCGGACTCGGCAGTGCCCGTGGCCATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGACCTGAAAGACGCCAAGATGGTGACCTCCCTTGCGTGTGGAAATGGAGTCTGTGGCTGCAGCCCTGGTGGCGACACGGACACCCAGGAAGCCAAACTCAGCC

LH00995:48:23YTGFLT4:3:2326:26265:16596,LH00995:48:23YTGFLT4:5:2206:17229:15377,LH00995:48:23YTGFLT4:6:2204:9381:18543

SPATA13

+/+

chr13:23983933

chr13:24249477

exon/splice-site

CDS/splice-site

deletion/read-through

2119

low

|PH_domain(100%),RhoGEF_domain(100%),SH3_domain(100%)

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

GGCAACACCGTGCAGATGGCAAAGCGTAGGCCTCACAAACATCCTGGCCGTGAAG|GTCGTCCCTGATGGCCCCTGGAGGCGAAGCTCATCACAGGATGAGGAAAGGACAGAGGCACAG

LH00995:48:23YTGFLT4:3:1248:26354:25746

SPATA13

+/+

chr13:24017701

chr13:24249477

exon/splice-site

CDS/splice-site

deletion/read-through

2119

low

|PH_domain(100%),RhoGEF_domain(100%),SH3_domain(100%)

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

CTTGTCTTCAAGAGTAGCTGGTGCAGAAACTCG|GTCGTCCCTGATGGCCCCTGGAGGCGAAGCTCATCAC

LH00995:48:23YTGFLT4:2:1440:4495:10136

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

2067

4361

low

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

GATGTCCGGGAGCTGGTGGAAAAGTCAG___GTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAAAGTGAAACGATCTGTGAAAGATGCTGCCAAGAAG

DVRELVEKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDAAK

LH00995:48:23YTGFLT4:5:2188:49006:17114,LH00995:48:23YTGFLT4:1:2355:30617:10066,LH00995:48:23YTGFLT4:2:1295:6250:14634,LH00995:48:23YTGFLT4:2:2110:35941:9674,LH00995:48:23YTGFLT4:4:2353:52032:5260,LH00995:48:23YTGFLT4:5:1291:6000:20869,LH00995:48:23YTGFLT4:5:2347:38724:25956

RNF103

CHMP3

-/-

chr2:86620330

chr2:86510479

CDS/splice-site

deletion/read-through

2067

5717

low

out-of-frame

|Snf7(53%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

GGCGCTGAGCTTCAAGAAGCTGAAGACCATTTTGGAGTGCCGGGGGTTGGGCTACTCAGGGTTGCCCGAGAAGAAGGATGTCCGGGAGCTGGTGGAAAAGTCAG___GTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|CGGTCTTGCGAGTGGCTGGTTCCC

ALSFKKLKTILECRGLGYSGLPEKKDVRELVEKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|rscewlv

LH00995:48:23YTGFLT4:5:1480:39452:7095

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

412

1129

low

out-of-frame

Rad51(100%)|Zinc_finger__C3HC4_type_(RING_finger)(100%)

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(1)

CTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGCTCACTTTGC...ATGGGCCCCGCCTCTGCCTTCTCTGCCAACGGTTTCGAGCTACAGCCTTTCAGCGAGAGGAGCTCATGAAGATGAAGGTGAAGGACTTGAGGGACTATCTCAGCCTCCATGACATCTCTACCGAAATGTGCCGGGAGAAAGAAGAGCTGG

ALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgtapslpqqawnqaaspvgltl

LH00995:48:23YTGFLT4:1:1390:37389:21066,LH00995:48:23YTGFLT4:1:2112:35140:29277,LH00995:48:23YTGFLT4:3:1290:22050:15545,LH00995:48:23YTGFLT4:6:1169:36612:9576,LH00995:48:23YTGFLT4:6:2118:40690:15461,LH00995:48:23YTGFLT4:6:2247:44338:21052,LH00995:48:23YTGFLT4:2:1436:24178:27721

TRIM59

IFT80

-/-

chr3:160438232

chr3:160384646

CDS/splice-site

5'UTR/splice-site

deletion/read-through

576

294

low

out-of-frame

B-box_zinc_finger(100%),RING-type_zinc-finger(100%)|WD_domain__G-beta_repeat(100%)

ENSG00000213186.8

ENSG00000068885.15

ENST00000543469.1

ENST00000496589.5

upstream

downstream

duplicates(5)

AATGAAGGAAATACGAGAGCAGCAGCTTGAATTAATGGCACTGACAATATCTTTACAAGAAGAGTCTCCACTTAAATTTCTTGAAAAAGTTGATGATGTACGCCAGCATGTACAGATCTTGAAACAAAGACCACTTCCTGAGGTTCAACCCGTTGAAATTTATCCTCGAGTAAGCAAAATATTGAAAGAAGAATGGAGCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|TAAATACAATCAAGTGGCATCTTAAATTTTTGCTGGAAGTGGAGTCATGAGACTAAAGATATCTCTTTTAAAAGAACCAAAGCATATCCTTTTAATGCTTATAAATCTTATTGGATTTTCTTAATTATAGTATTGTTAAA

MKEIREQQLELMALTISLQEESPLKFLEKVDDVRQHVQILKQRPLPEVQPVEIYPRVSKILKEEWSRTEIGQIKNVLIPKMKISPKRMSCSWP|vntikwhlkflleves*

LH00995:48:23YTGFLT4:1:1187:28360:22887,LH00995:48:23YTGFLT4:2:2392:34161:7600,LH00995:48:23YTGFLT4:3:1125:38821:9085,LH00995:48:23YTGFLT4:3:1185:46247:21332,LH00995:48:23YTGFLT4:3:1185:46264:21332,LH00995:48:23YTGFLT4:3:2103:25699:25676,LH00995:48:23YTGFLT4:5:1497:14664:23686,LH00995:48:23YTGFLT4:5:2378:26168:17268,LH00995:48:23YTGFLT4:5:2378:26176:17282,LH00995:48:23YTGFLT4:2:2323:25416:25858

TRIM59

IFT80

-/-

chr3:160438232

chr3:160391643

CDS/splice-site

5'UTR/splice-site

deletion/read-through

576

low

out-of-frame

B-box_zinc_finger(100%),RING-type_zinc-finger(100%)|WD_domain__G-beta_repeat(100%)

ENSG00000213186.8

ENSG00000068885.15

ENST00000543469.1

ENST00000487943.5

upstream

downstream

AAACAAAGACCACTTCCTGAGGTTCAACCCGTTGAAATTTATCCTCGAGTAAGCAAAATATTGAAAGAAGAATGGAGCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|GCTGGAGTGCAGTGGTGTGATCTCGGTTTACTGCAACCTCCACCTCCTGAGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG___TAAATACAATCAAGTGGCATCTTAAATTTTTGCTGGAAGTGG

KQRPLPEVQPVEIYPRVSKILKEEWSRTEIGQIKNVLIPKMKISPKRMSCSWP|gwsavv*

LH00995:48:23YTGFLT4:6:2189:15602:3228,LH00995:48:23YTGFLT4:2:2323:25416:25858

NDUFC2

KCTD14

-/-

chr11:78072998

chr11:78038758

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3348

low

out-of-frame

NADH-ubiquinone_oxidoreductase_subunit_b14.5b_(NDUFC2)(82%)|BTB/POZ_domain(100%)

ENSG00000151366.13

ENSG00000151364.17

ENST00000281031.5

ENST00000533144.1

upstream

downstream

duplicates(2)

CCAGCTTCTATATATTACGGCCTTTTTTTTTGCTGGATATTATCTTGTAAAACGTGAAGACTACCTGTATGCTGTGAGGGACCGTGAAATGTTTGGATATATGAAATTACATCCAGAGGATTTTCCTGAAGAAG|GGGGTGACATTGGCCTCTGTTGCTTGTCCCCAGGATCCCTCTCTGACACCCCTGCTGTGTTTGCTGTGGGGAGTTCTGCTGCC

QLLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEE|ggdiglcclspgslsdtpavfavgssa

LH00995:48:23YTGFLT4:3:1416:22584:9267,LH00995:48:23YTGFLT4:4:1194:51336:16301,LH00995:48:23YTGFLT4:5:2115:42761:10556,LH00995:48:23YTGFLT4:5:2242:30043:7670,LH00995:48:23YTGFLT4:1:2137:24372:15727,LH00995:48:23YTGFLT4:2:1233:14138:16498,LH00995:48:23YTGFLT4:3:2216:3977:8455

NDUFC2

KCTD14

-/-

chr11:78072998

chr11:78017270

CDS/splice-site

deletion/read-through

3348

1009

low

out-of-frame

NADH-ubiquinone_oxidoreductase_subunit_b14.5b_(NDUFC2)(82%)|BTB/POZ_domain(100%)

ENSG00000151366.13

ENSG00000151364.17

ENST00000281031.5

ENST00000533144.1

upstream

downstream

duplicates(2)

GGCGGAGGCCGATCGCGACGGCTG___GTTTGCATCGCCAGtTTCTATATATTACGGCCTTTTTTTTTGCTGGATATTATCTTGTAAAACGTGAAGACTACCTGTATGCTGTGAGGGACCGTGAAATGTTTGGATATATGAAATTACATCCAGAGGATTTTCCTGAAGAAG|ATGTCTACTGTTGTGGAGCTGAACGTCGGGGGTGAGTTCCACACCACCACCCTGGGTACCCTGAGGAAGTTTCCGGGCTCAAAGCTGGC

RRPIATAGLHRQfLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEE|dvyccgaerrg*

LH00995:48:23YTGFLT4:1:2353:46450:23476,LH00995:48:23YTGFLT4:1:2353:46458:23490,LH00995:48:23YTGFLT4:3:1388:40350:11565,LH00995:48:23YTGFLT4:1:1241:52064:25578

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

570

2257

low

out-of-frame

C1q_domain(100%),Collagen_triple_helix_repeat_(20_copies)(100%)|CoA-transferase_family_III(77%),Lyase(100%)

ENSG00000082196.21

ENSG00000242110.8

ENST00000382065.8

ENST00000335606.11

upstream

downstream

GATGTTGAGGAAGTGTATGTGTACCTTATGCACAATGGCAACACAGTCTTCAGCATGTACAG___CTATGAAATGAAGGGCAAATCAGATACATCCAGCAATCATGCTGTGCTGAAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCT

DVEEVYVYLMHNGNTVFSMYSYEMKGKSDTSSNHAVLKLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvs

LH00995:48:23YTGFLT4:6:1222:16978:22817,LH00995:48:23YTGFLT4:6:2212:47429:6843,LH00995:48:23YTGFLT4:3:1248:32324:11229,LH00995:48:23YTGFLT4:3:2330:7796:15853,LH00995:48:23YTGFLT4:4:1383:25262:21304

BRCA1

-/-

chr17:43090944

chr17:43094860

CDS/splice-site

duplication/non-canonical_splicing

583

620

low

out-of-frame

Serine-rich_domain_associated_with_BRCT(100%),Zinc_finger__C3HC4_type_(RING_finger)(100%)|BRCA1_C_Terminus_(BRCT)_domain(100%),Serine-rich_domain_associated_with_BRCT(100%)

ENSG00000012048.23

ENST00000471181.7

upstream

downstream

duplicates(1)

TCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAG___GTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAG|CTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTA

SESQGVGLSDKELVSDDEERGTGLEENNQEEQSMDSNLGEAASGCESETSVSEDCSGLSSQSDILTTQ|llvnflrrm*

LH00995:48:23YTGFLT4:2:1249:21613:20785,LH00995:48:23YTGFLT4:4:2169:8095:5722,LH00995:48:23YTGFLT4:5:2458:12633:10472,LH00995:48:23YTGFLT4:3:2285:21136:21052,LH00995:48:23YTGFLT4:3:2285:21144:21038,LH00995:48:23YTGFLT4:6:1324:31871:7754

ZNF547

ZNF548(7888),ZNF17(281)

+/+

./+

chr19:57371908

chr19:57410880

CDS/splice-site

intergenic

deletion/read-through

428

low

out-of-frame

KRAB_box(98%)|

ENSG00000152433.15

ENST00000282282.4

downstream

upstream

duplicates(1)

CTCAGAGATTGCTGTACCGTGATGTGATGCTGGAGAATTTGGCCCTTTTGTCCTCACTAG|ACTGCCTTCCGGGAAAATCTGGATGCTTGCCGTTTAAAAGCCAATGAAGCCCCTCCACGTCCTTGGAGCCCCG

QRLLYRDVMLENLALLSSL|dclpgksgclpfksq*

LH00995:48:23YTGFLT4:3:2193:12464:13513,LH00995:48:23YTGFLT4:4:1246:10926:18501,LH00995:48:23YTGFLT4:6:2353:27131:16021,LH00995:48:23YTGFLT4:2:1168:50438:27413,LH00995:48:23YTGFLT4:6:2333:4171:11761

TLCD4

RWDD3

+/+

chr1:95173889

chr1:95244211

CDS/splice-site

deletion/read-through

1723

728

low

out-of-frame

TLC_domain(57%)|RWD_domain(76%)

ENSG00000152078.10

ENSG00000122481.17

ENST00000370203.9

ENST00000370202.5

downstream

upstream

duplicates(5)

GGAACTCAAG___GGTAGTATCCACATGCCATTCTTTGGTGGTTGGTATTTTTGGCCTGTACATTTTCTTATTCGATGAGGCTACTAAAGCTGATCCACTTTG___GGGTGGTCCATCACTTGCAAACGTGAATATTGCTATTGCCTCAGGCTACCTCATTTCTG___ATTTGTCCATTATAATTTTGTATTGGAAAGTGATTGGTGACAAATTTTTTATAATGCATCATTGTGCGTCCCTGTATGCATACTACCTTGTACTG___AAAAATGGAGTGCTGGCATACATTGGGAATTTTCGCCTGCTTGCAGAGCTTTCCAGCCCGTTTGTGAATCAGCG|AGACAGATGGGACCGTGTTCAGAATTCACACAAAAGCTGAAGGA?TTATGGATGcGGATATACCTCTGGAATTGGTGTTCCATTTGCCAGTCAATTATCCTTCATGTCTACCTGGTATCTCGATTAACTCTGAACAGTTGACCAGGGCCCAGTGTGTGACTGTGAAAGAGAAgTTACTTGAGCAAGCAGAGAGCCTTTTGTCGGAGCCTATGGTTCATGAGCTGGTTCTCTGGATTCAGCAGAATCTCAGGCATATCCTCA

NSRVVSTCHSLVVGIFGLYIFLFDEATKADPLWGGPSLANVNIAIASGYLISDLSIIILYWKVIGDKFFIMHHCASLYAYYLVLKNGVLAYIGNFRLLAELSSPFVNQr|drwdrvqnshks*

LH00995:48:23YTGFLT4:1:1466:43473:11425,LH00995:48:23YTGFLT4:3:1447:33506:29669,LH00995:48:23YTGFLT4:5:1362:7917:10178,LH00995:48:23YTGFLT4:5:1362:7933:10178,LH00995:48:23YTGFLT4:5:1482:31960:2219,LH00995:48:23YTGFLT4:1:1275:38238:28618,LH00995:48:23YTGFLT4:2:2249:49653:14256,LH00995:48:23YTGFLT4:2:2249:49661:14242,LH00995:48:23YTGFLT4:2:2465:46620:8609

TLCD4

RWDD3

+/+

chr1:95173889

chr1:95246756

CDS/splice-site

deletion/read-through

1723

610

low

in-frame

TLC_domain(57%)|

ENSG00000152078.10

ENSG00000122481.17

ENST00000370203.9

ENST00000370202.5

downstream

upstream

duplicates(1)

GAAAAATGGAGTGCTGGCATACATTGGGAATTTTCGCCTGCTTGCAGAGCTTTCCAGCCCGTTTGTGAATCAGCG|GTTTCTGGCATTTGAAGTCAAAGAGTATTCAGCGTTGGATGAATTACAAAAGGAATTTGAAACTGCAGGACTTAAGAAGCTTT

KNGVLAYIGNFRLLAELSSPFVNQr|FLAFEVKEYSALDELQKEFETAGLKKL

LH00995:48:23YTGFLT4:2:1332:47186:19202,LH00995:48:23YTGFLT4:2:2460:30844:4601

PCDHA3

PCDHAC2

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

587

low

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000255408.4

ENSG00000243232.6

ENST00000532566.3

ENST00000289269.7

downstream

upstream

duplicates(9)

GTCCAATTAGCCGGGATAGAGAGGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG

PISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

LH00995:48:23YTGFLT4:1:1480:18216:10220,LH00995:48:23YTGFLT4:1:1480:18232:10220,LH00995:48:23YTGFLT4:1:2152:32899:22649,LH00995:48:23YTGFLT4:1:2315:22592:18221,LH00995:48:23YTGFLT4:1:2422:20141:18992,LH00995:48:23YTGFLT4:2:1217:26500:28744,LH00995:48:23YTGFLT4:2:1217:26508:28758,LH00995:48:23YTGFLT4:2:1217:26516:28744,LH00995:48:23YTGFLT4:3:2304:31928:8272,LH00995:48:23YTGFLT4:3:2460:23701:10584,LH00995:48:23YTGFLT4:4:1450:7634:5092,LH00995:48:23YTGFLT4:5:1119:37939:11369,LH00995:48:23YTGFLT4:6:2241:11808:28464

LY75

CD302

-/-

chr2:159808449

chr2:159783469

CDS/splice-site

deletion/read-through

459

1235

low

in-frame

Fibronectin_type_II_domain(100%),Lectin_C-type_domain(94%)|Lectin_C-type_domain(99%)

ENSG00000054219.11

ENSG00000241399.7

ENST00000263636.5

ENST00000259053.6

upstream

downstream

duplicates(1)

CAGTACAAGGGTCACTGTTACAAGTCTGATCAGGCATTGCACAGTTTTTCAGAGGCCAAAAAATTGTGTTCAAAACATG___ATCACTCTGCAACTATCGTTTCCATAAAAGATGAAGATGAGAATAAATTTGTGAGCAGACTGATGAGGGAAAATAATAACATTACCATGAGAGTTTGGCTTGGATTATCTCAACATTCTGTTG|ACTGTCCTTCgTCTACTTGGATTCAGTTCCAAGACAGTTGTTACATTTTTCTCCAAGAAGCCATCAAAGTAGAAAGCATAGAGGATGTCAGAAATCAGTGTACTGACCATG___GAGCGGACATGATAAGC...ATTCAAATATGACATTTGATAAGTGGACAGACCAAGATGATGATGAGGATTTAGTTGACACCTGTGCTTTTCTGCACATCAAGACAGGTGAATGGAAAAAAGGAAATTGTGAAGTTTCTTCTGTGGAAGGAACACTATGCAAAACAGCTA

QYKGHCYKSDQALHSFSEAKKLCSKHDHSATIVSIKDEDENKFVSRLMRENNNITMRVWLGLSQHSV|dCPSSTWIQFQDSCYIFLQEAIKVESIEDVRNQCTDHGADMI

LH00995:48:23YTGFLT4:1:2194:31329:9421,LH00995:48:23YTGFLT4:1:2194:31338:9407,LH00995:48:23YTGFLT4:2:2294:36928:11944,LH00995:48:23YTGFLT4:6:2162:33514:20771,LH00995:48:23YTGFLT4:3:1210:34266:22551

LY75

CD302

-/-

chr2:159806973

chr2:159783469

CDS/splice-site

deletion/read-through

723

1235

low

in-frame

Fibronectin_type_II_domain(100%),Lectin_C-type_domain(100%)|Lectin_C-type_domain(99%)

ENSG00000054219.11

ENSG00000241399.7

ENST00000263636.5

ENST00000429078.6

upstream

downstream

duplicates(3),read_through(8)

TAAAAGATGAAGATGAGAATAAATTTGTGAGCAGACTGATGAGGGAAAATAATAACATTACCATGAGAGTTTGGCTTGGATTATCTCAACATTCTGTTG___ACCAGTCTTGGAGTTGGTTAGATGGATCAGAAGTGACATTTGTCAAATGGGAAAATAAAAGTAAGAGTGGTGTTGGAAGATGTAGCATGTTGATAGCTTCAAATGAAACTTGGAAAAAAGTTGAATGTGAACATGGTTTTGGAAGAGTTGTCTGCAAAGTGCCTCTGG|ACTGTCCTTCgTCTACTTGGATTCAGTTCCAAGACAGTTGTTACATTTTTCTCCAAGAAGCCATCAAAGTAGAAAGCATAGAGGATGTCAGAAATCAGTGTACTGACCATGG

KDEDENKFVSRLMRENNNITMRVWLGLSQHSVDQSWSWLDGSEVTFVKWENKSKSGVGRCSMLIASNETWKKVECEHGFGRVVCKVPL|dCPSSTWIQFQDSCYIFLQEAIKVESIEDVRNQCTDH

LH00995:48:23YTGFLT4:2:1104:9114:17745,LH00995:48:23YTGFLT4:4:1144:47663:17198,LH00995:48:23YTGFLT4:4:1341:29970:14438,LH00995:48:23YTGFLT4:5:1321:14510:23868,LH00995:48:23YTGFLT4:2:1436:11816:17717,LH00995:48:23YTGFLT4:3:2111:21565:29081,LH00995:48:23YTGFLT4:3:2111:21573:29095,LH00995:48:23YTGFLT4:3:2464:34760:2583,LH00995:48:23YTGFLT4:3:2464:34768:2597,LH00995:48:23YTGFLT4:3:2464:34776:2611,LH00995:48:23YTGFLT4:5:1302:29323:17829

PCDHA3

PCDHAC1

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

587

low

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000255408.4

ENSG00000248383.5

ENST00000532566.3

ENST00000253807.3

downstream

upstream

duplicates(9)

PISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

PCDHA3

PCDHA13

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

587

low

in-frame

Cadherin-like(100%),Cadherin_domain(100%)|Cadherin_C-terminal_cytoplasmic_tail__catenin-binding_region(100%)

ENSG00000255408.4

ENSG00000239389.8

ENST00000532566.3

ENST00000289272.3

downstream

upstream

duplicates(9)

PISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATP

MUC17

+/+

chr7:101048115

chr7:101031120

CDS/splice-site

duplication/non-canonical_splicing

243

118

low

in-frame

|SEA_domain(100%)

ENSG00000169876.14

ENST00000306151.9

downstream

upstream

duplicates(3)

ACCACAACAT___GCTTTGGAGATGGGTGCCAGAATACGGCCTCTCGCTGCAAGAATGGAGGCACCTGGGATGGGCTCAAGTGCCAGTGTCCCAACCTCTATTATGGGGAGTTGTGTGAGGAGGTGGTCAGCAGCATTGACATAG|ACCTCAGTGTGAACAGGGCTGTGTGGGATGGAGGAGGGTGCATCTCCCAAGGGGACGTCTTGAACCGTCAGTGCCAGCAGCTGTCTCAGCACGTTAGGACAG___GTTCTGCGGCAAACACCGCCACAGGTACAACATCTACAAATGTCGTGGAGCCAAGAATGTATTTGAGTTGCAGCACCAACCCTGAGATGACCTCGATTGAGTCCAGTGTGACTTCAGACACcCC

TTTCFGDGCQNTASRCKNGGTWDGLKCQCPNLYYGELCEEVVSSIDI|dLSVNRAVWDGGGCISQGDVLNRQCQQLSQHVRTGSAANTATGTTSTNVVEPRMYLSCSTNPEMTSIESSVTSDT

LH00995:48:23YTGFLT4:2:1148:24963:27371,LH00995:48:23YTGFLT4:3:1237:38699:27427,LH00995:48:23YTGFLT4:3:2423:42219:24022,LH00995:48:23YTGFLT4:3:2423:42227:24008,LH00995:48:23YTGFLT4:4:1324:25634:4209,LH00995:48:23YTGFLT4:5:1339:48335:11467,LH00995:48:23YTGFLT4:5:2375:22341:1504

PEDS1

UBE2V1

-/-

chr20:50127975

chr20:50096820

CDS/splice-site

deletion/read-through

1237

3919

low

in-frame

Lipid_desaturase_domain(82%)|Ubiquitin-conjugating_enzyme(98%)

ENSG00000240849.11

ENSG00000244687.12

ENST00000371652.9

ENST00000340309.7

upstream

downstream

ACCAGATCCACAAGTGGTCGCACACGTACTTTGGGCTGCCACGCTGGGTCACCCTCCTGCAGGACTGGCATGTCATCCTGCCACGTAAACACCATCGCATCCACCACGTCTCACCCCACGAGACCTACTTCTGCATCACCACAG|GAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGGGGTCTAGAAGATGACGAAGACATGACACTTACAAGATGGACA

QIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITT|gVKVPRNFRLLEELEEGQKGVGDGTVSWGLEDDEDMTLTRW

LH00995:48:23YTGFLT4:3:1490:12051:21262,LH00995:48:23YTGFLT4:6:1376:20610:9632,LH00995:48:23YTGFLT4:1:2467:30973:6927,LH00995:48:23YTGFLT4:5:1154:51336:23700

SOGA3

KIAA0408

-/-

chr6:127473080

chr6:127454101

3'UTR

5'UTR/splice-site

deletion/read-through

low

Protein_SOGA_(100%)|Domain_of_unknown_function_(DUF4482)(100%)

ENSG00000214338.10

ENSG00000189367.15

ENST00000525778.5

ENST00000483725.8

upstream

downstream

duplicates(4)

CTTCAAGACAAGAAGTAAAAGAAGTATAATTTCTGTAGTAACCAATGCTATAAAAACACTGAAGACTGCTTATTTCTTTAAAAAGATACAACTCATCTTACCAAGACCAAATTCAATAAGAAGCCCAAACACTAAAATATTTCAG|GCTTTATTTTAAAGGCAAGTGAGACTGCTTCAAATAAAACAACTTCAAGCTTCCAAGAAACAGTTAAGAGGAGGCAGAGAAGAGCAGAAACACTTCTTTGCTGACACTTACACTGTTGCCATGGACCTACATAAGCAGTGGGAGAACACAGAGACTAACTGGCATAAGGAAAAGATGGAATTACTGGACCAGTTTGACAATGAAAGAAAGGAATGGGAAAGTCAATGGAAGATTATGCAGAAGAAAATAGAAGAG___CTTTGCCGGGAAGTAAAGCTTTGGAGGAAAATCAATATCAATGAAcGTGC

LH00995:48:23YTGFLT4:5:1406:1364:12280,LH00995:48:23YTGFLT4:5:1409:1388:26390,LH00995:48:23YTGFLT4:6:1473:7407:18908,LH00995:48:23YTGFLT4:4:1475:30569:24443,LH00995:48:23YTGFLT4:4:1475:30577:24457,LH00995:48:23YTGFLT4:4:1475:30609:24457,LH00995:48:23YTGFLT4:4:1475:30617:24443

PSMD10P2

PSMD10P1

+/+

chr3:186761661

chr20:50914283

exon

translocation

low

ENSG00000226652.3

ENSG00000228663.1

ENST00000626135.2

ENST00000436861.1

downstream

upstream

duplicates(1)

CACTCCTCTACACTTAGCCTGTGATGAGGAGAGAGTGGAAGAAG|CAAAACTGCTGGTGTCCCAAGGAG

LH00995:48:23YTGFLT4:2:1143:11040:13429,LH00995:48:23YTGFLT4:3:2409:5158:5904,LH00995:48:23YTGFLT4:4:1175:7690:23181,LH00995:48:23YTGFLT4:5:2468:29517:15166

HOXD11

AGAP3

+/-

chr2:176107582

chr7:151086808

CDS

translocation

204

low

ENSG00000128713.14

ENSG00000133612.19

upstream

downstream

duplicates(4),multimappers(1)

GCCGCCCCCCGCGCTGCCGCCGCCGCCGCCGCCGC|CGCCCCCCGGAGCCGCCAGGCTCTGCTGCTGCTGCGGGCTCTGCCCCCCGCC

LH00995:48:23YTGFLT4:3:1308:47121:2724,LH00995:48:23YTGFLT4:3:1308:47162:3550,LH00995:48:23YTGFLT4:3:1392:17932:8384,LH00995:48:23YTGFLT4:3:2456:25666:7235,LH00995:48:23YTGFLT4:5:1450:31426:9365,LH00995:48:23YTGFLT4:6:1184:36070:13373,LH00995:48:23YTGFLT4:6:1467:9567:11187,LH00995:48:23YTGFLT4:6:2129:3637:3242

DNAJC25

GNG10

+/+

chr9:111631743

chr9:111666815

CDS/splice-site

deletion/read-through

719

1760

low

in-frame

DnaJ_domain(87%)|GGL_domain(67%)

ENSG00000059769.20

ENSG00000242616.4

ENST00000313525.4

ENST00000374293.5

downstream

upstream

duplicates(1)

GGTGGATGCTGCTGGCGCCCCTGCTGCCGGCGCTGCTGCTGGTGCGGCCCGCGGGGGCCCTGGTGGAGGGGCTCTACTGCGGCACGCGGGACTGCTACGAGGTGCTGGGCGTGAGCCGCTCGGCGGGCAAGGCGGAGATCGCGCGGGCCTACCGCCAGCTGGCCCGGCGCTACCACCCTGACCGCTACCGGCCCCAGCCCGGAGACGAGGGCCCCGGGCGGACGCCGCAGAGCGCCGAGGAGGCTTTCCTGCTGGTGGCAACCGCCTACGAGACACTCAAG|GTCTCTCAGGCAGCTGCAGAGCTTCAACAGTACTGTATGCAGAATGCCTGCAAGGATGCCCTGCTGGTGGGTGTTCCAGCTGGAAGTAACCCCTTCCGGGAGCCTAGATCCTGTGCTTTACTCTGAAGACTCG

WMLLAPLLPALLLVRPAGALVEGLYCGTRDCYEVLGVSRSAGKAEIARAYRQLARRYHPDRYRPQPGDEGPGRTPQSAEEAFLLVATAYETLK|VSQAAAELQQYCMQNACKDALLVGVPAGSNPFREPRSCALL*

LH00995:48:23YTGFLT4:1:2298:31653:26320,LH00995:48:23YTGFLT4:4:1398:23612:2639,LH00995:48:23YTGFLT4:6:1264:4584:4125,LH00995:48:23YTGFLT4:3:2494:48618:24288

AC009097.2

TAT

-/-

chr16:71626598

chr16:71576427

exon/splice-site

5'UTR/splice-site

deletion/read-through

3920

low

|Aminotransferase_class_I_and_II(100%),Aminotransferase_ubiquitination_site(100%)

ENSG00000260593.1

ENSG00000198650.11

ENST00000562763.1

ENST00000355962.5

upstream

downstream

duplicates(2)

CGAGAACCCGGGGACGCCAGGGCCTCGCGGGCCGGCCTGGGCCACAGGTGTCCCCGGCGCGGAGGTCGCAGCGCCCCGGCCCCTCTCACCTTTCGGGTCTGCGGCGCCCGGGGTCTCCCTTCCTCTGCGGCTGCGGCGGCTCCGGGGCTTCCCAGGGCGCGGGCCCAGGAGGCGCGGCTGCGTCCCAG|GCTTCGCTAGTGATGGACCCATACATGATTCAGATGAGCAGCAAAGGCAACCTC

LH00995:48:23YTGFLT4:1:1388:37316:8749,LH00995:48:23YTGFLT4:1:2497:14381:9772,LH00995:48:23YTGFLT4:3:1238:39104:27343,LH00995:48:23YTGFLT4:3:1307:18361:28716,LH00995:48:23YTGFLT4:4:2486:47242:6549

ATP5MF

PTCD1

-/-

chr7:99460086

chr7:99435268

CDS/splice-site

5'UTR/splice-site

deletion/read-through

8926

707

low

in-frame

Mitochondrial_F1F0-ATP_synthase__subunit_f(42%)|Pentacotripeptide-repeat_region_of_PRORP(100%),Pentatricopeptide_repeat_domain(100%)

ENSG00000241468.8

ENSG00000106246.18

ENST00000292475.8

ENST00000292478.9

upstream

downstream

duplicates(3),low_entropy(1)

GTCAGTTGGTGAGTGTCCGGCCCCAG___TACCAGTGAAGGACAAGAAACTTCTGGAGGTCAAACTGGGGGAGCTGCCAAGCTGGATCTTGATGCGGGACTTCAGTCCTAGTGGCATTTTCGGAGCGTTTCAAAGAG|GCCCTGGAGGGACAGGAAAGCCAGAAATGGACTTCGTGAGACTCGCTCGACTGTTCGCCAGGGCCCGCCCCATGGGACTGTTCATCCTGCAACACCTGGACCCCTGTAGAGCCAGGTGGGCAGGAGGCAGGGAGGGGCTGATGCGGCCAATGTGGGCGCCCTTCAGCAGCTCCTCCTCTCAGCTGCCCCTCGGCCAGGAGCGTCAGGAAAACACGGGCAGCCTGGGCTCTGACCCGAGCCACTCCAACTCCACGG

SVGECPAPVPVKDKKLLEVKLGELPSWILMRDFSPSGIFGAFQR|gpggtgkpeMDFVRLARLFARARPMGLFILQHLDPCRARWAGGREGLMRPMWAPFSSSSSQLPLGQERQENTGSLGSDPSHSNST

LH00995:48:23YTGFLT4:3:1139:35601:24471,LH00995:48:23YTGFLT4:3:1483:14171:5456,LH00995:48:23YTGFLT4:4:2423:44451:8945,LH00995:48:23YTGFLT4:6:1143:12140:29543,LH00995:48:23YTGFLT4:6:1143:12148:29529,LH00995:48:23YTGFLT4:6:1143:12156:29543,LH00995:48:23YTGFLT4:6:1350:32155:23910

CREB3L2

DGKI

-/-

chr7:137884995

chr7:137690002

CDS/splice-site

deletion/read-through

5027

low

out-of-frame

bZIP_transcription_factor(100%)|Ankyrin_repeats_(3_copies)(100%),Diacylglycerol_kinase_accessory_domain(100%),Diacylglycerol_kinase_catalytic_domain(100%),Phorbol_esters/diacylglycerol_binding_domain_(C1_domain)(100%)

ENSG00000182158.15

ENSG00000157680.16

ENST00000330387.11

ENST00000614521.2

upstream

downstream

duplicates(8)

GACTCTCCTTCAGCAACTCCAGAAGCTTCAGACTTTGGTGATGGGCAAGGTTTCTCGAACCTGCAAGTTAGCTGGCACGCAGACTGGCACCTGCCTCATG___GTTGTGGTGCTGTGCTTTGCCGTTGCATTCGGCAGCTTCTTTCAAGGCTACGGGCCCTATCCTTCTGCCACCAAGATGGCTCTGCCCAGCCAGCATTCCCTGCAGGAGCCCTACACAGCCTCCGTGG|GAAAGCAATCTCCCGGGCAGGCCTCCAGCATCTGGCTCCTGCACATCCCCTCAGCCTTCCTGTGGCAAATGGTCCAGCCAAGGAGCCCAGAGCGACTTTGGACTGGAGT___GAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAG

TLLQQLQKLQTLVMGKVSRTCKLAGTQTGTCLMVVVLCFAVAFGSFFQGYGPYPSATKMALPSQHSLQEPYTASV|gkqspgqassiwllhipsaflwqmvqprsperlwtgvrmp*

LH00995:48:23YTGFLT4:3:1439:43820:25760,LH00995:48:23YTGFLT4:3:1439:43845:25774,LH00995:48:23YTGFLT4:4:1160:20020:1378,LH00995:48:23YTGFLT4:4:1160:20036:1378,LH00995:48:23YTGFLT4:4:1160:20044:1364,LH00995:48:23YTGFLT4:4:1166:21718:23910,LH00995:48:23YTGFLT4:4:2121:22511:4825,LH00995:48:23YTGFLT4:4:2121:22519:4811,LH00995:48:23YTGFLT4:5:2494:42170:6451,LH00995:48:23YTGFLT4:3:2276:1340:15657,LH00995:48:23YTGFLT4:4:1432:11015:1589

LRRTM4

-/-

chr2:77518318

chr2:77522069

CDS/splice-site

intron

duplication

low

out-of-frame

Leucine_Rich_Repeat(100%),Leucine_rich_repeat(100%)|Leucine_Rich_Repeat(100%),Leucine_rich_repeat(100%)

ENSG00000176204.14

ENST00000409884.6

upstream

downstream

TACAAACTCTGAGACCATGGATATATCGGTTAATGGATCTGGGCCCTGCACATATACCATCTCTGGCTCCAGGGAATGTGAG|AGAAGTTGGTTACCTCCGAGATGGGCTGTAGCTCTTTTGCACAGATTGCCAATTACTGCTGATGGGTCTCTGGTGAATTACACAATGGTC?TCAGAGCCTAGAGGCCCTCCCCCATCCCTATCCCCCCAACGGCTTCCTTTTCCCTGCCCCCACAACCATCC

TNSETMDISVNGSGPCTYTISGSRECE|rswlpprwavallhrlpitadgslvnytmv?ra*

LH00995:48:23YTGFLT4:3:1337:37397:21388,LH00995:48:23YTGFLT4:5:1182:46296:28955,LH00995:48:23YTGFLT4:6:2146:19275:3929

IL37

CDK8P2

+/+

chr2:112917777

chr2:112932775

CDS/splice-site

exon

deletion/read-through

low

out-of-frame

Interleukin-1_/_18(41%)|

ENSG00000125571.9

ENSG00000227368.1

ENST00000263326.7

ENST00000415020.1

downstream

upstream

TTTGCATTAGCCTCATCCTTGAGCTCAGCCTCTGCGGAGAAAGGAAGTCCGATTCTCCTGGGGGTCTCTAAAGGGGAGTTTTGTCTCTACTGTGACAAGGATAAAGGACAAAGTCATCCATCCCTTCAGCTGAAG|TCGACAAGAGGACATCAGAACTGGTAATCCTTATTACCATGACTGGCTGGACAGAATACTCAATGTAATGGGATTTCCTGCAAATAAAG

FALASSLSSASAEKGSPILLGVSKGEFCLYCDKDKGQSHPSLQLK|strghqnw*

LH00995:48:23YTGFLT4:1:2304:25982:23504,LH00995:48:23YTGFLT4:2:1162:20586:5302

FBXL8

SLC44A4

+/+

-/-

chr16:67161937

chr6:31869637

CDS/splice-site

translocation

4045

10551

low

in-frame

F-box-like(100%)|Plasma-membrane_choline_transporter(90%)

ENSG00000135722.9

ENSG00000204385.13

ENST00000517382.5

ENST00000375562.8

downstream

duplicates(2)

GGGACTGCCAGAGGAGGTGCTGGCACTCATCTTCCGCCACCTGTCCCTGAGAGACCGTGCTGCCGCCGCCAGGGTCTGCAGGGCCTGGGCCGCCGCTGCTACCTGCAGCGCCGTGTGGCACGACACAAAAATCAG|GGCTGTGGGACAGATGATGTCTACCATGTTCTACCCACTGGTCACCTTTGTCCTCCTCCTCATCTGCATTGCCTACT

GLPEEVLALIFRHLSLRDRAAAARVCRAWAAAATCSAVWHDTKIr|AVGQMMSTMFYPLVTFVLLLICIAY

LH00995:48:23YTGFLT4:2:2119:43408:3971,LH00995:48:23YTGFLT4:4:1219:37421:26082,LH00995:48:23YTGFLT4:4:2215:44128:2359,LH00995:48:23YTGFLT4:5:2325:46563:23532,LH00995:48:23YTGFLT4:6:1193:44751:12098

AC254629.1

MUC12

-/-

+/-

chr7:100964720

chr7:100971873

exon/splice-site

intron

duplication/5'-5'

3506

low

ENSG00000274993.1

ENSG00000205277.9

ENST00000618276.1

upstream

downstream

duplicates(1)

GCAGCTGTTCgCATCCTGGCTGGCGTTCTGgAGCCCCTCCTTCAGCGTGGTCTTCACCTGCTCATACTCGCTCTCCAGCTGGGGGCTGAAGGGCATCTCCAGCAGGACCAG|AGGCAATGCCACCTGCTGACTCCTGGaGCCTTCATCATCGCTGTCATCACCTCCATCACCCTCTCCTTGAATAATCTGACTACAGAGATCTGCTgGGCCAGGCCTTGGGAGCAGG

LH00995:48:23YTGFLT4:1:1386:19469:7740,LH00995:48:23YTGFLT4:1:2157:6380:26236,LH00995:48:23YTGFLT4:2:2104:25674:7614,LH00995:48:23YTGFLT4:4:1458:48909:25718

GTF2A1L

STON1-GTF2A1L

+/+

chr2:48671680

chr2:48776280

CDS/splice-site

exon/splice-site

deletion/read-through

low

Transcription_factor_IIA__alpha/beta_subunit(92%)|

ENSG00000242441.8

ENSG00000068781.21

ENST00000508440.1

ENST00000463040.5

downstream

upstream

duplicates(2),mismappers(1)

CTAGGGAATATTGACGGGGGAGATCTGAAGGTACCTGAAGAAGAAGCTGACAGTATTTCAAATGAGGATTCAGCCACAAACAGTAGTGATAATGAAGACCCTCAAGTAAACATTGTAGAAGAG___GACCCTTTAAATTCTGGAGATGATGTTAGTGAACAGGATGTGCCAGACCTGTTTGACACGGATAATGTaATTGTCTGTCAGTATGATAAG|CAGGGAGATACCAGGGTTCGTCATGGGCAGCAATGACTACGATGGACAAGAAGATAGAGGCCCT

LH00995:48:23YTGFLT4:2:1169:8135:22663,LH00995:48:23YTGFLT4:2:2118:29064:15419,LH00995:48:23YTGFLT4:3:1263:39557:19412,LH00995:48:23YTGFLT4:3:1464:2367:18417,LH00995:48:23YTGFLT4:4:2348:18288:14606

CYB5R4

SELENOI

+/+

chr6:83926331

chr2:26364302

exon/splice-site

CDS/splice-site

translocation

1329

low

CS_domain(100%),Cytochrome_b5-like_Heme/Steroid_binding_domain(100%)|CDP-alcohol_phosphatidyltransferase(100%)

ENSG00000065615.14

ENSG00000138018.18

ENST00000479164.1

ENST00000613142.4

downstream

upstream

CTTGTACCCAGCATTTCAGAAGCCATGTGGGGAAGAAGGCTGGGCCTAGCTTCTGGTATATCT|TACAGTGCTGTGGATACCAATCCACTTTCTCTGTATGTCATGCATCCATTCTGGAACACTATAGTAAAG___GTATTTCCTACTTGGCTGGCGCCCAATCTGATAACTTTTTCTGGCTTTCTGCTGGTCGTATTCAATTTTCTGCTAATGGCAT

LH00995:48:23YTGFLT4:2:1309:48723:28674,LH00995:48:23YTGFLT4:4:1338:19963:29333

FKBP15

NSMCE4A

-/-

chr9:113198855

chr10:121957259

CDS/splice-site

3'UTR/splice-site

translocation

1022

523

low

out-of-frame

FKBP-type_peptidyl-prolyl_cis-trans_isomerase(49%)|

ENSG00000119321.9

ENSG00000107672.15

ENST00000446284.6

ENST00000369023.8

upstream

downstream

duplicates(3)

TTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAG|GACTCAAATGGATAGTGAAGTCCAAAACGGAAAGCGGCATGTATtGTACATATTGTATGATTCAACATTTTTAAAGGCAGATTGTTTTTAGTAAAATGTAGCTTTTGATAGTTAATAAATTTGTCATGGTTGTCTTTGATTAAAGGAAACTCACCGCCATATTCtCAAAaAA

FDSTANKDKLLRLKLGSGKVIK|dsng*

LH00995:48:23YTGFLT4:4:1195:24016:2836,LH00995:48:23YTGFLT4:4:1195:24024:2822,LH00995:48:23YTGFLT4:4:1195:24032:2808,LH00995:48:23YTGFLT4:4:1195:24040:2794,LH00995:48:23YTGFLT4:4:1195:24048:2780

AL691447.2

ZNF782

+/+

-/-

chr9:94339020

chr9:96845016

exon/splice-site

CDS/splice-site

inversion

401

low

|KRAB_box(100%),Zinc_finger__C2H2_type(100%)

ENSG00000232063.2

ENSG00000196597.13

ENST00000454869.2

ENST00000481138.6

downstream

CGGCACACAAGTTTGAAAGAAGTCCTAGTGACTTCAAGCTCAGAACCATGGACGGCAGGGCTCCCTCTGGATGTGGAATTCTCCGTCCCTTTCCAGGGAGGGAACAAAGCCCACAAGCACCG|GCATCAGTGTCATTCCAGGACGTGACTGTGGAATTCAGCCAGGAGGAGTGGCAGCACATGGGCCCTGTTGAGAGGACCCTGTACAGAGATGTGATGCTGGAGAACTACAGCCACCTCGTCTCAGTGG___GCTACTGCTTTACAAAACCAGAACTGATCTTCACATTGGAACAAGGAGAAGATCCATGGTTATTAGAGAAAGAGAAAGGATTTCTAAGCAGGAACTCCCC

LH00995:48:23YTGFLT4:4:2190:8710:5190,LH00995:48:23YTGFLT4:6:2342:1655:13149

PRKAA1

RAB40C

-/-

+/+

chr5:40798063

chr16:625432

CDS/splice-site

translocation

3396

946

low

out-of-frame

Protein_kinase_domain(5%)|Ras_family(54%),SOCS_box(100%)

ENSG00000132356.11

ENSG00000197562.10

ENST00000397128.6

ENST00000535977.5

upstream

duplicates(1)

CAGCCGAGAAGCAGAAACACGACGGGCGGGTGAAGATCGGCCACTACATTCTGGGTGACACGCTGGGGGTCGGCACCTTCGGCAAAGTGAAGG|GGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAG___CATGCACCCGGAGTCCCCCGGATCTTGGTTGGAAACCGGCTGCACCTGGC

AEKQKHDGRVKIGHYILGDTLGVGTFGKVK|gdplgv*

LH00995:48:23YTGFLT4:6:2376:34290:14886,LH00995:48:23YTGFLT4:3:1220:48318:15082,LH00995:48:23YTGFLT4:5:1245:14834:12350

AC009133.1

ERN2

-/-

chr16:29819540

chr16:23707079

exon/splice-site

CDS/splice-site

deletion

2000

13430

low

|Protein_kinase_domain(100%),Ribonuclease_2-5A(100%)

ENSG00000238045.9

ENSG00000134398.15

ENST00000569039.5

ENST00000256797.9

upstream

downstream

GTCCAGGCGGGCCTCCCGTTTCTGGCTCCGGGCTGAGCTTCCTGGAGAAGAGGAAG|AAACTGCCATTCACCATCCCTGAGCTGGTTCATGCCTCTCCCTGCCGCAGCTCTGATGGGGTCTTCTACACAG___GCCGGAAGCAGGATGCCTGGTTTGTGGTGGACCCTGAGTCAGGGGAGACCCAGATGACACTGACCACAGAGGGTCCCTCCACCCCCCGCCTCTACATTGGCCGAACAC___AGTATACGGTCACCATG

LH00995:48:23YTGFLT4:1:2261:26354:10024,LH00995:48:23YTGFLT4:3:2318:9009:12294

ZFAND3

BTBD9

+/+

-/-

chr6:37820016

chr6:38288461

CDS/splice-site

inversion

2600

463

low

out-of-frame

A20-like_zinc_finger(31%)|F5/8_type_C_domain(49%)

ENSG00000156639.12

ENSG00000183826.18

ENST00000287218.9

ENST00000481247.6

downstream

CCCAGCCTGCCGCCTCGCTGTCCCTGCGGCTTCTGGGG|TTCCCATGGAGAATGTTGCAACAATTGCTGATTGTGCCAGTGTGATTGAAGGAGTCAGTCGGAGCCGAAATGCCTTGCTG

PSLPPRCPCGFWg|shgeccnnc*

LH00995:48:23YTGFLT4:6:1409:17447:25311

ZFAND3

BTBD9

+/+

-/-

chr6:37820016

chr6:38598121

CDS/splice-site

5'UTR/splice-site

inversion

2600

483

low

out-of-frame

A20-like_zinc_finger(31%)|BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),F5/8_type_C_domain(100%)

ENSG00000156639.12

ENSG00000183826.18

ENST00000287218.9

ENST00000481247.6

downstream

GCCGCCTCGCTGTCCCTGCGGCTTCTGGGG|AACAACGACTATCGTCTATTCCACAAGATGAGTAACAGCCACCCTCTTC

PPRCPCGFWg|tttivystr*

LH00995:48:23YTGFLT4:2:1310:49758:1911

BTBD9

ZFAND3

-/-

+/+

chr6:38577600

chr6:37929959

CDS/splice-site

inversion

683

2695

low

in-frame

BTB/POZ_domain(100%),BTB_And_C-terminal_Kelch(100%),F5/8_type_C_domain(42%)|A20-like_zinc_finger(68%),AN1-like_Zinc_finger(100%)

ENSG00000183826.18

ENSG00000156639.12

ENST00000481247.6

ENST00000287218.9

upstream

GGTCTTACTCATACTTCATTGAAGTGTCAATGGATGAACTTGATTGGGTCAGAGTGATAGATCATTCACAATATCTGTGTCGTTCTTGGCAGAAATTATATTTTCCAGCCCGTGTCTGCAG|GTCCAGCAAGACTATGAATaTCTGTTCCAAATGCTTTGCTG___ATTTTCAAAAGAAACAGCCAGACGATGATTCCGCTCCAAGTACAAGTAACAGCCAATCAGATTTGTTTTCCGAAGAGACCACCAGTGAC

SYSYFIEVSMDELDWVRVIDHSQYLCRSWQKLYFPARVCr|SSKTMNiCSKCFADFQKKQPDDDSAPSTSNSQSDLFSEETTS

LH00995:48:23YTGFLT4:6:2181:18863:20393

BTBD9

ZFAND3

-/-

+/+

chr6:38639800

chr6:38116572

5'UTR/splice-site

CDS/splice-site

inversion

303

1528

low

|AN1-like_Zinc_finger(100%)

ENSG00000183826.18

ENSG00000156639.12

ENST00000481247.6

ENST00000287218.9

upstream

GTCTCAGAGGAGCATCGCTGGG|ATTCACAGTCTGAGAATGAGGCTTCACCAGTAAAACGGCCACGACTACTTGAGAATACGGAACGGTCCGAGGAAACCAGTCGATCTAAACAGAAGAGTCGACGTCGGTGCTTCCAGTGCCAAACCAAACTGGAGCTGGTGCAGCAGGAATTGGGATCGTGTCG

LH00995:48:23YTGFLT4:3:2168:39662:28366

MLLT3

FOCAD

-/-

+/+

chr9:20382381

chr9:20933014

5'UTR/splice-site

CDS/splice-site

inversion

600

1015

low

YEATS_family(100%)|Focadhesin(100%)

ENSG00000171843.17

ENSG00000188352.12

ENST00000629733.3

ENST00000380249.5

upstream

duplicates(1)

GGCACTTCTGTTTTCCTGAGGGCTACACCGTTTTCTTTTGAAAGAG|TGATATATCTGGCCAAGAGATGAACCTTCTTCTGATGAAGTCGTTGGATGCCCTGGAAAATTGCTGCTTTGACACTAGTCTTGAATACAA___CACGGGCTGTATATTGGGAGTTGGACTTGTTCTGTCCCTCATGAGCCACAGCAGCCAAATGCAG

LH00995:48:23YTGFLT4:4:1423:5344:7656,LH00995:48:23YTGFLT4:4:1423:5352:7670

MLLT3

FOCAD

-/-

+/+

chr9:20413721

chr9:20820324

CDS/splice-site

inversion

2270

1290

low

in-frame

YEATS_family(100%)|Focadhesin(100%),Focadhesin/RST1__DUF3730(86%)

ENSG00000171843.17

ENSG00000188352.12

ENST00000380338.9

ENST00000380249.5

upstream

GTGGATCCCAATGATTCAGATGTGGAGGAGAATATATCCTCTAAATCTGAT|GTGTGTATAGGACAAATTCTACGAATAATACAACTACTTGGAACCACACCACGACTAAGAGCTGTCACTTTGCGCTTGCTGACATCTTTGTGGGAAAAGCAGG

VDPNDSDVEENISSKSD|VCIGQILRIIQLLGTTPRLRAVTLRLLTSLWEKQ

LH00995:48:23YTGFLT4:1:1484:31281:7095

MLLT3

FOCAD

-/-

+/+

chr9:20448123

chr9:20907150

CDS/splice-site

inversion

1297

1221

low

in-frame

YEATS_family(100%)|Focadhesin(100%)

ENSG00000171843.17

ENSG00000188352.12

ENST00000380338.9

ENST00000380249.5

upstream

GACTTATTCCTGCATCTTGAAGGCCATCCACCAGTGAATCACCTCCGCTGTGAAAAGCTAACTTTCAACAACCCCACAGAGGACTTTAGGAGAAAGTTGCTGAAGGCAGGAGGG|GTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCC

DLFLHLEGHPPVNHLRCEKLTFNNPTEDFRRKLLKAGG|VHIQLSEWHRAIFLPQ

LH00995:48:23YTGFLT4:6:2218:42793:10360

MLLT3

FOCAD

-/-

+/+

chr9:20620654

chr9:20912866

CDS/splice-site

inversion

2916

1542

low

out-of-frame

YEATS_family(45%)|Focadhesin(100%)

ENSG00000171843.17

ENSG00000188352.12

ENST00000380338.9

ENST00000380249.5

upstream

duplicates(1)

GCTTTCCTAGGCCAAAAAGAG|GGAAGACTAGGAGAGCTGGAGTTGCAGTTAAAACATGGAAAAGAAGAACCTGAGGAGGTGCAGTACAAAAAAAGCACAGCCTGGCTCTG___GGTTAGAGACATGCTGACTGATGAGATCACCAAGGCAGCTGCAAA___GGAGAGTCCGG

FPRPKR|gktrragvavktwkrrt*

LH00995:48:23YTGFLT4:2:1378:48771:14045,LH00995:48:23YTGFLT4:5:2103:30755:28941

MLLT3

FOCAD

-/-

+/+

chr9:20620654

chr9:20862578

CDS/splice-site

inversion

2916

1396

low

out-of-frame

YEATS_family(45%)|Focadhesin(100%),Focadhesin/RST1__DUF3730(32%)

ENSG00000171843.17

ENSG00000188352.12

ENST00000380338.9

ENST00000380249.5

upstream

GGATGGTGTTCGTACGCGGTCCGGAGCACAGTAACATACAGCACTTTGTGGAGAAAGTCGTCTTCCACTTGCACGAAAGCTTTCCTAGGCCAAAAAGAG|t|TTGTTTGCATTCGCTCCACTTGGAATGCTCTCTCTCCAAAGCTGAGTTGTGAC

MVFVRGPEHSNIQHFVEKVVFHLHESFPRPKR|v|clhslhlecslskael*

LH00995:48:23YTGFLT4:5:1247:41571:13121

MLLT3

FOCAD

-/-

+/+

chr9:20620654

chr9:20715322

CDS/splice-site

5'UTR/splice-site

inversion

2916

801

low

out-of-frame

YEATS_family(45%)|Focadhesin(100%),Focadhesin/RST1__DUF3730(100%)

ENSG00000171843.17

ENSG00000188352.12

ENST00000380338.9

ENST00000380249.5

upstream

GCTGGGGCACCGCGCCCAGGTGAGGAAAAAACCCACCGTGGAGGGCTTCACCCACGACTGGATGGTGTTCGTACGCGGTCCGGAGCACAGTAACATACAGCACTTTGTGGAGAAAGTCGTCTTCCACTTGCACGAAAGCTTTCCTAGGCCAAAAAGAG|AAGCTGCACACATACATGTAAG

LGHRAQVRKKPTVEGFTHDWMVFVRGPEHSNIQHFVEKVVFHLHESFPRPKR|eaahihv

LH00995:48:23YTGFLT4:2:2313:17916:17857

EXOC4

CHCHD3

+/+

-/-

chr7:133253187

chr7:132838469

CDS/splice-site

inversion

2374

2437

low

out-of-frame

|MICOS_complex_subunit_MIC19/MIC25(15%)

ENSG00000131558.15

ENSG00000106554.13

ENST00000253861.5

ENST00000262570.10

downstream

TGGCGGCAGAAGCAGCTGGTGGGAAATACAGAAGCACAGTCAGCAAAAGCAAAGACCCCTCGGGGCTGCTCATCTCTGTGATCAG|AGCTCAGAGTTCTACAGAGTCACCACTGAACAATATCAGAAAGCTGC

AAEAAGGKYRSTVSKSKDPSGLLISVIr|aqsstesplnnirkl

LH00995:48:23YTGFLT4:4:2356:4754:12658

CHCHD3

EXOC4

-/-

+/+

chr7:132885662

chr7:133317284

CDS/splice-site

inversion

2877

2110

low

out-of-frame

MICOS_complex_subunit_MIC19/MIC25(84%)|

ENSG00000106554.13

ENSG00000131558.15

ENST00000262570.10

ENST00000253861.5

upstream

GAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGG|CTCCCTCGTGAAAGATGCTTCTGTTCCTCTGATTGATGTTACAAA

KDRVLKKQDAFYKEQLARLEER|lprercfcssd*

LH00995:48:23YTGFLT4:1:2226:37494:24190

CHCHD3

EXOC4

-/-

+/+

chr7:133070142

chr7:133356330

CDS/splice-site

inversion

2366

1943

low

in-frame

MICOS_complex_subunit_MIC19/MIC25(23%)|

ENSG00000106554.13

ENSG00000131558.15

ENST00000262570.10

ENST00000253861.5

upstream

GGTGCTTATGGTGCCTCAG|TGAGGGAGATAAATCTGCAGGACATCAAGGAAGATTTAGAATTGGATCCAGAGGAAAACAGCACCCTGTTTATGGGTATCCTCATTAAGGGCTTG

GAYGAS|vREINLQDIKEDLELDPEENSTLFMGILIKG

LH00995:48:23YTGFLT4:1:1169:9365:28576

CHCHD3

EXOC4

-/-

+/+

chr7:133081857

chr7:133317284

CDS/splice-site

inversion

1872

2110

low

out-of-frame

MICOS_complex_subunit_MIC19/MIC25(8%)|

ENSG00000106554.13

ENSG00000131558.15

ENST00000262570.10

ENST00000253861.5

upstream

CGCCGGGTCACCTTCGAGGCGGACGAGAATGAGAACATCACCGTGGTGAAGGGCATCCGG|CTCCCTCGTGAAAGATGCTTCTGTTCCTCTGATTGATGTTACAAACCTCCCTACTCCTCGAAAATTCCTTGATACCTCTCACTATTCTACTGCTG

RRVTFEADENENITVVKGIR|lprercfcssd*

LH00995:48:23YTGFLT4:5:2295:20756:15096

AKR1C6P(41355),U8(29106)

AKR1E2

./+

+/+

chr10:4933330

chr10:4842421

intergenic

CDS/splice-site

duplication

427

low

|Aldo/keto_reductase_family(15%)

ENSG00000165568.18

ENST00000474119.5

downstream

upstream

duplicates(1)

GGAAGATGAGAGCAGCCTGAACTTACACTGTGAAAAT|ATTTTGATCCGATTTCAAATCCAGAGGAATGTGATAGTGATCCCCGGATCTATCACCCCAAGTCACATTAAAGAGAATATCCAG___GTGTTTGATTTTGAATTAACACAGCACGATATGGATAACATCCTCAGCCTAAACAGGAATCTCCGACTGGCCATGTTCCCCATGTAAATATGGCTCCTTCTTTTTAAAACAGAGGGAAGAATATACAGATTGAATGATTGGTGTCTGAATAG___GCTCTCTTTTTGCC

LH00995:48:23YTGFLT4:5:2256:25755:14003,LH00995:48:23YTGFLT4:5:2256:25763:14017

UMAD1

ICA1

+/+

-/-

chr7:7801743

chr7:8143972

CDS/splice-site

inversion

1532

2372

low

in-frame

|Islet_cell_autoantigen_ICA69__C-terminal_domain(96%)

ENSG00000219545.11

ENSG00000003147.19

ENST00000482067.3

ENST00000406470.6

downstream

duplicates(1)

GCAAGAGGCAAAACTTCGGACATAGAGGCCAACCAACCTTTGGAG|AGCTTACAAGACCCTATGAAAAAATTAGTTGAGAAAGAAGAGAAGAAGAAAATCAACCAGCAGGAAAGTACAGATGCAGCCGTGCAGGAGCCGAG

ARGKTSDIEANQPLE|SLQDPMKKLVEKEEKKKINQQESTDAAVQEP

LH00995:48:23YTGFLT4:3:1407:22447:16680,LH00995:48:23YTGFLT4:3:1407:22463:16680

205 rows