aih-tih-sc-ecc0bc-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-ecc0bc-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-ecc0bc-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/89/287c25418358bb0b4a7b68ba13f38e/aih-tih-sc-ecc0bc-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 488.1 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-ecc0bc-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

DAPK2

IGF1R

-/-

+/+

chr15:63924816

chr15:98707562

CDS/splice-site

inversion

150

858

16034

high

out-of-frame

Protein_kinase_domain(100%)|Furin-like_cysteine_rich_region(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)

ENSG00000035664.11

ENSG00000140443.15

ENST00000457488.5

ENST00000650285.1

upstream

duplicates(200),mismappers(1),mismatches(2)

GCGAGCTGGCCAAGGACTTTATTCGGAAGCTTCTGGTTAAAGAGACCCG___...GGATCATCACTGTTTCCCAATCCTCATTGCAGGAAACGGCTCACAATCCAAGAGGCTCTCAGACACCCCTGGATCACG|TCTGCGGGCCAGGCATCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACATCCTGCTCATCTCCAAGGCCGAGGACTACCGCAGCTACCGCT

gsslfpnphcRKRLTIQEALRHPWIT|sagqastsattiss*

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995:48:23YTGFLT4:8:2240:4471:18361,LH00995:48:23YTGFLT4:8:2245:31815:13989,LH00995:48:23YTGFLT4:8:2252:37890:9688,LH00995:48:23YTGFLT4:8:2254:51296:15447,LH00995:48:23YTGFLT4:8:2288:26095:17703,LH00995:48:23YTGFLT4:8:2302:11857:13779,LH00995:48:23YTGFLT4:8:2337:19753:6100,LH00995:48:23YTGFLT4:8:2346:9632:25199,LH00995:48:23YTGFLT4:8:2357:2375:7278,LH00995:48:23YTGFLT4:8:2374:37777:15265,LH00995:48:23YTGFLT4:8:2375:30253:16694,LH00995:48:23YTGFLT4:8:2385:27390:23896,LH00995:48:23YTGFLT4:8:2396:30116:26600,LH00995:48:23YTGFLT4:8:2422:21694:7698,LH00995:48:23YTGFLT4:8:2433:30626:1140,LH00995:48:23YTGFLT4:8:2433:30634:1126,LH00995:48:23YTGFLT4:8:2434:42146:7530,LH00995:48:23YTGFLT4:8:2448:15085:26404,LH00995:48:23YTGFLT4:8:2486:5676:27820,LH00995:48:23YTGFLT4:1:1184:47089:28842,LH00995:48:23YTGFLT4:1:1252:1324:20505,LH00995:48:23YTGFLT4:1:1351:50131:1967,LH00995:48:23YTGFLT4:1:1365:9260:27749,LH00995:48:23YTGFLT4:1:1437:3710:2359,LH00995:48:23YTGFLT4:1:2103:12561:15222,LH00995:48:23YTGFLT4:1:2115:17738:7292,LH00995:48:23YTGFLT4:1:2162:26362:6451,LH00995:48:23YTGFLT4:1:2169:3783:16526,LH00995:48:23YTGFLT4:1:2234:32090:20351,LH00995:48:23YTGFLT4:1:2235:42089:15335,LH00995:48:23YTGFLT4:1:2252:47873:23308,LH00995:48:23YTGFLT4:1:2256:15797:2079,LH00995:48:23YTGFLT4:1:2259:22738:19734,LH00995:48:23YTGFLT4:1:2411:48229:6773,LH00995:48:23YTGFLT4:1:2428:22414:2611,LH00995:48:23YTGFLT4:1:2485:28498:15755,LH00995:48:23YTGFLT4:2:1167:1639:18361,LH00995:48:23YTGFLT4:2:1215:49629:22004,LH00995:48:23YTGFLT4:2:1220:31111:11145,LH00995:48:23YTGFLT4:2:1369:38675:2135,LH00995:48:23YTGFLT4:2:1380:5158:14676,LH00995:48:23YTGFLT4:2:1380:5174:14676,LH00995:48:23YTGFLT4:2:1395:31200:9085,LH00995:48:23YTGFLT4:2:2180:1663:28520,LH00995:48:23YTGFLT4:2:2215:51069:4769,LH00995:48:23YTGFLT4:2:2235:22722:10458,LH00995:48:23YTGFLT4:2:2261:1316:7740,LH00995:48:23YTGFLT4:2:2277:41806:3915,LH00995:48:23YTGFLT4:2:2289:22625:9982,LH00995:48:23YTGFLT4:2:2304:29242:1883,LH00995:48:23YTGFLT4:2:2308:29347:24625,LH00995:48:23YTGFLT4:2:2387:16088:19230,LH00995:48:23YTGFLT4:2:2454:2108:12140,LH00995:48:23YTGFLT4:2:2473:13904:21360,LH00995:48:23YTGFLT4:3:1154:46789:3270,LH00995:48:23YTGFLT4:3:1228:47437:9716,LH00995:48:23YTGFLT4:3:1230:28660:6451,LH00995:48:23YTGFLT4:3:1239:41167:18782,LH00995:48:23YTGFLT4:3:1318:14171:8875,LH00995:48:23YTGFLT4:3:1338:3265:9211,LH00995:48:23YTGFLT4:3:1408:35641:4923,LH00995:48:23YTGFLT4:3:1482:5506:12308,LH00995:48:23YTGFLT4:3:1482:5514:12294,LH00995:48:23YTGFLT4:3:1486:11638:6675,LH00995:48:23YTGFLT4:3:2155:5409:29431,LH00995:48:23YTGFLT4:3:2181:51506:19258,LH00995:48:23YTGFLT4:3:2205:35601:5918,LH00995:48:23YTGFLT4:3:2239:13200:17058,LH00995:48:23YTGFLT4:3:2289:46474:17717,LH00995:48:23YTGFLT4:3:2308:37130:2009,LH00995:48:23YTGFLT4:3:2331:48585:23420,LH00995:48:23YTGFLT4:3:2341:4236:27511,LH00995:48:23YTGFLT4:3:2377:9543:29137,LH00995:48:23YTGFLT4:3:2420:49346:2653,LH00995:48:23YTGFLT4:4:1235:10045:24821,LH00995:48:23YTGFLT4:4:1258:50139:7950,LH00995:48:23YTGFLT4:4:1258:50147:7936,LH00995:48:23YTGFLT4:4:1271:44330:26755,LH00995:48:23YTGFLT4:4:1271:44338:26769,LH00995:48:23YTGFLT4:4:1271:44346:26755,LH00995:48:23YTGFLT4:4:1276:47445:15166,LH00995:48:23YTGFLT4:4:1284:5215:15082,LH00995:48:23YTGFLT4:4:1478:34929:24849,LH00995:48:23YTGFLT4:4:1484:49103:27820,LH00995:48:23YTGFLT4:4:1492:36863:8581,LH00995:48:23YTGFLT4:4:2102:5644:7165,LH00995:48:23YTGFLT4:4:2231:17520:21122,LH00995:48:23YTGFLT4:4:2240:3451:18361,LH00995:48:23YTGFLT4:4:2251:40714:25676,LH00995:48:23YTGFLT4:4:2258:47582:7726,LH00995:48:23YTGFLT4:4:2288:25852:10725,LH00995:48:23YTGFLT4:4:2344:2335:26376,LH00995:48:23YTGFLT4:4:2383:5296:28506,LH00995:48:23YTGFLT4:4:2393:47784:7095,LH00995:48:23YTGFLT4:4:2436:7771:8581,LH00995:48:23YTGFLT4:5:1112:31176:26979,LH00995:48:23YTGFLT4:5:1141:14680:19006,LH00995:48:23YTGFLT4:5:1142:30569:3985,LH00995:48:23YTGFLT4:5:1151:41054:5246,LH00995:48:23YTGFLT4:5:1205:44241:25676,LH00995:48:23YTGFLT4:5:1309:28255:11159,LH00995:48:23YTGFLT4:5:1334:13143:28002,LH00995:48:23YTGFLT4:5:1432:46498:12798,LH00995:48:23YTGFLT4:5:1496:29970:2976,LH00995:48:23YTGFLT4:5:2160:40770:25718,LH00995:48:23YTGFLT4:5:2263:44524:17563,LH00995:48:23YTGFLT4:5:2274:13839:4994,LH00995:48:23YTGFLT4:5:2308:19114:29319,LH00995:48:23YTGFLT4:5:2391:9915:15545,LH00995:48:23YTGFLT4:5:2459:41741:23756,LH00995:48:23YTGFLT4:6:1172:33894:13947,LH00995:48:23YTGFLT4:6:1211:44508:26811,LH00995:48:23YTGFLT4:6:1211:44516:26797,LH00995:48:23YTGFLT4:6:1230:31629:13331,LH00995:48:23YTGFLT4:6:1242:37785:29067,LH00995:48:23YTGFLT4:6:1252:33320:23266,LH00995:48:23YTGFLT4:6:1334:35059:25550,LH00995:48:23YTGFLT4:6:1342:17657:19426,LH00995:48:23YTGFLT4:6:1366:40835:1280,LH00995:48:23YTGFLT4:6:1381:36944:26320,LH00995:48:23YTGFLT4:6:1395:42356:25409,LH00995:48:23YTGFLT4:6:1412:24356:4797,LH00995:48:23YTGFLT4:6:1431:36742:21514,LH00995:48:23YTGFLT4:6:1453:44403:8721,LH00995:48:23YTGFLT4:6:1477:4568:17633,LH00995:48:23YTGFLT4:6:1477:4576:17647,LH00995:48:23YTGFLT4:6:1484:28619:2364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DAPK2

IGF1R

-/-

+/+

chr15:63925941

chr15:98707562

CDS/splice-site

inversion

126

1282

16034

high

out-of-frame

Protein_kinase_domain(94%)|Furin-like_cysteine_rich_region(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)

ENSG00000035664.11

ENSG00000140443.15

ENST00000457488.5

ENST00000650285.1

upstream

duplicates(226),mismatches(12)

CTTTCCTGGGAGACACGAAGCAGGAAACACTGGCAAATATCACAGCAGTGAGTTACGACTTTGATGAGGAATTCTTCAGCCAGACGAGCGAGCTGGCCAAGGACTTTATTCGGAAGCTTCTGGTTAAAGAGACCCG|TCTGCGGGCCAGGCATCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACATCCTGCTCATCTCCAAGGCCGAGGACTACCGCAGCTAC

FLGDTKQETLANITAVSYDFDEEFFSQTSELAKDFIRKLLVKETr|lrarhrhpqrlsaaeapgelhgdrglpphpahlqgrglpql

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GFLT4:5:2143:33044:11355,LH00995:48:23YTGFLT4:5:2144:33473:10697,LH00995:48:23YTGFLT4:5:2146:19057:25998,LH00995:48:23YTGFLT4:5:2163:27462:20968,LH00995:48:23YTGFLT4:5:2183:34371:2219,LH00995:48:23YTGFLT4:5:2184:21217:22313,LH00995:48:23YTGFLT4:5:2205:44565:7992,LH00995:48:23YTGFLT4:5:2236:26799:20435,LH00995:48:23YTGFLT4:5:2284:41296:14242,LH00995:48:23YTGFLT4:5:2292:24178:6983,LH00995:48:23YTGFLT4:5:2379:41846:13877,LH00995:48:23YTGFLT4:5:2379:41863:13877,LH00995:48:23YTGFLT4:5:2465:20723:16974,LH00995:48:23YTGFLT4:5:2486:48383:8413,LH00995:48:23YTGFLT4:6:1135:48982:7964,LH00995:48:23YTGFLT4:6:1189:48278:25746,LH00995:48:23YTGFLT4:6:1221:34533:10374,LH00995:48:23YTGFLT4:6:1239:20610:25185,LH00995:48:23YTGFLT4:6:1282:9931:13695,LH00995:48:23YTGFLT4:6:1369:8305:9870,LH00995:48:23YTGFLT4:6:1412:38724:12868,LH00995:48:23YTGFLT4:6:1432:36240:12238,LH00995:48:23YTGFLT4:6:1440:44104:19664,LH00995:48:23YTGFLT4:6:1440:44112:19650,LH00995:48:23YTGFLT4:6:1456:31329:27777,LH00995:48:23YTGFLT4:6:2112:16039:22257,LH00995:48:23YTGFLT4:6:2187:34954:3760,LH00995:48:23YTGFLT4:6:2410:41312:21836,LH00995:48:23YTGFLT4:7:1120:21565:17226,LH00995:48:23YTGFLT4:7:1122:12722:10122,LH00995:48:23YTGFLT4:7:1215:49386:5386,LH00995:48:23YTGFLT4:7:1325:21702:26348,LH00995:48:23YTGFLT4:7:1344:47720:1715,LH00995:48:23YTGFLT4:7:1368:2011:3873,LH00995:48:23YTGFLT4:7:1458:17698:25017,LH00995:48:23YTGFLT4:7:1469:15465:27315,LH00995:48:23YTGFLT4:7:2111:11501:5260,LH00995:48:23YTGFLT4:7:2208:3565:24443,LH00995:48:23YTGFLT4:7:2210:41604:8048,LH00995:48:23YTGFLT4:7:2213:47356:12882,LH00995:48:23YTGFLT4:7:2251:37801:16119,LH00995:48:23YTGFLT4:7:2280:45171:7894,LH00995:48:23YTGFLT4:7:2377:22997:25115,LH00995:48:23YTGFLT4:7:2388:10093:6213,LH00995:48:23YTGFLT4:7:2407:47145:29613,LH00995:48:23YTGFLT4:7:2407:48205:26208,LH00995:48:23YTGFLT4:7:2463:11185:1911,LH00995:48:23YTGFLT4:7:2491:21039:6899,LH00995:48:23YTGFLT4:8:1183:45446:19720,LH00995:48:23YTGFLT4:8:1196:51441:20015,LH00995:48:23YTGFLT4:8:1251:43254:3536,LH00995:48:23YTGFLT4:8:1347:37478:7292,LH00995:48:23YTGFLT4:8:1358:32600:14648,LH00995:48:23YTGFLT4:8:1438:40876:13457,LH00995:48:23YTGFLT4:8:1438:40892:13457,LH00995:48:23YTGFLT4:8:2104:12884:1715,LH00995:48:23YTGFLT4:8:2328:19122:17927,LH00995:48:23YTGFLT4:8:2369:2529:9533,LH00995:48:23YTGFLT4:8:2416:11347:24274,LH00995:48:23YTGFLT4:8:2424:13159:22481,LH00995:48:23YTGFLT4:8:2486:45600:4825

TRIP4

SLTM

+/+

-/-

chr15:64425631

chr15:58880107

CDS/splice-site

inversion

405

979

high

out-of-frame

ASCH_domain(93%),Putative_zinc_finger_motif__C2HC5-type(100%)|

ENSG00000103671.10

ENSG00000137776.17

ENST00000261884.8

ENST00000380516.7

downstream

duplicates(70)

CATATCGTCTTCTTCGTGGGAAAG___ATGTGGAATTTCCTAATGACTATCCGTCAGGTTGTCTTCTGGGCTGTGTGGACCTAATTGACTGCTTGTCCCAGAAGCAATTTAAGGAGCAG|TAACGCATCCCCAATTAATAGAATTGTACAAATCAGTGGCAATTCCATGCCAAGAGGAAGTGGCTCCGGATTTAAGCCATTTAAGGGTGGACCTCCGCGACGATTCTGAAAATGAGCTCTCTGC

YRLLRGKDVEFPNDYPSGCLLGCVDLIDCLSQKQFKEQ|*

LH00995:48:23YTGFLT4:1:1231:7949:19790,LH00995:48:23YTGFLT4:1:1328:46320:22719,LH00995:48:23YTGFLT4:1:1393:42259:6016,LH00995:48:23YTGFLT4:1:1393:42275:6016,LH00995:48:23YTGFLT4:1:1498:51732:18417,LH00995:48:23YTGFLT4:1:2103:26767:26152,LH00995:48:23YTGFLT4:1:2187:10805:24036,LH00995:48:23YTGFLT4:1:2220:50616:13653,LH00995:48:23YTGFLT4:1:2220:50632:13653,LH00995:48:23YTGFLT4:1:2264:11096:24933,LH00995:48:23YTGFLT4:1:2316:30884:19636,LH00995:48:23YTGFLT4:1:2316:8006:7782,LH00995:48:23YTGFLT4:1:2352:3977:6409,LH00995:48:23YTGFLT4:2:1155:46005:10486,LH00995:48:23YTGFLT4:2:1224:32171:5554,LH00995:48:23YTGFLT4:2:1320:5789:22439,LH00995:48:23YTGFLT4:2:1372:49063:14354,LH00995:48:23YTGFLT4:2:1379:22430:16596,LH00995:48:23YTGFLT4:2:2112:35682:23378,LH00995:48:23YTGFLT4:2:2188:19105:24176,LH00995:48:23YTGFLT4:2:2309:6477:23658,LH00995:48:23YTGFLT4:2:2319:32972:19945,LH00995:48:23YTGFLT4:3:1142:44306:23350,LH00995:48:23YTGFLT4:3:1155:7650:25802,LH00995:48:23YTGFLT4:3:1329:19567:16960,LH00995:48:23YTGFLT4:3:1350:30116:11972,LH00995:48:23YTGFLT4:3:1464:10004:18361,LH00995:48:23YTGFLT4:3:1464:10020:18361,LH00995:48:23YTGFLT4:3:2109:24445:5400,LH00995:48:23YTGFLT4:3:2163:5749:23490,LH00995:48:23YTGFLT4:3:2208:36022:27777,LH00995:48:23YTGFLT4:3:2344:29453:22705,LH00995:48:23YTGFLT4:3:2364:37996:9926,LH00995:48:23YTGFLT4:3:2477:23150:13415,LH00995:48:23YTGFLT4:4:1102:8629:10570,LH00995:48:23YTGFLT4:4:1134:41013:20113,LH00995:48:23YTGFLT4:4:1175:7302:7628,LH00995:48:23YTGFLT4:4:1319:27802:14690,LH00995:48:23YTGFLT4:4:1374:42704:7067,LH00995:48:23YTGFLT4:4:2139:41895:20491,LH00995:48:23YTGFLT4:4:2448:49621:29445,LH00995:48:23YTGFLT4:4:2476:31443:9926,LH00995:48:23YTGFLT4:4:2483:33562:11972,LH00995:48:23YTGFLT4:4:2489:20942:10682,LH00995:48:23YTGFLT4:5:1413:45123:6213,LH00995:48:23YTGFLT4:5:1455:5474:13261,LH00995:48:23YTGFLT4:5:2101:7796:21262,LH00995:48:23YTGFLT4:5:2181:38748:14648,LH00995:48:23YTGFLT4:5:2289:14915:3887,LH00995:48:23YTGFLT4:5:2309:16452:5876,LH00995:48:23YTGFLT4:5:2315:9850:3634,LH00995:48:23YTGFLT4:5:2344:40552:8048,LH00995:48:23YTGFLT4:5:2426:41838:24737,LH00995:48:23YTGFLT4:5:2477:3427:8370,LH00995:48:23YTGFLT4:5:2479:15060:20197,LH00995:48:23YTGFLT4:5:2491:26111:23924,LH00995:48:23YTGFLT4:6:1139:32786:21136,LH00995:48:23YTGFLT4:6:1144:33530:3480,LH00995:48:23YTGFLT4:6:1218:32778:17815,LH00995:48:23YTGFLT4:6:1348:37397:15755,LH00995:48:23YTGFLT4:6:1389:38764:20729,LH00995:48:23YTGFLT4:6:2194:43893:22159,LH00995:48:23YTGFLT4:6:2229:49977:19440,LH00995:48:23YTGFLT4:6:2231:14146:25900,LH00995:48:23YTGFLT4:6:2279:29873:12028,LH00995:48:23YTGFLT4:6:2315:42437:6409,LH00995:48:23YTGFLT4:6:2331:10449:18011,LH00995:48:23YTGFLT4:6:2381:37130:26138,LH00995:48:23YTGFLT4:6:2382:5094:28380,LH00995:48:23YTGFLT4:6:2430:30577:1280,LH00995:48:23YTGFLT4:6:2471:25990:7880,LH00995:48:23YTGFLT4:7:1139:5134:3452,LH00995:48:23YTGFLT4:7:1210:20586:25928,LH00995:48:23YTGFLT4:7:1286:46878:25451,LH00995:48:23YTGFLT4:7:1324:52113:20982,LH00995:48:23YTGFLT4:7:1419:40730:18838,LH00995:48:23YTGFLT4:7:1435:22754:14718,LH00995:48:23YTGFLT4:7:1435:22762:14732,LH00995:48:23YTGFLT4:7:1478:26273:1392,LH00995:48:23YTGFLT4:7:2295:22519:5344,LH00995:48:23YTGFLT4:7:2379:20440:8272,LH00995:48:23YTGFLT4:7:2396:35059:10108,LH00995:48:23YTGFLT4:8:1173:36879:19706,LH00995:48:23YTGFLT4:8:1334:36062:21010,LH00995:48:23YTGFLT4:8:2196:41054:25704,LH00995:48:23YTGFLT4:8:2355:44023:17226,LH00995:48:23YTGFLT4:8:2361:7585:15293,LH00995:48:23YTGFLT4:8:2435:17504:14031,LH00995:48:23YTGFLT4:1:2271:4584:25059,LH00995:48:23YTGFLT4:1:2348:33578:24190,LH00995:48:23YTGFLT4:1:2370:37931:21276,LH00995:48:23YTGFLT4:2:1214:39597:6563,LH00995:48:23YTGFLT4:2:2115:16072:22817,LH00995:48:23YTGFLT4:3:1310:16606:29599,LH00995:48:23YTGFLT4:3:2345:44338:18361,LH00995:48:23YTGFLT4:4:1294:6194:2569,LH00995:48:23YTGFLT4:4:1341:26241:20225,LH00995:48:23YTGFLT4:4:2341:23717:25830,LH00995:48:23YTGFLT4:4:2388:12836:15082,LH00995:48:23YTGFLT4:5:1229:12245:8427,LH00995:48:23YTGFLT4:5:1381:26039:16960,LH00995:48:23YTGFLT4:5:1409:39937:14158,LH00995:48:23YTGFLT4:5:2114:18313:26390,LH00995:48:23YTGFLT4:5:2361:23150:23868,LH00995:48:23YTGFLT4:5:2435:15627:7362,LH00995:48:23YTGFLT4:6:1149:45042:9688,LH00995:48:23YTGFLT4:6:1371:51449:9547,LH00995:48:23YTGFLT4:6:1387:18669:27315,LH00995:48:23YTGFLT4:6:1388:51207:18852,LH00995:48:23YTGFLT4:6:2144:22932:15923,LH00995:48:23YTGFLT4:6:2159:16217:25788,LH00995:48:23YTGFLT4:6:2316:27026:9533,LH00995:48:23YTGFLT4:6:2401:5377:2107,LH00995:48:23YTGFLT4:7:1306:28716:2261,LH00995:48:23YTGFLT4:7:1340:4123:28156,LH00995:48:23YTGFLT4:7:1340:4131:28142,LH00995:48:23YTGFLT4:7:1382:46547:9239,LH00995:48:23YTGFLT4:7:2165:7610:5834,LH00995:48:23YTGFLT4:7:2347:47291:6437,LH00995:48:23YTGFLT4:7:2484:44354:17941,LH00995:48:23YTGFLT4:8:1220:8508:7137,LH00995:48:23YTGFLT4:8:1460:4924:17044,LH00995:48:23YTGFLT4:8:1491:1663:4391,LH00995:48:23YTGFLT4:8:2135:11598:17114,LH00995:48:23YTGFLT4:8:2249:44969:16063,LH00995:48:23YTGFLT4:8:2439:5425:3088,LH00995:48:23YTGFLT4:8:2112:13669:4839

SEMA4B

MCTP2

+/+

chr15:90201735

chr15:94440176

CDS/splice-site

deletion

1714

309

high

out-of-frame

|Plant_phosphoribosyltransferase_C-terminal(100%)

ENSG00000185033.14

ENSG00000140563.15

ENST00000559322.5

ENST00000357742.9

downstream

upstream

duplicates(44)

TGGCTCGCCGCCCCATGGGGCGCGCTGCCGCCTCGGCCACCGCTGCTGCTGCTCCTGCTGCTGCTGCTCCTGCTGCAGCCGCCGCCTCCGACCTGGGCGCTCAGCCCCCGGATCAGCCTGCCTCTGG|GTATTTTTGATCACTGTCTGGAATTTTGAACTATATATGATCCCCTTGGCATTGTTGCTGATCTTTGTCTACAATTTCATCAGACCTGTGAAAGGCAAGGTCAGCAGCATCCAGGACAGCCAG

WLAAPWGALPPRPPLLLLLLLLLLLQPPPPTWALSPRISLPL|gifdhclef*

LH00995:48:23YTGFLT4:1:1264:15546:17703,LH00995:48:23YTGFLT4:1:1298:33409:28688,LH00995:48:23YTGFLT4:1:1351:51012:18768,LH00995:48:23YTGFLT4:1:2281:47291:14620,LH00995:48:23YTGFLT4:1:2349:12747:3830,LH00995:48:23YTGFLT4:2:1106:39468:13485,LH00995:48:23YTGFLT4:2:1110:37009:16792,LH00995:48:23YTGFLT4:2:1143:45277:24975,LH00995:48:23YTGFLT4:2:2261:2820:26685,LH00995:48:23YTGFLT4:2:2275:14567:26320,LH00995:48:23YTGFLT4:2:2404:16525:17352,LH00995:48:23YTGFLT4:3:1167:1696:7221,LH00995:48:23YTGFLT4:3:1194:3265:24793,LH00995:48:23YTGFLT4:3:2131:28603:7278,LH00995:48:23YTGFLT4:3:2235:40576:5288,LH00995:48:23YTGFLT4:3:2403:42704:22060,LH00995:48:23YTGFLT4:4:1141:24348:12518,LH00995:48:23YTGFLT4:4:2238:2432:1210,LH00995:48:23YTGFLT4:4:2238:2440:1224,LH00995:48:23YTGFLT4:4:2296:30181:1995,LH00995:48:23YTGFLT4:4:2342:37834:1238,LH00995:48:23YTGFLT4:5:1295:27648:4839,LH00995:48:23YTGFLT4:5:2182:19890:28814,LH00995:48:23YTGFLT4:5:2301:4527:12966,LH00995:48:23YTGFLT4:6:1470:49249:20897,LH00995:48:23YTGFLT4:6:2130:34994:16049,LH00995:48:23YTGFLT4:6:2438:15651:13009,LH00995:48:23YTGFLT4:6:2445:19033:22761,LH00995:48:23YTGFLT4:7:1211:43764:9744,LH00995:48:23YTGFLT4:7:2176:42024:18277,LH00995:48:23YTGFLT4:7:2298:4317:26166,LH00995:48:23YTGFLT4:7:2445:5013:1448,LH00995:48:23YTGFLT4:7:2472:16581:17647,LH00995:48:23YTGFLT4:8:1219:49200:23139,LH00995:48:23YTGFLT4:8:2232:45228:21640,LH00995:48:23YTGFLT4:8:2296:42882:21500,LH00995:48:23YTGFLT4:1:1170:7165:9155,LH00995:48:23YTGFLT4:1:2332:11549:8959,LH00995:48:23YTGFLT4:1:2440:11274:8342,LH00995:48:23YTGFLT4:2:2308:49742:11523,LH00995:48:23YTGFLT4:2:2403:34428:23252,LH00995:48:23YTGFLT4:3:1158:17164:13835,LH00995:48:23YTGFLT4:3:1181:27794:13471,LH00995:48:23YTGFLT4:3:1369:21662:6577,LH00995:48:23YTGFLT4:3:2120:26475:18473,LH00995:48:23YTGFLT4:3:2280:40075:27876,LH00995:48:23YTGFLT4:4:1218:35035:7039,LH00995:48:23YTGFLT4:4:1258:13855:21304,LH00995:48:23YTGFLT4:4:1258:13871:21304,LH00995:48:23YTGFLT4:4:1278:24445:5736,LH00995:48:23YTGFLT4:4:1324:34962:28632,LH00995:48:23YTGFLT4:4:2160:25586:26628,LH00995:48:23YTGFLT4:4:2332:43003:1252,LH00995:48:23YTGFLT4:4:2332:43019:1252,LH00995:48:23YTGFLT4:4:2417:25108:27932,LH00995:48:23YTGFLT4:4:2493:42364:2303,LH00995:48:23YTGFLT4:5:1217:49710:12616,LH00995:48:23YTGFLT4:5:1282:21832:20323,LH00995:48:23YTGFLT4:5:1282:21840:20337,LH00995:48:23YTGFLT4:5:1346:27802:9309,LH00995:48:23YTGFLT4:5:2213:33700:5624,LH00995:48:23YTGFLT4:5:2227:12213:12882,LH00995:48:23YTGFLT4:5:2236:21678:5176,LH00995:48:23YTGFLT4:5:2305:10117:3788,LH00995:48:23YTGFLT4:5:2355:27406:19917,LH00995:48:23YTGFLT4:5:2431:44047:3116,LH00995:48:23YTGFLT4:6:1175:11986:24457,LH00995:48:23YTGFLT4:6:1175:12002:24457,LH00995:48:23YTGFLT4:6:1175:16897:18165,LH00995:48:23YTGFLT4:6:1245:26030:5204,LH00995:48:23YTGFLT4:6:1280:11468:25213,LH00995:48:23YTGFLT4:6:1338:27139:13905,LH00995:48:23YTGFLT4:7:1334:13054:28128,LH00995:48:23YTGFLT4:7:1363:7925:10556,LH00995:48:23YTGFLT4:7:1371:5231:11888,LH00995:48:23YTGFLT4:7:1371:5239:11874,LH00995:48:23YTGFLT4:7:1415:42275:12854,LH00995:48:23YTGFLT4:7:2305:2796:27792,LH00995:48:23YTGFLT4:7:2371:6590:17997,LH00995:48:23YTGFLT4:7:2448:13612:29487,LH00995:48:23YTGFLT4:7:2466:41458:14186,LH00995:48:23YTGFLT4:8:1428:9228:23742,LH00995:48:23YTGFLT4:8:1457:51918:3774,LH00995:48:23YTGFLT4:8:2357:46118:28955

SEMA4B

MCTP2

+/+

chr15:90201735

chr15:94458137

CDS/splice-site

deletion

1714

495

high

out-of-frame

|Plant_phosphoribosyltransferase_C-terminal(84%)

ENSG00000185033.14

ENSG00000140563.15

ENST00000559322.5

ENST00000357742.9

downstream

upstream

duplicates(16)

AGGAGCTGGCTCGCCGCCCCATGGGGCGCGCTGCCGCCTCGGCCACCGCTGCTGCTGCTCCTGCTGCTGCTGCTCCTGCTGCAGCCGCCGCCTCCGACCTGGGCGCTCAGCCCCCGGATCAGCCTGCCTCTGG|GAATCTGAGAAAAAGGGGTTGATTGAAAGAATCTATATGGTACAGGATATTGTTTCAACTGTTCAAAACGTCTTGGAGGAAATAGCTTCTTTTGGAGAAAGGATTAAGAA___CACATTTA

RSWLAAPWGALPPRPPLLLLLLLLLLLQPPPPTWALSPRISLPL|gi*

LH00995:48:23YTGFLT4:1:1125:15983:3298,LH00995:48:23YTGFLT4:1:2475:7254:6030,LH00995:48:23YTGFLT4:2:1167:7788:19622,LH00995:48:23YTGFLT4:2:2344:11032:6773,LH00995:48:23YTGFLT4:2:2365:14033:15979,LH00995:48:23YTGFLT4:3:1156:8661:2976,LH00995:48:23YTGFLT4:3:1363:12504:15545,LH00995:48:23YTGFLT4:3:2211:32422:22663,LH00995:48:23YTGFLT4:4:2256:48407:7390,LH00995:48:23YTGFLT4:5:2227:31944:18305,LH00995:48:23YTGFLT4:6:1340:39767:22719,LH00995:48:23YTGFLT4:6:2371:10821:18487,LH00995:48:23YTGFLT4:7:2184:31418:12714,LH00995:48:23YTGFLT4:1:1286:21824:16385,LH00995:48:23YTGFLT4:1:1302:15732:15755,LH00995:48:23YTGFLT4:3:1259:11582:11201,LH00995:48:23YTGFLT4:3:1259:9114:2359,LH00995:48:23YTGFLT4:3:1423:22309:11285,LH00995:48:23YTGFLT4:3:1492:26160:7193,LH00995:48:23YTGFLT4:3:1492:26168:7179,LH00995:48:23YTGFLT4:3:1492:26176:7193,LH00995:48:23YTGFLT4:5:1164:3233:11874,LH00995:48:23YTGFLT4:5:2109:51943:19622,LH00995:48:23YTGFLT4:6:1289:43400:28590,LH00995:48:23YTGFLT4:6:1496:5134:5526,LH00995:48:23YTGFLT4:6:2353:30949:24737,LH00995:48:23YTGFLT4:6:2353:30957:24751,LH00995:48:23YTGFLT4:8:1279:26969:5428,LH00995:48:23YTGFLT4:8:2303:38918:1098

SEMA4B

MCTP2

+/+

chr15:90201735

chr15:94442919

CDS/splice-site

deletion

1714

463

medium

out-of-frame

|Plant_phosphoribosyltransferase_C-terminal(95%)

ENSG00000185033.14

ENSG00000140563.15

ENST00000559322.5

ENST00000357742.9

downstream

upstream

duplicates(3)

GCCGCCTCGGCCACCGCTGCTGCTGCTCCTGCTGCTGCTGCTCCTGCTGCAGCCGCCGCCTCCGACCTGGGCGCTCAGCCCCCGGATCAGCCTGCCTCTGG|GAGAGCACAGACATAGATGACGAGGAGGATGAAGATGACAAGG

PPRPPLLLLLLLLLLLQPPPPTWALSPRISLPL|gehrhr*

LH00995:48:23YTGFLT4:1:2147:5223:7109,LH00995:48:23YTGFLT4:1:2454:30003:1939,LH00995:48:23YTGFLT4:4:2471:5450:17450,LH00995:48:23YTGFLT4:1:2290:1316:13877,LH00995:48:23YTGFLT4:1:2290:1324:13891

SEMA4B

MCTP2

+/+

chr15:90185081

chr15:94458137

5'UTR/splice-site

CDS/splice-site

deletion

495

low

|Plant_phosphoribosyltransferase_C-terminal(84%)

ENSG00000185033.14

ENSG00000140563.15

ENST00000332496.10

ENST00000357742.9

downstream

upstream

GGACACTCCAGGAAGAGCGtCCCCGCGGGGGGCGATGACCGTGCGCTGACCCTGACTCACTCCAG|GAATCTGAGAAAAAGGGGTTGATTGAAAGAATCTATATGGTACAGGATATTGTTTCAACTGTTCAAAACGTCTTGGAGGAAATAGCTTCTTTTGGAGAAAGGATTAA

LH00995:48:23YTGFLT4:6:1473:7302:22145

SEMA4B

MCTP2

+/+

chr15:90201735

chr15:94470333

CDS/splice-site

deletion

1714

490

low

out-of-frame

|Plant_phosphoribosyltransferase_C-terminal(54%)

ENSG00000185033.14

ENSG00000140563.15

ENST00000559322.5

ENST00000357742.9

downstream

upstream

duplicates(4),mismatches(1)

CTGGCTCGCCGCCCCATGGGGCGCGCTGCCGCCTCGGCCACC---GCTGCTGCTCCTGCTGCTGCTGCTCCTGCTGCAGCCGCCGCCTCCGACCTGGGCGCTCAGCCCCCGGATCAGCCTGCCTCTGG|CACATTTAACTGGACGGcCC

WLAAPWGALPPRPpLLLLLLLLLLQPPPPTWALSPRISLPL|ahltgr

LH00995:48:23YTGFLT4:4:1273:10918:17815,LH00995:48:23YTGFLT4:6:1122:46870:24989,LH00995:48:23YTGFLT4:6:1160:17981:10290,LH00995:48:23YTGFLT4:7:1242:4802:8763,LH00995:48:23YTGFLT4:7:1448:30933:14284,LH00995:48:23YTGFLT4:8:2306:15643:10725

RORA

AC026523.1

-/-

chr15:61229053

chr15:97559098

CDS/splice-site

exon/splice-site

duplication

2096

high

out-of-frame

ENSG00000069667.16

ENSG00000259582.4

ENST00000335670.11

ENST00000559363.3

upstream

downstream

duplicates(46)

GGACGCGGCCGCCGGCTCCAGGGAGACCCCGCTGAACCAGGAATCCGCCCGCAAGAGCGAGCCGCCTGCCCCGGTGCGCAGACAGAGCTATTCCAGCACCAGCAGAG|CTTTATTTCCAATATATGGGTCCCATCCCATTGTAACACTAATTGAGAACTTCCCGTCTGGAGGAAAGAAGAGAATGAATGACATGCAACATTGGACCCTAAACAGAACC

DAAAGSRETPLNQESARKSEPPAPVRRQSYSSTSR|alfpiygshpivtlienfpsggkkrmndmqhwtlnr

LH00995:48:23YTGFLT4:1:1173:28174:1322,LH00995:48:23YTGFLT4:1:1316:46199:8749,LH00995:48:23YTGFLT4:1:2333:18774:14746,LH00995:48:23YTGFLT4:1:2374:2456:13695,LH00995:48:23YTGFLT4:2:1401:35730:12981,LH00995:48:23YTGFLT4:2:1469:48618:18347,LH00995:48:23YTGFLT4:2:1474:44281:7334,LH00995:48:23YTGFLT4:2:2302:6299:12504,LH00995:48:23YTGFLT4:2:2395:16864:6423,LH00995:48:23YTGFLT4:2:2432:21759:9744,LH00995:48:23YTGFLT4:2:2432:21767:9758,LH00995:48:23YTGFLT4:3:1148:37089:11187,LH00995:48:23YTGFLT4:3:1148:40423:21220,LH00995:48:23YTGFLT4:3:1217:7294:4699,LH00995:48:23YTGFLT4:3:1255:21484:28128,LH00995:48:23YTGFLT4:3:1427:33999:19202,LH00995:48:23YTGFLT4:3:2219:39080:23266,LH00995:48:23YTGFLT4:3:2327:40018:1266,LH00995:48:23YTGFLT4:4:1254:26119:3032,LH00995:48:23YTGFLT4:4:1281:27098:2233,LH00995:48:23YTGFLT4:4:1281:27098:2261,LH00995:48:23YTGFLT4:4:1281:27106:2247,LH00995:48:23YTGFLT4:4:1349:30229:18473,LH00995:48:23YTGFLT4:4:1350:6525:10262,LH00995:48:23YTGFLT4:4:1426:39508:3158,LH00995:48:23YTGFLT4:4:2364:23935:14998,LH00995:48:23YTGFLT4:5:1242:39290:15335,LH00995:48:23YTGFLT4:5:1292:44832:8034,LH00995:48:23YTGFLT4:5:1292:44840:8048,LH00995:48:23YTGFLT4:5:1292:44848:8034,LH00995:48:23YTGFLT4:5:1292:44856:8020,LH00995:48:23YTGFLT4:5:1302:14535:14718,LH00995:48:23YTGFLT4:5:1354:16055:21640,LH00995:48:23YTGFLT4:5:1381:25351:24793,LH00995:48:23YTGFLT4:5:1381:25367:24793,LH00995:48:23YTGFLT4:5:2206:22042:24499,LH00995:48:23YTGFLT4:5:2385:42210:14116,LH00995:48:23YTGFLT4:6:2291:32980:13681,LH00995:48:23YTGFLT4:7:2160:32761:1869,LH00995:48:23YTGFLT4:7:2469:23013:6899,LH00995:48:23YTGFLT4:7:2484:28749:25213,LH00995:48:23YTGFLT4:7:2485:36903:28884,LH00995:48:23YTGFLT4:8:1474:14624:23616,LH00995:48:23YTGFLT4:8:1497:31507:22032,LH00995:48:23YTGFLT4:1:2140:8338:15755,LH00995:48:23YTGFLT4:2:1315:34452:17380,LH00995:48:23YTGFLT4:2:1358:40334:21822,LH00995:48:23YTGFLT4:2:1453:35706:4587,LH00995:48:23YTGFLT4:2:2115:43149:20365,LH00995:48:23YTGFLT4:2:2126:40932:6913,LH00995:48:23YTGFLT4:2:2173:22487:8903,LH00995:48:23YTGFLT4:2:2478:9276:4825,LH00995:48:23YTGFLT4:3:1143:27001:17927,LH00995:48:23YTGFLT4:3:1143:27009:17941,LH00995:48:23YTGFLT4:3:2151:9535:23041,LH00995:48:23YTGFLT4:3:2446:43788:21472,LH00995:48:23YTGFLT4:3:2452:26750:11944,LH00995:48:23YTGFLT4:4:1209:5627:13023,LH00995:48:23YTGFLT4:4:1209:5636:13009,LH00995:48:23YTGFLT4:4:2366:12569:1729,LH00995:48:23YTGFLT4:4:2431:44977:7390,LH00995:48:23YTGFLT4:5:1184:21395:12252,LH00995:48:23YTGFLT4:5:1360:41709:6801,LH00995:48:23YTGFLT4:5:2236:11226:7670,LH00995:48:23YTGFLT4:5:2245:45908:17717,LH00995:48:23YTGFLT4:5:2253:50931:16610,LH00995:48:23YTGFLT4:5:2309:47793:28212,LH00995:48:23YTGFLT4:6:1419:45471:15783,LH00995:48:23YTGFLT4:6:1451:1963:25704,LH00995:48:23YTGFLT4:6:1484:33400:2275,LH00995:48:23YTGFLT4:6:2221:21419:23532,LH00995:48:23YTGFLT4:6:2222:25205:4111,LH00995:48:23YTGFLT4:6:2318:42380:20715,LH00995:48:23YTGFLT4:6:2323:11396:4713,LH00995:48:23YTGFLT4:7:1128:41733:5694,LH00995:48:23YTGFLT4:7:1147:36289:3634,LH00995:48:23YTGFLT4:7:2147:5619:14158,LH00995:48:23YTGFLT4:7:2447:11404:16666,LH00995:48:23YTGFLT4:8:1150:48925:24204,LH00995:48:23YTGFLT4:8:1389:50017:17100,LH00995:48:23YTGFLT4:8:2497:27050:14592

RORA

AC026523.1

-/-

chr15:61229053

chr15:97541748

CDS/splice-site

exon/splice-site

duplication

2096

high

out-of-frame

ENSG00000069667.16

ENSG00000259582.4

ENST00000335670.11

ENST00000617221.1

upstream

downstream

duplicates(11),mismatches(3)

CGCGGCCGCCGGCTCCAGGGAGACCCCGCTGAACCAGGAATCCGCCCGCAAGAGCGAGCCGCCTGCCCCGGTGCGCAGACAGAGCTATTCCAGCACCAGCAGAG|ATGCTGCTTGCCTGACAGAGGAATGGAATGACTTGCTGAAGGAGTAGCAGAAACACTGACTTGGAGGTGATGACTTGCAAGAGAGGAGAGTCATCCTCCAAGATGTCAG

AAAGSRETPLNQESARKSEPPAPVRRQSYSSTSR|daaclteewndllke*

LH00995:48:23YTGFLT4:1:2466:17965:7656,LH00995:48:23YTGFLT4:2:2137:29938:20267,LH00995:48:23YTGFLT4:3:1442:13572:28408,LH00995:48:23YTGFLT4:4:1202:9761:2808,LH00995:48:23YTGFLT4:4:1274:41539:3396,LH00995:48:23YTGFLT4:4:1438:24590:4111,LH00995:48:23YTGFLT4:5:1448:37170:5274,LH00995:48:23YTGFLT4:5:2213:4341:23826,LH00995:48:23YTGFLT4:5:2285:22714:16133,LH00995:48:23YTGFLT4:6:1245:28563:8356,LH00995:48:23YTGFLT4:6:1312:12690:13121,LH00995:48:23YTGFLT4:7:2146:1324:27511,LH00995:48:23YTGFLT4:1:1263:44435:13625,LH00995:48:23YTGFLT4:1:1326:5361:23209,LH00995:48:23YTGFLT4:2:1472:45414:8398,LH00995:48:23YTGFLT4:2:2281:43068:29081,LH00995:48:23YTGFLT4:2:2321:13483:14774,LH00995:48:23YTGFLT4:2:2360:42340:21598,LH00995:48:23YTGFLT4:3:2277:31499:11145,LH00995:48:23YTGFLT4:4:1322:30100:23238,LH00995:48:23YTGFLT4:5:1107:14429:27988,LH00995:48:23YTGFLT4:5:2262:21524:6143,LH00995:48:23YTGFLT4:5:2344:42672:18361,LH00995:48:23YTGFLT4:8:1151:49726:14634,LH00995:48:23YTGFLT4:8:1483:42833:4181,LH00995:48:23YTGFLT4:8:2135:46862:26853,LH00995:48:23YTGFLT4:8:2363:15182:7712

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

531

210

high

out-of-frame

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(53),mismappers(1)

AGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCT

RRSRHIAQTGLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1175:50211:21444,LH00995:48:23YTGFLT4:1:1175:50220:21458,LH00995:48:23YTGFLT4:1:1187:29024:29669,LH00995:48:23YTGFLT4:1:1344:3403:18950,LH00995:48:23YTGFLT4:1:1433:20060:20897,LH00995:48:23YTGFLT4:1:2207:24477:23784,LH00995:48:23YTGFLT4:1:2436:6606:18698,LH00995:48:23YTGFLT4:2:1373:30771:28884,LH00995:48:23YTGFLT4:3:1426:18256:17100,LH00995:48:23YTGFLT4:3:2320:29914:6913,LH00995:48:23YTGFLT4:3:2372:43319:9365,LH00995:48:23YTGFLT4:4:1130:13693:11860,LH00995:48:23YTGFLT4:4:1246:48715:19328,LH00995:48:23YTGFLT4:4:1414:35682:12728,LH00995:48:23YTGFLT4:5:1157:16484:12378,LH00995:48:23YTGFLT4:5:1231:24615:6199,LH00995:48:23YTGFLT4:5:1231:24631:6199,LH00995:48:23YTGFLT4:5:1389:35690:6829,LH00995:48:23YTGFLT4:5:2420:11614:2289,LH00995:48:23YTGFLT4:5:2426:20829:26236,LH00995:48:23YTGFLT4:6:1153:47825:19384,LH00995:48:23YTGFLT4:6:1171:25537:15755,LH00995:48:23YTGFLT4:6:2287:2464:28086,LH00995:48:23YTGFLT4:6:2392:17423:1617,LH00995:48:23YTGFLT4:6:2410:30933:27932,LH00995:48:23YTGFLT4:7:1227:1316:16736,LH00995:48:23YTGFLT4:7:2267:2238:2724,LH00995:48:23YTGFLT4:7:2354:6420:5932,LH00995:48:23YTGFLT4:7:2448:28110:24134,LH00995:48:23YTGFLT4:8:1110:23409:22691,LH00995:48:23YTGFLT4:8:1291:18442:6857,LH00995:48:23YTGFLT4:8:1333:1065:26418,LH00995:48:23YTGFLT4:8:1333:2950:24471,LH00995:48:23YTGFLT4:8:1333:2958:24485,LH00995:48:23YTGFLT4:8:2418:35981:9155,LH00995:48:23YTGFLT4:1:1430:47348:21108,LH00995:48:23YTGFLT4:1:2170:35552:7179,LH00995:48:23YTGFLT4:1:2223:14082:10150,LH00995:48:23YTGFLT4:1:2330:50899:11874,LH00995:48:23YTGFLT4:1:2346:39638:28352,LH00995:48:23YTGFLT4:1:2446:39152:15180,LH00995:48:23YTGFLT4:2:1212:10870:27175,LH00995:48:23YTGFLT4:2:2462:15384:7754,LH00995:48:23YTGFLT4:2:2472:28118:16217,LH00995:48:23YTGFLT4:3:1106:1291:29613,LH00995:48:23YTGFLT4:3:1106:1299:29627,LH00995:48:23YTGFLT4:3:1286:5013:15040,LH00995:48:23YTGFLT4:3:1356:20230:8833,LH00995:48:23YTGFLT4:3:2448:28223:5862,LH00995:48:23YTGFLT4:4:1235:29841:3200,LH00995:48:23YTGFLT4:4:1452:7019:10220,LH00995:48:23YTGFLT4:4:2209:24582:7263,LH00995:48:23YTGFLT4:4:2421:50187:26306,LH00995:48:23YTGFLT4:5:1389:31321:19636,LH00995:48:23YTGFLT4:5:1458:37769:12196,LH00995:48:23YTGFLT4:5:2139:17188:19903,LH00995:48:23YTGFLT4:5:2216:47032:28884,LH00995:48:23YTGFLT4:5:2216:47040:28870,LH00995:48:23YTGFLT4:5:2288:23215:16526,LH00995:48:23YTGFLT4:5:2447:5280:27777,LH00995:48:23YTGFLT4:6:1207:46903:6493,LH00995:48:23YTGFLT4:6:1239:44500:7824,LH00995:48:23YTGFLT4:6:1493:17690:25115,LH00995:48:23YTGFLT4:6:2305:12650:29305,LH00995:48:23YTGFLT4:6:2440:24898:29473,LH00995:48:23YTGFLT4:6:2486:6445:7796,LH00995:48:23YTGFLT4:7:1453:24938:5918,LH00995:48:23YTGFLT4:7:1453:41401:19020,LH00995:48:23YTGFLT4:7:2491:46514:15321,LH00995:48:23YTGFLT4:8:1347:43837:14970,LH00995:48:23YTGFLT4:8:1439:41312:8328,LH00995:48:23YTGFLT4:8:1476:21824:1392,LH00995:48:23YTGFLT4:8:2107:6097:17675,LH00995:48:23YTGFLT4:8:2139:48181:8903,LH00995:48:23YTGFLT4:8:2168:39872:29235,LH00995:48:23YTGFLT4:8:2429:29986:12112,LH00995:48:23YTGFLT4:8:2464:38279:25998,LH00995:48:23YTGFLT4:2:2132:18272:1631,LH00995:48:23YTGFLT4:5:1367:6056:17605,LH00995:48:23YTGFLT4:5:1367:6064:17619,LH00995:48:23YTGFLT4:8:1360:15433:27147,LH00995:48:23YTGFLT4:8:1360:15441:27133,LH00995:48:23YTGFLT4:8:1360:15441:27161,LH00995:48:23YTGFLT4:8:1360:15449:27147,LH00995:48:23YTGFLT4:8:1360:15457:27133

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

414

210

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

duplicates(17),low_entropy(1)

GTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCA

SEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1455:26694:14760,LH00995:48:23YTGFLT4:2:1411:12747:29389,LH00995:48:23YTGFLT4:2:1461:8038:11789,LH00995:48:23YTGFLT4:2:1461:8046:11775,LH00995:48:23YTGFLT4:2:2159:2165:10921,LH00995:48:23YTGFLT4:2:2469:49249:2822,LH00995:48:23YTGFLT4:3:1322:23514:15643,LH00995:48:23YTGFLT4:4:2144:49540:18712,LH00995:48:23YTGFLT4:5:2194:21557:12336,LH00995:48:23YTGFLT4:5:2435:17690:25872,LH00995:48:23YTGFLT4:8:1248:30909:25227,LH00995:48:23YTGFLT4:8:1345:46401:26614,LH00995:48:23YTGFLT4:1:2132:22366:7039,LH00995:48:23YTGFLT4:1:2321:16290:16750,LH00995:48:23YTGFLT4:3:1312:8556:2597,LH00995:48:23YTGFLT4:3:2461:3799:14732,LH00995:48:23YTGFLT4:4:2304:6194:20197,LH00995:48:23YTGFLT4:5:1423:9608:6213,LH00995:48:23YTGFLT4:6:1209:8936:4629,LH00995:48:23YTGFLT4:7:1163:27131:22271,LH00995:48:23YTGFLT4:7:1163:27139:22285,LH00995:48:23YTGFLT4:7:2106:11857:19328,LH00995:48:23YTGFLT4:7:2112:26945:27581,LH00995:48:23YTGFLT4:7:2340:45770:23644,LH00995:48:23YTGFLT4:8:1326:37640:16652

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

414

423

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

duplicates(2)

GACTAATGGTTGGCCTACGTTGGTGGAATCACATTGATGAAGATGGAAAGAGCCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATG

LMVGLRWWNHIDEDGKSHWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldfpgsylknmtpgrp

LH00995:48:23YTGFLT4:1:2261:4568:23125,LH00995:48:23YTGFLT4:2:2130:12188:12952,LH00995:48:23YTGFLT4:2:2497:38845:15853,LH00995:48:23YTGFLT4:3:1132:25019:14494,LH00995:48:23YTGFLT4:6:1257:9252:8987,LH00995:48:23YTGFLT4:6:2227:3095:23910

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

1918

423

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

duplicates(3)

CTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAG

LQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:3:1350:42615:19356,LH00995:48:23YTGFLT4:3:2150:26775:19104,LH00995:48:23YTGFLT4:4:1412:11024:12196,LH00995:48:23YTGFLT4:5:2482:13410:7362,LH00995:48:23YTGFLT4:2:1177:36588:5862,LH00995:48:23YTGFLT4:6:1216:8346:27147

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1918

210

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

duplicates(11),low_entropy(1)

TGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAG

GVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:48:23YTGFLT4:4:2226:34307:14550,LH00995:48:23YTGFLT4:1:1319:41361:27974,LH00995:48:23YTGFLT4:3:2265:48011:17492,LH00995:48:23YTGFLT4:3:2291:29275:14438,LH00995:48:23YTGFLT4:3:2329:17423:13835,LH00995:48:23YTGFLT4:4:1185:38076:26320,LH00995:48:23YTGFLT4:4:1185:38085:26306,LH00995:48:23YTGFLT4:4:1185:38093:26320,LH00995:48:23YTGFLT4:4:1484:49767:19468,LH00995:48:23YTGFLT4:5:1434:32462:17801,LH00995:48:23YTGFLT4:6:1104:39314:27763,LH00995:48:23YTGFLT4:6:2454:46595:23476,LH00995:48:23YTGFLT4:7:2336:37623:3116,LH00995:48:23YTGFLT4:8:1146:22665:6549,LH00995:48:23YTGFLT4:8:2246:10239:28912

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

210

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

duplicates(8),mismatches(1)

TTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCT

LH00995:48:23YTGFLT4:1:2218:25812:27217,LH00995:48:23YTGFLT4:1:2348:22495:21892,LH00995:48:23YTGFLT4:2:1143:34541:12294,LH00995:48:23YTGFLT4:2:2456:28975:10612,LH00995:48:23YTGFLT4:3:2164:50009:1224,LH00995:48:23YTGFLT4:3:2481:21500:26334,LH00995:48:23YTGFLT4:3:2481:21516:26334,LH00995:48:23YTGFLT4:4:1334:5611:12938,LH00995:48:23YTGFLT4:4:2468:44468:27021,LH00995:48:23YTGFLT4:5:2345:2294:11341,LH00995:48:23YTGFLT4:6:1430:1712:12602,LH00995:48:23YTGFLT4:7:2447:35601:23826

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15438200

3'UTR/splice-site

CDS/splice-site

deletion/read-through

423

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

duplicates(2)

ATCTTGGGCTTCCAGTCTCCAGAACT|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCC

LH00995:48:23YTGFLT4:1:2179:21193:27119,LH00995:48:23YTGFLT4:2:1170:25966:3859,LH00995:48:23YTGFLT4:4:2493:10239:28268,LH00995:48:23YTGFLT4:7:1176:51498:22271

RORA

LINC00923

-/-

chr15:61229053

chr15:97576594

CDS/splice-site

exon/splice-site

duplication

2096

high

out-of-frame

ENSG00000069667.16

ENSG00000251209.9

ENST00000335670.11

ENST00000658023.1

upstream

downstream

duplicates(35)

GCCGCCAGCGAGCCAGGCAGCAGCGGCGCGGACGCGGCCGCCGGCTCCAGGGAGACCCCGCTGAACCAGGAATCCGCCCGCAAGAGCGAGCCGCCTGCCCCGGTGCGCAGACAGAGCTATTCCAGCACCAGCAGAG|GTGATCTTCTCAACATATACCTCAGTTAACATTGTGCGGATGGCTGCCTTCTCCTCTCCTGGAAATATGCAAATTGACAACACATTTGTAGGTCTCACTGG

AASEPGSSGADAAAGSRETPLNQESARKSEPPAPVRRQSYSSTSR|gdllniyls*

LH00995:48:23YTGFLT4:1:1126:14292:4097,LH00995:48:23YTGFLT4:1:2142:25391:26124,LH00995:48:23YTGFLT4:1:2427:49572:21458,LH00995:48:23YTGFLT4:2:1219:20893:12981,LH00995:48:23YTGFLT4:2:1428:7747:8567,LH00995:48:23YTGFLT4:2:2192:38319:5162,LH00995:48:23YTGFLT4:2:2286:50414:23644,LH00995:48:23YTGFLT4:3:1279:37089:17549,LH00995:48:23YTGFLT4:3:1367:39792:2023,LH00995:48:23YTGFLT4:3:1367:39800:2009,LH00995:48:23YTGFLT4:4:1114:11549:8427,LH00995:48:23YTGFLT4:4:1313:40584:18838,LH00995:48:23YTGFLT4:4:1349:22819:27357,LH00995:48:23YTGFLT4:4:1492:35463:15377,LH00995:48:23YTGFLT4:4:2183:26807:7306,LH00995:48:23YTGFLT4:4:2360:37009:13121,LH00995:48:23YTGFLT4:5:1291:47153:11775,LH00995:48:23YTGFLT4:5:1433:45730:11215,LH00995:48:23YTGFLT4:5:2160:36515:17142,LH00995:48:23YTGFLT4:5:2237:23150:11229,LH00995:48:23YTGFLT4:5:2341:21678:5848,LH00995:48:23YTGFLT4:5:2439:14866:15265,LH00995:48:23YTGFLT4:6:1138:26718:14410,LH00995:48:23YTGFLT4:6:1458:43246:17226,LH00995:48:23YTGFLT4:6:2316:46620:4853,LH00995:48:23YTGFLT4:7:1352:6113:27231,LH00995:48:23YTGFLT4:7:2126:38805:7740,LH00995:48:23YTGFLT4:7:2126:38813:7726,LH00995:48:23YTGFLT4:7:2152:2068:14480,LH00995:48:23YTGFLT4:7:2216:16379:9674,LH00995:48:23YTGFLT4:7:2355:2861:28492,LH00995:48:23YTGFLT4:8:1177:32972:18543,LH00995:48:23YTGFLT4:8:1190:13879:27231,LH00995:48:23YTGFLT4:8:1305:12609:18978,LH00995:48:23YTGFLT4:8:1465:16557:24891,LH00995:48:23YTGFLT4:8:2219:6720:22117,LH00995:48:23YTGFLT4:8:2227:51482:5848,LH00995:48:23YTGFLT4:8:2228:11024:5554,LH00995:48:23YTGFLT4:8:2305:36483:17170,LH00995:48:23YTGFLT4:8:2341:39508:8903,LH00995:48:23YTGFLT4:8:2378:1372:2990,LH00995:48:23YTGFLT4:8:2390:52121:10374,LH00995:48:23YTGFLT4:2:1144:26945:1967,LH00995:48:23YTGFLT4:2:1415:43367:13653,LH00995:48:23YTGFLT4:2:1495:44201:3718,LH00995:48:23YTGFLT4:2:2171:3063:4321,LH00995:48:23YTGFLT4:2:2402:16864:29599,LH00995:48:23YTGFLT4:2:2419:50389:22957,LH00995:48:23YTGFLT4:2:2453:8168:3074,LH00995:48:23YTGFLT4:3:1161:51109:29137,LH00995:48:23YTGFLT4:5:1226:19122:2794,LH00995:48:23YTGFLT4:6:2193:51190:23784,LH00995:48:23YTGFLT4:6:2279:35674:15349,LH00995:48:23YTGFLT4:6:2303:31240:11986,LH00995:48:23YTGFLT4:6:2440:3354:18669,LH00995:48:23YTGFLT4:6:2446:37866:17829,LH00995:48:23YTGFLT4:7:1151:37599:13051,LH00995:48:23YTGFLT4:7:2183:15821:19216,LH00995:48:23YTGFLT4:7:2188:24518:10879,LH00995:48:23YTGFLT4:7:2188:24534:10879,LH00995:48:23YTGFLT4:8:1464:48205:15755,LH00995:48:23YTGFLT4:3:2298:38489:14872

FANCI

AC015660.1(17617),AC015660.5(20677)

+/+

./+

chr15:89285218

chr15:99452777

CDS/splice-site

intergenic

deletion

754

high

out-of-frame

FANCI_helical_domain_1(100%),FANCI_helical_domain_2(22%),FANCI_solenoid_1(100%),FANCI_solenoid_1_cap(100%),FANCI_solenoid_2(100%)|

ENSG00000140525.19

ENST00000300027.12

downstream

upstream

duplicates(13)

TCCTCTCAGTGCAGTCAGTCTCTCAGTGTCAGTCAG___GTTCATGTGGATGTTCACAGCCATTACAATTCTGTCGCCAATGAAACTTTTTGCCTTGAGATCATGGATAGTTTGAGGAGATGCTTAAGCCAGCAAGCTGATGTTCGACTCATGCTTTATGAG|GCAGCCACATTTCTCAGCTTTCCCCCAAGCTGAGACCTGGAGGGGATCCAGTTTGACCAGTGAGTTGCACGTGGCAGGGTG

SSQCSQSLSVSQVHVDVHSHYNSVANETFCLEIMDSLRRCLSQQADVRLMLYE|aatflsfpps*

LH00995:48:23YTGFLT4:1:2140:12399:7544,LH00995:48:23YTGFLT4:1:2249:44411:29613,LH00995:48:23YTGFLT4:2:1139:13709:17016,LH00995:48:23YTGFLT4:2:1195:42720:13653,LH00995:48:23YTGFLT4:2:2102:42008:5386,LH00995:48:23YTGFLT4:2:2127:44718:7249,LH00995:48:23YTGFLT4:2:2231:9640:14592,LH00995:48:23YTGFLT4:2:2382:23256:4461,LH00995:48:23YTGFLT4:3:1271:38683:15601,LH00995:48:23YTGFLT4:3:1271:38691:15615,LH00995:48:23YTGFLT4:3:1334:51368:22971,LH00995:48:23YTGFLT4:3:2146:23215:28969,LH00995:48:23YTGFLT4:3:2205:19243:4153,LH00995:48:23YTGFLT4:4:1319:20036:13373,LH00995:48:23YTGFLT4:4:1319:20044:13387,LH00995:48:23YTGFLT4:5:1208:18135:22159,LH00995:48:23YTGFLT4:5:1368:42890:4083,LH00995:48:23YTGFLT4:5:2194:17625:29655,LH00995:48:23YTGFLT4:6:2112:44548:13541,LH00995:48:23YTGFLT4:7:1197:36806:2625,LH00995:48:23YTGFLT4:7:1497:14162:15559,LH00995:48:23YTGFLT4:7:2111:32114:1336,LH00995:48:23YTGFLT4:8:2126:48480:16932,LH00995:48:23YTGFLT4:8:2225:35787:2037,LH00995:48:23YTGFLT4:8:2440:8758:14914,LH00995:48:23YTGFLT4:1:1111:35285:27231,LH00995:48:23YTGFLT4:1:1111:35302:27231,LH00995:48:23YTGFLT4:3:2498:17067:14256,LH00995:48:23YTGFLT4:5:1335:41272:25493,LH00995:48:23YTGFLT4:8:1192:16484:11173,LH00995:48:23YTGFLT4:8:2403:2812:19356

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

196

523

high

in-frame

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

ENSG00000250120.8

ENSG00000248383.5

ENST00000562220.2

ENST00000253807.3

downstream

upstream

duplicates(66),mismappers(2)

AGGGTGTGTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCC

RVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

LH00995:48:23YTGFLT4:1:1159:8669:4475,LH00995:48:23YTGFLT4:1:1207:36556:28646,LH00995:48:23YTGFLT4:1:2164:5263:12224,LH00995:48:23YTGFLT4:1:2310:48812:23868,LH00995:48:23YTGFLT4:2:1152:25990:5890,LH00995:48:23YTGFLT4:2:1322:2181:23896,LH00995:48:23YTGFLT4:2:1432:46700:3340,LH00995:48:23YTGFLT4:2:1443:19931:15349,LH00995:48:23YTGFLT4:2:2315:27163:8623,LH00995:48:23YTGFLT4:2:2315:27171:8637,LH00995:48:23YTGFLT4:3:1242:1437:14172,LH00995:48:23YTGFLT4:3:1242:1445:14186,LH00995:48:23YTGFLT4:3:1359:17714:23252,LH00995:48:23YTGFLT4:3:1443:45997:27175,LH00995:48:23YTGFLT4:3:1478:25367:23392,LH00995:48:23YTGFLT4:3:2152:48513:16091,LH00995:48:23YTGFLT4:3:2187:46692:18936,LH00995:48:23YTGFLT4:3:2235:34873:22397,LH00995:48:23YTGFLT4:4:1485:45883:9323,LH00995:48:23YTGFLT4:4:2265:4891:25003,LH00995:48:23YTGFLT4:4:2352:9608:28744,LH00995:48:23YTGFLT4:5:1106:2149:9491,LH00995:48:23YTGFLT4:5:1174:50842:9141,LH00995:48:23YTGFLT4:5:1189:7068:25606,LH00995:48:23YTGFLT4:5:1348:47218:6002,LH00995:48:23YTGFLT4:5:1348:47226:5988,LH00995:48:23YTGFLT4:5:1348:47234:6002,LH00995:48:23YTGFLT4:5:2271:15093:2822,LH00995:48:23YTGFLT4:5:2286:30383:25185,LH00995:48:23YTGFLT4:5:2292:40868:18796,LH00995:48:23YTGFLT4:5:2303:37809:23083,LH00995:48:23YTGFLT4:6:1168:41798:25956,LH00995:48:23YTGFLT4:6:1361:44427:5372,LH00995:48:23YTGFLT4:6:2108:45705:10360,LH00995:48:23YTGFLT4:6:2261:10465:22607,LH00995:48:23YTGFLT4:6:2448:11339:14676,LH00995:48:23YTGFLT4:7:2214:29889:7684,LH00995:48:23YTGFLT4:7:2271:39856:23266,LH00995:48:23YTGFLT4:7:2356:36475:3116,LH00995:48:23YTGFLT4:7:2408:6275:20645,LH00995:48:23YTGFLT4:8:1309:41466:3718,LH00995:48:23YTGFLT4:8:2116:19858:2219,LH00995:48:23YTGFLT4:8:2186:13426:11846,LH00995:48:23YTGFLT4:8:2449:36863:21948,LH00995:48:23YTGFLT4:8:2477:20092:24961,LH00995:48:23YTGFLT4:1:2187:35617:23910,LH00995:48:23YTGFLT4:1:2324:18143:20099,LH00995:48:23YTGFLT4:1:2429:7035:21206,LH00995:48:23YTGFLT4:1:2468:17512:26180,LH00995:48:23YTGFLT4:2:1103:10805:1280,LH00995:48:23YTGFLT4:2:1113:51619:23994,LH00995:48:23YTGFLT4:2:1173:41434:5512,LH00995:48:23YTGFLT4:2:1293:6396:8020,LH00995:48:23YTGFLT4:2:1381:34226:1154,LH00995:48:23YTGFLT4:2:2213:1405:7894,LH00995:48:23YTGFLT4:2:2288:42615:18543,LH00995:48:23YTGFLT4:3:1202:18466:7404,LH00995:48:23YTGFLT4:3:1398:4325:9590,LH00995:48:23YTGFLT4:3:1410:15821:4671,LH00995:48:23YTGFLT4:3:2205:4454:25311,LH00995:48:23YTGFLT4:3:2230:22900:23125,LH00995:48:23YTGFLT4:3:2258:23272:15279,LH00995:48:23YTGFLT4:3:2306:31443:18782,LH00995:48:23YTGFLT4:4:1272:41612:18908,LH00995:48:23YTGFLT4:4:1431:49136:25073,LH00995:48:23YTGFLT4:4:2110:47817:14550,LH00995:48:23YTGFLT4:4:2190:23126:29179,LH00995:48:23YTGFLT4:4:2235:51077:27147,LH00995:48:23YTGFLT4:4:2308:15238:9435,LH00995:48:23YTGFLT4:5:1371:21128:7165,LH00995:48:23YTGFLT4:6:2139:19575:29613,LH00995:48:23YTGFLT4:6:2150:23636:20365,LH00995:48:23YTGFLT4:6:2203:14607:2205,LH00995:48:23YTGFLT4:6:2423:20821:23139,LH00995:48:23YTGFLT4:7:1151:25610:5400,LH00995:48:23YTGFLT4:7:1455:2853:25451,LH00995:48:23YTGFLT4:7:2141:44322:12728,LH00995:48:23YTGFLT4:7:2150:2238:10262,LH00995:48:23YTGFLT4:7:2364:43610:26012,LH00995:48:23YTGFLT4:8:2136:24655:11061,LH00995:48:23YTGFLT4:8:2224:42356:12042,LH00995:48:23YTGFLT4:8:2348:1607:7432,LH00995:48:23YTGFLT4:8:2395:1704:13149

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

196

523

high

in-frame

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

ENSG00000250120.8

ENSG00000243232.6

ENST00000562220.2

ENST00000289269.7

downstream

upstream

duplicates(66),mismappers(2)

RVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

196

523

high

in-frame

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

ENSG00000250120.8

ENSG00000239389.8

ENST00000562220.2

ENST00000289272.3

downstream

upstream

duplicates(66),mismappers(2)

RVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

MOCOS

KIAA1328

+/+

chr18:36260175

chr18:36946249

CDS/splice-site

5'UTR/splice-site

deletion

high

out-of-frame

Aminotransferase_class-V(100%),MOSC_N-terminal_beta_barrel_domain(100%),MOSC_domain(54%)|Uncharacterised_protein_KIAA1328(81%)

ENSG00000075643.6

ENSG00000150477.15

ENST00000261326.6

ENST00000586135.1

downstream

upstream

duplicates(5),mismappers(1)

AGGAATTATTCTCACTGAAGGATCTCAGCTTGCGTTTTCGTGCCAATATTATTATCAATGGAAAAAGGGCTTTTGAAGAAGAGAAATGGGATGAGATTTCAATTGGCTCTTTGCGTTTCCAG|TTGACCAAAACAGATAAAATAAACACAGAAAGACATACCAAGAATGACTTAAAGGGAGGAAGCAAAGGAGTCCAATAATGTATT

ELFSLKDLSLRFRANIIINGKRAFEEEKWDEISIGSLRFQ|ltktdkinterhtkndlkggskgvq*

LH00995:48:23YTGFLT4:1:1433:31831:10010,LH00995:48:23YTGFLT4:2:1435:6679:4699,LH00995:48:23YTGFLT4:2:1462:33619:5540,LH00995:48:23YTGFLT4:2:2297:33934:28955,LH00995:48:23YTGFLT4:2:2461:15554:29039,LH00995:48:23YTGFLT4:3:1256:20068:17857,LH00995:48:23YTGFLT4:3:2119:40989:14073,LH00995:48:23YTGFLT4:4:1285:19259:11131,LH00995:48:23YTGFLT4:5:1304:36022:24274,LH00995:48:23YTGFLT4:5:2432:8702:16526,LH00995:48:23YTGFLT4:6:1334:26014:11902,LH00995:48:23YTGFLT4:6:1412:26403:19412,LH00995:48:23YTGFLT4:6:2271:38441:19804,LH00995:48:23YTGFLT4:8:1410:4349:3915,LH00995:48:23YTGFLT4:8:2153:28077:26488,LH00995:48:23YTGFLT4:8:2358:48415:25479

DTNBP1

LARP4B

-/-

-/+

chr6:15651313

chr10:825282

CDS/splice-site

CDS

translocation/5'-5'

426

455

high

out-of-frame

ENSG00000047579.20

ENSG00000107929.15

ENST00000344537.10

upstream

duplicates(10),mismatches(1)

AGGATTTCACCTCCGG___GCTGAAGACTTTAAGTGACAAGTCAAGAGAAGCAAAAGTGAAAAGCAAACCCAG___GACTGTTCCATTTTTGCCAAAGTACTCTGCTGGATTAGAATTACTTAGCAG|GAATCGCATGCCGCAGATGAGATTTACTAGGATTCCTG

DFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSr|nrmpqmrftrip

LH00995:48:23YTGFLT4:1:1421:49224:10907,LH00995:48:23YTGFLT4:1:2151:40625:3158,LH00995:48:23YTGFLT4:1:2244:36329:27777,LH00995:48:23YTGFLT4:1:2250:16128:1308,LH00995:48:23YTGFLT4:2:1334:3702:22831,LH00995:48:23YTGFLT4:3:2323:51077:1981,LH00995:48:23YTGFLT4:3:2493:19963:20673,LH00995:48:23YTGFLT4:4:1322:21274:10416,LH00995:48:23YTGFLT4:4:2368:16185:12112,LH00995:48:23YTGFLT4:5:1306:44112:21444,LH00995:48:23YTGFLT4:5:1306:44120:21458,LH00995:48:23YTGFLT4:5:2152:6687:10262,LH00995:48:23YTGFLT4:6:1411:33918:15503,LH00995:48:23YTGFLT4:6:1492:7367:7740,LH00995:48:23YTGFLT4:6:1492:7375:7754,LH00995:48:23YTGFLT4:6:2137:36531:5232,LH00995:48:23YTGFLT4:6:2153:37640:24499,LH00995:48:23YTGFLT4:6:2283:45050:19230,LH00995:48:23YTGFLT4:8:2193:37526:17324,LH00995:48:23YTGFLT4:8:2414:13580:25311

LARP4B

DTNBP1

-/+

-/-

chr10:825874

chr6:15637805

intron

translocation/3'-3'

568

658

high

|Dysbindin_(Dystrobrevin_binding_protein_1)(100%)

ENSG00000107929.15

ENSG00000047579.20

ENST00000622898.4

downstream

duplicates(6),mismatches(2)

GTCAGAGGAGACGCCGCAGGCTTGAACGCTGGAGACGTAAACCCATTTATAAATCCAGTATTTGGAAATGGAGTTACCaAG|GGTATGAGGATACATGGGCTGCACTTCACAGAAGAGCCAAAGACTGTGCAAGTGCTGGAGAG___CTGGTGGATAGCGAGGTGGTCATGCTTTCTGCGCACTGGGAGAAGAAAAAGACAAGCCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGCTCCCAGCTTTAATCGCAGA

LH00995:48:23YTGFLT4:1:2237:35876:8244,LH00995:48:23YTGFLT4:1:2397:10854:5008,LH00995:48:23YTGFLT4:2:2343:15764:1070,LH00995:48:23YTGFLT4:3:2343:10773:4587,LH00995:48:23YTGFLT4:5:2267:5959:16231,LH00995:48:23YTGFLT4:6:1447:47655:15335,LH00995:48:23YTGFLT4:6:2112:32575:1266,LH00995:48:23YTGFLT4:7:1253:20966:2065,LH00995:48:23YTGFLT4:7:1440:21379:18137,LH00995:48:23YTGFLT4:8:2116:28530:24779,LH00995:48:23YTGFLT4:8:2360:11428:11832,LH00995:48:23YTGFLT4:4:1454:21994:1070,LH00995:48:23YTGFLT4:4:1454:22010:1070

RORA

LINC02254

-/-

chr15:61229053

chr15:97427952

CDS/splice-site

exon/splice-site

duplication

2096

high

out-of-frame

ENSG00000069667.16

ENSG00000259664.3

ENST00000335670.11

ENST00000653998.1

upstream

downstream

duplicates(12),mismappers(1)

CGAGCCAGGCAGCAGCGGCGCGGACGCGGCCGCCGGCTCCAGGGAGACCCCGCTGAACCAGGAATCCGCCCGCAAGAGCGAGCCGCCTGCCCCGGTGCGCAGACAGAGCTATTCCAGCACCAGCAGAG|GTGATTTAAACAGAAGAGAGGACCACCCCGCCAACCAAATGTCCAGGTCCTATTCCATGGAACCTATGAACAGGTTGTCCCACATTGCAAAAGGGACTTCA

EPGSSGADAAAGSRETPLNQESARKSEPPAPVRRQSYSSTSR|gdlnrredhpanqmsrsysmepmnrlshiakgt

LH00995:48:23YTGFLT4:1:1368:5207:19776,LH00995:48:23YTGFLT4:1:1407:50770:13891,LH00995:48:23YTGFLT4:2:1176:40350:1448,LH00995:48:23YTGFLT4:2:1371:32171:16147,LH00995:48:23YTGFLT4:2:2113:11873:16946,LH00995:48:23YTGFLT4:3:1446:26192:26530,LH00995:48:23YTGFLT4:3:2218:11744:10360,LH00995:48:23YTGFLT4:4:1263:33489:19748,LH00995:48:23YTGFLT4:4:2290:32778:11481,LH00995:48:23YTGFLT4:4:2422:3079:1687,LH00995:48:23YTGFLT4:4:2495:39929:20169,LH00995:48:23YTGFLT4:5:1126:16428:26544,LH00995:48:23YTGFLT4:5:1314:50624:22803,LH00995:48:23YTGFLT4:5:1314:50632:22817,LH00995:48:23YTGFLT4:5:2106:9462:13919,LH00995:48:23YTGFLT4:6:2274:32308:23728,LH00995:48:23YTGFLT4:7:1419:38699:18123,LH00995:48:23YTGFLT4:8:1119:13507:3550,LH00995:48:23YTGFLT4:8:1145:10465:24821,LH00995:48:23YTGFLT4:1:1172:49896:13947,LH00995:48:23YTGFLT4:1:1202:44840:26292,LH00995:48:23YTGFLT4:2:2108:46417:20309,LH00995:48:23YTGFLT4:2:2108:46433:20309

RORA

LINC02254

-/-

chr15:61229053

chr15:97515424

CDS/splice-site

exon/splice-site

duplication

2096

medium

out-of-frame

ENSG00000069667.16

ENSG00000259664.3

ENST00000335670.11

ENST00000653998.1

upstream

downstream

duplicates(10)

GCGAGCCAGGCAGCAGCGGCGCGGACGCGGCCGCCGGCTCCAGGGAGACCCCGCTGAACCAGGAATCCGCCCGCAAGAGCGAGCCGCCTGCCCCGGTGCGCAGACAGAGCTATTCCAGCACCAGCAGAG|GGGACAAAAATGAAGGTTATTGAAAAGAATCATGCTTGGTGGAAGAAGTAATTACATTTTTTTTTCAAATCTCAGAGGAATAATGCTTTTATATTTCCT

EPGSSGADAAAGSRETPLNQESARKSEPPAPVRRQSYSSTSR|gdknegy*

LH00995:48:23YTGFLT4:1:1415:44419:3760,LH00995:48:23YTGFLT4:1:1486:45859:2808,LH00995:48:23YTGFLT4:1:2420:33020:25774,LH00995:48:23YTGFLT4:2:1152:21751:23041,LH00995:48:23YTGFLT4:2:1227:22835:12812,LH00995:48:23YTGFLT4:2:1227:22843:12798,LH00995:48:23YTGFLT4:3:1465:46417:28212,LH00995:48:23YTGFLT4:3:2482:3314:3634,LH00995:48:23YTGFLT4:4:2103:31475:25423,LH00995:48:23YTGFLT4:4:2369:18248:4727,LH00995:48:23YTGFLT4:5:1101:25019:9253,LH00995:48:23YTGFLT4:5:2191:29501:23994,LH00995:48:23YTGFLT4:5:2492:1866:3508,LH00995:48:23YTGFLT4:6:1258:43052:23756,LH00995:48:23YTGFLT4:6:2237:30795:24723,LH00995:48:23YTGFLT4:7:2441:40835:3046,LH00995:48:23YTGFLT4:8:1195:43270:22985,LH00995:48:23YTGFLT4:8:1248:41677:17619,LH00995:48:23YTGFLT4:5:1206:27826:20954,LH00995:48:23YTGFLT4:6:2136:23571:17787

RORA

LINC02254

-/-

chr15:61229053

chr15:97522342

CDS/splice-site

exon/splice-site

duplication

2096

low

out-of-frame

ENSG00000069667.16

ENSG00000259664.3

ENST00000335670.11

ENST00000658901.1

upstream

downstream

duplicates(2)

GGAATCCGCCCGCAAGAGCGAGCCGCCTGCCCCGGTGCGCAGACAGAGCTATTCCAGCACCAGCAGAG|GGTTTCTGTTGGTGATTGGCGAG

ESARKSEPPAPVRRQSYSSTSR|gfllvig

LH00995:48:23YTGFLT4:3:1232:19089:10024,LH00995:48:23YTGFLT4:6:2231:24145:4153,LH00995:48:23YTGFLT4:6:2289:38384:20547

MIR1179(645),MIR7-2(2983)

FANCI

./+

+/+

chr15:88608842

chr15:89247629

intergenic

5'UTR/splice-site

deletion

883

high

|FANCI_helical_domain_1(100%),FANCI_helical_domain_2(100%),FANCI_solenoid_1(100%),FANCI_solenoid_1_cap(100%),FANCI_solenoid_2(100%),FANCI_solenoid_3(100%),FANCI_solenoid_4(100%)

ENSG00000140525.19

ENST00000300027.12

downstream

upstream

duplicates(12)

GCGACTCCGGAGCCCAGCAG___AGCTGCGCTTTTGGCCTGAATTTTCAGTGACAAATAGAAAAGCTGAATGGATGGAGACAATGACTCTTTAATTCAATGTAAGAGCTGACTCATCGCTTCCCAGGAAGACTTGTTGCAG|TTCTGTGATATGAGCAACAATGGACCAGAAGATTTTATCTCTAGCAGCAGAAAAAACAGCAGACAAACTGCAAGAATTTCTTCAAACCCTGAGAGAAGGTGAT___TTGACTAATCTCCTTCAGAATCAAGCAGTGAAAGGAAAAGTTGCTGGAGCACTCCTGAGAGCCATCTTCAAAG___GTTCCCCCTGCTCTGAGGAAGCTGGAACACTTAGGAGACGTAAGAgATACACTTGTTGTATCC

LH00995:48:23YTGFLT4:7:1274:3378:2822,LH00995:48:23YTGFLT4:1:2260:25319:13219,LH00995:48:23YTGFLT4:2:1488:34137:25241,LH00995:48:23YTGFLT4:4:1421:28004:2401,LH00995:48:23YTGFLT4:5:1138:22471:15152,LH00995:48:23YTGFLT4:5:1384:21686:18557,LH00995:48:23YTGFLT4:5:1437:3281:23252,LH00995:48:23YTGFLT4:5:1478:42299:18782,LH00995:48:23YTGFLT4:5:1478:42308:18796,LH00995:48:23YTGFLT4:5:2355:40398:10865,LH00995:48:23YTGFLT4:6:1134:49362:14648,LH00995:48:23YTGFLT4:6:1261:37955:13247,LH00995:48:23YTGFLT4:6:2144:28894:3550,LH00995:48:23YTGFLT4:7:1311:14195:26124,LH00995:48:23YTGFLT4:7:1411:7116:5876,LH00995:48:23YTGFLT4:7:1411:7124:5862

TLK2

BET1L

+/+

-/-

chr17:62560126

chr11:169052

CDS/splice-site

translocation

1219

1817

high

ENSG00000146872.18

ENSG00000177951.17

ENST00000578697.1

ENST00000410108.5

downstream

duplicates(25),mismatches(6),multimappers(6)

AGACAGACCCAG___GCCAACTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGA

LH00995:48:23YTGFLT4:1:1168:17536:16161,LH00995:48:23YTGFLT4:1:1274:11323:26138,LH00995:48:23YTGFLT4:1:2173:42542:25199,LH00995:48:23YTGFLT4:2:1136:23741:12308,LH00995:48:23YTGFLT4:2:1421:12108:1939,LH00995:48:23YTGFLT4:2:1421:12116:1925,LH00995:48:23YTGFLT4:2:2114:7464:24050,LH00995:48:23YTGFLT4:2:2145:48949:16343,LH00995:48:23YTGFLT4:2:2191:42494:3592,LH00995:48:23YTGFLT4:2:2252:44953:11243,LH00995:48:23YTGFLT4:2:2409:5126:29529,LH00995:48:23YTGFLT4:3:1124:21816:2107,LH00995:48:23YTGFLT4:3:1248:3840:15615,LH00995:48:23YTGFLT4:3:2281:25763:2247,LH00995:48:23YTGFLT4:3:2315:5255:13947,LH00995:48:23YTGFLT4:3:2372:21880:6423,LH00995:48:23YTGFLT4:3:2410:22487:7782,LH00995:48:23YTGFLT4:4:1355:12002:21402,LH00995:48:23YTGFLT4:4:2114:21452:27904,LH00995:48:23YTGFLT4:4:2114:21468:27904,LH00995:48:23YTGFLT4:4:2181:21460:16147,LH00995:48:23YTGFLT4:4:2369:19494:7446,LH00995:48:23YTGFLT4:4:2372:20481:7754,LH00995:48:23YTGFLT4:5:1276:47825:21094,LH00995:48:23YTGFLT4:5:1276:47833:21108,LH00995:48:23YTGFLT4:5:2273:38942:20085,LH00995:48:23YTGFLT4:5:2488:50867:19580,LH00995:48:23YTGFLT4:6:1387:12844:15629,LH00995:48:23YTGFLT4:7:1238:9503:13009,LH00995:48:23YTGFLT4:7:2348:17698:26979,LH00995:48:23YTGFLT4:8:1256:37599:8847,LH00995:48:23YTGFLT4:8:1454:40851:14536,LH00995:48:23YTGFLT4:2:1325:5223:20982,LH00995:48:23YTGFLT4:2:1325:5231:20996,LH00995:48:23YTGFLT4:2:2226:43254:3564,LH00995:48:23YTGFLT4:4:1201:35407:18557,LH00995:48:23YTGFLT4:5:1483:38004:24513,LH00995:48:23YTGFLT4:5:1483:38012:24499,LH00995:48:23YTGFLT4:5:1483:38028:24499,LH00995:48:23YTGFLT4:7:1243:19186:13611

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

166

1782

1560

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(278),mismappers(65)

GTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGA

SHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQ

LH00995:48:23YTGFLT4:1:1105:50487:7460,LH00995:48:23YTGFLT4:1:1116:46433:7810,LH00995:48:23YTGFLT4:1:1124:26079:12826,LH00995:48:23YTGFLT4:1:1124:8718:23616,LH00995:48:23YTGFLT4:1:1174:16298:11775,LH00995:48:23YTGFLT4:1:1196:46094:26446,LH00995:48:23YTGFLT4:1:1204:27786:25003,LH00995:48:23YTGFLT4:1:1205:40325:11355,LH00995:48:23YTGFLT4:1:1237:41628:1252,LH00995:48:23YTGFLT4:1:1249:15975:21024,LH00995:48:23YTGFLT4:1:1258:50422:14326,LH00995:48:23YTGFLT4:1:1268:22827:19720,LH00995:48:23YTGFLT4:1:1268:51174:16498,LH00995:48:23YTGFLT4:1:1287:48739:14186,LH00995:48:23YTGFLT4:1:1296:29784:28436,LH00995:48:23YTGFLT4:1:1304:15691:17086,LH00995:48:23YTGFLT4:1:1306:11396:11832,LH00995:48:23YTGFLT4:1:1315:43820:23238,LH00995:48:23YTGFLT4:1:1322:35277:25928,LH00995:48:23YTGFLT4:1:1322:35285:25914,LH00995:48:23YTGFLT4:1:1322:35294:25928,LH00995:48:23YTGFLT4:1:1343:39638:18936,LH00995:48:23YTGFLT4:1:1344:14510:17899,LH00995:48:23YTGFLT4:1:1345:10498:13751,LH00995:48:23YTGFLT4:1:1345:10506:13765,LH00995:48:23YTGFLT4:1:1347:42890:20057,LH00995:48:23YTGFLT4:1:1348:15028:7081,LH00995:48:23YTGFLT4:1:1376:1599:3354,LH00995:48:23YTGFLT4:1:1409:38999:10542,LH00995:48:23YTGFLT4:1:1418:29849:14760,LH00995:48:23YTGFLT4:1:1428:26831:23882,LH00995:48:23YTGFLT4:1:1432:15319:22635,LH00995:48:23YTGFLT4:1:1435:28239:20463,LH00995:48:23YTGFLT4:1:1451:38182:20001,LH00995:48:23YTGFLT4:1:1475:13515:20603,LH00995:48:23YTGFLT4:1:1486:31977:3116,LH00995:48:23YTGFLT4:1:2142:24089:16133,LH00995:48:23YTGFLT4:1:2154:40981:22299,LH00995:48:23YTGFLT4:1:2160:37397:18137,LH00995:48:23YTGFLT4:1:2169:28894:23728,LH00995:48:23YTGFLT4:1:2176:32397:19258,LH00995:48:23YTGFLT4:1:2178:29954:22060,LH00995:48:23YTGFLT4:1:2218:49799:1673,LH00995:48:23YTGFLT4:1:2219:38165:1224,LH00995:48:23YTGFLT4:1:2221:10069:20883,LH00995:48:23YTGFLT4:1:2236:11129:17058,LH00995:48:23YTGFLT4:1:2246:20432:12995,LH00995:48:23YTGFLT4:1:2260:4851:5988,LH00995:48:23YTGFLT4:1:2267:13208:27217,LH00995:48:23YTGFLT4:1:2272:3718:17450,LH00995:48:23YTGFLT4:1:2280:20707:12798,LH00995:48:23YTGFLT4:1:2284:24914:1532,LH00995:48:23YTGFLT4:1:2303:2116:19720,LH00995:48:23YTGFLT4:1:2328:44702:26755,LH00995:48:23YTGFLT4:1:2368:30156:6016,LH00995:48:23YTGFLT4:1:2368:36200:12840,LH00995:48:23YTGFLT4:1:2376:40083:9337,LH00995:48:23YTGFLT4:1:2379:12836:22593,LH00995:48:23YTGFLT4:1:2382:13167:1925,LH00995:48:23YTGFLT4:1:2395:39298:25297,LH00995:48:23YTGFLT4:1:2407:50956:10458,LH00995:48:23YTGFLT4:1:2424:40277:17605,LH00995:48:23YTGFLT4:1:2428:20473:21416,LH00995:48:23YTGFLT4:1:2430:10886:21206,LH00995:48:23YTGFLT4:1:2430:23191:1743,LH00995:48:23YTGFLT4:1:2431:23377:9604,LH00995:48:23YTGFLT4:1:2439:39581:26993,LH00995:48:23YTGFLT4:1:2441:45293:8749,LH00995:48:23YTGFLT4:1:2459:39379:17703,LH00995:48:23YTGFLT4:1:2475:43197:26054,LH00995:48:23YTGFLT4:2:1115:16873:15713,LH00995:48:23YTGFLT4:2:1116:22641:3032,LH00995:48:23YTGFLT4:2:1122:29477:4923,LH00995:48:23YTGFLT4:2:1130:30472:20211,LH00995:48:23YTGFLT4:2:1130:30480:20225,LH00995:48:23YTGFLT4:2:1145:12981:1322,LH00995:48:23YTGFLT4:2:1154:48877:18515,LH00995:48:23YTGFLT4:2:1162:29469:2695,LH00995:48:23YTGFLT4:2:1164:15869:12770,LH00995:48:23YTGFLT4:2:1171:40762:28983,LH00995:48:23YTGFLT4:2:1176:7771:22425,LH00995:48:23YTGFLT4:2:1198:35852:4615,LH00995:48:23YTGFLT4:2:1218:26605:29571,LH00995:48:23YTGFLT4:2:1218:31054:20799,LH00995:48:23YTGFLT4:2:1238:23927:19216,LH00995:48:23YTGFLT4:2:1270:1502:4363,LH00995:48:23YTGFLT4:2:1270:36151:12896,LH00995:48:23YTGFLT4:2:1277:44370:1266,LH00995:48:23YTGFLT4:2:1296:47275:20113,LH00995:48:23YTGFLT4:2:1316:50333:7950,LH00995:48:23YTGFLT4:2:1317:36394:4601,LH00995:48:23YTGFLT4:2:1336:22050:18543,LH00995:48:23YTGFLT4:2:1344:33117:22299,LH00995:48:23YTGFLT4:2:1348:26702:16960,LH00995:48:23YTGFLT4:2:1355:48836:23181,LH00995:48:23YTGFLT4:2:1364:25812:13905,LH00995:48:23YTGFLT4:2:1377:45406:15643,LH00995:48:23YTGFLT4:2:1381:46611:9267,LH00995:48:23YTGFLT4:2:1383:25124:7165,LH00995:48:23YTGFLT4:2:1392:38707:21976,LH00995:48:23YTGFLT4:2:1409:21743:18571,LH00995:48:23YTGFLT4:2:1411:34064:18025,LH00995:48:23YTGFLT4:2:1411:34072:18039,LH00995:48:23YTGFLT4:2:1424:36539:21892,LH00995:48:23YTGFLT4:2:1427:22083:28997,LH00995:48:23YTGFLT4:2:1437:18976:6465,LH00995:48:23YTGFLT4:2:1439:37130:9940,LH00995:48:23YTGFLT4:2:1441:4624:3746,LH00995:48:23YTGFLT4:2:1464:18863:19188,LH00995:48:23YTGFLT4:2:1491:45131:11916,LH00995:48:23YTGFLT4:2:2131:19364:4615,LH00995:48:23YTGFLT4:2:2136:47315:17801,LH00995:48:23YTGFLT4:2:2139:11525:15082,LH00995:48:23YTGFLT4:2:2140:46733:14942,LH00995:48:23YTGFLT4:2:2147:13264:8314,LH00995:48:23YTGFLT4:2:2171:47671:25536,LH00995:48:23YTGFLT4:2:2174:36831:18669,LH00995:48:23YTGFLT4:2:2182:13839:28618,LH00995:48:23YTGFLT4:2:2205:9381:29193,LH00995:48:23YTGFLT4:2:2215:14648:26348,LH00995:48:23YTGFLT4:2:2220:26613:11593,LH00995:48:23YTGFLT4:2:2238:32333:5190,LH00995:48:23YTGFLT4:2:2243:37915:13597,LH00995:48:23YTGFLT4:2:2274:51368:11621,LH00995:48:23YTGFLT4:2:2290:15352:9491,LH00995:48:23YTGFLT4:2:2296:18240:17829,LH0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GAS1

-/-

chr9:86946507

chr9:86946509

CDS

duplication/ITD

1032

1853

medium

in-frame

|GDNF/GAS1_domain(100%)

ENSG00000180447.7

ENST00000298743.9

upstream

downstream

duplicates(205)

CTGCTGGCAGGCGCTGCTGCAGTGCCAGGGGGAGCCGGAGTGCAGCTACGCCTACAACCAGTACGCCGAGGCGTGCGCGCCGGTGCTGGCGCAGCACGGCGGGGGCGACGCGCCCGGGGCCGCCGCCGCCGCT|GCTTTCCCGGCCTCGGCCGCCTCTTTCTCGTCGCGCTGGCGCTGCCCGAGTCACTGCATCTCGGCCCTCATTCAGCTCAACCACACGCGCCGCGGGCCCGCCCT

CWQALLQCQGEPECSYAYNQYAEACAPVLAQHGGGDAPGAAAAA|AFPASAASFSSRWRCPSHCISALIQLNHTRRGPA

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ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

599

672

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(342),low_entropy(1)

GCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT?AA

LTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH

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STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1578

331

medium

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(53)

CAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTG

QSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:48:23YTGFLT4:1:1145:5255:9155,LH00995:48:23YTGFLT4:1:1220:13855:14073,LH00995:48:23YTGFLT4:1:2341:8435:11860,LH00995:48:23YTGFLT4:2:1375:41240:21850,LH00995:48:23YTGFLT4:2:2344:12383:1490,LH00995:48:23YTGFLT4:2:2392:46967:25746,LH00995:48:23YTGFLT4:2:2416:7553:6857,LH00995:48:23YTGFLT4:3:1306:24073:26923,LH00995:48:23YTGFLT4:3:1306:24089:26923,LH00995:48:23YTGFLT4:3:2367:37996:26993,LH00995:48:23YTGFLT4:3:2416:20675:14340,LH00995:48:23YTGFLT4:3:2416:20683:14326,LH00995:48:23YTGFLT4:4:1203:45997:1532,LH00995:48:23YTGFLT4:4:1273:7068:7866,LH00995:48:23YTGFLT4:4:1287:43998:14270,LH00995:48:23YTGFLT4:4:1334:38076:2948,LH00995:48:23YTGFLT4:4:1342:8038:11369,LH00995:48:23YTGFLT4:4:1414:2529:13961,LH00995:48:23YTGFLT4:4:2179:25990:25283,LH00995:48:23YTGFLT4:4:2326:17382:10066,LH00995:48:23YTGFLT4:5:1102:49920:3368,LH00995:48:23YTGFLT4:5:1183:4673:21066,LH00995:48:23YTGFLT4:5:1427:45705:10052,LH00995:48:23YTGFLT4:5:1427:45722:10052,LH00995:48:23YTGFLT4:5:2127:13960:26586,LH00995:48:23YTGFLT4:5:2320:10757:2345,LH00995:48:23YTGFLT4:5:2430:14858:13541,LH00995:48:23YTGFLT4:5:2432:52032:24905,LH00995:48:23YTGFLT4:5:2476:21694:2709,LH00995:48:23YTGFLT4:6:1174:21678:27651,LH00995:48:23YTGFLT4:6:1239:5304:10192,LH00995:48:23YTGFLT4:6:1303:30229:24443,LH00995:48:23YTGFLT4:6:1359:9915:3915,LH00995:48:23YTGFLT4:6:1451:9583:15447,LH00995:48:23YTGFLT4:6:2360:36119:5722,LH00995:48:23YTGFLT4:7:1250:30998:11453,LH00995:48:23YTGFLT4:7:1473:18296:14928,LH00995:48:23YTGFLT4:7:2186:11574:15054,LH00995:48:23YTGFLT4:7:2270:16298:7852,LH00995:48:23YTGFLT4:7:2405:8734:28828,LH00995:48:23YTGFLT4:7:2423:34954:14550,LH00995:48:23YTGFLT4:8:1104:25319:11817,LH00995:48:23YTGFLT4:8:2104:50495:23308,LH00995:48:23YTGFLT4:8:2132:38562:7796,LH00995:48:23YTGFLT4:8:2282:39872:29207,LH00995:48:23YTGFLT4:8:2348:27082:14760,LH00995:48:23YTGFLT4:8:2348:31435:9772,LH00995:48:23YTGFLT4:1:1112:16970:16161,LH00995:48:23YTGFLT4:1:1210:18207:3172,LH00995:48:23YTGFLT4:1:1232:3241:28366,LH00995:48:23YTGFLT4:1:1493:31297:20855,LH00995:48:23YTGFLT4:1:1493:31305:20841,LH00995:48:23YTGFLT4:1:1493:31313:20827,LH00995:48:23YTGFLT4:1:1493:31321:20841,LH00995:48:23YTGFLT4:1:2232:5886:8455,LH00995:48:23YTGFLT4:1:2434:48424:19917,LH00995:48:23YTGFLT4:2:1136:7569:16414,LH00995:48:23YTGFLT4:2:2159:5474:20799,LH00995:48:23YTGFLT4:2:2227:34525:15741,LH00995:48:23YTGFLT4:2:2240:23879:17675,LH00995:48:23YTGFLT4:2:2293:31969:28548,LH00995:48:23YTGFLT4:3:1125:16889:21486,LH00995:48:23YTGFLT4:3:1280:10668:27021,LH00995:48:23YTGFLT4:3:2457:37898:1995,LH00995:48:23YTGFLT4:4:1164:31888:10725,LH00995:48:23YTGFLT4:4:1303:20909:27469,LH00995:48:23YTGFLT4:4:1326:20529:9295,LH00995:48:23YTGFLT4:4:1340:21371:4027,LH00995:48:23YTGFLT4:4:1370:26176:14816,LH00995:48:23YTGFLT4:4:1370:26184:14830,LH00995:48:23YTGFLT4:4:1479:38206:20827,LH00995:48:23YTGFLT4:4:2176:13467:12952,LH00995:48:23YTGFLT4:4:2209:20181:9337,LH00995:48:23YTGFLT4:4:2429:44314:25662,LH00995:48:23YTGFLT4:5:1137:46466:19776,LH00995:48:23YTGFLT4:5:1137:50179:23209,LH00995:48:23YTGFLT4:5:1471:17220:26937,LH00995:48:23YTGFLT4:5:1471:17237:26937,LH00995:48:23YTGFLT4:5:2168:35512:13695,LH00995:48:23YTGFLT4:6:1257:11315:13429,LH00995:48:23YTGFLT4:6:1257:11323:13443,LH00995:48:23YTGFLT4:6:2149:18620:16694,LH00995:48:23YTGFLT4:7:1231:12706:13261,LH00995:48:23YTGFLT4:7:1358:5741:21598,LH00995:48:23YTGFLT4:7:1378:46951:20393,LH00995:48:23YTGFLT4:7:1388:26621:27469,LH00995:48:23YTGFLT4:7:2209:41952:8146,LH00995:48:23YTGFLT4:7:2358:40681:27890,LH00995:48:23YTGFLT4:7:2358:40698:27890,LH00995:48:23YTGFLT4:8:1129:10287:1589,LH00995:48:23YTGFLT4:8:1230:28935:22957,LH00995:48:23YTGFLT4:8:2129:14923:6086

NPIPA3

+/+

chr16:14726287

chr16:14726229

CDS

duplication/ITD

585

671

medium

out-of-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000224712.12

ENST00000531598.6

downstream

upstream

duplicates(211)

CTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGA

LKTPPECLLTPLPPSAPPSVDDNLKTPPeCVCSLPFHPQRMIISR|hlpsvsahspstlsg

LH00995:48:23YTGFLT4:2:1431:45438:10935,LH00995:48:23YTGFLT4:2:1431:45438:10935,LH00995:48:23YTGFLT4:2:1431:45438:10935,LH00995:48:23YTGFLT4:3:1192:36879:23350,LH00995:48:23YTGFLT4:3:1192:36879:23350,LH00995:48:23YTGFLT4:3:2463:47437:16245,LH00995:48:23YTGFLT4:3:2463:47437:16245,LH00995:48:23YTGFLT4:3:2463:47437:16245,LH00995:48:23YTGFLT4:4:1177:41871:13947,LH00995:48:23YTGFLT4:4:1177:41871:13947,LH00995:48:23YTGFLT4:4:1177:41871:13947,LH00995:48:23YTGFLT4:5:1419:2157:28758,LH00995:48:23YTGFLT4:5:1419:2157:28758,LH00995:48:23YTGFLT4:5:1419:2157:28758,LH00995:48:23YTGFLT4:1:1207:30577:4671,LH00995:48:23YTGFLT4:1:1207:30577:4671,LH00995:48:23YTGFLT4:1:1207:30577:4671,LH00995:48:23YTGFLT4:1:1207:30585:4685,LH00995:48:23YTGFLT4:1:1207:30585:4685,LH00995:48:23YTGFLT4:1:1207:30585:4685,LH00995:48:23YTGFLT4:1:1280:19372:5666,LH00995:48:23YTGFLT4:1:1280:19372:5666,LH00995:48:23YTGFLT4:1:1280:19372:5666,LH00995:48:23YTGFLT4:1:1322:3492:11789,LH00995:48:23YTGFLT4:1:1322:3492:11789,LH00995:48:23YTGFLT4:1:1322:3492:11789,LH00995:48:23YTGFLT4:1:1335:2586:15573,LH00995:48:23YTGFLT4:1:1335:2586:15573,LH00995:48:23YTGFLT4:1:1335:2586:15573,LH00995:48:23YTGFLT4:1:1376:35091:6661,LH00995:48:23YTGFLT4:1:1376:35091:6661,LH00995:48:23YTGFLT4:1:1453:2359:7698,LH00995:48:23YTGFLT4:1:1453:2359:7698,LH00995:48:23YTGFLT4:1:2168:18385:24639,LH00995:48:23YTGFLT4:1:2168:18385:24639,LH00995:48:23YTGFLT4:1:2168:18385:24639,LH00995:48:23YTGFLT4:1:2223:35051:20099,LH00995:48:23YTGFLT4:1:2223:35051:20099,LH00995:48:23YTGFLT4:1:2223:35051:20099,LH00995:48:23YTGFLT4:1:2223:35051:20099,LH00995:48:23YTGFLT4:1:2277:21921:10668,LH00995:48:23YTGFLT4:1:2277:21921:10668,LH00995:48:23YTGFLT4:1:2277:21921:10668,LH00995:48:23YTGFLT4:1:2354:48027:9113,LH00995:48:23YTGFLT4:1:2354:48027:9113,LH00995:48:23YTGFLT4:1:2354:48027:9113,LH00995:48:23YTGFLT4:1:2367:16962:6030,LH00995:48:23YTGFLT4:1:2367:16962:6030,LH00995:48:23YTGFLT4:1:2367:16962:6030,LH00995:48:23YTGFLT4:1:2367:16962:6030,LH00995:48:23YTGFLT4:1:2373:5878:19931,LH00995:48:23YTGFLT4:1:2373:5878:19931,LH00995:48:23YTGFLT4:1:2373:5878:19931,LH00995:48:23YTGFLT4:1:2453:2270:13569,LH00995:48:23YTGFLT4:1:2453:2270:13569,LH00995:48:23YTGFLT4:1:2453:2270:13569,LH00995:48:23YTGFLT4:2:1361:2699:4839,LH00995:48:23YTGFLT4:2:1361:2699:4839,LH00995:48:23YTGFLT4:2:1361:2699:4839,LH00995:48:23YTGFLT4:2:1412:26969:8595,LH00995:48:23YTGFLT4:2:1412:26969:8595,LH00995:48:23YTGFLT4:2:1412:26969:8595,LH00995:48:23YTGFLT4:2:1469:51077:27960,LH00995:48:23YTGFLT4:2:1469:51077:27960,LH00995:48:23YTGFLT4:2:1469:51077:27960,LH00995:48:23YTGFLT4:2:2137:45179:21948,LH00995:48:23YTGFLT4:2:2137:45179:21948,LH00995:48:23YTGFLT4:2:2137:45179:21948,LH00995:48:23YTGFLT4:2:2320:3856:14802,LH00995:48:23YTGFLT4:2:2320:3856:14802,LH00995:48:23YTGFLT4:2:2320:3856:14802,LH00995:48:23YTGFLT4:2:2321:20812:17436,LH00995:48:23YTGFLT4:2:2321:20812:17436,LH00995:48:23YTGFLT4:2:2447:13070:19973,LH00995:48:23YTGFLT4:2:2447:13070:19973,LH00995:48:23YTGFLT4:2:2447:13070:19973,LH00995:48:23YTGFLT4:3:1145:7585:24709,LH00995:48:23YTGFLT4:3:1145:7585:24709,LH00995:48:23YTGFLT4:3:1145:7585:24709,LH00995:48:23YTGFLT4:3:1145:7585:24709,LH00995:48:23YTGFLT4:3:1158:32017:12882,LH00995:48:23YTGFLT4:3:1158:32017:12882,LH00995:48:23YTGFLT4:3:1158:32017:12882,LH00995:48:23YTGFLT4:3:1193:26200:5470,LH00995:48:23YTGFLT4:3:1193:26200:5470,LH00995:48:23YTGFLT4:3:1193:26208:5484,LH00995:48:23YTGFLT4:3:1193:26208:5484,LH00995:48:23YTGFLT4:3:1297:40366:14480,LH00995:48:23YTGFLT4:3:1297:40366:14480,LH00995:48:23YTGFLT4:3:1297:40366:14480,LH00995:48:23YTGFLT4:3:1323:30043:14536,LH00995:48:23YTGFLT4:3:1323:30043:14536,LH00995:48:23YTGFLT4:3:1323:30043:14536,LH00995:48:23YTGFLT4:3:1354:11347:28366,LH00995:48:23YTGFLT4:3:1354:11347:28366,LH00995:48:23YTGFLT4:3:1354:11347:28366,LH00995:48:23YTGFLT4:3:1438:20489:17240,LH00995:48:23YTGFLT4:3:1438:20489:17240,LH00995:48:23YTGFLT4:3:1438:20489:17240,LH00995:48:23YTGFLT4:3:1470:22665:19132,LH00995:48:23YTGFLT4:3:1470:22665:19132,LH00995:48:23YTGFLT4:3:2361:45301:29025,LH00995:48:23YTGFLT4:3:2361:45301:29025,LH00995:48:23YTGFLT4:3:2361:45301:29025,LH00995:48:23YTGFLT4:3:2379:24510:16442,LH00995:48:23YTGFLT4:3:2379:24510:16442,LH00995:48:23YTGFLT4:3:2458:31232:5246,LH00995:48:23YTGFLT4:3:2458:31232:5246,LH00995:48:23YTGFLT4:3:2458:31232:5246,LH00995:48:23YTGFLT4:3:2470:8734:19076,LH00995:48:23YTGFLT4:3:2470:8734:19076,LH00995:48:23YTGFLT4:3:2470:8734:19076,LH00995:48:23YTGFLT4:4:1141:49338:24555,LH00995:48:23YTGFLT4:4:1141:49338:24555,LH00995:48:23YTGFLT4:4:1141:49338:24555,LH00995:48:23YTGFLT4:4:1341:5886:15629,LH00995:48:23YTGFLT4:4:1341:5886:15629,LH00995:48:23YTGFLT4:4:1341:5886:15629,LH00995:48:23YTGFLT4:4:1341:5886:15629,LH00995:48:23YTGFLT4:4:1347:38594:24779,LH00995:48:23YTGFLT4:4:1347:38594:24779,LH00995:48:23YTGFLT4:4:1438:47137:18501,LH00995:48:23YTGFLT4:4:1438:47137:18501,LH00995:48:23YTGFLT4:4:1438:47137:18501,LH00995:48:23YTGFLT4:4:2326:36531:20141,LH00995:48:23YTGFLT4:4:2326:36531:20141,LH00995:48:23YTGFLT4:4:2326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PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

TCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACA

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

LH00995:48:23YTGFLT4:1:1339:49815:13191,LH00995:48:23YTGFLT4:1:1430:45811:9421,LH00995:48:23YTGFLT4:1:2119:45333:7334,LH00995:48:23YTGFLT4:1:2127:11525:1911,LH00995:48:23YTGFLT4:1:2258:31483:11761,LH00995:48:23YTGFLT4:1:2490:4139:29109,LH00995:48:23YTGFLT4:2:1143:26111:11033,LH00995:48:23YTGFLT4:2:1405:14818:2373,LH00995:48:23YTGFLT4:2:1412:48132:1701,LH00995:48:23YTGFLT4:2:2118:50292:13625,LH00995:48:23YTGFLT4:2:2318:20699:13009,LH00995:48:23YTGFLT4:2:2421:42024:1827,LH00995:48:23YTGFLT4:2:2452:27406:6128,LH00995:48:23YTGFLT4:2:2464:27058:28142,LH00995:48:23YTGFLT4:3:1233:13709:23658,LH00995:48:23YTGFLT4:3:1233:13726:23658,LH00995:48:23YTGFLT4:3:1470:5409:28506,LH00995:48:23YTGFLT4:3:2257:24299:23532,LH00995:48:23YTGFLT4:3:2296:3128:16848,LH00995:48:23YTGFLT4:3:2391:2869:17100,LH00995:48:23YTGFLT4:3:2478:40180:23630,LH00995:48:23YTGFLT4:4:1246:50729:2331,LH00995:48:23YTGFLT4:4:1263:39565:10907,LH00995:48:23YTGFLT4:4:1263:39581:10907,LH00995:48:23YTGFLT4:4:1310:14138:26923,LH00995:48:23YTGFLT4:4:1363:23304:13905,LH00995:48:23YTGFLT4:4:2154:1785:11383,LH00995:48:23YTGFLT4:4:2285:3411:23588,LH00995:48:23YTGFLT4:4:2345:30804:15657,LH00995:48:23YTGFLT4:4:2429:35140:20309,LH00995:48:23YTGFLT4:4:2429:35156:20309,LH00995:48:23YTGFLT4:4:2485:43715:29669,LH00995:48:23YTGFLT4:5:1182:16444:28226,LH00995:48:23YTGFLT4:5:1259:17884:24162,LH00995:48:23YTGFLT4:5:2124:24032:5246,LH00995:48:23YTGFLT4:5:2343:35463:6745,LH00995:48:23YTGFLT4:5:2351:24323:22257,LH00995:48:23YTGFLT4:5:2432:4228:28282,LH00995:48:23YTGFLT4:6:2182:27244:23952,LH00995:48:23YTGFLT4:6:2366:41401:22327,LH00995:48:23YTGFLT4:6:2429:25108:9912,LH00995:48:23YTGFLT4:7:1122:2343:17254,LH00995:48:23YTGFLT4:7:2196:44233:29389,LH00995:48:23YTGFLT4:7:2488:1841:4251,LH00995:48:23YTGFLT4:8:1202:31054:2191,LH00995:48:23YTGFLT4:8:1237:12108:28870,LH00995:48:23YTGFLT4:8:1281:18927:18403,LH00995:48:23YTGFLT4:8:1367:19089:18347,LH00995:48:23YTGFLT4:8:1434:31208:28912,LH00995:48:23YTGFLT4:8:2240:50203:14480,LH00995:48:23YTGFLT4:8:2246:21031:14536,LH00995:48:23YTGFLT4:8:2413:13887:2135,LH00995:48:23YTGFLT4:8:2476:42575:10514,LH00995:48:23YTGFLT4:1:1260:18952:2780,LH00995:48:23YTGFLT4:1:1284:24299:22383,LH00995:48:23YTGFLT4:1:2107:13321:5834,LH00995:48:23YTGFLT4:1:2165:40738:5036,LH00995:48:23YTGFLT4:1:2245:26006:20183,LH00995:48:23YTGFLT4:1:2425:16314:25003,LH00995:48:23YTGFLT4:1:2443:45309:16287,LH00995:48:23YTGFLT4:1:2494:26670:8581,LH00995:48:23YTGFLT4:2:1294:20764:12448,LH00995:48:23YTGFLT4:2:2329:47971:28520,LH00995:48:23YTGFLT4:2:2451:27260:15349,LH00995:48:23YTGFLT4:3:1205:7173:21752,LH00995:48:23YTGFLT4:3:1441:11695:15853,LH00995:48:23YTGFLT4:3:1454:19542:4419,LH00995:48:23YTGFLT4:3:1466:43092:12000,LH00995:48:23YTGFLT4:3:2149:8977:24148,LH00995:48:23YTGFLT4:3:2205:11954:23252,LH00995:48:23YTGFLT4:3:2214:37583:21738,LH00995:48:23YTGFLT4:3:2240:38594:19146,LH00995:48:23YTGFLT4:3:2273:39379:20869,LH00995:48:23YTGFLT4:4:1147:1785:28030,LH00995:48:23YTGFLT4:4:1226:15335:12434,LH00995:48:23YTGFLT4:4:1324:28660:27049,LH00995:48:23YTGFLT4:4:1324:28668:27063,LH00995:48:23YTGFLT4:4:2128:42761:17142,LH00995:48:23YTGFLT4:4:2273:10651:5862,LH00995:48:23YTGFLT4:4:2434:16055:24443,LH00995:48:23YTGFLT4:4:2482:26937:29753,LH00995:48:23YTGFLT4:5:1183:51708:19664,LH00995:48:23YTGFLT4:5:1337:29186:24036,LH00995:48:23YTGFLT4:5:1337:30949:21794,LH00995:48:23YTGFLT4:5:1368:27058:10823,LH00995:48:23YTGFLT4:5:1451:13143:18389,LH00995:48:23YTGFLT4:5:2120:32980:9477,LH00995:48:23YTGFLT4:5:2120:32988:9463,LH00995:48:23YTGFLT4:5:2153:16743:16638,LH00995:48:23YTGFLT4:5:2447:30415:15797,LH00995:48:23YTGFLT4:6:1426:14826:1462,LH00995:48:23YTGFLT4:6:1438:36693:23616,LH00995:48:23YTGFLT4:6:2182:47623:7488,LH00995:48:23YTGFLT4:6:2206:48140:14326,LH00995:48:23YTGFLT4:6:2214:1307:15853,LH00995:48:23YTGFLT4:6:2244:27042:12644,LH00995:48:23YTGFLT4:6:2423:40835:25522,LH00995:48:23YTGFLT4:7:1217:51441:15559,LH00995:48:23YTGFLT4:7:1249:2448:28450,LH00995:48:23YTGFLT4:8:1111:50373:14073,LH00995:48:23YTGFLT4:8:1111:50381:14059,LH00995:48:23YTGFLT4:8:1149:26338:8791,LH00995:48:23YTGFLT4:8:1169:47509:26460,LH00995:48:23YTGFLT4:8:1309:43505:23167,LH00995:48:23YTGFLT4:8:2255:25852:25437,LH00995:48:23YTGFLT4:8:2266:40892:19790,LH00995:48:23YTGFLT4:8:2340:46846:12476,LH00995:48:23YTGFLT4:8:2469:10587:6843

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

6092

medium

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(79)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFD

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

CCGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGG

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

LH00995:48:23YTGFLT4:1:1149:49063:26516,LH00995:48:23YTGFLT4:1:1210:2448:25956,LH00995:48:23YTGFLT4:1:1251:48278:25886,LH00995:48:23YTGFLT4:1:1295:16468:25325,LH00995:48:23YTGFLT4:1:1473:23652:16021,LH00995:48:23YTGFLT4:1:1486:7601:26082,LH00995:48:23YTGFLT4:1:2109:43343:7193,LH00995:48:23YTGFLT4:1:2117:28482:11047,LH00995:48:23YTGFLT4:1:2180:48464:16596,LH00995:48:23YTGFLT4:1:2374:34193:2079,LH00995:48:23YTGFLT4:1:2394:31281:28674,LH00995:48:23YTGFLT4:1:2416:15230:16568,LH00995:48:23YTGFLT4:2:1238:40932:15601,LH00995:48:23YTGFLT4:2:1283:41272:9828,LH00995:48:23YTGFLT4:2:1332:2747:4559,LH00995:48:23YTGFLT4:2:1335:51296:28394,LH00995:48:23YTGFLT4:2:1341:35997:29305,LH00995:48:23YTGFLT4:2:2187:20270:4727,LH00995:48:23YTGFLT4:2:2289:39864:6829,LH00995:48:23YTGFLT4:2:2331:14462:14087,LH00995:48:23YTGFLT4:2:2332:41159:20505,LH00995:48:23YTGFLT4:2:2333:19842:27021,LH00995:48:23YTGFLT4:2:2338:21702:29403,LH00995:48:23YTGFLT4:2:2446:10716:21164,LH00995:48:23YTGFLT4:2:2453:47364:6843,LH00995:48:23YTGFLT4:3:1355:47202:14942,LH00995:48:23YTGFLT4:3:1397:48650:20085,LH00995:48:23YTGFLT4:3:2210:46830:22088,LH00995:48:23YTGFLT4:3:2224:3613:7292,LH00995:48:23YTGFLT4:3:2243:46757:25213,LH00995:48:23YTGFLT4:3:2292:2691:7824,LH00995:48:23YTGFLT4:4:1183:15255:2177,LH00995:48:23YTGFLT4:4:1216:39622:15825,LH00995:48:23YTGFLT4:4:1240:26459:24863,LH00995:48:23YTGFLT4:4:1381:9106:16105,LH00995:48:23YTGFLT4:4:2330:19834:27455,LH00995:48:23YTGFLT4:4:2377:8524:29585,LH00995:48:23YTGFLT4:4:2383:4980:29221,LH00995:48:23YTGFLT4:4:2466:44993:28324,LH00995:48:23YTGFLT4:4:2489:26030:29221,LH00995:48:23YTGFLT4:5:1114:2561:26993,LH00995:48:23YTGFLT4:5:1192:20651:10935,LH00995:48:23YTGFLT4:5:1260:39678:22397,LH00995:48:23YTGFLT4:5:1349:46846:7348,LH00995:48:23YTGFLT4:5:1492:40406:4181,LH00995:48:23YTGFLT4:5:2116:28158:9113,LH00995:48:23YTGFLT4:5:2132:19033:16456,LH00995:48:23YTGFLT4:5:2166:6008:21388,LH00995:48:23YTGFLT4:5:2352:21597:10052,LH00995:48:23YTGFLT4:5:2378:41304:25241,LH00995:48:23YTGFLT4:5:2397:52072:3732,LH00995:48:23YTGFLT4:6:1101:10198:4013,LH00995:48:23YTGFLT4:6:1186:30092:19692,LH00995:48:23YTGFLT4:6:1211:4543:3971,LH00995:48:23YTGFLT4:6:1211:4552:3985,LH00995:48:23YTGFLT4:6:1331:35811:13933,LH00995:48:23YTGFLT4:6:1474:19380:8427,LH00995:48:23YTGFLT4:6:2445:11913:1883,LH00995:48:23YTGFLT4:7:1172:37551:10977,LH00995:48:23YTGFLT4:7:1241:12156:17296,LH00995:48:23YTGFLT4:7:1285:42356:3971,LH00995:48:23YTGFLT4:7:1335:6857:25662,LH00995:48:23YTGFLT4:7:1474:37543:8749,LH00995:48:23YTGFLT4:7:2316:39800:17366,LH00995:48:23YTGFLT4:7:2345:9559:7754,LH00995:48:23YTGFLT4:7:2428:51732:22341,LH00995:48:23YTGFLT4:7:2461:5021:23798,LH00995:48:23YTGFLT4:8:1109:26071:5890,LH00995:48:23YTGFLT4:8:1109:26079:5904,LH00995:48:23YTGFLT4:8:1183:46280:13093,LH00995:48:23YTGFLT4:8:1219:42890:26727,LH00995:48:23YTGFLT4:8:1320:9689:18627,LH00995:48:23YTGFLT4:8:1357:7407:26530,LH00995:48:23YTGFLT4:8:2210:31006:3368,LH00995:48:23YTGFLT4:8:2223:39848:17422,LH00995:48:23YTGFLT4:8:2230:49297:19272,LH00995:48:23YTGFLT4:8:2272:28902:4293,LH00995:48:23YTGFLT4:8:2318:46919:7754,LH00995:48:23YTGFLT4:1:1252:31532:20645,LH00995:48:23YTGFLT4:1:1325:37890:23812,LH00995:48:23YTGFLT4:1:1458:33158:9001,LH00995:48:23YTGFLT4:1:2187:1752:18978,LH00995:48:23YTGFLT4:1:2223:41490:9337,LH00995:48:23YTGFLT4:1:2226:30108:5652,LH00995:48:23YTGFLT4:1:2312:16824:15040,LH00995:48:23YTGFLT4:1:2488:13790:16540,LH00995:48:23YTGFLT4:2:1179:23757:4013,LH00995:48:23YTGFLT4:2:1249:1356:16946,LH00995:48:23YTGFLT4:2:1479:5312:21220,LH00995:48:23YTGFLT4:2:2112:44961:9688,LH00995:48:23YTGFLT4:2:2168:29275:29291,LH00995:48:23YTGFLT4:2:2293:45900:9968,LH00995:48:23YTGFLT4:3:1208:11768:8581,LH00995:48:23YTGFLT4:3:1350:19704:4643,LH00995:48:23YTGFLT4:3:1395:4082:29039,LH00995:48:23YTGFLT4:3:1397:20319:19973,LH00995:48:23YTGFLT4:3:2268:45535:6843,LH00995:48:23YTGFLT4:3:2380:26022:5190,LH00995:48:23YTGFLT4:3:2444:33627:13737,LH00995:48:23YTGFLT4:4:2140:22681:13247,LH00995:48:23YTGFLT4:4:2224:24218:25325,LH00995:48:23YTGFLT4:5:2231:41766:25872,LH00995:48:23YTGFLT4:5:2238:37640:14858,LH00995:48:23YTGFLT4:5:2476:7237:9982,LH00995:48:23YTGFLT4:6:1283:9964:18291,LH00995:48:23YTGFLT4:6:1307:6833:26628,LH00995:48:23YTGFLT4:6:1369:34112:29431,LH00995:48:23YTGFLT4:6:1377:40520:15839,LH00995:48:23YTGFLT4:6:2208:17301:3032,LH00995:48:23YTGFLT4:7:1133:35593:23167,LH00995:48:23YTGFLT4:7:1415:47105:9814,LH00995:48:23YTGFLT4:7:1473:21662:7334,LH00995:48:23YTGFLT4:8:1117:4406:24190,LH00995:48:23YTGFLT4:8:1326:5838:1617,LH00995:48:23YTGFLT4:8:1326:5846:1631,LH00995:48:23YTGFLT4:8:1475:51109:28688,LH00995:48:23YTGFLT4:8:2219:42841:11285,LH00995:48:23YTGFLT4:8:2232:7432:28394

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

232

6092

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(87),low_entropy(3)

ADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGT

PRUNE2

-/-

chr9:76709219

chr9:76709230

CDS

duplication/ITD

167

159

medium

in-frame

DHHA2_domain(100%)|Bcl2-/adenovirus_E1B_nineteen_kDa-interacting_protein_2(100%),Divergent_CRAL/TRIO_domain(100%)

ENSG00000106772.18

ENST00000376718.8

upstream

downstream

duplicates(59)

CTTAGATACCAATTATTCCACCTCAGACTCTTACACATCACCAACATTTGCTGGAGACGAAAAGGAAACTGAACACAAGCCATTTGCTAAAGAGGAAGGTTTTGAGTCAAAAGATGGTAACTCCAtGGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGATGAAAATGAACTCAAGAC

LDTNYSTSDSYTSPTFAGDEKETEHKPFAKEEGFESKDGNSmAEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNLDENELK

LH00995:48:23YTGFLT4:1:1132:11711:19188,LH00995:48:23YTGFLT4:1:1132:11711:19188,LH00995:48:23YTGFLT4:2:1301:49208:5414,LH00995:48:23YTGFLT4:2:1301:49208:5414,LH00995:48:23YTGFLT4:6:1161:19890:21920,LH00995:48:23YTGFLT4:6:1161:19890:21920,LH00995:48:23YTGFLT4:1:1393:14171:15517,LH00995:48:23YTGFLT4:7:2121:39177:25536,LH00995:48:23YTGFLT4:8:1250:4657:21038,LH00995:48:23YTGFLT4:8:1250:4665:21024,LH00995:48:23YTGFLT4:8:2451:28724:3844,LH00995:48:23YTGFLT4:1:1332:23798:4615,LH00995:48:23YTGFLT4:1:1424:7294:19973,LH00995:48:23YTGFLT4:1:2440:36701:11131,LH00995:48:23YTGFLT4:2:1178:35795:8441,LH00995:48:23YTGFLT4:2:1414:28288:7628,LH00995:48:23YTGFLT4:3:1104:30561:24288,LH00995:48:23YTGFLT4:3:1368:35965:3438,LH00995:48:23YTGFLT4:3:1414:2060:22145,LH00995:48:23YTGFLT4:3:1414:2060:22145,LH00995:48:23YTGFLT4:3:1414:2076:22145,LH00995:48:23YTGFLT4:3:1414:2076:22145,LH00995:48:23YTGFLT4:3:2280:5636:26853,LH00995:48:23YTGFLT4:3:2282:6161:20477,LH00995:48:23YTGFLT4:3:2387:33109:7460,LH00995:48:23YTGFLT4:4:1387:39516:23153,LH00995:48:23YTGFLT4:4:1490:38675:27413,LH00995:48:23YTGFLT4:4:2137:45228:21836,LH00995:48:23YTGFLT4:4:2174:2804:21976,LH00995:48:23YTGFLT4:5:1155:43206:14830,LH00995:48:23YTGFLT4:5:1307:37203:16315,LH00995:48:23YTGFLT4:5:2144:7003:4643,LH00995:48:23YTGFLT4:5:2449:43837:2023,LH00995:48:23YTGFLT4:7:1292:6105:23238,LH00995:48:23YTGFLT4:7:2371:44063:18025,LH00995:48:23YTGFLT4:7:2451:24679:22425,LH00995:48:23YTGFLT4:8:2451:39775:14017,LH00995:48:23YTGFLT4:1:1332:23798:4615,LH00995:48:23YTGFLT4:1:1424:7294:19973,LH00995:48:23YTGFLT4:1:2440:36701:11131,LH00995:48:23YTGFLT4:2:1178:35795:8441,LH00995:48:23YTGFLT4:2:1414:28288:7628,LH00995:48:23YTGFLT4:3:1104:30561:24288,LH00995:48:23YTGFLT4:3:1368:35965:3438,LH00995:48:23YTGFLT4:3:2280:5636:26853,LH00995:48:23YTGFLT4:3:2282:6161:20477,LH00995:48:23YTGFLT4:3:2387:33109:7460,LH00995:48:23YTGFLT4:4:1387:39516:23153,LH00995:48:23YTGFLT4:4:1490:38675:27413,LH00995:48:23YTGFLT4:4:2137:45228:21836,LH00995:48:23YTGFLT4:4:2174:2804:21976,LH00995:48:23YTGFLT4:5:1155:43206:14830,LH00995:48:23YTGFLT4:5:1307:37203:16315,LH00995:48:23YTGFLT4:5:2144:7003:4643,LH00995:48:23YTGFLT4:5:2449:43837:2023,LH00995:48:23YTGFLT4:7:1292:6105:23238,LH00995:48:23YTGFLT4:7:2371:44063:18025,LH00995:48:23YTGFLT4:7:2451:24679:22425,LH00995:48:23YTGFLT4:8:2451:39775:14017,LH00995:48:23YTGFLT4:1:1474:28773:10514,LH00995:48:23YTGFLT4:1:2116:45616:7936,LH00995:48:23YTGFLT4:1:2252:33279:15208,LH00995:48:23YTGFLT4:2:1168:11622:7712,LH00995:48:23YTGFLT4:2:2166:13701:11958,LH00995:48:23YTGFLT4:2:2218:32761:22831,LH00995:48:23YTGFLT4:3:2159:26338:19020,LH00995:48:23YTGFLT4:3:2309:18782:14508,LH00995:48:23YTGFLT4:3:2328:46199:22705,LH00995:48:23YTGFLT4:6:2170:40617:2752,LH00995:48:23YTGFLT4:6:2335:28474:25185,LH00995:48:23YTGFLT4:7:2242:9219:13947,LH00995:48:23YTGFLT4:8:1134:7116:15825,LH00995:48:23YTGFLT4:8:2423:28498:13373,LH00995:48:23YTGFLT4:4:2180:24696:12924,LH00995:48:23YTGFLT4:7:2439:33417:9337,LH00995:48:23YTGFLT4:8:1353:9810:3508,LH00995:48:23YTGFLT4:8:1438:13887:28926,LH00995:48:23YTGFLT4:4:2137:45228:21836,LH00995:48:23YTGFLT4:4:2137:45228:21836,LH00995:48:23YTGFLT4:4:2137:45228:21836

RADIL

-/-

chr7:4803583

chr7:4803591

CDS

duplication/ITD

153

189

medium

in-frame

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

ENSG00000157927.17

ENST00000399583.4

upstream

downstream

duplicates(57)

CTTGGAAGCCAgCTGCCTaGACGACAGCATCTACCAGCACCTGCTCTACGTCCGCCACTTTCTGTGGGGTCTGCGGAGCAGAGCCAGCCCCGGCAGCCCTGGCAG|CCCTGGCAGGCCTGGCAGTGGGGCCTCCCAGCCAGTGTGCCCCGAGGTACC?GGGGAGGGGGCCCCCCAGCCAGCGTGCCCCGAGGTGCCCGGGGAGGGGACCCAGCCAGCGTGCCCCGAGGTGCCCGGGGAGGGGGCCACCCAGCCAGCGTGCCCCGAG___GGTATGCACCACaTGGTCCTTGACGGGCACCTGGAGGCCCCGAGCTGCCCCCTGGCTCCCAGGGACCCTGGCCCAGCAGCCCGGGAAGTGGCCC

LEAsCLDDSIYQHLLYVRHFLWGLRSRASPGSPGs|PGRPGSGASQPVCPEvpgegapqpacpevpgegtqpacpevpgegatqpacpeGMHHmVLDGHLEAPSCPLAPRDPGPAAREVA

LH00995:48:23YTGFLT4:1:1375:42032:26811,LH00995:48:23YTGFLT4:4:1420:49702:5988,LH00995:48:23YTGFLT4:1:1115:34355:9954,LH00995:48:23YTGFLT4:1:1115:34355:9954,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1322:38327:2065,LH00995:48:23YTGFLT4:1:1375:42032:26811,LH00995:48:23YTGFLT4:2:2295:9575:8286,LH00995:48:23YTGFLT4:2:2295:9575:8286,LH00995:48:23YTGFLT4:2:2357:24550:15110,LH00995:48:23YTGFLT4:2:2357:24550:15110,LH00995:48:23YTGFLT4:3:1152:28110:7712,LH00995:48:23YTGFLT4:3:1152:28110:7712,LH00995:48:23YTGFLT4:3:1152:28118:7726,LH00995:48:23YTGFLT4:3:1152:28118:7726,LH00995:48:23YTGFLT4:3:1255:8160:10795,LH00995:48:23YTGFLT4:3:1255:8160:10795,LH00995:48:23YTGFLT4:3:1265:1485:27651,LH00995:48:23YTGFLT4:3:1265:1485:27651,LH00995:48:23YTGFLT4:3:2184:32648:11369,LH00995:48:23YTGFLT4:3:2184:32648:11369,LH00995:48:23YTGFLT4:4:1344:50802:5708,LH00995:48:23YTGFLT4:4:1344:50802:5708,LH00995:48:23YTGFLT4:4:1420:49702:5988,LH00995:48:23YTGFLT4:4:2308:26257:9351,LH00995:48:23YTGFLT4:4:2308:26257:9351,LH00995:48:23YTGFLT4:4:2462:52024:15867,LH00995:48:23YTGFLT4:4:2462:52024:15867,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2157:23029:10963,LH00995:48:23YTGFLT4:5:2436:5886:21766,LH00995:48:23YTGFLT4:5:2436:5886:21766,LH00995:48:23YTGFLT4:6:2123:14219:19636,LH00995:48:23YTGFLT4:6:2123:14219:19636,LH00995:48:23YTGFLT4:6:2492:26516:27988,LH00995:48:23YTGFLT4:6:2492:26516:27988,LH00995:48:23YTGFLT4:6:2492:26524:28002,LH00995:48:23YTGFLT4:6:2492:26524:28002,LH00995:48:23YTGFLT4:7:1275:34711:12532,LH00995:48:23YTGFLT4:7:1275:34711:12532,LH00995:48:23YTGFLT4:3:1172:24477:2625,LH00995:48:23YTGFLT4:3:1172:24477:2625,LH00995:48:23YTGFLT4:5:1214:27907:25101,LH00995:48:23YTGFLT4:5:1214:27907:25101

RORA

IGF1R

-/-

+/+

chr15:61229053

chr15:98707562

CDS/splice-site

inversion

2096

16034

medium

in-frame

|Furin-like_cysteine_rich_region(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)

ENSG00000069667.16

ENSG00000140443.15

ENST00000335670.11

ENST00000650285.1

upstream

duplicates(13)

GAGCCAGGCAGCAGCGGCGCGGACGCGGCCGCCGGCTCCAGGGAGACCCCGCTGAACCAGGAATCCGCCCGCAAGAGCGAGCCGCCTGCCCCGGTGCGCAGACAGAGCTATTCCAGCACCAGCAGAG|TCTGCGGGCCAGGCATCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACATCCTGCTCATCTCCAAGGCCGAGGAC

EPGSSGADAAAGSRETPLNQESARKSEPPAPVRRQSYSSTSR|vCGPGIDIRNDYQQLKRLENCTVIEGYLHILLISKAE

LH00995:48:23YTGFLT4:1:2216:26734:27553,LH00995:48:23YTGFLT4:1:2261:7035:15321,LH00995:48:23YTGFLT4:1:2337:37729:15236,LH00995:48:23YTGFLT4:2:1331:45438:3396,LH00995:48:23YTGFLT4:2:2190:47453:12854,LH00995:48:23YTGFLT4:2:2190:47461:12868,LH00995:48:23YTGFLT4:4:1145:13556:29193,LH00995:48:23YTGFLT4:5:1162:45770:7137,LH00995:48:23YTGFLT4:5:1252:1882:9141,LH00995:48:23YTGFLT4:5:1407:44370:2864,LH00995:48:23YTGFLT4:5:2397:39355:8525,LH00995:48:23YTGFLT4:5:2479:29550:21388,LH00995:48:23YTGFLT4:6:1358:39136:13303,LH00995:48:23YTGFLT4:6:2151:47809:28296,LH00995:48:23YTGFLT4:7:2109:21921:3130,LH00995:48:23YTGFLT4:7:2383:17083:11425,LH00995:48:23YTGFLT4:8:1229:21079:29053,LH00995:48:23YTGFLT4:8:1232:20812:28086,LH00995:48:23YTGFLT4:8:2130:19437:6815,LH00995:48:23YTGFLT4:8:2363:27187:18782,LH00995:48:23YTGFLT4:1:2135:18491:18263,LH00995:48:23YTGFLT4:3:2373:20028:1532,LH00995:48:23YTGFLT4:5:1282:17229:3410,LH00995:48:23YTGFLT4:5:1402:37721:11131,LH00995:48:23YTGFLT4:5:1402:37737:11131,LH00995:48:23YTGFLT4:6:1153:33239:16736,LH00995:48:23YTGFLT4:6:2352:19372:25087,LH00995:48:23YTGFLT4:7:2354:47534:8455,LH00995:48:23YTGFLT4:8:1337:47485:29333

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

529

384

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(37),mismatches(3),multimappers(2)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGG

LH00995:48:23YTGFLT4:1:1168:17536:16161,LH00995:48:23YTGFLT4:1:1274:11323:26138,LH00995:48:23YTGFLT4:1:1305:11671:25087,LH00995:48:23YTGFLT4:2:2252:44953:11243,LH00995:48:23YTGFLT4:3:1217:25933:5260,LH00995:48:23YTGFLT4:4:2114:21452:27904,LH00995:48:23YTGFLT4:4:2114:21468:27904,LH00995:48:23YTGFLT4:4:2181:21460:16147,LH00995:48:23YTGFLT4:4:2372:20481:7754,LH00995:48:23YTGFLT4:5:2488:50867:19580,LH00995:48:23YTGFLT4:7:2348:17698:26979,LH00995:48:23YTGFLT4:1:1104:11646:20673,LH00995:48:23YTGFLT4:1:1485:7982:15643,LH00995:48:23YTGFLT4:1:2168:12585:25802,LH00995:48:23YTGFLT4:2:1148:2424:19468,LH00995:48:23YTGFLT4:2:1244:30642:24541,LH00995:48:23YTGFLT4:2:1450:20788:13359,LH00995:48:23YTGFLT4:3:1242:1121:7404,LH00995:48:23YTGFLT4:3:1242:1129:7418,LH00995:48:23YTGFLT4:3:1268:15950:8875,LH00995:48:23YTGFLT4:3:1491:32996:12504,LH00995:48:23YTGFLT4:3:2112:33255:6619,LH00995:48:23YTGFLT4:3:2146:46951:24933,LH00995:48:23YTGFLT4:3:2292:38117:10472,LH00995:48:23YTGFLT4:3:2424:35116:10935,LH00995:48:23YTGFLT4:3:2435:11614:3746,LH00995:48:23YTGFLT4:3:2450:21557:14606,LH00995:48:23YTGFLT4:4:1126:26354:29417,LH00995:48:23YTGFLT4:4:1126:26362:29403,LH00995:48:23YTGFLT4:4:1181:20537:6255,LH00995:48:23YTGFLT4:4:1188:38780:9968,LH00995:48:23YTGFLT4:4:1371:37745:23027,LH00995:48:23YTGFLT4:4:1388:24655:16357,LH00995:48:23YTGFLT4:4:1388:24671:16357,LH00995:48:23YTGFLT4:4:2179:30836:24176,LH00995:48:23YTGFLT4:4:2226:2424:4391,LH00995:48:23YTGFLT4:4:2329:23547:15783,LH00995:48:23YTGFLT4:4:2338:28102:25101,LH00995:48:23YTGFLT4:4:2387:30367:21598,LH00995:48:23YTGFLT4:4:2461:19178:6619,LH00995:48:23YTGFLT4:5:1283:41531:21738,LH00995:48:23YTGFLT4:5:2180:24267:14928,LH00995:48:23YTGFLT4:5:2348:40342:19594,LH00995:48:23YTGFLT4:5:2425:15829:27105,LH00995:48:23YTGFLT4:6:2253:28126:12084,LH00995:48:23YTGFLT4:6:2420:9713:15727,LH00995:48:23YTGFLT4:7:1222:9996:23364,LH00995:48:23YTGFLT4:7:1349:2084:18515,LH00995:48:23YTGFLT4:7:1379:42639:20715,LH00995:48:23YTGFLT4:7:2220:31758:4419,LH00995:48:23YTGFLT4:7:2276:29719:6044,LH00995:48:23YTGFLT4:7:2307:38885:29683,LH00995:48:23YTGFLT4:7:2341:17981:19174,LH00995:48:23YTGFLT4:8:1393:49847:4363,LH00995:48:23YTGFLT4:8:2139:32980:6591,LH00995:48:23YTGFLT4:8:2494:13936:13093

LINC02254

IGF1R

-/-

+/+

chr15:97515287

chr15:98707562

exon/splice-site

CDS/splice-site

inversion

16034

medium

|Furin-like_cysteine_rich_region(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)

ENSG00000259664.3

ENSG00000140443.15

ENST00000653998.1

ENST00000650285.1

upstream

duplicates(5),mismatches(1)

CTTGGTGGAAGAAGTAATTACATTTTTTTTTCAAATCTCAGAGGAATAATGCTTTTATATTTCCTGCGATGACCCAATTTGCACTACGATATGCTCCCTTAAAT|TCTGCGGGCCAGGCATCGACATCCGCAACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCACATCCTGCTCATCTCCAAGGCCGAGGACTACCGCAGCTACCGCTTCCCCAAGC

LH00995:48:23YTGFLT4:2:2275:22600:4671,LH00995:48:23YTGFLT4:7:2468:18337:8328,LH00995:48:23YTGFLT4:1:1128:45268:19692,LH00995:48:23YTGFLT4:1:1145:14243:18754,LH00995:48:23YTGFLT4:1:1190:13871:11047,LH00995:48:23YTGFLT4:1:1363:31580:19356,LH00995:48:23YTGFLT4:1:2126:5587:24919,LH00995:48:23YTGFLT4:1:2209:11234:27273,LH00995:48:23YTGFLT4:1:2278:21249:24555,LH00995:48:23YTGFLT4:2:1136:35310:2836,LH00995:48:23YTGFLT4:2:1333:38740:7151,LH00995:48:23YTGFLT4:2:2126:25699:24863,LH00995:48:23YTGFLT4:2:2158:12941:12714,LH00995:48:23YTGFLT4:2:2245:24218:26755,LH00995:48:23YTGFLT4:3:2118:17277:8174,LH00995:48:23YTGFLT4:4:1269:51781:2135,LH00995:48:23YTGFLT4:5:1176:30059:4083,LH00995:48:23YTGFLT4:6:1189:22981:9562,LH00995:48:23YTGFLT4:6:1487:28838:24863,LH00995:48:23YTGFLT4:7:1447:3023:5008

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

498

789

medium

out-of-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(22)

GGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGC

ILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgtapslpqqawnqa

LH00995:48:23YTGFLT4:1:1461:30868:15853,LH00995:48:23YTGFLT4:1:2350:46288:27651,LH00995:48:23YTGFLT4:2:1273:19987:10234,LH00995:48:23YTGFLT4:2:1273:19995:10248,LH00995:48:23YTGFLT4:2:2260:4220:7081,LH00995:48:23YTGFLT4:3:1266:47687:21584,LH00995:48:23YTGFLT4:3:1391:44370:18361,LH00995:48:23YTGFLT4:3:2123:49694:26965,LH00995:48:23YTGFLT4:3:2227:23312:9239,LH00995:48:23YTGFLT4:3:2338:5247:27581,LH00995:48:23YTGFLT4:5:1264:42930:7095,LH00995:48:23YTGFLT4:5:1367:14551:4125,LH00995:48:23YTGFLT4:5:1367:14559:4139,LH00995:48:23YTGFLT4:5:1470:46539:25143,LH00995:48:23YTGFLT4:5:2302:16363:22789,LH00995:48:23YTGFLT4:6:2288:6113:18403,LH00995:48:23YTGFLT4:7:1348:2869:7067,LH00995:48:23YTGFLT4:7:1416:14745:9562,LH00995:48:23YTGFLT4:7:2208:16258:19216,LH00995:48:23YTGFLT4:8:1454:41790:22607,LH00995:48:23YTGFLT4:8:2118:20359:8384,LH00995:48:23YTGFLT4:1:1214:21354:8062,LH00995:48:23YTGFLT4:3:2130:21104:20043,LH00995:48:23YTGFLT4:3:2396:51563:18964,LH00995:48:23YTGFLT4:4:2205:16055:26292,LH00995:48:23YTGFLT4:4:2205:6825:24204,LH00995:48:23YTGFLT4:4:2363:16743:15685,LH00995:48:23YTGFLT4:4:2389:44662:28422,LH00995:48:23YTGFLT4:6:1325:19089:3830,LH00995:48:23YTGFLT4:6:2365:6671:19566,LH00995:48:23YTGFLT4:7:1140:47024:1939,LH00995:48:23YTGFLT4:7:1280:34703:27679,LH00995:48:23YTGFLT4:8:1201:3856:3004

CDH3

TANGO6

+/+

chr16:68695923

chr16:68859884

CDS/splice-site

deletion/read-through

456

249

medium

out-of-frame

Cadherin__Y-type_LIR-motif(55%),Cadherin_domain(100%)|Required_for_nuclear_transport_of_RNA_pol_II_C-terminus_1(100%),Required_for_nuclear_transport_of_RNA_pol_II_C-terminus_2(100%)

ENSG00000062038.15

ENSG00000103047.8

ENST00000264012.9

ENST00000261778.2

downstream

upstream

duplicates(9)

GACTATGACATCACCCAGCTCCACCGAGGTCTGGAGGCCAGGCCGGAGGTGGTTCTCCGCAATGACGTGGCACCAACCATCATCCCGACACCCATGTACCGTCCTaGGCCAGCCAACCCAGATGAAATCGGCAACTTTATAATTGAG|GCTCGGGCTCAAGTTCACTACAGGTCACAAAACATGATGTCTTGTTGGCTACTTTAAAATCTAACCTGTCTGCTTTGGAGGACAAGTTTCTG

DYDITQLHRGLEARPEVVLRNDVAPTIIPTPMYRPRPANPDEIGNFIIE|araqvhyrsqnmmscwll*

LH00995:48:23YTGFLT4:2:1212:15594:14676,LH00995:48:23YTGFLT4:2:2152:36022:10991,LH00995:48:23YTGFLT4:3:2136:9551:19090,LH00995:48:23YTGFLT4:3:2146:30391:24415,LH00995:48:23YTGFLT4:6:1212:47663:3270,LH00995:48:23YTGFLT4:6:1214:27794:3354,LH00995:48:23YTGFLT4:6:1216:47056:7628,LH00995:48:23YTGFLT4:6:2242:40940:27834,LH00995:48:23YTGFLT4:7:2471:3710:10711,LH00995:48:23YTGFLT4:8:1367:38667:19692,LH00995:48:23YTGFLT4:8:1454:22366:5778,LH00995:48:23YTGFLT4:1:1185:16970:24485,LH00995:48:23YTGFLT4:1:1312:46676:28044,LH00995:48:23YTGFLT4:1:2132:31969:12966,LH00995:48:23YTGFLT4:2:1479:44783:7081,LH00995:48:23YTGFLT4:3:2321:7173:20715,LH00995:48:23YTGFLT4:4:2224:46450:24569,LH00995:48:23YTGFLT4:6:2408:35552:6815,LH00995:48:23YTGFLT4:8:2121:39897:26502

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

347

736

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(17),mismappers(2)

AAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCACCAGGTTCACTTCTTCCTAAAGCACATCAG___ATTGATAGAGAA

APSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKKPPGSLLPKAHQIDR

LH00995:48:23YTGFLT4:1:1495:7974:25634,LH00995:48:23YTGFLT4:1:2256:9179:16203,LH00995:48:23YTGFLT4:2:1423:24760:20827,LH00995:48:23YTGFLT4:3:1484:19761:14045,LH00995:48:23YTGFLT4:5:1380:38740:18277,LH00995:48:23YTGFLT4:5:2158:29582:26600,LH00995:48:23YTGFLT4:6:2438:35730:8637,LH00995:48:23YTGFLT4:7:2174:45463:5316,LH00995:48:23YTGFLT4:7:2174:45479:5316,LH00995:48:23YTGFLT4:7:2409:4802:8595,LH00995:48:23YTGFLT4:8:2187:23264:22915,LH00995:48:23YTGFLT4:8:2187:23272:22901,LH00995:48:23YTGFLT4:8:2340:23636:10809,LH00995:48:23YTGFLT4:1:2488:46328:17829,LH00995:48:23YTGFLT4:2:1155:40358:10402,LH00995:48:23YTGFLT4:2:2155:50292:14998,LH00995:48:23YTGFLT4:4:1337:10263:5694,LH00995:48:23YTGFLT4:4:2323:4268:21878,LH00995:48:23YTGFLT4:4:2372:46369:27623,LH00995:48:23YTGFLT4:4:2466:33198:25353,LH00995:48:23YTGFLT4:5:1440:7302:13289,LH00995:48:23YTGFLT4:5:1444:19097:15615,LH00995:48:23YTGFLT4:5:2308:43602:11986,LH00995:48:23YTGFLT4:5:2358:45908:14802,LH00995:48:23YTGFLT4:6:2184:8872:20519,LH00995:48:23YTGFLT4:6:2417:1720:20827,LH00995:48:23YTGFLT4:7:2486:14203:21206,LH00995:48:23YTGFLT4:8:2435:39800:18067,LH00995:48:23YTGFLT4:8:2463:38133:28492

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000240764.4

ENST00000619750.1

ENST00000252087.3

downstream

upstream

duplicates(24)

GGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGC?CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAA?AACCAGTTTGACACAGAGATGCTGCAAGCCATGA

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

LH00995:48:23YTGFLT4:1:1202:9430:26334,LH00995:48:23YTGFLT4:2:1218:36976:21332,LH00995:48:23YTGFLT4:2:2326:33700:17394,LH00995:48:23YTGFLT4:3:1198:18191:9562,LH00995:48:23YTGFLT4:3:2284:47582:1252,LH00995:48:23YTGFLT4:4:1159:47275:4391,LH00995:48:23YTGFLT4:5:1351:44209:8833,LH00995:48:23YTGFLT4:5:2356:22131:3999,LH00995:48:23YTGFLT4:7:2307:7294:4363,LH00995:48:23YTGFLT4:8:1197:45179:25479,LH00995:48:23YTGFLT4:8:1312:31766:16820,LH00995:48:23YTGFLT4:8:1493:31774:29193,LH00995:48:23YTGFLT4:8:1493:31791:29193,LH00995:48:23YTGFLT4:8:2143:35366:12322,LH00995:48:23YTGFLT4:8:2286:34379:10949,LH00995:48:23YTGFLT4:1:1332:5336:22915,LH00995:48:23YTGFLT4:2:2365:33101:26418,LH00995:48:23YTGFLT4:2:2402:16864:3676,LH00995:48:23YTGFLT4:3:1294:4859:16904,LH00995:48:23YTGFLT4:3:1466:39072:14704,LH00995:48:23YTGFLT4:3:2370:39614:19034,LH00995:48:23YTGFLT4:4:2180:15182:11271,LH00995:48:23YTGFLT4:5:1481:45002:12728,LH00995:48:23YTGFLT4:6:2123:50600:1546,LH00995:48:23YTGFLT4:6:2158:6485:25690,LH00995:48:23YTGFLT4:6:2332:17949:9393,LH00995:48:23YTGFLT4:6:2487:28765:15405,LH00995:48:23YTGFLT4:6:2487:28781:15405,LH00995:48:23YTGFLT4:7:1102:25254:7810,LH00995:48:23YTGFLT4:8:1190:26168:21108,LH00995:48:23YTGFLT4:8:1289:39897:22915,LH00995:48:23YTGFLT4:8:1435:32179:18263

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000253305.2

ENST00000619750.1

ENST00000520790.1

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000253767.3

ENST00000619750.1

ENST00000398604.3

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000253846.2

ENST00000619750.1

ENST00000398610.2

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000242419.5

ENST00000619750.1

ENST00000306593.1

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000253873.6

ENST00000619750.1

ENST00000398587.7

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000261934.2

ENST00000619750.1

ENST00000573521.1

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000254122.3

ENST00000619750.1

ENST00000398594.4

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000240184.7

ENST00000619750.1

ENST00000308177.5

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

medium

in-frame

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

ENSG00000254245.3

ENSG00000253159.3

ENST00000619750.1

ENST00000252085.4

downstream

upstream

duplicates(24)

VSLTADSRKSHLIFPQ?NYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP?NQFDTEMLQAM

PCDHA6

PCDHAC1

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

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(15)

CCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTA

PKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPT

LH00995:48:23YTGFLT4:4:1486:7618:14900,LH00995:48:23YTGFLT4:4:2477:46037:22873,LH00995:48:23YTGFLT4:5:2241:26856:14844,LH00995:48:23YTGFLT4:5:2413:4357:12784,LH00995:48:23YTGFLT4:6:2457:17220:24330,LH00995:48:23YTGFLT4:7:1302:38796:14844,LH00995:48:23YTGFLT4:8:1433:38756:17605,LH00995:48:23YTGFLT4:8:2354:2804:18305,LH00995:48:23YTGFLT4:1:1267:40819:25437,LH00995:48:23YTGFLT4:2:2117:12771:6339,LH00995:48:23YTGFLT4:3:1119:48092:29291,LH00995:48:23YTGFLT4:3:1464:40892:4405,LH00995:48:23YTGFLT4:4:2133:35447:20085,LH00995:48:23YTGFLT4:6:1242:12027:9982,LH00995:48:23YTGFLT4:6:1444:1049:5848,LH00995:48:23YTGFLT4:6:1444:1057:5862,LH00995:48:23YTGFLT4:6:2491:46013:12966,LH00995:48:23YTGFLT4:7:1196:10506:8020,LH00995:48:23YTGFLT4:7:2160:47396:6395,LH00995:48:23YTGFLT4:7:2215:19866:10052,LH00995:48:23YTGFLT4:7:2250:10166:17745,LH00995:48:23YTGFLT4:7:2352:32430:22621

CHD2

ADAM10

+/+

-/-

chr15:92901299

chr15:58665197

CDS/splice-site

inversion

4399

1182

medium

out-of-frame

|Disintegrin(100%),Metallo-peptidase_family_M12B_Reprolysin-like(100%)

ENSG00000173575.22

ENSG00000137845.15

ENST00000394196.9

ENST00000260408.8

downstream

duplicates(12)

TGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAG|ACTATCCCCATAAATACGGTCCTCAGGGGGGCTGTGCAGATCATTCAGTATTTGAAAGAATGAGGAAATACCAGATGACTGGTGTAGAGGAAGTAAC

MMRNKDKSQEEDSSLHSNASr|lsp*

LH00995:48:23YTGFLT4:2:1155:9931:12602,LH00995:48:23YTGFLT4:4:1418:27875:13555,LH00995:48:23YTGFLT4:5:2243:14769:15853,LH00995:48:23YTGFLT4:6:2269:3023:12378,LH00995:48:23YTGFLT4:1:1272:21476:17212,LH00995:48:23YTGFLT4:1:1413:34307:7516,LH00995:48:23YTGFLT4:2:1315:32171:15251,LH00995:48:23YTGFLT4:2:1388:1801:9001,LH00995:48:23YTGFLT4:2:2170:14826:11215,LH00995:48:23YTGFLT4:3:1407:2141:2976,LH00995:48:23YTGFLT4:4:1179:11015:27203,LH00995:48:23YTGFLT4:4:1483:3459:29053,LH00995:48:23YTGFLT4:5:1390:31782:11832,LH00995:48:23YTGFLT4:5:1390:31799:11832,LH00995:48:23YTGFLT4:6:1196:2691:14354,LH00995:48:23YTGFLT4:6:1255:9883:21766,LH00995:48:23YTGFLT4:6:1255:9899:21766,LH00995:48:23YTGFLT4:6:2109:27940:17086,LH00995:48:23YTGFLT4:8:2410:12698:13807

ADAM10

CHD2

-/-

+/+

chr15:58621471

chr15:92901167

CDS/splice-site

5'UTR/splice-site

inversion

1848

2017

medium

out-of-frame

Disintegrin(48%),Metallo-peptidase_family_M12B_Reprolysin-like(100%),Reprolysin_family_propeptide(100%)|CDH1/2_SANT-Helical_linker_1(100%),Chromo_(CHRromatin_Organisation_MOdifier)_domain(100%),Domain_of_unknown_function_(DUF4208)(100%),Helicase_conserved_C-terminal_domain(100%),SNF2-related_domain(100%)

ENSG00000137845.15

ENSG00000173575.22

ENST00000260408.8

ENST00000394196.9

upstream

duplicates(3),mismappers(1)

GGTAGAACAAGGTGAAGAATGTGATTGTGGCTATAGTGACCAGTGTAAAGATGAATGCTGCTTCGATGCAAATCAACCAGAGGGAAGAAAATGCAAACTGAAACCTGGGAAACAGTGCAG|TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCC

VEQGEECDCGYSDQCKDECCFDANQPEGRKCKLKPGKQCs|kylgtglqskhrfp

LH00995:48:23YTGFLT4:1:1497:28474:22831,LH00995:48:23YTGFLT4:4:1216:3095:2079,LH00995:48:23YTGFLT4:4:2371:35528:20029,LH00995:48:23YTGFLT4:6:2333:38222:13205,LH00995:48:23YTGFLT4:8:1227:31224:3550,LH00995:48:23YTGFLT4:8:2109:7642:17997

CHD2

ADAM10

+/+

-/-

chr15:92905008

chr15:58665197

CDS/splice-site

inversion

1676

1182

medium

out-of-frame

|Disintegrin(100%),Metallo-peptidase_family_M12B_Reprolysin-like(100%)

ENSG00000173575.22

ENSG00000137845.15

ENST00000626782.2

ENST00000260408.8

downstream

duplicates(2),mismatches(1)

GGATACTTTTATTTTAGTGAAAACCTCTTGACGGGTGTTAACAGCTGTTTAATACATGGCTCATAAACAAAGGGAAGATTATTTGAACTTGTCCCCATGCGTTTTTACTTGGTACCGTACATTTTCTCAGTTGGCATTTGATGGAGAAAAACTCAG|ACTATCCCCATAAATACGGTCCTCAGGGGGGCTGTGCAGATCATTCAGTATTTGAAAGAATGAGGAAATAC?AGATGACTGGTGTAGAGGAA

MAHKQREDYLNLSPCVFTWYRTFSQLAFDGEKLr|lsp*

LH00995:48:23YTGFLT4:2:2205:43003:12714,LH00995:48:23YTGFLT4:2:2358:36216:8693,LH00995:48:23YTGFLT4:5:2273:39808:11103,LH00995:48:23YTGFLT4:7:2414:43780:9379,LH00995:48:23YTGFLT4:8:1452:39330:3438

ADAM10

CHD2

-/-

+/+

chr15:58627700

chr15:92901167

CDS/splice-site

5'UTR/splice-site

inversion

885

2017

low

out-of-frame

Metallo-peptidase_family_M12B_Reprolysin-like(100%),Reprolysin_family_propeptide(100%)|CDH1/2_SANT-Helical_linker_1(100%),Chromo_(CHRromatin_Organisation_MOdifier)_domain(100%),Domain_of_unknown_function_(DUF4208)(100%),Helicase_conserved_C-terminal_domain(100%),SNF2-related_domain(100%)

ENSG00000137845.15

ENSG00000173575.22

ENST00000260408.8

ENST00000394196.9

upstream

duplicates(1)

GAGCAACATCTGGGGACAAACTTAACAACAATAAATTCTCACTCTGTAGTATTAGAAATATAAGCCAAGTTCTTGAGAAGAAGAGAAACAACTGTTTTGTTG|TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCT

ATSGDKLNNNKFSLCSIRNISQVLEKKRNNCFV|vntwaqdfkantdsp

LH00995:48:23YTGFLT4:3:2382:17682:10360,LH00995:48:23YTGFLT4:8:1497:29380:8539

ADAM10

CHD2

-/-

+/+

chr15:58633196

chr15:92901167

CDS/splice-site

5'UTR/splice-site

inversion

1066

2017

low

out-of-frame

Metallo-peptidase_family_M12B_Reprolysin-like(73%),Reprolysin_family_propeptide(100%)|CDH1/2_SANT-Helical_linker_1(100%),Chromo_(CHRromatin_Organisation_MOdifier)_domain(100%),Domain_of_unknown_function_(DUF4208)(100%),Helicase_conserved_C-terminal_domain(100%),SNF2-related_domain(100%)

ENSG00000137845.15

ENSG00000173575.22

ENST00000260408.8

ENST00000394196.9

upstream

CATAACTTTGGATCCCCA|TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCtTTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAAT

HNFGSP|*

LH00995:48:23YTGFLT4:3:2377:51004:10346

ADAM10

CHD2

-/-

+/+

chr15:58640777

chr15:92901167

CDS/splice-site

5'UTR/splice-site

inversion

2321

2017

low

out-of-frame

Metallo-peptidase_family_M12B_Reprolysin-like(46%),Reprolysin_family_propeptide(100%)|CDH1/2_SANT-Helical_linker_1(100%),Chromo_(CHRromatin_Organisation_MOdifier)_domain(100%),Domain_of_unknown_function_(DUF4208)(100%),Helicase_conserved_C-terminal_domain(100%),SNF2-related_domain(100%)

ENSG00000137845.15

ENSG00000173575.22

ENST00000260408.8

ENST00000394196.9

upstream

GGCGTACTTGGTCTGGCTTGGGTTGGAGCACCTTCAG|TAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAA

GVLGLAWVGAPS|vntwaqdfkantdspsplifkn*

LH00995:48:23YTGFLT4:5:1358:45171:26362

PCDHA6

PCDHAC2

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

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(15)

PKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPT

PCDHA6

PCDHA13

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

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(15)

PKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPT

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

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

17016

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(13),mismatches(1)

GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGG___GCCAAAGAAGCCCAGGATGACCTGGTGAAGACCA

LH00995:48:23YTGFLT4:1:2453:25310:3256,LH00995:48:23YTGFLT4:2:1229:4293:9926,LH00995:48:23YTGFLT4:2:1321:12391:2373,LH00995:48:23YTGFLT4:2:2364:17957:2317,LH00995:48:23YTGFLT4:3:1360:41207:21318,LH00995:48:23YTGFLT4:3:1389:18199:3887,LH00995:48:23YTGFLT4:3:2168:13564:28422,LH00995:48:23YTGFLT4:4:1310:7480:27525,LH00995:48:23YTGFLT4:4:1456:10312:22789,LH00995:48:23YTGFLT4:4:2198:30310:26012,LH00995:48:23YTGFLT4:5:2444:18410:18712,LH00995:48:23YTGFLT4:5:2458:27535:4447,LH00995:48:23YTGFLT4:6:1211:23320:17324,LH00995:48:23YTGFLT4:6:2349:14955:10234,LH00995:48:23YTGFLT4:7:1419:44120:28912,LH00995:48:23YTGFLT4:7:1497:42655:5414,LH00995:48:23YTGFLT4:7:1497:42672:5414,LH00995:48:23YTGFLT4:8:1260:10206:25914,LH00995:48:23YTGFLT4:8:1281:19478:27567,LH00995:48:23YTGFLT4:8:2336:43392:3690,LH00995:48:23YTGFLT4:8:2462:43416:17184

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:1:1173:40366:21430,LH00995:48:23YTGFLT4:1:1219:48197:23139,LH00995:48:23YTGFLT4:1:1354:49572:9688,LH00995:48:23YTGFLT4:2:1477:46676:21766,LH00995:48:23YTGFLT4:2:2465:50381:27455,LH00995:48:23YTGFLT4:3:1285:29113:28338,LH00995:48:23YTGFLT4:3:2203:51870:21486,LH00995:48:23YTGFLT4:3:2376:45584:15447,LH00995:48:23YTGFLT4:3:2470:22180:11621,LH00995:48:23YTGFLT4:4:1371:41434:21346,LH00995:48:23YTGFLT4:4:1411:37340:13695,LH00995:48:23YTGFLT4:4:1471:42930:29655,LH00995:48:23YTGFLT4:5:1203:14535:22481,LH00995:48:23YTGFLT4:5:1249:20109:11817,LH00995:48:23YTGFLT4:5:1481:18102:14788,LH00995:48:23YTGFLT4:5:2456:19291:12252,LH00995:48:23YTGFLT4:5:2493:9486:28618,LH00995:48:23YTGFLT4:7:1152:25796:25059,LH00995:48:23YTGFLT4:7:1421:31580:5008,LH00995:48:23YTGFLT4:7:2435:18863:21654,LH00995:48:23YTGFLT4:8:1259:31823:26110,LH00995:48:23YTGFLT4:3:2192:3945:3410,LH00995:48:23YTGFLT4:5:1253:48359:7810,LH00995:48:23YTGFLT4:8:1163:49710:1210

PCDHA11

PCDHAC1

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

141

523

medium

in-frame

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

ENSG00000249158.7

ENSG00000248383.5

ENST00000616325.1

ENST00000253807.3

downstream

upstream

duplicates(28),low_entropy(2)

GTGTGCTCTGAGGAGGGCCCACCTAAGACGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCcACGG

VCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGIp

LH00995:48:23YTGFLT4:1:2364:19567:19538,LH00995:48:23YTGFLT4:1:2417:14802:24429,LH00995:48:23YTGFLT4:2:1346:51611:6185,LH00995:48:23YTGFLT4:2:1346:51627:6185,LH00995:48:23YTGFLT4:2:1460:49621:15657,LH00995:48:23YTGFLT4:2:1460:50179:16119,LH00995:48:23YTGFLT4:2:2216:34938:22677,LH00995:48:23YTGFLT4:3:1220:33150:11481,LH00995:48:23YTGFLT4:3:1331:35803:3074,LH00995:48:23YTGFLT4:3:1331:35819:3074,LH00995:48:23YTGFLT4:3:1331:35836:3074,LH00995:48:23YTGFLT4:3:2234:37405:14368,LH00995:48:23YTGFLT4:3:2262:14446:5260,LH00995:48:23YTGFLT4:4:1315:39864:9463,LH00995:48:23YTGFLT4:4:1315:39872:9477,LH00995:48:23YTGFLT4:4:2252:6097:5708,LH00995:48:23YTGFLT4:4:2418:51271:6185,LH00995:48:23YTGFLT4:5:1129:24065:15811,LH00995:48:23YTGFLT4:5:1129:24073:15797,LH00995:48:23YTGFLT4:5:2358:35827:20043,LH00995:48:23YTGFLT4:5:2478:51118:5162,LH00995:48:23YTGFLT4:6:1489:1760:3326,LH00995:48:23YTGFLT4:6:2120:32502:11593,LH00995:48:23YTGFLT4:7:1280:36030:6577,LH00995:48:23YTGFLT4:7:2133:9713:5358,LH00995:48:23YTGFLT4:7:2160:30731:27806,LH00995:48:23YTGFLT4:7:2201:12528:29347,LH00995:48:23YTGFLT4:7:2201:12536:29333,LH00995:48:23YTGFLT4:7:2213:34015:6731,LH00995:48:23YTGFLT4:8:1176:2400:3032,LH00995:48:23YTGFLT4:8:1268:5846:22060,LH00995:48:23YTGFLT4:8:2145:1769:8356,LH00995:48:23YTGFLT4:5:2169:51635:17661,LH00995:48:23YTGFLT4:7:1213:41345:26208,LH00995:48:23YTGFLT4:7:1398:10846:17885,LH00995:48:23YTGFLT4:8:1165:23248:1617

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHA11

PCDHAC2

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

141

523

medium

in-frame

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

ENSG00000249158.7

ENSG00000243232.6

ENST00000616325.1

ENST00000289269.7

downstream

upstream

duplicates(28),low_entropy(2)

VCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGIp

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHA11

PCDHA13

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

141

523

medium

in-frame

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

ENSG00000249158.7

ENSG00000239389.8

ENST00000616325.1

ENST00000289272.3

downstream

upstream

duplicates(28),low_entropy(2)

VCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGIp

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

6092

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(17),low_entropy(1)

CGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

LISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

1791

450

medium

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(4)

CCATTTCTACCTGCCACGTATCGGCGAAGGTTGGGACTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CTTAAAGGAAGAAAAAATCATCATAGTAAAAGAATTTGAGAAGATAACAAAGCCAGG

LH00995:48:23YTGFLT4:1:1390:14713:26264,LH00995:48:23YTGFLT4:2:1465:3694:9926,LH00995:48:23YTGFLT4:2:2489:23749:26334,LH00995:48:23YTGFLT4:3:1374:39711:22425,LH00995:48:23YTGFLT4:3:1374:39719:22439,LH00995:48:23YTGFLT4:3:2426:14009:12714,LH00995:48:23YTGFLT4:3:2426:7254:19678,LH00995:48:23YTGFLT4:4:2289:48610:2275,LH00995:48:23YTGFLT4:5:1454:39468:9702,LH00995:48:23YTGFLT4:8:1249:12108:19847

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

1791

483

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(1),mismatches(2),multimappers(1)

CTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCGGTTTGTTGATTTATCTGAAACTCCA

LH00995:48:23YTGFLT4:2:1291:37421:5708,LH00995:48:23YTGFLT4:2:2366:6841:25690,LH00995:48:23YTGFLT4:3:1466:9041:6325,LH00995:48:23YTGFLT4:7:2116:41733:20996

PMS2P8

CCDC146

+/+

chr7:73044560

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

887

450

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(4),mismatches(1),multimappers(3)

GGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGcTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG

LH00995:48:23YTGFLT4:5:1334:27301:7432,LH00995:48:23YTGFLT4:5:1334:27309:7418,LH00995:48:23YTGFLT4:8:2473:38392:19524,LH00995:48:23YTGFLT4:8:2473:38392:19524,LH00995:48:23YTGFLT4:8:2473:38408:19524,LH00995:48:23YTGFLT4:8:2473:38408:19524,LH00995:48:23YTGFLT4:6:2375:23215:2093,LH00995:48:23YTGFLT4:8:1101:17892:29221

SLCO3A1

IGF1R

+/+

chr15:91916458

chr15:98891325

CDS/splice-site

deletion

299

13587

medium

in-frame

Organic_Anion_Transporter_Polypeptide_(OATP)_family(25%)|Furin-like_cysteine_rich_region(75%),Protein_kinase_domain(100%),Receptor_L_domain(49%)

ENSG00000176463.14

ENSG00000140443.15

ENST00000424469.2

ENST00000650285.1

downstream

upstream

duplicates(13)

GGCTACCAACATGATGTACTTGCTGCTCATTGGGGCCCAGGTGCTCCTGGGCATCGGTGCTACCCCTGTGCAGCCCCTGGGCGTCTCCTACATCGACGACCACGTGCGGAGGAAGGACTCCTCGCTCTATATAG|TGTGCCCAAGCACGTGTGGGAAGCGGGCGTGCACCGAGAACAATGAGTGCTGCCACCCCGAGTGCCTGGGCAGCTGCAGCGCGCCTGACAACGACACGGCCTGTGTAGCTTGCCGCCACT

ATNMMYLLLIGAQVLLGIGATPVQPLGVSYIDDHVRRKDSSLYI|vCPSTCGKRACTENNECCHPECLGSCSAPDNDTACVACRH

LH00995:48:23YTGFLT4:7:1431:40342:6983,LH00995:48:23YTGFLT4:7:2130:39266:4867,LH00995:48:23YTGFLT4:1:1122:40957:29151,LH00995:48:23YTGFLT4:1:2144:37987:23700,LH00995:48:23YTGFLT4:1:2234:23256:13569,LH00995:48:23YTGFLT4:1:2234:23264:13555,LH00995:48:23YTGFLT4:4:1134:11347:18585,LH00995:48:23YTGFLT4:4:1134:21581:18263,LH00995:48:23YTGFLT4:4:1134:21589:18249,LH00995:48:23YTGFLT4:5:2263:25027:22523,LH00995:48:23YTGFLT4:6:2159:6186:5582,LH00995:48:23YTGFLT4:7:1266:4171:23055,LH00995:48:23YTGFLT4:7:1337:14996:17142,LH00995:48:23YTGFLT4:7:1337:15012:17142,LH00995:48:23YTGFLT4:7:1464:1186:24050,LH00995:48:23YTGFLT4:7:2470:36968:22411,LH00995:48:23YTGFLT4:7:2470:36976:22425,LH00995:48:23YTGFLT4:8:2237:33967:14382,LH00995:48:23YTGFLT4:8:2254:3500:2331

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

ATTTTCCCCCAGC?CAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAG

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

LH00995:48:23YTGFLT4:1:1172:20489:4349,LH00995:48:23YTGFLT4:2:1314:20084:5190,LH00995:48:23YTGFLT4:2:1381:42089:12532,LH00995:48:23YTGFLT4:2:1381:42097:12546,LH00995:48:23YTGFLT4:2:2121:34290:15587,LH00995:48:23YTGFLT4:3:1221:10465:18235,LH00995:48:23YTGFLT4:3:1421:25642:3242,LH00995:48:23YTGFLT4:5:1106:44799:25185,LH00995:48:23YTGFLT4:6:1224:4018:21780,LH00995:48:23YTGFLT4:6:2334:33829:9463,LH00995:48:23YTGFLT4:6:2450:47186:27133,LH00995:48:23YTGFLT4:6:2464:7440:18375,LH00995:48:23YTGFLT4:7:2392:24833:9323,LH00995:48:23YTGFLT4:8:2430:34913:7502,LH00995:48:23YTGFLT4:3:1112:23417:2079,LH00995:48:23YTGFLT4:3:1171:20189:7474,LH00995:48:23YTGFLT4:3:1363:44338:25031,LH00995:48:23YTGFLT4:7:1253:35900:13611,LH00995:48:23YTGFLT4:7:1396:20173:20113,LH00995:48:23YTGFLT4:8:2171:10829:23966

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GGCGTGGAAGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGG

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

LH00995:48:23YTGFLT4:2:1378:24485:2023,LH00995:48:23YTGFLT4:2:2352:44775:12504,LH00995:48:23YTGFLT4:3:2103:45705:1504,LH00995:48:23YTGFLT4:3:2104:49451:25451,LH00995:48:23YTGFLT4:4:1424:40859:29319,LH00995:48:23YTGFLT4:5:1456:47356:10584,LH00995:48:23YTGFLT4:7:2337:50454:14045,LH00995:48:23YTGFLT4:7:2497:34541:10865,LH00995:48:23YTGFLT4:8:1369:15481:21038,LH00995:48:23YTGFLT4:8:1428:20456:2023,LH00995:48:23YTGFLT4:8:1428:20473:2023,LH00995:48:23YTGFLT4:5:1395:14114:10542,LH00995:48:23YTGFLT4:5:2497:16533:18852,LH00995:48:23YTGFLT4:7:2495:10360:24779

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

110

6092

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(14),mismappers(1)

IFPQ?NYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

126

6092

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(9)

GVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDT

AC092666.2

ACTR3B

-/-

+/+

chr7:150047609

chr7:152783187

exon

CDS/splice-site

inversion

551

medium

|Actin(97%)

ENSG00000276538.1

ENSG00000133627.18

ENST00000613287.1

ENST00000256001.13

upstream

duplicates(4)

CCGGCCCCGGTTCCAGTACCAGGCGCGGAGCGATGGTGACAAGGAGGAC|GTATACCAAGCTTGGCTACGCAGGCAACACTGAGCCCCAGTTCATTATTCCTTCATGTA

LH00995:48:23YTGFLT4:1:2231:1405:5204,LH00995:48:23YTGFLT4:1:2240:34776:17408,LH00995:48:23YTGFLT4:4:1266:3273:10767,LH00995:48:23YTGFLT4:5:1463:40455:27946,LH00995:48:23YTGFLT4:5:2358:48602:25886,LH00995:48:23YTGFLT4:6:1413:1283:13821,LH00995:48:23YTGFLT4:7:2320:19194:10654,LH00995:48:23YTGFLT4:8:2498:2400:27273

LRRC28

AC126323.2

+/+

-/-

chr15:99256125

chr15:62216747

CDS/splice-site

intron

inversion

461

medium

out-of-frame

Leucine_rich_repeat(12%)|

ENSG00000168904.15

ENSG00000259697.2

ENST00000301981.8

downstream

duplicates(7)

TCTGTGGCAAGGCTAGAAAAGCACAAGAATTTGTTCTTAAATTATAGGAATCTGCACCATTTTCCATTGGAGTTACTGAAAGATGAGGGACTGCAGTACTTGGAGAGACTCTATATGAAAAGGAACTCCCTGACATCCTTG|CCCCCATGGCCTGGTGTTGGGTCCGATCACCCCAACGTTCATGGCGCCCAATGTGGGGCAAAGAAG

SVARLEKHKNLFLNYRNLHHFPLELLKDEGLQYLERLYMKRNSLTSL|ppwpgvgsdhpnvhgaqcgak

LH00995:48:23YTGFLT4:1:1312:42105:10010,LH00995:48:23YTGFLT4:1:2412:3775:27525,LH00995:48:23YTGFLT4:2:2278:24890:10795,LH00995:48:23YTGFLT4:3:2173:8774:27189,LH00995:48:23YTGFLT4:4:2138:1680:23252,LH00995:48:23YTGFLT4:6:1238:3662:16063,LH00995:48:23YTGFLT4:6:2262:24558:19384,LH00995:48:23YTGFLT4:7:1324:33053:5680,LH00995:48:23YTGFLT4:7:1355:19672:28520,LH00995:48:23YTGFLT4:8:1183:23482:1659

LRRC28

AC126323.2

+/+

-/-

chr15:99256125

chr15:62196762

CDS/splice-site

exon/splice-site

inversion

461

low

out-of-frame

Leucine_rich_repeat(12%)|

ENSG00000168904.15

ENSG00000259697.2

ENST00000301981.8

ENST00000657134.1

downstream

TGTAAGACGATCTCTGTGGCAAGGCTAGAAAAGCACAAGAATTTGTTCTTAAATTATAGGAATCTGCACCATTTTCCATTGGAGTTACTGAAAGATGAGGGACTGCAGTACTTGGAGAGACTCTATATGAAAAGGAACTCCCTGACATCCTTG|GTCCCATTCCAGGAGGCTTTTCATATAGAAGATGAGTGGACACCAACTAGAGACACTGGAG

CKTISVARLEKHKNLFLNYRNLHHFPLELLKDEGLQYLERLYMKRNSLTSL|vpfqeafhiedewtptrdtg

LH00995:48:23YTGFLT4:5:2493:45786:9071,LH00995:48:23YTGFLT4:6:2418:32187:28814

AP003049.2

FOXO6

-/-

+/+

chr11:109422146

chr1:41382204

intron

CDS/splice-site

translocation

189

medium

ENSG00000255028.5

ENSG00000204060.7

ENST00000641094.1

upstream

duplicates(15),mismatches(5)

CCGCGCTGCTGCCGCCGCCGCCGCC|CGCGCCCAGGCCCGGCCCGGTGCTGGGTGCGCCGGGGGAGCTGGCGCTGGCGGGCGCAGCCGCCGCCTACCCCGGCAAAGGGGCGGCCCCGTAtGCGCCGC

LH00995:48:23YTGFLT4:1:1322:13070:15573,LH00995:48:23YTGFLT4:1:2229:39395:5568,LH00995:48:23YTGFLT4:1:2246:19429:8567,LH00995:48:23YTGFLT4:2:1136:21613:5792,LH00995:48:23YTGFLT4:2:2230:44362:4335,LH00995:48:23YTGFLT4:3:1360:27648:21710,LH00995:48:23YTGFLT4:3:2224:19542:17619,LH00995:48:23YTGFLT4:4:1121:20618:25003,LH00995:48:23YTGFLT4:4:2381:45042:15405,LH00995:48:23YTGFLT4:5:1326:47340:18543,LH00995:48:23YTGFLT4:6:2148:28538:27651,LH00995:48:23YTGFLT4:7:1101:10708:18515,LH00995:48:23YTGFLT4:7:1228:50462:10332,LH00995:48:23YTGFLT4:7:1261:23110:2023,LH00995:48:23YTGFLT4:7:1281:9074:23868,LH00995:48:23YTGFLT4:7:1368:29849:15208,LH00995:48:23YTGFLT4:7:1368:29865:15208,LH00995:48:23YTGFLT4:7:2153:30019:4994,LH00995:48:23YTGFLT4:7:2158:15530:15629,LH00995:48:23YTGFLT4:7:2232:49718:7446,LH00995:48:23YTGFLT4:7:2322:41507:7095,LH00995:48:23YTGFLT4:8:2280:30876:12840,LH00995:48:23YTGFLT4:8:2322:5474:29207

PCDHA2

PCDHAC1

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

523

medium

stop-codon

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

ENSG00000204969.7

ENSG00000248383.5

ENST00000520672.2

ENST00000253807.3

downstream

upstream

duplicates(12)

CAAGACGGACCTCATGGCCTTCAGCCCTAGCTTATCTtAAGGTCCAGACTCCGCAGAAGAGAAACAGCTCTCAGAATCAGAATACGTAGGAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTG

LH00995:48:23YTGFLT4:1:1144:41369:14704,LH00995:48:23YTGFLT4:1:1454:40770:10332,LH00995:48:23YTGFLT4:3:1411:44281:23672,LH00995:48:23YTGFLT4:5:2174:9737:29109,LH00995:48:23YTGFLT4:8:1143:11946:22341,LH00995:48:23YTGFLT4:8:1143:11962:22341,LH00995:48:23YTGFLT4:8:1406:50762:18978,LH00995:48:23YTGFLT4:1:1204:6064:14816,LH00995:48:23YTGFLT4:2:1206:19615:10234,LH00995:48:23YTGFLT4:3:2351:12666:16414,LH00995:48:23YTGFLT4:3:2463:45139:10416,LH00995:48:23YTGFLT4:4:1388:2513:6871,LH00995:48:23YTGFLT4:4:1470:19963:24288,LH00995:48:23YTGFLT4:4:2250:51732:26152,LH00995:48:23YTGFLT4:6:1327:47340:15321

PCDHA3

PCDHAC1

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

medium

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(7)

CCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGAGGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGG

KTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPG

LH00995:48:23YTGFLT4:2:2234:51862:15475,LH00995:48:23YTGFLT4:4:2381:35302:22971,LH00995:48:23YTGFLT4:5:2251:16678:21262,LH00995:48:23YTGFLT4:6:2257:41628:17871,LH00995:48:23YTGFLT4:8:2438:5191:22887,LH00995:48:23YTGFLT4:2:2401:36871:22187,LH00995:48:23YTGFLT4:4:2264:44686:5316,LH00995:48:23YTGFLT4:7:1331:27293:21710,LH00995:48:23YTGFLT4:8:2472:21516:8707,LH00995:48:23YTGFLT4:8:2478:33344:16385

PCDHA5

PCDHAC1

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

medium

in-frame

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

ENSG00000204965.9

ENSG00000248383.5

ENST00000614258.1

ENST00000253807.3

downstream

upstream

duplicates(13)

AGGGTGTGCTCTGGGGAAGCTCCACCCAAAACAGACCTCATGGCCTTCAGTCCAAGCCTTCCTCAGGGTCCCACCTCTACAGACAAC|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCC

RVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

LH00995:48:23YTGFLT4:2:1269:2642:16484,LH00995:48:23YTGFLT4:6:2282:2658:10935,LH00995:48:23YTGFLT4:1:2496:2658:17969,LH00995:48:23YTGFLT4:2:1116:43974:8427,LH00995:48:23YTGFLT4:2:1403:14963:25353,LH00995:48:23YTGFLT4:2:2137:40625:27567,LH00995:48:23YTGFLT4:2:2178:8111:11775,LH00995:48:23YTGFLT4:3:2370:27268:25031,LH00995:48:23YTGFLT4:3:2435:43464:13317,LH00995:48:23YTGFLT4:4:1320:40989:24779,LH00995:48:23YTGFLT4:5:1376:7707:27133,LH00995:48:23YTGFLT4:5:2363:41571:1575,LH00995:48:23YTGFLT4:5:2391:34525:12798,LH00995:48:23YTGFLT4:6:2195:22123:24919,LH00995:48:23YTGFLT4:6:2312:50665:16568,LH00995:48:23YTGFLT4:7:1359:36386:12910

PCDHA2

PCDHAC2

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

523

medium

stop-codon

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

ENSG00000204969.7

ENSG00000243232.6

ENST00000520672.2

ENST00000289269.7

downstream

upstream

duplicates(12)

CASTOR2

AC211433.1

+/+

-/+

chr7:74965098

chr7:74728789

CDS/splice-site

exon

duplication/5'-5'

1365

5871

medium

out-of-frame

Cytosolic_arginine_sensor_for_mTORC1_subunit_1_N-terminal_domain(48%)|

ENSG00000274070.2

ENSG00000232729.8

ENST00000616305.2

downstream

upstream

duplicates(5),multimappers(1)

GCGGGCGGACGATGGAACTCCACATCCTGGAGCACCGGCTGCAAGTTGCCAGCGTCGCCAAGGAGAGTATCCCGCTGTTCACCTACGGCCTGATCAAACTTGCCTTCCTGTCCTCCAAGACCAG|ATGATTATTCTCCACCGTCTAAGAGACCAAAGGCCAATGAGCTACCGCAGCCACCAGTCCCGGAACCCGCCAATGCTGGGA

MELHILEHRLQVASVAKESIPLFTYGLIKLAFLSSKTr|*

LH00995:48:23YTGFLT4:1:2146:4333:19132,LH00995:48:23YTGFLT4:6:1331:25537:18473,LH00995:48:23YTGFLT4:7:2276:20497:20589,LH00995:48:23YTGFLT4:1:2320:40576:19440,LH00995:48:23YTGFLT4:2:1413:46150:9646,LH00995:48:23YTGFLT4:3:2227:12674:5974,LH00995:48:23YTGFLT4:5:1371:7197:28800,LH00995:48:23YTGFLT4:5:2277:2553:10276,LH00995:48:23YTGFLT4:5:2277:40560:18319

PCDHA3

PCDHAC2

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

medium

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(7)

KTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPG

PCDHA5

PCDHAC2

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

medium

in-frame

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

ENSG00000204965.9

ENSG00000243232.6

ENST00000614258.1

ENST00000289269.7

downstream

upstream

duplicates(13)

RVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

PCDHA2

PCDHA13

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

523

medium

stop-codon

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

ENSG00000204969.7

ENSG00000239389.8

ENST00000520672.2

ENST00000289272.3

downstream

upstream

duplicates(12)

PCDHA3

PCDHA13

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

medium

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(7)

KTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPG

PCDHA5

PCDHA13

+/+

chr5:140824127

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

523

medium

in-frame

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

ENSG00000204965.9

ENSG00000239389.8

ENST00000614258.1

ENST00000289272.3

downstream

upstream

duplicates(13)

RVCSGEAPPKTDLMAFSPSLPQGPTSTDN|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV

SLFN11

SLFN12

-/-

chr17:35353336

chr17:35433062

CDS/splice-site

5'UTR

duplication

1067

medium

out-of-frame

Putative_DNA-binding_domain(100%),Schlafen_group_3__DNA/RNA_helicase_domain(56%)|Putative_DNA-binding_domain(100%)

ENSG00000172716.16

ENSG00000172123.13

ENST00000394566.5

ENST00000452764.3

upstream

downstream

duplicates(2)

CCACGGCTTACCTGGCTCAGGGAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACGTTTGTGAAAACCAGCCTCTGAGGAACTTTATCAG|AAAATACACATGGGTGAAAAAGAAACGAGAGC

HGLPGSGKTIMAMKIMEKIRNVFHCEAHRILYVCENQPLRNFIr|kytwvkkkre

LH00995:48:23YTGFLT4:1:2188:27236:9309,LH00995:48:23YTGFLT4:2:1369:31766:16876,LH00995:48:23YTGFLT4:2:2331:11040:15363,LH00995:48:23YTGFLT4:5:1295:27657:20211,LH00995:48:23YTGFLT4:5:2356:5563:16021

CASTOR2

GTF2I

+/+

chr7:74965098

chr7:74728789

CDS/splice-site

CDS

duplication

1365

5871

medium

out-of-frame

Cytosolic_arginine_sensor_for_mTORC1_subunit_1_N-terminal_domain(48%)|GTF2I-like_repeat(83%)

ENSG00000274070.2

ENSG00000263001.7

ENST00000616305.2

ENST00000650807.1

downstream

upstream

duplicates(5),multimappers(1)

MELHILEHRLQVASVAKESIPLFTYGLIKLAFLSSKTr|*

ADAMTS17

TTC23

-/-

chr15:100132007

chr15:99139399

CDS/splice-site

deletion

136

454

medium

out-of-frame

ADAMTS_cysteine-rich_domain_2(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%),Thrombospondin_type_1_domain(10%)|Tetratricopeptide_repeat(7%)

ENSG00000140470.15

ENSG00000103852.13

ENST00000268070.9

ENST00000558663.5

upstream

downstream

duplicates(9),mismappers(1)

GCAAGACGCCCATCCCGGAGCATGTGGACGGAGACTGGAGCCCGTGGGGCGCCTGGAGCATGTGCAGCCGAACATGTGGGACGGGAGCCCGCTTCcGGCAGAGGAAATGTGACAACCCCCC|TGTCTCCAGATCCAGACCCTCTTATATGGACCGCAGGACAAAAGGACTCTGGCCACCCAGCAGGCCATGGGCATGCTGTCCAC___GGCCCCCAAGGTTGCTTCGAAGCCAAGGCAGGCATCAAAAGCCAAAGTGGCCTTCTGCACCAGCATCtCTCAGGACACCCTGCTGGGGAAGGCCCGGCCCGGCACAACAGCAGACTGAGGCCCCCACC

KTPIPEHVDGDWSPWGAWSMCSRTCGTGARFRQRKCDNPp|vsrsrpsymdrrtkglwppsrpwaccprpprllrsqgrhqkpkwpsapaslrtpcwgrpgpaqqqteap

LH00995:48:23YTGFLT4:3:2441:13798:9379,LH00995:48:23YTGFLT4:3:2441:13806:9365,LH00995:48:23YTGFLT4:4:1324:24202:14284,LH00995:48:23YTGFLT4:4:2373:1534:17310,LH00995:48:23YTGFLT4:5:1143:24429:2709,LH00995:48:23YTGFLT4:6:2304:27309:23952,LH00995:48:23YTGFLT4:8:2155:20901:16414,LH00995:48:23YTGFLT4:1:2303:19979:23195,LH00995:48:23YTGFLT4:5:2127:21613:7754,LH00995:48:23YTGFLT4:6:1496:37130:26026,LH00995:48:23YTGFLT4:6:1496:37138:26012,LH00995:48:23YTGFLT4:7:1243:5288:19636

ADAMTS17

TTC23

-/-

chr15:100132007

chr15:99139467

CDS/splice-site

deletion

136

low

out-of-frame

ADAMTS_cysteine-rich_domain_2(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%),Thrombospondin_type_1_domain(10%)|Tetratricopeptide_repeat(7%)

ENSG00000140470.15

ENSG00000103852.13

ENST00000268070.9

ENST00000459771.5

upstream

downstream

duplicates(2)

GCCTGGAGCATGTGCAGCCGAACATGTGGGACGGGAGCCCGCTTCcGGCAGAGGAAATGTGACAACCCCCC|GGAGACCTTAGTTTCCTGCTCTCAGCG

AWSMCSRTCGTGARFRQRKCDNPp|etlvscsq

LH00995:48:23YTGFLT4:2:2235:37583:19244,LH00995:48:23YTGFLT4:4:1358:28514:16764,LH00995:48:23YTGFLT4:8:1114:45204:4811

LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

1329

1442

low

in-frame

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

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(128)

GCACATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCGCC

HILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPPP

LH00995:48:23YTGFLT4:1:1124:27090:2275,LH00995:48:23YTGFLT4:1:1272:10684:21612,LH00995:48:23YTGFLT4:1:1361:41507:5750,LH00995:48:23YTGFLT4:1:2119:25246:4545,LH00995:48:23YTGFLT4:1:2160:34404:19062,LH00995:48:23YTGFLT4:1:2190:33384:6591,LH00995:48:23YTGFLT4:1:2190:33392:6605,LH00995:48:23YTGFLT4:1:2190:36426:10038,LH00995:48:23YTGFLT4:1:2305:31014:21458,LH00995:48:23YTGFLT4:1:2328:34485:14774,LH00995:48:23YTGFLT4:1:2356:30237:23252,LH00995:48:23YTGFLT4:1:2383:29655:4727,LH00995:48:23YTGFLT4:2:1166:20861:15755,LH00995:48:23YTGFLT4:2:1295:46118:9197,LH00995:48:23YTGFLT4:2:1358:16832:18810,LH00995:48:23YTGFLT4:2:1404:1947:1490,LH00995:48:23YTGFLT4:2:2124:42380:12252,LH00995:48:23YTGFLT4:2:2151:22293:6521,LH00995:48:23YTGFLT4:2:2202:19866:7081,LH00995:48:23YTGFLT4:2:2310:22673:9365,LH00995:48:23YTGFLT4:3:1131:41304:8539,LH00995:48:23YTGFLT4:3:1247:51943:18698,LH00995:48:23YTGFLT4:3:1258:34298:27679,LH00995:48:23YTGFLT4:3:1273:17552:9856,LH00995:48:23YTGFLT4:3:1304:15141:13751,LH00995:48:23YTGFLT4:3:1321:30132:22397,LH00995:48:23YTGFLT4:3:1385:38926:14059,LH00995:48:23YTGFLT4:3:1385:39444:14452,LH00995:48:23YTGFLT4:3:1385:6606:10318,LH00995:48:23YTGFLT4:3:1402:41911:21024,LH00995:48:23YTGFLT4:3:1403:50988:20968,LH00995:48:23YTGFLT4:3:1403:50996:20982,LH00995:48:23YTGFLT4:3:1463:35107:21794,LH00995:48:23YTGFLT4:3:1463:35116:21780,LH00995:48:23YTGFLT4:3:2148:14672:16778,LH00995:48:23YTGFLT4:3:2429:21840:23532,LH00995:48:23YTGFLT4:3:2444:47655:21892,LH00995:48:23YTGFLT4:3:2456:23523:6157,LH00995:48:23YTGFLT4:3:2490:45179:15307,LH00995:48:23YTGFLT4:4:1212:18369:16512,LH00995:48:23YTGFLT4:4:1217:15441:10907,LH00995:48:23YTGFLT4:4:1335:16387:18627,LH00995:48:23YTGFLT4:4:1405:38983:6619,LH00995:48:23YTGFLT4:4:1431:45544:18852,LH00995:48:23YTGFLT4:4:1474:5927:21304,LH00995:48:23YTGFLT4:4:2110:33967:3424,LH00995:48:23YTGFLT4:4:2180:1680:25157,LH00995:48:23YTGFLT4:4:2184:26888:27399,LH00995:48:23YTGFLT4:4:2223:19769:18263,LH00995:48:23YTGFLT4:5:1159:16727:11958,LH00995:48:23YTGFLT4:5:1231:9147:20015,LH00995:48:23YTGFLT4:5:1233:8419:7179,LH00995:48:23YTGFLT4:5:1242:12989:13583,LH00995:48:23YTGFLT4:5:1266:41677:29277,LH00995:48:23YTGFLT4:5:1266:41685:29263,LH00995:48:23YTGFLT4:5:1295:3387:7179,LH00995:48:23YTGFLT4:5:1421:6186:15727,LH00995:48:23YTGFLT4:5:1427:11420:28380,LH00995:48:23YTGFLT4:5:1475:12431:14326,LH00995:48:23YTGFLT4:5:2129:41385:2934,LH00995:48:23YTGFLT4:5:2149:45293:14017,LH00995:48:23YTGFLT4:5:2268:31936:3943,LH00995:48:23YTGFLT4:5:2279:32155:4881,LH00995:48:23YTGFLT4:5:2309:5126:11789,LH00995:48:23YTGFLT4:5:2369:21443:12028,LH00995:48:23YTGFLT4:5:2482:48213:20841,LH00995:48:23YTGFLT4:6:1142:41490:1855,LH00995:48:23YTGFLT4:6:1149:47097:19244,LH00995:48:23YTGFLT4:6:1189:18021:19580,LH00995:48:23YTGFLT4:6:1215:13645:8300,LH00995:48:23YTGFLT4:6:1315:48836:18585,LH00995:48:23YTGFLT4:6:1422:47356:7922,LH00995:48:23YTGFLT4:6:1428:45697:1659,LH00995:48:23YTGFLT4:6:1428:45705:1645,LH00995:48:23YTGFLT4:6:1437:2707:11775,LH00995:48:23YTGFLT4:6:2127:33805:23097,LH00995:48:23YTGFLT4:6:2210:19607:16610,LH00995:48:23YTGFLT4:6:2261:16549:16189,LH00995:48:23YTGFLT4:6:2266:10384:22971,LH00995:48:23YTGFLT4:6:2351:27106:29431,LH00995:48:23YTGFLT4:6:2371:16088:9281,LH00995:48:23YTGFLT4:6:2437:20756:12322,LH00995:48:23YTGFLT4:6:2444:13030:20295,LH00995:48:23YTGFLT4:7:1117:6137:23322,LH00995:48:23YTGFLT4:7:1213:7593:23714,LH00995:48:23YTGFLT4:7:1340:8532:22229,LH00995:48:23YTGFLT4:7:1386:42105:17885,LH00995:48:23YTGFLT4:7:1404:9341:25199,LH00995:48:23YTGFLT4:7:1421:14518:12588,LH00995:48:23YTGFLT4:7:1462:22333:24162,LH00995:48:23YTGFLT4:7:2122:12747:19468,LH00995:48:23YTGFLT4:7:2162:26386:6493,LH00995:48:23YTGFLT4:7:2186:51198:8020,LH00995:48:23YTGFLT4:7:2335:20966:27427,LH00995:48:23YTGFLT4:7:2357:45535:13009,LH00995:48:23YTGFLT4:7:2361:30787:26362,LH00995:48:23YTGFLT4:7:2363:35981:14228,LH00995:48:23YTGFLT4:7:2384:32947:21332,LH00995:48:23YTGFLT4:7:2452:4187:14284,LH00995:48:23YTGFLT4:7:2453:8330:10024,LH00995:48:23YTGFLT4:7:2493:46110:9211,LH00995:48:23YTGFLT4:8:1150:5401:25157,LH00995:48:23YTGFLT4:8:1165:14656:21234,LH00995:48:23YTGFLT4:8:1230:36402:25942,LH00995:48:23YTGFLT4:8:1282:5361:9421,LH00995:48:23YTGFLT4:8:1327:23401:26068,LH00995:48:23YTGFLT4:8:1456:9931:17086,LH00995:48:23YTGFLT4:8:1492:17714:29557,LH00995:48:23YTGFLT4:8:1492:44281:14452,LH00995:48:23YTGFLT4:8:2132:37178:1196,LH00995:48:23YTGFLT4:8:2147:7893:17843,LH00995:48:23YTGFLT4:8:2275:27414:9001,LH00995:48:23YTGFLT4:8:2315:25440:8216,LH00995:48:23YTGFLT4:8:2380:24437:11775,LH00995:48:23YTGFLT4:8:2440:12172:16456,LH00995:48:23YTGFLT4:8:2479:23951:22285,LH00995:48:23YTGFLT4:1:1166:25545:5764,LH00995:48:23YTGFLT4:1:1308:46692:10388,LH00995:48:23YTGFLT4:1:1310:48634:2822,LH00995:48:23YTGFLT4:1:1440:4851:20645,LH00995:48:23YTGFLT4:1:2140:50228:2051,LH00995:48:23YTGFLT4:1:2411:23612:5414,LH00995:48:23YTGFLT4:2:1111:4746:7544,LH00995:48:23YTGFLT4:2:1157:29938:25788,LH00995:48:23YTGFLT4:2:1285:37834:28478,LH00995:48:23YTGFLT4:2:1434:9009:18515,LH00995:48:23YTGFLT4:2:1434:9025:18515,LH00995:48:23YTGFLT4:2:1477:37397:6058,LH00995:48:23YTGFLT4:2:2104:5077:28100,LH00995:48:23YTGFLT4:2:2198:34315:2822,LH00995:48:23YTGFLT4:2:2260:6703:13149,LH00995:48:23YTGFLT4:2:2269:23959:25830,LH00995:48:23YTGFLT4:2:2493:25626:15965,LH00995:48:23YTGFLT4:3:1192:13499:9533,LH00995:48:23YTGFLT4:3:1192:13515:9533,LH00995:48:23YTGFLT4:3:1208:21136:25451,LH00995:48:23YTGFLT4:3:1331:40528:2037,LH00995:48:23YTGFLT4:3:1385:25205:1308,LH00995:48:23YTGFLT4:3:2247:2958:7446,LH00995:48:23YTGFLT4:3:2415:40406:16287,LH00995:48:23YTGFLT4:3:2417:13248:20421,LH00995:48:23YTGFLT4:3:2450:2586:2597,LH00995:48:23YTGFLT4:4:1315:36701:6759,LH00995:48:23YTGFLT4:4:1315:36709:6773,LH00995:48:23YTGFLT4:4:1341:42275:21850,LH00995:48:23YTGFLT4:4:1489:13345:16498,LH00995:48:23YTGFLT4:4:1489:13353:16512,LH00995:48:23YTGFLT4:4:2153:39872:21696,LH00995:48:23YTGFLT4:4:2167:9915:23504,LH00995:48:23YTGFLT4:4:2168:36256:14031,LH00995:48:23YTGFLT4:4:2173:40609:7053,LH00995:48:23YTGFLT4:4:2490:32138:21556,LH00995:48:23YTGFLT4:5:1119:29517:11607,LH00995:48:23YTGFLT4:5:1207:38796:10921,LH00995:48:23YTGFLT4:5:1439:46498:4335,LH00995:48:23YTGFLT4:5:1449:24607:27960,LH00995:48:23YTGFLT4:5:2234:31046:9323,LH00995:48:23YTGFLT4:5:2293:43683:26222,LH00995:48:23YTGFLT4:5:2316:37543:3452,LH00995:48:23YTGFLT4:5:2325:50195:24667,LH00995:48:23YTGFLT4:5:2456:36960:15251,LH00995:48:23YTGFLT4:6:1331:38093:26348,LH00995:48:23YTGFLT4:6:1353:39225:3929,LH00995:48:23YTGFLT4:6:2359:13386:25536,LH00995:48:23YTGFLT4:7:1201:28085:10164,LH00995:48:23YTGFLT4:7:2167:23717:14368,LH00995:48:23YTGFLT4:7:2374:8524:2962,LH00995:48:23YTGFLT4:7:2387:17512:22509,LH00995:48:23YTGFLT4:7:2392:7440:16918,LH00995:48:23YTGFLT4:7:2397:26839:19160,LH00995:48:23YTGFLT4:7:2397:30156:21038,LH00995:48:23YTGFLT4:7:2443:6242:14816,LH00995:48:23YTGFLT4:7:2495:32923:26502,LH00995:48:23YTGFLT4:8:1269:25173:16946,LH00995:48:23YTGFLT4:8:1332:6752:9786,LH00995:48:23YTGFLT4:8:1442:31596:9491,LH00995:48:23YTGFLT4:8:1476:6364:10486,LH00995:48:23YTGFLT4:8:2111:34120:6437,LH00995:48:23YTGFLT4:8:2188:27276:18936,LH00995:48:23YTGFLT4:8:2218:30100:14522,LH00995:48:23YTGFLT4:8:2329:15942:18810,LH00995:48:23YTGFLT4:8:2493:29606:13219

NF1

+/+

chr17:31226511

chr17:31226448

CDS

duplication/ITD

691

833

low

out-of-frame

|Divergent_CRAL/TRIO_domain(100%),GTPase-activator_protein_for_Ras-like_GTPase(100%)

ENSG00000196712.18

ENST00000356175.7

downstream

upstream

duplicates(49)

TCTCTCCGGAAGGGAAAAGGGAACTCCTCTATG___GATAGTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACAT|GtTtCtGtGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCC

SLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYm|flwnppdlptspdqtrsg

LH00995:48:23YTGFLT4:1:1259:20885:15124,LH00995:48:23YTGFLT4:1:1472:18183:4223,LH00995:48:23YTGFLT4:1:2253:31564:20393,LH00995:48:23YTGFLT4:2:2414:44427:21850,LH00995:48:23YTGFLT4:4:2160:39128:12280,LH00995:48:23YTGFLT4:5:1176:5401:29277,LH00995:48:23YTGFLT4:5:2126:33659:7488,LH00995:48:23YTGFLT4:5:2129:46757:27175,LH00995:48:23YTGFLT4:6:2473:30448:6016,LH00995:48:23YTGFLT4:7:1111:18029:8048,LH00995:48:23YTGFLT4:7:1184:41369:16862,LH00995:48:23YTGFLT4:7:2110:9195:25087,LH00995:48:23YTGFLT4:7:2290:50592:21766,LH00995:48:23YTGFLT4:7:2351:28822:13233,LH00995:48:23YTGFLT4:8:1259:46255:10304,LH00995:48:23YTGFLT4:8:2317:38174:17016,LH00995:48:23YTGFLT4:8:2360:35213:29655,LH00995:48:23YTGFLT4:1:1251:21217:8272,LH00995:48:23YTGFLT4:1:1251:21217:8272,LH00995:48:23YTGFLT4:1:1259:20885:15124,LH00995:48:23YTGFLT4:1:1423:12051:3578,LH00995:48:23YTGFLT4:1:1423:12051:3578,LH00995:48:23YTGFLT4:1:1423:12067:3578,LH00995:48:23YTGFLT4:1:1423:12067:3578,LH00995:48:23YTGFLT4:1:1472:18183:4223,LH00995:48:23YTGFLT4:1:2253:31564:20393,LH00995:48:23YTGFLT4:2:1148:42210:6661,LH00995:48:23YTGFLT4:2:1148:42210:6661,LH00995:48:23YTGFLT4:2:1336:20853:10640,LH00995:48:23YTGFLT4:2:1336:20853:10640,LH00995:48:23YTGFLT4:2:1457:44621:13359,LH00995:48:23YTGFLT4:2:1457:44621:13359,LH00995:48:23YTGFLT4:2:2235:6760:6128,LH00995:48:23YTGFLT4:2:2235:6760:6128,LH00995:48:23YTGFLT4:2:2308:39339:23994,LH00995:48:23YTGFLT4:2:2308:39339:23994,LH00995:48:23YTGFLT4:2:2414:44427:21850,LH00995:48:23YTGFLT4:2:2441:14551:25339,LH00995:48:23YTGFLT4:2:2441:14551:25339,LH00995:48:23YTGFLT4:3:1426:16031:6773,LH00995:48:23YTGFLT4:3:1426:16031:6773,LH00995:48:23YTGFLT4:3:2209:9195:8749,LH00995:48:23YTGFLT4:3:2209:9195:8749,LH00995:48:23YTGFLT4:3:2452:25448:20449,LH00995:48:23YTGFLT4:3:2452:25448:20449,LH00995:48:23YTGFLT4:4:1365:28118:9463,LH00995:48:23YTGFLT4:4:1365:28118:9463,LH00995:48:23YTGFLT4:4:2160:39128:12280,LH00995:48:23YTGFLT4:5:1176:5401:29277,LH00995:48:23YTGFLT4:5:1185:28886:3284,LH00995:48:23YTGFLT4:5:1185:28886:3284,LH00995:48:23YTGFLT4:5:2126:33659:7488,LH00995:48:23YTGFLT4:5:2129:46757:27175,LH00995:48:23YTGFLT4:5:2247:10093:14676,LH00995:48:23YTGFLT4:5:2247:10093:14676,LH00995:48:23YTGFLT4:5:2330:21152:17184,LH00995:48:23YTGFLT4:5:2330:21152:17184,LH00995:48:23YTGFLT4:5:2377:26249:11327,LH00995:48:23YTGFLT4:5:2377:26249:11327,LH00995:48:23YTGFLT4:5:2409:30626:5288,LH00995:48:23YTGFLT4:5:2409:30626:5288,LH00995:48:23YTGFLT4:5:2467:37389:2009,LH00995:48:23YTGFLT4:5:2467:37389:2009,LH00995:48:23YTGFLT4:6:1275:31192:29081,LH00995:48:23YTGFLT4:6:1275:31192:29081,LH00995:48:23YTGFLT4:6:2473:30448:6016,LH00995:48:23YTGFLT4:7:1111:18029:8048,LH00995:48:23YTGFLT4:7:1151:22503:10921,LH00995:48:23YTGFLT4:7:1151:22503:10921,LH00995:48:23YTGFLT4:7:1184:41369:16862,LH00995:48:23YTGFLT4:7:2110:9195:25087,LH00995:48:23YTGFLT4:7:2180:14559:13667,LH00995:48:23YTGFLT4:7:2180:14559:13667,LH00995:48:23YTGFLT4:7:2290:50592:21766,LH00995:48:23YTGFLT4:7:2305:25157:26306,LH00995:48:23YTGFLT4:7:2305:25157:26306,LH00995:48:23YTGFLT4:7:2351:28822:13233,LH00995:48:23YTGFLT4:8:1113:26022:13429,LH00995:48:23YTGFLT4:8:1113:26022:13429,LH00995:48:23YTGFLT4:8:1181:45552:1518,LH00995:48:23YTGFLT4:8:1181:45552:1518,LH00995:48:23YTGFLT4:8:1184:33125:23798,LH00995:48:23YTGFLT4:8:1184:33125:23798,LH00995:48:23YTGFLT4:8:1259:46255:10304,LH00995:48:23YTGFLT4:8:1316:44662:5834,LH00995:48:23YTGFLT4:8:1316:44662:5834,LH00995:48:23YTGFLT4:8:2317:38174:17016,LH00995:48:23YTGFLT4:8:2360:35213:29655,LH00995:48:23YTGFLT4:8:2433:35860:16091,LH00995:48:23YTGFLT4:8:2433:35860:16091

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

12198

9660

low

out-of-frame

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

ENSG00000160741.17

ENSG00000280441.3

ENST00000368633.2

upstream

duplicates(97),mismatches(5),multimappers(1)

GCAATCCCAACCTCCAGGCTTCCCTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

NPNLQASLSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp

LH00995:48:23YTGFLT4:1:1115:44621:2457,LH00995:48:23YTGFLT4:1:1125:25108:12350,LH00995:48:23YTGFLT4:1:1125:25116:12336,LH00995:48:23YTGFLT4:1:1285:44581:24835,LH00995:48:23YTGFLT4:1:1294:12496:14662,LH00995:48:23YTGFLT4:1:1313:5150:25367,LH00995:48:23YTGFLT4:1:1337:37478:15166,LH00995:48:23YTGFLT4:1:1338:17123:6927,LH00995:48:23YTGFLT4:1:1422:40285:4783,LH00995:48:23YTGFLT4:1:1477:38902:16371,LH00995:48:23YTGFLT4:1:1479:38683:15741,LH00995:48:23YTGFLT4:1:1479:38691:15755,LH00995:48:23YTGFLT4:1:1483:24065:9421,LH00995:48:23YTGFLT4:1:2131:33578:12840,LH00995:48:23YTGFLT4:1:2141:11954:17647,LH00995:48:23YTGFLT4:1:2246:19510:14116,LH00995:48:23YTGFLT4:1:2250:32195:24709,LH00995:48:23YTGFLT4:1:2292:15764:2303,LH00995:48:23YTGFLT4:1:2303:43375:13415,LH00995:48:23YTGFLT4:1:2345:47922:21374,LH00995:48:23YTGFLT4:1:2396:28781:17591,LH00995:48:23YTGFLT4:1:2422:41345:5414,LH00995:48:23YTGFLT4:1:2446:41725:27763,LH00995:48:23YTGFLT4:1:2459:14171:3382,LH00995:48:23YTGFLT4:1:2472:25440:28814,LH00995:48:23YTGFLT4:1:2483:24542:12518,LH00995:48:23YTGFLT4:1:2498:7472:21430,LH00995:48:23YTGFLT4:2:1150:26734:2387,LH00995:48:23YTGFLT4:2:1197:27373:6745,LH00995:48:23YTGFLT4:2:1222:25755:1532,LH00995:48:23YTGFLT4:2:1271:12674:7179,LH00995:48:23YTGFLT4:2:1273:44370:24134,LH00995:48:23YTGFLT4:2:1435:1469:29109,LH00995:48:23YTGFLT4:2:2105:42793:19748,LH00995:48:23YTGFLT4:2:2107:12172:7544,LH00995:48:23YTGFLT4:2:2157:26386:9772,LH00995:48:23YTGFLT4:2:2185:33627:3816,LH00995:48:23YTGFLT4:2:2191:10991:21080,LH00995:48:23YTGFLT4:2:2285:40374:14326,LH00995:48:23YTGFLT4:2:2334:48294:18179,LH00995:48:23YTGFLT4:2:2372:12658:7740,LH00995:48:23YTGFLT4:2:2428:47679:29641,LH00995:48:23YTGFLT4:2:2493:39783:16357,LH00995:48:23YTGFLT4:3:1112:8847:28212,LH00995:48:23YTGFLT4:3:1120:1243:15489,LH00995:48:23YTGFLT4:3:1278:44840:25339,LH00995:48:23YTGFLT4:3:1379:50106:10332,LH00995:48:23YTGFLT4:3:1453:52161:12938,LH00995:48:23YTGFLT4:3:1491:35633:8413,LH00995:48:23YTGFLT4:3:2162:21905:23083,LH00995:48:23YTGFLT4:3:2187:4107:26642,LH00995:48:23YTGFLT4:3:2291:28538:16610,LH00995:48:23YTGFLT4:3:2350:1437:14816,LH00995:48:23YTGFLT4:3:2380:45600:22285,LH00995:48:23YTGFLT4:3:2444:28134:14900,LH00995:48:23YTGFLT4:3:2460:15263:25143,LH00995:48:23YTGFLT4:3:2478:43748:20337,LH00995:48:23YTGFLT4:4:1108:44840:24246,LH00995:48:23YTGFLT4:4:1141:17051:29557,LH00995:48:23YTGFLT4:4:1217:16088:11832,LH00995:48:23YTGFLT4:4:1238:41652:15531,LH00995:48:23YTGFLT4:4:1333:31985:23083,LH00995:48:23YTGFLT4:4:1389:35844:19762,LH00995:48:23YTGFLT4:4:1448:48278:2794,LH00995:48:23YTGFLT4:4:2116:46749:15026,LH00995:48:23YTGFLT4:4:2118:25731:16680,LH00995:48:23YTGFLT4:4:2184:42971:24401,LH00995:48:23YTGFLT4:4:2268:49411:10304,LH00995:48:23YTGFLT4:4:2472:29663:7852,LH00995:48:23YTGFLT4:5:1111:13806:29207,LH00995:48:23YTGFLT4:5:1249:11218:1518,LH00995:48:23YTGFLT4:5:1324:41531:28941,LH00995:48:23YTGFLT4:5:1324:41539:28926,LH00995:48:23YTGFLT4:5:1360:8135:26867,LH00995:48:23YTGFLT4:5:1372:15586:27777,LH00995:48:23YTGFLT4:5:1373:1817:8020,LH00995:48:23YTGFLT4:5:1373:1825:8034,LH00995:48:23YTGFLT4:5:1482:49338:13569,LH00995:48:23YTGFLT4:5:2133:11752:10682,LH00995:48:23YTGFLT4:5:2296:33651:25297,LH00995:48:23YTGFLT4:5:2363:25213:12700,LH00995:48:23YTGFLT4:5:2363:28029:3704,LH00995:48:23YTGFLT4:5:2469:35552:26124,LH00995:48:23YTGFLT4:5:2494:4333:5624,LH00995:48:23YTGFLT4:6:1129:42655:19258,LH00995:48:23YTGFLT4:6:1161:9462:28520,LH00995:48:23YTGFLT4:6:1161:9470:28506,LH00995:48:23YTGFLT4:6:1207:6760:11341,LH00995:48:23YTGFLT4:6:1211:51360:3004,LH00995:48:23YTGFLT4:6:1290:35836:22579,LH00995:48:23YTGFLT4:6:1292:38667:24148,LH00995:48:23YTGFLT4:6:1292:40366:21682,LH00995:48:23YTGFLT4:6:1367:14915:24625,LH00995:48:23YTGFLT4:6:1387:22657:1967,LH00995:48:23YTGFLT4:6:1402:47445:6143,LH00995:48:23YTGFLT4:6:1419:19469:24274,LH00995:48:23YTGFLT4:6:2112:31920:17535,LH00995:48:23YTGFLT4:6:2134:19000:22453,LH00995:48:23YTGFLT4:6:2137:26750:17464,LH00995:48:23YTGFLT4:6:2137:40447:19076,LH00995:48:23YTGFLT4:6:2151:43464:3368,LH00995:48:23YTGFLT4:6:2191:19955:11047,LH00995:48:23YTGFLT4:6:2233:30893:8244,LH00995:48:23YTGFLT4:6:2264:48974:16806,LH00995:48:23YTGFLT4:6:2323:27414:19734,LH00995:48:23YTGFLT4:6:2323:36394:5302,LH00995:48:23YTGFLT4:6:2407:16039:20855,LH00995:48:23YTGFLT4:6:2475:30706:3242,LH00995:48:23YTGFLT4:6:2485:48197:1392,LH00995:48:23YTGFLT4:7:1116:38465:11439,LH00995:48:23YTGFLT4:7:1144:22835:13177,LH00995:48:23YTGFLT4:7:1215:26459:10150,LH00995:48:23YTGFLT4:7:1233:6647:21122,LH00995:48:23YTGFLT4:7:1239:2925:17282,LH00995:48:23YTGFLT4:7:1333:29857:23069,LH00995:48:23YTGFLT4:7:1395:27980:8020,LH00995:48:23YTGFLT4:7:1418:38182:5792,LH00995:48:23YTGFLT4:7:1460:42680:1757,LH00995:48:23YTGFLT4:7:2339:17609:16175,LH00995:48:23YTGFLT4:7:2388:14988:11860,LH00995:48:23YTGFLT4:7:2460:47477:10767,LH00995:48:23YTGFLT4:8:1122:48084:2373,LH00995:48:23YTGFLT4:8:1166:27778:24541,LH00995:48:23YTGFLT4:8:1191:15748:12924,LH00995:48:23YTGFLT4:8:1253:27915:4881,LH00995:48:23YTGFLT4:8:1341:31564:23364,LH00995:48:23YTGFLT4:8:1356:15238:25045,LH00995:48:23YTGFLT4:8:1415:9899:4559,LH00995:48:23YTGFLT4:8:1443:41264:9954,LH00995:48:23YTGFLT4:8:2230:20772:15993,LH00995:48:23YTGFLT4:8:2230:24089:3018,LH00995:48:23YTGFLT4:8:2336:48205:19987,LH00995:48:23YTGFLT4:8:2341:48472:1645,LH00995:48:23YTGFLT4:8:2453:14761:1266,LH00995:48:23YTGFLT4:8:2473:10490:26208

ZFP36L2

FP671120.4

-/-

+/+

chr2:43224910

chr21:8214657

CDS

intron

translocation

15736

6576

low

out-of-frame

Tis11B_like_protein__N_terminus(100%),Zinc_finger_C-x8-C-x5-C-x3-H_type_(and_similar)(100%)|

ENSG00000152518.8

ENSG00000278996.1

ENST00000282388.4

upstream

duplicates(173),mismatches(99)

TGCACCACAGCCTCAGCTTCTCGGGCTTCCCGTCGGGCCACCATCAGCCCCCGGGCGGCCTCGAGTCGCCGCTGCTGCTCGACAGCCCCACGTCGCGCACGCCGCCGCCGCCCTCCTGCTCTTCGGCCTCGTCC|GTCCGTCCGTCCGTCCTCCTCCTCCC

HHSLSFSGFPSGHHQPPGGLESPLLLDSPTSRTPPPPSCSSASS|vrpsvlll

LH00995:48:23YTGFLT4:1:1134:38036:24092,LH00995:48:23YTGFLT4:1:1160:39565:26516,LH00995:48:23YTGFLT4:1:1165:40293:6283,LH00995:48:23YTGFLT4:1:1186:23976:17619,LH00995:48:23YTGFLT4:1:1189:16161:20897,LH00995:48:23YTGFLT4:1:1198:39217:7109,LH00995:48:23YTGFLT4:1:1235:15133:7964,LH00995:48:23YTGFLT4:1:1242:6606:22313,LH00995:48:23YTGFLT4:1:1253:47226:6072,LH00995:48:23YTGFLT4:1:1291:27470:18627,LH00995:48:23YTGFLT4:1:1302:38198:10052,LH00995:48:23YTGFLT4:1:1323:15408:15895,LH00995:48:23YTGFLT4:1:1390:50171:27595,LH00995:48:23YTGFLT4:1:1445:26119:4097,LH00995:48:23YTGFLT4:1:1456:43845:14228,LH00995:48:23YTGFLT4:1:2133:28199:18964,LH00995:48:23YTGFLT4:1:2133:29881:21346,LH00995:48:23YTGFLT4:1:2136:41790:18515,LH00995:48:23YTGFLT4:1:2184:14211:22565,LH00995:48:23YTGFLT4:1:2185:11865:13261,LH00995:48:23YTGFLT4:1:2193:37154:5610,LH00995:48:23YTGFLT4:1:2204:20723:24064,LH00995:48:23YTGFLT4:1:2221:24841:25928,LH00995:48:23YTGFLT4:1:2298:8402:25816,LH00995:48:23YTGFLT4:1:2363:45867:5232,LH00995:48:23YTGFLT4:1:2375:37195:29501,LH00995:48:23YTGFLT4:1:2395:29453:5666,LH00995:48:23YTGFLT4:1:2403:45770:23896,LH00995:48:23YTGFLT4:1:2409:45665:23994,LH00995:48:23YTGFLT4:1:2413:16233:5386,LH00995:48:23YTGFLT4:1:2415:4082:17549,LH00995:48:23YTGFLT4:1:2416:6614:25157,LH00995:48:23YTGFLT4:1:2441:30294:6395,LH00995:48:23YTGFLT4:1:2463:12722:26264,LH00995:48:23YTGFLT4:1:2465:24461:7306,LH00995:48:23YTGFLT4:1:2466:43901:5386,LH00995:48:23YTGFLT4:1:2495:12253:26208,LH00995:48:23YTGFLT4:2:1123:3775:7852,LH00995:48:23YTGFLT4:2:1128:18547:3929,LH00995:48:23YTGFLT4:2:1141:46280:3144,LH00995:48:23YTGFLT4:2:1173:15918:25409,LH00995:48:23YTGFLT4:2:1185:41134:26124,LH00995:48:23YTGFLT4:2:1190:46628:1560,LH00995:48:23YTGFLT4:2:1190:46644:1560,LH00995:48:23YTGFLT4:2:1202:41943:2275,LH00995:48:23YTGFLT4:2:1210:25157:10332,LH00995:48:23YTGFLT4:2:1230:51336:23644,LH00995:48:23YTGFLT4:2:1237:19033:12532,LH00995:48:23YTGFLT4:2:1244:51279:27946,LH00995:48:23YTGFLT4:2:1280:8863:24541,LH00995:48:23YTGFLT4:2:1288:19049:13177,LH00995:48:23YTGFLT4:2:1294:8621:24232,LH00995:48:23YTGFLT4:2:1330:39347:18908,LH00995:48:23YTGFLT4:2:1359:26864:7628,LH00995:48:23YTGFLT4:2:1368:25286:28324,LH00995:48:23YTGFLT4:2:1377:47097:25606,LH00995:48:23YTGFLT4:2:1387:4018:24387,LH00995:48:23YTGFLT4:2:1406:20230:14970,LH00995:48:23YTGFLT4:2:1417:33473:13891,LH00995:48:23YTGFLT4:2:1444:52096:7978,LH00995:48:23YTGFLT4:2:1452:15724:11173,LH00995:48:23YTGFLT4:2:1495:7650:8567,LH00995:48:23YTGFLT4:2:1497:5336:26474,LH00995:48:23YTGFLT4:2:2137:36167:11131,LH00995:48:23YTGFLT4:2:2148:1081:24513,LH00995:48:23YTGFLT4:2:2160:45900:14508,LH00995:48:23YTGFLT4:2:2173:16808:12490,LH00995:48:23YTGFLT4:2:2191:6170:10066,LH00995:48:23YTGFLT4:2:2202:30682:28730,LH00995:48:23YTGFLT4:2:2204:41515:12126,LH00995:48:23YTGFLT4:2:2226:3929:12042,LH00995:48:23YTGFLT4:2:2266:5255:28604,LH00995:48:23YTGFLT4:2:2276:39241:23322,LH00995:48:23YTGFLT4:2:2277:41531:10332,LH00995:48:23YTGFLT4:2:2309:28247:6857,LH00995:48:23YTGFLT4:2:2316:51643:7950,LH00995:48:23YTGFLT4:2:2358:22989:21430,LH00995:48:23YTGFLT4:2:2365:5352:11089,LH00995:48:23YTGFLT4:2:2398:43974:20869,LH00995:48:23YTGFLT4:2:2409:11962:22145,LH00995:48:23YTGFLT4:2:2442:5935:25241,LH00995:48:23YTGFLT4:2:2444:21193:20533,LH00995:48:23YTGFLT4:2:2455:13677:22088,LH00995:48:23YTGFLT4:2:2458:25755:22523,LH00995:48:23YTGFLT4:3:1102:50244:6030,LH00995:48:23YTGFLT4:3:1170:7812:22747,LH00995:48:23YTGFLT4:3:1176:14559:14200,LH00995:48:23YTGFLT4:3:1207:19194:29235,LH00995:48:23YTGFLT4:3:1212:10239:7894,LH00995:48:23YTGFLT4:3:1217:22940:17591,LH00995:48:23YTGFLT4:3:1217:23159:18810,LH00995:48:23YTGFLT4:3:1255:29509:11089,LH00995:48:23YTGFLT4:3:1258:10562:7334,LH00995:48:23YTGFLT4:3:1258:10570:7348,LH00995:48:23YTGFLT4:3:1262:5393:2583,LH00995:48:23YTGFLT4:3:1315:4333:12966,LH00995:48:23YTGFLT4:3:1315:44832:22215,LH00995:48:23YTGFLT4:3:1334:43238:3228,LH00995:48:23YTGFLT4:3:1341:1154:25956,LH00995:48:23YTGFLT4:3:1349:34824:20603,LH00995:48:23YTGFLT4:3:1430:12480:14578,LH00995:48:23YTGFLT4:3:1435:50770:26530,LH00995:48:23YTGFLT4:3:1453:12205:16708,LH00995:48:23YTGFLT4:3:1455:12957:21990,LH00995:48:23YTGFLT4:3:1472:35253:29641,LH00995:48:23YTGFLT4:3:1496:22487:26026,LH00995:48:23YTGFLT4:3:1496:28077:20659,LH00995:48:23YTGFLT4:3:1497:8653:29501,LH00995:48:23YTGFLT4:3:2112:33659:27385,LH00995:48:23YTGFLT4:3:2114:13895:8202,LH00995:48:23YTGFLT4:3:2167:3726:21808,LH00995:48:23YTGFLT4:3:2188:12593:5106,LH00995:48:23YTGFLT4:3:2203:44087:18207,LH00995:48:23YTGFLT4:3:2206:43917:6675,LH00995:48:23YTGFLT4:3:2209:32947:19678,LH00995:48:23YTGFLT4:3:2211:24785:11117,LH00995:48:23YTGFLT4:3:2222:30423:13933,LH00995:48:23YTGFLT4:3:2230:1542:20968,LH00995:48:23YTGFLT4:3:2239:45883:25634,LH00995:48:23YTGFLT4:3:2244:27932:21360,LH00995:48:23YTGFLT4:3:2246:41215:3088,LH00995:48:23YTGFLT4:3:2248:40245:11972,LH00995:48:23YTGFLT4:3:2248:45139:14284,LH00995:48:23YTGFLT4:3:2261:7852:25311,LH00995:48:23YTGFLT4:3:2303:5280:12448,LH00995:48:23YTGFLT4:3:2338:19502:10094,LH00995:48:23YTGFL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KCTD7

+/+

chr7:66638454

chr7:66638451

CDS

duplication/ITD

793

low

out-of-frame

BTB/POZ_domain(100%)|

ENSG00000243335.10

ENST00000639879.1

downstream

upstream

duplicates(60)

ATGCCATCGGGCCCCTCCTGGAGCAGCTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATGCCCTATTACAAAGGTGAGGGTCAGCTGCCCAGGAaG|GATGGTGGGTATGTGGGAGGAGGTCTGCAAGGCATCTGTGAGTGTTTAGGTCTCCATCAGAACACCGGGGGCAGCATTCATCCAGATTACTCAAGATGCG

AIGPLLEQLENMQPLKGEKVRQAFLGLMPYYKGEGQLPRk|dggyvggglqgiceclglhqntggsihpdysrc

LH00995:48:23YTGFLT4:1:2377:1898:27834,LH00995:48:23YTGFLT4:1:2393:39403:29095,LH00995:48:23YTGFLT4:2:1232:8532:7572,LH00995:48:23YTGFLT4:2:2119:22875:11257,LH00995:48:23YTGFLT4:2:2267:51304:9800,LH00995:48:23YTGFLT4:3:1216:34630:6423,LH00995:48:23YTGFLT4:3:2129:9292:23742,LH00995:48:23YTGFLT4:3:2151:7100:27623,LH00995:48:23YTGFLT4:3:2194:17277:22383,LH00995:48:23YTGFLT4:3:2302:37356:20673,LH00995:48:23YTGFLT4:4:1210:12172:24555,LH00995:48:23YTGFLT4:4:1397:35010:28296,LH00995:48:23YTGFLT4:4:1426:48415:28702,LH00995:48:23YTGFLT4:4:2220:2909:1785,LH00995:48:23YTGFLT4:4:2446:12366:23041,LH00995:48:23YTGFLT4:5:1156:37462:15559,LH00995:48:23YTGFLT4:6:1244:18539:16666,LH00995:48:23YTGFLT4:6:2127:47841:18627,LH00995:48:23YTGFLT4:6:2312:9147:27329,LH00995:48:23YTGFLT4:6:2442:9317:18908,LH00995:48:23YTGFLT4:7:1362:45366:8959,LH00995:48:23YTGFLT4:7:1423:2351:24807,LH00995:48:23YTGFLT4:7:2267:34598:18529,LH00995:48:23YTGFLT4:8:1253:28555:23532,LH00995:48:23YTGFLT4:8:1437:3985:18529,LH00995:48:23YTGFLT4:8:2324:27867:17240,LH00995:48:23YTGFLT4:1:1173:15602:25283,LH00995:48:23YTGFLT4:1:1217:26192:28100,LH00995:48:23YTGFLT4:1:1316:43108:11691,LH00995:48:23YTGFLT4:1:1485:42752:14858,LH00995:48:23YTGFLT4:1:2256:36855:8006,LH00995:48:23YTGFLT4:1:2322:26880:6955,LH00995:48:23YTGFLT4:1:2390:41571:17717,LH00995:48:23YTGFLT4:1:2465:36871:23308,LH00995:48:23YTGFLT4:2:1123:20432:17619,LH00995:48:23YTGFLT4:2:1173:41134:2976,LH00995:48:23YTGFLT4:2:1252:35245:29179,LH00995:48:23YTGFLT4:2:1355:13734:29417,LH00995:48:23YTGFLT4:2:1484:29331:24401,LH00995:48:23YTGFLT4:2:1484:29339:24415,LH00995:48:23YTGFLT4:2:2251:5336:16526,LH00995:48:23YTGFLT4:3:1143:14583:7964,LH00995:48:23YTGFLT4:3:1307:9219:13443,LH00995:48:23YTGFLT4:3:1329:34387:23434,LH00995:48:23YTGFLT4:3:1329:34396:23420,LH00995:48:23YTGFLT4:3:1440:30375:16371,LH00995:48:23YTGFLT4:3:2179:23474:11817,LH00995:48:23YTGFLT4:3:2413:8475:7418,LH00995:48:23YTGFLT4:3:2452:10894:8917,LH00995:48:23YTGFLT4:4:1367:40738:17535,LH00995:48:23YTGFLT4:4:1428:46870:13947,LH00995:48:23YTGFLT4:4:2178:10247:8216,LH00995:48:23YTGFLT4:4:2358:19057:19132,LH00995:48:23YTGFLT4:4:2360:38149:17535,LH00995:48:23YTGFLT4:4:2403:20262:1406,LH00995:48:23YTGFLT4:4:2482:17131:23700,LH00995:48:23YTGFLT4:5:1102:34218:2065,LH00995:48:23YTGFLT4:5:1162:10862:13093,LH00995:48:23YTGFLT4:5:1195:32430:11663,LH00995:48:23YTGFLT4:5:1496:45916:9267,LH00995:48:23YTGFLT4:5:1496:45932:9267,LH00995:48:23YTGFLT4:5:2419:15651:21556,LH00995:48:23YTGFLT4:5:2419:15659:21542,LH00995:48:23YTGFLT4:5:2419:15675:21542,LH00995:48:23YTGFLT4:6:1122:47032:14396,LH00995:48:23YTGFLT4:6:1276:51967:16778,LH00995:48:23YTGFLT4:6:1280:3807:16540,LH00995:48:23YTGFLT4:6:1371:22673:4994,LH00995:48:23YTGFLT4:6:1485:4123:6829,LH00995:48:23YTGFLT4:6:2206:11169:25087,LH00995:48:23YTGFLT4:6:2357:25254:19272,LH00995:48:23YTGFLT4:6:2410:4196:3256,LH00995:48:23YTGFLT4:7:1187:36766:13709,LH00995:48:23YTGFLT4:7:1211:49718:15489,LH00995:48:23YTGFLT4:7:1269:50778:2275,LH00995:48:23YTGFLT4:7:1269:50794:2275,LH00995:48:23YTGFLT4:7:1294:41102:14970,LH00995:48:23YTGFLT4:7:2213:25974:21612,LH00995:48:23YTGFLT4:7:2226:22762:13219,LH00995:48:23YTGFLT4:7:2226:22770:13205,LH00995:48:23YTGFLT4:7:2276:11679:19945,LH00995:48:23YTGFLT4:7:2296:27584:16021,LH00995:48:23YTGFLT4:7:2388:36879:16904,LH00995:48:23YTGFLT4:7:2405:20238:29389,LH00995:48:23YTGFLT4:8:1171:13426:29249,LH00995:48:23YTGFLT4:8:1193:29137:27960,LH00995:48:23YTGFLT4:8:1235:37850:11075,LH00995:48:23YTGFLT4:8:1491:9640:13667,LH00995:48:23YTGFLT4:8:2203:42235:11916,LH00995:48:23YTGFLT4:8:2332:26192:22831

THSD4

+/+

chr15:71256715

chr15:71141449

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

3367

3692

low

out-of-frame

Thrombospondin_type_1_domain(6%)|ADAM-TS_Spacer_1(100%),PLAC_(protease_and_lacunin)_domain(100%),Thrombospondin_type_1_domain(100%)

ENSG00000187720.14

ENST00000355327.7

downstream

upstream

duplicates(20)

AAC___GTATGTCCAGAAAGCAGTAGAAGTATCCGGGAGGTACAGTGTGCATCCTACAACAACAAGCCATTCATGGGCCGGTTTTATGAGTGGGAACCATTTGCAGAAG|GACTTGAACGCAACTCCCAATTGCAGAAAATTGGCAACGTCTCTGAAGAGCCCTTGCTTTTGCCTGGACCCCCAGCATCATGGTTTCCCATTTCATGGGGTCTCTCAG___TGTCCTGTGTTTCCTTCTGCTGCTTGGATTCCAGTTCGTCTGCCCACAGCCCTCC

NVCPESSRSIREVQCASYNNKPFMGRFYEWEPFAE|glernsqlqkignvseeplllpgppaswfpiswglsvscvsfccldssssahsp

LH00995:48:23YTGFLT4:1:1369:41167:11832,LH00995:48:23YTGFLT4:1:2304:11121:5750,LH00995:48:23YTGFLT4:2:1131:1121:22481,LH00995:48:23YTGFLT4:2:1320:7998:1322,LH00995:48:23YTGFLT4:2:1320:8006:1336,LH00995:48:23YTGFLT4:2:2102:8119:8987,LH00995:48:23YTGFLT4:2:2126:1073:5834,LH00995:48:23YTGFLT4:2:2126:1089:5834,LH00995:48:23YTGFLT4:2:2161:2230:7558,LH00995:48:23YTGFLT4:2:2409:11800:5106,LH00995:48:23YTGFLT4:2:2417:8467:13513,LH00995:48:23YTGFLT4:2:2464:51449:5036,LH00995:48:23YTGFLT4:3:1229:13790:15923,LH00995:48:23YTGFLT4:3:1382:45115:9225,LH00995:48:23YTGFLT4:3:1382:45131:9225,LH00995:48:23YTGFLT4:3:1442:28247:11846,LH00995:48:23YTGFLT4:3:2326:50325:8721,LH00995:48:23YTGFLT4:3:2326:50341:8721,LH00995:48:23YTGFLT4:3:2477:27891:12518,LH00995:48:23YTGFLT4:4:1112:15335:10052,LH00995:48:23YTGFLT4:4:2237:20942:22957,LH00995:48:23YTGFLT4:4:2257:38505:10472,LH00995:48:23YTGFLT4:4:2267:21589:22117,LH00995:48:23YTGFLT4:4:2411:45535:18193,LH00995:48:23YTGFLT4:4:2457:12383:4433,LH00995:48:23YTGFLT4:5:1165:20691:23336,LH00995:48:23YTGFLT4:5:1273:36046:14732,LH00995:48:23YTGFLT4:6:2322:34023:17114,LH00995:48:23YTGFLT4:6:2375:9697:3172,LH00995:48:23YTGFLT4:7:1234:26516:17310,LH00995:48:23YTGFLT4:7:2494:2836:7992,LH00995:48:23YTGFLT4:8:1140:13944:4979,LH00995:48:23YTGFLT4:8:1295:31232:21388,LH00995:48:23YTGFLT4:8:2109:34379:1813,LH00995:48:23YTGFLT4:8:2245:44662:22060,LH00995:48:23YTGFLT4:2:1118:33247:13303,LH00995:48:23YTGFLT4:2:2142:8435:20603,LH00995:48:23YTGFLT4:2:2235:36976:15110,LH00995:48:23YTGFLT4:3:1337:21201:23882,LH00995:48:23YTGFLT4:3:1381:42688:2303,LH00995:48:23YTGFLT4:3:1439:5733:13401,LH00995:48:23YTGFLT4:3:2254:10651:6899,LH00995:48:23YTGFLT4:4:2341:45827:23910,LH00995:48:23YTGFLT4:7:1126:16695:5904,LH00995:48:23YTGFLT4:8:1347:45155:24120

ZNF703

FP236383.3

+/+

chr8:37698690

chr21:8399951

3'UTR

intron

translocation

11235

9660

low

stop-codon

NocA-like_zinc-finger_protein_1(100%)|

ENSG00000183779.7

ENSG00000280441.3

ENST00000331569.6

downstream

upstream

duplicates(33)

CCACCCCTATGGCAAGAGCCACTTATCCACAGCGGGGGGCCTGGCCGTGCCGTCCCTCCCCACAGCCGGACCCTACTATTCGCCATACGCGCTGTATGGACAGAGACTAGCTTCAGCCTCGGCGCTGGGATACCAGTAACTACAGCTCTTCCTCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCC

LH00995:48:23YTGFLT4:1:1370:40261:6675,LH00995:48:23YTGFLT4:1:2132:19283:26699,LH00995:48:23YTGFLT4:1:2349:3840:21780,LH00995:48:23YTGFLT4:1:2368:9219:25157,LH00995:48:23YTGFLT4:1:2442:31249:15419,LH00995:48:23YTGFLT4:1:2474:24154:12546,LH00995:48:23YTGFLT4:1:2474:24162:12532,LH00995:48:23YTGFLT4:2:1462:21710:26755,LH00995:48:23YTGFLT4:2:1490:3605:18123,LH00995:48:23YTGFLT4:2:2205:45082:12560,LH00995:48:23YTGFLT4:2:2228:39622:6745,LH00995:48:23YTGFLT4:2:2240:7820:9449,LH00995:48:23YTGFLT4:2:2312:43934:27245,LH00995:48:23YTGFLT4:2:2401:37389:5848,LH00995:48:23YTGFLT4:3:1220:13580:25143,LH00995:48:23YTGFLT4:3:1240:20578:4531,LH00995:48:23YTGFLT4:3:1446:33489:9604,LH00995:48:23YTGFLT4:3:1496:43982:29683,LH00995:48:23YTGFLT4:3:2240:14826:23770,LH00995:48:23YTGFLT4:3:2392:45123:11005,LH00995:48:23YTGFLT4:3:2414:46029:25045,LH00995:48:23YTGFLT4:3:2480:23749:14087,LH00995:48:23YTGFLT4:3:2486:51061:21934,LH00995:48:23YTGFLT4:4:1165:25052:8076,LH00995:48:23YTGFLT4:4:1239:18814:21150,LH00995:48:23YTGFLT4:4:1352:46935:17198,LH00995:48:23YTGFLT4:4:2462:20748:5582,LH00995:48:23YTGFLT4:4:2462:20764:5582,LH00995:48:23YTGFLT4:5:1236:13103:16554,LH00995:48:23YTGFLT4:5:1295:41361:24330,LH00995:48:23YTGFLT4:5:1379:40706:26390,LH00995:48:23YTGFLT4:5:2181:3403:25395,LH00995:48:23YTGFLT4:5:2278:44160:23266,LH00995:48:23YTGFLT4:5:2380:30140:24989,LH00995:48:23YTGFLT4:5:2444:9883:28016,LH00995:48:23YTGFLT4:6:1150:40503:9505,LH00995:48:23YTGFLT4:6:1352:7634:3774,LH00995:48:23YTGFLT4:6:1354:12358:5288,LH00995:48:23YTGFLT4:6:1354:12366:5302,LH00995:48:23YTGFLT4:6:1372:30642:9716,LH00995:48:23YTGFLT4:6:1383:36030:15433,LH00995:48:23YTGFLT4:6:2149:20287:5148,LH00995:48:23YTGFLT4:6:2289:50131:17773,LH00995:48:23YTGFLT4:6:2496:29533:20323,LH00995:48:23YTGFLT4:7:1296:5328:17128,LH00995:48:23YTGFLT4:7:1335:18151:6605,LH00995:48:23YTGFLT4:7:1405:34007:7502,LH00995:48:23YTGFLT4:7:1409:35237:21934,LH00995:48:23YTGFLT4:7:2390:18159:9141,LH00995:48:23YTGFLT4:8:1184:39856:10038,LH00995:48:23YTGFLT4:8:1184:39864:10052,LH00995:48:23YTGFLT4:8:1260:32114:11846,LH00995:48:23YTGFLT4:8:1464:16630:20982,LH00995:48:23YTGFLT4:8:2205:48246:12070,LH00995:48:23YTGFLT4:8:2415:3443:17675,LH00995:48:23YTGFLT4:8:2458:36847:5918

NPEPPSP1

FP671120.4

-/-

+/+

chr17:38257108

chr21:8214653

exon

intron

translocation

9977

6576

low

ENSG00000274487.2

ENSG00000278996.1

ENST00000649858.1

upstream

duplicates(21),mismappers(1),mismatches(13)

CCGCCCCCCAGGCTCCCCCGGTCGCTCTCCTCCGGCGGTCGCCCGCGCTCGGTGGATGTGGCTGGCAGCTGCCGCCCCCTCCCTCGCTCGCCGCCTGCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

LH00995:48:23YTGFLT4:1:1206:39573:29025,LH00995:48:23YTGFLT4:1:2138:41515:25998,LH00995:48:23YTGFLT4:1:2208:28805:3396,LH00995:48:23YTGFLT4:1:2210:21921:23223,LH00995:48:23YTGFLT4:1:2309:42162:2233,LH00995:48:23YTGFLT4:1:2442:36984:1813,LH00995:48:23YTGFLT4:1:2476:49305:28478,LH00995:48:23YTGFLT4:2:1147:4649:21472,LH00995:48:23YTGFLT4:2:1224:23773:1659,LH00995:48:23YTGFLT4:2:1371:17908:16049,LH00995:48:23YTGFLT4:2:1371:17916:16063,LH00995:48:23YTGFLT4:2:1419:35027:17787,LH00995:48:23YTGFLT4:2:1471:25586:10290,LH00995:48:23YTGFLT4:2:2119:30003:13597,LH00995:48:23YTGFLT4:2:2209:43181:6213,LH00995:48:23YTGFLT4:2:2387:32227:24457,LH00995:48:23YTGFLT4:2:2395:11582:3298,LH00995:48:23YTGFLT4:3:1277:3734:7081,LH00995:48:23YTGFLT4:3:1423:44395:4419,LH00995:48:23YTGFLT4:3:1443:4988:26797,LH00995:48:23YTGFLT4:3:1467:37672:21164,LH00995:48:23YTGFLT4:3:1469:38788:24078,LH00995:48:23YTGFLT4:3:2157:18038:2625,LH00995:48:23YTGFLT4:3:2401:31742:23784,LH00995:48:23YTGFLT4:4:1189:44184:21234,LH00995:48:23YTGFLT4:4:1269:37146:26755,LH00995:48:23YTGFLT4:4:1365:42275:20757,LH00995:48:23YTGFLT4:4:1417:34857:29039,LH00995:48:23YTGFLT4:4:1417:34873:29039,LH00995:48:23YTGFLT4:4:1458:45624:28100,LH00995:48:23YTGFLT4:4:2239:20270:9379,LH00995:48:23YTGFLT4:4:2277:20715:9758,LH00995:48:23YTGFLT4:4:2290:18410:15881,LH00995:48:23YTGFLT4:5:1235:5587:15391,LH00995:48:23YTGFLT4:5:2260:22285:23658,LH00995:48:23YTGFLT4:6:1129:4009:10472,LH00995:48:23YTGFLT4:6:1140:24501:15363,LH00995:48:23YTGFLT4:6:1214:28190:29151,LH00995:48:23YTGFLT4:6:1264:20351:2317,LH00995:48:23YTGFLT4:6:1355:36774:4811,LH00995:48:23YTGFLT4:6:1423:51069:9337,LH00995:48:23YTGFLT4:6:2144:45455:3144,LH00995:48:23YTGFLT4:6:2210:32260:14900,LH00995:48:23YTGFLT4:6:2240:29752:9491,LH00995:48:23YTGFLT4:6:2291:3710:22425,LH00995:48:23YTGFLT4:6:2431:39516:25956,LH00995:48:23YTGFLT4:6:2494:15675:10024,LH00995:48:23YTGFLT4:7:1466:11485:22159,LH00995:48:23YTGFLT4:7:1469:28716:10584,LH00995:48:23YTGFLT4:7:2412:23134:18095,LH00995:48:23YTGFLT4:7:2452:30383:11005,LH00995:48:23YTGFLT4:8:1264:3419:23658,LH00995:48:23YTGFLT4:8:1359:2845:21542,LH00995:48:23YTGFLT4:8:1366:23984:2976,LH00995:48:23YTGFLT4:8:1401:31621:9421,LH00995:48:23YTGFLT4:8:1450:29372:8384

ATN1

FP671120.4

+/+

chr12:6936427

chr21:8214653

CDS

intron

translocation

10405

6576

low

out-of-frame

Atrophin-1_family(16%)|

ENSG00000111676.15

ENSG00000278996.1

ENST00000356654.8

downstream

upstream

duplicates(9),mismatches(4)

TGGACTTCCTCCTGGCCCAGAGAAGGGCCCAACTCTGGCTCCTTCACCCCACTCTCTGCCTCCTGCTTCCTCTTCTGCTCCAGCGCCCCCCATGAGGTTTCCTTATTCATCCTCTAGTAGTAGCTCTGCAGCAGCCTCCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

GLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASs|svrpsvlll

LH00995:48:23YTGFLT4:1:2163:27009:8777,LH00995:48:23YTGFLT4:1:2385:11727:27820,LH00995:48:23YTGFLT4:2:1201:11121:19034,LH00995:48:23YTGFLT4:2:1232:7448:14774,LH00995:48:23YTGFLT4:2:1493:13329:28688,LH00995:48:23YTGFLT4:2:2106:22220:23742,LH00995:48:23YTGFLT4:2:2254:48197:2625,LH00995:48:23YTGFLT4:3:1232:32292:20617,LH00995:48:23YTGFLT4:3:1295:49936:18782,LH00995:48:23YTGFLT4:3:1353:5506:11411,LH00995:48:23YTGFLT4:3:1483:39452:14998,LH00995:48:23YTGFLT4:3:2481:36976:29599,LH00995:48:23YTGFLT4:4:2206:35124:24176,LH00995:48:23YTGFLT4:4:2223:23628:2247,LH00995:48:23YTGFLT4:4:2223:23636:2233,LH00995:48:23YTGFLT4:5:1259:12124:27637,LH00995:48:23YTGFLT4:5:1259:12132:27651,LH00995:48:23YTGFLT4:5:1340:43036:9856,LH00995:48:23YTGFLT4:5:2262:12698:9968,LH00995:48:23YTGFLT4:6:1124:45066:2303,LH00995:48:23YTGFLT4:6:1235:48537:11341,LH00995:48:23YTGFLT4:6:1296:43214:23560,LH00995:48:23YTGFLT4:6:1471:23239:19875,LH00995:48:23YTGFLT4:6:2235:46191:22046,LH00995:48:23YTGFLT4:6:2266:19081:23882,LH00995:48:23YTGFLT4:7:1464:7601:18684,LH00995:48:23YTGFLT4:7:2352:18329:16161,LH00995:48:23YTGFLT4:8:1246:5725:8370,LH00995:48:23YTGFLT4:8:1295:22123:23434,LH00995:48:23YTGFLT4:8:1304:19817:7249,LH00995:48:23YTGFLT4:8:1456:48626:18585

YES1

-/-

chr18:745704

chr18:745787

intron

CDS

duplication/ITD

366

460

low

in-frame

SH2_domain(100%),SH3_domain(100%)|Protein_kinase_domain(100%),SH2_domain(30%)

ENSG00000176105.14

ENST00000584307.5

upstream

downstream

duplicates(14)

GATGAGATAAGGGGTGACAATGTGAAACACTACAAAATTAGGAAACTTGACAATGGTGGATACTATATCACAACCAGAGCACAATTTGATACTCTGCAGAAATTGGTGAAACACTACAaAatTA|g|GAAACTTGACAATGGTGGATACTATATCACAACCAGAGCACAATTTGATACTCTGCAGAAATTGGTGAAACACTACAaAatTAg

DEIRGDNVKHYKIRKLDNGGYYITTRAQFDTLQKLVKHYki|r|KLDNGGYYITTRAQFDTLQKLVKHYki

LH00995:48:23YTGFLT4:1:1391:23943:15433,LH00995:48:23YTGFLT4:1:2314:22487:27091,LH00995:48:23YTGFLT4:2:2285:28393:27904,LH00995:48:23YTGFLT4:3:1397:40447:24765,LH00995:48:23YTGFLT4:3:1442:18466:26432,LH00995:48:23YTGFLT4:3:2159:50624:10697,LH00995:48:23YTGFLT4:3:2216:6137:9646,LH00995:48:23YTGFLT4:4:1426:52185:7572,LH00995:48:23YTGFLT4:4:2318:18272:9253,LH00995:48:23YTGFLT4:4:2351:10943:18165,LH00995:48:23YTGFLT4:5:1411:13669:22747,LH00995:48:23YTGFLT4:5:1479:6550:24933,LH00995:48:23YTGFLT4:6:2355:5773:5288,LH00995:48:23YTGFLT4:7:1125:17034:16442,LH00995:48:23YTGFLT4:7:1379:35358:26516,LH00995:48:23YTGFLT4:7:1424:29242:14774,LH00995:48:23YTGFLT4:8:2166:46296:29515,LH00995:48:23YTGFLT4:1:1391:23943:15433,LH00995:48:23YTGFLT4:1:2314:22487:27091,LH00995:48:23YTGFLT4:2:2285:28393:27904,LH00995:48:23YTGFLT4:3:1442:18466:26432,LH00995:48:23YTGFLT4:3:1442:18466:26432,LH00995:48:23YTGFLT4:3:2159:50624:10697,LH00995:48:23YTGFLT4:3:2216:6137:9646,LH00995:48:23YTGFLT4:4:1426:52185:7572,LH00995:48:23YTGFLT4:4:1426:52185:7572,LH00995:48:23YTGFLT4:4:2318:18272:9253,LH00995:48:23YTGFLT4:4:2351:10943:18165,LH00995:48:23YTGFLT4:6:2355:5773:5288,LH00995:48:23YTGFLT4:7:1125:17034:16442,LH00995:48:23YTGFLT4:7:1379:35358:26516,LH00995:48:23YTGFLT4:7:1424:29242:14774,LH00995:48:23YTGFLT4:8:2166:46296:29515

LENG8

FP236383.3

+/+

chr19:54458670

chr21:8399955

CDS

intron

translocation

11722

9660

low

out-of-frame

SAC3/GANP_family(84%)|

ENSG00000167615.17

ENSG00000280441.3

ENST00000376514.6

downstream

upstream

duplicates(16),mismatches(3)

CTACCTCGTGGACAAGTTTGCAGATCGGGAGCGCAAGGTCGCCCTCAAGGCCATGATCAAAACGTATGTGGTGCCAAGCTCCCTTCTGCCTTTGCTCTTCCCATCCTTCCGCCTCGCACCGCCCCTCAGACCAGCTCCTGGCCGCAGGCCTCCCCCAGCCCCCAACCCTTGTCCTGGTCCTTGCTTCCCCATCATCTTTCTCCATTCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCC

YLVDKFADRERKVALKAMIKTYVVPSSLLPLLFPSFRLAPPLRPAPGRRPPPAPNPCPGPCFPIIFLHSA|prplslslp

LH00995:48:23YTGFLT4:1:1256:9058:21682,LH00995:48:23YTGFLT4:1:1392:44775:20239,LH00995:48:23YTGFLT4:1:2185:33142:8861,LH00995:48:23YTGFLT4:1:2295:43642:27385,LH00995:48:23YTGFLT4:2:1427:3831:14284,LH00995:48:23YTGFLT4:3:1257:32575:12868,LH00995:48:23YTGFLT4:3:1273:49605:18431,LH00995:48:23YTGFLT4:3:2186:7124:5358,LH00995:48:23YTGFLT4:3:2249:36717:3732,LH00995:48:23YTGFLT4:3:2319:19219:27371,LH00995:48:23YTGFLT4:3:2380:51506:13121,LH00995:48:23YTGFLT4:4:1341:5951:14284,LH00995:48:23YTGFLT4:4:1352:11865:16680,LH00995:48:23YTGFLT4:4:1352:11873:16694,LH00995:48:23YTGFLT4:4:1368:28312:11173,LH00995:48:23YTGFLT4:4:1435:39395:1448,LH00995:48:23YTGFLT4:4:1454:45188:27287,LH00995:48:23YTGFLT4:4:2236:25399:15236,LH00995:48:23YTGFLT4:4:2380:3702:25578,LH00995:48:23YTGFLT4:5:1335:37947:25592,LH00995:48:23YTGFLT4:5:1398:40520:8300,LH00995:48:23YTGFLT4:5:2189:27851:29039,LH00995:48:23YTGFLT4:5:2384:19817:14676,LH00995:48:23YTGFLT4:6:1141:6590:4097,LH00995:48:23YTGFLT4:6:1155:28716:7670,LH00995:48:23YTGFLT4:6:2141:12658:9057,LH00995:48:23YTGFLT4:6:2446:44241:9309,LH00995:48:23YTGFLT4:7:2158:50624:29165,LH00995:48:23YTGFLT4:7:2275:4293:1462,LH00995:48:23YTGFLT4:8:1258:3540:7726,LH00995:48:23YTGFLT4:8:2224:11930:13261,LH00995:48:23YTGFLT4:8:2254:41628:29165,LH00995:48:23YTGFLT4:8:2292:37049:22691,LH00995:48:23YTGFLT4:8:2408:8475:23504

WNK4

FP236383.3

+/+

chr17:42795139

chr21:8399951

CDS

intron

translocation

16392

9660

low

out-of-frame

Oxidative-stress-responsive_kinase_1_C-terminal_domain(100%),Protein_kinase_domain(100%)|

ENSG00000126562.17

ENSG00000280441.3

ENST00000246914.10

downstream

upstream

duplicates(19),mismatches(5)

CCTCAAATCCCTCTCCACACCCCACCAGCTCTCCACTTCCATTCTCCTCCAGCACACCCGAGTTTCCGGTCCCACTCTCTCAGTGTCCCTGGAGTTCTCTCCCCACGACTTCTCCACCTACGTTCTCTCCCACTTGTTCTCAGGTCACTCTTAGTTCCCCTTTCTTT|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCCG

SNPSPHPTSSPLPFSSSTPEFPVPLSQCPWSSLPTTSPPTFSPTCSQVTLSSPFF|aprplslslp

LH00995:48:23YTGFLT4:1:1223:24809:27469,LH00995:48:23YTGFLT4:1:1223:24817:27455,LH00995:48:23YTGFLT4:1:1224:16444:15475,LH00995:48:23YTGFLT4:1:2286:37001:2065,LH00995:48:23YTGFLT4:1:2290:29606:10276,LH00995:48:23YTGFLT4:1:2341:7351:2359,LH00995:48:23YTGFLT4:2:1183:13006:18263,LH00995:48:23YTGFLT4:2:1465:20715:24050,LH00995:48:23YTGFLT4:2:1483:16654:2135,LH00995:48:23YTGFLT4:2:2231:10967:25045,LH00995:48:23YTGFLT4:3:1327:44379:27848,LH00995:48:23YTGFLT4:3:1467:27454:17282,LH00995:48:23YTGFLT4:3:2362:24518:18641,LH00995:48:23YTGFLT4:4:1385:43141:28338,LH00995:48:23YTGFLT4:4:2304:47485:24344,LH00995:48:23YTGFLT4:4:2388:23110:17941,LH00995:48:23YTGFLT4:5:1176:45107:28941,LH00995:48:23YTGFLT4:5:1271:4705:7334,LH00995:48:23YTGFLT4:5:1465:22560:9225,LH00995:48:23YTGFLT4:5:1483:37858:4699,LH00995:48:23YTGFLT4:5:2124:2497:27721,LH00995:48:23YTGFLT4:5:2171:13620:22159,LH00995:48:23YTGFLT4:5:2448:41264:17072,LH00995:48:23YTGFLT4:6:1212:19858:11495,LH00995:48:23YTGFLT4:6:1476:17892:29277,LH00995:48:23YTGFLT4:6:2155:8588:2738,LH00995:48:23YTGFLT4:6:2164:3807:24751,LH00995:48:23YTGFLT4:6:2212:22527:8020,LH00995:48:23YTGFLT4:6:2390:24089:22579,LH00995:48:23YTGFLT4:7:1152:12957:18684,LH00995:48:23YTGFLT4:7:1438:28110:20883,LH00995:48:23YTGFLT4:8:1382:50470:25844,LH00995:48:23YTGFLT4:8:1382:50487:25844,LH00995:48:23YTGFLT4:8:2292:49305:24555,LH00995:48:23YTGFLT4:8:2346:44265:23280,LH00995:48:23YTGFLT4:8:2347:7512:22509,LH00995:48:23YTGFLT4:8:2372:41596:10668

NPIPA2

+/+

chr16:14765407

chr16:14765349

CDS

duplication/ITD

199

285

low

stop-codon

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000254852.8

ENST00000529166.5

downstream

upstream

duplicates(67)

-CCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCAAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCCAAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCG

LH00995:48:23YTGFLT4:1:1376:35091:6661,LH00995:48:23YTGFLT4:1:2223:35051:20099,LH00995:48:23YTGFLT4:1:2223:35051:20099,LH00995:48:23YTGFLT4:1:2223:35051:20099,LH00995:48:23YTGFLT4:1:2223:35051:20099,LH00995:48:23YTGFLT4:1:2360:39533:7964,LH00995:48:23YTGFLT4:1:2360:39533:7964,LH00995:48:23YTGFLT4:1:2360:39533:7964,LH00995:48:23YTGFLT4:1:2367:16962:6030,LH00995:48:23YTGFLT4:1:2367:16962:6030,LH00995:48:23YTGFLT4:1:2367:16962:6030,LH00995:48:23YTGFLT4:1:2367:16962:6030,LH00995:48:23YTGFLT4:1:2453:2270:13569,LH00995:48:23YTGFLT4:1:2453:2270:13569,LH00995:48:23YTGFLT4:1:2453:2270:13569,LH00995:48:23YTGFLT4:2:1139:28425:6381,LH00995:48:23YTGFLT4:2:1139:28425:6381,LH00995:48:23YTGFLT4:2:1139:28425:6381,LH00995:48:23YTGFLT4:2:1273:46320:28772,LH00995:48:23YTGFLT4:2:1273:46320:28772,LH00995:48:23YTGFLT4:2:1273:46320:28772,LH00995:48:23YTGFLT4:2:1328:1113:3887,LH00995:48:23YTGFLT4:2:1328:1113:3887,LH00995:48:23YTGFLT4:2:1328:1113:3887,LH00995:48:23YTGFLT4:2:2321:20812:17436,LH00995:48:23YTGFLT4:2:2321:20812:17436,LH00995:48:23YTGFLT4:2:2321:20812:17436,LH00995:48:23YTGFLT4:2:2492:9203:17927,LH00995:48:23YTGFLT4:2:2492:9203:17927,LH00995:48:23YTGFLT4:2:2492:9203:17927,LH00995:48:23YTGFLT4:3:1145:7585:24709,LH00995:48:23YTGFLT4:3:1145:7585:24709,LH00995:48:23YTGFLT4:3:1145:7585:24709,LH00995:48:23YTGFLT4:3:1145:7585:24709,LH00995:48:23YTGFLT4:3:1193:26200:5470,LH00995:48:23YTGFLT4:3:1193:26208:5484,LH00995:48:23YTGFLT4:3:1354:11347:28366,LH00995:48:23YTGFLT4:3:1354:11347:28366,LH00995:48:23YTGFLT4:3:1354:11347:28366,LH00995:48:23YTGFLT4:3:1470:22665:19132,LH00995:48:23YTGFLT4:3:1470:22665:19132,LH00995:48:23YTGFLT4:3:2379:24510:16442,LH00995:48:23YTGFLT4:4:1341:5886:15629,LH00995:48:23YTGFLT4:4:1341:5886:15629,LH00995:48:23YTGFLT4:4:1341:5886:15629,LH00995:48:23YTGFLT4:4:1341:5886:15629,LH00995:48:23YTGFLT4:4:2317:43003:15769,LH00995:48:23YTGFLT4:4:2317:43003:15769,LH00995:48:23YTGFLT4:4:2317:43003:15769,LH00995:48:23YTGFLT4:5:2386:46903:9183,LH00995:48:23YTGFLT4:5:2389:16759:8202,LH00995:48:23YTGFLT4:5:2389:16759:8202,LH00995:48:23YTGFLT4:5:2389:16759:8202,LH00995:48:23YTGFLT4:6:1353:39185:8427,LH00995:48:23YTGFLT4:6:1353:39185:8427,LH00995:48:23YTGFLT4:6:1353:39185:8427,LH00995:48:23YTGFLT4:6:1353:39185:8427,LH00995:48:23YTGFLT4:6:1359:4187:18908,LH00995:48:23YTGFLT4:6:1359:4187:18908,LH00995:48:23YTGFLT4:6:1359:4187:18908,LH00995:48:23YTGFLT4:7:2387:36483:3634,LH00995:48:23YTGFLT4:7:2387:36483:3634,LH00995:48:23YTGFLT4:7:2387:36483:3634,LH00995:48:23YTGFLT4:7:2387:36483:3634,LH00995:48:23YTGFLT4:8:1175:43691:12364,LH00995:48:23YTGFLT4:8:1175:43691:12364,LH00995:48:23YTGFLT4:8:1175:43691:12364,LH00995:48:23YTGFLT4:8:1242:9850:20169,LH00995:48:23YTGFLT4:8:1242:9867:20169,LH00995:48:23YTGFLT4:8:1437:44937:28758,LH00995:48:23YTGFLT4:8:1437:44937:28758,LH00995:48:23YTGFLT4:8:1437:44937:28758,LH00995:48:23YTGFLT4:8:2219:37073:22593,LH00995:48:23YTGFLT4:8:2219:37073:22593,LH00995:48:23YTGFLT4:8:2219:37073:22593,LH00995:48:23YTGFLT4:1:2360:39533:7964,LH00995:48:23YTGFLT4:4:1241:36450:22103,LH00995:48:23YTGFLT4:5:1202:37308:2177

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

664

439

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

duplicates(13)

CATGCTGTGCTGAAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCACGAT

HAVLKLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvswpr

LH00995:48:23YTGFLT4:4:2425:14696:17128,LH00995:48:23YTGFLT4:5:1415:43748:7894,LH00995:48:23YTGFLT4:6:2189:31127:22691,LH00995:48:23YTGFLT4:6:2323:31346:15026,LH00995:48:23YTGFLT4:7:1483:12237:15503,LH00995:48:23YTGFLT4:7:1483:13863:15881,LH00995:48:23YTGFLT4:7:2434:47275:4839,LH00995:48:23YTGFLT4:8:2317:3702:19496,LH00995:48:23YTGFLT4:1:1192:2796:4363,LH00995:48:23YTGFLT4:2:1143:5045:14172,LH00995:48:23YTGFLT4:3:1130:25254:10108,LH00995:48:23YTGFLT4:4:1457:22180:10977,LH00995:48:23YTGFLT4:4:2328:35010:24653,LH00995:48:23YTGFLT4:4:2355:18272:16343,LH00995:48:23YTGFLT4:4:2360:46984:18936,LH00995:48:23YTGFLT4:4:2377:46458:21864,LH00995:48:23YTGFLT4:4:2417:17196:24457,LH00995:48:23YTGFLT4:6:1127:31629:1560,LH00995:48:23YTGFLT4:6:2325:1089:19258,LH00995:48:23YTGFLT4:7:2374:45802:11061,LH00995:48:23YTGFLT4:8:1150:48326:18964,LH00995:48:23YTGFLT4:8:1236:5466:9744

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

936

144

low

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(10)

CACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAG

LH00995:48:23YTGFLT4:1:1222:41037:10626,LH00995:48:23YTGFLT4:2:1238:10166:22173,LH00995:48:23YTGFLT4:2:2179:32939:14592,LH00995:48:23YTGFLT4:2:2264:22989:20253,LH00995:48:23YTGFLT4:2:2465:22883:25732,LH00995:48:23YTGFLT4:4:1202:17156:20659,LH00995:48:23YTGFLT4:8:1482:31014:15405,LH00995:48:23YTGFLT4:8:1482:33166:16722,LH00995:48:23YTGFLT4:8:1482:33174:16708,LH00995:48:23YTGFLT4:8:2246:31766:5358,LH00995:48:23YTGFLT4:4:1190:2311:10528,LH00995:48:23YTGFLT4:4:2140:37502:2485,LH00995:48:23YTGFLT4:6:1330:49176:16988,LH00995:48:23YTGFLT4:6:2170:15740:14620,LH00995:48:23YTGFLT4:7:1332:21314:22285,LH00995:48:23YTGFLT4:8:2169:43691:10402,LH00995:48:23YTGFLT4:8:2169:43707:10402,LH00995:48:23YTGFLT4:8:2169:43723:10402

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

292

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(10)

TCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG___TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACGA

LH00995:48:23YTGFLT4:1:1175:33870:6086,LH00995:48:23YTGFLT4:1:2113:44565:23546,LH00995:48:23YTGFLT4:2:1156:2294:3550,LH00995:48:23YTGFLT4:3:1471:9672:23840,LH00995:48:23YTGFLT4:3:2286:38780:1673,LH00995:48:23YTGFLT4:4:1389:40528:24877,LH00995:48:23YTGFLT4:5:2114:26419:26446,LH00995:48:23YTGFLT4:5:2149:5191:8006,LH00995:48:23YTGFLT4:6:2406:23595:26460,LH00995:48:23YTGFLT4:6:2491:7286:5918,LH00995:48:23YTGFLT4:7:1258:9195:22341,LH00995:48:23YTGFLT4:7:2262:50001:27553,LH00995:48:23YTGFLT4:8:1264:33255:9421,LH00995:48:23YTGFLT4:8:1264:33263:9407,LH00995:48:23YTGFLT4:8:1295:16929:13401,LH00995:48:23YTGFLT4:8:2440:19526:17563,LH00995:48:23YTGFLT4:3:2406:35641:23868

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

106

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

duplicates(11),mismappers(2)

CGTACCCAGCCTGG___GTAATATAGCTGCTGCTGGAAGTGACGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTtCCTCACTCTTGGCACAATGGAGAGAGGT

LH00995:48:23YTGFLT4:2:1188:13070:26502,LH00995:48:23YTGFLT4:2:2187:28320:28002,LH00995:48:23YTGFLT4:2:2293:24744:7320,LH00995:48:23YTGFLT4:2:2349:22228:4783,LH00995:48:23YTGFLT4:3:2340:19502:17408,LH00995:48:23YTGFLT4:4:1151:33473:15601,LH00995:48:23YTGFLT4:4:1274:5660:5232,LH00995:48:23YTGFLT4:4:2364:26289:26699,LH00995:48:23YTGFLT4:5:1289:42599:18655,LH00995:48:23YTGFLT4:6:1273:23587:22523,LH00995:48:23YTGFLT4:6:1273:23595:22537,LH00995:48:23YTGFLT4:6:1336:13006:22103,LH00995:48:23YTGFLT4:6:1410:3937:9730,LH00995:48:23YTGFLT4:6:2227:25820:21150,LH00995:48:23YTGFLT4:6:2234:30059:19384,LH00995:48:23YTGFLT4:7:1489:17099:22159,LH00995:48:23YTGFLT4:7:1489:17115:22159,LH00995:48:23YTGFLT4:8:1353:13847:3634,LH00995:48:23YTGFLT4:8:2374:44241:11243

CRYZL2P

SEC16B

-/-

chr1:178022440

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

106

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

duplicates(4)

CTGCCAGCAAGGGTGCATCCAGCTATATGTCAGAATGGTTTTCAAGCTGGACGAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAG

LH00995:48:23YTGFLT4:1:2355:6728:2037,LH00995:48:23YTGFLT4:1:2420:46264:9926,LH00995:48:23YTGFLT4:3:1229:22325:22467,LH00995:48:23YTGFLT4:3:1335:6339:24989,LH00995:48:23YTGFLT4:3:1491:20829:4013,LH00995:48:23YTGFLT4:4:2212:47606:28562,LH00995:48:23YTGFLT4:7:1405:43489:2345

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

1345

2571

low

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(14),mismappers(1)

CCGGGAGCTGGTGGAAAAGTCAG___GTGACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAAAGTGAAACGATCTGTGAAAGATGCTGCCAAGAAGGGCCAGAAGGATGTCTGCATAGT

RELVEKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDAAKKGQKDVCI

LH00995:48:23YTGFLT4:2:1270:45349:24401,LH00995:48:23YTGFLT4:2:2304:40382:7698,LH00995:48:23YTGFLT4:2:2342:1502:19833,LH00995:48:23YTGFLT4:2:2434:6550:14928,LH00995:48:23YTGFLT4:3:1417:24857:7235,LH00995:48:23YTGFLT4:4:1459:26362:17941,LH00995:48:23YTGFLT4:4:2188:17746:1336,LH00995:48:23YTGFLT4:6:2459:7521:27315,LH00995:48:23YTGFLT4:7:1155:41685:8384,LH00995:48:23YTGFLT4:7:2126:51482:3774,LH00995:48:23YTGFLT4:8:1107:39945:3410,LH00995:48:23YTGFLT4:8:2153:10700:15363,LH00995:48:23YTGFLT4:8:2173:33886:3985,LH00995:48:23YTGFLT4:1:2340:16525:28646,LH00995:48:23YTGFLT4:3:1352:31936:7278,LH00995:48:23YTGFLT4:4:2409:29752:4447,LH00995:48:23YTGFLT4:5:2372:42073:19931,LH00995:48:23YTGFLT4:6:1153:21201:26124,LH00995:48:23YTGFLT4:6:1242:36539:3452,LH00995:48:23YTGFLT4:6:1242:36547:3466,LH00995:48:23YTGFLT4:6:2129:39719:26278

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

3369

2669

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)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

duplicates(9),low_entropy(1)

GGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTA

GNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:2:1150:49920:5498,LH00995:48:23YTGFLT4:3:2322:26039:2051,LH00995:48:23YTGFLT4:4:1495:41337:6521,LH00995:48:23YTGFLT4:6:1134:43586:15208,LH00995:48:23YTGFLT4:6:2220:25424:4881,LH00995:48:23YTGFLT4:7:1203:38109:13149,LH00995:48:23YTGFLT4:7:1495:30593:23784,LH00995:48:23YTGFLT4:8:1211:19850:12406,LH00995:48:23YTGFLT4:8:2144:8451:17492,LH00995:48:23YTGFLT4:1:1389:45471:22733,LH00995:48:23YTGFLT4:1:1415:36936:10472,LH00995:48:23YTGFLT4:1:2277:50964:21178,LH00995:48:23YTGFLT4:1:2495:34096:25339,LH00995:48:23YTGFLT4:2:1234:14332:6297,LH00995:48:23YTGFLT4:2:2338:11865:7824,LH00995:48:23YTGFLT4:8:1235:6655:12812

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

3369

1902

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)

CGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGC?GCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGG

AACTSQELRSLFER?GRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKE

LH00995:48:23YTGFLT4:1:1254:43230:9155,LH00995:48:23YTGFLT4:5:1260:46781:24358,LH00995:48:23YTGFLT4:5:1372:31216:14298,LH00995:48:23YTGFLT4:1:1461:9842:9533,LH00995:48:23YTGFLT4:2:2280:51320:8735,LH00995:48:23YTGFLT4:4:2369:15659:28352,LH00995:48:23YTGFLT4:5:2316:39039:15545,LH00995:48:23YTGFLT4:6:2444:17957:28520

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3369

3139

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(377),read_through(223)

AGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGC

RPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

LH00995:48:23YTGFLT4:1:1123:26168:23322,LH00995:48:23YTGFLT4:1:1133:42995:5666,LH00995:48:23YTGFLT4:1:1141:42534:15208,LH00995:48:23YTGFLT4:1:1144:4503:17408,LH00995:48:23YTGFLT4:1:1148:46393:17016,LH00995:48:23YTGFLT4:1:1149:10045:2205,LH00995:48:23YTGFLT4:1:1149:42154:13401,LH00995:48:23YTGFLT4:1:1151:40552:19678,LH00995:48:23YTGFLT4:1:1158:17641:20491,LH00995:48:23YTGFLT4:1:1172:46959:5078,LH00995:48:23YTGFLT4:1:1176:43003:7642,LH00995:48:23YTGFLT4:1:1184:9511:18319,LH00995:48:23YTGFLT4:1:1197:21694:9547,LH00995:48:23YTGFLT4:1:1197:30221:17478,LH00995:48:23YTGFLT4:1:1209:14138:25157,LH00995:48:23YTGFLT4:1:1225:35423:17072,LH00995:48:23YTGFLT4:1:1241:46425:6731,LH00995:48:23YTGFLT4:1:1247:39136:26530,LH00995:48:23YTGFLT4:1:1304:15910:10010,LH00995:48:23YTGFLT4:1:1325:39136:15012,LH00995:48:23YTGFLT4:1:1327:27309:22999,LH00995:48:23YTGFLT4:1:1334:43270:26657,LH00995:48:23YTGFLT4:1:1344:23070:4979,LH00995:48:23YTGFLT4:1:1366:23765:25297,LH00995:48:23YTGFLT4:1:1376:19720:7390,LH00995:48:23YTGFLT4:1:1377:24963:6941,LH00995:48:23YTGFLT4:1:1377:27066:22551,LH00995:48:23YTGFLT4:1:1378:36345:12896,LH00995:48:23YTGFLT4:1:1391:6525:16540,LH00995:48:23YTGFLT4:1:1428:9422:9029,LH00995:48:23YTGFLT4:1:1497:22261:9912,LH00995:48:23YTGFLT4:1:1497:22269:9926,LH00995:48:23YTGFLT4:1:2107:31168:13513,LH00995:48:23YTGFLT4:1:2159:34671:4391,LH00995:48:23YTGFLT4:1:2164:17512:27946,LH00995:48:23YTGFLT4:1:2178:15085:9702,LH00995:48:23YTGFLT4:1:2184:44629:23686,LH00995:48:23YTGFLT4:1:2188:51134:3536,LH00995:48:23YTGFLT4:1:2191:24526:7978,LH00995:48:23YTGFLT4:1:2192:41062:19776,LH00995:48:23YTGFLT4:1:2197:30480:16357,LH00995:48:23YTGFLT4:1:2203:14324:16540,LH00995:48:23YTGFLT4:1:2204:18669:13415,LH00995:48:23YTGFLT4:1:2228:39953:27609,LH00995:48:23YTGFLT4:1:2250:3435:16259,LH00995:48:23YTGFLT4:1:2251:1097:19524,LH00995:48:23YTGFLT4:1:2276:16646:16357,LH00995:48:23YTGFLT4:1:2276:39800:10220,LH00995:48:23YTGFLT4:1:2286:21379:7039,LH00995:48:23YTGFLT4:1:2291:11040:21948,LH00995:48:23YTGFLT4:1:2324:46992:14914,LH00995:48:23YTGFLT4:1:2329:25068:12924,LH00995:48:23YTGFLT4:1:2341:33109:12728,LH00995:48:23YTGFLT4:1:2375:15174:11033,LH00995:48:23YTGFLT4:1:2376:37478:26993,LH00995:48:23YTGFLT4:1:2391:41296:28534,LH00995:48:23YTGFLT4:1:2437:26459:14746,LH00995:48:23YTGFLT4:1:2453:2553:15881,LH00995:48:23YTGFLT4:1:2474:16460:23602,LH00995:48:23YTGFLT4:1:2474:16476:23602,LH00995:48:23YTGFLT4:2:1104:32648:23420,LH00995:48:23YTGFLT4:2:1105:32907:17338,LH00995:48:23YTGFLT4:2:1112:47194:27259,LH00995:48:23YTGFLT4:2:1148:7828:11061,LH00995:48:23YTGFLT4:2:1152:17860:6969,LH00995:48:23YTGFLT4:2:1152:20545:20253,LH00995:48:23YTGFLT4:2:1174:8014:28366,LH00995:48:23YTGFLT4:2:1179:29453:16624,LH00995:48:23YTGFLT4:2:1206:48812:19188,LH00995:48:23YTGFLT4:2:1227:48990:13135,LH00995:48:23YTGFLT4:2:1243:36483:25662,LH00995:48:23YTGFLT4:2:1274:2440:25998,LH00995:48:23YTGFLT4:2:1285:19987:18894,LH00995:48:23YTGFLT4:2:1295:48391:7446,LH00995:48:23YTGFLT4:2:1302:22786:15867,LH00995:48:23YTGFLT4:2:1303:7553:17927,LH00995:48:23YTGFLT4:2:1406:39646:13681,LH00995:48:23YTGFLT4:2:1420:18491:5372,LH00995:48:23YTGFLT4:2:1424:24493:15573,LH00995:48:23YTGFLT4:2:1432:34169:18291,LH00995:48:23YTGFLT4:2:1444:19316:9043,LH00995:48:23YTGFLT4:2:1450:13224:26040,LH00995:48:23YTGFLT4:2:1457:16994:4209,LH00995:48:23YTGFLT4:2:1489:17625:15363,LH00995:48:23YTGFLT4:2:1495:7100:7754,LH00995:48:23YTGFLT4:2:1497:16436:6773,LH00995:48:23YTGFLT4:2:2112:11177:2037,LH00995:48:23YTGFLT4:2:2116:10215:1995,LH00995:48:23YTGFLT4:2:2138:17673:22313,LH00995:48:23YTGFLT4:2:2143:27171:4741,LH00995:48:23YTGFLT4:2:2162:31386:6353,LH00995:48:23YTGFLT4:2:2180:39225:16652,LH00995:48:23YTGFLT4:2:2189:4131:8637,LH00995:48:23YTGFLT4:2:2223:25642:14788,LH00995:48:23YTGFLT4:2:2225:10376:11551,LH00995:48:23YTGFLT4:2:2225:5878:13429,LH00995:48:23YTGFLT4:2:2236:50972:29655,LH00995:48:23YTGFLT4:2:2241:33384:19258,LH00995:48:23YTGFLT4:2:2288:39759:5386,LH00995:48:23YTGFLT4:2:2303:23895:8679,LH00995:48:23YTGFLT4:2:2332:35334:27315,LH00995:48:23YTGFLT4:2:2342:10894:13149,LH00995:48:23YTGFLT4:2:2357:9325:10374,LH00995:48:23YTGFLT4:2:2361:9414:1617,LH00995:48:23YTGFLT4:2:2374:9446:16357,LH00995:48:23YTGFLT4:2:2376:40503:19538,LH00995:48:23YTGFLT4:2:2391:19291:15923,LH00995:48:23YTGFLT4:2:2398:32292:17955,LH00995:48:23YTGFLT4:2:2404:4301:26671,LH00995:48:23YTGFLT4:2:2405:29582:6647,LH00995:48:23YTGFLT4:2:2485:5425:25620,LH00995:48:23YTGFLT4:3:1102:43432:10458,LH00995:48:23YTGFLT4:3:1138:4495:20813,LH00995:48:23YTGFLT4:3:1148:16622:11131,LH00995:48:23YTGFLT4:3:1157:29493:3074,LH00995:48:23YTGFLT4:3:1164:5272:9800,LH00995:48:23YTGFLT4:3:1167:32664:28184,LH00995:48:23YTGFLT4:3:1188:41490:6787,LH00995:48:23YTGFLT4:3:1190:9551:22313,LH00995:48:23YTGFLT4:3:1190:9559:22299,LH00995:48:23YTGFLT4:3:1212:26039:29319,LH00995:48:23YTGFLT4:3:1227:7100:23532,LH00995:48:23YTGFLT4:3:1231:33578:19762,LH00995:48:23YTGFLT4:3:1238:11024:19342,LH00995:48:23YTGFLT4:3:1238:17471:8202,LH00995:48:23YTGFLT4:3:1269:28943:12798,LH00995:48:23YTGFLT4: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0:1911,LH00995:48:23YTGFLT4:5:2356:15020:18109,LH00995:48:23YTGFLT4:5:2390:27568:4251,LH00995:48:23YTGFLT4:5:2430:1307:10584,LH00995:48:23YTGFLT4:5:2484:30731:15979,LH00995:48:23YTGFLT4:6:1106:13014:16820,LH00995:48:23YTGFLT4:6:1112:14810:26825,LH00995:48:23YTGFLT4:6:1134:33352:3648,LH00995:48:23YTGFLT4:6:1134:33360:3662,LH00995:48:23YTGFLT4:6:1137:40576:22831,LH00995:48:23YTGFLT4:6:1171:19130:22481,LH00995:48:23YTGFLT4:6:1186:50503:4713,LH00995:48:23YTGFLT4:6:1187:19550:15951,LH00995:48:23YTGFLT4:6:1217:22414:6171,LH00995:48:23YTGFLT4:6:1227:26945:6535,LH00995:48:23YTGFLT4:6:1301:35779:10290,LH00995:48:23YTGFLT4:6:1328:3111:21360,LH00995:48:23YTGFLT4:6:1357:48593:26124,LH00995:48:23YTGFLT4:6:1392:26718:12784,LH00995:48:23YTGFLT4:6:1392:26734:12784,LH00995:48:23YTGFLT4:6:1392:26742:12798,LH00995:48:23YTGFLT4:6:1415:36782:12140,LH00995:48:23YTGFLT4:6:1468:10603:10150,LH00995:48:23YTGFLT4:6:1489:29906:4349,LH00995:48:23YTGFLT4:6:2103:16824:25858,LH00995:48:23YTGFLT4:6:2166:46215:27497,LH00995:48:23YTGFLT4:6:2176:18175:19762,LH00995:48:23YTGFLT4:6:2180:9406:20155,LH00995:48:23YTGFLT4:6:2192:41086:17016,LH00995:48:23YTGFLT4:6:2208:45689:2149,LH00995:48:23YTGFLT4:6:2222:35124:27876,LH00995:48:23YTGFLT4:6:2222:35132:27862,LH00995:48:23YTGFLT4:6:2229:23741:13961,LH00995:48:23YTGFLT4:6:2263:17188:18445,LH00995:48:23YTGFLT4:6:2271:32300:16428,LH00995:48:23YTGFLT4:6:2272:47283:20827,LH00995:48:23YTGFLT4:6:2291:43804:15391,LH00995:48:23YTGFLT4:6:2297:49775:20491,LH00995:48:23YTGFLT4:6:2308:40050:12952,LH00995:48:23YTGFLT4:6:2312:30440:22425,LH00995:48:23YTGFLT4:6:2327:24210:13625,LH00995:48:23YTGFLT4:6:2377:34355:27862,LH00995:48:23YTGFLT4:6:2379:39751:17310,LH00995:48:23YTGFLT4:6:2379:5886:6773,LH00995:48:23YTGFLT4:6:2387:32672:14522,LH00995:48:23YTGFLT4:6:2416:11962:26544,LH00995:48:23YTGFLT4:6:2425:42510:22453,LH00995:48:23YTGFLT4:6:2427:3670:21598,LH00995:48:23YTGFLT4:6:2446:18571:9127,LH00995:48:23YTGFLT4:6:2490:12933:7740,LH00995:48:23YTGFLT4:6:2490:12941:7754,LH00995:48:23YTGFLT4:7:1133:17204:29179,LH00995:48:23YTGFLT4:7:1133:17220:29179,LH00995:48:23YTGFLT4:7:1158:1291:5484,LH00995:48:23YTGFLT4:7:1158:34743:14998,LH00995:48:23YTGFLT4:7:1161:25456:25423,LH00995:48:23YTGFLT4:7:1161:25464:25409,LH00995:48:23YTGFLT4:7:1177:35900:14956,LH00995:48:23YTGFLT4:7:1177:35908:14942,LH00995:48:23YTGFLT4:7:1245:28708:28282,LH00995:48:23YTGFLT4:7:1270:34509:7614,LH00995:48:23YTGFLT4:7:1270:34517:7628,LH00995:48:23YTGFLT4:7:1287:16832:26937,LH00995:48:23YTGFLT4:7:1297:5846:14858,LH00995:48:23YTGFLT4:7:1328:32802:18557,LH00995:48:23YTGFLT4:7:1332:9260:7600,LH00995:48:23YTGFLT4:7:1340:3840:16512,LH00995:48:23YTGFLT4:7:1340:3856:16512,LH00995:48:23YTGFLT4:7:1356:15473:21472,LH00995:48:23YTGFLT4:7:1379:4794:20351,LH00995:48:23YTGFLT4:7:1395:14009:8791,LH00995:48:23YTGFLT4:7:1450:5725:23616,LH00995:48:23YTGFLT4:7:2126:23336:8609,LH00995:48:23YTGFLT4:7:2126:23345:8595,LH00995:48:23YTGFLT4:7:2149:11671:11299,LH00995:48:23YTGFLT4:7:2189:6938:11874,LH00995:48:23YTGFLT4:7:2197:18838:28058,LH00995:48:23YTGFLT4:7:2210:28304:14017,LH00995:48:23YTGFLT4:7:2232:26500:16049,LH00995:48:23YTGFLT4:7:2245:26168:2667,LH00995:48:23YTGFLT4:7:2248:3645:6843,LH00995:48:23YTGFLT4:7:2256:35018:13569,LH00995:48:23YTGFLT4:7:2265:40908:16035,LH00995:48:23YTGFLT4:7:2304:50794:11635,LH00995:48:23YTGFLT4:7:2315:51077:7950,LH00995:48:23YTGFLT4:7:2323:9503:4489,LH00995:48:23YTGFLT4:7:2326:31305:10640,LH00995:48:23YTGFLT4:7:2397:31564:10697,LH00995:48:23YTGFLT4:7:2425:22536:17086,LH00995:48:23YTGFLT4:7:2428:17576:21248,LH00995:48:23YTGFLT4:7:2442:14834:18123,LH00995:48:23YTGFLT4:7:2445:37615:16414,LH00995:48:23YTGFLT4:7:2466:46773:2569,LH00995:48:23YTGFLT4:7:2488:11153:7908,LH00995:48:23YTGFLT4:7:2488:41693:5064

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

3139

low

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

ENST00000461478.1

ENST00000396053.9

downstream

upstream

duplicates(6),read_through(3)

GCCGCCCTCCTGTTCtCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAGCTTCATGGGGTGAACATCAACG

LH00995:48:23YTGFLT4:1:1123:11517:12574,LH00995:48:23YTGFLT4:1:1155:9357:9842,LH00995:48:23YTGFLT4:1:1304:44678:19398,LH00995:48:23YTGFLT4:1:2412:11622:25283,LH00995:48:23YTGFLT4:2:2472:21265:27105,LH00995:48:23YTGFLT4:3:2317:22495:8132,LH00995:48:23YTGFLT4:3:2342:7982:20855,LH00995:48:23YTGFLT4:8:1410:14672:12126,LH00995:48:23YTGFLT4:8:2307:41968:18459

RBM14

RBM4

+/+

chr11:66624324

chr11:66646027

CDS/splice-site

deletion/read-through

2779

2669

low

in-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000393979.3

ENST00000398692.8

downstream

upstream

duplicates(1),low_entropy(1)

CTCCACCAAGG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGG

STK|gGMCVG*

LH00995:48:23YTGFLT4:1:1432:31483:14900,LH00995:48:23YTGFLT4:2:2436:6469:16666

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1096

3139

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|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(1),read_through(1)

GGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGG

AVAMSKr|llsgw*

LH00995:48:23YTGFLT4:1:2122:4543:8931,LH00995:48:23YTGFLT4:8:1420:44961:26362

LINC01429

SALL4

-/-

chr20:51862825

chr20:51792352

exon/splice-site

CDS/splice-site

deletion/read-through

low

|Zinc_finger__C2H2_type(100%)

ENSG00000227964.1

ENSG00000101115.13

ENST00000438154.1

ENST00000217086.9

upstream

downstream

duplicates(3)

GCCTTCCCTTCATTGTCTCCCCTTTCTGCTGGCTGGATGGGGATGTGGAGGAGAGGACCCTTGGACCATGGGGATGGGAGCAACGTGCCAGGCATGGCAGCGCAATAGAG|GTGCTCCAGTGAACCACCCAGGGAATGACGAGGTGGCGAGTGAGGATGAAGCCACAGTAAAGCGGCTTCGTCGGGAGGAGACGCACGTCTGTGAGAAATGCTGTGCGGAGTTCTTCAGCATCTCTGAGTTCCTGGAACATAAGAAAA

LH00995:48:23YTGFLT4:4:2242:37640:24835,LH00995:48:23YTGFLT4:5:2376:49637:10360,LH00995:48:23YTGFLT4:6:2253:50673:3102,LH00995:48:23YTGFLT4:7:2313:33764:21234,LH00995:48:23YTGFLT4:5:1166:44047:24415,LH00995:48:23YTGFLT4:7:1238:15344:26572

DNAAF4

CCPG1

-/-

chr15:55432497

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

701

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000321149.7

ENST00000310958.10

upstream

downstream

duplicates(10)

GCCACCTGTTACAGACAATGCTAATGCAAGAATGAAGGCAtATGTACGACGTGGAACAGCATTCTGTCAACTAGAATTGTATGTAGAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGTTCATCTTTAGAGCAAGAGGAGtTTCAAGCATTGCAGATAGAGCAAGGAG___AAAGCAGCCAAAATGGCACAGTGCTTATGGAAGAAACTGCTTATCCAGCTTTGGAG

PPVTDNANARMKAyVRRGTAFCQLELYVE|dlkdv*

LH00995:48:23YTGFLT4:1:1301:25763:27721,LH00995:48:23YTGFLT4:2:2404:11169:26320,LH00995:48:23YTGFLT4:4:1359:20287:25045,LH00995:48:23YTGFLT4:4:1359:20303:25045,LH00995:48:23YTGFLT4:6:1176:21597:6745,LH00995:48:23YTGFLT4:6:2373:15570:17016,LH00995:48:23YTGFLT4:7:1473:6364:25704,LH00995:48:23YTGFLT4:7:1473:6380:25704,LH00995:48:23YTGFLT4:7:1473:6388:25718,LH00995:48:23YTGFLT4:7:2490:19235:23223,LH00995:48:23YTGFLT4:8:1428:33643:14045,LH00995:48:23YTGFLT4:8:1428:33643:14073,LH00995:48:23YTGFLT4:3:1481:47574:9029

DNAAF4

CCPG1

-/-

chr15:55434905

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

701

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000448430.6

ENST00000310958.10

upstream

downstream

duplicates(8)

CTATTGTATTTGAACCGGGCTGCTTGCCACCTAAAACTAAAAAACTTACACAAGGCTATTGAAGATTCTTCTAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGTTC

LLYLNRAACHLKLKNLHKAIEDSSK|t*

LH00995:48:23YTGFLT4:2:2144:47566:15601,LH00995:48:23YTGFLT4:2:2379:9397:5848,LH00995:48:23YTGFLT4:6:1175:28579:18361,LH00995:48:23YTGFLT4:6:1196:25569:14606,LH00995:48:23YTGFLT4:6:2405:10409:12280,LH00995:48:23YTGFLT4:7:1152:6655:18053,LH00995:48:23YTGFLT4:7:1152:6671:18053,LH00995:48:23YTGFLT4:7:1323:22948:11719,LH00995:48:23YTGFLT4:3:2488:50195:15251,LH00995:48:23YTGFLT4:7:2184:5361:3816

DNAAF4

CCPG1

-/-

chr15:55411109

chr15:55389433

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

701

low

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000524160.5

ENST00000310958.10

upstream

downstream

read_through(1)

AATGTATGATCTTCCAGAAACAGTTCTGAAACCTACAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCC

LH00995:48:23YTGFLT4:5:2496:43303:17492

ARL17B

KANSL1

-/-

chr17:46352820

chr17:46094701

CDS/splice-site

deletion/read-through

1875

1415

low

stop-codon

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

ENSG00000228696.10

ENSG00000120071.15

ENST00000570618.5

ENST00000574590.6

upstream

downstream

duplicates(4),mismatches(1)

CTCAgACTCCTGAGCTCAAAGCgATCTGCCCgCCTCAGCCTCCCAggGTGCTGGGGTTgCAG___GTTTCTGTGTGGAGACAGTAGAATATAAAAATAACACCTTCGCTGTCTGGGATGTTGGCAGCCACTTCAAAATCAGACCTCTGTGGCAGCATTTTTTCCAGAACACAAAAG|GAGACGCAGGTCAGAATGGAAATGGGCTGCAGACCGGGCAGCTATTGTCAGCCGCTGGAACTGGCTTCAGG

LH00995:48:23YTGFLT4:3:1460:27341:23336,LH00995:48:23YTGFLT4:8:1464:51376:2219,LH00995:48:23YTGFLT4:1:1387:43068:8118,LH00995:48:23YTGFLT4:3:1231:6525:21024,LH00995:48:23YTGFLT4:3:1456:19372:3060,LH00995:48:23YTGFLT4:3:2284:12908:2317,LH00995:48:23YTGFLT4:7:2460:6582:15797,LH00995:48:23YTGFLT4:8:1247:20691:12995

PSMD10P2

PSMD10P1

+/+

chr3:186761661

chr20:50914283

exon

translocation

low

ENSG00000226652.3

ENSG00000228663.1

ENST00000626135.2

ENST00000436861.1

downstream

upstream

duplicates(1)

CACTCCTCTACACTTAGCCTGTGATGAGGAGAGAGTGGAAGAAG|CAAAACTGCTGGTGTCCCAAGGAGCA

LH00995:48:23YTGFLT4:6:2340:13847:12322,LH00995:48:23YTGFLT4:7:2402:36515:13443,LH00995:48:23YTGFLT4:7:2411:50907:19903,LH00995:48:23YTGFLT4:8:2329:35641:21542

CST9

CST9L

-/-

chr20:23603621

chr20:23565037

CDS

CDS/splice-site

deletion/read-through

115

low

in-frame

Cathelicidin(100%)|Cystatin_domain(15%)

ENSG00000173335.5

ENSG00000101435.5

ENST00000376971.4

ENST00000376979.4

upstream

downstream

duplicates(6)

TGGTGTTCTCCATGAATCTGCAACTGCGCCAAACCGTATGTAGGAAATTTGA?GATGACATTGACAACTGCCCTTTTCAAGAAAGCCTGGAGCTGAACAAC|ACTTTCACCTGCTTCTTCACCATCAGCACCAGGCCCTGGATGACTCAGTTCAGCCTCCTGAACAAGACCTGCTTGGAGGGATTCCACTGAGTGAAACCCACTCACAGGCTTGTCCATGTGCTGC

VFSMNLQLRQTVCRKF?DDIDNCPFQESLELNN|TFTCFFTISTRPWMTQFSLLNKTCLEGFH*

LH00995:48:23YTGFLT4:2:1313:4115:3901,LH00995:48:23YTGFLT4:4:2261:52032:29277,LH00995:48:23YTGFLT4:4:2261:52040:29291,LH00995:48:23YTGFLT4:5:1268:40026:19468,LH00995:48:23YTGFLT4:6:1397:31378:4489,LH00995:48:23YTGFLT4:6:2432:32163:3746,LH00995:48:23YTGFLT4:8:2277:45519:4517,LH00995:48:23YTGFLT4:2:2310:38238:17240,LH00995:48:23YTGFLT4:6:1164:22244:24653

UPK3BP1

DTX2

+/+

chr7:77005661

chr7:76504363

exon

CDS

duplication

3741

1831

low

|Deltex_C-terminal_domain(70%)

ENSG00000242435.1

ENSG00000091073.19

ENST00000428678.1

ENST00000324432.9

downstream

upstream

duplicates(3),mismatches(1)

GGAAAGCCGTTCACTGCCAGAGGGTTTCCCCGCCAGTGCTACCTTCCAGACAACGCCCAGGGCCGCAAG___CCTCCAGGGGCTTCCAGAACCCGGAGACACTGGCTGACATTCCGGCCTCCCCACAGCTGCTGACCGATGGCCACTACATGACGCTGCCCGTGTCTCCGGACCAGCTGCCCTG|AGCACCCCAATCCCGGAAAGCCGTTCACTGCCAGAGGGTTTCCCCGCCAGTGtTACCTTCCAG

LH00995:48:23YTGFLT4:1:1434:27495:14017,LH00995:48:23YTGFLT4:2:1226:47178:19833,LH00995:48:23YTGFLT4:3:2169:39856:16960,LH00995:48:23YTGFLT4:3:2332:14009:16722,LH00995:48:23YTGFLT4:5:1202:27187:25479,LH00995:48:23YTGFLT4:6:1131:32454:13975,LH00995:48:23YTGFLT4:7:2255:14915:10108

NEAT1

BBC3

+/+

-/-

chr11:65439723

chr19:47228268

exon

CDS

translocation

2875

low

|Bcl-2-binding_component_3__p53_upregulated_modulator_of_apoptosis(70%)

ENSG00000245532.9

ENSG00000105327.18

ENST00000501122.2

ENST00000449228.5

downstream

duplicates(1)

TTTAAAAAAAAAAAAAAGTGACTTGATTTAAGGGAAAAAATGACTGGCTATATTCA|CCGCTGCCTACCTCTGCGCCCCCACCGCCCC

LH00995:48:23YTGFLT4:3:1447:5805:15208,LH00995:48:23YTGFLT4:4:2483:42647:27539,LH00995:48:23YTGFLT4:7:2171:47841:1785,LH00995:48:23YTGFLT4:8:1457:36394:7460

CD59

EXT2

-/-

+/+

chr11:33717370

chr11:44171611

CDS/splice-site

inversion

5484

1353

low

out-of-frame

u-PAR/Ly-6_domain(43%)|Glycosyl_transferase_family_64_domain(100%)

ENSG00000085063.17

ENSG00000151348.15

ENST00000642928.2

ENST00000533608.7

upstream

duplicates(5)

GGATCTTGGGCGCCGCCAG___GTTCTGTGGACAATCACAATGGGAATCCAAGGAGGGTCTGTCCTGTTCGGGCTGCTGCTCGTCCTGGCTGTCTTCTGCCATTCAG___GTCATAGCCTGCAGTGCTACAACTGTCCTAACCCAACTGCTGACTGCAAAACAGCCGTCAATTGTTCATCTGATTTTGATGCGTGTCTCATTACCAAAGCTG|GCCCGGTGGTTCTGGGAAGCGTACTTCCAGTCAATTAAAGCCATTGCtCTGGCCACCCT

MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKA|gpvvlgsvlpvn*

LH00995:48:23YTGFLT4:3:1488:39387:7432,LH00995:48:23YTGFLT4:3:2209:40487:14466,LH00995:48:23YTGFLT4:5:1183:50551:15587,LH00995:48:23YTGFLT4:5:1183:50559:15573,LH00995:48:23YTGFLT4:5:1183:50567:15587,LH00995:48:23YTGFLT4:5:1183:50584:15587,LH00995:48:23YTGFLT4:7:1166:28466:12896

MIER1

PAMR1

+/+

-/-

chr1:66963160

chr11:35494272

CDS/splice-site

translocation

905

539

low

in-frame

ELM2_domain(45%)|CUB_domain(100%),EGF-like_domain(100%),Sushi_repeat_(SCR_repeat)(100%),Trypsin(100%)

ENSG00000198160.15

ENSG00000149090.12

ENST00000355977.10

ENST00000615849.4

downstream

duplicates(3)

CCATCAGAAGACTGGAAAAAG___GAGATTATGGTGGGCTCCATGTTTCAAGCAGAAATTCCAGTTGGCATTTGTAGATACAAAGAAAATGAAAAAG|AGTACACAGTCATTAATGAAGCCTGCCCTGGAGCAGAGTGGAATATCATGTGTCGGGAGTGCTGTGAATATGATCAGATTGAGTGCGTCTGCCCCGGAAAGAGGGAAGTCGTGGGTTATACCATCCCTTGCTGCAGGAATGAGGAGAATGAGTGTGACTCCTGCCTGA

PSEDWKKEIMVGSMFQAEIPVGICRYKENEK|eYTVINEACPGAEWNIMCRECCEYDQIECVCPGKREVVGYTIPCCRNEENECDSCL

LH00995:48:23YTGFLT4:5:1211:8006:1336,LH00995:48:23YTGFLT4:5:1211:8014:1350,LH00995:48:23YTGFLT4:5:2379:5061:4167,LH00995:48:23YTGFLT4:8:2150:37704:10346,LH00995:48:23YTGFLT4:1:2383:33303:16512

MEF2C

MCTP1

-/-

chr5:88804598

chr5:94953361

CDS/splice-site

duplication

934

471

low

out-of-frame

SRF-type_transcription_factor_(DNA-binding_and_dimerisation_domain)(100%)|C2_domain(93%),Plant_phosphoribosyltransferase_C-terminal(100%)

ENSG00000081189.16

ENSG00000175471.19

ENST00000424173.6

ENST00000515393.5

upstream

downstream

duplicates(1)

GCTGAGCGTGCTGTGTGACTGTGAGATTGCGCTGATCATCTTCAACAGCACCAACAAGCTGTTCCAGTATGCCAGCACCGACATGGACAAAGTGCTTCTCAAGTACACGGAGTACAACGAGCCGCATGAGAGCCGGAtAAACTCAGACATCGTGGAG|GGACGAGTGATCCATATGTGAAGTTTAAAATCGGAGGAAAAGAAGTTTTTAGAAG

LSVLCDCEIALIIFNSTNKLFQYASTDMDKVLLKYTEYNEPHESRiNSDIVE|grvihm*

LH00995:48:23YTGFLT4:1:1496:13499:1210,LH00995:48:23YTGFLT4:4:2144:2019:20589,LH00995:48:23YTGFLT4:7:2474:47946:11916

CD200R1

KDM5A

-/-

chr3:112947856

chr12:329029

CDS/splice-site

translocation

162

649

low

out-of-frame

|C5HC2_zinc_finger(100%),PHD-finger(53%),PLU-1-like_protein(100%)

ENSG00000163606.11

ENSG00000073614.13

ENST00000308611.8

ENST00000399788.7

upstream

downstream

duplicates(2)

GCTCAACCAAACAACTCATTAATGCTGCAAACTAGCAAGGAGAATCATGCTTTAG|TTGCCCATTGGACGTCAATGTGTAAATCATTACCGACGCCTAAGGCGCCACTGTGTCTTTTCACACGAGGAACTAATTTTCAAG

AQPNNSLMLQTSKENHAL|vahwtsmckslptpkaplclftrgtnfq

LH00995:48:23YTGFLT4:3:2414:30140:12098,LH00995:48:23YTGFLT4:3:2414:31079:15208,LH00995:48:23YTGFLT4:6:2147:9883:18796,LH00995:48:23YTGFLT4:7:1134:9090:8567

CACNA2D2

QRICH1

-/-

chr3:50476118

chr3:49057890

CDS/splice-site

deletion

305

3123

low

in-frame

|Domain_of_unknown_function_(DUF3504)(100%)

ENSG00000007402.12

ENSG00000198218.11

ENST00000360963.7

ENST00000395443.7

upstream

downstream

duplicates(1)

GCGGATTTTTGGAGGCGTCCAGCAGCTCCGTGAG|GTCCAGGTGtAGGTACAGCAGTCTCCGtAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACC

RIFGGVQQLRE|VQV*

LH00995:48:23YTGFLT4:2:1404:41903:5960,LH00995:48:23YTGFLT4:3:1168:9430:20757,LH00995:48:23YTGFLT4:3:1168:9446:20757

NFAT5

METTL9

+/+

chr16:69626528

chr16:21617865

CDS/splice-site

duplication

394

2042

low

out-of-frame

|DREV_methyltransferase(75%)

ENSG00000102908.22

ENSG00000197006.14

ENST00000426654.6

ENST00000567404.5

downstream

upstream

duplicates(2)

GGCAGGCTCGCCTCCTCCAGCTGTTGTTGCTGCTG|GTTGCTAGGAAGAGGCTCAATGTTTGTGTTTTCACCAGATCAGTTTCAGAGACTGCTTAAAATTAATCCAGACTGGAAAACCCACAGACTTCTTGATTTAGGTGCTGGAGATGGAGAAGTCACA

AGSPPPAVVAA|gc*

LH00995:48:23YTGFLT4:1:1171:23781:5848,LH00995:48:23YTGFLT4:1:1458:39978:1252,LH00995:48:23YTGFLT4:2:2131:30982:14256,LH00995:48:23YTGFLT4:8:2102:49904:6311

PDE3A

CBFB

+/+

chr12:20654205

chr16:67082213

CDS/splice-site

translocation

103

2627

low

out-of-frame

3'5'-cyclic_nucleotide_phosphodiesterase(100%)|Core_binding_factor_beta_subunit(20%)

ENSG00000172572.7

ENSG00000067955.15

ENST00000359062.4

ENST00000290858.11

downstream

upstream

duplicates(1)

GGAAGACAGCGATGAGTCAGGAGATACTGATGACCCAGAAGAAGAGGAGGAAGAAGCACCAGCACCAAATGAAGAGGAAAtCTGTGAAAATAATGAATCTCCAA|CAGGAGGATGCATTAGCACAACAGGCCTTTGAAGAGGCTCGG

EDSDESGDTDDPEEEEEEAPAPNEEEiCENNESP|tggcisttgl*

LH00995:48:23YTGFLT4:4:2275:9980:4223,LH00995:48:23YTGFLT4:5:2339:39128:23462,LH00995:48:23YTGFLT4:7:1166:10886:5316

GLG1

OSBPL10

-/-

chr16:74606657

chr3:31748120

CDS/splice-site

translocation

2485

645

low

in-frame

Cysteine_rich_repeat(0%)|Oxysterol-binding_protein_(100%)

ENSG00000090863.12

ENSG00000144645.15

ENST00000205061.9

ENST00000396556.7

upstream

downstream

duplicates(4)

GCTGGAAGCTGGCGGAGGAAGAGTCCTGCAGGGAGGACGTGACCCGCGTGTGCCCTAAGCACACCTGGAGCAACAACCTGGCGGTGCTCGAGTGCCTGCAGGATGTGAGGGAG|ATGATGAACCAGGTGGAAGGGCAGCAGAAGAACCTTGTGCACGCCATTGAGTCCCTGCCAGGGTCCGGCCC

WKLAEEESCREDVTRVCPKHTWSNNLAVLECLQDVRE|MMNQVEGQQKNLVHAIESLPGSG

LH00995:48:23YTGFLT4:2:1438:14219:7081,LH00995:48:23YTGFLT4:3:2205:37114:8931,LH00995:48:23YTGFLT4:5:2118:16784:15447,LH00995:48:23YTGFLT4:7:1170:3694:27469,LH00995:48:23YTGFLT4:5:1302:11525:21276,LH00995:48:23YTGFLT4:5:1302:11533:21290

GIGYF2

HDAC4

+/+

-/-

chr2:232697392

chr2:239236664

5'UTR/splice-site

CDS/splice-site

inversion

108

1074

low

|Glutamine_rich_N_terminal_domain_of_histone_deacetylase_4(100%),Histone_deacetylase_domain(100%)

ENSG00000204120.16

ENSG00000068024.17

ENST00000373563.9

ENST00000543185.6

downstream

duplicates(3)

TGTGTTGTTGAGGCTGAGGACTGACTGGGGTTCTGAGACTCCCTGTCCCGGACCGCAG|ATGGACTTTCTGGCCGAGACCAGCCAGTGGAGCTGCTGAATCtTGCCCGCGTGAACCACATGCCCAGCACGG

LH00995:48:23YTGFLT4:3:2144:3654:27427,LH00995:48:23YTGFLT4:5:1494:34711:2107,LH00995:48:23YTGFLT4:6:1364:2561:4601,LH00995:48:23YTGFLT4:6:2139:26637:10991,LH00995:48:23YTGFLT4:7:2455:8993:4531

UPK3B

PMS2P2

+/+

-/-

chr7:76511882

chr7:75355688

CDS/splice-site

exon/splice-site

inversion

1793

344

low

out-of-frame

ENSG00000243566.7

ENSG00000278416.1

ENST00000334348.8

ENST00000425039.3

downstream

duplicates(1)

GCAACGCGCCCCTCCCTGGCCCTGGACCCTATCG|TACAGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCaGTGGTACTGAGTCTAAGCACTG-GaTGAAGAAGATAGTAGAAAACAGTCTGGATGCTGGTGCCaCTAATgTTG___ATCTAAAGCTTAAGGACTATGGAATGGATCTCATTGAAGTTTCAGGCAATGGATGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAA___TCTCTTTCAGCTCTGAAACATC

NAPLPGPGPYr|tepakaikpidrksvhqicsgpvvlslstg*

LH00995:48:23YTGFLT4:1:1133:26888:7165,LH00995:48:23YTGFLT4:1:1133:26904:7165,LH00995:48:23YTGFLT4:7:2314:8863:1560

SUZ12

SUPT5H

+/+

chr17:31937520

chr19:39464798

CDS/splice-site

translocation

4621

1193

low

out-of-frame

|Early_transcription_elongation_factor_of_RNA_pol_II__NGN_section(64%),KOW_motif(100%)

ENSG00000178691.11

ENSG00000196235.14

ENST00000322652.10

ENST00000599117.5

downstream

upstream

duplicates(2)

TCGGCCTCCTCCTCCTCCTCCGCGGCGGCAGCGGCGGGGGCTGCGGTGTTACCGGTGAAGAAGCCGAAAATGGAGCACGTCCAGGCTGACCACGAGCTTTTCCTCCAGGCCTTTGAGA|CCCCTGCAGATCAAGTCAGTAGTGGCACC

SASSSSSAAAAAGAAVLPVKKPKMEHVQADHELFLQAFE|tpadqvssg

LH00995:48:23YTGFLT4:6:1228:26192:20057,LH00995:48:23YTGFLT4:7:1279:12245:21626,LH00995:48:23YTGFLT4:7:1279:12261:21626,LH00995:48:23YTGFLT4:8:1328:26516:19468

RHOT1

CEMIP2

+/+

-/-

chr17:32201056

chr9:71746341

CDS/splice-site

translocation

725

471

low

in-frame

EF_hand_associated(92%),Ras_family(100%)|G8_domain(100%),Interleukin-like_EMT_inducer(100%)

ENSG00000126858.19

ENSG00000135048.14

ENST00000333942.10

ENST00000377044.9

downstream

GGGCTATCTAGGCTATTCAATATTGACTGAGCAAGAGTtTCAAGCTTCAGCTGTTACAG|AAAATTGCCCAGATCAAAATCCTCGTCTCAGGAATTGGGATCCAGGACAAGATTCTGCAAAGCAAGTTGTTATCAAGGAGGGAGATATGCTCCGTCTGACCTCAGACGCCACCGTGCATTCTATAGTCATTCAGGATGGAG___GACTGCTTGTATTTGGG

GYLGYSILTEQEfQASAVT|eNCPDQNPRLRNWDPGQDSAKQVVIKEGDMLRLTSDATVHSIVIQDGGLLVF

LH00995:48:23YTGFLT4:4:1134:27956:9940,LH00995:48:23YTGFLT4:5:2385:4333:8623

NR4A3

SLC19A2

+/+

-/-

chr9:99833454

chr1:169470186

CDS/splice-site

translocation

6152

1551

low

in-frame

Zinc_finger__C4_type_(two_domains)(100%)|Reduced_folate_carrier(43%)

ENSG00000119508.18

ENSG00000117479.15

ENST00000618101.4

ENST00000236137.10

downstream

duplicates(11)

ATTACAACAGGAACCTTCTCAGCCCTCTCCACCTTCTCCTCCAATCTGCATGATGAATGCCCTTGTCCGAGCTTTAACAGACTCAACAtCCAGAGATCTTGATTATTCCAGA|GAACCCAAGCCAGACCGTCTCCTTGTATTGAAAGTACTATGGAATGATTTCCTGATGTGCTACTCCTCTCGCCCTCTTCTCTGCTGGTCTGTGTGGTGGGCCCTCTCTACCT

LQQEPSQPSPPSPPICMMNALVRALTDSTsRDLDYSR|EPKPDRLLVLKVLWNDFLMCYSSRPLLCWSVWWALST

LH00995:48:23YTGFLT4:1:1443:18466:2667,LH00995:48:23YTGFLT4:1:2147:48480:19062,LH00995:48:23YTGFLT4:3:1361:46620:9533,LH00995:48:23YTGFLT4:3:2261:27608:29403,LH00995:48:23YTGFLT4:6:1373:48780:13079,LH00995:48:23YTGFLT4:7:1205:47340:17647,LH00995:48:23YTGFLT4:7:1205:47356:17647,LH00995:48:23YTGFLT4:1:1107:32778:21234,LH00995:48:23YTGFLT4:3:1239:46272:15545,LH00995:48:23YTGFLT4:5:2320:21039:20631,LH00995:48:23YTGFLT4:6:1239:22997:11383,LH00995:48:23YTGFLT4:6:1395:48472:7978,LH00995:48:23YTGFLT4:6:2221:32430:15531

COLEC12

GALNT17

-/-

+/+

chr18:480707

chr7:71665411

CDS/splice-site

translocation

1348

low

out-of-frame

|Ricin-type_beta-trefoil_lectin_domain(100%)

ENSG00000158270.12

ENSG00000185274.12

ENST00000400256.5

ENST00000333538.10

upstream

duplicates(2)

GTGCGGTGAGCAGCCGCTCGGGACGACTTCCTCGGCTGCGCGGCGCTCGCGCGGAGCTCCCCGGCCGGCGGTGCGTCCCCACGGTCACCATGAAAG___ACGACTTCGCAGAGGAGGAGGAGGTGCAATCCTTCGGTTACAAGCGGTTTG|GTATGGCTCTGTGGGGGCAGCATGGAGGTCCTTCCTTGCTCACGGGTGGCCC

MKDDFAEEEEVQSFGYKRF|gmalwgqhggpslltgg

LH00995:48:23YTGFLT4:2:2291:4584:21640,LH00995:48:23YTGFLT4:6:1488:12633:11061,LH00995:48:23YTGFLT4:8:1407:36402:17815,LH00995:48:23YTGFLT4:6:2183:12099:29417

ZNF638

PPP3R1

+/+

-/-

chr2:71380565

chr2:68188690

CDS/splice-site

inversion

673

2198

low

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)|EF-hand_domain_pair(100%)

ENSG00000075292.19

ENSG00000221823.11

ENST00000491843.2

ENST00000409752.5

downstream

TTCTAAATTGCTTTATACTAAATTTCTTTTGTTCAAAATATTTTTCCTACGTAGAACAAAGAGGTGAAGAAAAAGACTTTAGAGTtAAAGAAAGTATCTGCATCTACCTTAAA___AAGAGATGCAGATGCTTCAAAAGCTGTTGAAATTGTTACTTCAACTTCTGCTG|TTGATGCGGATGAAATTAAAAGGCTAGGAAAGAGATTTAAGAAGCTTGATTTGGAC

LH00995:48:23YTGFLT4:5:2467:20092:4251,LH00995:48:23YTGFLT4:7:2126:24162:26516

PRDX2

BCAS3

-/-

+/+

chr19:12799859

chr17:60679453

CDS/splice-site

5'UTR/splice-site

translocation

2815

1199

low

in-frame

AhpC/TSA_family(100%),C-terminal_domain_of_1-Cys_peroxiredoxin(28%)|Breast_carcinoma_amplified_sequence_3_(100%)

ENSG00000167815.12

ENSG00000141376.23

ENST00000301522.3

ENST00000407086.8

upstream

duplicates(1)

CGTGGATGAGGCTCTGCGGCTGGTCCAGGCCTTCCAGTACACAGACGAGCATGGGGAAG|GTTTTATGAATGAAGCTATGGCTACAGATTCCCCAAGAAGACCCAGTCGTTGTACTGGTGGAGTTGTGGTTCGCCC

VDEALRLVQAFQYTDEHGE|gfMNEAMATDSPRRPSRCTGGVVVR

LH00995:48:23YTGFLT4:1:2350:19914:24288,LH00995:48:23YTGFLT4:2:2414:10417:16077,LH00995:48:23YTGFLT4:3:1328:41094:3943

TTC28

LUM

-/-

chr22:28001374

chr12:91109000

CDS/splice-site

5'UTR/splice-site

translocation

737

4880

low

in-frame

CHAT_domain(23%),Tetratricopeptide_repeat(100%)|Leucine_Rich_repeat(100%),Leucine_rich_repeat(100%),Leucine_rich_repeat_N-terminal_domain(100%)

ENSG00000100154.14

ENSG00000139329.5

ENST00000397906.6

ENST00000266718.5

upstream

downstream

duplicates(1)

CTCTAtGAGCGCTTCGGCCTCCTTGCTGTCCCTTCCATCCGCTCCCTCAGCGTGCAGTCCAAG|GATTCAAACCATTTGCCAAAAATGAGTCTAAGTGCATTTACTCTCTTCCTGGCATTGATTGGTGGTACCAGTGGCCAGTACTATGATTATGATTTTCCCCTATCAATTTATGGGCAATCATCACCAAACTGTGCACCAGAATGTAACTGCCCTGAAAGCTACCCAAGTGCCATGTACTGTGATGAGCTGAAATTGAAAAGTGTACCAATGGTGCC

LYERFGLLAVPSIRSLSVQSK|dsnhlpkMSLSAFTLFLALIGGTSGQYYDYDFPLSIYGQSSPNCAPECNCPESYPSAMYCDELKLKSVPMV

LH00995:48:23YTGFLT4:1:2459:6623:13009,LH00995:48:23YTGFLT4:8:1386:25852:22018,LH00995:48:23YTGFLT4:8:2201:31863:27862

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