aih-tih-sc-4bcd26-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-4bcd26-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-4bcd26-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/7c/2c2a0db5682f5a35dfd0a58161053f/aih-tih-sc-4bcd26-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 758.3 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-4bcd26-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

PDXDC2P

PDPR

-/-

+/+

chr16:70031900

chr16:70156737

exon/splice-site

CDS

inversion

2381

2891

high

|Glycine_cleavage_T-protein_C-terminal_barrel_domain(23%)

ENSG00000255185.6

ENSG00000090857.14

ENST00000534700.6

ENST00000288050.9

upstream

duplicates(68)

ATATCTTAGTGCTGCTGCTAGACCTGGCCTGGGCCAATACCTTTGTAATCAG___CTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTATGTTTGGATCCCAGCATCAGATG|ATTTCATCAACCGGGGAGAGTATGAGATTGACATCGCGGGATACCGCTTCCAGGCCAAGGCCAAGCTCTACCCTGTCGCCTCCCTCTTCACCCAGAAGCGCCGAAAGGATGACATGGAGCTGAGTGACT

LH00995:48:23YTGFLT4:1:2108:45738:27147,LH00995:48:23YTGFLT4:1:2108:45746:27133,LH00995:48:23YTGFLT4:2:1138:39541:8875,LH00995:48:23YTGFLT4:2:1167:50131:9253,LH00995:48:23YTGFLT4:2:1418:6493:23602,LH00995:48:23YTGFLT4:2:2177:44605:15993,LH00995:48:23YTGFLT4:2:2189:33708:2163,LH00995:48:23YTGFLT4:2:2251:13086:19272,LH00995:48:23YTGFLT4:2:2273:25213:12000,LH00995:48:23YTGFLT4:2:2403:26492:15363,LH00995:48:23YTGFLT4:3:1252:46239:27876,LH00995:48:23YTGFLT4:3:1478:32478:23294,LH00995:48:23YTGFLT4:3:2354:43707:10823,LH00995:48:23YTGFLT4:4:1395:18102:8146,LH00995:48:23YTGFLT4:4:2130:34404:17016,LH00995:48:23YTGFLT4:4:2385:44492:8427,LH00995:48:23YTGFLT4:5:1232:47267:1322,LH00995:48:23YTGFLT4:5:2254:43133:7390,LH00995:48:23YTGFLT4:5:2312:24752:18684,LH00995:48:23YTGFLT4:5:2314:27001:22859,LH00995:48:23YTGFLT4:5:2352:37623:3929,LH00995:48:23YTGFLT4:5:2430:3103:17114,LH00995:48:23YTGFLT4:6:1108:37033:27988,LH00995:48:23YTGFLT4:6:1220:2222:16820,LH00995:48:23YTGFLT4:6:1290:44548:14774,LH00995:48:23YTGFLT4:6:1451:38190:29291,LH00995:48:23YTGFLT4:6:2111:15724:20197,LH00995:48:23YTGFLT4:6:2117:49904:26516,LH00995:48:23YTGFLT4:6:2151:40568:10514,LH00995:48:23YTGFLT4:7:1167:12593:7292,LH00995:48:23YTGFLT4:7:1196:27195:5876,LH00995:48:23YTGFLT4:7:1232:41935:10304,LH00995:48:23YTGFLT4:7:1344:8006:5792,LH00995:48:23YTGFLT4:7:1447:5757:23476,LH00995:48:23YTGFLT4:7:1447:5773:23476,LH00995:48:23YTGFLT4:7:2190:30593:9996,LH00995:48:23YTGFLT4:7:2256:16225:21010,LH00995:48:23YTGFLT4:7:2376:19825:29487,LH00995:48:23YTGFLT4:8:1216:44799:29333,LH00995:48:23YTGFLT4:8:1231:28085:21598,LH00995:48:23YTGFLT4:8:1309:4495:17591,LH00995:48:23YTGFLT4:8:1358:48974:10612,LH00995:48:23YTGFLT4:8:1491:41296:28702,LH00995:48:23YTGFLT4:8:2117:16581:23392,LH00995:48:23YTGFLT4:8:2290:1720:10570,LH00995:48:23YTGFLT4:8:2335:6550:14648,LH00995:48:23YTGFLT4:1:1213:30156:8427,LH00995:48:23YTGFLT4:1:1213:30164:8441,LH00995:48:23YTGFLT4:1:1289:23862:19244,LH00995:48:23YTGFLT4:1:1411:12164:8286,LH00995:48:23YTGFLT4:1:1439:46061:21570,LH00995:48:23YTGFLT4:1:1455:16128:22411,LH00995:48:23YTGFLT4:1:2109:21613:12266,LH00995:48:23YTGFLT4:1:2135:29283:11677,LH00995:48:23YTGFLT4:1:2220:5425:21528,LH00995:48:23YTGFLT4:1:2289:26694:13415,LH00995:48:23YTGFLT4:1:2398:45608:13919,LH00995:48:23YTGFLT4:1:2465:11954:23840,LH00995:48:23YTGFLT4:2:1115:20934:18936,LH00995:48:23YTGFLT4:2:1181:29873:23966,LH00995:48:23YTGFLT4:2:1208:19518:28282,LH00995:48:23YTGFLT4:2:1212:15716:13737,LH00995:48:23YTGFLT4:2:1217:23320:29487,LH00995:48:23YTGFLT4:2:1225:8030:1967,LH00995:48:23YTGFLT4:2:1364:39848:21598,LH00995:48:23YTGFLT4:2:1385:51037:22565,LH00995:48:23YTGFLT4:2:2136:15538:10711,LH00995:48:23YTGFLT4:2:2147:20748:29011,LH00995:48:23YTGFLT4:2:2222:46417:15180,LH00995:48:23YTGFLT4:2:2234:7286:25087,LH00995:48:23YTGFLT4:2:2263:19542:9604,LH00995:48:23YTGFLT4:2:2270:7205:11691,LH00995:48:23YTGFLT4:2:2294:2618:18908,LH00995:48:23YTGFLT4:2:2295:37526:20015,LH00995:48:23YTGFLT4:2:2478:35755:7530,LH00995:48:23YTGFLT4:2:2478:35763:7516,LH00995:48:23YTGFLT4:3:1112:16662:25914,LH00995:48:23YTGFLT4:3:1174:22374:6885,LH00995:48:23YTGFLT4:3:1174:22390:6885,LH00995:48:23YTGFLT4:3:1187:13523:7362,LH00995:48:23YTGFLT4:3:1187:13531:7376,LH00995:48:23YTGFLT4:3:1344:41240:12966,LH00995:48:23YTGFLT4:3:1363:26775:5652,LH00995:48:23YTGFLT4:3:1479:40439:9057,LH00995:48:23YTGFLT4:3:2103:11161:5288,LH00995:48:23YTGFLT4:3:2109:42882:28058,LH00995:48:23YTGFLT4:3:2113:17245:8903,LH00995:48:23YTGFLT4:3:2113:17253:8889,LH00995:48:23YTGFLT4:3:2124:14179:22341,LH00995:48:23YTGFLT4:3:2127:9373:28618,LH00995:48:23YTGFLT4:3:2238:27737:3536,LH00995:48:23YTGFLT4:3:2363:20651:15110,LH00995:48:23YTGFLT4:3:2403:36183:8609,LH00995:48:23YTGFLT4:3:2471:45341:25339,LH00995:48:23YTGFLT4:4:1136:2456:7530,LH00995:48:23YTGFLT4:4:1229:12949:6731,LH00995:48:23YTGFLT4:4:1264:18474:17787,LH00995:48:23YTGFLT4:4:1264:18491:17787,LH00995:48:23YTGFLT4:4:1285:27551:18936,LH00995:48:23YTGFLT4:4:1306:6339:24597,LH00995:48:23YTGFLT4:4:1392:37041:2135,LH00995:48:23YTGFLT4:4:1421:27956:3550,LH00995:48:23YTGFLT4:4:1467:21354:20029,LH00995:48:23YTGFLT4:4:2224:31273:18487,LH00995:48:23YTGFLT4:4:2224:31281:18473,LH00995:48:23YTGFLT4:4:2276:47299:13625,LH00995:48:23YTGFLT4:4:2283:7221:1266,LH00995:48:23YTGFLT4:4:2357:7019:16217,LH00995:48:23YTGFLT4:4:2369:45341:4125,LH00995:48:23YTGFLT4:4:2494:40237:3158,LH00995:48:23YTGFLT4:5:1102:42413:28842,LH00995:48:23YTGFLT4:5:1110:51773:9828,LH00995:48:23YTGFLT4:5:1124:35374:9590,LH00995:48:23YTGFLT4:5:1273:49427:12995,LH00995:48:23YTGFLT4:5:1317:38530:20771,LH00995:48:23YTGFLT4:5:1374:6493:12252,LH00995:48:23YTGFLT4:5:1374:6509:12252,LH00995:48:23YTGFLT4:5:1429:41482:23728,LH00995:48:23YTGFLT4:5:2110:48084:9828,LH00995:48:23YTGFLT4:5:2213:49613:13513,LH00995:48:23YTGFLT4:5:2231:43731:29165,LH00995:48:23YTGFLT4:5:2233:40018:5498,LH00995:48:23YTGFLT4:5:2262:24299:22579,LH00995:48:23YTGFLT4:5:2262:27058:17997,LH00995:48:23YTGFLT4:5:2320:2586:2541,LH00995:48:23YTGFLT4:5:2327:23717:26642,LH00995:48:23YTGFLT4:5:2361:2173:21556,LH00995:48:23YTGFLT4:5:2374:4479:7950,LH00995:48:23YTGFLT4:5:2452:1388:26138,LH00995:48:23YTGFLT4:6:1144:48027:10458,LH00995:48:23YTGFLT4:6:1192:28894:9295,LH00995:48:23YTGFLT4:6:1192:28902:9309,LH00995:48:23YTGFLT4:6:1254:28498:8384,LH00995:48:23YTGFLT4:6:1427:25885:4307,LH00995:48:23YTGFLT4:6:1430:48472:3859,LH00995:48:23YTGFLT4:6:1455:31823:9379,LH00995:48:23YTGFLT4:6:2179:49152:16582,LH00995:48:23YTGFLT4:6:2224:45875:17829,LH00995:48:23YTGFLT4:6:2309:1477:15166,LH00995:48:23YTGFLT4:7:1131:11477:2163,LH00995:48:23YTGFLT4:7:1161:48852:27441,LH00995:48:23YTGFLT4:7:1463:17115:10584,LH00995:48:23YTGFLT4:7:1463:17131:10584,LH00995:48:23YTGFLT4:7:2109:17884:8945,LH00995:48:23YTGFLT4:7:2197:10198:24555,LH00995:48:23YTGFLT4:7:2279:41215:17801,LH00995:48:23YTGFLT4:7:2345:48925:16862,LH00995:48:23YTGFLT4:7:2407:20109:11761,LH00995:48:23YTGFLT4:7:2421:15837:28828,LH00995:48:23YTGFLT4:8:1142:50228:7488,LH00995:48:23YTGFLT4:8:1142:50244:7488,LH00995:48:23YTGFLT4:8:1176:32867:29123,LH00995:48:23YTGFLT4:8:1184:31394:7684,LH00995:48:23YTGFLT4:8:1252:23741:18698,LH00995:48:23YTGFLT4:8:1287:49953:4797,LH00995:48:23YTGFLT4:8:1350:3654:11621,LH00995:48:23YTGFLT4:8:1435:1364:17857,LH00995:48:23YTGFLT4:8:1435:1372:17843,LH00995:48:23YTGFLT4:8:1457:11032:6997,LH00995:48:23YTGFLT4:8:2151:7254:5050,LH00995:48:23YTGFLT4:8:2209:22867:5190,LH00995:48:23YTGFLT4:8:2360:43408:26054,LH00995:48:23YTGFLT4:8:2373:21573:8749,LH00995:48:23YTGFLT4:8:2497:50300:13779

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

853

351

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(58),mismatches(2)

CGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCC

RHIAQTGLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1128:14672:22747,LH00995:48:23YTGFLT4:1:1180:37656:26741,LH00995:48:23YTGFLT4:1:1361:1801:4909,LH00995:48:23YTGFLT4:1:1387:24679:20239,LH00995:48:23YTGFLT4:1:2243:15667:7292,LH00995:48:23YTGFLT4:1:2450:42380:13625,LH00995:48:23YTGFLT4:1:2474:17220:15447,LH00995:48:23YTGFLT4:2:1282:14826:20463,LH00995:48:23YTGFLT4:2:1331:37065:25718,LH00995:48:23YTGFLT4:2:1331:37081:25718,LH00995:48:23YTGFLT4:2:1331:37089:25732,LH00995:48:23YTGFLT4:2:1344:6485:7334,LH00995:48:23YTGFLT4:2:1363:4454:8525,LH00995:48:23YTGFLT4:2:1444:46183:25900,LH00995:48:23YTGFLT4:2:2137:23822:25760,LH00995:48:23YTGFLT4:2:2207:34913:25325,LH00995:48:23YTGFLT4:2:2402:32680:19917,LH00995:48:23YTGFLT4:2:2482:5814:20239,LH00995:48:23YTGFLT4:3:1146:15910:13009,LH00995:48:23YTGFLT4:3:1191:18944:25802,LH00995:48:23YTGFLT4:3:1355:21937:19496,LH00995:48:23YTGFLT4:3:1424:39978:22887,LH00995:48:23YTGFLT4:3:2374:20998:23111,LH00995:48:23YTGFLT4:3:2394:38335:4405,LH00995:48:23YTGFLT4:3:2497:4187:2878,LH00995:48:23YTGFLT4:4:1194:49192:12028,LH00995:48:23YTGFLT4:4:1197:31459:29319,LH00995:48:23YTGFLT4:4:1223:16363:2387,LH00995:48:23YTGFLT4:4:1319:11557:6619,LH00995:48:23YTGFLT4:4:1398:6331:15559,LH00995:48:23YTGFLT4:4:1413:39622:4811,LH00995:48:23YTGFLT4:4:1442:9114:15923,LH00995:48:23YTGFLT4:4:1448:22892:22131,LH00995:48:23YTGFLT4:4:1456:5094:23784,LH00995:48:23YTGFLT4:4:1456:5102:23798,LH00995:48:23YTGFLT4:4:2118:46377:23882,LH00995:48:23YTGFLT4:4:2205:35876:10514,LH00995:48:23YTGFLT4:4:2205:35884:10528,LH00995:48:23YTGFLT4:4:2303:40188:13331,LH00995:48:23YTGFLT4:4:2317:23684:6521,LH00995:48:23YTGFLT4:4:2408:5789:18207,LH00995:48:23YTGFLT4:4:2455:1534:23055,LH00995:48:23YTGFLT4:5:1231:51870:23252,LH00995:48:23YTGFLT4:5:1234:8961:17366,LH00995:48:23YTGFLT4:5:2257:47073:10711,LH00995:48:23YTGFLT4:5:2295:23215:24597,LH00995:48:23YTGFLT4:5:2305:15829:15867,LH00995:48:23YTGFLT4:5:2318:38570:7894,LH00995:48:23YTGFLT4:5:2329:21953:14031,LH00995:48:23YTGFLT4:5:2370:34800:6745,LH00995:48:23YTGFLT4:5:2408:29453:15082,LH00995:48:23YTGFLT4:5:2475:34606:3690,LH00995:48:23YTGFLT4:6:1133:47267:15138,LH00995:48:23YTGFLT4:6:1272:3047:15867,LH00995:48:23YTGFLT4:6:1361:21864:6339,LH00995:48:23YTGFLT4:6:1379:30585:26769,LH00995:48:23YTGFLT4:6:2112:4204:2906,LH00995:48:23YTGFLT4:6:2212:21977:5106,LH00995:48:23YTGFLT4:6:2264:30901:2794,LH00995:48:23YTGFLT4:6:2416:49257:8497,LH00995:48:23YTGFLT4:7:1205:34064:9870,LH00995:48:23YTGFLT4:7:1205:34072:9884,LH00995:48:23YTGFLT4:7:1424:3605:6493,LH00995:48:23YTGFLT4:7:2150:29582:16456,LH00995:48:23YTGFLT4:7:2165:30488:27525,LH00995:48:23YTGFLT4:8:1215:13984:14522,LH00995:48:23YTGFLT4:8:1215:41677:21738,LH00995:48:23YTGFLT4:8:1255:38246:15965,LH00995:48:23YTGFLT4:8:1271:10182:1575,LH00995:48:23YTGFLT4:8:1325:21063:18599,LH00995:48:23YTGFLT4:8:1480:32786:22845,LH00995:48:23YTGFLT4:8:2297:28911:1252,LH00995:48:23YTGFLT4:8:2375:1526:26488,LH00995:48:23YTGFLT4:1:2136:17285:3480,LH00995:48:23YTGFLT4:1:2287:21864:25620,LH00995:48:23YTGFLT4:1:2301:9867:16666,LH00995:48:23YTGFLT4:1:2333:9608:20057,LH00995:48:23YTGFLT4:1:2473:13426:26923,LH00995:48:23YTGFLT4:1:2473:13434:26909,LH00995:48:23YTGFLT4:2:2223:20990:8973,LH00995:48:23YTGFLT4:2:2244:48739:7936,LH00995:48:23YTGFLT4:2:2347:40301:17338,LH00995:48:23YTGFLT4:2:2453:13863:18627,LH00995:48:23YTGFLT4:3:1104:4430:12490,LH00995:48:23YTGFLT4:3:1117:4090:26250,LH00995:48:23YTGFLT4:3:1121:14365:12210,LH00995:48:23YTGFLT4:3:1229:30100:15923,LH00995:48:23YTGFLT4:3:1285:40989:13485,LH00995:48:23YTGFLT4:3:1344:10659:7081,LH00995:48:23YTGFLT4:3:1403:36879:13625,LH00995:48:23YTGFLT4:3:1487:33150:19776,LH00995:48:23YTGFLT4:3:2148:32446:9141,LH00995:48:23YTGFLT4:3:2157:16897:2415,LH00995:48:23YTGFLT4:3:2206:18758:28898,LH00995:48:23YTGFLT4:3:2229:50826:25087,LH00995:48:23YTGFLT4:3:2320:22932:17408,LH00995:48:23YTGFLT4:3:2339:3039:18992,LH00995:48:23YTGFLT4:3:2364:21670:17296,LH00995:48:23YTGFLT4:3:2455:32179:2541,LH00995:48:23YTGFLT4:4:1234:32066:25550,LH00995:48:23YTGFLT4:4:1289:50964:9435,LH00995:48:23YTGFLT4:4:2324:18774:14045,LH00995:48:23YTGFLT4:4:2346:9972:15307,LH00995:48:23YTGFLT4:4:2394:13806:5134,LH00995:48:23YTGFLT4:4:2454:11776:22803,LH00995:48:23YTGFLT4:5:1130:8200:18067,LH00995:48:23YTGFLT4:5:1193:39905:21360,LH00995:48:23YTGFLT4:5:1257:7739:16540,LH00995:48:23YTGFLT4:5:1357:45964:17394,LH00995:48:23YTGFLT4:5:2128:48367:6002,LH00995:48:23YTGFLT4:5:2159:6962:7768,LH00995:48:23YTGFLT4:5:2279:18515:28422,LH00995:48:23YTGFLT4:5:2476:2108:16904,LH00995:48:23YTGFLT4:6:1116:49629:19426,LH00995:48:23YTGFLT4:6:1471:23312:21346,LH00995:48:23YTGFLT4:6:2335:33125:25255,LH00995:48:23YTGFLT4:7:1217:51757:8903,LH00995:48:23YTGFLT4:7:1243:47598:5820,LH00995:48:23YTGFLT4:7:1481:25262:1967,LH00995:48:23YTGFLT4:7:2258:30164:21612,LH00995:48:23YTGFLT4:7:2333:12836:18978,LH00995:48:23YTGFLT4:7:2453:47437:8511,LH00995:48:23YTGFLT4:8:1281:42210:2457,LH00995:48:23YTGFLT4:8:1455:22341:1420,LH00995:48:23YTGFLT4:8:1480:19874:16820,LH00995:48:23YTGFLT4:8:2130:19583:19006,LH00995:48:23YTGFLT4:8:2238:19356:6227,LH00995:48:23YTGFLT4:8:2304:1542:18557,LH00995:48:23YTGFLT4:8:2319:10498:8539,LH00995:48:23YTGFLT4:8:2322:21524:12056,LH00995:48:23YTGFLT4:8:2415:30189:4251

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2801

351

medium

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(35),low_entropy(1)

GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCC

AVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:2398:29453:21640,LH00995:48:23YTGFLT4:2:2173:12035:24569,LH00995:48:23YTGFLT4:4:1206:49168:29165,LH00995:48:23YTGFLT4:5:1436:48925:3102,LH00995:48:23YTGFLT4:5:2415:31742:6325,LH00995:48:23YTGFLT4:6:2212:10708:29137,LH00995:48:23YTGFLT4:7:1290:4309:10654,LH00995:48:23YTGFLT4:8:2186:39080:13625,LH00995:48:23YTGFLT4:1:1170:9567:9870,LH00995:48:23YTGFLT4:1:2336:41531:14928,LH00995:48:23YTGFLT4:2:1449:9438:3172,LH00995:48:23YTGFLT4:2:2374:31475:8048,LH00995:48:23YTGFLT4:2:2402:15125:1308,LH00995:48:23YTGFLT4:2:2478:40819:28548,LH00995:48:23YTGFLT4:3:1289:30601:26180,LH00995:48:23YTGFLT4:3:1460:26500:7165,LH00995:48:23YTGFLT4:3:1488:27576:18726,LH00995:48:23YTGFLT4:3:2289:29453:14186,LH00995:48:23YTGFLT4:3:2371:21767:25031,LH00995:48:23YTGFLT4:3:2403:44120:9127,LH00995:48:23YTGFLT4:4:1272:43456:4755,LH00995:48:23YTGFLT4:4:1335:48844:29221,LH00995:48:23YTGFLT4:4:1363:28587:27035,LH00995:48:23YTGFLT4:4:2105:4649:22985,LH00995:48:23YTGFLT4:4:2149:33894:15293,LH00995:48:23YTGFLT4:4:2451:31426:10542,LH00995:48:23YTGFLT4:5:1197:3702:9351,LH00995:48:23YTGFLT4:5:1240:3459:3746,LH00995:48:23YTGFLT4:5:1431:16913:9702,LH00995:48:23YTGFLT4:5:2107:38602:18655,LH00995:48:23YTGFLT4:5:2109:35836:25353,LH00995:48:23YTGFLT4:5:2240:25917:12294,LH00995:48:23YTGFLT4:5:2317:10821:8651,LH00995:48:23YTGFLT4:5:2337:25553:11103,LH00995:48:23YTGFLT4:5:2380:7245:29193,LH00995:48:23YTGFLT4:6:1133:26467:4251,LH00995:48:23YTGFLT4:6:1426:47647:24905,LH00995:48:23YTGFLT4:6:1427:39209:6171,LH00995:48:23YTGFLT4:6:1442:21710:19440,LH00995:48:23YTGFLT4:6:1442:21718:19454,LH00995:48:23YTGFLT4:6:1472:7229:7754,LH00995:48:23YTGFLT4:6:2429:43084:22018,LH00995:48:23YTGFLT4:6:2485:9778:2387,LH00995:48:23YTGFLT4:7:1230:42890:7502,LH00995:48:23YTGFLT4:7:1283:46725:10837,LH00995:48:23YTGFLT4:7:1283:46733:10823,LH00995:48:23YTGFLT4:7:1433:11048:5400,LH00995:48:23YTGFLT4:7:1454:17059:14382,LH00995:48:23YTGFLT4:8:1456:43173:12364,LH00995:48:23YTGFLT4:8:1478:12577:5078,LH00995:48:23YTGFLT4:8:1492:45333:19804,LH00995:48:23YTGFLT4:8:1492:45341:19790,LH00995:48:23YTGFLT4:8:2139:6250:26432,LH00995:48:23YTGFLT4:8:2389:11412:15867

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

2801

729

medium

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(18)

TGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAG

GLIACSVLWVIFAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:1:1238:24857:10879,LH00995:48:23YTGFLT4:1:2125:38619:9744,LH00995:48:23YTGFLT4:2:2276:30973:7235,LH00995:48:23YTGFLT4:3:2413:12520:5960,LH00995:48:23YTGFLT4:4:1141:18774:17436,LH00995:48:23YTGFLT4:4:1388:27899:25732,LH00995:48:23YTGFLT4:7:1126:3556:1645,LH00995:48:23YTGFLT4:8:2137:46547:4979,LH00995:48:23YTGFLT4:1:1468:33538:7642,LH00995:48:23YTGFLT4:1:2260:34582:18585,LH00995:48:23YTGFLT4:1:2478:45147:14998,LH00995:48:23YTGFLT4:1:2486:49443:5932,LH00995:48:23YTGFLT4:2:1446:14526:13975,LH00995:48:23YTGFLT4:3:1207:22625:19258,LH00995:48:23YTGFLT4:4:1132:16161:5820,LH00995:48:23YTGFLT4:4:2157:16719:10402,LH00995:48:23YTGFLT4:4:2372:46255:19244,LH00995:48:23YTGFLT4:6:1296:14049:10907,LH00995:48:23YTGFLT4:6:2315:34897:25017,LH00995:48:23YTGFLT4:7:1140:11735:11747,LH00995:48:23YTGFLT4:7:1140:11752:11747,LH00995:48:23YTGFLT4:7:1414:4422:5834,LH00995:48:23YTGFLT4:7:2250:51304:2541,LH00995:48:23YTGFLT4:7:2289:41806:26923,LH00995:48:23YTGFLT4:7:2357:30529:16357,LH00995:48:23YTGFLT4:8:1308:10182:24555,LH00995:48:23YTGFLT4:8:2256:34274:22649,LH00995:48:23YTGFLT4:8:2360:32268:28142,LH00995:48:23YTGFLT4:8:2372:34226:8805

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

351

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(1)

TCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGC

LH00995:48:23YTGFLT4:3:1148:4729:23546,LH00995:48:23YTGFLT4:6:2219:11218:15447,LH00995:48:23YTGFLT4:8:1450:21767:14634,LH00995:48:23YTGFLT4:8:2217:41110:14003

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

914

351

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

GCCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAA

HWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlr

LH00995:48:23YTGFLT4:1:2237:8540:14620,LH00995:48:23YTGFLT4:2:2432:51522:10542

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

914

729

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

TCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCC

SQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldf

LH00995:48:23YTGFLT4:2:1108:16824:3746

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15438200

3'UTR/splice-site

CDS/splice-site

deletion/read-through

729

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

AGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAG

LH00995:48:23YTGFLT4:3:2264:48270:17801

RBM14

RBM4B

+/+

-/-

chr11:66617057

chr11:66677091

CDS/splice-site

5'UTR/splice-site

inversion

2145

1349

high

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

ENSG00000173914.12

ENST00000310137.5

ENST00000310046.9

downstream

duplicates(52),mismatches(5)

TCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTTCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGG

VGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpspggyragdsltlravwegagm*

LH00995:48:23YTGFLT4:1:1129:2828:22579,LH00995:48:23YTGFLT4:1:1429:6024:23490,LH00995:48:23YTGFLT4:1:2133:34808:26769,LH00995:48:23YTGFLT4:1:2268:11517:15937,LH00995:48:23YTGFLT4:1:2278:28733:20897,LH00995:48:23YTGFLT4:1:2280:22908:14676,LH00995:48:23YTGFLT4:1:2292:9414:2177,LH00995:48:23YTGFLT4:1:2312:34290:23994,LH00995:48:23YTGFLT4:1:2346:37664:13387,LH00995:48:23YTGFLT4:1:2356:49686:11902,LH00995:48:23YTGFLT4:2:1375:15934:4503,LH00995:48:23YTGFLT4:2:2235:39921:28310,LH00995:48:23YTGFLT4:2:2242:50907:28534,LH00995:48:23YTGFLT4:3:1432:41070:2780,LH00995:48:23YTGFLT4:3:2314:30634:13849,LH00995:48:23YTGFLT4:3:2367:34727:16007,LH00995:48:23YTGFLT4:3:2376:49014:20295,LH00995:48:23YTGFLT4:3:2438:40544:27595,LH00995:48:23YTGFLT4:4:1233:15667:3648,LH00995:48:23YTGFLT4:4:1349:7262:25269,LH00995:48:23YTGFLT4:4:1451:35949:1448,LH00995:48:23YTGFLT4:4:1471:42558:16371,LH00995:48:23YTGFLT4:4:2146:18927:3158,LH00995:48:23YTGFLT4:4:2225:17358:23223,LH00995:48:23YTGFLT4:5:1109:39314:9744,LH00995:48:23YTGFLT4:5:2202:31548:1420,LH00995:48:23YTGFLT4:5:2237:29711:14550,LH00995:48:23YTGFLT4:5:2257:16363:9309,LH00995:48:23YTGFLT4:5:2316:10490:20071,LH00995:48:23YTGFLT4:5:2407:27123:19819,LH00995:48:23YTGFLT4:6:1319:4018:7992,LH00995:48:23YTGFLT4:6:1365:27373:13135,LH00995:48:23YTGFLT4:6:1448:41054:3648,LH00995:48:23YTGFLT4:6:2124:29161:10711,LH00995:48:23YTGFLT4:6:2268:23984:24695,LH00995:48:23YTGFLT4:6:2285:47291:23223,LH00995:48:23YTGFLT4:6:2477:32349:4209,LH00995:48:23YTGFLT4:7:1334:49629:4685,LH00995:48:23YTGFLT4:7:2156:2230:11649,LH00995:48:23YTGFLT4:7:2164:49402:1687,LH00995:48:23YTGFLT4:7:2413:36863:12868,LH00995:48:23YTGFLT4:8:1108:46886:9127,LH00995:48:23YTGFLT4:8:1110:26055:3620,LH00995:48:23YTGFLT4:8:1111:6331:22369,LH00995:48:23YTGFLT4:8:1218:21039:6283,LH00995:48:23YTGFLT4:8:1309:51441:19482,LH00995:48:23YTGFLT4:8:2352:2456:18207,LH00995:48:23YTGFLT4:8:2429:47307:25017,LH00995:48:23YTGFLT4:1:1274:8370:23378,LH00995:48:23YTGFLT4:1:1461:28417:13177,LH00995:48:23YTGFLT4:1:2179:51376:14186,LH00995:48:23YTGFLT4:1:2466:12617:6437,LH00995:48:23YTGFLT4:2:1253:9438:18445,LH00995:48:23YTGFLT4:2:1254:14243:29235,LH00995:48:23YTGFLT4:2:1254:14251:29249,LH00995:48:23YTGFLT4:2:1451:4357:14578,LH00995:48:23YTGFLT4:2:2412:17398:16231,LH00995:48:23YTGFLT4:3:1239:33117:2906,LH00995:48:23YTGFLT4:3:1307:23345:27904,LH00995:48:23YTGFLT4:3:2144:38392:2962,LH00995:48:23YTGFLT4:3:2286:23603:29025,LH00995:48:23YTGFLT4:3:2335:31831:13289,LH00995:48:23YTGFLT4:3:2353:43084:15881,LH00995:48:23YTGFLT4:4:2113:20044:25550,LH00995:48:23YTGFLT4:4:2138:32551:6689,LH00995:48:23YTGFLT4:4:2205:33546:24723,LH00995:48:23YTGFLT4:4:2240:40196:16764,LH00995:48:23YTGFLT4:4:2428:51829:21584,LH00995:48:23YTGFLT4:4:2428:51846:21584,LH00995:48:23YTGFLT4:4:2437:47024:27021,LH00995:48:23YTGFLT4:4:2437:47040:27021,LH00995:48:23YTGFLT4:4:2441:5013:2709,LH00995:48:23YTGFLT4:5:1181:51198:8160,LH00995:48:23YTGFLT4:5:1265:18402:16792,LH00995:48:23YTGFLT4:5:2229:43642:17380,LH00995:48:23YTGFLT4:5:2387:2610:23125,LH00995:48:23YTGFLT4:5:2387:2618:23111,LH00995:48:23YTGFLT4:6:1309:11331:18866,LH00995:48:23YTGFLT4:6:1348:37939:21850,LH00995:48:23YTGFLT4:6:2162:38287:29235,LH00995:48:23YTGFLT4:6:2357:7245:15685,LH00995:48:23YTGFLT4:7:1150:11032:24120,LH00995:48:23YTGFLT4:7:1152:4293:18165,LH00995:48:23YTGFLT4:7:1225:35560:17731,LH00995:48:23YTGFLT4:7:1306:49540:12490,LH00995:48:23YTGFLT4:7:1498:15052:15559,LH00995:48:23YTGFLT4:7:2239:5045:10584,LH00995:48:23YTGFLT4:7:2250:23579:8693,LH00995:48:23YTGFLT4:7:2304:23320:19790,LH00995:48:23YTGFLT4:8:1422:23021:21570,LH00995:48:23YTGFLT4:8:1473:48618:15208,LH00995:48:23YTGFLT4:8:2340:29736:28352,LH00995:48:23YTGFLT4:8:2340:29744:28338

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

418

high

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(51),mismappers(1)

TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCC

LH00995:48:23YTGFLT4:1:1101:37664:8819,LH00995:48:23YTGFLT4:1:2174:25966:11285,LH00995:48:23YTGFLT4:1:2191:32729:4839,LH00995:48:23YTGFLT4:1:2243:25383:21066,LH00995:48:23YTGFLT4:1:2245:15546:12518,LH00995:48:23YTGFLT4:1:2289:44023:27147,LH00995:48:23YTGFLT4:1:2467:31621:15475,LH00995:48:23YTGFLT4:2:1109:14041:3158,LH00995:48:23YTGFLT4:2:1132:30545:13163,LH00995:48:23YTGFLT4:2:1402:20028:8370,LH00995:48:23YTGFLT4:2:1426:22439:14620,LH00995:48:23YTGFLT4:2:1449:39953:7292,LH00995:48:23YTGFLT4:2:2197:38627:25536,LH00995:48:23YTGFLT4:3:1123:39258:28366,LH00995:48:23YTGFLT4:3:1169:8321:2247,LH00995:48:23YTGFLT4:3:1169:8338:2247,LH00995:48:23YTGFLT4:3:1169:8346:2261,LH00995:48:23YTGFLT4:3:1346:49661:25732,LH00995:48:23YTGFLT4:3:1346:49678:25732,LH00995:48:23YTGFLT4:3:2209:25990:3004,LH00995:48:23YTGFLT4:3:2280:25941:5498,LH00995:48:23YTGFLT4:3:2414:4649:3816,LH00995:48:23YTGFLT4:3:2414:4665:3816,LH00995:48:23YTGFLT4:3:2420:25553:13737,LH00995:48:23YTGFLT4:4:1308:46215:14830,LH00995:48:23YTGFLT4:4:1308:46223:14844,LH00995:48:23YTGFLT4:4:1357:50422:27918,LH00995:48:23YTGFLT4:4:1357:50422:27946,LH00995:48:23YTGFLT4:4:2108:25238:7249,LH00995:48:23YTGFLT4:4:2357:49322:1967,LH00995:48:23YTGFLT4:4:2432:43206:23434,LH00995:48:23YTGFLT4:5:1348:38966:27581,LH00995:48:23YTGFLT4:5:2253:8694:7544,LH00995:48:23YTGFLT4:5:2292:8912:21794,LH00995:48:23YTGFLT4:5:2339:27430:29459,LH00995:48:23YTGFLT4:5:2339:27438:29445,LH00995:48:23YTGFLT4:5:2436:33449:5722,LH00995:48:23YTGFLT4:5:2482:23692:20659,LH00995:48:23YTGFLT4:6:1202:43165:18207,LH00995:48:23YTGFLT4:6:1290:38780:24204,LH00995:48:23YTGFLT4:6:1290:38788:24190,LH00995:48:23YTGFLT4:6:1290:38796:24204,LH00995:48:23YTGFLT4:6:2156:38602:19244,LH00995:48:23YTGFLT4:6:2172:20691:9435,LH00995:48:23YTGFLT4:6:2178:42939:1084,LH00995:48:23YTGFLT4:6:2203:17649:22887,LH00995:48:23YTGFLT4:6:2208:9794:15979,LH00995:48:23YTGFLT4:7:1333:44468:16764,LH00995:48:23YTGFLT4:7:2223:44047:16988,LH00995:48:23YTGFLT4:7:2232:23239:20687,LH00995:48:23YTGFLT4:7:2455:17366:12840,LH00995:48:23YTGFLT4:8:1126:29056:1084,LH00995:48:23YTGFLT4:8:1280:33222:26264,LH00995:48:23YTGFLT4:8:1292:38360:27091,LH00995:48:23YTGFLT4:8:2265:18385:6451,LH00995:48:23YTGFLT4:8:2273:31540:1182,LH00995:48:23YTGFLT4:8:2291:5255:18908,LH00995:48:23YTGFLT4:8:2311:1040:6619,LH00995:48:23YTGFLT4:8:2491:48440:24401,LH00995:48:23YTGFLT4:8:2491:48448:24415,LH00995:48:23YTGFLT4:8:2491:48456:24401,LH00995:48:23YTGFLT4:1:1362:3920:15222,LH00995:48:23YTGFLT4:1:2212:16654:2023,LH00995:48:23YTGFLT4:1:2232:37389:18655,LH00995:48:23YTGFLT4:1:2301:28611:3424,LH00995:48:23YTGFLT4:1:2329:3573:19720,LH00995:48:23YTGFLT4:2:1206:49710:5526,LH00995:48:23YTGFLT4:2:1493:8783:21346,LH00995:48:23YTGFLT4:2:1493:8791:21332,LH00995:48:23YTGFLT4:3:1398:43400:20715,LH00995:48:23YTGFLT4:4:1457:30415:9211,LH00995:48:23YTGFLT4:4:2108:29517:13681,LH00995:48:23YTGFLT4:5:1445:30593:18067,LH00995:48:23YTGFLT4:5:2272:33344:15377,LH00995:48:23YTGFLT4:5:2352:19963:4111,LH00995:48:23YTGFLT4:5:2403:16015:22719,LH00995:48:23YTGFLT4:5:2403:16023:22705,LH00995:48:23YTGFLT4:6:1326:48691:1126,LH00995:48:23YTGFLT4:7:1108:24663:22817,LH00995:48:23YTGFLT4:8:1183:36976:16484,LH00995:48:23YTGFLT4:8:2128:33910:22159,LH00995:48:23YTGFLT4:8:2382:27729:17394

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

418

high

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(18)

CGTCCAGAAACCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGC

LH00995:48:23YTGFLT4:1:1369:44573:5596,LH00995:48:23YTGFLT4:1:1369:44581:5610,LH00995:48:23YTGFLT4:2:1113:19542:27763,LH00995:48:23YTGFLT4:2:1123:30569:10598,LH00995:48:23YTGFLT4:3:1346:3249:8006,LH00995:48:23YTGFLT4:4:1150:27843:9491,LH00995:48:23YTGFLT4:4:1150:27851:9477,LH00995:48:23YTGFLT4:4:1201:29307:24779,LH00995:48:23YTGFLT4:4:1257:13353:1518,LH00995:48:23YTGFLT4:4:1370:35002:29291,LH00995:48:23YTGFLT4:4:2295:29477:4923,LH00995:48:23YTGFLT4:5:1382:16047:26951,LH00995:48:23YTGFLT4:5:1441:32187:28338,LH00995:48:23YTGFLT4:6:1412:37478:19819,LH00995:48:23YTGFLT4:6:2335:32009:4797,LH00995:48:23YTGFLT4:7:1254:30092:2149,LH00995:48:23YTGFLT4:7:1329:18216:1420,LH00995:48:23YTGFLT4:7:1366:17099:29333,LH00995:48:23YTGFLT4:7:1377:32616:9435,LH00995:48:23YTGFLT4:7:1377:36612:2205,LH00995:48:23YTGFLT4:7:1397:47145:8931,LH00995:48:23YTGFLT4:7:2162:34865:24176,LH00995:48:23YTGFLT4:7:2249:35253:10052,LH00995:48:23YTGFLT4:7:2433:33506:6549,LH00995:48:23YTGFLT4:8:1222:40334:14059,LH00995:48:23YTGFLT4:8:1222:40714:11551,LH00995:48:23YTGFLT4:8:1309:23498:29347,LH00995:48:23YTGFLT4:8:2265:11711:20225,LH00995:48:23YTGFLT4:8:2415:48068:21262,LH00995:48:23YTGFLT4:5:2375:21176:11986

AC092807.3

DDAH1

-/-

chr1:85488291

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

418

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000488557.6

ENST00000284031.13

upstream

downstream

duplicates(3)

TGGACTTTCAGCCTCCAGAACT|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTT

LH00995:48:23YTGFLT4:6:1211:2068:14003,LH00995:48:23YTGFLT4:6:1307:22002:2037,LH00995:48:23YTGFLT4:7:1209:4778:23013,LH00995:48:23YTGFLT4:8:2405:5126:3382

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

170

692

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(54),low_entropy(1),mismappers(2),mismatches(1)

GGCGGCAGAGGGTGTGTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAAC

RQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP

LH00995:48:23YTGFLT4:1:1159:7933:14298,LH00995:48:23YTGFLT4:1:1176:14122:20281,LH00995:48:23YTGFLT4:1:1237:20254:9604,LH00995:48:23YTGFLT4:1:1295:51959:24190,LH00995:48:23YTGFLT4:1:1383:37421:11117,LH00995:48:23YTGFLT4:1:1494:14397:2037,LH00995:48:23YTGFLT4:1:1494:14413:2037,LH00995:48:23YTGFLT4:1:2133:47987:27679,LH00995:48:23YTGFLT4:1:2218:7254:16371,LH00995:48:23YTGFLT4:2:1134:7237:12532,LH00995:48:23YTGFLT4:2:1150:3759:13009,LH00995:48:23YTGFLT4:2:1257:9066:10542,LH00995:48:23YTGFLT4:2:1472:41410:2051,LH00995:48:23YTGFLT4:2:2231:29970:23294,LH00995:48:23YTGFLT4:3:2138:34614:19146,LH00995:48:23YTGFLT4:3:2231:26985:14059,LH00995:48:23YTGFLT4:3:2333:14607:9660,LH00995:48:23YTGFLT4:4:1310:10457:17605,LH00995:48:23YTGFLT4:4:1421:29606:28744,LH00995:48:23YTGFLT4:5:1392:22325:14396,LH00995:48:23YTGFLT4:6:1209:5142:26699,LH00995:48:23YTGFLT4:6:1327:36685:18838,LH00995:48:23YTGFLT4:6:2138:24866:2373,LH00995:48:23YTGFLT4:6:2159:43917:10094,LH00995:48:23YTGFLT4:6:2280:29258:4713,LH00995:48:23YTGFLT4:6:2390:43974:11089,LH00995:48:23YTGFLT4:6:2449:44023:7249,LH00995:48:23YTGFLT4:7:1166:16355:6213,LH00995:48:23YTGFLT4:7:1393:34023:19356,LH00995:48:23YTGFLT4:7:1393:34031:19370,LH00995:48:23YTGFLT4:7:1398:31653:6591,LH00995:48:23YTGFLT4:7:1398:31669:6591,LH00995:48:23YTGFLT4:7:1398:31685:6591,LH00995:48:23YTGFLT4:7:2189:27179:24793,LH00995:48:23YTGFLT4:8:1139:49136:18375,LH00995:48:23YTGFLT4:8:1180:41110:11733,LH00995:48:23YTGFLT4:8:1222:9300:22383,LH00995:48:23YTGFLT4:8:1338:5207:24092,LH00995:48:23YTGFLT4:1:2119:4867:1673,LH00995:48:23YTGFLT4:1:2268:16759:19384,LH00995:48:23YTGFLT4:1:2293:30990:11747,LH00995:48:23YTGFLT4:1:2402:19421:28983,LH00995:48:23YTGFLT4:1:2407:32454:13555,LH00995:48:23YTGFLT4:1:2456:15117:14774,LH00995:48:23YTGFLT4:2:1352:8702:26502,LH00995:48:23YTGFLT4:2:1394:29266:13443,LH00995:48:23YTGFLT4:2:1411:5587:22705,LH00995:48:23YTGFLT4:2:1422:51902:23055,LH00995:48:23YTGFLT4:2:2114:19631:3088,LH00995:48:23YTGFLT4:2:2146:22228:9127,LH00995:48:23YTGFLT4:2:2157:28789:27413,LH00995:48:23YTGFLT4:2:2179:49678:16932,LH00995:48:23YTGFLT4:2:2372:43497:28870,LH00995:48:23YTGFLT4:3:1184:31791:22299,LH00995:48:23YTGFLT4:3:1189:31297:10094,LH00995:48:23YTGFLT4:3:1441:8766:22523,LH00995:48:23YTGFLT4:3:2470:35463:15769,LH00995:48:23YTGFLT4:3:2470:35471:15783,LH00995:48:23YTGFLT4:4:1162:32502:28380,LH00995:48:23YTGFLT4:4:1438:9187:26614,LH00995:48:23YTGFLT4:4:1459:10069:14662,LH00995:48:23YTGFLT4:4:2103:1882:27890,LH00995:48:23YTGFLT4:4:2461:49273:21052,LH00995:48:23YTGFLT4:5:1119:6234:29683,LH00995:48:23YTGFLT4:5:1216:4147:16652,LH00995:48:23YTGFLT4:5:2355:27640:23181,LH00995:48:23YTGFLT4:5:2391:8410:24709,LH00995:48:23YTGFLT4:6:1285:8467:27413,LH00995:48:23YTGFLT4:6:2207:3540:16610,LH00995:48:23YTGFLT4:6:2367:12617:2289,LH00995:48:23YTGFLT4:7:2388:19995:2177,LH00995:48:23YTGFLT4:8:1133:28498:15671,LH00995:48:23YTGFLT4:8:1170:33190:13093,LH00995:48:23YTGFLT4:8:1256:18515:7292,LH00995:48:23YTGFLT4:8:1315:29105:6353,LH00995:48:23YTGFLT4:8:1479:5838:16189,LH00995:48:23YTGFLT4:8:2232:2165:10528,LH00995:48:23YTGFLT4:8:2256:18329:1841,LH00995:48:23YTGFLT4:8:2330:11897:7348,LH00995:48:23YTGFLT4:8:2373:43715:1617,LH00995:48:23YTGFLT4:8:2465:3176:11747

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

170

692

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(54),low_entropy(1),mismappers(2),mismatches(1)

RQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

170

692

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(54),low_entropy(1),mismappers(2),mismatches(1)

RQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP

PCDHA6

PCDHAC1

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

127

692

high

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(38),mismatches(1)

GGTCGTACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCCGGGGAGGGCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGC

SYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

LH00995:48:23YTGFLT4:1:1341:46927:7320,LH00995:48:23YTGFLT4:2:1313:42494:18669,LH00995:48:23YTGFLT4:3:2403:11946:28814,LH00995:48:23YTGFLT4:3:2438:27713:19496,LH00995:48:23YTGFLT4:4:1247:19025:28548,LH00995:48:23YTGFLT4:4:1326:42809:11593,LH00995:48:23YTGFLT4:4:1326:42825:11593,LH00995:48:23YTGFLT4:5:1369:23183:6100,LH00995:48:23YTGFLT4:5:2176:2788:4377,LH00995:48:23YTGFLT4:5:2345:5684:21808,LH00995:48:23YTGFLT4:6:1328:10150:3088,LH00995:48:23YTGFLT4:6:1417:39549:13765,LH00995:48:23YTGFLT4:6:2138:49281:19833,LH00995:48:23YTGFLT4:6:2146:32656:7936,LH00995:48:23YTGFLT4:6:2234:45608:14172,LH00995:48:23YTGFLT4:7:1118:49524:20841,LH00995:48:23YTGFLT4:7:1161:50592:9632,LH00995:48:23YTGFLT4:7:1233:5555:10150,LH00995:48:23YTGFLT4:7:1374:40196:16484,LH00995:48:23YTGFLT4:7:2111:42154:6731,LH00995:48:23YTGFLT4:7:2181:44767:20757,LH00995:48:23YTGFLT4:7:2231:5191:23560,LH00995:48:23YTGFLT4:7:2344:42785:23294,LH00995:48:23YTGFLT4:7:2404:26225:10640,LH00995:48:23YTGFLT4:7:2457:5255:3634,LH00995:48:23YTGFLT4:8:1203:13378:5148,LH00995:48:23YTGFLT4:8:2374:1307:7137,LH00995:48:23YTGFLT4:1:1138:9058:8987,LH00995:48:23YTGFLT4:1:1385:51676:21962,LH00995:48:23YTGFLT4:2:1174:35876:1294,LH00995:48:23YTGFLT4:2:1418:40212:22032,LH00995:48:23YTGFLT4:2:1418:40220:22046,LH00995:48:23YTGFLT4:3:1186:10570:25339,LH00995:48:23YTGFLT4:3:2119:51498:1532,LH00995:48:23YTGFLT4:3:2144:15926:22957,LH00995:48:23YTGFLT4:4:1162:8273:16007,LH00995:48:23YTGFLT4:4:1350:6873:28744,LH00995:48:23YTGFLT4:4:1381:28652:9632,LH00995:48:23YTGFLT4:4:2234:10328:19454,LH00995:48:23YTGFLT4:4:2452:6744:11033,LH00995:48:23YTGFLT4:5:1244:4034:28450,LH00995:48:23YTGFLT4:5:1450:28716:20785,LH00995:48:23YTGFLT4:6:1318:3128:21780,LH00995:48:23YTGFLT4:6:2390:40237:23840,LH00995:48:23YTGFLT4:7:1203:15853:2738,LH00995:48:23YTGFLT4:8:1357:42688:8104,LH00995:48:23YTGFLT4:8:1383:4276:13933,LH00995:48:23YTGFLT4:8:1431:36992:27553,LH00995:48:23YTGFLT4:8:2151:16153:11860,LH00995:48:23YTGFLT4:8:2211:18790:4461,LH00995:48:23YTGFLT4:8:2211:18798:4475

PCDHA6

PCDHAC2

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

127

692

high

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(38),mismatches(1)

SYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

PCDHA6

PCDHA13

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

127

692

high

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(38),mismatches(1)

SYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSS

TUBA4B

IPO11

+/+

+/-

chr2:219270335

chr5:62514552

CDS/splice-site

intron

translocation/5'-5'

high

out-of-frame

Tubulin/FtsZ_family__GTPase_domain(33%)|

ENSG00000243910.8

ENSG00000086200.17

ENST00000490341.3

downstream

duplicates(6)

GCTGCCAATAACTATGCCTGGGGCCACTACACCATTGGGAAGGAGTTCATCGACCTGCTACTGGACCGGATTCGGAAGCTG|CTGGACTGTACTGCTGCCATCTCGGCTCTCTGCAGCCTCCCTGCCTGATTCTCCTGCCTCAGCCTGC

AANNYAWGHYTIGKEFIDLLLDRIRKL|ldctaaisalcslpa*

LH00995:48:23YTGFLT4:3:1364:1825:9211,LH00995:48:23YTGFLT4:3:1364:1841:9211,LH00995:48:23YTGFLT4:3:2283:14405:2752,LH00995:48:23YTGFLT4:4:1295:7488:4979,LH00995:48:23YTGFLT4:4:2220:42623:14718,LH00995:48:23YTGFLT4:8:2463:46539:20659,LH00995:48:23YTGFLT4:1:2432:47121:3985,LH00995:48:23YTGFLT4:4:1284:15797:2107,LH00995:48:23YTGFLT4:4:1342:39751:15293

PMS2P6

CCDC146

+/+

chr7:73100706

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

330

307

high

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

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

GTTATTTTCTACGtTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGTTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGAGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCC

LH00995:48:23YTGFLT4:2:2362:43367:27974,LH00995:48:23YTGFLT4:5:2195:47202:24499,LH00995:48:23YTGFLT4:5:2195:47202:24499,LH00995:48:23YTGFLT4:5:2195:47202:24499,LH00995:48:23YTGFLT4:5:2195:47202:24499,LH00995:48:23YTGFLT4:7:2404:19647:19034,LH00995:48:23YTGFLT4:1:1244:7666:4475

PMS2P6

CCDC146

+/+

chr7:73097567

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

526

379

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

mismatches(3),multimappers(2)

CTCGACTGGTGTTTGATCACGATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTA

LH00995:48:23YTGFLT4:2:2379:7998:5946,LH00995:48:23YTGFLT4:3:2327:32794:6325,LH00995:48:23YTGFLT4:4:1381:10077:26979,LH00995:48:23YTGFLT4:4:2174:52169:2023,LH00995:48:23YTGFLT4:8:1264:40787:14340

PMS2P6

CCDC146

+/+

chr7:73100706

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

330

379

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

duplicates(2),multimappers(2)

CTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAG

LH00995:48:23YTGFLT4:2:1201:46264:20491,LH00995:48:23YTGFLT4:3:2167:21403:27792,LH00995:48:23YTGFLT4:5:1297:11048:16722,LH00995:48:23YTGFLT4:6:2295:21735:12112

PMS2P6

CCDC146

+/+

chr7:73100706

chr7:77254506

exon/splice-site

CDS/splice-site

deletion

330

low

ENSG00000174384.9

ENSG00000135205.15

ENST00000333674.5

ENST00000285871.5

downstream

upstream

multimappers(1)

GTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGcTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|CTTAAAGGAAGAAAAAATCATCATAGTAAAAGAATTTGAG

LH00995:48:23YTGFLT4:3:1324:32494:22901

PRUNE2

-/-

chr9:76709219

chr9:76709230

CDS

duplication/ITD

210

3798

3651

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(721),low_entropy(1)

ACCTCAGACTCTTACACATCACCAACATTTGCTGGAGACGAAAAGGAAACTGAACACAAGCCATTTGCTAAAGAGGAAGGTTTTGAGTCAAAAGATGGTAACTCCAtGGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGATGAAAATGAACTCAAGACA

TSDSYTSPTFAGDEKETEHKPFAKEEGFESKDGNSmAEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNLDENELK

LH00995:48:23YTGFLT4:1:1380:19041:14396,LH00995:48:23YTGFLT4:1:2153:4673:7249,LH00995:48:23YTGFLT4:1:2278:13313:8567,LH00995:48:23YTGFLT4:2:1121:24801:10725,LH00995:48:23YTGFLT4:2:1297:31127:8875,LH00995:48:23YTGFLT4:2:2140:17819:14830,LH00995:48:23YTGFLT4:2:2338:34565:7263,LH00995:48:23YTGFLT4:2:2395:15667:21248,LH00995:48:23YTGFLT4:2:2395:15675:21234,LH00995:48:23YTGFLT4:3:1205:18021:23336,LH00995:48:23YTGFLT4:3:1205:18029:23350,LH00995:48:23YTGFLT4:3:1457:18717:2906,LH00995:48:23YTGFLT4:3:1457:18717:2906,LH00995:48:23YTGFLT4:3:2244:6509:21136,LH00995:48:23YTGFLT4:3:2455:9260:1322,LH00995:48:23YTGFLT4:3:2455:9260:1322,LH00995:48:23YTGFLT4:4:2120:38683:20281,LH00995:48:23YTGFLT4:4:2120:38683:20281,LH00995:48:23YTGFLT4:4:2262:35407:7544,LH00995:48:23YTGFLT4:5:1195:24930:6745,LH00995:48:23YTGFLT4:5:1195:24938:6759,LH00995:48:23YTGFLT4:5:1495:1243:20085,LH00995:48:23YTGFLT4:5:1495:1243:20085,LH00995:48:23YTGFLT4:5:2288:27034:12574,LH00995:48:23YTGFLT4:5:2365:20715:11916,LH00995:48:23YTGFLT4:5:2386:36321:23672,LH00995:48:23YTGFLT4:5:2435:32939:12350,LH00995:48:23YTGFLT4:6:1161:37259:6100,LH00995:48:23YTGFLT4:6:1266:14891:15279,LH00995:48:23YTGFLT4:6:1304:12253:24695,LH00995:48:23YTGFLT4:6:2221:5814:23714,LH00995:48:23YTGFLT4:6:2240:13717:29697,LH00995:48:23YTGFLT4:6:2295:25658:15713,LH00995:48:23YTGFLT4:7:1332:28765:4559,LH00995:48:23YTGFLT4:7:2145:26297:27469,LH00995:48:23YTGFLT4:7:2285:27050:17002,LH00995:48:23YTGFLT4:8:1112:5498:22383,LH00995:48:23YTGFLT4:8:1133:36386:23392,LH00995:48:23YTGFLT4:8:1205:23846:26867,LH00995:48:23YTGFLT4:8:1403:11104:6030,LH00995:48:23YTGFLT4:8:1403:11113:6044,LH00995:48:23YTGFLT4:8:2213:41086:8216,LH00995:48:23YTGFLT4:8:2335:44225:20351,LH00995:48:23YTGFLT4:8:2381:4454:10038,LH00995:48:23YTGFLT4:1:1115:20303:19216,LH00995:48:23YTGFLT4:1:1115:20319:19216,LH00995:48:23YTGFLT4:1:1204:47534:20421,LH00995:48:23YTGFLT4:1:1380:19041:14396,LH00995:48:23YTGFLT4:1:1380:19041:14396,LH00995:48:23YTGFLT4:1:1380:19041:14396,LH00995:48:23YTGFLT4:1:1427:17253:15166,LH00995:48:23YTGFLT4:1:1433:22689:2303,LH00995:48:23YTGFLT4:1:1479:40940:22985,LH00995:48:23YTGFLT4:1:2163:52024:10150,LH00995:48:23YTGFLT4:1:2265:1615:14059,LH00995:48:23YTGFLT4:1:2292:19809:23686,LH00995:48:23YTGFLT4:1:2427:14518:26432,LH00995:48:23YTGFLT4:1:2443:30836:11425,LH00995:48:23YTGFLT4:2:1289:18102:3102,LH00995:48:23YTGFLT4:2:1340:35488:29683,LH00995:48:23YTGFLT4:2:1377:22074:18277,LH00995:48:23YTGFLT4:2:1434:7197:1589,LH00995:48:23YTGFLT4:2:1451:22964:11663,LH00995:48:23YTGFLT4:2:2331:52121:1098,LH00995:48:23YTGFLT4:3:1127:43618:13499,LH00995:48:23YTGFLT4:3:1313:27446:18782,LH00995:48:23YTGFLT4:3:1397:17819:21668,LH00995:48:23YTGFLT4:3:1397:17827:21654,LH00995:48:23YTGFLT4:3:1397:17835:21668,LH00995:48:23YTGFLT4:3:1451:17576:5330,LH00995:48:23YTGFLT4:3:2226:39525:25746,LH00995:48:23YTGFLT4:3:2385:18353:26685,LH00995:48:23YTGFLT4:3:2391:4446:11649,LH00995:48:23YTGFLT4:3:2498:3103:13219,LH00995:48:23YTGFLT4:4:1109:41353:12210,LH00995:48:23YTGFLT4:4:1124:11962:28226,LH00995:48:23YTGFLT4:4:1179:44581:7151,LH00995:48:23YTGFLT4:4:1334:36378:25844,LH00995:48:23YTGFLT4:4:1364:38999:24443,LH00995:48:23YTGFLT4:4:1364:39007:24429,LH00995:48:23YTGFLT4:4:1486:17843:22074,LH00995:48:23YTGFLT4:4:2157:32575:13121,LH00995:48:23YTGFLT4:4:2157:32591:13121,LH00995:48:23YTGFLT4:4:2372:12892:24821,LH00995:48:23YTGFLT4:4:2438:12124:24078,LH00995:48:23YTGFLT4:5:1191:28441:4895,LH00995:48:23YTGFLT4:5:2386:44597:11411,LH00995:48:23YTGFLT4:5:2497:22325:11369,LH00995:48:23YTGFLT4:6:1127:14753:16526,LH00995:48:23YTGFLT4:6:1277:24016:26068,LH00995:48:23YTGFLT4:6:1312:44621:20113,LH00995:48:23YTGFLT4:6:1312:44629:20099,LH00995:48:23YTGFLT4:6:2266:19324:1659,LH00995:48:23YTGFLT4:7:1161:9155:7334,LH00995:48:23YTGFLT4:7:1169:40398:8483,LH00995:48:23YTGFLT4:7:1232:40665:6339,LH00995:48:23YTGFLT4:7:1388:9964:26671,LH00995:48:23YTGFLT4:7:2163:20456:17801,LH00995:48:23YTGFLT4:7:2305:26961:19594,LH00995:48:23YTGFLT4:7:2383:7901:13205,LH00995:48:23YTGFLT4:7:2417:29776:20463,LH00995:48:23YTGFLT4:8:1129:3500:26488,LH00995:48:23YTGFLT4:8:1181:45908:25003,LH00995:48:23YTGFLT4:8:1385:1720:15699,LH00995:48:23YTGFLT4:8:2102:15748:5414,LH00995:48:23YTGFLT4:1:1112:27697:22355,LH00995:48:23YTGFLT4:1:1114:4034:17801,LH00995:48:23YTGFLT4:1:1172:45681:20071,LH00995:48:23YTGFLT4:1:1197:49006:16414,LH00995:48:23YTGFLT4:1:1206:13693:17829,LH00995:48:23YTGFLT4:1:1215:36976:26797,LH00995:48:23YTGFLT4:1:1219:25278:16540,LH00995:48:23YTGFLT4:1:1253:35876:19230,LH00995:48:23YTGFLT4:1:1253:35876:19230,LH00995:48:23YTGFLT4:1:1253:35876:19230,LH00995:48:23YTGFLT4:1:1253:35876:19230,LH00995:48:23YTGFLT4:1:1253:35876:19230,LH00995:48:23YTGFLT4:1:1382:35666:29319,LH00995:48:23YTGFLT4:1:1388:7642:22481,LH00995:48:23YTGFLT4:1:1441:44435:28478,LH00995:48:23YTGFLT4:1:1493:49669:5736,LH00995:48:23YTGFLT4:1:1498:17309:28716,LH00995:48:23YTGFLT4:1:2103:50195:29039,LH00995:48:23YTGFLT4:1:2110:2723:5274,LH00995:48:23YTGFLT4:1:2114:9001:29571,LH00995:48:23YTGFLT4:1:2134:48569:19692,LH00995:48:2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ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

108

1391

1443

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(166),mismappers(44)

GTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGA

SHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQ

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H00995:48:23YTGFLT4:3:2330:21379:9562,LH00995:48:23YTGFLT4:3:2337:2278:7754,LH00995:48:23YTGFLT4:3:2340:39686:19833,LH00995:48:23YTGFLT4:3:2383:37203:17268,LH00995:48:23YTGFLT4:3:2397:51465:17871,LH00995:48:23YTGFLT4:3:2490:21306:23308,LH00995:48:23YTGFLT4:4:1120:38505:21542,LH00995:48:23YTGFLT4:4:1144:28134:7978,LH00995:48:23YTGFLT4:4:1144:40698:22173,LH00995:48:23YTGFLT4:4:1187:13103:12238,LH00995:48:23YTGFLT4:4:1229:11946:12672,LH00995:48:23YTGFLT4:4:1230:31208:24401,LH00995:48:23YTGFLT4:4:1272:33910:5988,LH00995:48:23YTGFLT4:4:1282:12342:28576,LH00995:48:23YTGFLT4:4:1293:29574:29669,LH00995:48:23YTGFLT4:4:1305:7723:18473,LH00995:48:23YTGFLT4:4:1363:26354:14564,LH00995:48:23YTGFLT4:4:1370:27729:21570,LH00995:48:23YTGFLT4:4:1406:17633:28268,LH00995:48:23YTGFLT4:4:1408:17390:29277,LH00995:48:23YTGFLT4:4:2119:43448:28955,LH00995:48:23YTGFLT4:4:2132:40293:6703,LH00995:48:23YTGFLT4:4:2167:38481:23097,LH00995:48:23YTGFLT4:4:2185:13167:9435,LH00995:48:23YTGFLT4:4:2229:47040:10094,LH00995:48:23YTGFLT4:4:2246:48286:18081,LH00995:48:23YTGFLT4:4:2279:15627:23280,LH00995:48:23YTGFLT4:4:2279:15635:23294,LH00995:48:23YTGFLT4:4:2285:16549:27175,LH00995:48:23YTGFLT4:4:2298:35463:7670,LH00995:48:23YTGFLT4:4:2298:35471:7684,LH00995:48:23YTGFLT4:4:2308:3726:28338,LH00995:48:23YTGFLT4:4:2333:18062:4545,LH00995:48:23YTGFLT4:4:2375:50268:3718,LH00995:48:23YTGFLT4:4:2395:6372:24765,LH00995:48:23YTGFLT4:4:2430:44597:20631,LH00995:48:23YTGFLT4:5:1156:16217:5022,LH00995:48:23YTGFLT4:5:1214:27106:17661,LH00995:48:23YTGFLT4:5:1221:29825:5050,LH00995:48:23YTGFLT4:5:1233:18450:1126,LH00995:48:23YTGFLT4:5:1233:25529:1925,LH00995:48:23YTGFLT4:5:1253:28822:23434,LH00995:48:23YTGFLT4:5:1316:4988:21332,LH00995:48:23YTGFLT4:5:1438:46903:8539,LH00995:48:23YTGFLT4:5:1447:34444:21542,LH00995:48:23YTGFLT4:5:1485:14615:20099,LH00995:48:23YTGFLT4:5:2109:14923:8777,LH00995:48:23YTGFLT4:5:2215:32753:28450,LH00995:48:23YTGFLT4:5:2352:23296:28072,LH00995:48:23YTGFLT4:5:2450:29849:28408,LH00995:48:23YTGFLT4:6:1162:3880:3746,LH00995:48:23YTGFLT4:6:1223:30253:16329,LH00995:48:23YTGFLT4:6:1256:16848:19118,LH00995:48:23YTGFLT4:6:1269:4738:21122,LH00995:48:23YTGFLT4:6:1297:46919:4475,LH00995:48:23YTGFLT4:6:1344:12132:2934,LH00995:48:23YTGFLT4:6:1344:12140:2948,LH00995:48:23YTGFLT4:6:1344:12156:2948,LH00995:48:23YTGFLT4:6:1347:4001:14186,LH00995:48:23YTGFLT4:6:1347:4009:14200,LH00995:48:23YTGFLT4:6:1394:4665:8272,LH00995:48:23YTGFLT4:6:1394:4673:8286,LH00995:48:23YTGFLT4:6:1427:38230:27035,LH00995:48:23YTGFLT4:6:1449:43796:23980,LH00995:48:23YTGFLT4:6:1484:7278:18067,LH00995:48:23YTGFLT4:6:1484:7286:18081,LH00995:48:23YTGFLT4:6:1485:19219:21094,LH00995:48:23YTGFLT4:6:1491:1105:27469,LH00995:48:23YTGFLT4:6:2125:40940:13149,LH00995:48:23YTGFLT4:6:2130:20634:5526,LH00995:48:23YTGFLT4:6:2133:13467:14634,LH00995:48:23YTGFLT4:6:2222:26937:15433,LH00995:48:23YTGFLT4:6:2236:50333:11705,LH00995:48:23YTGFLT4:6:2338:8038:28184,LH00995:48:23YTGFLT4:6:2356:34323:7039,LH00995:48:23YTGFLT4:6:2413:22527:27245,LH00995:48:23YTGFLT4:6:2446:4082:10038,LH00995:48:23YTGFLT4:6:2474:33732:12574,LH00995:48:23YTGFLT4:6:2478:15182:4741,LH00995:48:23YTGFLT4:6:2485:44241:21920,LH00995:48:23YTGFLT4:6:2495:42866:6058,LH00995:48:23YTGFLT4:7:1141:1429:11411,LH00995:48:23YTGFLT4:7:1178:27875:23252,LH00995:48:23YTGFLT4:7:1182:27559:23574,LH00995:48:23YTGFLT4:7:1326:6048:18964,LH00995:48:23YTGFLT4:7:1346:7957:11930,LH00995:48:23YTGFLT4:7:1346:7965:11944,LH00995:48:23YTGFLT4:7:1346:7982:11944,LH00995:48:23YTGFLT4:7:1482:50389:16596,LH00995:48:23YTGFLT4:7:2103:21541:24975,LH00995:48:23YTGFLT4:7:2124:31726:14844,LH00995:48:23YTGFLT4:7:2175:21128:7502,LH00995:48:23YTGFLT4:7:2175:21144:7502,LH00995:48:23YTGFLT4:7:2197:44314:6745,LH00995:48:23YTGFLT4:7:2197:51684:3060,LH00995:48:23YTGFLT4:7:2203:7844:16526,LH00995:48:23YTGFLT4:7:2224:19534:12924,LH00995:48:23YTGFLT4:7:2242:32697:3746,LH00995:48:23YTGFLT4:7:2270:46870:11341,LH00995:48:23YTGFLT4:7:2282:37623:15110,LH00995:48:23YTGFLT4:7:2301:4907:2864,LH00995:48:23YTGFLT4:7:2339:21282:4601,LH00995:48:23YTGFLT4:7:2394:44921:5778,LH00995:48:23YTGFLT4:7:2408:13790:14438,LH00995:48:23YTGFLT4:7:2491:28514:22369,LH00995:48:23YTGFLT4:8:1135:38319:7292,LH00995:48:23YTGFLT4:8:1181:7391:8258,LH00995:48:23YTGFLT4:8:1190:34298:3999,LH00995:48:23YTGFLT4:8:1195:3071:12126,LH00995:48:23YTGFLT4:8:1352:23328:19076,LH00995:48:23YTGFLT4:8:1457:47461:14101,LH00995:48:23YTGFLT4:8:2180:33667:14256,LH00995:48:23YTGFLT4:8:2190:17771:12756,LH00995:48:23YTGFLT4:8:2221:20796:25087,LH00995:48:23YTGFLT4:8:2239:35787:14228,LH00995:48:23YTGFLT4:8:2272:42623:23686,LH00995:48:23YTGFLT4:8:2290:14478:25942,LH00995:48:23YTGFLT4:8:2368:15675:5652,LH00995:48:23YTGFLT4:8:2368:9834:18487,LH00995:48:23YTGFLT4:8:2382:51579:16470,LH00995:48:23YTGFLT4:8:2456:50640:26250

LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

955

985

medium

in-frame

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

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(210),mismappers(2)

CTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGA

LHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGP

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ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

616

623

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(313)

CTCAGTCAGCACCAGAGACTGCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT?AA

LSQHQRLLTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH

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PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

ACAATCAGCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCC

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

LH00995:48:23YTGFLT4:1:1103:31766:17773,LH00995:48:23YTGFLT4:1:1145:40673:28997,LH00995:48:23YTGFLT4:1:1248:13677:25928,LH00995:48:23YTGFLT4:1:1253:6299:18249,LH00995:48:23YTGFLT4:1:1272:45657:24765,LH00995:48:23YTGFLT4:1:1311:46595:20449,LH00995:48:23YTGFLT4:1:1401:46749:7824,LH00995:48:23YTGFLT4:1:1457:31726:5372,LH00995:48:23YTGFLT4:1:1457:31742:5372,LH00995:48:23YTGFLT4:1:1474:8516:22117,LH00995:48:23YTGFLT4:1:1474:8524:22103,LH00995:48:23YTGFLT4:1:2239:46951:13415,LH00995:48:23YTGFLT4:1:2360:51894:28282,LH00995:48:23YTGFLT4:1:2363:41110:10977,LH00995:48:23YTGFLT4:1:2432:22892:29137,LH00995:48:23YTGFLT4:2:1180:37195:17619,LH00995:48:23YTGFLT4:2:1242:33400:8581,LH00995:48:23YTGFLT4:2:1246:37227:2149,LH00995:48:23YTGFLT4:2:1261:1364:27946,LH00995:48:23YTGFLT4:2:1261:1380:27918,LH00995:48:23YTGFLT4:2:1344:6695:26362,LH00995:48:23YTGFLT4:2:1347:33433:26741,LH00995:48:23YTGFLT4:2:1473:4309:1799,LH00995:48:23YTGFLT4:2:1487:33077:27105,LH00995:48:23YTGFLT4:2:2101:15869:18599,LH00995:48:23YTGFLT4:2:2113:8305:14970,LH00995:48:23YTGFLT4:2:2236:41401:10248,LH00995:48:23YTGFLT4:2:2236:41410:10234,LH00995:48:23YTGFLT4:2:2245:35609:15965,LH00995:48:23YTGFLT4:2:2258:25618:27777,LH00995:48:23YTGFLT4:2:2357:43909:11565,LH00995:48:23YTGFLT4:2:2377:23401:21948,LH00995:48:23YTGFLT4:2:2410:19130:3172,LH00995:48:23YTGFLT4:2:2496:35035:1799,LH00995:48:23YTGFLT4:3:1168:46385:9547,LH00995:48:23YTGFLT4:3:1168:46393:9562,LH00995:48:23YTGFLT4:3:1258:19623:27119,LH00995:48:23YTGFLT4:3:1322:18054:24709,LH00995:48:23YTGFLT4:3:1362:2254:23406,LH00995:48:23YTGFLT4:3:1401:29477:29613,LH00995:48:23YTGFLT4:3:1448:44921:13933,LH00995:48:23YTGFLT4:3:1473:24267:18403,LH00995:48:23YTGFLT4:3:2103:14899:26306,LH00995:48:23YTGFLT4:3:2162:48966:25367,LH00995:48:23YTGFLT4:3:2190:41070:19286,LH00995:48:23YTGFLT4:3:2203:34339:3396,LH00995:48:23YTGFLT4:3:2221:32745:26671,LH00995:48:23YTGFLT4:3:2244:29930:23728,LH00995:48:23YTGFLT4:3:2279:10028:6465,LH00995:48:23YTGFLT4:3:2360:27891:1701,LH00995:48:23YTGFLT4:3:2379:52194:17310,LH00995:48:23YTGFLT4:3:2401:28700:10584,LH00995:48:23YTGFLT4:3:2408:8046:27497,LH00995:48:23YTGFLT4:3:2427:17366:24190,LH00995:48:23YTGFLT4:3:2433:32583:25970,LH00995:48:23YTGFLT4:3:2448:47097:11565,LH00995:48:23YTGFLT4:4:1103:4810:19146,LH00995:48:23YTGFLT4:4:1139:22875:20393,LH00995:48:23YTGFLT4:4:1183:18296:27623,LH00995:48:23YTGFLT4:4:1229:24032:26040,LH00995:48:23YTGFLT4:4:1346:10085:3200,LH00995:48:23YTGFLT4:4:1346:10101:3200,LH00995:48:23YTGFLT4:4:1354:42930:19146,LH00995:48:23YTGFLT4:4:1431:41798:22929,LH00995:48:23YTGFLT4:4:1459:3565:28814,LH00995:48:23YTGFLT4:4:1467:37575:20351,LH00995:48:23YTGFLT4:4:2114:12609:14746,LH00995:48:23YTGFLT4:4:2144:7844:1532,LH00995:48:23YTGFLT4:4:2170:51109:17394,LH00995:48:23YTGFLT4:4:2287:48197:17871,LH00995:48:23YTGFLT4:4:2359:50114:4461,LH00995:48:23YTGFLT4:4:2369:42000:19664,LH00995:48:23YTGFLT4:4:2461:51918:16414,LH00995:48:23YTGFLT4:5:1103:34007:18095,LH00995:48:23YTGFLT4:5:1133:46207:10753,LH00995:48:23YTGFLT4:5:1156:34751:21066,LH00995:48:23YTGFLT4:5:1196:10255:26306,LH00995:48:23YTGFLT4:5:1235:21055:19118,LH00995:48:23YTGFLT4:5:1351:3111:24471,LH00995:48:23YTGFLT4:5:2116:36192:7530,LH00995:48:23YTGFLT4:5:2201:30181:5582,LH00995:48:23YTGFLT4:5:2414:49103:7306,LH00995:48:23YTGFLT4:5:2432:19858:8076,LH00995:48:23YTGFLT4:5:2484:19567:14606,LH00995:48:23YTGFLT4:6:1114:51975:8945,LH00995:48:23YTGFLT4:6:1161:29364:21626,LH00995:48:23YTGFLT4:6:1264:6291:19608,LH00995:48:23YTGFLT4:6:1447:4406:17212,LH00995:48:23YTGFLT4:6:1494:49613:6030,LH00995:48:23YTGFLT4:6:1495:15279:13821,LH00995:48:23YTGFLT4:6:1497:44565:13849,LH00995:48:23YTGFLT4:6:2117:43214:8651,LH00995:48:23YTGFLT4:6:2355:16517:11117,LH00995:48:23YTGFLT4:6:2369:11614:15208,LH00995:48:23YTGFLT4:6:2384:15910:7095,LH00995:48:23YTGFLT4:7:1123:45220:26054,LH00995:48:23YTGFLT4:7:1187:30100:19118,LH00995:48:23YTGFLT4:7:1232:32559:18165,LH00995:48:23YTGFLT4:7:1279:14284:2233,LH00995:48:23YTGFLT4:7:1292:24785:18459,LH00995:48:23YTGFLT4:7:1324:52153:3004,LH00995:48:23YTGFLT4:7:1408:17172:7852,LH00995:48:23YTGFLT4:7:1465:44832:19833,LH00995:48:23YTGFLT4:7:1469:2011:18305,LH00995:48:23YTGFLT4:7:2152:46183:7964,LH00995:48:23YTGFLT4:7:2154:31006:6451,LH00995:48:23YTGFLT4:7:2178:14793:3004,LH00995:48:23YTGFLT4:7:2270:14842:24387,LH00995:48:23YTGFLT4:7:2357:42769:25984,LH00995:48:23YTGFLT4:7:2380:16970:18011,LH00995:48:23YTGFLT4:7:2416:43780:5848,LH00995:48:23YTGFLT4:7:2449:20359:9842,LH00995:48:23YTGFLT4:8:1104:8103:26783,LH00995:48:23YTGFLT4:8:1116:38497:24863,LH00995:48:23YTGFLT4:8:1214:15182:4265,LH00995:48:23YTGFLT4:8:1309:1032:22635,LH00995:48:23YTGFLT4:8:1309:1040:22649,LH00995:48:23YTGFLT4:8:1401:20384:23700,LH00995:48:23YTGFLT4:8:1408:1526:3508,LH00995:48:23YTGFLT4:8:1408:1542:3508,LH00995:48:23YTGFLT4:8:1460:37292:5092,LH00995:48:23YTGFLT4:8:1471:31402:29557,LH00995:48:23YTGFLT4:8:1474:47267:26264,LH00995:48:23YTGFLT4:8:2395:7415:18389,LH00995:48:23YTGFLT4:8:2398:41296:1490,LH00995:48:23YTGFLT4:8:2443:12277:4699,LH00995:48:23YTGFLT4:8:2443:24712:7348,LH00995:48:23YTGFLT4:1:1244:36224:28912,LH00995:48:23YTGFLT4:1:1244:36232:28926,LH00995:48:23YTGFLT4:1:1263:26030:19076,LH00995:48:23YTGFLT4:1:1421:42833:13233,LH00995:48:23YTGFLT4:1:1449:35156:14452,LH00995:48:23YTGFLT4:1:2181:20448:15489,LH00995:48:23YTGFLT4:1:2317:27042:1883,LH00995:48:23YTGFLT4:1:2435:42728:14452,LH00995:48:23YTGFLT4:2:1107:12706:10654,LH00995:48:23YTGFLT4:2:1262:30674:20869,LH00995:48:23YTGFLT4:2:2225:21363:10851,LH00995:48:23YTGFLT4:2:2337:22042:20071,LH00995:48:23YTGFLT4:2:2381:40706:22271,LH00995:48:23YTGFLT4:3:1411:21225:19720,LH00995:48:23YTGFLT4:3:1454:13459:24373,LH00995:48:23YTGFLT4:3:2128:48084:11930,LH00995:48:23YTGFLT4:3:2152:10748:27105,LH00995:48:23YTGFLT4:3:2190:29331:27623,LH00995:48:23YTGFLT4:3:2264:2521:19244,LH00995:48:23YTGFLT4:3:2276:30512:16806,LH00995:48:23YTGFLT4:4:1104:19809:22145,LH00995:48:23YTGFLT4:4:1123:32810:20337,LH00995:48:23YTGFLT4:4:1123:32826:20337,LH00995:48:23YTGFLT4:4:1125:20448:26390,LH00995:48:23YTGFLT4:4:1125:20456:26404,LH00995:48:23YTGFLT4:4:1126:20198:2611,LH00995:48:23YTGFLT4:4:1282:10239:10444,LH00995:48:23YTGFLT4:4:1406:19154:14200,LH00995:48:23YTGFLT4:4:2308:40754:11705,LH00995:48:23YTGFLT4:4:2338:36709:27792,LH00995:48:23YTGFLT4:4:2409:31119:19398,LH00995:48:23YTGFLT4:4:2465:18855:27021,LH00995:48:23YTGFLT4:5:1167:14462:28240,LH00995:48:23YTGFLT4:5:1171:41369:13611,LH00995:48:23YTGFLT4:5:1181:22309:1280,LH00995:48:23YTGFLT4:5:1222:30278:21416,LH00995:48:23YTGFLT4:5:1260:14526:19945,LH00995:48:23YTGFLT4:5:2120:27123:15279,LH00995:48:23YTGFLT4:5:2138:27349:16484,LH00995:48:23YTGFLT4:5:2167:42065:23560,LH00995:48:23YTGFLT4:5:2289:32446:15026,LH00995:48:23YTGFLT4:5:2349:20319:1112,LH00995:48:23YTGFLT4:5:2397:45058:20393,LH00995:48:23YTGFLT4:6:1103:30229:21080,LH00995:48:23YTGFLT4:6:1112:11525:14466,LH00995:48:23YTGFLT4:6:1223:20109:18571,LH00995:48:23YTGFLT4:6:2205:40876:28030,LH00995:48:23YTGFLT4:6:2247:10465:19664,LH00995:48:23YTGFLT4:6:2359:3702:7221,LH00995:48:23YTGFLT4:6:2370:14235:29613,LH00995:48:23YTGFLT4:6:2398:37195:18235,LH00995:48:23YTGFLT4:6:2477:44840:11243,LH00995:48:23YTGFLT4:7:1138:10506:20099,LH00995:48:23YTGFLT4:7:1336:3823:23854,LH00995:48:23YTGFLT4:7:1414:36750:28842,LH00995:48:23YTGFLT4:7:2143:21225:8090,LH00995:48:23YTGFLT4:8:1141:40924:19819,LH00995:48:23YTGFLT4:8:1278:50050:12896,LH00995:48:23YTGFLT4:8:1407:5975:4573,LH00995:48:23YTGFLT4:8:2223:49710:12224,LH00995:48:23YTGFLT4:8:2263:3726:15251,LH00995:48:23YTGFLT4:8:2279:12674:17829,LH00995:48:23YTGFLT4:8:2368:18070:14424,LH00995:48:23YTGFLT4:8:2408:16395:17212,LH00995:48:23YTGFLT4:8:2430:30504:12924

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

520

8731

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(129),low_entropy(3),mismatches(1)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

ATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGC

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

LH00995:48:23YTGFLT4:1:1107:21824:28268,LH00995:48:23YTGFLT4:1:1130:51878:5302,LH00995:48:23YTGFLT4:1:1134:51320:19496,LH00995:48:23YTGFLT4:1:1145:43238:11972,LH00995:48:23YTGFLT4:1:1379:27365:24387,LH00995:48:23YTGFLT4:1:2268:40795:2107,LH00995:48:23YTGFLT4:1:2439:17042:6507,LH00995:48:23YTGFLT4:2:1135:14284:24737,LH00995:48:23YTGFLT4:2:1272:48877:4755,LH00995:48:23YTGFLT4:2:1281:24412:13051,LH00995:48:23YTGFLT4:2:1369:49775:1322,LH00995:48:23YTGFLT4:2:1409:47954:20954,LH00995:48:23YTGFLT4:2:1474:32349:17100,LH00995:48:23YTGFLT4:2:2206:13038:5260,LH00995:48:23YTGFLT4:2:2415:47153:3228,LH00995:48:23YTGFLT4:2:2473:38360:16133,LH00995:48:23YTGFLT4:3:1113:48132:11425,LH00995:48:23YTGFLT4:3:1250:1227:13219,LH00995:48:23YTGFLT4:3:2220:30278:27665,LH00995:48:23YTGFLT4:3:2235:5797:7600,LH00995:48:23YTGFLT4:3:2295:3767:9071,LH00995:48:23YTGFLT4:4:1181:35051:2275,LH00995:48:23YTGFLT4:4:1248:5603:26096,LH00995:48:23YTGFLT4:4:1260:32163:21710,LH00995:48:23YTGFLT4:4:1280:24162:10739,LH00995:48:23YTGFLT4:4:1331:20909:16287,LH00995:48:23YTGFLT4:4:1331:20926:16287,LH00995:48:23YTGFLT4:4:1426:25812:1490,LH00995:48:23YTGFLT4:4:2137:12544:11103,LH00995:48:23YTGFLT4:4:2307:3718:26979,LH00995:48:23YTGFLT4:4:2321:50389:17829,LH00995:48:23YTGFLT4:4:2364:44427:13807,LH00995:48:23YTGFLT4:4:2438:41919:10668,LH00995:48:23YTGFLT4:4:2463:23070:11145,LH00995:48:23YTGFLT4:5:1143:8232:5008,LH00995:48:23YTGFLT4:5:1176:12731:3943,LH00995:48:23YTGFLT4:5:1182:46053:19426,LH00995:48:23YTGFLT4:5:1312:13184:13359,LH00995:48:23YTGFLT4:5:1412:18863:21178,LH00995:48:23YTGFLT4:5:2168:20869:11005,LH00995:48:23YTGFLT4:5:2292:9187:22831,LH00995:48:23YTGFLT4:5:2433:5538:27609,LH00995:48:23YTGFLT4:5:2433:5547:27623,LH00995:48:23YTGFLT4:5:2456:29582:1855,LH00995:48:23YTGFLT4:6:1165:32203:22901,LH00995:48:23YTGFLT4:6:1179:8597:26797,LH00995:48:23YTGFLT4:6:1265:37979:10963,LH00995:48:23YTGFLT4:6:2128:8071:2401,LH00995:48:23YTGFLT4:6:2179:11533:25802,LH00995:48:23YTGFLT4:6:2251:4940:25395,LH00995:48:23YTGFLT4:7:1217:4001:2780,LH00995:48:23YTGFLT4:7:1241:15117:24779,LH00995:48:23YTGFLT4:7:1298:36078:12266,LH00995:48:23YTGFLT4:7:1298:39023:20281,LH00995:48:23YTGFLT4:7:1486:44686:10416,LH00995:48:23YTGFLT4:7:2102:30723:6016,LH00995:48:23YTGFLT4:7:2123:2327:7418,LH00995:48:23YTGFLT4:7:2165:30278:17633,LH00995:48:23YTGFLT4:7:2486:22115:7810,LH00995:48:23YTGFLT4:8:1152:9268:3662,LH00995:48:23YTGFLT4:8:1157:1655:5106,LH00995:48:23YTGFLT4:8:1307:31645:9688,LH00995:48:23YTGFLT4:8:1383:19049:19482,LH00995:48:23YTGFLT4:8:2354:13491:1589,LH00995:48:23YTGFLT4:8:2475:1445:8356,LH00995:48:23YTGFLT4:1:1174:50033:20071,LH00995:48:23YTGFLT4:1:1174:50042:20057,LH00995:48:23YTGFLT4:1:1174:50050:20071,LH00995:48:23YTGFLT4:1:1302:17690:18782,LH00995:48:23YTGFLT4:1:1483:41377:16876,LH00995:48:23YTGFLT4:1:1492:20554:26124,LH00995:48:23YTGFLT4:1:2121:21791:6269,LH00995:48:23YTGFLT4:1:2164:45123:26446,LH00995:48:23YTGFLT4:1:2270:6671:16456,LH00995:48:23YTGFLT4:1:2363:44241:14073,LH00995:48:23YTGFLT4:1:2409:12375:14031,LH00995:48:23YTGFLT4:1:2475:38109:3144,LH00995:48:23YTGFLT4:1:2481:36863:21024,LH00995:48:23YTGFLT4:2:1177:27689:14382,LH00995:48:23YTGFLT4:2:1209:41693:20421,LH00995:48:23YTGFLT4:2:1228:15182:20323,LH00995:48:23YTGFLT4:2:2135:1591:10010,LH00995:48:23YTGFLT4:2:2197:30140:17030,LH00995:48:23YTGFLT4:3:1149:3435:20127,LH00995:48:23YTGFLT4:3:1171:50268:9155,LH00995:48:23YTGFLT4:3:1183:29347:3578,LH00995:48:23YTGFLT4:3:1205:6825:23700,LH00995:48:23YTGFLT4:3:1271:12852:7656,LH00995:48:23YTGFLT4:3:1304:23992:23336,LH00995:48:23YTGFLT4:3:1315:26856:16610,LH00995:48:23YTGFLT4:3:1316:6873:28072,LH00995:48:23YTGFLT4:3:1365:12213:3214,LH00995:48:23YTGFLT4:3:1377:9025:19720,LH00995:48:23YTGFLT4:3:1459:40018:22761,LH00995:48:23YTGFLT4:3:1488:20990:1743,LH00995:48:23YTGFLT4:3:2115:37761:1869,LH00995:48:23YTGFLT4:3:2122:21500:6857,LH00995:48:23YTGFLT4:3:2253:1040:18389,LH00995:48:23YTGFLT4:3:2260:47623:1238,LH00995:48:23YTGFLT4:3:2266:14947:10444,LH00995:48:23YTGFLT4:3:2404:5401:18599,LH00995:48:23YTGFLT4:3:2420:51635:21024,LH00995:48:23YTGFLT4:3:2436:51239:28128,LH00995:48:23YTGFLT4:3:2450:34735:23195,LH00995:48:23YTGFLT4:3:2484:11088:18333,LH00995:48:23YTGFLT4:3:2488:15562:14760,LH00995:48:23YTGFLT4:3:2488:15578:14760,LH00995:48:23YTGFLT4:4:1149:15319:21346,LH00995:48:23YTGFLT4:4:1164:51012:18263,LH00995:48:23YTGFLT4:4:1381:27511:8048,LH00995:48:23YTGFLT4:4:1450:15392:19398,LH00995:48:23YTGFLT4:4:2114:12795:20925,LH00995:48:23YTGFLT4:4:2202:17042:14270,LH00995:48:23YTGFLT4:4:2291:48294:23756,LH00995:48:23YTGFLT4:4:2319:29558:3578,LH00995:48:23YTGFLT4:4:2369:8742:23994,LH00995:48:23YTGFLT4:5:1125:46450:7081,LH00995:48:23YTGFLT4:5:1342:33303:1322,LH00995:48:23YTGFLT4:5:1429:13782:4531,LH00995:48:23YTGFLT4:5:1432:25828:8833,LH00995:48:23YTGFLT4:5:2118:3783:19720,LH00995:48:23YTGFLT4:5:2383:30537:29543,LH00995:48:23YTGFLT4:6:1158:15473:4153,LH00995:48:23YTGFLT4:6:1192:28652:10136,LH00995:48:23YTGFLT4:6:1373:28579:5666,LH00995:48:23YTGFLT4:6:1398:2489:20001,LH00995:48:23YTGFLT4:6:1442:38707:24583,LH00995:48:23YTGFLT4:6:1469:46628:4979,LH00995:48:23YTGFLT4:6:2106:40528:5120,LH00995:48:23YTGFLT4:6:2212:5668:10823,LH00995:48:23YTGFLT4:6:2275:31855:15236,LH00995:48:23YTGFLT4:6:2293:35989:17464,LH00995:48:23YTGFLT4:6:2305:31135:28898,LH00995:48:23YTGFLT4:6:2316:20909:7796,LH00995:48:23YTGFLT4:6:2379:48788:14382,LH00995:48:23YTGFLT4:6:2395:16573:28646,LH00995:48:23YTGFLT4:7:1117:18612:1967,LH00995:48:23YTGFLT4:7:1132:37753:2247,LH00995:48:23YTGFLT4:7:1141:4746:17044,LH00995:48:23YTGFLT4:7:1151:1591:28618,LH00995:48:23YTGFLT4:7:1204:30949:23840,LH00995:48:23YTGFLT4:7:1218:12520:5932,LH00995:48:23YTGFLT4:7:1255:38829:23560,LH00995:48:23YTGFLT4:7:1290:45722:28969,LH00995:48:23YTGFLT4:7:1318:10012:1224,LH00995:48:23YTGFLT4:7:1378:9834:14900,LH00995:48:23YTGFLT4:7:1427:7076:10346,LH00995:48:23YTGFLT4:7:1457:39152:14368,LH00995:48:23YTGFLT4:7:2123:13831:26558,LH00995:48:23YTGFLT4:7:2125:21977:10038,LH00995:48:23YTGFLT4:7:2278:28611:24218,LH00995:48:23YTGFLT4:7:2463:26961:5666,LH00995:48:23YTGFLT4:8:1120:47728:19300,LH00995:48:23YTGFLT4:8:1152:6347:23097,LH00995:48:23YTGFLT4:8:1164:33190:4125,LH00995:48:23YTGFLT4:8:1172:43796:10640,LH00995:48:23YTGFLT4:8:1350:5344:15307,LH00995:48:23YTGFLT4:8:1374:14826:23854,LH00995:48:23YTGFLT4:8:1446:38020:20253,LH00995:48:23YTGFLT4:8:2217:43011:8581,LH00995:48:23YTGFLT4:8:2245:32244:26699,LH00995:48:23YTGFLT4:8:2268:51918:29529,LH00995:48:23YTGFLT4:8:2283:36167:28394,LH00995:48:23YTGFLT4:8:2426:48739:21584,LH00995:48:23YTGFLT4:8:2440:10215:1126,LH00995:48:23YTGFLT4:8:2469:4867:16778,LH00995:48:23YTGFLT4:8:2477:24768:21290

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

560

8731

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(107),low_entropy(2)

LIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

TTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTG

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:48:23YTGFLT4:1:1107:12002:24092,LH00995:48:23YTGFLT4:1:1122:6801:17016,LH00995:48:23YTGFLT4:1:1333:34460:14816,LH00995:48:23YTGFLT4:1:1376:32624:21416,LH00995:48:23YTGFLT4:1:1438:26225:29529,LH00995:48:23YTGFLT4:1:1447:28830:5120,LH00995:48:23YTGFLT4:1:1459:37348:17997,LH00995:48:23YTGFLT4:1:2113:38716:29389,LH00995:48:23YTGFLT4:1:2122:42858:22635,LH00995:48:23YTGFLT4:1:2223:12941:17983,LH00995:48:23YTGFLT4:1:2235:45576:7193,LH00995:48:23YTGFLT4:1:2334:40698:10711,LH00995:48:23YTGFLT4:1:2379:29469:19370,LH00995:48:23YTGFLT4:1:2477:8597:6815,LH00995:48:23YTGFLT4:2:1113:30043:19889,LH00995:48:23YTGFLT4:2:1138:32333:8441,LH00995:48:23YTGFLT4:2:1138:32349:8441,LH00995:48:23YTGFLT4:2:1262:21354:13639,LH00995:48:23YTGFLT4:2:1372:6178:5232,LH00995:48:23YTGFLT4:2:1387:12892:12546,LH00995:48:23YTGFLT4:2:1401:20748:8889,LH00995:48:23YTGFLT4:2:1401:29906:5274,LH00995:48:23YTGFLT4:2:2257:33044:28618,LH00995:48:23YTGFLT4:2:2287:7043:2247,LH00995:48:23YTGFLT4:2:2439:44815:2990,LH00995:48:23YTGFLT4:3:1170:4220:20225,LH00995:48:23YTGFLT4:3:1451:12043:9842,LH00995:48:23YTGFLT4:3:2119:19583:19006,LH00995:48:23YTGFLT4:3:2195:49322:27133,LH00995:48:23YTGFLT4:3:2238:26686:6675,LH00995:48:23YTGFLT4:3:2240:27009:5526,LH00995:48:23YTGFLT4:3:2250:27098:6745,LH00995:48:23YTGFLT4:3:2296:46361:11719,LH00995:48:23YTGFLT4:3:2333:42324:2850,LH00995:48:23YTGFLT4:3:2446:2311:27427,LH00995:48:23YTGFLT4:3:2455:11258:14284,LH00995:48:23YTGFLT4:4:1108:33044:5862,LH00995:48:23YTGFLT4:4:1216:23231:22299,LH00995:48:23YTGFLT4:4:1254:36734:13373,LH00995:48:23YTGFLT4:4:1391:28757:11495,LH00995:48:23YTGFLT4:4:1453:38295:22383,LH00995:48:23YTGFLT4:4:1465:17156:3172,LH00995:48:23YTGFLT4:4:2154:49386:19230,LH00995:48:23YTGFLT4:4:2242:27543:19314,LH00995:48:23YTGFLT4:4:2458:9559:26250,LH00995:48:23YTGFLT4:4:2494:43173:15615,LH00995:48:23YTGFLT4:4:2496:7990:14116,LH00995:48:23YTGFLT4:5:1120:32729:6577,LH00995:48:23YTGFLT4:5:1159:11719:1518,LH00995:48:23YTGFLT4:5:1180:41102:24078,LH00995:48:23YTGFLT4:5:1307:33789:25536,LH00995:48:23YTGFLT4:5:1317:3168:18319,LH00995:48:23YTGFLT4:5:1320:27964:5470,LH00995:48:23YTGFLT4:5:1328:35827:20491,LH00995:48:23YTGFLT4:5:1337:1024:17352,LH00995:48:23YTGFLT4:5:1358:2537:14900,LH00995:48:23YTGFLT4:5:1367:25958:23013,LH00995:48:23YTGFLT4:5:1480:51935:29473,LH00995:48:23YTGFLT4:5:2131:1922:4307,LH00995:48:23YTGFLT4:5:2156:51918:6885,LH00995:48:23YTGFLT4:5:2157:1146:24961,LH00995:48:23YTGFLT4:5:2157:1712:5736,LH00995:48:23YTGFLT4:5:2172:12973:20085,LH00995:48:23YTGFLT4:5:2191:46304:19160,LH00995:48:23YTGFLT4:5:2237:31645:1589,LH00995:48:23YTGFLT4:5:2292:43594:1434,LH00995:48:23YTGFLT4:5:2298:22471:19160,LH00995:48:23YTGFLT4:5:2338:2966:5582,LH00995:48:23YTGFLT4:5:2431:6631:18067,LH00995:48:23YTGFLT4:5:2437:9236:23476,LH00995:48:23YTGFLT4:5:2451:18774:9393,LH00995:48:23YTGFLT4:6:1105:26265:13765,LH00995:48:23YTGFLT4:6:1158:49338:28842,LH00995:48:23YTGFLT4:6:1173:38230:16414,LH00995:48:23YTGFLT4:6:1302:6922:23952,LH00995:48:23YTGFLT4:6:1379:8564:27637,LH00995:48:23YTGFLT4:6:1435:43578:22117,LH00995:48:23YTGFLT4:6:1465:46555:17352,LH00995:48:23YTGFLT4:6:2232:44128:18277,LH00995:48:23YTGFLT4:6:2322:7456:7193,LH00995:48:23YTGFLT4:6:2425:23717:11677,LH00995:48:23YTGFLT4:6:2446:40665:2639,LH00995:48:23YTGFLT4:7:1105:17601:25690,LH00995:48:23YTGFLT4:7:1105:17617:25690,LH00995:48:23YTGFLT4:7:1187:10223:13583,LH00995:48:23YTGFLT4:7:1236:39112:1406,LH00995:48:23YTGFLT4:7:1266:16444:23686,LH00995:48:23YTGFLT4:7:1307:49572:23420,LH00995:48:23YTGFLT4:7:1414:34881:16077,LH00995:48:23YTGFLT4:7:1449:44702:25101,LH00995:48:23YTGFLT4:7:1463:47194:28688,LH00995:48:23YTGFLT4:7:1470:18013:17745,LH00995:48:23YTGFLT4:7:1493:21816:13177,LH00995:48:23YTGFLT4:7:1493:21824:13191,LH00995:48:23YTGFLT4:7:2153:21856:28016,LH00995:48:23YTGFLT4:7:2230:10846:26909,LH00995:48:23YTGFLT4:7:2230:33821:29095,LH00995:48:23YTGFLT4:7:2235:42461:27890,LH00995:48:23YTGFLT4:7:2243:6558:6535,LH00995:48:23YTGFLT4:7:2327:30027:18627,LH00995:48:23YTGFLT4:7:2329:5352:7586,LH00995:48:23YTGFLT4:7:2332:36871:6269,LH00995:48:23YTGFLT4:7:2355:51101:19790,LH00995:48:23YTGFLT4:8:1146:18555:16442,LH00995:48:23YTGFLT4:8:1192:44427:18543,LH00995:48:23YTGFLT4:8:1195:22131:17394,LH00995:48:23YTGFLT4:8:1332:42939:19384,LH00995:48:23YTGFLT4:8:1332:42947:19398,LH00995:48:23YTGFLT4:8:1463:29275:8609,LH00995:48:23YTGFLT4:8:1463:29291:8609,LH00995:48:23YTGFLT4:8:2129:38392:8987,LH00995:48:23YTGFLT4:8:2192:13159:15923,LH00995:48:23YTGFLT4:8:2263:50511:18123,LH00995:48:23YTGFLT4:8:2455:42154:13317,LH00995:48:23YTGFLT4:1:2153:22374:24541,LH00995:48:23YTGFLT4:1:2431:44896:28240,LH00995:48:23YTGFLT4:1:2445:18385:17773,LH00995:48:23YTGFLT4:2:1106:17762:18319,LH00995:48:23YTGFLT4:2:1196:17932:8609,LH00995:48:23YTGFLT4:2:1294:40770:3130,LH00995:48:23YTGFLT4:2:1294:40787:3130,LH00995:48:23YTGFLT4:2:1294:40795:3144,LH00995:48:23YTGFLT4:2:1366:26759:26642,LH00995:48:23YTGFLT4:2:2345:39581:26909,LH00995:48:23YTGFLT4:2:2357:21824:8286,LH00995:48:23YTGFLT4:3:1143:29744:27806,LH00995:48:23YTGFLT4:3:1256:24364:20365,LH00995:48:23YTGFLT4:3:1303:43254:23462,LH00995:48:23YTGFLT4:3:1496:11606:26124,LH00995:48:23YTGFLT4:3:2165:32244:18655,LH00995:48:23YTGFLT4:3:2172:20869:7081,LH00995:48:23YTGFLT4:3:2248:39411:16161,LH00995:48:23YTGFLT4:3:2323:31944:6535,LH00995:48:23YTGFLT4:3:2412:18005:7221,LH00995:48:23YTGFLT4:3:2416:40981:4307,LH00995:48:23YTGFLT4:4:1143:46102:12896,LH00995:48:23YTGFLT4:4:1206:48173:6367,LH00995:48:23YTGFLT4:4:1304:30828:20267,LH00995:48:23YTGFLT4:4:1337:50478:11117,LH00995:48:23YTGFLT4:4:2115:20626:11285,LH00995:48:23YTGFLT4:4:2205:3419:25788,LH00995:48:23YTGFLT4:4:2294:34501:12224,LH00995:48:23YTGFLT4:4:2381:35544:24989,LH00995:48:23YTGFLT4:4:2434:43351:1546,LH00995:48:23YTGFLT4:4:2434:50365:4867,LH00995:48:23YTGFLT4:5:1168:28498:23266,LH00995:48:23YTGFLT4:5:1411:44087:8483,LH00995:48:23YTGFLT4:5:1456:39970:3844,LH00995:48:23YTGFLT4:5:1489:28037:12210,LH00995:48:23YTGFLT4:5:2314:51773:4307,LH00995:48:23YTGFLT4:5:2349:33012:4237,LH00995:48:23YTGFLT4:5:2354:7909:7193,LH00995:48:23YTGFLT4:5:2380:19987:11271,LH00995:48:23YTGFLT4:5:2462:32915:6703,LH00995:48:23YTGFLT4:5:2471:21201:8525,LH00995:48:23YTGFLT4:6:1171:31257:8987,LH00995:48:23YTGFLT4:6:1284:2262:21822,LH00995:48:23YTGFLT4:6:1317:7885:9842,LH00995:48:23YTGFLT4:6:1325:32122:3957,LH00995:48:23YTGFLT4:6:1379:20675:1196,LH00995:48:23YTGFLT4:6:1476:42922:2009,LH00995:48:23YTGFLT4:6:2360:15465:23532,LH00995:48:23YTGFLT4:6:2410:12391:18011,LH00995:48:23YTGFLT4:7:1245:48796:19188,LH00995:48:23YTGFLT4:7:1292:9583:16147,LH00995:48:23YTGFLT4:7:1297:13717:11201,LH00995:48:23YTGFLT4:7:1297:19995:1841,LH00995:48:23YTGFLT4:7:2108:9171:9688,LH00995:48:23YTGFLT4:7:2119:12561:18726,LH00995:48:23YTGFLT4:7:2189:19688:1392,LH00995:48:23YTGFLT4:7:2191:16792:6829,LH00995:48:23YTGFLT4:7:2310:27657:1603,LH00995:48:23YTGFLT4:7:2331:46207:12910,LH00995:48:23YTGFLT4:7:2433:4333:12126,LH00995:48:23YTGFLT4:8:1185:11096:29417,LH00995:48:23YTGFLT4:8:1310:17067:15993,LH00995:48:23YTGFLT4:8:2170:29906:15279,LH00995:48:23YTGFLT4:8:2249:36847:7067,LH00995:48:23YTGFLT4:8:2309:1356:24429,LH00995:48:23YTGFLT4:8:2394:51797:25479,LH00995:48:23YTGFLT4:8:2404:27479:19062

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

GGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTT

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

LH00995:48:23YTGFLT4:1:1172:34525:24401,LH00995:48:23YTGFLT4:1:1172:34541:24401,LH00995:48:23YTGFLT4:1:1243:25108:8286,LH00995:48:23YTGFLT4:1:1451:21298:26404,LH00995:48:23YTGFLT4:1:1495:32049:7109,LH00995:48:23YTGFLT4:1:2117:30448:11509,LH00995:48:23YTGFLT4:1:2198:7343:3046,LH00995:48:23YTGFLT4:1:2234:23506:11397,LH00995:48:23YTGFLT4:1:2274:23992:23167,LH00995:48:23YTGFLT4:1:2312:2780:28408,LH00995:48:23YTGFLT4:1:2331:26783:5078,LH00995:48:23YTGFLT4:1:2363:32713:26979,LH00995:48:23YTGFLT4:1:2366:2658:28534,LH00995:48:23YTGFLT4:1:2476:20821:20897,LH00995:48:23YTGFLT4:1:2479:47453:10388,LH00995:48:23YTGFLT4:2:1302:15967:4503,LH00995:48:23YTGFLT4:2:1368:49597:19678,LH00995:48:23YTGFLT4:2:1444:38020:23644,LH00995:48:23YTGFLT4:2:1446:39654:11930,LH00995:48:23YTGFLT4:2:2118:11687:12084,LH00995:48:23YTGFLT4:2:2231:19389:21920,LH00995:48:23YTGFLT4:2:2387:52048:14620,LH00995:48:23YTGFLT4:3:1153:36386:2822,LH00995:48:23YTGFLT4:3:1272:48480:1827,LH00995:48:23YTGFLT4:3:1383:39023:12350,LH00995:48:23YTGFLT4:3:1459:26637:1659,LH00995:48:23YTGFLT4:3:2153:2553:9015,LH00995:48:23YTGFLT4:3:2271:2917:6871,LH00995:48:23YTGFLT4:4:1132:13062:7067,LH00995:48:23YTGFLT4:4:1217:17107:9281,LH00995:48:23YTGFLT4:4:1312:45835:21738,LH00995:48:23YTGFLT4:4:1393:6720:6675,LH00995:48:23YTGFLT4:4:1420:47849:22817,LH00995:48:23YTGFLT4:4:2254:19340:3116,LH00995:48:23YTGFLT4:4:2350:7051:14424,LH00995:48:23YTGFLT4:4:2450:50155:14256,LH00995:48:23YTGFLT4:5:1118:33384:15559,LH00995:48:23YTGFLT4:5:1161:5247:21948,LH00995:48:23YTGFLT4:5:1237:5312:26432,LH00995:48:23YTGFLT4:5:1277:13394:4279,LH00995:48:23YTGFLT4:5:2137:33125:2724,LH00995:48:23YTGFLT4:5:2162:29986:27161,LH00995:48:23YTGFLT4:5:2177:38060:2247,LH00995:48:23YTGFLT4:5:2186:2019:29053,LH00995:48:23YTGFLT4:5:2285:4972:8048,LH00995:48:23YTGFLT4:5:2289:47024:25479,LH00995:48:23YTGFLT4:5:2412:20634:6899,LH00995:48:23YTGFLT4:5:2498:32397:12868,LH00995:48:23YTGFLT4:6:1271:21816:4405,LH00995:48:23YTGFLT4:6:1304:14858:15615,LH00995:48:23YTGFLT4:6:2314:48820:15923,LH00995:48:23YTGFLT4:6:2360:19283:27932,LH00995:48:23YTGFLT4:6:2402:6064:9800,LH00995:48:23YTGFLT4:6:2464:51328:4825,LH00995:48:23YTGFLT4:6:2470:50009:14284,LH00995:48:23YTGFLT4:6:2473:50972:27217,LH00995:48:23YTGFLT4:6:2498:36410:11159,LH00995:48:23YTGFLT4:7:1126:5393:1911,LH00995:48:23YTGFLT4:7:1146:11040:27245,LH00995:48:23YTGFLT4:7:1215:38942:27932,LH00995:48:23YTGFLT4:7:1325:35714:27890,LH00995:48:23YTGFLT4:7:2239:22762:3382,LH00995:48:23YTGFLT4:7:2302:20869:17338,LH00995:48:23YTGFLT4:7:2304:27487:27035,LH00995:48:23YTGFLT4:7:2353:33570:14592,LH00995:48:23YTGFLT4:7:2363:6881:29291,LH00995:48:23YTGFLT4:7:2413:43206:17324,LH00995:48:23YTGFLT4:7:2443:46215:12896,LH00995:48:23YTGFLT4:8:1102:35908:2695,LH00995:48:23YTGFLT4:8:1221:31305:7642,LH00995:48:23YTGFLT4:8:1223:5538:16175,LH00995:48:23YTGFLT4:8:1253:3346:8427,LH00995:48:23YTGFLT4:8:1307:11922:21234,LH00995:48:23YTGFLT4:8:1307:11930:21220,LH00995:48:23YTGFLT4:8:2118:45163:1210,LH00995:48:23YTGFLT4:8:2196:8435:3788,LH00995:48:23YTGFLT4:8:2201:19526:7137,LH00995:48:23YTGFLT4:8:2209:10554:9169,LH00995:48:23YTGFLT4:8:2231:4471:3424,LH00995:48:23YTGFLT4:8:2241:40382:9211,LH00995:48:23YTGFLT4:8:2380:24558:25381,LH00995:48:23YTGFLT4:1:1180:32438:15208,LH00995:48:23YTGFLT4:1:1225:25335:25073,LH00995:48:23YTGFLT4:1:1311:3945:7446,LH00995:48:23YTGFLT4:1:1386:12617:19973,LH00995:48:23YTGFLT4:1:1423:6436:27651,LH00995:48:23YTGFLT4:1:1443:5150:24302,LH00995:48:23YTGFLT4:1:1472:16015:21934,LH00995:48:23YTGFLT4:1:2104:27851:2247,LH00995:48:23YTGFLT4:1:2142:46053:14410,LH00995:48:23YTGFLT4:1:2253:31281:6086,LH00995:48:23YTGFLT4:1:2281:38408:15433,LH00995:48:23YTGFLT4:1:2285:32527:22425,LH00995:48:23YTGFLT4:1:2309:34574:4503,LH00995:48:23YTGFLT4:1:2341:16816:28955,LH00995:48:23YTGFLT4:1:2447:33659:8833,LH00995:48:23YTGFLT4:2:1143:50381:20645,LH00995:48:23YTGFLT4:2:1219:26184:8917,LH00995:48:23YTGFLT4:2:1219:26200:8917,LH00995:48:23YTGFLT4:2:1328:27098:25269,LH00995:48:23YTGFLT4:2:1343:36669:11187,LH00995:48:23YTGFLT4:2:1416:48650:20477,LH00995:48:23YTGFLT4:2:1416:48658:20491,LH00995:48:23YTGFLT4:2:1475:43990:29249,LH00995:48:23YTGFLT4:2:2132:31588:12588,LH00995:48:23YTGFLT4:2:2146:41126:29109,LH00995:48:23YTGFLT4:2:2154:34913:19356,LH00995:48:23YTGFLT4:2:2247:8710:27806,LH00995:48:23YTGFLT4:2:2361:20521:20799,LH00995:48:23YTGFLT4:2:2362:20489:21332,LH00995:48:23YTGFLT4:2:2424:30019:14438,LH00995:48:23YTGFLT4:2:2497:29687:12966,LH00995:48:23YTGFLT4:3:1233:24251:11733,LH00995:48:23YTGFLT4:3:1237:34735:17506,LH00995:48:23YTGFLT4:3:1361:50317:14368,LH00995:48:23YTGFLT4:3:1374:34412:1140,LH00995:48:23YTGFLT4:3:2265:12350:14606,LH00995:48:23YTGFLT4:3:2274:50859:3116,LH00995:48:23YTGFLT4:3:2333:26063:27651,LH00995:48:23YTGFLT4:3:2437:32915:29207,LH00995:48:23YTGFLT4:4:1287:42704:20996,LH00995:48:23YTGFLT4:4:1292:14219:2569,LH00995:48:23YTGFLT4:4:1386:27414:3172,LH00995:48:23YTGFLT4:4:1471:9058:9099,LH00995:48:23YTGFLT4:4:2108:42210:28464,LH00995:48:23YTGFLT4:4:2293:40382:28548,LH00995:48:23YTGFLT4:4:2307:30852:17282,LH00995:48:23YTGFLT4:4:2368:23943:4839,LH00995:48:23YTGFLT4:4:2385:27365:14270,LH00995:48:23YTGFLT4:4:2407:30990:17913,LH00995:48:23YTGFLT4:4:2474:44597:24078,LH00995:48:23YTGFLT4:4:2492:48294:14480,LH00995:48:23YTGFLT4:5:1117:37850:3284,LH00995:48:23YTGFLT4:5:1256:21589:19650,LH00995:48:23YTGFLT4:5:1263:34986:17969,LH00995:48:23YTGFLT4:5:1296:29080:5862,LH00995:48:23YTGFLT4:5:1343:32858:13443,LH00995:48:23YTGFLT4:5:1470:36596:5736,LH00995:48:23YTGFLT4:5:1484:20683:13261,LH00995:48:23YTGFLT4:5:2127:19558:5400,LH00995:48:23YTGFLT4:5:2138:45576:2261,LH00995:48:23YTGFLT4:5:2169:44573:14340,LH00995:48:23YTGFLT4:5:2201:29469:19286,LH00995:48:23YTGFLT4:5:2329:41126:8286,LH00995:48:23YTGFLT4:5:2406:12787:24835,LH00995:48:23YTGFLT4:5:2420:17496:11663,LH00995:48:23YTGFLT4:5:2431:38230:15321,LH00995:48:23YTGFLT4:5:2434:11889:7306,LH00995:48:23YTGFLT4:5:2453:26524:17380,LH00995:48:23YTGFLT4:6:1145:4034:6199,LH00995:48:23YTGFLT4:6:1203:45463:18319,LH00995:48:23YTGFLT4:6:1251:4293:16708,LH00995:48:23YTGFLT4:6:1275:16492:8328,LH00995:48:23YTGFLT4:6:1302:34355:21388,LH00995:48:23YTGFLT4:6:1352:17811:16750,LH00995:48:23YTGFLT4:6:1352:17819:16764,LH00995:48:23YTGFLT4:6:1359:29938:23714,LH00995:48:23YTGFLT4:6:1360:32049:27792,LH00995:48:23YTGFLT4:6:1382:43206:29403,LH00995:48:23YTGFLT4:6:1433:2343:18992,LH00995:48:23YTGFLT4:6:1435:46733:10318,LH00995:48:23YTGFLT4:6:2132:25060:4643,LH00995:48:23YTGFLT4:6:2176:38238:19875,LH00995:48:23YTGFLT4:6:2208:48464:2331,LH00995:48:23YTGFLT4:6:2215:45285:9800,LH00995:48:23YTGFLT4:6:2294:16444:10150,LH00995:48:23YTGFLT4:6:2297:49427:5596,LH00995:48:23YTGFLT4:6:2317:12957:27175,LH00995:48:23YTGFLT4:6:2489:35415:7390,LH00995:48:23YTGFLT4:7:1183:24453:23294,LH00995:48:23YTGFLT4:7:1302:32608:1098,LH00995:48:23YTGFLT4:7:1307:10757:13583,LH00995:48:23YTGFLT4:7:1318:47137:27525,LH00995:48:23YTGFLT4:7:1332:28870:15699,LH00995:48:23YTGFLT4:7:1359:43295:3690,LH00995:48:23YTGFLT4:7:1365:34201:3859,LH00995:48:23YTGFLT4:7:1472:14753:26138,LH00995:48:23YTGFLT4:7:2122:41523:16820,LH00995:48:23YTGFLT4:7:2134:36046:28744,LH00995:48:23YTGFLT4:7:2139:13273:20771,LH00995:48:23YTGFLT4:7:2193:7779:23364,LH00995:48:23YTGFLT4:7:2274:30626:18039,LH00995:48:23YTGFLT4:7:2274:30634:18025,LH00995:48:23YTGFLT4:7:2413:25707:10388,LH00995:48:23YTGFLT4:7:2413:6509:6086,LH00995:48:23YTGFLT4:8:1159:2092:3676,LH00995:48:23YTGFLT4:8:1173:7059:25620,LH00995:48:23YTGFLT4:8:1188:20715:27665,LH00995:48:23YTGFLT4:8:1302:3556:6493,LH00995:48:23YTGFLT4:8:1334:4034:14578,LH00995:48:23YTGFLT4:8:1341:7650:2597,LH00995:48:23YTGFLT4:8:1443:31556:21696,LH00995:48:23YTGFLT4:8:1443:44492:9043,LH00995:48:23YTGFLT4:8:1443:44500:9057,LH00995:48:23YTGFLT4:8:1443:48618:15965,LH00995:48:23YTGFLT4:8:1475:28134:20505,LH00995:48:23YTGFLT4:8:1485:19834:11201,LH00995:48:23YTGFLT4:8:2121:11048:18908,LH00995:48:23YTGFLT4:8:2145:28506:14340,LH00995:48:23YTGFLT4:8:2146:29825:10066,LH00995:48:23YTGFLT4:8:2195:15368:2093,LH00995:48:23YTGFLT4:8:2228:31313:19987,LH00995:48:23YTGFLT4:8:2228:31329:19987,LH00995:48:23YTGFLT4:8:2267:39840:22425,LH00995:48:23YTGFLT4:8:2376:50996:8987,LH00995:48:23YTGFLT4:8:2385:5870:8090,LH00995:48:23YTGFLT4:8:2472:39330:8370,LH00995:48:23YTGFLT4:8:2474:31969:15797,LH00995:48:23YTGFLT4:8:2488:8386:7123,LH00995:48:23YTGFLT4:8:2494:16962:18782

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

325

8731

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(124),mismappers(1),mismatches(2)

FPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

476

8731

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(154),mismatches(2)

KSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

NPIPA3

+/+

chr16:14726287

chr16:14726229

CDS

duplication/ITD

535

566

medium

out-of-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(100%)|

ENSG00000224712.12

ENST00000531598.6

downstream

upstream

duplicates(265)

ATCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGATAATCTCAAGA|CACCTCCCgAGTGTGTCTGCTCACTCCCCTTCCACCCTCAGC

LKTPPECLLTPLPPSAPPSVDDNLKTPPeCVCSLPFHPQRMIISR|hlpsvsahspstl

LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:4:2106:35836:2037,LH00995:48:23YTGFLT4:1:1139:44961:26699,LH00995:48:23YTGFLT4:1:1139:44961:26699,LH00995:48:23YTGFLT4:1:1139:44961:26699,LH00995:48:23YTGFLT4:1:1156:12051:7866,LH00995:48:23YTGFLT4:1:1156:12051:7866,LH00995:48:23YTGFLT4:1:1156:12051:7866,LH00995:48:23YTGFLT4:1:1156:12059:7880,LH00995:48:23YTGFLT4:1:1156:12059:7880,LH00995:48:23YTGFLT4:1:1156:12059:7880,LH00995:48:23YTGFLT4:1:2101:17051:6185,LH00995:48:23YTGFLT4:1:2101:17051:6185,LH00995:48:23YTGFLT4:1:2101:17051:6185,LH00995:48:23YTGFLT4:1:2251:42979:4685,LH00995:48:23YTGFLT4:1:2251:42979:4685,LH00995:48:23YTGFLT4:1:2251:42979:4685,LH00995:48:23YTGFLT4:1:2274:14284:15517,LH00995:48:23YTGFLT4:1:2274:14284:15517,LH00995:48:23YTGFLT4:1:2274:14284:15517,LH00995:48:23YTGFLT4:1:2309:23369:27189,LH00995:48:23YTGFLT4:1:2309:23369:27189,LH00995:48:23YTGFLT4:1:2309:23369:27189,LH00995:48:23YTGFLT4:1:2353:50365:17843,LH00995:48:23YTGFLT4:1:2353:50365:17843,LH00995:48:23YTGFLT4:1:2353:50365:17843,LH00995:48:23YTGFLT4:1:2410:27600:10220,LH00995:48:23YTGFLT4:1:2410:27600:10220,LH00995:48:23YTGFLT4:1:2410:27600:10220,LH00995:48:23YTGFLT4:1:2410:27600:10220,LH00995:48:23YTGFLT4:1:2410:27600:10220,LH00995:48:23YTGFLT4:1:2410:27600:10220,LH00995:48:23YTGFLT4:2:1205:15044:18992,LH00995:48:23YTGFLT4:2:1205:15044:18992,LH00995:48:23YTGFLT4:2:1205:15044:18992,LH00995:48:23YTGFLT4:2:1237:9446:22523,LH00995:48:23YTGFLT4:2:1237:9446:22523,LH00995:48:23YTGFLT4:2:1250:30456:17268,LH00995:48:23YTGFLT4:2:1455:1615:17703,LH00995:48:23YTGFLT4:2:1455:1615:17703,LH00995:48:23YTGFLT4:2:1455:1615:17703,LH00995:48:23YTGFLT4:2:2104:7949:29655,LH00995:48:23YTGFLT4:2:2104:7949:29655,LH00995:48:23YTGFLT4:2:2104:7949:29655,LH00995:48:23YTGFLT4:2:2247:20853:8707,LH00995:48:23YTGFLT4:2:2247:20853:8707,LH00995:48:23YTGFLT4:2:2247:20853:8707,LH00995:48:23YTGFLT4:2:2288:11606:23209,LH00995:48:23YTGFLT4:2:2288:11606:23209,LH00995:48:23YTGFLT4:2:2288:11606:23209,LH00995:48:23YTGFLT4:2:2384:35318:9632,LH00995:48:23YTGFLT4:2:2384:35318:9632,LH00995:48:23YTGFLT4:2:2384:35318:9632,LH00995:48:23YTGFLT4:2:2390:12205:25283,LH00995:48:23YTGFLT4:2:2390:12205:25283,LH00995:48:23YTGFLT4:2:2390:12205:25283,LH00995:48:23YTGFLT4:2:2390:47251:2247,LH00995:48:23YTGFLT4:2:2390:47251:2247,LH00995:48:23YTGFLT4:2:2390:47251:2247,LH00995:48:23YTGFLT4:2:2497:11533:17759,LH00995:48:23YTGFLT4:2:2497:11533:17759,LH00995:48:23YTGFLT4:2:2497:11533:17759,LH00995:48:23YTGFLT4:3:1180:32397:29487,LH00995:48:23YTGFLT4:3:1180:32397:29487,LH00995:48:23YTGFLT4:3:1180:32397:29487,LH00995:48:23YTGFLT4:3:1180:32397:29487,LH00995:48:23YTGFLT4:3:1470:23644:14186,LH00995:48:23YTGFLT4:3:1470:23644:14186,LH00995:48:23YTGFLT4:3:1470:23644:14186,LH00995:48:23YTGFLT4:3:2118:10037:9562,LH00995:48:23YTGFLT4:3:2118:10037:9562,LH00995:48:23YTGFLT4:3:2118:10037:9562,LH00995:48:23YTGFLT4:3:2205:17657:14802,LH00995:48:23YTGFLT4:3:2205:17657:14802,LH00995:48:23YTGFLT4:3:2205:17657:14802,LH00995:48:23YTGFLT4:3:2229:22050:4167,LH00995:48:23YTGFLT4:3:2229:22050:4167,LH00995:48:23YTGFLT4:3:2229:22050:4167,LH00995:48:23YTGFLT4:4:1171:25157:23504,LH00995:48:23YTGFLT4:4:1171:25157:23504,LH00995:48:23YTGFLT4:4:1171:25157:23504,LH00995:48:23YTGFLT4:4:1266:48820:14298,LH00995:48:23YTGFLT4:4:1266:48820:14298,LH00995:48:23YTGFLT4:4:1266:48820:14298,LH00995:48:23YTGFLT4:4:2189:14696:21640,LH00995:48:23YTGFLT4:4:2189:14696:21640,LH00995:48:23YTGFLT4:4:2189:14696:21640,LH00995:48:23YTGFLT4:4:2189:40835:7530,LH00995:48:23YTGFLT4:4:2189:40835:7530,LH00995:48:23YTGFLT4:4:2189:40835:7530,LH00995:48:23YTGFLT4:4:2268:6153:22649,LH00995:48:23YTGFLT4:4:2268:6153:22649,LH00995:48:23YTGFLT4:4:2268:6153:22649,LH00995:48:23YTGFLT4:4:2282:24655:5960,LH00995:48:23YTGFLT4:4:2282:24655:5960,LH00995:48:23YTGFLT4:4:2282:24655:5960,LH00995:48:23YTGFLT4:4:2282:24655:5960,LH00995:48:23YTGFLT4:4:2301:3920:3172,LH00995:48:23YTGFLT4:4:2301:3920:3172,LH00995:48:23YTGFLT4:4:2301:3920:3172,LH00995:48:23YTGFLT4:4:2301:44953:22817,LH00995:48:23YTGFLT4:4:2301:44953:22817,LH00995:48:23YTGFLT4:4:2301:44953:22817,LH00995:48:23YTGFLT4:4:2359:2731:26082,LH00995:48:23YTGFLT4:4:2359:2731:26082,LH00995:48:23YTGFLT4:4:2359:2731:26082,LH00995:48:23YTGFLT4:4:2431:8443:18515,LH00995:48:23YTGFLT4:4:2431:8443:18515,LH00995:48:23YTGFLT4:4:2431:8443:18515,LH00995:48:23YTGFLT4:4:2449:19550:24190,LH00995:48:23YTGFLT4:4:2449:19550:24190,LH00995:48:23YTGFLT4:4:2449:19550:24190,LH00995:48:23YTGFLT4:5:1192:16703:11916,LH00995:48:23YTGFLT4:5:1192:16703:11916,LH00995:48:23YTGFLT4:5:1192:16703:11916,LH00995:48:23YTGFLT4:5:1207:31653:25227,LH00995:48:23YTGFLT4:5:1207:31653:25227,LH00995:48:23YTGFLT4:5:1207:31653:25227,LH00995:48:23YTGFLT4:5:1207:50276:10094,LH00995:48:23YTGFLT4:5:1207:50276:10094,LH00995:48:23YTGFLT4:5:1207:50276:10094,LH00995:48:23YTGFLT4:5:1356:24040:3999,LH00995:48:23YTGFLT4:5:1356:24040:3999,LH00995:48:23YTGFLT4:5:1356:24040:3999,LH00995:48:23YTGFLT4:5:1382:51991:24527,LH00995:48:23YTGFLT4:5:1382:51991:24527,LH00995:48:23YTGFLT4:5:1382:51991:24527,LH00995:48:23YTGFLT4:5:1391:24534:25423,LH00995:48:23YTGFLT4:5:1391:24534:25423,LH00995:48:23YTGFLT4:5:1391:24534:25423,LH00995:48:23YTGFLT4:5:1394:42769:25087,LH00995:48:23YTGFLT4:5:1394:42769:25087,LH00995:48:23YTGFLT4:5:1394:42769:25087,LH00995:48:23YTGFLT4:5:1394:42777:25073,LH00995:48:23YTGFLT4:5:1394:42777:25073,LH00995:48:23YTGFLT4:5:1394:42777:25073,LH00995:48:23YTGFLT4:5:1471:6436:5456,LH00995:48:23YTGFLT4:5:1471:6436:5456,LH00995:48:23YTGFLT4:5:1471:6436:5456,LH00995:48:23YTGFLT4:5:2106:27551:11677,LH00995:48:23YTGFLT4:5:2106:27551:11677,LH00995:48:23YTGFLT4:5:2106:27551:11677,LH00995:48:23YTGFLT4:5:2130:8815:21290,LH00995:48:23YTGFLT4:5:2130:8815:21290,LH00995:48:23YTGFLT4:5:2130:8815:21290,LH00995:48:23YTGFLT4:5:2197:32316:7684,LH00995:48:23YTGFLT4:5:2197:32316:7684,LH00995:48:23YTGFLT4:5:2197:32316:7684,LH00995:48:23YTGFLT4:5:2201:34808:20631,LH00995:48:23YTGFLT4:5:2201:34808:20631,LH00995:48:23YTGFLT4:5:2220:32956:9043,LH00995:48:23YTGFLT4:5:2220:32956:9043,LH00995:48:23YTGFLT4:5:2232:46870:19973,LH00995:48:23YTGFLT4:5:2232:46870:19973,LH00995:48:23YTGFLT4:5:2232:46870:19973,LH00995:48:23YTGFLT4:5:2251:17496:26909,LH00995:48:23YTGFLT4:5:2251:17496:26909,LH00995:48:23YTGFLT4:5:2251:17496:26909,LH00995:48:23YTGFLT4:5:2251:17496:26909,LH00995:48:23YTGFLT4:5:2397:39670:29221,LH00995:48:23YTGFLT4:5:2397:39670:29221,LH00995:48:23YTGFLT4:5:2434:41701:5834,LH00995:48:23YTGFLT4:5:2434:41701:5834,LH00995:48:23YTGFLT4:5:2434:41701:5834,LH00995:48:23YTGFLT4:5:2460:18960:8370,LH00995:48:23YTGFLT4:5:2460:18960:8370,LH00995:48:23YTGFLT4:5:2460:18960:8370,LH00995:48:23YTGFLT4:6:1205:40560:18039,LH00995:48:23YTGFLT4:6:1205:40560:18039,LH00995:48:23YTGFLT4:6:1205:40560:18039,LH00995:48:23YTGFLT4:6:1285:1437:3915,LH00995:48:23YTGFLT4:6:1285:1437:3915,LH00995:48:23YTGFLT4:6:1285:1437:3915,LH00995:48:23YTGFLT4:6:1293:17212:16161,LH00995:48:23YTGFLT4:6:1293:17212:16161,LH00995:48:23YTGFLT4:6:1293:17212:16161,LH00995:48:23YTGFLT4:6:1428:48529:27974,LH00995:48:23YTGFLT4:6:1428:48529:27974,LH00995:48:23YTGFLT4:6:1428:48529:27974,LH00995:48:23YTGFLT4:6:1437:1987:8987,LH00995:48:23YTGFLT4:6:1437:1987:8987,LH00995:48:23YTGFLT4:6:1437:1987:8987,LH00995:48:23YTGFLT4:6:1480:37203:9982,LH00995:48:23YTGFLT4:6:1480:37203:9982,LH00995:48:23YTGFLT4:6:1480:37203:9982,LH00995:48:23YTGFLT4:6:2195:49621:17254,LH00995:48:23YTGFLT4:6:2195:49621:17254,LH00995:48:23YTGFLT4:6:2195:49621:17254,LH00995:48:23YTGFLT4:6:2388:15441:23294,LH00995:48:23YTGFLT4:6:2388:15441:23294,LH00995:48:23YTGFLT4:6:2388:15441:23294,LH00995:48:23YTGFLT4:6:2392:3694:1350,LH00995:48:23YTGFLT4:6:2392:3694:1350,LH00995:48:23YTGFLT4:6:2392:3694:1350,LH00995:48:23YTGFLT4:6:2486:9948:23896,LH00995:48:23YTGFLT4:6:2486:9948:23896,LH00995:48:23YTGFLT4:6:2486:9948:23896,LH00995:48:23YTGFLT4:7:1143:36248:2583,LH00995:48:23YTGFLT4:7:1143:36248:2583,LH00995:48:23YTGFLT4:7:1143:36248:2583,LH00995:48:23YTGFLT4:7:1143:36248:2583,LH00995:48:23YTGFLT4:7:1143:36248:2583,LH00995:48:23YTGFLT4:7:1143:36248:2583,LH00995:48:23YTGFLT4:7:1277:36790:22607,LH00995:48:23YTGFLT4:7:1277:36790:22607,LH00995:48:23YTGFLT4:7:1277:36790:22607,LH00995:48:23YTGFLT4:7:1325:16250:16652,LH00995:48:23YTGFLT4:7:1325:16250:16652,LH00995:48:23YTGFLT4:7:1325:16250:16652,LH00995:48:23YTGFLT4:7:2113:7367:4013,LH00995:48:23YTGFLT4:7:2113:7367:4013,LH00995:48:23YTGFLT4:7:2113:7367:4013,LH00995:48:23YTGFLT4:7:2181:10627:24541,LH00995:48:23YTGFLT4:7:2181:10627:24541,LH00995:48:23YTGFLT4:7:2181:10627:24541,LH00995:48:23YTGFLT4:7:2215:48618:11453,LH00995:48:23YTGFLT4:7:2215:48618:11453,LH00995:48:23YTGFLT4:7:2215:48618:11453,LH00995:48:23YTGFLT4:7:2329:1493:7908,LH00995:48:23YTGFLT4:7:2329:1493:7908,LH00995:48:23YTGFLT4:7:2329:1493:7908,LH00995:48:23YTGFLT4:7:2356:42655:8945,LH00995:48:23YTGFLT4:7:2356:42655:8945,LH00995:48:23YTGFLT4:7:2356:42655:8945,LH00995:48:23YTGFLT4:7:2455:48302:20883,LH00995:48:23YTGFLT4:7:2455:48302:20883,LH00995:48:23YTGFLT4:7:2455:48302:20883,LH00995:48:23YTGFLT4:8:1155:11080:22383,LH00995:48:23YTGFLT4:8:1155:11080:22383,LH00995:48:23YTGFLT4:8:1155:11080:22383,LH00995:48:23YTGFLT4:8:1177:4673:8483,LH00995:48:23YTGFLT4:8:1177:4673:8483,LH00995:48:23YTGFLT4:8:1177:4673:8483,LH00995:48:23YTGFLT4:8:1221:27147:23195,LH00995:48:23YTGFLT4:8:1221:27147:23195,LH00995:48:23YTGFLT4:8:1221:27147:23195,LH00995:48:23YTGFLT4:8:1337:37081:14480,LH00995:48:23YTGFLT4:8:1337:37081:14480,LH00995:48:23YTGFLT4:8:1337:37081:14480,LH00995:48:23YTGFLT4:8:1359:29873:24611,LH00995:48:23YTGFLT4:8:1359:29873:24611,LH00995:48:23YTGFLT4:8:13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RADIL

-/-

chr7:4803583

chr7:4803591

CDS

duplication/ITD

182

185

medium

in-frame

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

ENSG00000157927.17

ENST00000399583.4

upstream

downstream

duplicates(97),low_entropy(1)

GCGACGGCTTCCAGGTGGACTTGGAAGCCAACTGCCTGGACGACAGCATCTACCAGCACCTGCTCTACGTCCGCCACTTTCTGTGGGGTCTGCGGAGCAGAGCCAGCCCCGGCAGCCCTGGCAG|CCCTGGCAGGCCTGGCAGTGGGGCCTCCCAGCCAGTGTGCCCCGAG___GGTATGCACCACGTGGTCCTTGACGGGCACCTGGAGGCCCCGAGCTGCCCCCTGGCTCCCAGGGACCCTGGCCC

DGFQVDLEANCLDDSIYQHLLYVRHFLWGLRSRASPGSPGs|PGRPGSGASQPVCPEGMHHVVLDGHLEAPSCPLAPRDPG

LH00995:48:23YTGFLT4:1:1475:32171:6675,LH00995:48:23YTGFLT4:2:1148:26864:8665,LH00995:48:23YTGFLT4:2:1331:39233:21290,LH00995:48:23YTGFLT4:2:2260:43424:22355,LH00995:48:23YTGFLT4:3:1314:47056:18613,LH00995:48:23YTGFLT4:4:1127:17204:18333,LH00995:48:23YTGFLT4:4:2275:37429:5862,LH00995:48:23YTGFLT4:4:2275:37437:5876,LH00995:48:23YTGFLT4:5:1297:24671:22215,LH00995:48:23YTGFLT4:6:1227:8920:14746,LH00995:48:23YTGFLT4:6:1323:38991:2625,LH00995:48:23YTGFLT4:6:2269:41013:27287,LH00995:48:23YTGFLT4:7:2460:3249:27960,LH00995:48:23YTGFLT4:7:2465:18240:1603,LH00995:48:23YTGFLT4:8:1267:28393:3943,LH00995:48:23YTGFLT4:8:1295:39978:19748,LH00995:48:23YTGFLT4:8:1295:39978:19748,LH00995:48:23YTGFLT4:1:1357:12658:3536,LH00995:48:23YTGFLT4:1:1357:12658:3536,LH00995:48:23YTGFLT4:1:1428:20189:27175,LH00995:48:23YTGFLT4:1:1428:20189:27175,LH00995:48:23YTGFLT4:1:1475:32171:6675,LH00995:48:23YTGFLT4:1:2126:48626:15447,LH00995:48:23YTGFLT4:1:2126:48626:15447,LH00995:48:23YTGFLT4:2:1148:26864:8665,LH00995:48:23YTGFLT4:2:1178:2408:5764,LH00995:48:23YTGFLT4:2:1178:2408:5764,LH00995:48:23YTGFLT4:2:1331:39233:21290,LH00995:48:23YTGFLT4:2:2260:43424:22355,LH00995:48:23YTGFLT4:2:2325:22163:13555,LH00995:48:23YTGFLT4:2:2325:22163:13555,LH00995:48:23YTGFLT4:2:2391:8451:13121,LH00995:48:23YTGFLT4:2:2391:8451:13121,LH00995:48:23YTGFLT4:2:2414:51287:25269,LH00995:48:23YTGFLT4:2:2414:51287:25269,LH00995:48:23YTGFLT4:3:1187:11800:20939,LH00995:48:23YTGFLT4:3:1187:11800:20939,LH00995:48:23YTGFLT4:3:1314:47056:18613,LH00995:48:23YTGFLT4:3:1397:45139:1785,LH00995:48:23YTGFLT4:3:1397:45139:1785,LH00995:48:23YTGFLT4:3:2269:3848:1280,LH00995:48:23YTGFLT4:3:2269:3848:1280,LH00995:48:23YTGFLT4:3:2282:51571:9141,LH00995:48:23YTGFLT4:3:2282:51571:9141,LH00995:48:23YTGFLT4:3:2415:44848:10640,LH00995:48:23YTGFLT4:3:2415:44848:10640,LH00995:48:23YTGFLT4:3:2415:44848:10640,LH00995:48:23YTGFLT4:3:2415:44848:10640,LH00995:48:23YTGFLT4:4:1127:17204:18333,LH00995:48:23YTGFLT4:4:1211:2610:26937,LH00995:48:23YTGFLT4:4:1211:2610:26937,LH00995:48:23YTGFLT4:4:1445:4851:16498,LH00995:48:23YTGFLT4:4:1445:4851:16498,LH00995:48:23YTGFLT4:4:1489:6161:19216,LH00995:48:23YTGFLT4:4:1489:6161:19216,LH00995:48:23YTGFLT4:4:2129:2351:12364,LH00995:48:23YTGFLT4:4:2129:2351:12364,LH00995:48:23YTGFLT4:4:2180:15384:11846,LH00995:48:23YTGFLT4:4:2180:15384:11846,LH00995:48:23YTGFLT4:4:2275:37429:5862,LH00995:48:23YTGFLT4:4:2275:37437:5876,LH00995:48:23YTGFLT4:4:2280:22139:29039,LH00995:48:23YTGFLT4:4:2280:22139:29039,LH00995:48:23YTGFLT4:5:1103:48205:8356,LH00995:48:23YTGFLT4:5:1103:48205:8356,LH00995:48:23YTGFLT4:5:1260:52064:20617,LH00995:48:23YTGFLT4:5:1260:52064:20617,LH00995:48:23YTGFLT4:5:1269:5725:1392,LH00995:48:23YTGFLT4:5:1269:5725:1392,LH00995:48:23YTGFLT4:5:1269:5725:1392,LH00995:48:23YTGFLT4:5:1269:5725:1392,LH00995:48:23YTGFLT4:5:1269:5725:1392,LH00995:48:23YTGFLT4:5:1269:5725:1392,LH00995:48:23YTGFLT4:5:1269:5725:1392,LH00995:48:23YTGFLT4:5:1269:5725:1392,LH00995:48:23YTGFLT4:5:1297:24671:22215,LH00995:48:23YTGFLT4:5:1355:5110:13275,LH00995:48:23YTGFLT4:5:1355:5110:13275,LH00995:48:23YTGFLT4:5:1355:5110:13275,LH00995:48:23YTGFLT4:5:1355:5110:13275,LH00995:48:23YTGFLT4:5:1355:5126:13275,LH00995:48:23YTGFLT4:5:1355:5126:13275,LH00995:48:23YTGFLT4:5:1355:5126:13275,LH00995:48:23YTGFLT4:5:1355:5126:13275,LH00995:48:23YTGFLT4:5:2213:25351:15293,LH00995:48:23YTGFLT4:5:2213:25351:15293,LH00995:48:23YTGFLT4:5:2261:46628:12182,LH00995:48:23YTGFLT4:5:2261:46628:12182,LH00995:48:23YTGFLT4:5:2387:36831:3788,LH00995:48:23YTGFLT4:5:2387:36831:3788,LH00995:48:23YTGFLT4:5:2424:1121:7656,LH00995:48:23YTGFLT4:5:2424:1121:7656,LH00995:48:23YTGFLT4:5:2464:50576:20897,LH00995:48:23YTGFLT4:5:2464:50576:20897,LH00995:48:23YTGFLT4:5:2485:20950:29221,LH00995:48:23YTGFLT4:5:2485:20950:29221,LH00995:48:23YTGFLT4:6:1106:24704:23728,LH00995:48:23YTGFLT4:6:1106:24704:23728,LH00995:48:23YTGFLT4:6:1106:24712:23714,LH00995:48:23YTGFLT4:6:1106:24712:23714,LH00995:48:23YTGFLT4:6:1138:1574:11271,LH00995:48:23YTGFLT4:6:1138:1574:11271,LH00995:48:23YTGFLT4:6:1227:8920:14746,LH00995:48:23YTGFLT4:6:1305:1388:4279,LH00995:48:23YTGFLT4:6:1305:1388:4279,LH00995:48:23YTGFLT4:6:1323:38991:2625,LH00995:48:23YTGFLT4:6:1340:38554:5064,LH00995:48:23YTGFLT4:6:1340:38554:5064,LH00995:48:23YTGFLT4:6:1351:48553:25073,LH00995:48:23YTGFLT4:6:1351:48553:25073,LH00995:48:23YTGFLT4:6:2118:24113:7796,LH00995:48:23YTGFLT4:6:2118:24113:7796,LH00995:48:23YTGFLT4:6:2269:41013:27287,LH00995:48:23YTGFLT4:7:1269:10360:21052,LH00995:48:23YTGFLT4:7:1269:10360:21052,LH00995:48:23YTGFLT4:7:1269:10376:21052,LH00995:48:23YTGFLT4:7:1269:10376:21052,LH00995:48:23YTGFLT4:7:1424:7156:28030,LH00995:48:23YTGFLT4:7:1424:7156:28030,LH00995:48:23YTGFLT4:7:2131:21694:1897,LH00995:48:23YTGFLT4:7:2131:21694:1897,LH00995:48:23YTGFLT4:7:2154:8095:11215,LH00995:48:23YTGFLT4:7:2154:8095:11215,LH00995:48:23YTGFLT4:7:2460:3249:27960,LH00995:48:23YTGFLT4:7:2463:22026:6479,LH00995:48:23YTGFLT4:7:2463:22026:6479,LH00995:48:23YTGFLT4:7:2465:18240:1603,LH00995:48:23YTGFLT4:8:1267:28393:3943,LH00995:48:23YTGFLT4:8:1376:9171:5792,LH00995:48:23YTGFLT4:8:1376:9171:5792,LH00995:48:23YTGFLT4:8:1456:35690:16834,LH00995:48:23YTGFLT4:8:1456:35690:16834,LH00995:48:23YTGFLT4:8:1490:27058:21780,LH00995:48:23YTGFLT4:8:1490:27058:21780,LH00995:48:23YTGFLT4:8:2476:40131:12616,LH00995:48:23YTGFLT4:8:2476:40131:12616,LH00995:48:23YTGFLT4:8:2487:20942:21640,LH00995:48:23YTGFLT4:8:2487:20942:21640

EPPK1

-/-

chr8:143871575

chr8:143871586

CDS

duplication/ITD

412

615

medium

in-frame

Plectin_repeat(11%)|Plectin_repeat(88%)

ENSG00000261150.3

ENST00000615648.2

upstream

downstream

duplicates(162)

CCTGAGCACGGCCACAGCCACCGTCTCTGTGGGGAAGTTCCGGGGCCGGCCCGTGTCCCTCTGGGAGCTGCTCTTCTCTGAGGCCATCTCCTCAGAGCAGAGGGCGATGCTGGCCCAGCAGTACCAGGAAGGGACCCTCTCCGTGGAGAAGCTGGCCGCTgAGCTGAGCGCCACCCTCGAGCAGGCTGCAGCCACTGCCAGGGTCACCTT|CAGGGTCACCTTTTCTGGGCTGAGGGACACCGTGACACCAGGAGAGCTGCTGAAAGCCGAGATCATCGACCAGGACCTGTACGAGCGGCTGGAGCATGGACAGGC

LSTATATVSVGKFRGRPVSLWELLFSEAISSEQRAMLAQQYQEGTLSVEKLAAeLSATLEQAAATARVTf|RVTFSGLRDTVTPGELLKAEIIDQDLYERLEHGQ

LH00995:48:23YTGFLT4:1:1165:50867:5484,LH00995:48:23YTGFLT4:1:1208:18369:6563,LH00995:48:23YTGFLT4:1:1238:4624:1336,LH00995:48:23YTGFLT4:2:1145:44370:1182,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:2:1404:46684:17128,LH00995:48:23YTGFLT4:3:1128:22002:5008,LH00995:48:23YTGFLT4:3:1483:49807:21360,LH00995:48:23YTGFLT4:4:1106:7593:13625,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:1262:17714:10248,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:4:2253:12375:22943,LH00995:48:23YTGFLT4:5:1150:50673:5596,LH00995:48:23YTGFLT4:5:1256:25602:13989,LH00995:48:23YTGFLT4:5:1326:15602:4125,LH00995:48:23YTGFLT4:5:1334:20003:23097,LH00995:48:23YTGFLT4:5:1334:20012:23111,LH00995:48:23YTGFLT4:5:1496:5749:28394,LH00995:48:23YTGFLT4:5:2236:51263:4097,LH00995:48:23YTGFLT4:5:2355:27212:10753,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1229:15910:7348,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1440:52048:27007,LH00995:48:23YTGFLT4:6:1448:13588:22719,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2452:14963:5792,LH00995:48:23YTGFLT4:6:2471:41547:3186,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10433:10753,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10739,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:1433:10441:10767,LH00995:48:23YTGFLT4:7:2181:31394:7992,LH00995:48:23YTGFLT4:8:1105:14834:2681,LH00995:48:23YTGFLT4:8:1437:42308:12182,LH00995:48:23YTGFLT4:8:2243:19291:13233,LH00995:48:23YTGFLT4:2:1372:7100:15040,LH00995:48:23YTGFLT4:3:1147:6534:20869,LH00995:48:23YTGFLT4:3:2305:37753:13261,LH00995:48:23YTGFLT4:5:1352:15465:5008,LH00995:48:23YTGFLT4:5:1474:46959:10823,LH00995:48:23YTGFLT4:5:2142:20044:5428,LH00995:48:23YTGFLT4:5:2378:38214:19104,LH00995:48:23YTGFLT4:6:1226:8232:15685,LH00995:48:23YTGFLT4:7:2272:26508:21500,LH00995:48:23YTGFLT4:7:2490:20634:24134,LH00995:48:23YTGFLT4:8:1219:26443:21528,LH00995:48:23YTGFLT4:8:2361:13030:4293,LH00995:48:23YTGFLT4:2:1315:33190:5554,LH00995:48:23YTGFLT4:2:1315:33198:5540,LH00995:48:23YTGFLT4:2:1334:14073:3606,LH00995:48:23YTGFLT4:2:1334:14073:3606,LH00995:48:23YTGFLT4:2:1334:14073:3606,LH00995:48:23YTGFLT4:2:1334:14073:3606,LH00995:48:23YTGFLT4:2:1417:29808:1771,LH00995:48:23YTGFLT4:2:1417:29808:1771,LH00995:48:23YTGFLT4:2:2245:13281:17114,LH00995:48:23YTGFLT4:2:2245:13281:17114,LH00995:48:23YTGFLT4:2:2305:6315:13653,LH00995:48:23YTGFLT4:2:2305:6315:13653,LH00995:48:23YTGFLT4:3:2109:1510:25339,LH00995:48:23YTGFLT4:3:2109:1510:25339,LH00995:48:23YTGFLT4:3:2347:16929:24611,LH00995:48:23YTGFLT4:3:2347:16929:24611,LH00995:48:23YTGFLT4:3:2386:29542:1420,LH00995:48:23YTGFLT4:3:2386:29542:1420,LH00995:48:23YTGFLT4:4:1315:42566:4307,LH00995:48:23YTGFLT4:4:1315:42566:4307,LH00995:48:23YTGFLT4:4:2119:17924:18992,LH00995:48:23YTGFLT4:4:2119:17924:18992,LH00995:48:23YTGFLT4:4:2430:22819:14522,LH00995:48:23YTGFLT4:4:2430:22819:14522,LH00995:48:23YTGFLT4:4:2430:22827:14536,LH00995:48:23YTGFLT4:4:2430:22827:14536,LH00995:48:23YTGFLT4:5:1117:12553:29361,LH00995:48:23YTGFLT4:5:1117:12553:29361,LH00995:48:23YTGFLT4:5:1144:11412:23910,LH00995:48:23YTGFLT4:5:1144:11412:23910,LH00995:48:23YTGFLT4:5:1144:11428:23910,LH00995:48:23YTGFLT4:5:1144:11428:23910,LH00995:48:23YTGFLT4:5:1424:26864:4685,LH00995:48:23YTGFLT4:5:1424:26864:4685,LH00995:48:23YTGFLT4:6:1351:5757:2990,LH00995:48:23YTGFLT4:6:1351:5757:2990,LH00995:48:23YTGFLT4:6:1482:49322:12112,LH00995:48:23YTGFLT4:6:2150:29420:11944,LH00995:48:23YTGFLT4:6:2150:29420:11944,LH00995:48:23YTGFLT4:6:2186:29485:3873,LH00995:48:23YTGFLT4:6:2186:29485:3873,LH00995:48:23YTGFLT4:6:2210:5555:26544,LH00995:48:23YTGFLT4:6:2210:5555:26544,LH00995:48:23YTGFLT4:7:1135:1364:16960,LH00995:48:23YTGFLT4:7:1135:1364:16960,LH00995:48:23YTGFLT4:7:1167:2942:23672,LH00995:48:23YTGFLT4:7:1167:2942:23672,LH00995:48:23YTGFLT4:7:1398:4503:12868,LH00995:48:23YTGFLT4:7:2238:11566:6661,LH00995:48:23YTGFLT4:7:2238:11566:6661,LH00995:48:23YTGFLT4:7:2422:1558:8497,LH00995:48:23YTGFLT4:7:2422:1558:8497,LH00995:48:23YTGFLT4:8:1209:39144:7544,LH00995:48:23YTGFLT4:8:1209:39144:7544,LH00995:48:23YTGFLT4:8:1210:25488:20239,LH00995:48:23YTGFLT4:8:1210:25488:20239,LH00995:48:23YTGFLT4:8:1210:25488:20239,LH00995:48:23YTGFLT4:8:1210:25488:20239,LH00995:48:23YTGFLT4:8:1218:32616:22999,LH00995:48:23YTGFLT4:8:1218:32616:22999,LH00995:48:23YTGFLT4:8:1416:9284:12546,LH00995:48:23YTGFLT4:8:1416:9284:12546

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

TGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTG

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:48:23YTGFLT4:1:1205:51012:9043,LH00995:48:23YTGFLT4:1:1343:11477:23013,LH00995:48:23YTGFLT4:1:1401:50187:8791,LH00995:48:23YTGFLT4:1:1477:34031:22761,LH00995:48:23YTGFLT4:1:2179:27616:15180,LH00995:48:23YTGFLT4:1:2314:51546:10640,LH00995:48:23YTGFLT4:2:1128:41062:15853,LH00995:48:23YTGFLT4:2:1153:28846:4895,LH00995:48:23YTGFLT4:2:1243:30634:6619,LH00995:48:23YTGFLT4:2:1405:31596:24765,LH00995:48:23YTGFLT4:2:1429:37017:20365,LH00995:48:23YTGFLT4:2:1429:37025:20351,LH00995:48:23YTGFLT4:2:1490:43230:16694,LH00995:48:23YTGFLT4:2:2355:23903:2695,LH00995:48:23YTGFLT4:2:2483:14106:24344,LH00995:48:23YTGFLT4:3:1240:45317:27511,LH00995:48:23YTGFLT4:3:1437:7132:5960,LH00995:48:23YTGFLT4:3:2417:9575:11677,LH00995:48:23YTGFLT4:3:2490:31022:10290,LH00995:48:23YTGFLT4:4:1117:22058:5554,LH00995:48:23YTGFLT4:4:1117:22074:5554,LH00995:48:23YTGFLT4:4:1198:25529:13807,LH00995:48:23YTGFLT4:4:1198:25545:13807,LH00995:48:23YTGFLT4:4:1427:14769:28044,LH00995:48:23YTGFLT4:4:2263:18450:8945,LH00995:48:23YTGFLT4:4:2353:14405:25255,LH00995:48:23YTGFLT4:5:1103:10530:22551,LH00995:48:23YTGFLT4:5:1141:21646:10304,LH00995:48:23YTGFLT4:5:1187:27802:18894,LH00995:48:23YTGFLT4:5:1210:50325:10542,LH00995:48:23YTGFLT4:5:2160:22592:9113,LH00995:48:23YTGFLT4:5:2297:39339:13793,LH00995:48:23YTGFLT4:5:2313:39387:29459,LH00995:48:23YTGFLT4:5:2380:5393:5890,LH00995:48:23YTGFLT4:5:2432:19065:26068,LH00995:48:23YTGFLT4:5:2463:16711:28324,LH00995:48:23YTGFLT4:5:2463:7108:8272,LH00995:48:23YTGFLT4:5:2473:19510:20645,LH00995:48:23YTGFLT4:6:2378:15004:3452,LH00995:48:23YTGFLT4:7:1101:21241:2317,LH00995:48:23YTGFLT4:7:1157:2909:23420,LH00995:48:23YTGFLT4:7:1306:47509:13961,LH00995:48:23YTGFLT4:7:1450:30164:24835,LH00995:48:23YTGFLT4:7:2149:10716:24807,LH00995:48:23YTGFLT4:7:2152:12116:22579,LH00995:48:23YTGFLT4:7:2302:30706:15741,LH00995:48:23YTGFLT4:7:2373:19793:2724,LH00995:48:23YTGFLT4:7:2438:13976:8314,LH00995:48:23YTGFLT4:7:2496:8111:18529,LH00995:48:23YTGFLT4:8:1131:29914:20113,LH00995:48:23YTGFLT4:8:1263:20117:19258,LH00995:48:23YTGFLT4:8:1279:20068:2023,LH00995:48:23YTGFLT4:8:1379:34064:27581,LH00995:48:23YTGFLT4:8:1379:34080:27581,LH00995:48:23YTGFLT4:8:1393:39136:16273,LH00995:48:23YTGFLT4:8:2159:41321:9183,LH00995:48:23YTGFLT4:8:2170:41321:13079,LH00995:48:23YTGFLT4:8:2404:31006:5526,LH00995:48:23YTGFLT4:8:2458:12002:14928,LH00995:48:23YTGFLT4:1:1156:41046:3382,LH00995:48:23YTGFLT4:1:1210:49758:14326,LH00995:48:23YTGFLT4:1:1354:46733:25255,LH00995:48:23YTGFLT4:1:2497:42008:1518,LH00995:48:23YTGFLT4:2:1383:13515:18838,LH00995:48:23YTGFLT4:2:2166:34266:19945,LH00995:48:23YTGFLT4:2:2326:17819:1715,LH00995:48:23YTGFLT4:3:1343:28053:29557,LH00995:48:23YTGFLT4:3:1343:28069:29557,LH00995:48:23YTGFLT4:3:1384:22083:15208,LH00995:48:23YTGFLT4:3:2402:8783:7978,LH00995:48:23YTGFLT4:4:2262:39209:7908,LH00995:48:23YTGFLT4:5:1359:15392:11103,LH00995:48:23YTGFLT4:5:2129:29849:17731,LH00995:48:23YTGFLT4:5:2298:41636:5498,LH00995:48:23YTGFLT4:5:2402:6687:27133,LH00995:48:23YTGFLT4:6:1125:46959:22537,LH00995:48:23YTGFLT4:6:1224:35706:11089,LH00995:48:23YTGFLT4:6:2158:28433:10010,LH00995:48:23YTGFLT4:7:1169:50430:19608,LH00995:48:23YTGFLT4:7:2247:12091:9421,LH00995:48:23YTGFLT4:7:2325:39986:22341,LH00995:48:23YTGFLT4:7:2471:28449:17408,LH00995:48:23YTGFLT4:8:1308:29485:7740,LH00995:48:23YTGFLT4:8:1441:6679:9519,LH00995:48:23YTGFLT4:8:1456:29420:14017,LH00995:48:23YTGFLT4:8:1456:29428:14031,LH00995:48:23YTGFLT4:8:2108:13758:10402,LH00995:48:23YTGFLT4:8:2143:7043:10626,LH00995:48:23YTGFLT4:8:2308:34622:11229

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

177

8731

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(62),mismappers(1)

ADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

CCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCT

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

LH00995:48:23YTGFLT4:1:1182:42841:12294,LH00995:48:23YTGFLT4:1:1313:15125:21290,LH00995:48:23YTGFLT4:1:1422:39444:28408,LH00995:48:23YTGFLT4:1:2117:34104:21290,LH00995:48:23YTGFLT4:2:1202:45123:23308,LH00995:48:23YTGFLT4:2:1227:10587:4965,LH00995:48:23YTGFLT4:2:1248:4899:24288,LH00995:48:23YTGFLT4:2:1328:37025:26264,LH00995:48:23YTGFLT4:2:1383:33740:16876,LH00995:48:23YTGFLT4:2:1474:45123:27063,LH00995:48:23YTGFLT4:2:2415:8241:4125,LH00995:48:23YTGFLT4:2:2430:49734:27792,LH00995:48:23YTGFLT4:2:2433:21476:22060,LH00995:48:23YTGFLT4:3:1117:43731:5428,LH00995:48:23YTGFLT4:3:1326:48804:15503,LH00995:48:23YTGFLT4:3:1495:33465:19762,LH00995:48:23YTGFLT4:3:2217:5231:11187,LH00995:48:23YTGFLT4:3:2220:52096:3943,LH00995:48:23YTGFLT4:4:1127:33004:10052,LH00995:48:23YTGFLT4:4:1180:30609:24457,LH00995:48:23YTGFLT4:4:1325:5992:25059,LH00995:48:23YTGFLT4:4:1420:46967:8427,LH00995:48:23YTGFLT4:4:2180:28190:22649,LH00995:48:23YTGFLT4:4:2341:46984:6072,LH00995:48:23YTGFLT4:4:2418:22794:17927,LH00995:48:23YTGFLT4:5:1321:7666:3943,LH00995:48:23YTGFLT4:5:1329:28838:14466,LH00995:48:23YTGFLT4:5:1353:22625:12252,LH00995:48:23YTGFLT4:5:2109:20125:14340,LH00995:48:23YTGFLT4:5:2123:25982:20113,LH00995:48:23YTGFLT4:5:2238:7197:4587,LH00995:48:23YTGFLT4:5:2405:31499:12294,LH00995:48:23YTGFLT4:6:1261:43934:1771,LH00995:48:23YTGFLT4:6:1321:38141:16259,LH00995:48:23YTGFLT4:6:1328:43553:12322,LH00995:48:23YTGFLT4:6:1436:10166:19650,LH00995:48:23YTGFLT4:6:2227:12391:25634,LH00995:48:23YTGFLT4:6:2316:6752:11551,LH00995:48:23YTGFLT4:6:2403:47518:12434,LH00995:48:23YTGFLT4:6:2425:26532:17955,LH00995:48:23YTGFLT4:7:2111:37543:7432,LH00995:48:23YTGFLT4:7:2274:40779:20771,LH00995:48:23YTGFLT4:7:2323:9292:5582,LH00995:48:23YTGFLT4:7:2483:13038:3718,LH00995:48:23YTGFLT4:8:1193:44015:29011,LH00995:48:23YTGFLT4:8:1310:11436:11593,LH00995:48:23YTGFLT4:8:2377:30666:23574,LH00995:48:23YTGFLT4:8:2377:30682:23574,LH00995:48:23YTGFLT4:8:2377:7068:6857,LH00995:48:23YTGFLT4:8:2453:50656:23504,LH00995:48:23YTGFLT4:1:1254:25035:28450,LH00995:48:23YTGFLT4:1:1403:36847:26292,LH00995:48:23YTGFLT4:1:1435:12868:1182,LH00995:48:23YTGFLT4:1:2102:24866:15405,LH00995:48:23YTGFLT4:1:2184:26022:22453,LH00995:48:23YTGFLT4:1:2248:38246:22747,LH00995:48:23YTGFLT4:1:2251:20715:11383,LH00995:48:23YTGFLT4:1:2273:27171:7880,LH00995:48:23YTGFLT4:2:1131:38133:7334,LH00995:48:23YTGFLT4:2:1237:3783:25017,LH00995:48:23YTGFLT4:2:1237:3815:25017,LH00995:48:23YTGFLT4:2:2383:39605:6465,LH00995:48:23YTGFLT4:3:1496:18555:7950,LH00995:48:23YTGFLT4:3:1496:18563:7964,LH00995:48:23YTGFLT4:3:2172:22940:16161,LH00995:48:23YTGFLT4:4:1127:33271:22705,LH00995:48:23YTGFLT4:4:2229:48504:9688,LH00995:48:23YTGFLT4:4:2405:37437:16049,LH00995:48:23YTGFLT4:5:2309:45673:17647,LH00995:48:23YTGFLT4:5:2309:45681:17661,LH00995:48:23YTGFLT4:5:2312:27495:1210,LH00995:48:23YTGFLT4:5:2347:51983:21934,LH00995:48:23YTGFLT4:5:2366:12294:29305,LH00995:48:23YTGFLT4:5:2366:12310:29305,LH00995:48:23YTGFLT4:6:1204:47469:3074,LH00995:48:23YTGFLT4:6:1246:49475:16385,LH00995:48:23YTGFLT4:6:1259:23919:16007,LH00995:48:23YTGFLT4:6:1339:19397:27707,LH00995:48:23YTGFLT4:6:2411:46733:16624,LH00995:48:23YTGFLT4:7:1156:42089:10094,LH00995:48:23YTGFLT4:7:2155:45082:9505,LH00995:48:23YTGFLT4:7:2203:25763:1631,LH00995:48:23YTGFLT4:7:2221:40067:29347,LH00995:48:23YTGFLT4:7:2385:39614:29403,LH00995:48:23YTGFLT4:7:2407:4665:12700,LH00995:48:23YTGFLT4:8:1189:3670:29277,LH00995:48:23YTGFLT4:8:1438:39452:5134,LH00995:48:23YTGFLT4:8:2295:20230:23518

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

196

8731

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(62),mismappers(2)

LIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMI

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2347

336

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(20)

GTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCT

SISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:48:23YTGFLT4:1:1186:44144:4994,LH00995:48:23YTGFLT4:1:1310:37470:8931,LH00995:48:23YTGFLT4:1:1435:50406:3032,LH00995:48:23YTGFLT4:1:1435:50422:3032,LH00995:48:23YTGFLT4:1:2201:33489:26278,LH00995:48:23YTGFLT4:2:2137:16646:27707,LH00995:48:23YTGFLT4:3:2226:43432:14718,LH00995:48:23YTGFLT4:4:1334:12099:1589,LH00995:48:23YTGFLT4:4:2123:32260:24036,LH00995:48:23YTGFLT4:6:1179:40762:19482,LH00995:48:23YTGFLT4:6:1179:40779:19482,LH00995:48:23YTGFLT4:6:1179:40795:19482,LH00995:48:23YTGFLT4:7:1412:46895:4013,LH00995:48:23YTGFLT4:7:2361:22786:27862,LH00995:48:23YTGFLT4:7:2491:34266:15377,LH00995:48:23YTGFLT4:8:2272:9721:21066,LH00995:48:23YTGFLT4:8:2307:16444:4797,LH00995:48:23YTGFLT4:1:1158:48521:28716,LH00995:48:23YTGFLT4:1:2208:40787:6297,LH00995:48:23YTGFLT4:1:2446:26750:21724,LH00995:48:23YTGFLT4:2:1276:26694:12826,LH00995:48:23YTGFLT4:2:1291:48707:7235,LH00995:48:23YTGFLT4:2:2487:42170:19230,LH00995:48:23YTGFLT4:3:1386:43861:20785,LH00995:48:23YTGFLT4:3:1443:30108:4643,LH00995:48:23YTGFLT4:3:1443:30116:4657,LH00995:48:23YTGFLT4:3:1475:13701:21262,LH00995:48:23YTGFLT4:4:1162:16282:11439,LH00995:48:23YTGFLT4:4:1189:45649:1687,LH00995:48:23YTGFLT4:4:1203:41531:28912,LH00995:48:23YTGFLT4:4:1332:18313:4699,LH00995:48:23YTGFLT4:4:1350:25545:28268,LH00995:48:23YTGFLT4:4:2471:35569:5470,LH00995:48:23YTGFLT4:5:2235:35172:3999,LH00995:48:23YTGFLT4:6:2126:7496:14830,LH00995:48:23YTGFLT4:6:2345:6744:14508,LH00995:48:23YTGFLT4:7:2139:32284:13625,LH00995:48:23YTGFLT4:7:2235:40261:28730,LH00995:48:23YTGFLT4:7:2463:47105:7908,LH00995:48:23YTGFLT4:8:1392:42089:15447,LH00995:48:23YTGFLT4:8:1392:42097:15433,LH00995:48:23YTGFLT4:8:1392:42105:15447

ADAMTS8

-/-

chr11:130428223

chr11:130428225

CDS

duplication/ITD

275

238

medium

in-frame

|ADAM-TS_Spacer_1(100%),ADAMTS_cysteine-rich_domain_2(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%),Thrombospondin_type_1_domain(100%)

ENSG00000134917.10

ENST00000257359.7

upstream

downstream

duplicates(43),mismappers(9)

CACCTGCCCGCGCCTGGCGGGCTTCTTCCCTCTCCTGCGCGCAGCCACCGCCGCAGCCCCCATGCTCCCCGCCCCCGCCGCCCCCCGGTGGCCTCCGCTCCTGCTGCTGCTGCTGCTGCTGCTGC|TGCCGCTGGCCCGCGGCGCCCCGGCCCGGCCCGCAGCCGGGGGGCAGGCCTCGGAGCTGGTGGTGCCCACGCGGTTGCCCGGCAGCGCGGGCGAGCTCGCGCTCCACCT

MLPAPAAPRWPPLLLLLLLLL|lPLARGAPARPAAGGQASELVVPTRLPGSAGELALH

LH00995:48:23YTGFLT4:1:1261:25553:3760,LH00995:48:23YTGFLT4:1:2229:19340:10318,LH00995:48:23YTGFLT4:1:2261:30537:29235,LH00995:48:23YTGFLT4:1:2491:25108:12322,LH00995:48:23YTGFLT4:2:1125:29258:15979,LH00995:48:23YTGFLT4:2:1132:13111:2948,LH00995:48:23YTGFLT4:2:2198:20359:7600,LH00995:48:23YTGFLT4:2:2448:47962:7852,LH00995:48:23YTGFLT4:3:1166:47987:19468,LH00995:48:23YTGFLT4:3:1372:39363:27007,LH00995:48:23YTGFLT4:3:1377:42534:25465,LH00995:48:23YTGFLT4:3:1440:19219:17282,LH00995:48:23YTGFLT4:3:2232:50745:9618,LH00995:48:23YTGFLT4:3:2393:29752:6409,LH00995:48:23YTGFLT4:3:2402:32090:16848,LH00995:48:23YTGFLT4:3:2440:44346:11145,LH00995:48:23YTGFLT4:4:1126:20877:8413,LH00995:48:23YTGFLT4:4:2133:15012:2233,LH00995:48:23YTGFLT4:4:2184:14696:1154,LH00995:48:23YTGFLT4:4:2191:48149:4167,LH00995:48:23YTGFLT4:4:2323:38465:20519,LH00995:48:23YTGFLT4:4:2461:45333:22467,LH00995:48:23YTGFLT4:4:2479:38295:3887,LH00995:48:23YTGFLT4:5:1249:50567:9449,LH00995:48:23YTGFLT4:5:1390:51069:4965,LH00995:48:23YTGFLT4:5:1422:9300:26138,LH00995:48:23YTGFLT4:5:2336:25141:24036,LH00995:48:23YTGFLT4:6:1120:32947:16792,LH00995:48:23YTGFLT4:6:1268:13904:10346,LH00995:48:23YTGFLT4:6:1303:20376:9926,LH00995:48:23YTGFLT4:6:1355:1890:7530,LH00995:48:23YTGFLT4:6:2436:41062:27679,LH00995:48:23YTGFLT4:6:2443:39169:12798,LH00995:48:23YTGFLT4:6:2448:16978:25367,LH00995:48:23YTGFLT4:7:1122:9891:21192,LH00995:48:23YTGFLT4:7:1187:3168:19524,LH00995:48:23YTGFLT4:7:1261:27017:21850,LH00995:48:23YTGFLT4:7:1359:21597:5176,LH00995:48:23YTGFLT4:7:1431:25521:17577,LH00995:48:23YTGFLT4:7:1477:47056:2163,LH00995:48:23YTGFLT4:7:2153:28174:7292,LH00995:48:23YTGFLT4:7:2191:22495:3256,LH00995:48:23YTGFLT4:7:2474:25294:25620,LH00995:48:23YTGFLT4:8:2153:40301:13331,LH00995:48:23YTGFLT4:8:2157:2756:1462,LH00995:48:23YTGFLT4:8:2496:16007:12924,LH00995:48:23YTGFLT4:8:2154:32446:11747,LH00995:48:23YTGFLT4:1:1172:15060:16329,LH00995:48:23YTGFLT4:1:1429:27066:24064,LH00995:48:23YTGFLT4:1:2329:39881:22187,LH00995:48:23YTGFLT4:1:2383:35771:24373,LH00995:48:23YTGFLT4:2:1256:49993:12995,LH00995:48:23YTGFLT4:2:2473:16314:20463,LH00995:48:23YTGFLT4:3:1141:50373:12420,LH00995:48:23YTGFLT4:3:1325:20028:19861,LH00995:48:23YTGFLT4:3:2126:44225:20547,LH00995:48:23YTGFLT4:4:1138:19696:29515,LH00995:48:23YTGFLT4:4:2152:25383:13359,LH00995:48:23YTGFLT4:4:2152:30512:19160,LH00995:48:23YTGFLT4:4:2209:26791:9716,LH00995:48:23YTGFLT4:4:2306:18693:24555,LH00995:48:23YTGFLT4:6:1225:22447:21472,LH00995:48:23YTGFLT4:6:1225:22463:21472,LH00995:48:23YTGFLT4:6:2212:15465:28324,LH00995:48:23YTGFLT4:6:2287:46320:6185,LH00995:48:23YTGFLT4:6:2307:35010:2373,LH00995:48:23YTGFLT4:6:2307:35018:2359,LH00995:48:23YTGFLT4:6:2449:45430:27763,LH00995:48:23YTGFLT4:7:1195:3403:4461,LH00995:48:23YTGFLT4:7:1405:16274:5848,LH00995:48:23YTGFLT4:7:1405:16282:5834

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

812

800

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(20),mismappers(2)

CTATGAAGGAGGAGATTTTGAAAAAGCTGCTGAATTATACAAAAGGGCAATGGAAATAAAAGAAGCAGAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACC

YEGGDFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKK

LH00995:48:23YTGFLT4:1:1282:24874:15503,LH00995:48:23YTGFLT4:1:2253:11533:26671,LH00995:48:23YTGFLT4:8:2296:32130:19132,LH00995:48:23YTGFLT4:1:1168:38724:2443,LH00995:48:23YTGFLT4:1:1417:50762:14045,LH00995:48:23YTGFLT4:1:2149:33934:15026,LH00995:48:23YTGFLT4:1:2243:51530:18095,LH00995:48:23YTGFLT4:1:2325:12795:25213,LH00995:48:23YTGFLT4:2:1148:5247:1911,LH00995:48:23YTGFLT4:2:1257:30367:7838,LH00995:48:23YTGFLT4:2:1269:38513:17661,LH00995:48:23YTGFLT4:2:1334:16379:14494,LH00995:48:23YTGFLT4:2:1454:33716:2261,LH00995:48:23YTGFLT4:2:2281:16047:6100,LH00995:48:23YTGFLT4:2:2301:21233:21836,LH00995:48:23YTGFLT4:2:2338:41822:6269,LH00995:48:23YTGFLT4:3:1224:23684:15853,LH00995:48:23YTGFLT4:3:2295:23660:25564,LH00995:48:23YTGFLT4:3:2476:4454:17997,LH00995:48:23YTGFLT4:4:2146:40892:21276,LH00995:48:23YTGFLT4:4:2351:24137:19861,LH00995:48:23YTGFLT4:5:1148:12763:22747,LH00995:48:23YTGFLT4:5:1326:46158:17198,LH00995:48:23YTGFLT4:5:1326:46166:17184,LH00995:48:23YTGFLT4:5:1387:34501:9533,LH00995:48:23YTGFLT4:5:2142:41636:16764,LH00995:48:23YTGFLT4:5:2174:28781:10725,LH00995:48:23YTGFLT4:5:2458:23045:9113,LH00995:48:23YTGFLT4:6:2103:31742:15124,LH00995:48:23YTGFLT4:6:2166:26443:26797,LH00995:48:23YTGFLT4:6:2211:35075:5960,LH00995:48:23YTGFLT4:6:2428:9033:10430,LH00995:48:23YTGFLT4:7:1215:10668:24835,LH00995:48:23YTGFLT4:7:1357:40471:11187,LH00995:48:23YTGFLT4:7:1357:40479:11173,LH00995:48:23YTGFLT4:7:1357:40487:11159,LH00995:48:23YTGFLT4:7:1427:24655:14536,LH00995:48:23YTGFLT4:7:2197:34129:1546,LH00995:48:23YTGFLT4:8:1146:30464:18095,LH00995:48:23YTGFLT4:8:1315:31232:8160

PCDHA11

PCDHAC1

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

128

692

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(26),low_entropy(1)

GGGCCCACCTAAGACGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAG

GPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

LH00995:48:23YTGFLT4:1:1367:43845:3018,LH00995:48:23YTGFLT4:1:1422:44427:14368,LH00995:48:23YTGFLT4:1:2153:14526:28380,LH00995:48:23YTGFLT4:2:1377:30035:16792,LH00995:48:23YTGFLT4:2:1419:1744:12826,LH00995:48:23YTGFLT4:2:1452:19914:25409,LH00995:48:23YTGFLT4:3:1220:20319:21458,LH00995:48:23YTGFLT4:3:1220:20327:21472,LH00995:48:23YTGFLT4:3:1319:46166:15194,LH00995:48:23YTGFLT4:3:1406:14931:9604,LH00995:48:23YTGFLT4:3:2297:36119:23826,LH00995:48:23YTGFLT4:4:2105:11582:24569,LH00995:48:23YTGFLT4:5:1133:30084:24975,LH00995:48:23YTGFLT4:5:1155:29954:26404,LH00995:48:23YTGFLT4:5:1203:30342:16932,LH00995:48:23YTGFLT4:5:1301:8338:1126,LH00995:48:23YTGFLT4:5:1470:24396:17703,LH00995:48:23YTGFLT4:5:1480:5822:22495,LH00995:48:23YTGFLT4:5:2321:18402:3732,LH00995:48:23YTGFLT4:6:2157:6420:21122,LH00995:48:23YTGFLT4:6:2409:10401:1448,LH00995:48:23YTGFLT4:7:2204:14162:24807,LH00995:48:23YTGFLT4:7:2362:46579:5876,LH00995:48:23YTGFLT4:7:2394:4382:15797,LH00995:48:23YTGFLT4:8:2236:27867:20267,LH00995:48:23YTGFLT4:1:2313:7181:4587,LH00995:48:23YTGFLT4:1:2389:38036:6269,LH00995:48:23YTGFLT4:2:1172:39063:17212,LH00995:48:23YTGFLT4:3:1278:2472:6493,LH00995:48:23YTGFLT4:3:1316:42696:7109,LH00995:48:23YTGFLT4:4:1404:22325:22074,LH00995:48:23YTGFLT4:4:1404:22341:22074,LH00995:48:23YTGFLT4:5:2350:32316:5638,LH00995:48:23YTGFLT4:6:1279:34525:23420,LH00995:48:23YTGFLT4:6:2466:40892:8973,LH00995:48:23YTGFLT4:7:2256:26249:12981,LH00995:48:23YTGFLT4:7:2464:13984:23294,LH00995:48:23YTGFLT4:8:1206:23612:25788,LH00995:48:23YTGFLT4:8:1327:8969:26068,LH00995:48:23YTGFLT4:8:1475:47760:25522,LH00995:48:23YTGFLT4:8:2434:22301:12224,LH00995:48:23YTGFLT4:8:2491:51651:8160

PCDHA11

PCDHAC2

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

128

692

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(26),low_entropy(1)

GPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

PCDHA11

PCDHA13

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

128

692

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(26),low_entropy(1)

GPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

PCDHA3

PCDHAC1

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

132

692

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(31)

GGGTTGCCCAAGACCGACCTCATGGCTTTTAGCCCTAGCCTTCCTCCTTGTCCAATTAGCCGGGATAGAGAGGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCC

GLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQW

LH00995:48:23YTGFLT4:1:1190:16387:15349,LH00995:48:23YTGFLT4:1:2253:8378:17899,LH00995:48:23YTGFLT4:2:1102:50454:11916,LH00995:48:23YTGFLT4:2:1113:24768:9996,LH00995:48:23YTGFLT4:2:1384:11485:19104,LH00995:48:23YTGFLT4:7:1247:45527:18291,LH00995:48:23YTGFLT4:7:1338:28207:15054,LH00995:48:23YTGFLT4:7:1497:26265:5274,LH00995:48:23YTGFLT4:7:2379:27924:27119,LH00995:48:23YTGFLT4:8:2490:36119:14326,LH00995:48:23YTGFLT4:1:1469:31143:23167,LH00995:48:23YTGFLT4:2:1192:49249:13499,LH00995:48:23YTGFLT4:2:1192:49257:13485,LH00995:48:23YTGFLT4:2:2282:37664:5372,LH00995:48:23YTGFLT4:3:1170:36839:9323,LH00995:48:23YTGFLT4:3:1212:1955:14648,LH00995:48:23YTGFLT4:3:1363:25230:21052,LH00995:48:23YTGFLT4:3:1479:28231:9295,LH00995:48:23YTGFLT4:3:1479:28239:9281,LH00995:48:23YTGFLT4:3:1479:28247:9295,LH00995:48:23YTGFLT4:3:2309:44735:27848,LH00995:48:23YTGFLT4:4:1263:43044:16904,LH00995:48:23YTGFLT4:4:1263:43052:16890,LH00995:48:23YTGFLT4:4:1263:43060:16904,LH00995:48:23YTGFLT4:4:1267:38538:20757,LH00995:48:23YTGFLT4:4:1305:45357:26965,LH00995:48:23YTGFLT4:4:2359:25586:16960,LH00995:48:23YTGFLT4:4:2378:3006:20197,LH00995:48:23YTGFLT4:4:2460:28797:14956,LH00995:48:23YTGFLT4:5:1275:8451:2555,LH00995:48:23YTGFLT4:5:2359:28943:23532,LH00995:48:23YTGFLT4:6:1262:1744:19328,LH00995:48:23YTGFLT4:6:1372:26678:2934,LH00995:48:23YTGFLT4:6:1463:26831:28142,LH00995:48:23YTGFLT4:6:2290:37761:11425,LH00995:48:23YTGFLT4:7:1421:9859:9365,LH00995:48:23YTGFLT4:8:1153:30828:2555,LH00995:48:23YTGFLT4:8:1210:22382:5974,LH00995:48:23YTGFLT4:8:1273:3734:24457,LH00995:48:23YTGFLT4:8:1283:2092:8917,LH00995:48:23YTGFLT4:8:1457:32964:28842,LH00995:48:23YTGFLT4:8:1461:36515:2429,LH00995:48:23YTGFLT4:8:2421:24332:26026,LH00995:48:23YTGFLT4:8:2479:28530:6815

PCDHA3

PCDHAC2

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

132

692

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(31)

GLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQW

PCDHA3

PCDHA13

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

132

692

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(31)

GLPKTDLMAFSPSLPPCPISRDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQW

SRRM2

FP236383.3

+/+

chr16:2769182

chr21:8397690

CDS

intron

translocation

11145

215

medium

out-of-frame

cwf21_domain(100%)|

ENSG00000167978.17

ENSG00000280441.3

ENST00000301740.13

downstream

upstream

duplicates(47),low_entropy(8),mismatches(10)

CAGCCAAACGGAAGAGGCGCTCTAGCAGTTCCAGTTCCAGCTCCTCCTCTTCATCTTCCTCCTCCTCCTCCTCCTCCTCTTCTTCCTCCTCCTCTTCCTCTTCTTCTTCTTCCTCCTCATC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

AKRKRRSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSs|svrpsvlll

LH00995:48:23YTGFLT4:1:1187:38198:18011,LH00995:48:23YTGFLT4:1:1285:15764:23434,LH00995:48:23YTGFLT4:1:1288:49491:19945,LH00995:48:23YTGFLT4:1:1325:8605:16638,LH00995:48:23YTGFLT4:1:1369:35933:10332,LH00995:48:23YTGFLT4:1:1388:17973:1589,LH00995:48:23YTGFLT4:1:2333:49702:20141,LH00995:48:23YTGFLT4:1:2387:46264:27301,LH00995:48:23YTGFLT4:1:2474:39144:19454,LH00995:48:23YTGFLT4:2:1129:42672:5050,LH00995:48:23YTGFLT4:2:1167:37065:28016,LH00995:48:23YTGFLT4:2:1413:6873:24961,LH00995:48:23YTGFLT4:2:1424:44977:29529,LH00995:48:23YTGFLT4:2:1446:27681:10725,LH00995:48:23YTGFLT4:2:2103:35156:9239,LH00995:48:23YTGFLT4:2:2137:4398:2373,LH00995:48:23YTGFLT4:2:2154:6420:9856,LH00995:48:23YTGFLT4:2:2191:33926:18291,LH00995:48:23YTGFLT4:2:2238:48043:11691,LH00995:48:23YTGFLT4:2:2252:10554:8637,LH00995:48:23YTGFLT4:2:2278:32600:10893,LH00995:48:23YTGFLT4:2:2284:15708:24429,LH00995:48:23YTGFLT4:2:2403:3023:18908,LH00995:48:23YTGFLT4:3:1184:12876:29053,LH00995:48:23YTGFLT4:3:1242:30609:6633,LH00995:48:23YTGFLT4:3:1278:30359:18165,LH00995:48:23YTGFLT4:3:1314:16201:2667,LH00995:48:23YTGFLT4:3:1357:27988:19692,LH00995:48:23YTGFLT4:3:1432:31799:24835,LH00995:48:23YTGFLT4:3:1432:31807:24849,LH00995:48:23YTGFLT4:3:2129:27762:28548,LH00995:48:23YTGFLT4:3:2163:42558:3564,LH00995:48:23YTGFLT4:3:2255:45859:5722,LH00995:48:23YTGFLT4:3:2296:45390:25087,LH00995:48:23YTGFLT4:3:2306:43311:28520,LH00995:48:23YTGFLT4:4:1221:38060:17661,LH00995:48:23YTGFLT4:4:1221:38068:17675,LH00995:48:23YTGFLT4:4:1324:47453:17899,LH00995:48:23YTGFLT4:4:1331:30092:1589,LH00995:48:23YTGFLT4:4:1331:30100:1575,LH00995:48:23YTGFLT4:4:1342:45997:11089,LH00995:48:23YTGFLT4:4:1345:24720:26783,LH00995:48:23YTGFLT4:4:1345:24728:26797,LH00995:48:23YTGFLT4:4:1417:10239:17422,LH00995:48:23YTGFLT4:4:1437:1510:9898,LH00995:48:23YTGFLT4:4:2164:4632:16203,LH00995:48:23YTGFLT4:4:2235:29566:19987,LH00995:48:23YTGFLT4:4:2285:12811:18571,LH00995:48:23YTGFLT4:4:2339:45171:12042,LH00995:48:23YTGFLT4:4:2456:7642:14466,LH00995:48:23YTGFLT4:5:1129:38619:22495,LH00995:48:23YTGFLT4:5:1220:38974:19833,LH00995:48:23YTGFLT4:5:1291:25909:6563,LH00995:48:23YTGFLT4:5:1307:43311:13555,LH00995:48:23YTGFLT4:5:1413:47890:14087,LH00995:48:23YTGFLT4:5:2310:20554:25171,LH00995:48:23YTGFLT4:5:2398:13086:6773,LH00995:48:23YTGFLT4:6:1159:41094:18684,LH00995:48:23YTGFLT4:6:1159:41102:18698,LH00995:48:23YTGFLT4:6:1238:27050:20001,LH00995:48:23YTGFLT4:6:2171:2100:2794,LH00995:48:23YTGFLT4:6:2253:24000:18109,LH00995:48:23YTGFLT4:6:2338:44209:19370,LH00995:48:23YTGFLT4:6:2484:23895:13387,LH00995:48:23YTGFLT4:7:1209:16347:14970,LH00995:48:23YTGFLT4:7:1270:26928:6114,LH00995:48:23YTGFLT4:7:1295:4576:6465,LH00995:48:23YTGFLT4:7:1304:6663:29193,LH00995:48:23YTGFLT4:7:2283:20764:6535,LH00995:48:23YTGFLT4:7:2335:14138:14844,LH00995:48:23YTGFLT4:7:2464:43149:17983,LH00995:48:23YTGFLT4:8:1256:2181:11930,LH00995:48:23YTGFLT4:8:1434:46053:17492,LH00995:48:23YTGFLT4:8:2401:19914:20085,LH00995:48:23YTGFLT4:8:2464:12795:13275,LH00995:48:23YTGFLT4:8:2479:11444:25676,LH00995:48:23YTGFLT4:6:2423:47582:28324

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

441

205

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(13),mismatches(1),multimappers(1)

ATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAATGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAG

LH00995:48:23YTGFLT4:4:2154:14567:9365,LH00995:48:23YTGFLT4:8:1480:31216:9758,LH00995:48:23YTGFLT4:1:1134:5708:14200,LH00995:48:23YTGFLT4:1:2105:24267:14676,LH00995:48:23YTGFLT4:1:2161:2327:25045,LH00995:48:23YTGFLT4:1:2210:20012:9435,LH00995:48:23YTGFLT4:2:1141:26678:9576,LH00995:48:23YTGFLT4:2:1445:1987:11537,LH00995:48:23YTGFLT4:2:2361:18555:18375,LH00995:48:23YTGFLT4:3:2392:32980:11467,LH00995:48:23YTGFLT4:4:1484:21969:29333,LH00995:48:23YTGFLT4:4:2448:12302:13261,LH00995:48:23YTGFLT4:4:2448:19631:22060,LH00995:48:23YTGFLT4:5:1113:22811:6381,LH00995:48:23YTGFLT4:5:1473:49783:11593,LH00995:48:23YTGFLT4:5:2226:14980:18543,LH00995:48:23YTGFLT4:5:2226:14988:18529,LH00995:48:23YTGFLT4:5:2341:45463:20701,LH00995:48:23YTGFLT4:6:1392:7682:29417,LH00995:48:23YTGFLT4:6:2302:5935:2457,LH00995:48:23YTGFLT4:6:2453:10142:15685,LH00995:48:23YTGFLT4:7:1179:8564:23630,LH00995:48:23YTGFLT4:7:1179:8580:23630,LH00995:48:23YTGFLT4:7:1281:7634:4895,LH00995:48:23YTGFLT4:7:1340:3289:21052

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

1460

3132

medium

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(3),mismappers(1)

TGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAAAGTGAAACGATCTGTGAAAGATGCTG

ALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDA

LH00995:48:23YTGFLT4:1:1268:14850:8707,LH00995:48:23YTGFLT4:3:2230:10433:15236,LH00995:48:23YTGFLT4:3:2240:9640:13947,LH00995:48:23YTGFLT4:4:1151:11711:20673,LH00995:48:23YTGFLT4:5:1394:27592:13429,LH00995:48:23YTGFLT4:5:2313:48674:9141,LH00995:48:23YTGFLT4:6:1341:40398:9239,LH00995:48:23YTGFLT4:2:2232:34614:10430,LH00995:48:23YTGFLT4:2:2280:17269:14662,LH00995:48:23YTGFLT4:2:2470:42526:19398,LH00995:48:23YTGFLT4:4:2276:4115:6675,LH00995:48:23YTGFLT4:5:1382:18814:10220,LH00995:48:23YTGFLT4:5:2382:22608:9169,LH00995:48:23YTGFLT4:5:2424:8022:1168

RNF103

CHMP3

-/-

chr2:86612159

chr2:86542312

CDS/splice-site

deletion/read-through

1051

3132

low

out-of-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

GGCTGGTTCAG___GTCATAGCAAATGACAGAAGTCCCTTGGTGGGCAAAATTCACTGGGAGAAAATGGTTAAAAAGGTGTCAAGATTTGGAATACGTACAGGCACATTTAACTGTTCCAGTGATCCCAG|GTCAATGAGT

LVQVIANDRSPLVGKIHWEKMVKKVSRFGIRTGTFNCSSDPr|sm

LH00995:48:23YTGFLT4:7:2224:38602:26278

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

1455

medium

in-frame

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000403751.8

downstream

upstream

duplicates(9),low_entropy(2),mismatches(1)

CAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGC

QFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKATEDFFRN

LH00995:48:23YTGFLT4:1:2115:26419:12350,LH00995:48:23YTGFLT4:2:2142:24510:13919,LH00995:48:23YTGFLT4:3:2195:5466:2009,LH00995:48:23YTGFLT4:3:2433:42146:29193,LH00995:48:23YTGFLT4:4:2116:12925:11229,LH00995:48:23YTGFLT4:5:2201:17989:20897,LH00995:48:23YTGFLT4:6:1129:33837:20239,LH00995:48:23YTGFLT4:6:1497:22066:19132,LH00995:48:23YTGFLT4:6:1497:22074:19146,LH00995:48:23YTGFLT4:6:2398:22350:10795,LH00995:48:23YTGFLT4:8:2430:45843:13289,LH00995:48:23YTGFLT4:1:1270:19348:10360,LH00995:48:23YTGFLT4:1:1389:31321:23111,LH00995:48:23YTGFLT4:2:1479:3176:11271,LH00995:48:23YTGFLT4:2:2251:22576:22845,LH00995:48:23YTGFLT4:3:2265:36612:3186,LH00995:48:23YTGFLT4:5:1116:43440:21486,LH00995:48:23YTGFLT4:5:1222:15546:29193,LH00995:48:23YTGFLT4:6:2204:33764:9435,LH00995:48:23YTGFLT4:6:2436:18313:9295,LH00995:48:23YTGFLT4:8:2229:11104:29403,LH00995:48:23YTGFLT4:8:2364:50754:8314

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

1455

141

low

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000444932.1

ENST00000430487.6

downstream

upstream

duplicates(5)

AGATCGGCTTCCAGACAAAAATTCAA___TTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___GGCACTTCAAACTCCAGTGCAAACTTTACTTTTCCTGGTTATCCCATTCATGTACCAGCAGGTGTGACA

LH00995:48:23YTGFLT4:2:2227:1898:17941,LH00995:48:23YTGFLT4:2:2314:34307:26741,LH00995:48:23YTGFLT4:3:2192:25804:14760,LH00995:48:23YTGFLT4:6:1152:40479:1084,LH00995:48:23YTGFLT4:6:2474:12083:27511,LH00995:48:23YTGFLT4:7:1388:8087:17675,LH00995:48:23YTGFLT4:7:2138:39573:3830,LH00995:48:23YTGFLT4:1:2132:35787:4503,LH00995:48:23YTGFLT4:1:2258:10182:5470,LH00995:48:23YTGFLT4:2:2149:22503:26558,LH00995:48:23YTGFLT4:3:1232:47954:24737

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

707

141

low

out-of-frame

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

duplicates(5),mismatches(1)

GTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACTG

VGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:48:23YTGFLT4:2:1117:26799:25311,LH00995:48:23YTGFLT4:1:1354:38238:29403,LH00995:48:23YTGFLT4:1:2465:42752:28926,LH00995:48:23YTGFLT4:2:1248:43626:22369,LH00995:48:23YTGFLT4:3:1269:33619:9884,LH00995:48:23YTGFLT4:3:1404:38643:17016,LH00995:48:23YTGFLT4:4:2416:46522:27918,LH00995:48:23YTGFLT4:5:2271:41199:21444,LH00995:48:23YTGFLT4:6:2209:19567:19734,LH00995:48:23YTGFLT4:7:2191:44508:11257,LH00995:48:23YTGFLT4:8:1492:34226:4041

STON1

GTF2A1L

+/+

chr2:48530829

chr2:48621167

5'UTR/splice-site

CDS/splice-site

deletion/read-through

141

low

|Transcription_factor_IIA__alpha/beta_subunit(93%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000406226.1

ENST00000430487.6

downstream

upstream

duplicates(1)

CCACACTGGCCCAAATATTTCCTGCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCG

LH00995:48:23YTGFLT4:1:2335:35916:19356,LH00995:48:23YTGFLT4:1:2335:35925:19342

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48669722

CDS/splice-site

deletion/read-through

1455

210

low

in-frame

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(32%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

CTTGCTACAACATCCAG|GATTCTAATTCTCAGGTGGATTTAAGCATTCGGGTTACTGATGATGATATTGGTGAAATAATTCAAGTAGATGGAAGCGGTGATACATCTTCCAATGAAGAAATAGGAAGTACAAGAGATGCAGATGAGAATGA...TAGGGAATATTGACGGGGGAGATCTGAAGGTACCTGAAGAAGAAGCTGACAGTATTTCAAATGAGGATTCAGCCACAAACAGTAGTGATAATGAAGACCCTCAAGTAAACATTGTAGAAGAG___GACCCTTTAAATTCTGGAGATGATGTTAG

CYNIQ|DSNSQVDLSIRVTDDDIGEIIQVDGSGDTSSNEEIGSTRDADEN

LH00995:48:23YTGFLT4:2:1101:14049:22032

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48620851

CDS/splice-site

deletion/read-through

707

low

out-of-frame

Adaptor_complexes_medium_subunit_family(63%)|Transcription_factor_IIA__alpha/beta_subunit(100%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000403751.8

downstream

upstream

GTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAAC

VTVGSAKYESAYQAVVWKIDRLPDKNS|t*

LH00995:48:23YTGFLT4:8:1359:2464:25536

NPIPB2

-/-

chr16:11930464

chr16:11930532

CDS

duplication/ITD

177

180

medium

in-frame

Nuclear_pore_complex_interacting_protein_(NPIP)(50%)|Nuclear_pore_complex_interacting_protein_(NPIP)(56%)

ENSG00000234719.9

ENST00000673243.1

upstream

downstream

duplicates(52)

GCTGGTGGATCATGTGTGTGCATTTCTCTCCCTTCTAATCTGAGGAAACTAAGCGTGAAAGAATGTGAGCATGCAGAAAAGGAGAGGCAGGTaTCAGAGGCAGAGGAAAATGGGAAATTGGATATGAAAGAA|TGTGAGCATGCAGAAAAGGAGAGGCAGGTaTCAGAGGCAGAGGAAAATGGGAAATTGGATATGAAAGAA

aggscvcislpsnlrKLSVKECEHAEKERQVSEAEENGKLDMKE|CEHAEKERQVSEAEENGKLDMK

LH00995:48:23YTGFLT4:4:1416:5797:6311,LH00995:48:23YTGFLT4:1:1370:34962:9968,LH00995:48:23YTGFLT4:1:1370:34962:9968,LH00995:48:23YTGFLT4:1:1370:34962:9968,LH00995:48:23YTGFLT4:1:1370:34962:9968,LH00995:48:23YTGFLT4:1:1370:34962:9968,LH00995:48:23YTGFLT4:1:1370:34962:9968,LH00995:48:23YTGFLT4:2:2220:4697:6983,LH00995:48:23YTGFLT4:2:2220:4697:6983,LH00995:48:23YTGFLT4:2:2220:4697:6983,LH00995:48:23YTGFLT4:2:2220:4697:6983,LH00995:48:23YTGFLT4:2:2220:4697:6983,LH00995:48:23YTGFLT4:2:2220:4697:6983,LH00995:48:23YTGFLT4:2:2239:9074:19804,LH00995:48:23YTGFLT4:2:2239:9074:19804,LH00995:48:23YTGFLT4:2:2239:9074:19804,LH00995:48:23YTGFLT4:2:2239:9074:19804,LH00995:48:23YTGFLT4:2:2239:9074:19804,LH00995:48:23YTGFLT4:2:2239:9074:19804,LH00995:48:23YTGFLT4:4:1371:22422:9688,LH00995:48:23YTGFLT4:4:1371:22422:9688,LH00995:48:23YTGFLT4:4:1371:22422:9688,LH00995:48:23YTGFLT4:4:1371:22422:9688,LH00995:48:23YTGFLT4:4:1371:22422:9688,LH00995:48:23YTGFLT4:4:1371:22422:9688,LH00995:48:23YTGFLT4:4:1416:5797:6311,LH00995:48:23YTGFLT4:4:1416:5797:6311,LH00995:48:23YTGFLT4:4:1416:5797:6311,LH00995:48:23YTGFLT4:4:1416:5797:6311,LH00995:48:23YTGFLT4:4:1416:5797:6311,LH00995:48:23YTGFLT4:4:1416:5797:6311,LH00995:48:23YTGFLT4:4:1416:5797:6311,LH00995:48:23YTGFLT4:4:2343:18491:23616,LH00995:48:23YTGFLT4:4:2343:18491:23616,LH00995:48:23YTGFLT4:4:2343:18491:23616,LH00995:48:23YTGFLT4:4:2343:18491:23616,LH00995:48:23YTGFLT4:4:2343:18491:23616,LH00995:48:23YTGFLT4:4:2343:18491:23616,LH00995:48:23YTGFLT4:5:1150:35431:6072,LH00995:48:23YTGFLT4:5:1150:35431:6072,LH00995:48:23YTGFLT4:5:1150:35431:6072,LH00995:48:23YTGFLT4:5:1150:35431:6072,LH00995:48:23YTGFLT4:5:1150:35431:6072,LH00995:48:23YTGFLT4:5:1150:35431:6072,LH00995:48:23YTGFLT4:6:1305:50042:11033,LH00995:48:23YTGFLT4:6:1305:50042:11033,LH00995:48:23YTGFLT4:6:1305:50042:11033,LH00995:48:23YTGFLT4:6:1305:50042:11033,LH00995:48:23YTGFLT4:6:1305:50042:11033,LH00995:48:23YTGFLT4:6:1305:50042:11033,LH00995:48:23YTGFLT4:6:1306:49734:7866,LH00995:48:23YTGFLT4:6:1306:49734:7866,LH00995:48:23YTGFLT4:6:1306:49734:7866,LH00995:48:23YTGFLT4:6:1306:49734:7866,LH00995:48:23YTGFLT4:6:1306:49734:7866,LH00995:48:23YTGFLT4:6:1306:49734:7866,LH00995:48:23YTGFLT4:8:2277:25683:27021,LH00995:48:23YTGFLT4:8:2277:25683:27021,LH00995:48:23YTGFLT4:8:2277:25683:27021,LH00995:48:23YTGFLT4:8:2277:25683:27021,LH00995:48:23YTGFLT4:8:2277:25683:27021,LH00995:48:23YTGFLT4:8:2277:25683:27021

PKD1P3

AC138932.3(18801),PDXDC1(2670)

+/+

./-

chr16:14911907

chr16:14971921

exon/splice-site

intergenic

inversion

5841

medium

ENSG00000183458.14

ENST00000534164.6

downstream

mismappers(3)

CCCTGCCTCTGCGGCCTAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT|ACGAGTCTCACTCTGTTGTCCAGGCTGAAGTGTAACGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCCCGGTTCAgGTGATTCTGCTGCCTCAGCCTCCCGG

LH00995:48:23YTGFLT4:1:2102:23482:26685,LH00995:48:23YTGFLT4:2:2322:38206:7908,LH00995:48:23YTGFLT4:2:2364:26176:24288,LH00995:48:23YTGFLT4:3:1408:36208:3971,LH00995:48:23YTGFLT4:4:2455:15918:11033,LH00995:48:23YTGFLT4:4:2478:27195:7614,LH00995:48:23YTGFLT4:5:1446:19283:26502,LH00995:48:23YTGFLT4:5:2333:13014:17717,LH00995:48:23YTGFLT4:8:1310:27115:3999,LH00995:48:23YTGFLT4:8:1224:49945:2850,LH00995:48:23YTGFLT4:8:1437:17269:28590,LH00995:48:23YTGFLT4:8:2215:44613:24162

AC100821.2

LYPLA1

-/-

chr8:54044817

chr8:54055133

exon/splice-site

CDS/splice-site

duplication

1295

medium

|Phospholipase/Carboxylesterase(60%)

ENSG00000260955.2

ENSG00000120992.18

ENST00000565668.2

ENST00000316963.8

upstream

downstream

duplicates(6),mismatches(1)

GAACTAAAAGGAAACTAAAAACCCGCATGACACAGTTAACTTTGGGGCTTAAGATGAGATAAG|TAAAAGCTTTGATTGATCAAGAAGTGAAGAATGGCATTCCTTCTAACAGAATTATTTTGGGAGGGTTTTCTCAG___GGAGGAGCTTTATCTTTATATACTGCCCTTACCACACAGCAGAAACTGGCAGGTG

LH00995:48:23YTGFLT4:2:1312:30367:29081,LH00995:48:23YTGFLT4:2:1390:48092:22649,LH00995:48:23YTGFLT4:2:2276:13151:4083,LH00995:48:23YTGFLT4:3:1228:9681:2415,LH00995:48:23YTGFLT4:3:1418:22390:27259,LH00995:48:23YTGFLT4:3:2280:52056:27974,LH00995:48:23YTGFLT4:3:2324:28749:12546,LH00995:48:23YTGFLT4:4:2367:21662:11257,LH00995:48:23YTGFLT4:5:2370:23029:8413,LH00995:48:23YTGFLT4:6:1159:34120:1140,LH00995:48:23YTGFLT4:6:2269:49305:3592,LH00995:48:23YTGFLT4:6:2447:47073:8469,LH00995:48:23YTGFLT4:7:2138:29550:7628,LH00995:48:23YTGFLT4:7:2249:47194:22355,LH00995:48:23YTGFLT4:7:2249:47202:22341,LH00995:48:23YTGFLT4:7:2321:41911:22285

PCDHGB3

PCDHGA8

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000253767.3

ENST00000618934.1

ENST00000398604.3

downstream

upstream

duplicates(31),low_entropy(1)

GTGTGCTGCCTCACATTCCTCAAACACCGAGTTTAAATTTCTCAATATAAAGGCTGAAAATGCTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACC

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

LH00995:48:23YTGFLT4:1:1438:2925:17310,LH00995:48:23YTGFLT4:1:1458:40156:16946,LH00995:48:23YTGFLT4:2:1103:36321:17535,LH00995:48:23YTGFLT4:2:1103:36329:17549,LH00995:48:23YTGFLT4:2:1103:36337:17535,LH00995:48:23YTGFLT4:2:2160:25092:28240,LH00995:48:23YTGFLT4:2:2232:30270:3438,LH00995:48:23YTGFLT4:3:1380:40649:22313,LH00995:48:23YTGFLT4:3:2140:9422:4041,LH00995:48:23YTGFLT4:3:2149:41110:12966,LH00995:48:23YTGFLT4:4:1122:26831:19762,LH00995:48:23YTGFLT4:4:1420:49338:24134,LH00995:48:23YTGFLT4:5:1365:49961:6044,LH00995:48:23YTGFLT4:5:2139:8410:1364,LH00995:48:23YTGFLT4:6:2139:24129:7936,LH00995:48:23YTGFLT4:6:2324:1081:17198,LH00995:48:23YTGFLT4:6:2437:8321:2107,LH00995:48:23YTGFLT4:6:2441:29121:1813,LH00995:48:23YTGFLT4:7:1304:20643:6521,LH00995:48:23YTGFLT4:8:1227:49880:12070,LH00995:48:23YTGFLT4:8:1253:29865:16834,LH00995:48:23YTGFLT4:8:1466:42850:13429,LH00995:48:23YTGFLT4:8:2303:9478:21206,LH00995:48:23YTGFLT4:8:2466:49839:10038,LH00995:48:23YTGFLT4:1:1433:16233:14522,LH00995:48:23YTGFLT4:1:2223:41563:19833,LH00995:48:23YTGFLT4:2:1126:16776:13751,LH00995:48:23YTGFLT4:3:2103:5992:2667,LH00995:48:23YTGFLT4:3:2201:42340:25746,LH00995:48:23YTGFLT4:4:1464:8305:17296,LH00995:48:23YTGFLT4:5:1264:33498:1743,LH00995:48:23YTGFLT4:5:1354:30747:6058,LH00995:48:23YTGFLT4:6:1169:35706:10837,LH00995:48:23YTGFLT4:6:1217:31176:2878,LH00995:48:23YTGFLT4:6:1304:17496:26713,LH00995:48:23YTGFLT4:6:1466:5692:24933,LH00995:48:23YTGFLT4:6:2218:4495:9968,LH00995:48:23YTGFLT4:6:2381:29137:16918,LH00995:48:23YTGFLT4:7:2355:33538:29221,LH00995:48:23YTGFLT4:8:2168:48496:13737

PCDHGB3

PCDHGB6

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000253305.2

ENST00000618934.1

ENST00000520790.1

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGB3

PCDHGC5

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000240764.4

ENST00000618934.1

ENST00000252087.3

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGB3

PCDHGA10

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000253846.2

ENST00000618934.1

ENST00000398610.2

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGB3

PCDHGC4

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000242419.5

ENST00000618934.1

ENST00000306593.1

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGB3

PCDHGA9

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000261934.2

ENST00000618934.1

ENST00000573521.1

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGB3

PCDHGB7

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000254122.3

ENST00000618934.1

ENST00000398594.4

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGB3

PCDHGA11

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000253873.6

ENST00000618934.1

ENST00000398587.7

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGB3

PCDHGA12

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000253159.3

ENST00000618934.1

ENST00000252085.4

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHGB3

PCDHGC3

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

295

8731

medium

in-frame

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

ENSG00000262209.3

ENSG00000240184.7

ENST00000618934.1

ENST00000308177.5

downstream

upstream

duplicates(31),low_entropy(1)

CAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNN

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

692

medium

in-frame

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

ENSG00000204967.12

ENSG00000248383.5

ENST00000672575.1

ENST00000253807.3

downstream

upstream

duplicates(14)

CCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCT

PDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGG

LH00995:48:23YTGFLT4:2:1464:18911:14760,LH00995:48:23YTGFLT4:6:2250:19097:14522,LH00995:48:23YTGFLT4:7:1115:8135:14144,LH00995:48:23YTGFLT4:7:1115:8143:14158,LH00995:48:23YTGFLT4:7:2359:2513:20183,LH00995:48:23YTGFLT4:1:1442:36588:5806,LH00995:48:23YTGFLT4:1:2113:12366:19398,LH00995:48:23YTGFLT4:2:1267:30067:11860,LH00995:48:23YTGFLT4:2:2183:3338:17941,LH00995:48:23YTGFLT4:4:1174:48310:23728,LH00995:48:23YTGFLT4:4:1436:51991:16988,LH00995:48:23YTGFLT4:4:2137:13685:4895,LH00995:48:23YTGFLT4:5:1310:21743:5988,LH00995:48:23YTGFLT4:5:2280:19995:16862,LH00995:48:23YTGFLT4:5:2320:51085:25199,LH00995:48:23YTGFLT4:8:1138:25861:5778,LH00995:48:23YTGFLT4:8:1138:25869:5764,LH00995:48:23YTGFLT4:8:1352:30642:23083,LH00995:48:23YTGFLT4:8:1382:4552:15951,LH00995:48:23YTGFLT4:8:2107:17010:12028

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

692

medium

in-frame

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

ENSG00000204967.12

ENSG00000243232.6

ENST00000672575.1

ENST00000289269.7

downstream

upstream

duplicates(14)

CCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCT

PDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGG

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

692

medium

in-frame

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

ENSG00000204967.12

ENSG00000239389.8

ENST00000672575.1

ENST00000289272.3

downstream

upstream

duplicates(14)

CCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCT

PDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGG

CCDC144B

USP32P3

-/-

+/+

chr17:18542048

chr17:20424592

exon

exon/splice-site

inversion

161

253

medium

ENSG00000154874.15

ENSG00000189423.13

ENST00000618081.4

ENST00000655749.1

upstream

TCTGAATCAAGATCCAGTTTTGGAAGTAACAAAAGAGTATGCACAGATTTTAAGAAGAAAATACATACTCTGAAAG|GTTGTAGATGAGCATGAGAGTGTGGAGCAGAGTTGGCGAGTGCAAGTCGAGCCCATCAACCTGGACAGCTGTCTCCGTGCTTTCACCAGTGAGGAAGAGC

LH00995:48:23YTGFLT4:4:1242:1316:6227,LH00995:48:23YTGFLT4:4:2442:3678:22761,LH00995:48:23YTGFLT4:5:2493:4317:26418,LH00995:48:23YTGFLT4:6:1284:19380:7838,LH00995:48:23YTGFLT4:6:2391:45074:26979

MANSC4

MRPS35

-/+

+/+

chr12:27762965

chr12:27714780

CDS

CDS/splice-site

duplication/3'-3'

556

medium

|Mitochondrial_ribosomal_subunit_protein_(100%)

ENSG00000205693.4

ENSG00000061794.13

ENST00000081029.8

downstream

upstream

duplicates(4)

TGACTATACAACAGCCGAGAAAGATGACAGAGGTGCAAAGGGCCACAGAAACCAGCCAAGTCTTTGAAGTCACAGATACCTCATCTTCATTTGCAGATGTGTGGTTTCTGCTATT|CGGAAAGAACACCCGGAAATGAAAGGCCACCAAGAAGAAAGG

LH00995:48:23YTGFLT4:1:1226:23142:15166,LH00995:48:23YTGFLT4:1:1226:23150:15152,LH00995:48:23YTGFLT4:1:2310:47259:9211,LH00995:48:23YTGFLT4:2:2150:1938:15124,LH00995:48:23YTGFLT4:4:2191:18709:24555,LH00995:48:23YTGFLT4:5:2297:6663:19020,LH00995:48:23YTGFLT4:6:2196:5555:27862,LH00995:48:23YTGFLT4:7:2411:4641:11565,LH00995:48:23YTGFLT4:7:2449:6259:11565

FRG1DP

MLLT10P1(867),5_8S_rRNA(80674)

+/+

./+

chr20:29101550

chr20:30404251

exon/splice-site

intergenic

deletion

medium

ENSG00000282870.1

ENST00000635586.1

downstream

upstream

duplicates(1),mismatches(1)

GTAAAATTCTTAAAAAGGCTCAGAAAGATGGATTTTTGCATGAGACGCTTCTGGACAG|TCTCCCTCTGATGCCAGGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCC

LH00995:48:23YTGFLT4:3:2105:30132:7039,LH00995:48:23YTGFLT4:5:2462:4996:12966,LH00995:48:23YTGFLT4:6:1326:1550:27932,LH00995:48:23YTGFLT4:6:2104:39929:19664,LH00995:48:23YTGFLT4:8:1106:38813:26867,LH00995:48:23YTGFLT4:8:1454:24348:1448

AC009166.3(5996),SOD1P2(5623)

CANX

./+

+/+

chr16:51101948

chr5:179726683

intergenic

CDS/splice-site

translocation

12989

medium

|Calreticulin_family(0%)

ENSG00000127022.16

ENST00000680406.1

downstream

upstream

AGAGAGAGAGAGAGAAACTTGAAG|AGAAACAGAAAAGTGATGCTGAAGAAGATGGTGGCACTGTCAGTCAAGAGGAGGAAGACAGAAAACCTAAAGCAGAG___GAGGATGAAATTTTG

LH00995:48:23YTGFLT4:3:2343:17002:13891,LH00995:48:23YTGFLT4:4:2454:24623:19468,LH00995:48:23YTGFLT4:5:1414:38707:9505

MEX3A

HNRNPD

-/+

-/-

chr1:156082052

chr4:82355401

5'UTR

CDS/splice-site

translocation/3'-3'

8279

medium

ENSG00000254726.3

ENSG00000138668.19

ENST00000313899.12

downstream

duplicates(2),mismatches(1)

GGGAGAGAGAGAGAGAGAGGTGGTG|ACCAGCAGAGTGGTTATGGGAAGGTATCCAGGCGAGGTGGTCATCAAAATAGCTACAAACCATACTAAATTATTCCATTTGCAACTTATCCCCAACAG___GTGGTGAAGCA

LH00995:48:23YTGFLT4:2:1279:4543:8034,LH00995:48:23YTGFLT4:3:1298:48189:18053,LH00995:48:23YTGFLT4:5:1387:12803:16680,LH00995:48:23YTGFLT4:5:2482:44508:13863,LH00995:48:23YTGFLT4:7:1244:16153:25395

MYLK

-/-

-/+

chr3:123700150

chr3:123698314

CDS

intron

inversion/5'-5'

9934

178

medium

out-of-frame

Immunoglobulin_I-set_domain(67%),Unstructured_linker_between_I-set_domains_2_and_3_on_MYLCK(100%)|

ENSG00000065534.19

ENST00000360304.8

upstream

duplicates(2),mismatches(3),multimappers(1)

TCCGCTAGCAAAGAAGAACTCAAGAAAGACGTTAAGAATGATGTGAACTGCAAGAGAGGCCATGCAGGGACCACAGATAATGAAAAGAGATCAGAGAGCCAGGGGACAGCCCCAGCCTTCAAGCAGAAGCTGCAAGA|g|AGGCCATGCAGGGACCACAGATAATGAAAAGAGATCAGAGAGCCAGGGGACAGCCCCA

SASKEELKKDVKNDVNCKRGHAGTTDNEKRSESQGTAPAFKQKLQe|rpcrdhr*

LH00995:48:23YTGFLT4:1:1139:40050:6843,LH00995:48:23YTGFLT4:1:2142:13685:26474,LH00995:48:23YTGFLT4:1:2205:36175:24176,LH00995:48:23YTGFLT4:2:2346:32082:3158,LH00995:48:23YTGFLT4:5:2262:41458:21892,LH00995:48:23YTGFLT4:6:1274:49516:10851,LH00995:48:23YTGFLT4:7:1208:42518:16273,LH00995:48:23YTGFLT4:7:1485:41070:5778,LH00995:48:23YTGFLT4:8:2189:13855:11888

TMEM26

-/-

chr10:61426252

chr10:61453046

intron

CDS

duplication

365

medium

out-of-frame

Transmembrane_protein_26(66%)|Transmembrane_protein_26(97%)

ENSG00000196932.12

ENST00000399298.8

upstream

downstream

duplicates(2)

GGAGGCGGGATCACTCGAGATCAACTCTCTCAACTTCTTCTTATGTTTGTGGGGACAGCGGCTGACATACTGGAATTCACAAGTGAGACCCTAGAAGAACAAAATGTGAG___GTTTAGAACATTCCCATCACTCCAAAAAGATTCCTGTGGCAGTTTGCAGTCAGTCTTCACTCTTAACAGGCAACCACTG|TCGGTTGCTGTTCCTGCTGCACTCGCTGGTCGGGGTCTGGCGAGTGACCGAGGTGAAGAAGGAGCCGCGGTACTGGCTGCTTGCGCTGC

GGGITRDQLSQLLLMFVGTAADILEFTSETLEEQNVrfrtfpslqkdscgslqsvftlnrqpl|svavpaalagrglasdrgeegaavlaaca

LH00995:48:23YTGFLT4:5:1482:12326:29081,LH00995:48:23YTGFLT4:5:2166:32753:19426,LH00995:48:23YTGFLT4:3:2420:16994:5134,LH00995:48:23YTGFLT4:3:2420:17010:5134,LH00995:48:23YTGFLT4:7:1325:15651:4657

MUC16

-/-

chr19:8899972

chr19:8905069

CDS/splice-site

duplication/non-canonical_splicing

2731

1407

low

in-frame

SEA_domain(38%)|SEA_domain(74%)

ENSG00000181143.15

ENST00000397910.8

upstream

downstream

duplicates(257),mismatches(30),multimappers(9)

GTTTCACCCATTGGATCCCTGTGCCCACCAGCAGCA___CTCCTGGGACCTCCACAGTGGACCTTGGGACCTCAGGGACTCCATCCTCCCTtCCCAGCCCCACAA|CTGCTGGCCCTCTCCTGGTGCCGTTCACCCTCAACTTCACCATCACCAACCTGAAGTACGAGGAGGACATGCATcaCCCTGGCTCCAGGA

FTHWIPVPTSSTPGTSTVDLGTSGTPSSLPSPT|tAGPLLVPFTLNFTITNLKYEEDMHhPGSR

LH00995:48:23YTGFLT4:1:1139:31807:18235,LH00995:48:23YTGFLT4:1:1173:29679:12728,LH00995:48:23YTGFLT4:1:1173:29679:12728,LH00995:48:23YTGFLT4:1:1183:1437:8735,LH00995:48:23YTGFLT4:1:1183:1437:8735,LH00995:48:23YTGFLT4:1:1186:47631:19076,LH00995:48:23YTGFLT4:1:1195:45738:15937,LH00995:48:23YTGFLT4:1:1196:2990:18431,LH00995:48:23YTGFLT4:1:1196:2990:18431,LH00995:48:23YTGFLT4:1:1219:43990:10108,LH00995:48:23YTGFLT4:1:1219:43990:10108,LH00995:48:23YTGFLT4:1:1231:29153:8286,LH00995:48:23YTGFLT4:1:1245:46021:29543,LH00995:48:23YTGFLT4:1:1276:18240:19370,LH00995:48:23YTGFLT4:1:1297:35714:5666,LH00995:48:23YTGFLT4:1:1315:45058:7698,LH00995:48:23YTGFLT4:1:1327:41062:26642,LH00995:48:23YTGFLT4:1:1369:25027:26614,LH00995:48:23YTGFLT4:1:1371:16970:8090,LH00995:48:23YTGFLT4:1:1458:14842:26096,LH00995:48:23YTGFLT4:1:1487:3144:28926,LH00995:48:23YTGFLT4:1:2125:51385:4223,LH00995:48:23YTGFLT4:1:2183:28789:1546,LH00995:48:23YTGFLT4:1:2195:41612:11173,LH00995:48:23YTGFLT4:1:2214:10821:11117,LH00995:48:23YTGFLT4:1:2215:26378:3200,LH00995:48:23YTGFLT4:1:2224:2505:6661,LH00995:48:23YTGFLT4:1:2228:26095:27735,LH00995:48:23YTGFLT4:1:2245:7294:5008,LH00995:48:23YTGFLT4:1:2253:45099:22621,LH00995:48:23YTGFLT4:1:2319:21856:26839,LH00995:48:23YTGFLT4:1:2320:25594:28492,LH00995:48:23YTGFLT4:1:2324:21783:1210,LH00995:48:23YTGFLT4:1:2342:47606:26937,LH00995:48:23YTGFLT4:1:2342:47606:26937,LH00995:48:23YTGFLT4:1:2347:11363:2639,LH00995:48:23YTGFLT4:1:2347:11363:2639,LH00995:48:23YTGFLT4:1:2357:49556:9716,LH00995:48:23YTGFLT4:1:2359:38157:22509,LH00995:48:23YTGFLT4:1:2407:4543:20757,LH00995:48:23YTGFLT4:1:2426:2294:27792,LH00995:48:23YTGFLT4:1:2435:6873:15293,LH00995:48:23YTGFLT4:1:2482:14583:20743,LH00995:48:23YTGFLT4:1:2491:13491:11649,LH00995:48:23YTGFLT4:2:1103:6825:27091,LH00995:48:23YTGFLT4:2:1158:44443:21990,LH00995:48:23YTGFLT4:2:1165:51077:25017,LH00995:48:23YTGFLT4:2:1212:38246:11313,LH00995:48:23YTGFLT4:2:1221:42922:23167,LH00995:48:23YTGFLT4:2:1238:17140:1266,LH00995:48:23YTGFLT4:2:1257:44929:11817,LH00995:48:23YTGFLT4:2:1267:6792:17478,LH00995:48:23YTGFLT4:2:1362:5053:13233,LH00995:48:23YTGFLT4:2:1429:40293:16231,LH00995:48:23YTGFLT4:2:1467:3969:6899,LH00995:48:23YTGFLT4:2:1470:34274:1378,LH00995:48:23YTGFLT4:2:1470:34274:1378,LH00995:48:23YTGFLT4:2:1470:34274:1378,LH00995:48:23YTGFLT4:2:1478:40900:23364,LH00995:48:23YTGFLT4:2:1495:22325:11846,LH00995:48:23YTGFLT4:2:2136:42623:16904,LH00995:48:23YTGFLT4:2:2179:27228:5176,LH00995:48:23YTGFLT4:2:2189:11282:24190,LH00995:48:23YTGFLT4:2:2190:1720:3200,LH00995:48:23YTGFLT4:2:2244:5441:13261,LH00995:48:23YTGFLT4:2:2244:5441:13261,LH00995:48:23YTGFLT4:2:2244:5458:13261,LH00995:48:23YTGFLT4:2:2244:5458:13261,LH00995:48:23YTGFLT4:2:2244:5466:13247,LH00995:48:23YTGFLT4:2:2244:5466:13247,LH00995:48:23YTGFLT4:2:2247:29396:6325,LH00995:48:23YTGFLT4:2:2249:7448:9281,LH00995:48:23YTGFLT4:2:2267:47501:1392,LH00995:48:23YTGFLT4:2:2267:47509:1406,LH00995:48:23YTGFLT4:2:2271:19607:13219,LH00995:48:23YTGFLT4:2:2295:32972:4867,LH00995:48:23YTGFLT4:2:2406:46886:14368,LH00995:48:23YTGFLT4:2:2414:36912:29431,LH00995:48:23YTGFLT4:3:1152:28538:12490,LH00995:48:23YTGFLT4:3:1194:2723:4321,LH00995:48:23YTGFLT4:3:1195:26330:28366,LH00995:48:23YTGFLT4:3:1195:26330:28366,LH00995:48:23YTGFLT4:3:1195:26338:28380,LH00995:48:23YTGFLT4:3:1195:26338:28380,LH00995:48:23YTGFLT4:3:1216:32753:7123,LH00995:48:23YTGFLT4:3:1220:46822:27343,LH00995:48:23YTGFLT4:3:1298:39452:15419,LH00995:48:23YTGFLT4:3:1298:39452:15419,LH00995:48:23YTGFLT4:3:1298:39460:15433,LH00995:48:23YTGFLT4:3:1298:39460:15433,LH00995:48:23YTGFLT4:3:1323:31839:22747,LH00995:48:23YTGFLT4:3:1335:48043:2611,LH00995:48:23YTGFLT4:3:1378:14268:25101,LH00995:48:23YTGFLT4:3:1378:14268:25101,LH00995:48:23YTGFLT4:3:1379:27915:8721,LH00995:48:23YTGFLT4:3:1380:28741:9113,LH00995:48:23YTGFLT4:3:1380:28741:9113,LH00995:48:23YTGFLT4:3:1381:21565:20225,LH00995:48:23YTGFLT4:3:1428:37729:19132,LH00995:48:23YTGFLT4:3:1428:37737:19118,LH00995:48:23YTGFLT4:3:1460:35156:21206,LH00995:48:23YTGFLT4:3:2193:39136:5736,LH00995:48:23YTGFLT4:3:2202:2998:1266,LH00995:48:23YTGFLT4:3:2213:12027:6395,LH00995:48:23YTGFLT4:3:2357:35326:8328,LH00995:48:23YTGFLT4:3:2357:35326:8328,LH00995:48:23YTGFLT4:3:2420:34112:12896,LH00995:48:23YTGFLT4:3:2432:4519:14886,LH00995:48:23YTGFLT4:3:2434:21791:4223,LH00995:48:23YTGFLT4:3:2476:15845:8553,LH00995:48:23YTGFLT4:3:2484:3257:21780,LH00995:48:23YTGFLT4:4:1116:17601:26194,LH00995:48:23YTGFLT4:4:1117:3912:24064,LH00995:48:23YTGFLT4:4:1117:3912:24064,LH00995:48:23YTGFLT4:4:1125:29072:19104,LH00995:48:23YTGFLT4:4:1125:29072:19104,LH00995:48:23YTGFLT4:4:1151:19000:21556,LH00995:48:23YTGFLT4:4:1153:12642:12252,LH00995:48:23YTGFLT4:4:1204:38635:5148,LH00995:48:23YTGFLT4:4:1207:33085:8427,LH00995:48:23YTGFLT4:4:1225:1809:9856,LH00995:48:23YTGFLT4:4:1225:1809:9856,LH00995:48:23YTGFLT4:4:1284:21241:8735,LH00995:48:23YTGFLT4:4:1328:4398:15461,LH00995:48:23YTGFLT4:4:1328:4398:15461,LH00995:48:23YTGFLT4:4:1355:36547:14228,LH00995:48:23YTGFLT4:4:1404:22333:272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ARHGEF35

-/-

chr7:144188356

chr7:144188377

CDS

duplication/ITD

116

151

low

out-of-frame

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

ENSG00000213214.5

ENST00000378115.3

upstream

downstream

duplicates(63),low_entropy(1)

GGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAG

MEAEEAQrG|g*

LH00995:48:23YTGFLT4:1:1162:11598:5904,LH00995:48:23YTGFLT4:1:1162:11598:5904,LH00995:48:23YTGFLT4:1:1262:8653:24148,LH00995:48:23YTGFLT4:1:1262:8653:24148,LH00995:48:23YTGFLT4:1:1276:21306:16077,LH00995:48:23YTGFLT4:1:1276:21306:16077,LH00995:48:23YTGFLT4:1:1306:36208:17086,LH00995:48:23YTGFLT4:1:1306:36208:17086,LH00995:48:23YTGFLT4:1:1342:29938:8300,LH00995:48:23YTGFLT4:1:1342:29938:8300,LH00995:48:23YTGFLT4:1:1393:37874:7670,LH00995:48:23YTGFLT4:1:1393:37874:7670,LH00995:48:23YTGFLT4:1:2107:23498:14410,LH00995:48:23YTGFLT4:1:2107:23498:14410,LH00995:48:23YTGFLT4:1:2315:36628:18319,LH00995:48:23YTGFLT4:1:2315:36628:18319,LH00995:48:23YTGFLT4:1:2446:41256:14116,LH00995:48:23YTGFLT4:1:2446:41256:14116,LH00995:48:23YTGFLT4:1:2447:33498:2976,LH00995:48:23YTGFLT4:1:2447:33498:2976,LH00995:48:23YTGFLT4:1:2455:44548:22341,LH00995:48:23YTGFLT4:1:2455:44557:22327,LH00995:48:23YTGFLT4:2:1151:5992:7936,LH00995:48:23YTGFLT4:2:1261:31960:27777,LH00995:48:23YTGFLT4:2:1261:31960:27777,LH00995:48:23YTGFLT4:2:1414:20918:14480,LH00995:48:23YTGFLT4:2:1414:20918:14480,LH00995:48:23YTGFLT4:2:2220:1639:22201,LH00995:48:23YTGFLT4:2:2220:1639:22201,LH00995:48:23YTGFLT4:2:2404:28279:16470,LH00995:48:23YTGFLT4:2:2458:48173:15727,LH00995:48:23YTGFLT4:3:1209:27390:7390,LH00995:48:23YTGFLT4:3:1209:27390:7390,LH00995:48:23YTGFLT4:3:1434:21322:26979,LH00995:48:23YTGFLT4:3:1434:21322:26979,LH00995:48:23YTGFLT4:3:1482:46013:5064,LH00995:48:23YTGFLT4:3:1482:46013:5064,LH00995:48:23YTGFLT4:3:2111:16250:19230,LH00995:48:23YTGFLT4:3:2111:16250:19230,LH00995:48:23YTGFLT4:3:2362:23070:19636,LH00995:48:23YTGFLT4:3:2383:35512:3550,LH00995:48:23YTGFLT4:3:2383:35512:3550,LH00995:48:23YTGFLT4:3:2423:40714:3368,LH00995:48:23YTGFLT4:3:2485:36903:11565,LH00995:48:23YTGFLT4:3:2485:36903:11565,LH00995:48:23YTGFLT4:4:1175:43634:23195,LH00995:48:23YTGFLT4:4:1302:45568:28478,LH00995:48:23YTGFLT4:4:1302:45568:28478,LH00995:48:23YTGFLT4:4:1437:5441:7320,LH00995:48:23YTGFLT4:4:1437:5441:7320,LH00995:48:23YTGFLT4:4:2172:17754:28030,LH00995:48:23YTGFLT4:4:2172:17754:28030,LH00995:48:23YTGFLT4:4:2232:21176:7894,LH00995:48:23YTGFLT4:4:2232:21176:7894,LH00995:48:23YTGFLT4:4:2270:10918:9884,LH00995:48:23YTGFLT4:4:2270:10918:9884,LH00995:48:23YTGFLT4:4:2459:18798:17422,LH00995:48:23YTGFLT4:4:2459:18798:17422,LH00995:48:23YTGFLT4:5:2159:47736:24443,LH00995:48:23YTGFLT4:5:2159:47736:24443,LH00995:48:23YTGFLT4:5:2329:20060:9968,LH00995:48:23YTGFLT4:5:2344:38788:17212,LH00995:48:23YTGFLT4:5:2408:39719:13611,LH00995:48:23YTGFLT4:6:1118:13628:18333,LH00995:48:23YTGFLT4:6:1123:10797:11579,LH00995:48:23YTGFLT4:6:1123:10797:11579,LH00995:48:23YTGFLT4:6:1225:7561:16848,LH00995:48:23YTGFLT4:6:1225:7561:16848,LH00995:48:23YTGFLT4:6:1225:7569:16834,LH00995:48:23YTGFLT4:6:1225:7569:16834,LH00995:48:23YTGFLT4:6:1354:31232:18641,LH00995:48:23YTGFLT4:6:1361:49945:11229,LH00995:48:23YTGFLT4:6:1361:49945:11229,LH00995:48:23YTGFLT4:6:1430:14559:20421,LH00995:48:23YTGFLT4:6:1430:14559:20421,LH00995:48:23YTGFLT4:6:2103:36661:13051,LH00995:48:23YTGFLT4:6:2142:5369:20085,LH00995:48:23YTGFLT4:6:2190:45762:19762,LH00995:48:23YTGFLT4:6:2190:45762:19762,LH00995:48:23YTGFLT4:6:2438:41523:20911,LH00995:48:23YTGFLT4:7:1119:40414:7866,LH00995:48:23YTGFLT4:7:1195:22058:12140,LH00995:48:23YTGFLT4:7:1195:22058:12140,LH00995:48:23YTGFLT4:7:2314:28288:20911,LH00995:48:23YTGFLT4:7:2346:29509:18431,LH00995:48:23YTGFLT4:8:1112:11857:19440,LH00995:48:23YTGFLT4:8:1112:11857:19440,LH00995:48:23YTGFLT4:8:1131:1057:3368,LH00995:48:23YTGFLT4:8:1131:1057:3368,LH00995:48:23YTGFLT4:8:1276:25763:21164,LH00995:48:23YTGFLT4:8:1276:25763:21164,LH00995:48:23YTGFLT4:8:1466:8119:18712,LH00995:48:23YTGFLT4:8:2126:39581:3985,LH00995:48:23YTGFLT4:8:2126:39581:3985,LH00995:48:23YTGFLT4:8:2314:37534:2345,LH00995:48:23YTGFLT4:8:2314:37534:2345,LH00995:48:23YTGFLT4:8:2354:43189:6619,LH00995:48:23YTGFLT4:8:2354:43189:6619,LH00995:48:23YTGFLT4:8:2375:17617:15349,LH00995:48:23YTGFLT4:8:2375:17617:15349,LH00995:48:23YTGFLT4:8:2381:22511:29347,LH00995:48:23YTGFLT4:8:2381:22511:29347,LH00995:48:23YTGFLT4:4:2461:17568:6829,LH00995:48:23YTGFLT4:8:2354:43189:6619

PGR

-/-

chr11:101041945

chr11:101126158

CDS/splice-site

duplication/non-canonical_splicing

6203

17197

low

out-of-frame

Ligand-binding_domain_of_nuclear_hormone_receptor(97%),Progesterone_receptor(100%),Zinc_finger__C4_type_(two_domains)(100%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),Progesterone_receptor(3%),Zinc_finger__C4_type_(two_domains)(100%)

ENSG00000082175.15

ENST00000325455.10

upstream

downstream

duplicates(19),mismatches(2)

GTCAAACCCAGTTTGAGGAGATGAGGTCAAGCTACATTAGAGAGCTCATCAAGGCAATTGGTTTGAGGCAAAAAGGAGTTGTGTCGAGCTCACAGCGTTTCTATCAACTTACAAAACTTCTTGATAACTTGCATGAT|GCCGGATTCAGAAGCCAGCCAGAGCCCACAATACAGCTTCGAGTCATTACCTCAGAAGATTTGTTTAATCTGTGGGGATGAAGCATCAGGCTGTCATTATGGTGTCCTTACCTGTGGGAGCTGTAAGGTCT

QTQFEEMRSSYIRELIKAIGLRQKGVVSSSQRFYQLTKLLDNLHD|agfrsqpeptiqlrvitsedlfnlwg*

LH00995:48:23YTGFLT4:1:1457:10546:1981,LH00995:48:23YTGFLT4:1:2134:7181:2429,LH00995:48:23YTGFLT4:1:2173:46029:28632,LH00995:48:23YTGFLT4:1:2452:5563:27707,LH00995:48:23YTGFLT4:1:2462:49378:22131,LH00995:48:23YTGFLT4:2:2111:10870:21122,LH00995:48:23YTGFLT4:2:2176:49669:28548,LH00995:48:23YTGFLT4:2:2465:28134:24709,LH00995:48:23YTGFLT4:3:1261:6097:28884,LH00995:48:23YTGFLT4:3:1457:18669:23672,LH00995:48:23YTGFLT4:3:2284:51773:20337,LH00995:48:23YTGFLT4:4:1121:22309:9716,LH00995:48:23YTGFLT4:4:2177:30051:26404,LH00995:48:23YTGFLT4:4:2192:41248:25311,LH00995:48:23YTGFLT4:4:2354:41604:17296,LH00995:48:23YTGFLT4:4:2370:23061:28422,LH00995:48:23YTGFLT4:5:1247:6064:2625,LH00995:48:23YTGFLT4:5:2261:51797:7376,LH00995:48:23YTGFLT4:5:2427:46660:9519,LH00995:48:23YTGFLT4:6:1118:32502:29249,LH00995:48:23YTGFLT4:6:1121:42340:23195,LH00995:48:23YTGFLT4:6:1121:42348:23209,LH00995:48:23YTGFLT4:6:1184:11614:6717,LH00995:48:23YTGFLT4:6:1208:14834:12714,LH00995:48:23YTGFLT4:6:1235:44451:17184,LH00995:48:23YTGFLT4:6:2203:5377:22845,LH00995:48:23YTGFLT4:6:2350:33328:25157,LH00995:48:23YTGFLT4:7:1336:2359:7446,LH00995:48:23YTGFLT4:7:2298:10757:5260,LH00995:48:23YTGFLT4:7:2406:33109:9449,LH00995:48:23YTGFLT4:8:1340:47016:7558,LH00995:48:23YTGFLT4:8:1393:37712:19244,LH00995:48:23YTGFLT4:1:1116:10069:21136,LH00995:48:23YTGFLT4:1:1273:16662:11089,LH00995:48:23YTGFLT4:1:1347:12164:2681,LH00995:48:23YTGFLT4:1:1491:44055:2625,LH00995:48:23YTGFLT4:1:2327:47979:19202,LH00995:48:23YTGFLT4:1:2497:1744:23532,LH00995:48:23YTGFLT4:2:2180:5668:6927,LH00995:48:23YTGFLT4:2:2262:46539:26657,LH00995:48:23YTGFLT4:3:1488:3759:14242,LH00995:48:23YTGFLT4:4:1422:20303:8875,LH00995:48:23YTGFLT4:4:1462:35585:21584,LH00995:48:23YTGFLT4:4:2154:9017:6535,LH00995:48:23YTGFLT4:4:2476:12625:27777,LH00995:48:23YTGFLT4:5:2281:45333:18263,LH00995:48:23YTGFLT4:6:1325:50147:1939,LH00995:48:23YTGFLT4:6:2434:44176:29599,LH00995:48:23YTGFLT4:8:1135:25472:12896,LH00995:48:23YTGFLT4:8:1173:42558:27385,LH00995:48:23YTGFLT4:8:1387:32017:1392,LH00995:48:23YTGFLT4:8:2325:43230:17787

POLR2A

FP236383.3

+/+

chr17:7513253

chr21:8399953

CDS

intron

translocation

20297

7631

low

out-of-frame

RNA_polymerase_Rpb1_C-terminal_repeat_(16%),RNA_polymerase_Rpb1__domain_1(100%),RNA_polymerase_Rpb1__domain_2(100%),RNA_polymerase_Rpb1__domain_3(100%),RNA_polymerase_Rpb1__domain_4(100%),RNA_polymerase_Rpb1__domain_5(100%),RNA_polymerase_Rpb1__domain_6(100%),RNA_polymerase_Rpb1__domain_7(100%)|

ENSG00000181222.19

ENSG00000280441.3

ENST00000674977.2

downstream

upstream

duplicates(28)

TCCTACTCCCCTACCTCTCCATCCTATTCTCCAACCAGTCCCAACTATAGTCCCACATCACCCAGCTATTCGCCAACGTCACCCAGCTACTCACCGACCTCTCCCAGCTACTCACCCACCTCTCCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

SYSPTSPSYSPTSPNYSPTSPSYSPTSPSYSPTSPSYSPTSPS|papslslsp

LH00995:48:23YTGFLT4:1:1124:29477:20897,LH00995:48:23YTGFLT4:1:2152:5725:27175,LH00995:48:23YTGFLT4:1:2196:17520:11565,LH00995:48:23YTGFLT4:1:2203:18758:23378,LH00995:48:23YTGFLT4:1:2204:9050:19342,LH00995:48:23YTGFLT4:1:2360:1235:16904,LH00995:48:23YTGFLT4:2:1104:42049:7502,LH00995:48:23YTGFLT4:2:1320:26548:14116,LH00995:48:23YTGFLT4:2:1462:26249:12112,LH00995:48:23YTGFLT4:2:2231:22269:21724,LH00995:48:23YTGFLT4:2:2249:50470:5638,LH00995:48:23YTGFLT4:2:2496:25270:27735,LH00995:48:23YTGFLT4:3:1179:46838:6549,LH00995:48:23YTGFLT4:3:1211:14559:16077,LH00995:48:23YTGFLT4:3:1211:14567:16091,LH00995:48:23YTGFLT4:3:1317:46886:28548,LH00995:48:23YTGFLT4:3:2149:24760:27777,LH00995:48:23YTGFLT4:3:2427:31888:24120,LH00995:48:23YTGFLT4:4:1427:38910:11565,LH00995:48:23YTGFLT4:4:2428:34031:19959,LH00995:48:23YTGFLT4:4:2473:20893:28366,LH00995:48:23YTGFLT4:4:2486:18256:29319,LH00995:48:23YTGFLT4:5:1158:15303:17030,LH00995:48:23YTGFLT4:5:1170:17601:18796,LH00995:48:23YTGFLT4:5:1225:40172:6269,LH00995:48:23YTGFLT4:5:1290:3920:23938,LH00995:48:23YTGFLT4:5:2120:48747:2261,LH00995:48:23YTGFLT4:5:2164:49847:28969,LH00995:48:23YTGFLT4:5:2255:26718:24358,LH00995:48:23YTGFLT4:5:2286:21824:12938,LH00995:48:23YTGFLT4:5:2369:42793:7418,LH00995:48:23YTGFLT4:5:2445:40698:21276,LH00995:48:23YTGFLT4:6:1268:21710:25858,LH00995:48:23YTGFLT4:6:1333:49233:23195,LH00995:48:23YTGFLT4:6:2136:27802:10514,LH00995:48:23YTGFLT4:6:2157:12933:7095,LH00995:48:23YTGFLT4:6:2246:17617:22607,LH00995:48:23YTGFLT4:7:1159:10085:22929,LH00995:48:23YTGFLT4:7:1286:49095:29319,LH00995:48:23YTGFLT4:7:1345:4794:20379,LH00995:48:23YTGFLT4:7:1361:51522:11439,LH00995:48:23YTGFLT4:7:2108:33821:16736,LH00995:48:23YTGFLT4:7:2195:3152:9576,LH00995:48:23YTGFLT4:7:2346:20278:16231,LH00995:48:23YTGFLT4:8:1313:14737:27063,LH00995:48:23YTGFLT4:8:1349:9236:23167,LH00995:48:23YTGFLT4:8:1426:43222:20631,LH00995:48:23YTGFLT4:8:2328:1146:15853,LH00995:48:23YTGFLT4:8:2363:36717:14914,LH00995:48:23YTGFLT4:8:2391:31483:16722,LH00995:48:23YTGFLT4:8:2396:49370:9309

NF1

+/+

chr17:31226511

chr17:31226448

CDS

duplication/ITD

532

611

low

out-of-frame

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

ENSG00000196712.18

ENST00000356175.7

downstream

upstream

duplicates(41)

GGAAGGGAAAAGGGAACTCCTCTATG___GATAGTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACAT|GtTtCtGtGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCC

KGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYm|flwnppdlptspdqtrsg

LH00995:48:23YTGFLT4:3:1439:44969:23826,LH00995:48:23YTGFLT4:3:2134:42914:17885,LH00995:48:23YTGFLT4:3:2145:42534:10360,LH00995:48:23YTGFLT4:4:1248:27778:20841,LH00995:48:23YTGFLT4:4:2132:40180:22509,LH00995:48:23YTGFLT4:5:2378:5644:21066,LH00995:48:23YTGFLT4:7:1107:43570:5232,LH00995:48:23YTGFLT4:7:1180:38449:25648,LH00995:48:23YTGFLT4:7:2128:32664:5428,LH00995:48:23YTGFLT4:7:2404:34193:29291,LH00995:48:23YTGFLT4:7:2404:34201:29305,LH00995:48:23YTGFLT4:8:1466:8597:27862,LH00995:48:23YTGFLT4:8:1466:8605:27848,LH00995:48:23YTGFLT4:1:1182:9098:21024,LH00995:48:23YTGFLT4:1:1182:9098:21024,LH00995:48:23YTGFLT4:1:2156:31548:17647,LH00995:48:23YTGFLT4:1:2156:31548:17647,LH00995:48:23YTGFLT4:1:2210:7197:10921,LH00995:48:23YTGFLT4:1:2210:7197:10921,LH00995:48:23YTGFLT4:1:2424:43238:27890,LH00995:48:23YTGFLT4:1:2424:43238:27890,LH00995:48:23YTGFLT4:2:1169:48496:3480,LH00995:48:23YTGFLT4:2:1169:48496:3480,LH00995:48:23YTGFLT4:3:1439:44969:23826,LH00995:48:23YTGFLT4:3:2134:42914:17885,LH00995:48:23YTGFLT4:3:2145:42534:10360,LH00995:48:23YTGFLT4:3:2172:6970:1981,LH00995:48:23YTGFLT4:3:2172:6970:1981,LH00995:48:23YTGFLT4:3:2468:19405:13401,LH00995:48:23YTGFLT4:3:2468:19405:13401,LH00995:48:23YTGFLT4:4:1248:27778:20841,LH00995:48:23YTGFLT4:4:1270:48780:2738,LH00995:48:23YTGFLT4:4:1270:48780:2738,LH00995:48:23YTGFLT4:4:2132:40180:22509,LH00995:48:23YTGFLT4:4:2305:38829:15937,LH00995:48:23YTGFLT4:4:2305:38829:15937,LH00995:48:23YTGFLT4:5:1228:7100:20393,LH00995:48:23YTGFLT4:5:1228:7100:20393,LH00995:48:23YTGFLT4:5:2378:5644:21066,LH00995:48:23YTGFLT4:6:1143:15255:13863,LH00995:48:23YTGFLT4:6:1143:15255:13863,LH00995:48:23YTGFLT4:6:1196:4171:12126,LH00995:48:23YTGFLT4:6:1196:4171:12126,LH00995:48:23YTGFLT4:6:2350:36725:17535,LH00995:48:23YTGFLT4:6:2350:36725:17535,LH00995:48:23YTGFLT4:6:2444:4252:2485,LH00995:48:23YTGFLT4:6:2444:4252:2485,LH00995:48:23YTGFLT4:7:1107:43570:5232,LH00995:48:23YTGFLT4:7:1180:38449:25648,LH00995:48:23YTGFLT4:7:1446:10506:27777,LH00995:48:23YTGFLT4:7:1446:10506:27777,LH00995:48:23YTGFLT4:7:1446:10514:27763,LH00995:48:23YTGFLT4:7:1446:10514:27763,LH00995:48:23YTGFLT4:7:2128:32664:5428,LH00995:48:23YTGFLT4:7:2339:29986:7235,LH00995:48:23YTGFLT4:7:2339:29986:7235,LH00995:48:23YTGFLT4:7:2339:30003:7235,LH00995:48:23YTGFLT4:7:2339:30003:7235,LH00995:48:23YTGFLT4:7:2404:34193:29291,LH00995:48:23YTGFLT4:7:2404:34201:29305,LH00995:48:23YTGFLT4:7:2447:11808:4559,LH00995:48:23YTGFLT4:7:2447:11808:4559,LH00995:48:23YTGFLT4:8:1275:17301:13037,LH00995:48:23YTGFLT4:8:1275:17301:13037,LH00995:48:23YTGFLT4:8:1411:25189:21710,LH00995:48:23YTGFLT4:8:1411:25189:21710,LH00995:48:23YTGFLT4:8:1466:8597:27862,LH00995:48:23YTGFLT4:8:1466:8605:27848

ATN1

FP671120.4

+/+

chr12:6936427

chr21:8214653

CDS

intron

translocation

13969

1846

low

out-of-frame

Atrophin-1_family(16%)|

ENSG00000111676.15

ENSG00000278996.1

ENST00000356654.8

downstream

upstream

duplicates(27),mismatches(18)

GGGACAGGGTATGGGTGGACTTCCTCCTGGCCCAGAGAAGGGCCCAACTCTGGCTCCTTCACCCCACTCTCTGCCTCCTGCTTCCTCTTCTGCTCCAGCGCCCCCCATGAGGTTTCCTTATTCATCCTCTAGTAGTAGCTCTGCAGCAGCCTCCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

GQGMGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASs|svrpsvlll

LH00995:48:23YTGFLT4:1:1258:32705:2499,LH00995:48:23YTGFLT4:1:1361:7440:8146,LH00995:48:23YTGFLT4:1:1371:31006:26152,LH00995:48:23YTGFLT4:1:1371:39646:28702,LH00995:48:23YTGFLT4:1:1388:7553:23223,LH00995:48:23YTGFLT4:1:1476:8168:10612,LH00995:48:23YTGFLT4:1:2129:26103:8328,LH00995:48:23YTGFLT4:1:2129:26111:8342,LH00995:48:23YTGFLT4:1:2136:47291:4531,LH00995:48:23YTGFLT4:1:2243:21638:8188,LH00995:48:23YTGFLT4:1:2336:47841:22411,LH00995:48:23YTGFLT4:2:1173:5814:22761,LH00995:48:23YTGFLT4:2:1329:4964:1168,LH00995:48:23YTGFLT4:2:1348:10570:13149,LH00995:48:23YTGFLT4:2:1348:10587:13149,LH00995:48:23YTGFLT4:2:1422:20287:19692,LH00995:48:23YTGFLT4:2:1422:20303:19692,LH00995:48:23YTGFLT4:2:2117:34994:13695,LH00995:48:23YTGFLT4:2:2436:21435:9043,LH00995:48:23YTGFLT4:2:2436:21557:8188,LH00995:48:23YTGFLT4:2:2455:21241:12238,LH00995:48:23YTGFLT4:3:1145:37793:19160,LH00995:48:23YTGFLT4:3:1197:1825:10108,LH00995:48:23YTGFLT4:3:1284:9875:12196,LH00995:48:23YTGFLT4:3:1448:49192:11523,LH00995:48:23YTGFLT4:3:1462:23790:11215,LH00995:48:23YTGFLT4:3:2323:21306:10977,LH00995:48:23YTGFLT4:3:2333:12682:15797,LH00995:48:23YTGFLT4:3:2405:43691:16988,LH00995:48:23YTGFLT4:3:2414:11671:12196,LH00995:48:23YTGFLT4:4:1207:39703:6605,LH00995:48:23YTGFLT4:4:1270:44225:18025,LH00995:48:23YTGFLT4:4:1287:18216:2766,LH00995:48:23YTGFLT4:4:1360:32567:12462,LH00995:48:23YTGFLT4:4:1473:1979:15363,LH00995:48:23YTGFLT4:4:1473:1987:15349,LH00995:48:23YTGFLT4:4:2397:5579:10781,LH00995:48:23YTGFLT4:4:2405:29129:9562,LH00995:48:23YTGFLT4:4:2447:38182:3466,LH00995:48:23YTGFLT4:4:2450:44516:24779,LH00995:48:23YTGFLT4:5:1155:47331:16035,LH00995:48:23YTGFLT4:5:1221:9187:26166,LH00995:48:23YTGFLT4:5:1276:31831:29347,LH00995:48:23YTGFLT4:5:1375:1866:18613,LH00995:48:23YTGFLT4:5:2213:46377:25900,LH00995:48:23YTGFLT4:5:2215:1898:17044,LH00995:48:23YTGFLT4:5:2235:16727:3606,LH00995:48:23YTGFLT4:5:2265:13709:14354,LH00995:48:23YTGFLT4:5:2317:18110:12868,LH00995:48:23YTGFLT4:5:2354:31394:1939,LH00995:48:23YTGFLT4:5:2432:31208:20617,LH00995:48:23YTGFLT4:6:1239:45398:6325,LH00995:48:23YTGFLT4:6:1408:20092:13555,LH00995:48:23YTGFLT4:6:1432:43060:27413,LH00995:48:23YTGFLT4:6:2419:41418:1280,LH00995:48:23YTGFLT4:7:1283:1518:12798,LH00995:48:23YTGFLT4:7:2193:33069:14508,LH00995:48:23YTGFLT4:7:2325:12690:26572,LH00995:48:23YTGFLT4:7:2380:42930:16035,LH00995:48:23YTGFLT4:7:2386:14971:22201,LH00995:48:23YTGFLT4:7:2459:33651:18852,LH00995:48:23YTGFLT4:8:1246:8095:27077,LH00995:48:23YTGFLT4:8:1247:6097:14228,LH00995:48:23YTGFLT4:8:1468:49856:19650,LH00995:48:23YTGFLT4:8:2124:2359:7053,LH00995:48:23YTGFLT4:8:2159:36418:1420,LH00995:48:23YTGFLT4:8:2193:37373:18964,LH00995:48:23YTGFLT4:8:2260:15538:5610,LH00995:48:23YTGFLT4:8:2387:50834:20869,LH00995:48:23YTGFLT4:8:2428:19413:23784,LH00995:48:23YTGFLT4:1:2285:7415:13233

LENG8

FP236383.3

+/+

chr19:54458670

chr21:8399955

CDS

intron

translocation

12595

7631

low

out-of-frame

SAC3/GANP_family(84%)|

ENSG00000167615.17

ENSG00000280441.3

ENST00000376514.6

downstream

upstream

duplicates(20),mismatches(2)

GCTCCCTTCTGCCTTTGCTCTTCCCATCCTTCCGCCTCGCACCGCCCCTCAGACCAGCTCCTGGCCGCAGGCCTCCCCCAGCCCCCAACCCTTGTCCTGGTCCTTGCTTCCCCATCATCTTTCTCCATTCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCC

SLLPLLFPSFRLAPPLRPAPGRRPPPAPNPCPGPCFPIIFLHSA|prplslslp

LH00995:48:23YTGFLT4:1:1297:33684:26614,LH00995:48:23YTGFLT4:1:1351:28595:12756,LH00995:48:23YTGFLT4:1:1439:44500:9786,LH00995:48:23YTGFLT4:1:2160:24477:29277,LH00995:48:23YTGFLT4:1:2160:25254:29305,LH00995:48:23YTGFLT4:1:2276:2319:23490,LH00995:48:23YTGFLT4:1:2315:46344:10486,LH00995:48:23YTGFLT4:2:1118:39298:24176,LH00995:48:23YTGFLT4:2:1176:43108:11047,LH00995:48:23YTGFLT4:2:1176:50794:28842,LH00995:48:23YTGFLT4:2:1334:32041:22481,LH00995:48:23YTGFLT4:2:1389:12253:20799,LH00995:48:23YTGFLT4:2:2226:47073:8413,LH00995:48:23YTGFLT4:2:2421:6404:28044,LH00995:48:23YTGFLT4:3:1377:48262:18740,LH00995:48:23YTGFLT4:3:1429:22285:9169,LH00995:48:23YTGFLT4:3:2144:16913:1322,LH00995:48:23YTGFLT4:3:2233:13564:22313,LH00995:48:23YTGFLT4:3:2240:19437:21864,LH00995:48:23YTGFLT4:3:2250:24688:16133,LH00995:48:23YTGFLT4:4:1147:19955:4209,LH00995:48:23YTGFLT4:4:1262:47380:7712,LH00995:48:23YTGFLT4:4:1414:16347:14970,LH00995:48:23YTGFLT4:4:1486:32583:5904,LH00995:48:23YTGFLT4:4:1486:32600:5904,LH00995:48:23YTGFLT4:4:2168:13895:9239,LH00995:48:23YTGFLT4:4:2205:40673:26418,LH00995:48:23YTGFLT4:4:2404:33344:20141,LH00995:48:23YTGFLT4:5:1154:22625:16315,LH00995:48:23YTGFLT4:5:2493:25909:11775,LH00995:48:23YTGFLT4:6:1130:27058:23938,LH00995:48:23YTGFLT4:6:1410:52161:9604,LH00995:48:23YTGFLT4:6:2135:37138:9253,LH00995:48:23YTGFLT4:6:2390:33546:2864,LH00995:48:23YTGFLT4:6:2392:20675:12826,LH00995:48:23YTGFLT4:6:2414:12124:14690,LH00995:48:23YTGFLT4:7:1445:47291:18684,LH00995:48:23YTGFLT4:7:1476:42930:17745,LH00995:48:23YTGFLT4:7:2139:24623:28380,LH00995:48:23YTGFLT4:7:2436:51918:21906,LH00995:48:23YTGFLT4:7:2485:10304:20533,LH00995:48:23YTGFLT4:8:1188:21759:2709,LH00995:48:23YTGFLT4:8:1280:41685:19594,LH00995:48:23YTGFLT4:8:2120:41766:27974,LH00995:48:23YTGFLT4:8:2476:13426:17647

PRKAR1A

FP671120.4

+/+

chr17:68530456

chr21:8216919

3'UTR

intron

translocation

11125

4443

low

stop-codon

Cyclic_nucleotide-binding_domain(98%),Regulatory_subunit_of_type_II_PKA_R-subunit(100%)|

ENSG00000108946.15

ENSG00000278996.1

ENST00000392711.5

downstream

upstream

duplicates(46),mismatches(20)

TCGTGGCCCCTTGAAGTGCGTTAAGCTGGACCGACCTAGATTTGAACGTGTTCTTGGCCCATGCTCAGACATCCTCAAACGAAACATCCAGCAGTACAACAGTTTTGTGTCACTGTCTGTCTGAAATCTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1185:49419:8945,LH00995:48:23YTGFLT4:1:1185:49427:8959,LH00995:48:23YTGFLT4:1:1193:7593:22593,LH00995:48:23YTGFLT4:1:1218:32357:1420,LH00995:48:23YTGFLT4:1:1275:8208:7936,LH00995:48:23YTGFLT4:1:1358:3176:2443,LH00995:48:23YTGFLT4:1:1456:47566:26671,LH00995:48:23YTGFLT4:1:2324:36030:8511,LH00995:48:23YTGFLT4:1:2343:26241:21234,LH00995:48:23YTGFLT4:1:2357:25844:7768,LH00995:48:23YTGFLT4:2:1267:31491:24358,LH00995:48:23YTGFLT4:2:1307:32009:6871,LH00995:48:23YTGFLT4:2:1314:33506:25662,LH00995:48:23YTGFLT4:2:1314:33522:25662,LH00995:48:23YTGFLT4:2:1409:45091:19048,LH00995:48:23YTGFLT4:2:2123:34468:21808,LH00995:48:23YTGFLT4:2:2222:6922:23280,LH00995:48:23YTGFLT4:2:2253:7699:15965,LH00995:48:23YTGFLT4:2:2398:19154:8791,LH00995:48:23YTGFLT4:2:2406:2432:17464,LH00995:48:23YTGFLT4:2:2447:30949:10276,LH00995:48:23YTGFLT4:2:2449:23288:12196,LH00995:48:23YTGFLT4:2:2449:23296:12210,LH00995:48:23YTGFLT4:2:2473:49184:13891,LH00995:48:23YTGFLT4:2:2497:8904:25704,LH00995:48:23YTGFLT4:3:1125:51312:25059,LH00995:48:23YTGFLT4:3:1243:30464:22915,LH00995:48:23YTGFLT4:3:1243:36305:17310,LH00995:48:23YTGFLT4:3:1263:16937:4027,LH00995:48:23YTGFLT4:3:1361:9017:7235,LH00995:48:23YTGFLT4:3:2103:40358:18922,LH00995:48:23YTGFLT4:3:2118:23312:15040,LH00995:48:23YTGFLT4:3:2123:33133:22271,LH00995:48:23YTGFLT4:3:2127:20262:21220,LH00995:48:23YTGFLT4:3:2133:16144:17619,LH00995:48:23YTGFLT4:3:2233:24647:28618,LH00995:48:23YTGFLT4:3:2384:25205:24513,LH00995:48:23YTGFLT4:4:1212:48537:14872,LH00995:48:23YTGFLT4:4:1234:48553:29473,LH00995:48:23YTGFLT4:4:1244:39605:3774,LH00995:48:23YTGFLT4:4:1322:11113:24036,LH00995:48:23YTGFLT4:4:1352:35107:24288,LH00995:48:23YTGFLT4:4:1460:24218:28716,LH00995:48:23YTGFLT4:4:1498:32066:14368,LH00995:48:23YTGFLT4:4:2198:13038:7782,LH00995:48:23YTGFLT4:4:2207:15627:18235,LH00995:48:23YTGFLT4:4:2488:37882:13989,LH00995:48:23YTGFLT4:5:1169:47744:29081,LH00995:48:23YTGFLT4:5:1192:16557:27273,LH00995:48:23YTGFLT4:5:1319:2974:26166,LH00995:48:23YTGFLT4:5:1415:51498:23195,LH00995:48:23YTGFLT4:5:1447:3378:27399,LH00995:48:23YTGFLT4:5:1452:42024:1911,LH00995:48:23YTGFLT4:5:2169:43570:27960,LH00995:48:23YTGFLT4:5:2437:43990:21206,LH00995:48:23YTGFLT4:5:2452:20060:7474,LH00995:48:23YTGFLT4:6:1139:16638:19482,LH00995:48:23YTGFLT4:6:1236:15797:8581,LH00995:48:23YTGFLT4:6:1276:18652:20841,LH00995:48:23YTGFLT4:6:1364:21880:10150,LH00995:48:23YTGFLT4:6:2188:18232:4167,LH00995:48:23YTGFLT4:6:2230:1947:29627,LH00995:48:23YTGFLT4:6:2329:9761:20379,LH00995:48:23YTGFLT4:7:1188:36467:14760,LH00995:48:23YTGFLT4:7:1215:32705:3592,LH00995:48:23YTGFLT4:7:1260:46037:6171,LH00995:48:23YTGFLT4:7:1267:21047:16498,LH00995:48:23YTGFLT4:7:1267:21055:16512,LH00995:48:23YTGFLT4:7:1453:18054:1420,LH00995:48:23YTGFLT4:7:1477:17892:23280,LH00995:48:23YTGFLT4:7:1497:27179:10612,LH00995:48:23YTGFLT4:7:2205:1097:3830,LH00995:48:23YTGFLT4:7:2206:28805:14802,LH00995:48:23YTGFLT4:7:2247:51271:27483,LH00995:48:23YTGFLT4:7:2490:23757:23013,LH00995:48:23YTGFLT4:7:2495:41296:25564,LH00995:48:23YTGFLT4:8:1158:14672:24288,LH00995:48:23YTGFLT4:8:1212:13362:3943,LH00995:48:23YTGFLT4:8:1463:46166:8721,LH00995:48:23YTGFLT4:8:1490:51336:16918,LH00995:48:23YTGFLT4:8:2111:17318:9197,LH00995:48:23YTGFLT4:8:2111:17326:9211,LH00995:48:23YTGFLT4:8:2227:6914:27021,LH00995:48:23YTGFLT4:8:2445:35916:25970,LH00995:48:23YTGFLT4:8:2475:14348:16750,LH00995:48:23YTGFLT4:8:2475:17868:10654,LH00995:48:23YTGFLT4:8:2475:33328:1589,LH00995:48:23YTGFLT4:8:2498:14235:26558

ATXN1

FP671120.4

-/-

+/+

chr6:16327524

chr21:8214653

CDS

intron

translocation

3850

1846

low

out-of-frame

ENSG00000124788.19

ENSG00000278996.1

ENST00000436367.6

upstream

duplicates(17),low_entropy(1)

GGGGCTCATCACCCCGGGGTCCCCCCCACCAGCCCAGCAGAACCAGTACGTCCACATTTCCAGTTCTCCGCAGAACACCGGCCGCACCGCCTCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCCC

GLITPGSPPPAQQNQYVHISSSPQNTGRTAS|rpsvrpssss

LH00995:48:23YTGFLT4:1:1242:7456:24877,LH00995:48:23YTGFLT4:1:2329:6202:15307,LH00995:48:23YTGFLT4:1:2454:10530:5036,LH00995:48:23YTGFLT4:1:2475:45026:22383,LH00995:48:23YTGFLT4:2:1127:28466:17156,LH00995:48:23YTGFLT4:2:1301:34129:17717,LH00995:48:23YTGFLT4:2:1306:11509:20631,LH00995:48:23YTGFLT4:2:2140:34064:10430,LH00995:48:23YTGFLT4:3:1397:5789:25858,LH00995:48:23YTGFLT4:3:1469:14446:1729,LH00995:48:23YTGFLT4:3:2319:22309:24933,LH00995:48:23YTGFLT4:4:1282:18029:22901,LH00995:48:23YTGFLT4:4:2187:12731:9155,LH00995:48:23YTGFLT4:4:2328:37664:24232,LH00995:48:23YTGFLT4:4:2451:46700:8525,LH00995:48:23YTGFLT4:5:1111:50915:12798,LH00995:48:23YTGFLT4:5:1112:17576:29459,LH00995:48:23YTGFLT4:5:2225:39549:14830,LH00995:48:23YTGFLT4:5:2242:32988:11705,LH00995:48:23YTGFLT4:5:2391:23676:1659,LH00995:48:23YTGFLT4:5:2391:23692:1659,LH00995:48:23YTGFLT4:6:1170:49038:19580,LH00995:48:23YTGFLT4:6:1323:4818:1084,LH00995:48:23YTGFLT4:6:2425:14874:6675,LH00995:48:23YTGFLT4:6:2425:14882:6689,LH00995:48:23YTGFLT4:6:2436:31038:3060,LH00995:48:23YTGFLT4:6:2482:19008:22103,LH00995:48:23YTGFLT4:6:2482:19016:22088,LH00995:48:23YTGFLT4:7:1159:18474:25213,LH00995:48:23YTGFLT4:7:1202:17172:15839,LH00995:48:23YTGFLT4:7:1204:4115:11495,LH00995:48:23YTGFLT4:7:1305:30294:9954,LH00995:48:23YTGFLT4:7:1410:36151:26292,LH00995:48:23YTGFLT4:7:1437:10999:24036,LH00995:48:23YTGFLT4:7:2141:24291:6479,LH00995:48:23YTGFLT4:7:2285:31742:20477,LH00995:48:23YTGFLT4:8:2306:42227:3438,LH00995:48:23YTGFLT4:8:2466:35593:10612,LH00995:48:23YTGFLT4:8:2466:35609:10612,LH00995:48:23YTGFLT4:8:2478:49224:10935

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

7675

7631

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(22),mismatches(2),multimappers(1)

TGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

SSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslslp

LH00995:48:23YTGFLT4:1:1158:27972:8819,LH00995:48:23YTGFLT4:1:1270:23814:1589,LH00995:48:23YTGFLT4:1:1372:38392:12658,LH00995:48:23YTGFLT4:1:1394:18272:18305,LH00995:48:23YTGFLT4:1:1411:21807:14676,LH00995:48:23YTGFLT4:1:1444:46660:29613,LH00995:48:23YTGFLT4:1:1444:46676:29613,LH00995:48:23YTGFLT4:1:2187:36507:22397,LH00995:48:23YTGFLT4:1:2324:43618:27231,LH00995:48:23YTGFLT4:3:1122:43246:24008,LH00995:48:23YTGFLT4:3:1151:36628:22551,LH00995:48:23YTGFLT4:3:2275:44969:14662,LH00995:48:23YTGFLT4:3:2424:30092:2317,LH00995:48:23YTGFLT4:3:2430:28457:5596,LH00995:48:23YTGFLT4:4:1485:32511:17633,LH00995:48:23YTGFLT4:4:2131:38093:13737,LH00995:48:23YTGFLT4:4:2173:6833:28282,LH00995:48:23YTGFLT4:4:2255:40617:16988,LH00995:48:23YTGFLT4:4:2277:2602:10052,LH00995:48:23YTGFLT4:4:2283:10781:21724,LH00995:48:23YTGFLT4:5:1260:29121:14144,LH00995:48:23YTGFLT4:5:1312:29889:26124,LH00995:48:23YTGFLT4:5:1333:24445:20309,LH00995:48:23YTGFLT4:5:1380:30739:24765,LH00995:48:23YTGFLT4:5:2246:49491:21878,LH00995:48:23YTGFLT4:5:2307:48326:4923,LH00995:48:23YTGFLT4:5:2307:49653:1336,LH00995:48:23YTGFLT4:5:2334:18669:18347,LH00995:48:23YTGFLT4:5:2396:41507:29571,LH00995:48:23YTGFLT4:5:2407:24412:1953,LH00995:48:23YTGFLT4:6:2123:14721:18824,LH00995:48:23YTGFLT4:6:2177:21921:5316,LH00995:48:23YTGFLT4:6:2258:43982:5078,LH00995:48:23YTGFLT4:6:2454:45568:10907,LH00995:48:23YTGFLT4:7:1204:36240:13219,LH00995:48:23YTGFLT4:7:2110:15748:12532,LH00995:48:23YTGFLT4:7:2191:1704:19987,LH00995:48:23YTGFLT4:7:2371:5781:6451,LH00995:48:23YTGFLT4:8:1111:10012:4055,LH00995:48:23YTGFLT4:8:1119:3225:17240,LH00995:48:23YTGFLT4:8:1193:50948:5792,LH00995:48:23YTGFLT4:8:1249:14535:3060,LH00995:48:23YTGFLT4:8:1406:51829:6002,LH00995:48:23YTGFLT4:8:1438:31928:21304,LH00995:48:23YTGFLT4:8:2229:28684:24653

NPEPPS

FP671120.4

+/+

chr17:47531345

chr21:8214653

CDS

intron

translocation

4935

1846

low

out-of-frame

ENSG00000141279.17

ENSG00000278996.1

ENST00000677120.1

downstream

upstream

duplicates(19),mismatches(7)

CCCAGGCTCCCCCGGTCGCTCTCCTCCGGCGGTCGCCCGCGCTCGGTGGATGTGGCTGGCAGCTGCCGCCCCCTCCCTCGCTCGCCGCCTGCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

MWLAAAAPSLARRLL|vrpsvrppp

LH00995:48:23YTGFLT4:1:1174:7423:9211,LH00995:48:23YTGFLT4:1:1228:45414:8062,LH00995:48:23YTGFLT4:1:1411:8742:6255,LH00995:48:23YTGFLT4:1:1411:8758:6255,LH00995:48:23YTGFLT4:1:1482:6105:17633,LH00995:48:23YTGFLT4:1:2209:20926:15811,LH00995:48:23YTGFLT4:1:2362:51854:9660,LH00995:48:23YTGFLT4:2:1118:10223:10921,LH00995:48:23YTGFLT4:2:1159:10959:22929,LH00995:48:23YTGFLT4:2:1159:10975:22929,LH00995:48:23YTGFLT4:2:1459:3370:2303,LH00995:48:23YTGFLT4:2:2185:23377:18599,LH00995:48:23YTGFLT4:2:2202:9130:7488,LH00995:48:23YTGFLT4:2:2226:34994:6157,LH00995:48:23YTGFLT4:2:2393:27721:7880,LH00995:48:23YTGFLT4:2:2481:5369:2681,LH00995:48:23YTGFLT4:3:1279:4365:1560,LH00995:48:23YTGFLT4:3:2197:51304:6016,LH00995:48:23YTGFLT4:3:2469:38085:7165,LH00995:48:23YTGFLT4:4:1180:1445:24919,LH00995:48:23YTGFLT4:4:1215:12027:8300,LH00995:48:23YTGFLT4:4:1417:5312:21052,LH00995:48:23YTGFLT4:4:1419:29736:22131,LH00995:48:23YTGFLT4:4:2378:11735:2471,LH00995:48:23YTGFLT4:4:2414:18563:16820,LH00995:48:23YTGFLT4:4:2442:23506:16498,LH00995:48:23YTGFLT4:5:1344:12132:26362,LH00995:48:23YTGFLT4:5:2113:5401:26502,LH00995:48:23YTGFLT4:5:2378:45139:26811,LH00995:48:23YTGFLT4:6:1301:4349:21626,LH00995:48:23YTGFLT4:6:1378:28757:2667,LH00995:48:23YTGFLT4:6:2110:36976:16315,LH00995:48:23YTGFLT4:6:2185:10522:26516,LH00995:48:23YTGFLT4:6:2427:10409:7544,LH00995:48:23YTGFLT4:6:2462:20367:14087,LH00995:48:23YTGFLT4:7:1143:42243:6577,LH00995:48:23YTGFLT4:7:1272:16937:14648,LH00995:48:23YTGFLT4:7:1362:44411:22299,LH00995:48:23YTGFLT4:7:1405:49831:19973,LH00995:48:23YTGFLT4:7:2425:18135:11509,LH00995:48:23YTGFLT4:8:1201:19065:10038,LH00995:48:23YTGFLT4:8:1222:16298:11775,LH00995:48:23YTGFLT4:8:2119:34913:25297,LH00995:48:23YTGFLT4:8:2239:14753:22607,LH00995:48:23YTGFLT4:8:2307:27284:7852,LH00995:48:23YTGFLT4:8:2423:16096:16049

DES

FP671120.4

+/+

chr2:219426085

chr21:8216919

3'UTR

intron

translocation

9713

4443

low

stop-codon

Intermediate_filament_head_(DNA_binding)_region(100%),Intermediate_filament_protein(100%)|

ENSG00000175084.12

ENSG00000278996.1

ENST00000373960.4

downstream

upstream

duplicates(3)

TGCTCTAAAGACAGAGACCCTCTGCCACCAGAGACCGTCCTCACCCCTGTCCTCACTGCTCCCTGAAGCCAGCCTTCTTCCATCCCAGGACACCACACCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1244:27195:6072,LH00995:48:23YTGFLT4:1:2150:40859:9702,LH00995:48:23YTGFLT4:2:1101:35463:27651,LH00995:48:23YTGFLT4:2:1127:34226:16764,LH00995:48:23YTGFLT4:2:1396:39694:16400,LH00995:48:23YTGFLT4:2:2242:27899:28114,LH00995:48:23YTGFLT4:2:2354:35577:22299,LH00995:48:23YTGFLT4:2:2376:31831:27553,LH00995:48:23YTGFLT4:3:1481:49047:21304,LH00995:48:23YTGFLT4:3:2231:50778:24022,LH00995:48:23YTGFLT4:3:2492:38902:6171,LH00995:48:23YTGFLT4:4:1105:20537:13877,LH00995:48:23YTGFLT4:4:1105:20545:13863,LH00995:48:23YTGFLT4:5:1360:2699:4671,LH00995:48:23YTGFLT4:7:1235:43473:26194,LH00995:48:23YTGFLT4:7:2236:19947:7053,LH00995:48:23YTGFLT4:7:2351:8928:8455,LH00995:48:23YTGFLT4:8:1219:24882:8342,LH00995:48:23YTGFLT4:8:2169:23223:1771,LH00995:48:23YTGFLT4:8:2314:15522:15503

PER1

FP236383.3

-/-

+/+

chr17:8143689

chr21:8399955

CDS

intron

translocation

10977

7631

low

out-of-frame

PAS_fold(100%)|

ENSG00000179094.16

ENSG00000280441.3

ENST00000317276.9

upstream

duplicates(11)

AGCCAAGCGCTCACGCCACCACCAGAACCCTCGGGCTGAAGCGCCCTGCTATGTCTCACACCCCTCACCCGTGCCACCCTCCACCCCCTGGCCCACCCCACCAGCCACTACCCCCTTCCCAGCGGTTGTCCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCC

AKRSRHHQNPRAEAPCYVSHPSPVPPSTPWPTPPATTPFPAVVQP|ralslsls

LH00995:48:23YTGFLT4:1:1208:49322:7348,LH00995:48:23YTGFLT4:1:2366:27519:16245,LH00995:48:23YTGFLT4:2:1116:37583:8959,LH00995:48:23YTGFLT4:2:1257:43553:5204,LH00995:48:23YTGFLT4:2:1325:24898:17422,LH00995:48:23YTGFLT4:2:2343:10579:5624,LH00995:48:23YTGFLT4:3:1172:22050:9968,LH00995:48:23YTGFLT4:3:1319:47906:15797,LH00995:48:23YTGFLT4:3:1392:6081:17563,LH00995:48:23YTGFLT4:3:2417:48788:22901,LH00995:48:23YTGFLT4:4:1363:19607:22187,LH00995:48:23YTGFLT4:4:1446:32527:4489,LH00995:48:23YTGFLT4:4:2240:16015:3774,LH00995:48:23YTGFLT4:5:2105:39751:22159,LH00995:48:23YTGFLT4:6:2122:3791:8777,LH00995:48:23YTGFLT4:6:2175:2424:24905,LH00995:48:23YTGFLT4:6:2202:35512:28997,LH00995:48:23YTGFLT4:6:2208:13580:14662,LH00995:48:23YTGFLT4:6:2256:19712:7964,LH00995:48:23YTGFLT4:6:2288:5555:5050,LH00995:48:23YTGFLT4:6:2305:51700:19482,LH00995:48:23YTGFLT4:6:2494:28563:1182,LH00995:48:23YTGFLT4:7:1350:26249:16091,LH00995:48:23YTGFLT4:7:1350:26257:16077,LH00995:48:23YTGFLT4:7:2379:51385:25325,LH00995:48:23YTGFLT4:8:2252:22641:12644

RUNDC1

+/+

chr17:42981074

chr17:42981069

CDS/splice-site

CDS

duplication/ITD

244

low

in-frame

|RUN_domain(100%)

ENSG00000198863.7

ENST00000361677.5

downstream

upstream

duplicates(9)

CGTCCTAGGTTACGAAGGGCCCGGCGACCCCGCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCAcGGTTGCGGGGCGAGGACCAG|GgCttG___AGTGAGCAGGAAAAGCAAGAGCGTCTGGAAACCCAAAGGGAGAAGCAGAAAGAACTGATACTGCAGCTCAAGACCCAGCTAGATGACCTGGAAACGTTTGCCTATCAAGAGGGC

VLGYEGPGDPASDEGDGLPGDRPrLRGEDQ|glSEQEKQERLETQREKQKELILQLKTQLDDLETFAYQE

LH00995:48:23YTGFLT4:1:1126:26767:16596,LH00995:48:23YTGFLT4:1:1195:10595:29529,LH00995:48:23YTGFLT4:1:1255:22034:16582,LH00995:48:23YTGFLT4:1:1434:41029:2345,LH00995:48:23YTGFLT4:1:2134:36475:19790,LH00995:48:23YTGFLT4:1:2293:48375:8427,LH00995:48:23YTGFLT4:2:1263:36224:23167,LH00995:48:23YTGFLT4:2:1280:31119:18053,LH00995:48:23YTGFLT4:3:1191:37267:5750,LH00995:48:23YTGFLT4:3:2191:20181:20883,LH00995:48:23YTGFLT4:3:2491:37146:7390,LH00995:48:23YTGFLT4:4:1484:27333:8973,LH00995:48:23YTGFLT4:4:2324:16080:16189,LH00995:48:23YTGFLT4:5:1296:20262:20547,LH00995:48:23YTGFLT4:6:1358:7092:16343,LH00995:48:23YTGFLT4:6:2129:31014:10753,LH00995:48:23YTGFLT4:6:2386:20278:2555,LH00995:48:23YTGFLT4:6:2485:7003:7053,LH00995:48:23YTGFLT4:7:2221:17382:10711,LH00995:48:23YTGFLT4:7:2265:5312:3088,LH00995:48:23YTGFLT4:7:2415:33400:14690,LH00995:48:23YTGFLT4:8:1161:27381:21668,LH00995:48:23YTGFLT4:8:1396:12399:9477,LH00995:48:23YTGFLT4:8:2360:23005:28128,LH00995:48:23YTGFLT4:8:1322:45422:26544

ZFYVE26

-/-

chr14:67777514

chr14:67777558

CDS/splice-site

CDS

duplication/ITD

208

low

in-frame

|FYVE_zinc_finger(100%)

ENSG00000072121.17

ENST00000678386.1

upstream

downstream

duplicates(17),mismappers(1)

CCCACTTCTATGGACAACTGACTGCTGTCCGACACCGTGAAATCCAGGCGCTGTATGTGGGATCCAAGGTAAGGATACACCGTGAAATCCAGGCGCTGTATGTGGGATCCAAG|GTAAGGATACACCGTGAAATCCAGGCGCTGTATGTGGGATCCAAG

HFYGQLTAVRHREIQALYVGSKVRIHREIQALYVGSK|VRIHREIQALYVGS

LH00995:48:23YTGFLT4:2:1489:32446:8413,LH00995:48:23YTGFLT4:3:1321:34315:10725,LH00995:48:23YTGFLT4:3:1433:42380:11635,LH00995:48:23YTGFLT4:3:1433:42380:11635,LH00995:48:23YTGFLT4:3:1433:42397:11635,LH00995:48:23YTGFLT4:3:1433:42397:11635,LH00995:48:23YTGFLT4:4:1321:32842:28128,LH00995:48:23YTGFLT4:5:1244:38060:4657,LH00995:48:23YTGFLT4:5:2445:28530:11635,LH00995:48:23YTGFLT4:5:2445:28530:11635,LH00995:48:23YTGFLT4:6:1173:4843:12532,LH00995:48:23YTGFLT4:6:2108:2335:7880,LH00995:48:23YTGFLT4:6:2240:20780:29515,LH00995:48:23YTGFLT4:7:1128:45382:21738,LH00995:48:23YTGFLT4:7:1385:47971:9856,LH00995:48:23YTGFLT4:7:2103:5069:4069,LH00995:48:23YTGFLT4:7:2171:45511:3298,LH00995:48:23YTGFLT4:7:2245:20222:13163,LH00995:48:23YTGFLT4:7:2245:20222:13163,LH00995:48:23YTGFLT4:8:2326:50535:4853,LH00995:48:23YTGFLT4:8:2334:8969:24751,LH00995:48:23YTGFLT4:2:1489:32446:8413,LH00995:48:23YTGFLT4:3:1321:34315:10725,LH00995:48:23YTGFLT4:4:1321:32842:28128,LH00995:48:23YTGFLT4:5:1244:38060:4657,LH00995:48:23YTGFLT4:6:1173:4843:12532,LH00995:48:23YTGFLT4:6:2108:2335:7880,LH00995:48:23YTGFLT4:6:2240:20780:29515,LH00995:48:23YTGFLT4:7:1128:45382:21738,LH00995:48:23YTGFLT4:7:1385:47971:9856,LH00995:48:23YTGFLT4:7:2103:5069:4069,LH00995:48:23YTGFLT4:7:2171:45511:3298,LH00995:48:23YTGFLT4:8:2326:50535:4853,LH00995:48:23YTGFLT4:8:2334:8969:24751

MRPL21

FP236383.3

-/-

+/+

chr11:68892197

chr21:8444185

3'UTR

intron

translocation

3847

6424

low

Ribosomal_prokaryotic_L21_protein(86%)|

ENSG00000197345.13

ENSG00000280441.3

ENST00000565125.5

upstream

duplicates(41),mismatches(23),multimappers(3)

CCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCC|CGCCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:48:23YTGFLT4:1:1221:27074:26432,LH00995:48:23YTGFLT4:1:1264:11226:6241,LH00995:48:23YTGFLT4:1:1342:49928:16049,LH00995:48:23YTGFLT4:1:2297:6283:18782,LH00995:48:23YTGFLT4:1:2308:22374:26558,LH00995:48:23YTGFLT4:1:2429:46620:19202,LH00995:48:23YTGFLT4:2:1122:25100:22397,LH00995:48:23YTGFLT4:2:1135:51951:22635,LH00995:48:23YTGFLT4:2:1212:51821:25297,LH00995:48:23YTGFLT4:2:1303:8427:14452,LH00995:48:23YTGFLT4:2:1347:18547:18473,LH00995:48:23YTGFLT4:2:1347:34436:27777,LH00995:48:23YTGFLT4:2:1386:22697:21626,LH00995:48:23YTGFLT4:2:1424:13038:10612,LH00995:48:23YTGFLT4:2:1453:50503:24723,LH00995:48:23YTGFLT4:2:2122:29056:16722,LH00995:48:23YTGFLT4:2:2215:3977:23532,LH00995:48:23YTGFLT4:2:2420:1340:8875,LH00995:48:23YTGFLT4:2:2440:32308:29669,LH00995:48:23YTGFLT4:3:1254:39282:28436,LH00995:48:23YTGFLT4:3:1279:13604:21430,LH00995:48:23YTGFLT4:3:1286:27770:10038,LH00995:48:23YTGFLT4:3:1286:27778:10052,LH00995:48:23YTGFLT4:3:1319:36798:13261,LH00995:48:23YTGFLT4:3:1466:5005:9926,LH00995:48:23YTGFLT4:3:2153:47679:25157,LH00995:48:23YTGFLT4:3:2490:9608:1476,LH00995:48:23YTGFLT4:4:1276:35844:13989,LH00995:48:23YTGFLT4:4:1357:43286:29095,LH00995:48:23YTGFLT4:4:1435:30051:28534,LH00995:48:23YTGFLT4:4:2197:2100:14312,LH00995:48:23YTGFLT4:4:2221:24518:19286,LH00995:48:23YTGFLT4:4:2410:34501:22957,LH00995:48:23YTGFLT4:4:2432:4899:22383,LH00995:48:23YTGFLT4:4:2493:31394:11103,LH00995:48:23YTGFLT4:5:1111:39330:7081,LH00995:48:23YTGFLT4:5:1129:10837:20337,LH00995:48:23YTGFLT4:5:1207:7148:26783,LH00995:48:23YTGFLT4:5:1267:22074:23097,LH00995:48:23YTGFLT4:5:1384:17633:14984,LH00995:48:23YTGFLT4:5:1438:44120:24709,LH00995:48:23YTGFLT4:5:2126:20376:1182,LH00995:48:23YTGFLT4:5:2284:28619:21598,LH00995:48:23YTGFLT4:5:2342:27867:28142,LH00995:48:23YTGFLT4:5:2380:4511:29249,LH00995:48:23YTGFLT4:6:1150:20869:1140,LH00995:48:23YTGFLT4:6:1263:9033:7796,LH00995:48:23YTGFLT4:6:1292:41482:10949,LH00995:48:23YTGFLT4:6:2103:48189:15026,LH00995:48:23YTGFLT4:6:2111:2610:1098,LH00995:48:23YTGFLT4:6:2128:11833:7011,LH00995:48:23YTGFLT4:6:2139:5061:4587,LH00995:48:23YTGFLT4:6:2247:3686:27007,LH00995:48:23YTGFLT4:6:2395:10627:20925,LH00995:48:23YTGFLT4:6:2408:37583:23448,LH00995:48:23YTGFLT4:6:2493:44451:13261,LH00995:48:23YTGFLT4:7:1160:24841:15166,LH00995:48:23YTGFLT4:7:1164:4139:14340,LH00995:48:23YTGFLT4:7:1234:47218:11523,LH00995:48:23YTGFLT4:7:1246:9794:23350,LH00995:48:23YTGFLT4:7:1316:7844:17815,LH00995:48:23YTGFLT4:7:1316:8467:14130,LH00995:48:23YTGFLT4:7:1373:5134:28674,LH00995:48:23YTGFLT4:7:1375:8410:11677,LH00995:48:23YTGFLT4:7:1382:39856:6955,LH00995:48:23YTGFLT4:7:2118:38853:19903,LH00995:48:23YTGFLT4:7:2377:16298:8665,LH00995:48:23YTGFLT4:7:2458:14858:28786,LH00995:48:23YTGFLT4:8:1111:36410:16708,LH00995:48:23YTGFLT4:8:1111:36426:16708,LH00995:48:23YTGFLT4:8:1119:23984:12784,LH00995:48:23YTGFLT4:8:1269:3896:13527,LH00995:48:23YTGFLT4:8:1337:30480:7109,LH00995:48:23YTGFLT4:8:1376:38958:9772,LH00995:48:23YTGFLT4:8:2194:35067:17184,LH00995:48:23YTGFLT4:8:2220:26734:5106,LH00995:48:23YTGFLT4:8:2286:29719:7418,LH00995:48:23YTGFLT4:8:2387:37526:27525,LH00995:48:23YTGFLT4:8:2407:37154:1883,LH00995:48:23YTGFLT4:8:2472:35447:13695

DNAJC1

-/-

chr10:21805980

chr10:21929141

CDS/splice-site

duplication/non-canonical_splicing

513

539

low

in-frame

DnaJ_domain(100%)|DnaJ_domain(83%),Myb-like_DNA-binding_domain(100%)

ENSG00000136770.11

ENST00000376980.8

upstream

downstream

duplicates(6)

AACAG___GCACCTGAATGGACAGAAGAGGACCTCAGCCAACTGACAAGAAGTATGGTTAAGTTCCCAGGAGGGACTCCAGGTCGATGGGAAAAGATTGCCCACGAATTGGGTCGATCTGTGACAGAT|GATGCATCATCTGCAGACATCAGAAAAGCATATCGTAAGCTTTCACTAACTTTACATCCAGACAAGAATAAAGATGAAAATGCAGAAACTCAGTTTAGACAA

QAPEWTEEDLSQLTRSMVKFPGGTPGRWEKIAHELGRSVTD|DASSADIRKAYRKLSLTLHPDKNKDENAETQFR

LH00995:48:23YTGFLT4:1:2305:38230:7866,LH00995:48:23YTGFLT4:2:1352:18515:6927,LH00995:48:23YTGFLT4:2:2320:21209:29669,LH00995:48:23YTGFLT4:3:1117:26362:29347,LH00995:48:23YTGFLT4:5:1255:16743:5988,LH00995:48:23YTGFLT4:7:1459:40374:16259,LH00995:48:23YTGFLT4:7:1459:40390:16259,LH00995:48:23YTGFLT4:1:2412:14413:21486,LH00995:48:23YTGFLT4:2:1478:45827:20603,LH00995:48:23YTGFLT4:3:1413:42785:21892,LH00995:48:23YTGFLT4:3:2123:21735:4741,LH00995:48:23YTGFLT4:6:1174:45446:26783,LH00995:48:23YTGFLT4:6:1220:24590:25942,LH00995:48:23YTGFLT4:7:1284:4762:22537,LH00995:48:23YTGFLT4:7:2237:30723:4951,LH00995:48:23YTGFLT4:8:1206:13612:14718,LH00995:48:23YTGFLT4:8:2198:50203:25942

GDF7

+/+

chr2:20667388

chr2:20667380

CDS

duplication/ITD

low

in-frame

|TGF-beta_propeptide(100%),Transforming_growth_factor_beta_like_domain(100%)

ENSG00000143869.7

ENST00000272224.5

downstream

upstream

duplicates(43),low_entropy(4)

CTGTGCCTTTGGCTGCTGAGCGCCTGCCGCCCCCGCGACGGGCTGGAAGCGGCCGCCGTGCTGCGAGCGGCGGGGGCTGGGCCGGTCCGGAGCCCAGGGGGCGGCGGCGGCGGCGGCGGCGGCGG|CGGCGGCGGGCGGACTCTTGCCCAGGC

LCLWLLSACRPRDGLEAAAVLRAAGAGPVRSPGGGGGGGGGg|GGGRTLAQ

LH00995:48:23YTGFLT4:1:2333:3346:28856,LH00995:48:23YTGFLT4:1:2333:3346:28856,LH00995:48:23YTGFLT4:1:2430:51700:28338,LH00995:48:23YTGFLT4:1:2430:51700:28338,LH00995:48:23YTGFLT4:2:1306:46053:8244,LH00995:48:23YTGFLT4:2:1306:46053:8244,LH00995:48:23YTGFLT4:2:2116:38352:29599,LH00995:48:23YTGFLT4:2:2116:38352:29599,LH00995:48:23YTGFLT4:2:2188:11379:21556,LH00995:48:23YTGFLT4:2:2188:11379:21556,LH00995:48:23YTGFLT4:2:2214:21176:29221,LH00995:48:23YTGFLT4:2:2214:21176:29221,LH00995:48:23YTGFLT4:3:1277:48602:1925,LH00995:48:23YTGFLT4:3:1277:48602:1925,LH00995:48:23YTGFLT4:3:1277:48618:1925,LH00995:48:23YTGFLT4:3:1277:48618:1925,LH00995:48:23YTGFLT4:4:1136:33125:16484,LH00995:48:23YTGFLT4:4:1136:33125:16484,LH00995:48:23YTGFLT4:4:1196:32058:3088,LH00995:48:23YTGFLT4:4:1196:32058:3088,LH00995:48:23YTGFLT4:4:1240:9139:6829,LH00995:48:23YTGFLT4:4:1240:9139:6829,LH00995:48:23YTGFLT4:4:2408:27770:19875,LH00995:48:23YTGFLT4:4:2408:27770:19875,LH00995:48:23YTGFLT4:4:2488:20756:11173,LH00995:48:23YTGFLT4:4:2488:20756:11173,LH00995:48:23YTGFLT4:4:2493:23919:19650,LH00995:48:23YTGFLT4:4:2493:23919:19650,LH00995:48:23YTGFLT4:5:2146:35383:22018,LH00995:48:23YTGFLT4:5:2146:35383:22018,LH00995:48:23YTGFLT4:5:2147:35649:23826,LH00995:48:23YTGFLT4:5:2147:35649:23826,LH00995:48:23YTGFLT4:5:2473:50527:4195,LH00995:48:23YTGFLT4:5:2473:50527:4195,LH00995:48:23YTGFLT4:6:1248:16484:6549,LH00995:48:23YTGFLT4:6:1248:16484:6549,LH00995:48:23YTGFLT4:6:2154:14357:23686,LH00995:48:23YTGFLT4:6:2154:14357:23686,LH00995:48:23YTGFLT4:6:2313:29056:28604,LH00995:48:23YTGFLT4:6:2313:29056:28604,LH00995:48:23YTGFLT4:6:2386:24453:28226,LH00995:48:23YTGFLT4:6:2386:24453:28226,LH00995:48:23YTGFLT4:6:2406:33619:6044,LH00995:48:23YTGFLT4:6:2406:33619:6044,LH00995:48:23YTGFLT4:6:2414:29841:19454,LH00995:48:23YTGFLT4:6:2414:29841:19454,LH00995:48:23YTGFLT4:7:1183:20634:5498,LH00995:48:23YTGFLT4:7:1183:20634:5498,LH00995:48:23YTGFLT4:7:2135:31329:4741,LH00995:48:23YTGFLT4:7:2135:31329:4741,LH00995:48:23YTGFLT4:7:2372:37858:1224,LH00995:48:23YTGFLT4:8:1172:51627:27147,LH00995:48:23YTGFLT4:8:1172:51627:27147,LH00995:48:23YTGFLT4:8:1329:28053:24344,LH00995:48:23YTGFLT4:8:1329:28053:24344,LH00995:48:23YTGFLT4:2:1157:22261:1308,LH00995:48:23YTGFLT4:2:1157:22261:1308,LH00995:48:23YTGFLT4:1:2383:33231:21794

RERE

FP236383.3

-/-

+/+

chr1:8360464

chr21:8399956

CDS

intron

translocation

12449

7631

low

out-of-frame

Atrophin-1_family(44%),BAH_domain(100%),ELM2_domain(100%),GATA_zinc_finger(100%)|

ENSG00000142599.19

ENSG00000280441.3

ENST00000400908.7

upstream

duplicates(121),mismatches(110)

GAAGCCCCTGAGCTCCCTGTCCACACATCACCCCCCGTCGGCTCACCCCCCACCCCTGCAACTCATGCCTCAGAGCCAGCCATTGCCCTCCTCGCCCGCCCAGCCCCCCGGGCTGACCCAGAGCCAGAACCTGCCCC|GCGCCCTCTCTCTCTCTCTCTCCC

KPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLP|ralslsls

LH00995:48:23YTGFLT4:1:1107:20683:7432,LH00995:48:23YTGFLT4:1:1107:20699:7432,LH00995:48:23YTGFLT4:1:1159:36183:24751,LH00995:48:23YTGFLT4:1:1182:27996:18417,LH00995:48:23YTGFLT4:1:1196:29841:2163,LH00995:48:23YTGFLT4:1:1214:43950:28955,LH00995:48:23YTGFLT4:1:1225:8807:15475,LH00995:48:23YTGFLT4:1:1231:19105:22551,LH00995:48:23YTGFLT4:1:1236:16581:6997,LH00995:48:23YTGFLT4:1:1255:41401:2738,LH00995:48:23YTGFLT4:1:1296:3411:5036,LH00995:48:23YTGFLT4:1:1320:44476:11593,LH00995:48:23YTGFLT4:1:1321:10668:19342,LH00995:48:23YTGFLT4:1:1357:9236:13807,LH00995:48:23YTGFLT4:1:1360:21888:8006,LH00995:48:23YTGFLT4:1:1382:46539:14662,LH00995:48:23YTGFLT4:1:1389:34185:27175,LH00995:48:23YTGFLT4:1:1498:23304:28814,LH00995:48:23YTGFLT4:1:2183:5830:15251,LH00995:48:23YTGFLT4:1:2190:40568:5134,LH00995:48:23YTGFLT4:1:2293:29873:10514,LH00995:48:23YTGFLT4:1:2316:41143:9379,LH00995:48:23YTGFLT4:1:2337:22309:16610,LH00995:48:23YTGFLT4:1:2379:51878:1378,LH00995:48:23YTGFLT4:1:2405:44961:18011,LH00995:48:23YTGFLT4:1:2450:2036:10472,LH00995:48:23YTGFLT4:1:2459:5579:28492,LH00995:48:23YTGFLT4:1:2482:45374:26881,LH00995:48:23YTGFLT4:2:1179:43206:26797,LH00995:48:23YTGFLT4:2:1179:43214:26811,LH00995:48:23YTGFLT4:2:1209:13531:11832,LH00995:48:23YTGFLT4:2:1336:47356:10725,LH00995:48:23YTGFLT4:2:1351:7804:4293,LH00995:48:23YTGFLT4:2:1372:37761:20757,LH00995:48:23YTGFLT4:2:1397:2036:9407,LH00995:48:23YTGFLT4:2:1426:9163:4013,LH00995:48:23YTGFLT4:2:1427:10215:5022,LH00995:48:23YTGFLT4:2:1444:10619:5134,LH00995:48:23YTGFLT4:2:1456:26807:16554,LH00995:48:23YTGFLT4:2:1460:37017:27988,LH00995:48:23YTGFLT4:2:2105:8718:25409,LH00995:48:23YTGFLT4:2:2161:46571:19286,LH00995:48:23YTGFLT4:2:2240:14041:6605,LH00995:48:23YTGFLT4:2:2286:17932:22565,LH00995:48:23YTGFLT4:2:2294:28102:1448,LH00995:48:23YTGFLT4:2:2298:9511:7362,LH00995:48:23YTGFLT4:2:2415:13459:29669,LH00995:48:23YTGFLT4:2:2425:27309:6437,LH00995:48:23YTGFLT4:2:2434:3686:27063,LH00995:48:23YTGFLT4:2:2437:45382:15096,LH00995:48:23YTGFLT4:2:2469:31192:14144,LH00995:48:23YTGFLT4:3:1134:27357:9604,LH00995:48:23YTGFLT4:3:1135:16824:8651,LH00995:48:23YTGFLT4:3:1135:16832:8665,LH00995:48:23YTGFLT4:3:1172:41644:9576,LH00995:48:23YTGFLT4:3:1201:21654:21892,LH00995:48:23YTGFLT4:3:1222:42939:16385,LH00995:48:23YTGFLT4:3:1245:40269:28744,LH00995:48:23YTGFLT4:3:1256:22358:18431,LH00995:48:23YTGFLT4:3:1256:22366:18445,LH00995:48:23YTGFLT4:3:1311:17059:5498,LH00995:48:23YTGFLT4:3:1312:6339:9463,LH00995:48:23YTGFLT4:3:1349:20214:9225,LH00995:48:23YTGFLT4:3:1353:13289:15727,LH00995:48:23YTGFLT4:3:1382:47930:25423,LH00995:48:23YTGFLT4:3:1402:6566:7193,LH00995:48:23YTGFLT4:3:1402:9988:27777,LH00995:48:23YTGFLT4:3:1411:32769:22593,LH00995:48:23YTGFLT4:3:1421:47469:11341,LH00995:48:23YTGFLT4:3:1450:2934:24134,LH00995:48:23YTGFLT4:3:1471:28004:2289,LH00995:48:23YTGFLT4:3:2134:28150:27287,LH00995:48:23YTGFLT4:3:2168:49111:10234,LH00995:48:23YTGFLT4:3:2172:19745:16512,LH00995:48:23YTGFLT4:3:2213:7731:8314,LH00995:48:23YTGFLT4:3:2243:44031:19006,LH00995:48:23YTGFLT4:3:2249:8831:16021,LH00995:48:23YTGFLT4:3:2272:22552:13135,LH00995:48:23YTGFLT4:3:2312:22034:10248,LH00995:48:23YTGFLT4:3:2322:8613:14774,LH00995:48:23YTGFLT4:3:2336:1461:25620,LH00995:48:23YTGFLT4:3:2338:50705:25522,LH00995:48:23YTGFLT4:3:2372:49815:24485,LH00995:48:23YTGFLT4:3:2401:22455:26474,LH00995:48:23YTGFLT4:3:2413:44904:20491,LH00995:48:23YTGFLT4:3:2451:35811:2639,LH00995:48:23YTGFLT4:3:2464:13345:20701,LH00995:48:23YTGFLT4:3:2479:19777:17380,LH00995:48:23YTGFLT4:4:1104:50980:10893,LH00995:48:23YTGFLT4:4:1131:31418:25662,LH00995:48:23YTGFLT4:4:1135:38732:1420,LH00995:48:23YTGFLT4:4:1155:2521:18936,LH00995:48:23YTGFLT4:4:1175:34695:5890,LH00995:48:23YTGFLT4:4:1224:47364:19174,LH00995:48:23YTGFLT4:4:1245:31782:28086,LH00995:48:23YTGFLT4:4:1246:34695:16428,LH00995:48:23YTGFLT4:4:1252:28474:22243,LH00995:48:23YTGFLT4:4:1254:13976:12238,LH00995:48:23YTGFLT4:4:1269:33473:6381,LH00995:48:23YTGFLT4:4:1292:17423:12686,LH00995:48:23YTGFLT4:4:1321:48051:28240,LH00995:48:23YTGFLT4:4:1358:36936:27735,LH00995:48:23YTGFLT4:4:1421:29728:9057,LH00995:48:23YTGFLT4:4:2112:29736:18824,LH00995:48:23YTGFLT4:4:2135:17463:21696,LH00995:48:23YTGFLT4:4:2224:10562:18319,LH00995:48:23YTGFLT4:4:2227:6299:11411,LH00995:48:23YTGFLT4:4:2233:1615:28520,LH00995:48:23YTGFLT4:4:2302:27721:16428,LH00995:48:23YTGFLT4:4:2303:24421:3592,LH00995:48:23YTGFLT4:4:2312:3184:24204,LH00995:48:23YTGFLT4:4:2344:22819:15419,LH00995:48:23YTGFLT4:4:2373:29744:12532,LH00995:48:23YTGFLT4:4:2417:50300:10388,LH00995:48:23YTGFLT4:4:2424:15166:8917,LH00995:48:23YTGFLT4:4:2430:1704:18669,LH00995:48:23YTGFLT4:4:2433:27924:17170,LH00995:48:23YTGFLT4:4:2437:10449:18375,LH00995:48:23YTGFLT4:4:2444:19801:3606,LH00995:48:23YTGFLT4:4:2467:19947:21402,LH00995:48:23YTGFLT4:4:2476:9139:19104,LH00995:48:23YTGFLT4:5:1140:19453:14017,LH00995:48:23YTGFLT4:5:1170:19445:8146,LH00995:48:23YTGFLT4:5:1176:18191:7095,LH00995:48:23YTGFLT4:5:1202:15287:5792,LH00995:48:23YTGFLT4:5:1225:17738:2051,LH00995:48:23YTGFLT4:5:1256:37607:6815,LH00995:48:23YTGFLT4:5:1275:40245:12028,LH00995:48:23YTGFLT4:5:1297:33805:1659,LH00995:48:23YTGFLT4:5:1306:8532:18726,LH00995:48:23YTGFLT4:5:1313:40940:10178,LH00995:48:23YTGFLT4:5:1327:14640:13303,LH00995:48:23YTGFLT4:5:1359:7019:17787,LH00995:48:23YTGFLT4:5:1366:21565:16105,LH00995:48:23YTGFLT4:5:1379:24048:4349,LH00995:48:23YTGFLT4:5:1409:34193:12560,LH00995:48:23YTGFLT4:5:1475:12399:20883,LH00995:48:23YTGFLT4:5:2101:48577:4377,LH00995:48:23YTGFLT4:5:2112:42138:27497,LH00995:48:23YTGFLT4:5:2186:5425:26909,LH00995:48:23YTGFLT4:5:2195:14324:20435,LH00995:48:23YTGFLT4:5:2204:44306:10122,LH00995:48:23YTGFLT4:5:2206:37688:1911,LH00995:48:23YTGFLT4:5:2269:26791:28352,LH00995:48:23YTGFLT4:5:2296:39080:22761,LH00995:48:23YTGFLT4:5:2311:33417:7992,LH00995:48:23YTGFLT4:5:2332:21063:11705,LH00995:48:23YTGFLT4:5:2334:24542:6409,LH00995:48:23YTGFLT4:5:2341:24356:9421,LH00995:48:23YTGFLT4:5:2346:49233:26222,LH00995:48:23YTGFLT4:5:2369:31621:11916,LH00995:48:23YTGFLT4:5:2371:38457:3943,LH00995:48:23YTGFLT4:5:2411:4859:27217,LH00995:48:23YTGFLT4:5:2492:13321:1294,LH00995:48:23YTGFLT4:6:1205:13685:2317,LH00995:48:23YTGFLT4:6:1216:31750:23602,LH00995:48:23YTGFLT4:6:1220:20141:21794,LH00995:48:23YTGFLT4:6:1273:32114:18936,LH00995:48:23YTGFLT4:6:1273:32122:18950,LH00995:48:23YTGFLT4:6:1284:1696:3410,LH00995:48:23YTGFLT4:6:1363:32308:7950,LH00995:48:23YTGFLT4:6:1373:15902:18011,LH00995:48:23YTGFLT4:6:1404:27535:23448,LH00995:48:23YTGFLT4:6:1478:12099:10753,LH00995:48:23YTGFLT4:6:2101:5166:26993,LH00995:48:23YTGFLT4:6:2169:37680:27259,LH00995:48:23YTGFLT4:6:2205:15230:4909,LH00995:48:23YTGFLT4:6:2207:13095:18950,LH00995:48:23YTGFLT4:6:2235:39872:20099,LH00995:48:23YTGFLT4:6:2298:37284:24723,LH00995:48:23YTGFLT4:6:2314:35601:17492,LH00995:48:23YTGFLT4:6:2352:32745:9155,LH00995:48:23YTGFLT4:6:2362:33433:10711,LH00995:48:23YTGFLT4:6:2384:43756:1154,LH00995:48:23YTGFLT4:6:2405:27527:22621,LH00995:48:23YTGFLT4:6:2483:13151:9491,LH00995:48:23YTGFLT4:7:1117:8459:23952,LH00995:48:23YTGFLT4:7:1124:29436:22145,LH00995:48:23YTGFLT4:7:1128:30456:19650,LH00995:48:23YTGFLT4:7:1161:12585:28156,LH00995:48:23YTGFLT4:7:1197:32114:27035,LH00995:48:23YTGFLT4:7:1218:8847:10640,LH00995:48:23YTGFLT4:7:1231:37437:13499,LH00995:48:23YTGFLT4:7:1233:48213:2822,LH00995:48:23YTGFLT4:7:1303:26661:5064,LH00995:48:23YTGFLT4:7:1367:12221:14494,LH00995:48:23YTGFLT4:7:1370:3880:26699,LH00995:48:23YTGFLT4:7:1409:30715:15082,LH00995:48:23YTGFLT4:7:1411:47712:17366,LH00995:48:23YTGFLT4:7:1488:44977:7502,LH00995:48:23YTGFLT4:7:1488:46644:7586,LH00995:48:23YTGFLT4:7:1496:32114:1813,LH00995:48:23YTGFLT4:7:2138:34938:3340,LH00995:48:23YTGFLT4:7:2180:5595:26755,LH00995:48:23YTGFLT4:7:2214:16800:23153,LH00995:48:23YTGFLT4:7:2248:1437:27567,LH00995:48:23YTGFLT4:7:2273:50414:20337,LH00995:48:23YTGFLT4:7:2330:10668:24415,LH00995:48:23YTGFLT4:7:2337:25739:16385,LH00995:48:23YTGFLT4:7:2344:38473:25493,LH00995:48:23YTGFLT4:7:2405:44540:18824,LH00995:48:23YTGFLT4:7:2412:10328:21164,LH00995:48:23YTGFLT4:7:2413:47396:26797,LH00995:48:23YTGFLT4:8:1134:21945:19286,LH00995:48:23YTGFLT4:8:1142:50867:5008,LH00995:48:23YTGFLT4:8:1187:29687:15349,LH00995:48:23YTGFLT4:8:1193:18256:29179,LH00995:48:23YTGFLT4:8:1193:18264:29193,LH00995:48:23YTGFLT4:8:1229:12682:20421,LH00995:48:23YTGFLT4:8:1271:37567:6521,LH00995:48:23YTGFLT4:8:1278:52169:18277,LH00995:48:23YTGFLT4:8:1279:38117:16357,LH00995:48:23YTGFLT4:8:1311:29226:27749,LH00995:48:23YTGFLT4:8:1325:17544:21248,LH00995:48:23YTGFLT4:8:1331:21872:7866,LH00995:48:23YTGFLT4:8:1357:32179:12406,LH00995:48:23YTGFLT4:8:1374:24348:6577,LH00995:48:23YTGFLT4:8:1378:4090:8819,LH00995:48:23YTGFLT4:8:1382:34298:14816,LH00995:48:23YTGFLT4:8:1383:21379:6199,LH00995:48:23YTGFLT4:8:1395:4632:6311,LH00995:48:23YTGFLT4:8:1405:26872:16217,LH00995:48:23YTGFLT4:8:2111:42421:27119,LH00995:48:23YTGFLT4:8:2119:51660:5232,LH00995:48:23YTGFLT4:8:2230:20578:6100,LH00995:48:23YTGFLT4:8:2237:27034:2625,LH00995:48:23YTGFLT4:8:2237:27042:2611,LH00995:48:23YTGFLT4:8:2238:14397:29333,LH00995:48:23YTGFLT4:8:2268:17075:21136,LH00995:48:23YTGFLT4:8:2282:44112:5162,LH00995:48:23YTGFLT4:8:2343:51126:14031,LH00995:48:23YTGFLT4:8:2348:35075:21430,LH00995:48:23YTGFLT4:8:2387:42494:27609,LH00995:48:23YTGFLT4:8:2423:22511:29347,LH00995:48:23YTGFLT4:8:2432:11080:24933,LH00995:48:23YTGFLT4:8:2436:1469:4419,LH00995:48:23YTGFLT4:8:2476:19194:18950

SYNPO

FP236383.3

+/+

chr5:150650116

chr21:8399954

CDS

intron

translocation

5969

7631

low

out-of-frame

ENSG00000171992.13

ENSG00000280441.3

ENST00000394243.5

downstream

upstream

duplicates(9),mismatches(3)

TTTGTCCTCTCACCTATCAAGGAGCCTGCCAAGGTCTCACCAAGAGCTGCCTCGCCCGCCAAGCCCAGCTCCTTGGACCTGGTGCCCAACCTGCCCAAGGGGGCTCTCCCTCCATCTCCTGCCCTGCC|CCGCGCCCTCTCTCTCTCTCTCTCCCCC

FVLSPIKEPAKVSPRAASPAKPSSLDLVPNLPKGALPPSPALp|ralslsls

LH00995:48:23YTGFLT4:1:1212:3403:12056,LH00995:48:23YTGFLT4:1:2140:19987:9533,LH00995:48:23YTGFLT4:1:2211:42130:23952,LH00995:48:23YTGFLT4:1:2263:13887:14242,LH00995:48:23YTGFLT4:1:2328:45835:26783,LH00995:48:23YTGFLT4:2:1116:27147:10781,LH00995:48:23YTGFLT4:2:1139:40261:8889,LH00995:48:23YTGFLT4:2:2267:19623:13303,LH00995:48:23YTGFLT4:2:2481:27843:27315,LH00995:48:23YTGFLT4:3:1244:36936:8427,LH00995:48:23YTGFLT4:3:1291:10481:14648,LH00995:48:23YTGFLT4:3:2220:21152:3088,LH00995:48:23YTGFLT4:4:1142:36717:22004,LH00995:48:23YTGFLT4:4:2260:44977:8903,LH00995:48:23YTGFLT4:5:1128:50584:1911,LH00995:48:23YTGFLT4:5:1154:44840:13065,LH00995:48:23YTGFLT4:5:2238:38335:14858,LH00995:48:23YTGFLT4:6:1304:2812:10052,LH00995:48:23YTGFLT4:6:2266:2464:5778,LH00995:48:23YTGFLT4:6:2350:41191:1308,LH00995:48:23YTGFLT4:7:2105:15052:6395,LH00995:48:23YTGFLT4:7:2304:34557:17535

C6orf118

-/-

chr6:165302193

chr6:165302234

CDS

duplication/ITD

219

low

in-frame

|Translin-associated_factor_X-interacting_N-terminus(100%)

ENSG00000112539.15

ENST00000230301.9

upstream

downstream

duplicates(18),mismappers(1)

GTACCTGAAGTGGAAGCACTGCGAGACGCCAGGCGTGAAGACCCTGTGTAATCTGAAGCACTGCGAGACGC?AGGAGTGAAGACCCTGTGTAATCTGAAGcA|c|TGCGAGACGCtAGGAGTGAAGACCCTGTGTAATCTGAAGcAc

YLKWKHCETPGVKTLCNLKHCET?GVKTLCNLKh|CETlGVKTLCNLK

LH00995:48:23YTGFLT4:1:2253:32826:2149,LH00995:48:23YTGFLT4:1:2273:33967:13093,LH00995:48:23YTGFLT4:2:2331:37785:6367,LH00995:48:23YTGFLT4:2:2379:12156:11047,LH00995:48:23YTGFLT4:4:2338:34978:6605,LH00995:48:23YTGFLT4:5:1230:39403:11972,LH00995:48:23YTGFLT4:5:1344:43748:6577,LH00995:48:23YTGFLT4:5:1388:27689:17913,LH00995:48:23YTGFLT4:5:2108:10943:11019,LH00995:48:23YTGFLT4:6:2431:47291:10220,LH00995:48:23YTGFLT4:6:2461:50454:11495,LH00995:48:23YTGFLT4:8:1151:49961:25522,LH00995:48:23YTGFLT4:1:2253:32826:2149,LH00995:48:23YTGFLT4:1:2273:33967:13093,LH00995:48:23YTGFLT4:1:2273:33967:13093,LH00995:48:23YTGFLT4:2:2331:37785:6367,LH00995:48:23YTGFLT4:2:2379:12156:11047,LH00995:48:23YTGFLT4:2:2379:12156:11047,LH00995:48:23YTGFLT4:2:2379:12156:11047,LH00995:48:23YTGFLT4:4:2338:34978:6605,LH00995:48:23YTGFLT4:5:1230:39403:11972,LH00995:48:23YTGFLT4:5:1344:43748:6577,LH00995:48:23YTGFLT4:5:1388:27689:17913,LH00995:48:23YTGFLT4:5:2108:10943:11019,LH00995:48:23YTGFLT4:6:2431:47291:10220,LH00995:48:23YTGFLT4:6:2461:50454:11495,LH00995:48:23YTGFLT4:8:1151:49961:25522,LH00995:48:23YTGFLT4:3:1485:48092:22733,LH00995:48:23YTGFLT4:6:1271:11161:5512

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

2145

2383

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(13),low_entropy(2)

ATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAG

VSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:1:1238:24671:16946,LH00995:48:23YTGFLT4:1:1402:51263:27665,LH00995:48:23YTGFLT4:2:1196:51546:7362,LH00995:48:23YTGFLT4:2:2474:15327:1939,LH00995:48:23YTGFLT4:3:1121:13208:21388,LH00995:48:23YTGFLT4:3:1310:37543:28983,LH00995:48:23YTGFLT4:3:1424:7197:20337,LH00995:48:23YTGFLT4:3:1424:7213:20337,LH00995:48:23YTGFLT4:3:1424:7221:20323,LH00995:48:23YTGFLT4:3:2406:5587:3957,LH00995:48:23YTGFLT4:7:1185:33498:17773,LH00995:48:23YTGFLT4:7:2217:5878:10486,LH00995:48:23YTGFLT4:7:2485:34565:15839,LH00995:48:23YTGFLT4:8:1157:48221:27385,LH00995:48:23YTGFLT4:3:1478:14405:17464,LH00995:48:23YTGFLT4:3:2415:44775:29627,LH00995:48:23YTGFLT4:4:2290:45463:7025,LH00995:48:23YTGFLT4:4:2490:21597:22607,LH00995:48:23YTGFLT4:5:1407:12286:13737,LH00995:48:23YTGFLT4:5:1407:12302:13737,LH00995:48:23YTGFLT4:5:1407:12310:13751,LH00995:48:23YTGFLT4:8:2283:23814:4195

RBM14

RBM4

+/+

chr11:66617057

chr11:66665856

CDS/splice-site

deletion/read-through

2145

1367

low

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(1)

CGAGTGTGACGTGGTGAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAACAAAGGGCATACATACATTTTCAAGAACcGC

ECDVVK|gKITPVTEGYCCCNKGHTYIFKN

LH00995:48:23YTGFLT4:1:1113:39686:3971,LH00995:48:23YTGFLT4:5:1486:40455:1126

RBM14

RBM4

+/+

chr11:66625678

chr11:66643450

CDS/splice-site

deletion/read-through

713

1559

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)(6%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000408993.6

downstream

upstream

duplicates(2)

GGGGCCGTTGCCAACGCCAACAGCACCCCGCCGCCCTATGAGCGTACCCGCCTCTCCCCACCCCGGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCAAACGAATGCACGTGCAGTTGTCC

GAVANANSTPPPYERTRLSPPRASYDDPYKKAVAMSKr|qtnaravv

LH00995:48:23YTGFLT4:4:2130:31750:10851,LH00995:48:23YTGFLT4:6:2198:44031:9954,LH00995:48:23YTGFLT4:8:1416:3904:23798

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2145

1754

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(152),read_through(118)

CGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCT?CCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACG

VGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkp?pggyragdsltlravwegagm*

LH00995:48:23YTGFLT4:1:1120:45010:11285,LH00995:48:23YTGFLT4:1:1141:47890:21402,LH00995:48:23YTGFLT4:1:1290:25197:20519,LH00995:48:23YTGFLT4:1:1389:45074:20057,LH00995:48:23YTGFLT4:1:2133:34808:26769,LH00995:48:23YTGFLT4:1:2143:39719:29669,LH00995:48:23YTGFLT4:1:2177:28546:23910,LH00995:48:23YTGFLT4:1:2259:6736:10262,LH00995:48:23YTGFLT4:1:2283:17884:11131,LH00995:48:23YTGFLT4:1:2294:38489:20057,LH00995:48:23YTGFLT4:1:2303:43618:15180,LH00995:48:23YTGFLT4:1:2387:47404:3242,LH00995:48:23YTGFLT4:1:2472:46264:13261,LH00995:48:23YTGFLT4:1:2480:47412:28870,LH00995:48:23YTGFLT4:2:1153:1655:16680,LH00995:48:23YTGFLT4:2:1220:40544:16918,LH00995:48:23YTGFLT4:2:1293:40884:8146,LH00995:48:23YTGFLT4:2:1337:46239:29053,LH00995:48:23YTGFLT4:2:1347:32009:26825,LH00995:48:23YTGFLT4:2:1384:12277:25550,LH00995:48:23YTGFLT4:2:1466:38117:23055,LH00995:48:23YTGFLT4:2:1497:17148:20954,LH00995:48:23YTGFLT4:2:2194:36531:25970,LH00995:48:23YTGFLT4:2:2215:12027:8216,LH00995:48:23YTGFLT4:2:2216:3273:12560,LH00995:48:23YTGFLT4:2:2339:8152:27315,LH00995:48:23YTGFLT4:2:2347:29728:27553,LH00995:48:23YTGFLT4:2:2348:23336:11747,LH00995:48:23YTGFLT4:2:2420:27559:15615,LH00995:48:23YTGFLT4:2:2445:34468:23602,LH00995:48:23YTGFLT4:3:1112:7084:3270,LH00995:48:23YTGFLT4:3:1145:38432:25479,LH00995:48:23YTGFLT4:3:1208:21484:3074,LH00995:48:23YTGFLT4:3:1235:43845:26222,LH00995:48:23YTGFLT4:3:1236:14826:18109,LH00995:48:23YTGFLT4:3:1292:44759:26825,LH00995:48:23YTGFLT4:3:1334:13604:9407,LH00995:48:23YTGFLT4:3:1493:9090:7754,LH00995:48:23YTGFLT4:3:2181:21913:23434,LH00995:48:23YTGFLT4:3:2182:22107:1687,LH00995:48:23YTGFLT4:3:2186:35666:24022,LH00995:48:23YTGFLT4:3:2231:6331:24443,LH00995:48:23YTGFLT4:3:2236:46166:27834,LH00995:48:23YTGFLT4:3:2250:24582:17352,LH00995:48:23YTGFLT4:3:2256:13426:9015,LH00995:48:23YTGFLT4:3:2319:12423:26727,LH00995:48:23YTGFLT4:3:2348:30342:18249,LH00995:48:23YTGFLT4:3:2348:31483:20113,LH00995:48:23YTGFLT4:3:2493:26928:17913,LH00995:48:23YTGFLT4:4:1130:44993:22495,LH00995:48:23YTGFLT4:4:1289:34776:3901,LH00995:48:23YTGFLT4:4:1292:41968:17506,LH00995:48:23YTGFLT4:4:1363:42898:9141,LH00995:48:23YTGFLT4:4:1386:42607:17436,LH00995:48:23YTGFLT4:4:1386:46094:2794,LH00995:48:23YTGFLT4:4:1402:26071:28002,LH00995:48:23YTGFLT4:4:1477:14664:14746,LH00995:48:23YTGFLT4:4:2146:18927:3158,LH00995:48:23YTGFLT4:4:2158:14923:5862,LH00995:48:23YTGFLT4:4:2194:23862:4139,LH00995:48:23YTGFLT4:4:2323:24623:1673,LH00995:48:23YTGFLT4:4:2345:23199:7137,LH00995:48:23YTGFLT4:4:2401:50470:1294,LH00995:48:23YTGFLT4:4:2410:2553:4783,LH00995:48:23YTGFLT4:4:2450:49613:1659,LH00995:48:23YTGFLT4:5:1125:28053:15657,LH00995:48:23YTGFLT4:5:1135:6299:6002,LH00995:48:23YTGFLT4:5:1180:7326:15993,LH00995:48:23YTGFLT4:5:1353:49775:5330,LH00995:48:23YTGFLT4:5:2164:12803:24639,LH00995:48:23YTGFLT4:5:2171:6477:6591,LH00995:48:23YTGFLT4:5:2206:51506:2780,LH00995:48:23YTGFLT4:5:2261:10757:9267,LH00995:48:23YTGFLT4:5:2264:51514:27427,LH00995:48:23YTGFLT4:5:2376:40673:28016,LH00995:48:23YTGFLT4:5:2429:8046:11551,LH00995:48:23YTGFLT4:5:2434:7148:26614,LH00995:48:23YTGFLT4:5:2476:13086:4279,LH00995:48:23YTGFLT4:5:2481:43950:19370,LH00995:48:23YTGFLT4:6:1256:46886:4979,LH00995:48:23YTGFLT4:6:1275:16589:12896,LH00995:48:23YTGFLT4:6:1281:41822:22271,LH00995:48:23YTGFLT4:6:1296:15522:22369,LH00995:48:23YTGFLT4:6:1336:27592:11860,LH00995:48:23YTGFLT4:6:1465:44257:13765,LH00995:48:23YTGFLT4:6:1496:11056:29151,LH00995:48:23YTGFLT4:6:2221:39848:8819,LH00995:48:23YTGFLT4:6:2273:39824:21136,LH00995:48:23YTGFLT4:6:2298:41515:19608,LH00995:48:23YTGFLT4:7:1145:37543:28786,LH00995:48:23YTGFLT4:7:1148:39848:4083,LH00995:48:23YTGFLT4:7:1153:48359:11537,LH00995:48:23YTGFLT4:7:1206:35925:3536,LH00995:48:23YTGFLT4:7:1462:33918:13261,LH00995:48:23YTGFLT4:7:1479:43003:18403,LH00995:48:23YTGFLT4:7:2159:47695:8230,LH00995:48:23YTGFLT4:7:2186:3233:19833,LH00995:48:23YTGFLT4:7:2216:13515:10879,LH00995:48:23YTGFLT4:7:2244:33061:8132,LH00995:48:23YTGFLT4:7:2262:51579:14928,LH00995:48:23YTGFLT4:7:2376:26710:6409,LH00995:48:23YTGFLT4:7:2413:43545:29655,LH00995:48:23YTGFLT4:7:2459:28304:13513,LH00995:48:23YTGFLT4:7:2489:25052:7432,LH00995:48:23YTGFLT4:8:1111:6331:22369,LH00995:48:23YTGFLT4:8:1193:40681:7992,LH00995:48:23YTGFLT4:8:1229:39460:18655,LH00995:48:23YTGFLT4:8:1351:46207:11033,LH00995:48:23YTGFLT4:8:1408:28021:4279,LH00995:48:23YTGFLT4:8:1421:47623:17577,LH00995:48:23YTGFLT4:8:1421:47631:17563,LH00995:48:23YTGFLT4:8:1469:22584:17619,LH00995:48:23YTGFLT4:8:1481:32260:20645,LH00995:48:23YTGFLT4:8:1481:32276:20645,LH00995:48:23YTGFLT4:8:2113:44726:3536,LH00995:48:23YTGFLT4:8:2119:8961:14732,LH00995:48:23YTGFLT4:8:2127:42348:9842,LH00995:48:23YTGFLT4:8:2176:26208:14900,LH00995:48:23YTGFLT4:8:2251:18628:25676,LH00995:48:23YTGFLT4:1:1104:13815:7221,LH00995:48:23YTGFLT4:1:1117:32689:8413,LH00995:48:23YTGFLT4:1:1132:45471:20799,LH00995:48:23YTGFLT4:1:1145:47420:29165,LH00995:48:23YTGFLT4:1:1255:38894:12546,LH00995:48:23YTGFLT4:1:1274:8370:23378,LH00995:48:23YTGFLT4:1:1349:3799:17310,LH00995:48:23YTGFLT4:1:2111:30804:24737,LH00995:48:23YTGFLT4:1:2164:20440:11047,LH00995:48:23YTGFLT4:1:2173:14777:22425,LH00995:48:23YTGFLT4:1:2179:51376:14186,LH00995:48:23YTGFLT4:1:2215:37170:10795,LH00995:48:23YTGFLT4:1:2304:15797:13149,LH00995:48:23YTGFLT4:1:2354:1736:27301,LH00995:48:23YTGFLT4:1:2408:18749:16638,LH00995:48:23YTGFLT4:2:1201:1065:15769,LH00995:48:23YTGFLT4:2:1281:25391:15138,LH00995:48:23YTGFLT4:2:1302:6801:24078,LH00995:48:23YTGFLT4:2:1346:4074:18039,LH00995:48:23YTGFLT4:2:1411:23870:15026,LH00995:48:23YTGFLT4:2:1432:50875:24246,LH00995:48:23YTGFLT4:2:2111:28724:6311,LH00995:48:23YTGFLT4:2:2184:16832:18137,LH00995:48:23YTGFLT4:2:2193:52129:12742,LH00995:48:23YTGFLT4:2:2202:24995:21822,LH00995:48:23YTGFLT4:2:2222:28085:11930,LH00995:48:23YTGFLT4:2:2256:1623:17689,LH00995:48:23YTGFLT4:2:2279:42332:12224,LH00995:48:23YTGFLT4:2:2317:5037:23826,LH00995:48:23YTGFLT4:2:2322:24607:6044,LH00995:48:23YTGFLT4:3:1101:49904:28983,LH00995:48:23YTGFLT4:3:1106:6534:20869,LH00995:48:23YTGFLT4:3:1106:6542:20883,LH00995:48:23YTGFLT4:3:1115:35787:24541,LH00995:48:23YTGFLT4:3:1141:8637:12826,LH00995:48:23YTGFLT4:3:1148:11557:22509,LH00995:48:23YTGFLT4:3:1149:22309:17058,LH00995:48:23YTGFLT4:3:1186:42461:10178,LH00995:48:23YTGFLT4:3:1188:38125:25620,LH00995:48:23YTGFLT4:3:1236:16233:10626,LH00995:48:23YTGFLT4:3:1239:33117:2906,LH00995:48:23YTGFLT4:3:1324:10352:6493,LH00995:48:23YTGFLT4:3:1324:10360:6479,LH00995:48:23YTGFLT4:3:1347:39250:14816,LH00995:48:23YTGFLT4:3:2109:50228:27497,LH00995:48:23YTGFLT4:3:2144:38392:2962,LH00995:48:23YTGFLT4:3:2294:30795:2724,LH00995:48:23YTGFLT4:3:2335:31831:13289,LH00995:48:23YTGFLT4:3:2353:43084:15881,LH00995:48:23YTGFLT4:3:2359:36483:7109,LH00995:48:23YTGFLT4:4:1131:49119:16666,LH00995:48:23YTGFLT4:4:1160:51878:25003,LH00995:48:23YTGFLT4:4:1248:5272:20897,LH00995:48:23YTGFLT4:4:1278:36248:29011,LH00995:48:23YTGFLT4:4:1278:36264:29011,LH00995:48:23YTGFLT4:4:1316:28789:4825,LH00995:48:23YTGFLT4:4:1319:5708:9351,LH00995:48:23YTGFLT4:4:1367:32308:4447,LH00995:48:23YTGFLT4:4:1437:7828:3887,LH00995:48:23YTGFLT4:4:1447:37632:27960,LH00995:48:23YTGFLT4:4:1462:10134:7516,LH00995:48:23YTGFLT4:4:1476:6590:4629,LH00995:48:23YTGFLT4:4:2123:24162:23238,LH00995:48:23YTGFLT4:4:2145:13248:26530,LH00995:48:23YTGFLT4:4:2240:40196:16764,LH00995:48:23YTGFLT4:4:2266:51506:29683,LH00995:48:23YTGFLT4:4:2282:37510:11327,LH00995:48:23YTGFLT4:4:2290:4721:15321,LH00995:48:23YTGFLT4:4:2315:18086:13359,LH00995:48:23YTGFLT4:4:2353:18167:29669,LH00995:48:23YTGFLT4:4:2428:51829:21584,LH00995:48:23YTGFLT4:4:2428:51846:21584,LH00995:48:23YTGFLT4:4:2430:21371:7137,LH00995:48:23YTGFLT4:4:2437:47024:27021,LH00995:48:23YTGFLT4:4:2437:47040:27021,LH00995:48:23YTGFLT4:4:2446:49435:24639,LH00995:48:23YTGFLT4:4:2446:49443:24625,LH00995:48:23YTGFLT4:5:1105:6194:5764,LH00995:48:23YTGFLT4:5:1147:45624:20701,LH00995:48:23YTGFLT4:5:1154:13167:9155,LH00995:48:23YTGFLT4:5:1175:44071:8847,LH00995:48:23YTGFLT4:5:1181:51198:8160,LH00995:48:23YTGFLT4:5:1212:30156:8763,LH00995:48:23YTGFLT4:5:1222:18143:15503,LH00995:48:23YTGFLT4:5:1265:18402:16792,LH00995:48:23YTGFLT4:5:1277:2877:12154,LH00995:48:23YTGFLT4:5:1409:44128:11663,LH00995:48:23YTGFLT4:5:1421:11420:25381,LH00995:48:23YTGFLT4:5:1434:31815:15222,LH00995:48:23YTGFLT4:5:2147:35706:2766,LH00995:48:23YTGFLT4:5:2160:3629:2724,LH00995:48:23YTGFLT4:5:2204:10595:24120,LH00995:48:23YTGFLT4:5:2277:22616:24709,LH00995:48:23YTGFLT4:5:2453:26217:14634,LH00995:48:23YTGFLT4:5:2498:38295:14368,LH00995:48:23YTGFLT4:6:1181:3265:28912,LH00995:48:23YTGFLT4:6:1282:6194:16498,LH00995:48:23YTGFLT4:6:1282:6202:16484,LH00995:48:23YTGFLT4:6:1282:6210:16470,LH00995:48:23YTGFLT4:6:1282:6218:16484,LH00995:48:23YTGFLT4:6:1297:42987:5344,LH00995:48:23YTGFLT4:6:1325:21799:6535,LH00995:48:23YTGFLT4:6:1355:12633:3999,LH00995:48:23YTGFLT4:6:1436:3071:1420,LH00995:48:23YTGFLT4:6:1449:18466:28786,LH00995:48:23YTGFLT4:6:2102:13531:16512,LH00995:48:23YTGFLT4:6:2221:25157:20141,LH00995:48:23YTGFLT4:6:2327:31985:12406,LH00995:48:23YTGFLT4:6:2335:41863:20071,LH00995:48:23YTGFLT4:6:2357:7245:15685,LH00995:48:23YTGFLT4:6:2443:27551:27259,LH00995:48:23YTGFLT4:7:1120:26322:24597,LH00995:48:23YTGFLT4:7:1176:29622:6717,LH00995:48:23YTGFLT4:7:1176:29631:6703,LH00995:48:23YTGFLT4:7:1235:24744:19034,LH00995:48:23YTGFLT4:7:1281:7990:24933,LH00995:48:23YTGFLT4:7:1281:8006:24933,LH00995:48:23YTGFLT4:7:1281:8014:24919,LH00995:48:23YTGFLT4:7:1326:21128:21878,LH00995:48:23YTGFLT4:7:1412:21363:26741,LH00995:48:23YTGFLT4:7:1483:30359:24835,LH00995:48:23YTGFLT4:7:2107:2003:13555,LH00995:48:23YTGFLT4:7:2138:3435:21864,LH00995:48:23YTGFLT4:7:2204:1825:4531,LH00995:48:23YTGFLT4:7:2276:34622:10444,LH00995:48:23YTGFLT4:7:2419:49686:9407,LH00995:48:23YTGFLT4:8:1115:5077:18403,LH00995:48:23YTGFLT4:8:1125:12455:8342,LH00995:48:23YTGFLT4:8:1125:12464:8328,LH00995:48:23YTGFLT4:8:1154:39355:26572,LH00995:48:23YTGFLT4:8:1187:6752:7376,LH00995:48:23YTGFLT4:8:1190:8783:7418,LH00995:48:23YTGFLT4:8:1191:15716:24106,LH00995:48:23YTGFLT4:8:1195:41563:17815,LH00995:48:23YTGFLT4:8:1210:46984:18263,LH00995:48:23YTGFLT4:8:1282:3977:12490,LH00995:48:23YTGFLT4:8:1422:23013:21556,LH00995:48:23YTGFLT4:8:2121:36725:20869,LH00995:48:23YTGFLT4:8:2123:50114:10598,LH00995:48:23YTGFLT4:8:2141:44427:8791,LH00995:48:23YTGFLT4:8:2186:29817:24176,LH00995:48:23YTGFLT4:8:2196:24971:13009,LH00995:48:23YTGFLT4:8:2205:50584:26348,LH00995:48:23YTGFLT4:8:2205:50600:26348,LH00995:48:23YTGFLT4:8:2221:28886:3200,LH00995:48:23YTGFLT4:8:2294:51093:13331,LH00995:48:23YTGFLT4:8:2329:45948:7922,LH00995:48:23YTGFLT4:8:2386:23312:6885,LH00995:48:23YTGFLT4:8:2412:18418:19790,LH00995:48:23YTGFLT4:8:2415:50915:15573,LH00995:48:23YTGFLT4:8:2487:34646:19286

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

1754

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(2),read_through(1)

CGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGAC

LH00995:48:23YTGFLT4:1:1250:37017:10668,LH00995:48:23YTGFLT4:2:2128:7294:14031,LH00995:48:23YTGFLT4:2:2280:11986:8931

RBM14

RBM4

+/+

chr11:66619504

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

1754

low

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(75%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000496694.1

ENST00000396053.9

downstream

upstream

read_through(1)

TCTCTTCATTTTT|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAG

LH00995:48:23YTGFLT4:2:2226:2278:25493

MYO1E

ARPC3

-/-

chr15:59236352

chr12:110436686

intron

translocation

1886

low

Myosin_head_(motor_domain)(18%)|ARP2/3_complex_ARPC3_(21_kDa)_subunit(51%)

ENSG00000157483.9

ENSG00000111229.16

ENST00000467622.2

upstream

downstream

duplicates(2),mismappers(6),mismatches(1),multimappers(3)

TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATTTTTTTTTTTTC|CAGTGCAATTCCAAAAGCCAAGGTGAGAAAGAAATGTATACGCTGGGAATCACTAATTTTCCCATTCCTGGAGAGCCTGGTTTTCCACTTAACGCAATTTATGCCAAACCTGCAAACAAACAGGAAGATGGTAAGAACAGGTCTCTATCCTCACTCTGTGACACAAGAAGATTTTCTCCATTTGACTTCC

LH00995:48:23YTGFLT4:1:1305:37098:18684,LH00995:48:23YTGFLT4:1:1406:3605:15405,LH00995:48:23YTGFLT4:1:1466:49475:11285,LH00995:48:23YTGFLT4:1:2189:34687:28184,LH00995:48:23YTGFLT4:2:1442:43003:22579,LH00995:48:23YTGFLT4:2:2152:49694:29711,LH00995:48:23YTGFLT4:4:2109:26791:8286,LH00995:48:23YTGFLT4:4:2364:20764:25648,LH00995:48:23YTGFLT4:5:2325:26977:13429,LH00995:48:23YTGFLT4:6:1166:50414:25101,LH00995:48:23YTGFLT4:6:2405:31265:2079,LH00995:48:23YTGFLT4:7:2348:50875:11187,LH00995:48:23YTGFLT4:8:1102:28457:11117,LH00995:48:23YTGFLT4:8:2182:20926:18838,LH00995:48:23YTGFLT4:8:2183:24348:7165,LH00995:48:23YTGFLT4:8:2212:47639:22985,LH00995:48:23YTGFLT4:8:2287:26629:13107

PCDHA2

PCDHAC1

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

692

low

in-frame

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(19),mismatches(1)

CCAGACTCCGCAGAAGAGAAACAGCTCTCAGAATCAGAATACGTAGGAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAG?AGTGGCCAACAGTATCCAGTGCAACACCAG

PDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQ?WPTVSSATP

LH00995:48:23YTGFLT4:1:1319:4964:2177,LH00995:48:23YTGFLT4:1:1339:1591:17268,LH00995:48:23YTGFLT4:1:1432:44856:24723,LH00995:48:23YTGFLT4:2:1132:38408:17983,LH00995:48:23YTGFLT4:2:1132:39743:22285,LH00995:48:23YTGFLT4:2:1264:22115:22018,LH00995:48:23YTGFLT4:2:2153:48165:19664,LH00995:48:23YTGFLT4:3:1183:2108:15951,LH00995:48:23YTGFLT4:3:1207:45932:22131,LH00995:48:23YTGFLT4:4:1215:21840:3859,LH00995:48:23YTGFLT4:4:1264:46781:13541,LH00995:48:23YTGFLT4:4:1435:42032:23167,LH00995:48:23YTGFLT4:4:2484:29291:14746,LH00995:48:23YTGFLT4:4:2484:29299:14732,LH00995:48:23YTGFLT4:4:2484:29299:14760,LH00995:48:23YTGFLT4:5:1432:7027:26657,LH00995:48:23YTGFLT4:5:1460:38279:16385,LH00995:48:23YTGFLT4:5:2409:49459:19216,LH00995:48:23YTGFLT4:5:2422:19033:19482,LH00995:48:23YTGFLT4:6:2497:20618:10122,LH00995:48:23YTGFLT4:7:1192:15724:25157,LH00995:48:23YTGFLT4:7:1192:15740:25157,LH00995:48:23YTGFLT4:7:2195:51603:12616,LH00995:48:23YTGFLT4:7:2318:11905:19776,LH00995:48:23YTGFLT4:8:1328:34679:26600

PCDHA2

PCDHAC2

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

692

low

in-frame

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(19),mismatches(1)

PDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQ?WPTVSSATP

PCDHA2

PCDHA13

+/+

chr5:140797352

chr5:140978949

CDS/splice-site

deletion/read-through

692

low

in-frame

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(19),mismatches(1)

PDSAEEKQLSESEYVGK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQ?WPTVSSATP

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581197

CDS

deletion/read-through

1348

203

low

in-frame

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(2)

CCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG___ATGGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|GCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGAGGGGCCAACAGGAAAGCAGGAG

PSENRVSALTQMESACVSIHEALKSVIDYQTHFRLREAQGRSRAEDLNTRVAYw|HSVDTSPGYHESDSKKSEDLSLCNVAEHSNTTEGPTGKQ

LH00995:48:23YTGFLT4:2:1217:33797:26530,LH00995:48:23YTGFLT4:3:2419:6558:24919,LH00995:48:23YTGFLT4:2:2142:29153:18459,LH00995:48:23YTGFLT4:4:1403:32122:22397,LH00995:48:23YTGFLT4:7:1212:32591:2023,LH00995:48:23YTGFLT4:7:2188:24396:14059,LH00995:48:23YTGFLT4:8:2332:17665:28520

AL512590.2

CCDC180

+/+

chr9:97294991

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

low

|Domain_of_unknown_function_(DUF4455)(100%),Domain_of_unknown_function_(DUF4456)(100%)

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

duplicates(3)

ATACTGGTGCCTAAATCAATCGGCAG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCC

LH00995:48:23YTGFLT4:1:1270:49629:5134,LH00995:48:23YTGFLT4:1:1297:12496:15699,LH00995:48:23YTGFLT4:1:1422:10053:6703,LH00995:48:23YTGFLT4:3:1237:46053:10066,LH00995:48:23YTGFLT4:4:2498:9292:6899,LH00995:48:23YTGFLT4:5:1187:45802:10865,LH00995:48:23YTGFLT4:5:2401:33975:4503

PSMD10P2

PSMD10P1

+/+

chr3:186761661

chr20:50914283

exon

translocation

low

ENSG00000226652.3

ENSG00000228663.1

ENST00000626135.2

ENST00000436861.1

downstream

upstream

CTCCTCTACACTTAGCCTGTGATGAGGAGAGAGTGGAAGAAG|CAAAACTGCTGGTGTCCCAAGGAGCAA

LH00995:48:23YTGFLT4:2:2142:28830:7334,LH00995:48:23YTGFLT4:2:2323:16687:28422,LH00995:48:23YTGFLT4:2:2387:37987:7698,LH00995:48:23YTGFLT4:4:2168:44702:8146

TEX15

-/-

chr8:30858668

chr8:30887311

CDS/splice-site

duplication/non-canonical_splicing

187

low

out-of-frame

Protein_of_unknown_function_(DUF3715)(100%)|Protein_of_unknown_function_(DUF3715)(100%),Testis_expressed_sequence_15(100%)

ENSG00000133863.9

ENST00000643185.2

ENST00000638951.1

upstream

downstream

duplicates(2)

CTTCCATATGCTGTAGTAACAGTAAAATTTCTTGGTTCAAAAGTAGATAATGGACGCCTTATGACATCTTTGAGATTCCTCTCAACAGGATTTCCTAAGAGAGCTG|GCCAACAAAATGGAAATGAAAGAAACTGCTAAACAGGATACACTGTGGCAAATGAGCTCAACTAGCAAACCCGTGTTGAATACTCGTGAAGTCAATCCTTTGAAGAAATTCACCATTCCTAAGATCAGGAGGACAGCTGAGAAAG___TTTACTTGTCACCTTGTTACACCAATAGTAGAGAGTATAGTTTTATACATGATACTCTTAACCAGTGCAGGCTTGATGTtAACTGTGATCTGCAGTCGTTATGGCAGTTTGG

LPYAVVTVKFLGSKVDNGRLMTSLRFLSTGFPKRA|gqqngnernc*

LH00995:48:23YTGFLT4:1:1432:19227:11916,LH00995:48:23YTGFLT4:1:2145:22981:22705,LH00995:48:23YTGFLT4:1:2148:50980:14368,LH00995:48:23YTGFLT4:2:1288:11727:8595,LH00995:48:23YTGFLT4:4:1133:39500:15391,LH00995:48:23YTGFLT4:6:2208:8362:27175

SOX5

PCBP2

-/-

+/+

chr12:23781662

chr12:53461021

intron

CDS

inversion

8033

low

|KH_domain(51%)

ENSG00000134532.19

ENSG00000197111.16

ENST00000447282.5

upstream

CGGGGGAGAGAGAGAGAGAGAGTACA|GGGGCTCAGGTCCAGGTGGCAGGGGATATGCTACCCAACTCAACTGAGCGGGCCATCACTATTGCTGGCATTCCACAATCCATCATTGAGTGTGTCAAACAGATCTGCGTGGTCATGTTGGAG___ACTCTCTCCCAG

LH00995:48:23YTGFLT4:1:1459:21160:21430,LH00995:48:23YTGFLT4:2:2274:20845:24667,LH00995:48:23YTGFLT4:3:1212:35803:12210,LH00995:48:23YTGFLT4:7:1184:26775:27735

PCDHB14

PCDHB15

+/+

chr5:141223541

chr5:141245484

CDS/splice-site

5'UTR

deletion/read-through

229

241

low

out-of-frame

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

ENSG00000120327.7

ENSG00000113248.6

ENST00000239449.7

ENST00000231173.6

downstream

upstream

TTCCAAAATTACGGCTGAGCTTCAGTTTTTCCACAAGAGATTGCCTAAAGGAACCATGGAGATCAGAGGGGCACTCGATCTGCGAAAAAGG|TTATCAACGCACAGATCGATCACTGCCTCTGTCCCATCGCTCCCTGAAGTAGCTCTGACTCCGGTTCCTTGAAAGGGG

MEIRGALDLRKR|lsthrsitasvpslpevaltpvp*

LH00995:48:23YTGFLT4:4:2367:38732:18824,LH00995:48:23YTGFLT4:1:2454:46822:4839,LH00995:48:23YTGFLT4:2:1244:21201:23518

DNAAF4

CCPG1

-/-

chr15:55432497

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

558

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000321149.7

ENST00000310958.10

upstream

downstream

duplicates(3)

AGATTCTTCTAAG___GCACTGGAATTATTGATGCCACCTGTTACAGACAATGCTAATGCAAGAATGAAGGCACATGTACGACGTGGAACAGCATTCTGTCAACTAGAATTGTATGTAGAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGT

DSSKALELLMPPVTDNANARMKAHVRRGTAFCQLELYVE|dlkdv*

LH00995:48:23YTGFLT4:4:2194:49710:15138,LH00995:48:23YTGFLT4:5:2456:49095:6815,LH00995:48:23YTGFLT4:8:1189:39573:23083,LH00995:48:23YTGFLT4:6:1310:48351:9337,LH00995:48:23YTGFLT4:7:1358:48901:27862,LH00995:48:23YTGFLT4:7:1358:48909:27848

DNAAF4

CCPG1

-/-

chr15:55434905

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

558

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000448430.6

ENST00000310958.10

upstream

downstream

duplicates(2)

GAACCGGGCTGCTTGCCACCTAAAACTAAAAAACTTACACAAGGCTATTGAAGATTCTTCTAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCC

NRAACHLKLKNLHKAIEDSSK|t*

LH00995:48:23YTGFLT4:2:2310:18677:4881,LH00995:48:23YTGFLT4:3:1198:48100:1140,LH00995:48:23YTGFLT4:3:2402:41547:2709,LH00995:48:23YTGFLT4:7:2220:1898:1434

DNAAF4

CCPG1

-/-

chr15:55439472

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

117

558

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000448430.6

ENST00000310958.10

upstream

downstream

TTTACCCCTCGAGTATTCCCAACAGCTCTTCGTGAATCACAAGTAGCAGAAGAGGAGGAG___TGGCTACACAAACAAGCTGAGGCACGAAGAGCAATGAATACTGACATAGCTGAACTTTGCGATTTAAAAGAAGAAGAAAAGAACCCAGAATGGTTGAAGGATAAAGGAAA|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCA

FTPRVFPTALRESQVAEEEEWLHKQAEARRAMNTDIAELCDLKEEEKNPEWLKDKGk|perclkipvtvi

LH00995:48:23YTGFLT4:6:1221:18547:8300

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

175

160

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(3)

CAATCATGCTGTGCTGAAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAG

NHAVLKLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqa

LH00995:48:23YTGFLT4:3:1342:41774:16890,LH00995:48:23YTGFLT4:5:1384:14656:6044,LH00995:48:23YTGFLT4:6:2411:29315:26699,LH00995:48:23YTGFLT4:7:1201:14292:8889,LH00995:48:23YTGFLT4:8:1477:25537:23630,LH00995:48:23YTGFLT4:8:2359:24599:3760

PKD1P3

AC138969.3

+/+

-/+

chr16:14932796

chr16:16351593

intron

exon

deletion/5'-5'

202

116

low

ENSG00000183458.14

ENSG00000277920.1

ENST00000534164.6

downstream

upstream

duplicates(6),mismappers(7),mismatches(2),multimappers(3)

TCCAGATCGCCACCCCGCACAGCCTGGGTAGCGTGTGGAAGATCCGAGTGTGGCACGACAACAAAGGTCTGTATGGACCCTGCCAAGCTCTGCCCCTCTGCCCCTGCATTGGGGCGCCCTG|TCTTGGGGCTGCAGCCGGCCTCCTCAGCTCGAGTGTAACAACAGTCGTGGCCATGGCAGCACCTGCGGATGTCACATGGGCAGGACAGCAG___AGACGTCTCCCACAACCTGCTCCGGGCGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCgCTG

LH00995:48:23YTGFLT4:1:1386:10376:29039,LH00995:48:23YTGFLT4:8:1294:22600:10584,LH00995:48:23YTGFLT4:1:1201:16897:12868,LH00995:48:23YTGFLT4:1:1348:50268:19945,LH00995:48:23YTGFLT4:1:1493:21500:29053,LH00995:48:23YTGFLT4:2:1107:28652:10865,LH00995:48:23YTGFLT4:2:1147:26119:18473,LH00995:48:23YTGFLT4:3:1386:23150:14536,LH00995:48:23YTGFLT4:3:1386:23167:14536,LH00995:48:23YTGFLT4:3:2140:9583:7572,LH00995:48:23YTGFLT4:3:2444:42971:18768,LH00995:48:23YTGFLT4:3:2444:42979:18754,LH00995:48:23YTGFLT4:4:2268:34954:28926,LH00995:48:23YTGFLT4:5:2134:39573:10192,LH00995:48:23YTGFLT4:6:1151:24825:14186,LH00995:48:23YTGFLT4:6:1449:7877:4447,LH00995:48:23YTGFLT4:6:2129:4090:15713,LH00995:48:23YTGFLT4:7:1289:47081:6605,LH00995:48:23YTGFLT4:7:1289:47089:6619,LH00995:48:23YTGFLT4:7:2424:38295:25522,LH00995:48:23YTGFLT4:8:2121:21775:17506

NPIPA1

AC138969.3

+/+

-/+

chr16:14932796

chr16:16351593

intron

exon

deletion/5'-5'

202

116

low

ENSG00000183426.17

ENSG00000277920.1

ENST00000472413.5

downstream

upstream

duplicates(6),mismappers(7),mismatches(2),multimappers(3)

CNTN4

AC087427.1

+/+

chr3:2571558

chr3:2141137

CDS/splice-site

exon/splice-site

duplication

1335

low

out-of-frame

ENSG00000144619.15

ENSG00000286363.1

ENST00000418658.6

ENST00000668002.1

downstream

upstream

CCTTTGACCTCGGAAACTGAAGATGAGGTTGCCATGGGAACTGCTGGTACTGCAATCATTCATTTTGTGCCTTGCAG|GGTATTGTGATAGGCAGAATGCTGGCCCTGCCCCAAAGATGCCAGTGTCCTAATCTCTAGAACCTCTGAATATGCTACCcCAC

MRLPWELLVLQSFILCLA|gycdrqnagpapkmpvs*

LH00995:48:23YTGFLT4:2:1433:38894:15293,LH00995:48:23YTGFLT4:3:2318:49872:12476,LH00995:48:23YTGFLT4:4:1279:10878:8637

SRARP

CLCNKA

+/+

chr1:16006773

chr1:16022613

3'UTR

5'UTR/splice-site

deletion/read-through

214

low

Steroid_receptor-associated_and_regulated_protein(100%)|CBS_domain(100%),Voltage_gated_chloride_channel(100%)

ENSG00000183888.4

ENSG00000186510.12

ENST00000329454.2

ENST00000464764.5

downstream

upstream

duplicates(4)

TGAAACAGGATGCTAGAGGGAGAGTGATTGGGGTGAAGACCTTTCCTGATGCAGTGCTTG|GGGCCTGATGGAGGAGTTGGTGGGGCTGCGTGAGGGCTTCTCAGGGGACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCACA___TCCGCTCTGGCCACCTTGCTTCTCGCCTCCATCACCTACCCGCCTGGTGTGGGCCACTTCCTAGCTTCTCGG___CTGTCCATGAAGCAGCA

LH00995:48:23YTGFLT4:1:2314:33231:20869,LH00995:48:23YTGFLT4:2:2362:30650:11131,LH00995:48:23YTGFLT4:3:1139:10821:25662,LH00995:48:23YTGFLT4:5:2161:48666:14256,LH00995:48:23YTGFLT4:5:2211:48326:25886,LH00995:48:23YTGFLT4:7:1474:41013:9660,LH00995:48:23YTGFLT4:8:2364:46668:21752

PCDHGA1

PCDHGA8

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000253767.3

ENST00000378105.4

ENST00000398604.3

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

PCDHGA1

PCDHGB6

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000253305.2

ENST00000378105.4

ENST00000520790.1

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

PCDHGA1

PCDHGC5

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000240764.4

ENST00000378105.4

ENST00000252087.3

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

PCDHGA1

PCDHGA10

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000253846.2

ENST00000378105.4

ENST00000398610.2

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

PCDHGA1

PCDHGC4

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000242419.5

ENST00000378105.4

ENST00000306593.1

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

PCDHGA1

PCDHGA9

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000261934.2

ENST00000378105.4

ENST00000573521.1

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

PCDHGA1

PCDHGB7

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000254122.3

ENST00000378105.4

ENST00000398594.4

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

low

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(2)

GAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTT

LH00995:48:23YTGFLT4:1:2248:39533:28618,LH00995:48:23YTGFLT4:2:1486:23668:23252,LH00995:48:23YTGFLT4:3:1468:39953:3256,LH00995:48:23YTGFLT4:3:1468:39970:3256,LH00995:48:23YTGFLT4:7:1354:23102:2878

PCDHGA1

PCDHGA11

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000253873.6

ENST00000378105.4

ENST00000398587.7

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

PCDHGA1

PCDHGA12

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000253159.3

ENST00000378105.4

ENST00000252085.4

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

AL137792.1

AL360081.1

-/-

+/+

chr1:28120979

chr9:98235355

exon

translocation

low

ENSG00000214812.3

ENSG00000224001.2

ENST00000399029.3

ENST00000428299.2

upstream

TGCTATTGTTTACATGAtAGATGCTGCAGATCGTGAAAAGATAGAAGCTTCCCGAAATGAGCTACATAATCTTCTA|GATAAACCACAGTTACAAGGAATTCCAG

LH00995:48:23YTGFLT4:1:2233:10101:6871,LH00995:48:23YTGFLT4:1:2356:49686:9996,LH00995:48:23YTGFLT4:4:1310:44241:11607

PCDHGA1

PCDHGC3

+/+

chr5:141333105

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

8731

low

in-frame

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

ENSG00000204956.5

ENSG00000240184.7

ENST00000378105.4

ENST00000308177.5

downstream

upstream

duplicates(2)

CGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACACTCATCAGCCAGGAGAGCTGTGAGAAAAAGGGTTTTCTATCAGCACCCCAGTCTTTACTTGAAGACAAAAAGGAACCATTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCG

DSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLLEDKKEPFSQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:4:2153:24396:26755,LH00995:48:23YTGFLT4:4:2437:6226:21458,LH00995:48:23YTGFLT4:5:1213:26831:23097,LH00995:48:23YTGFLT4:6:1241:12237:22201,LH00995:48:23YTGFLT4:6:1259:12601:14144

CCDC93

-/-

chr2:117931037

chr2:117986069

CDS/splice-site

duplication/non-canonical_splicing

272

727

low

in-frame

CCDC93__coiled-coil_domain(100%)|CCDC93__coiled-coil_domain(18%)

ENSG00000125633.11

ENST00000319432.9

upstream

downstream

duplicates(2)

GAAGGAATTAAGCAAAGTAGAATGAAG___ATGGAAAAGAAAAAGCAAGAGAACAAAATGAGAAGAGACCAGTTGAACGACCAGTACTTGGAGCTGTTAGAAAAGCAGAGGCTATACTTTAAGACTGTGAAAGAGTTCAAGGAG|GAAGTGTACAAGCCCCGTCGGAAATACAAACGCCACCAGGGAGtAGAGGAG

EGIKQSRMKMEKKKQENKMRRDQLNDQYLELLEKQRLYFKTVKEFKE|EVYKPRRKYKRHQGvE

LH00995:48:23YTGFLT4:1:1322:9648:25339,LH00995:48:23YTGFLT4:1:1322:9656:25325,LH00995:48:23YTGFLT4:3:1181:8370:17633,LH00995:48:23YTGFLT4:4:2221:48076:6843,LH00995:48:23YTGFLT4:8:1435:29372:17492

KANSL1

MAPK8IP1P1(2382),AC005829.2(12125)

-/-

./+

chr17:46170855

chr17:46247426

CDS/splice-site

intergenic

inversion

1545

low

out-of-frame

ENSG00000120071.15

ENST00000574590.6

upstream

CCACTTCAGAGGGACTTAGCAACTTTCTGAAAAGCAATTCAATTTCAGAAGAATTGGAGAGATTTACAGCTAGTGGCATAGCCAACTTGAGGTGCAGTGAACAGGCATTTGATTCAGATGTCACTGACAGTAGTTCAGGAGGGGAGTCTGATATTGAAGAGGAAGAACTGACCAGAGCTGATCCCGAGCAGCGTCATGTACCCCT|AATTCTCAATCGCAATCCTCTGACAACTGTTGAAGATCCGTATCTCTTTAAATTACTGGCATTAAAATATCT___AGACGTGGGAACAACGCAAGTCCCACTTACAACACTTAAGAACATTCTCATGATGACCG

TSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTRADPEQRHVPl|ilnrnplttvedpylfkllalkyldvgttqvplttlknilmmt

LH00995:48:23YTGFLT4:1:2465:38198:18067,LH00995:48:23YTGFLT4:2:2473:17835:27665,LH00995:48:23YTGFLT4:2:2448:22762:20113

PRKN

EML4

-/-

+/+

chr6:161774377

chr2:42303385

intron

CDS

translocation

3747

low

RING/Ubox_like_zinc-binding_domain(84%),Ubiquitin_family(100%)|WD_domain__G-beta_repeat(41%)

ENSG00000185345.23

ENSG00000143924.19

ENST00000318522.10

upstream

duplicates(3),mismappers(2)

GTGTGTGTGTGTGTGTGTGTGTGTGTGCTCAGG|ACAGGCAGGTGTGCCTGTGGAACTCAATGGAACACAGGCTGGAATGGACCAGGCTGGTAGAT___GAACCAGGACACTGTGCAGATTTTCATCCAAGTGGCACAGTGGTGGCCATAGGAACGCACTCAGGCAGGTAGGGTCTTTAAGTGAACTGAGTAATCTGAAGTGGTGGGATGTTT

LH00995:48:23YTGFLT4:3:2225:7707:20435,LH00995:48:23YTGFLT4:3:2357:22123:26012,LH00995:48:23YTGFLT4:5:1260:11169:8805,LH00995:48:23YTGFLT4:5:2307:38999:20631,LH00995:48:23YTGFLT4:7:1108:7181:16245,LH00995:48:23YTGFLT4:8:1346:40050:5554,LH00995:48:23YTGFLT4:8:1449:6388:25045

AGAP3

HOXD11

+/+

chr7:151086814

chr2:176107588

CDS

translocation

165

low

in-frame

|Homeodomain(100%),Protein_of_unknown_function_(DUF3528)(57%)

ENSG00000133612.19

ENSG00000128713.14

ENST00000397238.7

ENST00000249504.7

downstream

upstream

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

CCCGCCTCGGGCCCCACGGCTCCGAAGCCATGAACTTCCAGGCGGGCGGGGGGCAGAGCCCGCAGCAGCAGCAGAGCCTGGCGGCTCCGGGGGGCGGCGGCG|GCGGCGGCGGCGGCAGCGCGGGGGGCGGC

MNFQAGGGQSPQQQQSLAAPGGGG|gGGGGSAGG

LH00995:48:23YTGFLT4:4:1183:5797:4629,LH00995:48:23YTGFLT4:1:1333:24493:22831,LH00995:48:23YTGFLT4:1:2270:25941:23294,LH00995:48:23YTGFLT4:1:2270:25941:23294,LH00995:48:23YTGFLT4:1:2270:25950:23280,LH00995:48:23YTGFLT4:1:2270:25950:23280,LH00995:48:23YTGFLT4:1:2284:37356:13583,LH00995:48:23YTGFLT4:1:2325:2812:17282,LH00995:48:23YTGFLT4:2:1117:25998:25465,LH00995:48:23YTGFLT4:2:2404:33740:12588,LH00995:48:23YTGFLT4:3:1267:16379:23041,LH00995:48:23YTGFLT4:3:1267:16387:23027,LH00995:48:23YTGFLT4:3:1483:22487:12826,LH00995:48:23YTGFLT4:4:1127:24930:23308,LH00995:48:23YTGFLT4:6:2131:14737:17619,LH00995:48:23YTGFLT4:6:2220:6008:28002,LH00995:48:23YTGFLT4:8:2166:24162:29207,LH00995:48:23YTGFLT4:8:2302:5005:10991

MINDY3

NSUN6

-/-

chr10:15816835

chr10:18616293

CDS/splice-site

duplication

938

427

low

out-of-frame

Deubiquitinating_enzyme_MINDY-3/4__conserved_domain(97%)|16S_rRNA_methyltransferase_RsmB/F(100%)

ENSG00000148481.14

ENSG00000241058.4

ENST00000277632.8

ENST00000377304.7

upstream

downstream

duplicates(5)

GCAGCAGTAGGATTTTTAACACTAATGGAAGCTTTAAGATACTGTAAG___GTTGGTTCTTACTTGAAATCTCCAAAATTCCCTATTTGGATTGTTGGCAGTGAGACTCACCTCACCGTATTTTTTGCCAAG|AAAGAATATTAAAAAACAACAGTGTGAAGCCATTGTTGGAGCCCAGTGTGGCAATGCAGTTTTAAGAGGAGCCCATGTCTATGCCCCAGGAATTGTGTCAGCATCACAATtTA

AAVGFLTLMEALRYCKVGSYLKSPKFPIWIVGSETHLTVFFAK|key*

LH00995:48:23YTGFLT4:1:1346:13030:13373,LH00995:48:23YTGFLT4:3:1407:49540:19048,LH00995:48:23YTGFLT4:5:1297:30609:27763,LH00995:48:23YTGFLT4:5:1297:30626:27763,LH00995:48:23YTGFLT4:5:1321:16379:26937,LH00995:48:23YTGFLT4:5:2149:4827:5414,LH00995:48:23YTGFLT4:1:1467:3548:8525

KAT2B

ATRNL1

+/+

chr3:20040780

chr10:115394659

CDS/splice-site

translocation

363

1746

low

out-of-frame

PCAF_(P300/CBP-associated_factor)_N-terminal_domain(11%)|

ENSG00000114166.8

ENSG00000107518.18

ENST00000263754.5

ENST00000355044.8

downstream

upstream

duplicates(2)

GGCTCGGCCCGAATCGCCGTGAAGAAAGCGCAACTACGCTCCGCTCCGCGGGCCAAGAAACTGGAGAAACTCGGAGTGTACTCCGCCTGCAAG|CTTGTACATGCAGTGGCCATGCAAATATCTGTCATCTGCACACAGGAAAATGTTTCTGCACAACTAAAGGAATAAAAGGTGACCAATGCCAATT___ATGTGACTCTGAAAATCGCTATGTTGGTAATCCACTTAGAGGAACATGTTAT

GSARIAVKKAQLRSAPRAKKLEKLGVYSACK|lvhavamqisvictqenvsaqlke*

LH00995:48:23YTGFLT4:3:2405:6566:20477,LH00995:48:23YTGFLT4:6:1215:1947:24134,LH00995:48:23YTGFLT4:6:1215:1963:24134,LH00995:48:23YTGFLT4:8:2411:12277:11229

AC138035.1

SEPTIN14

+/+

-/-

chr5:181317395

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

472

low

ENSG00000238035.8

ENSG00000154997.9

ENST00000499986.8

ENST00000388975.4

downstream

duplicates(1)

GAAAGACTTGTGAATCCAGGAAGAGAGACTGACTGGGCAACATGTTATTCAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGtACCG

LH00995:48:23YTGFLT4:2:1433:5150:19146,LH00995:48:23YTGFLT4:4:2328:1720:24975,LH00995:48:23YTGFLT4:7:2250:48860:19272

AC138035.1

SEPTIN14

+/+

-/-

chr5:181313952

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

472

low

ENSG00000238035.8

ENSG00000154997.9

ENST00000499986.8

ENST00000388975.4

downstream

mismatches(1)

GCTCAAGCAATCCTACCATGTCAGCCTTCCCAGTAGCTGGGACTACAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACCGATACAAAGAAAGACAAACATCGTAAGAAgcAATAGTTTCTCTTACTATTCTGAGAGCCtTATCATT

LH00995:48:23YTGFLT4:7:1133:42146:13219

TUBB6

YES1

+/+

-/-

chr18:12311053

chr18:756835

CDS/splice-site

inversion

6233

1032

low

in-frame

Tubulin/FtsZ_family__GTPase_domain(42%)|Protein_kinase_domain(100%),SH2_domain(100%),SH3_domain(100%)

ENSG00000176014.13

ENSG00000176105.14

ENST00000590967.5

ENST00000577961.5

downstream

duplicates(4)

CTCAGAAATATGTGCCCAGGGCCGCCCTGGTGGACTTAGAGCCAGGCACCATGGACAGCGTGCGGTCTGGGCCTTTTGGGCAGCTTTTCCGGCCTGACAACTTCATCTTTG|ATTTGATAATGGGCTGCATTAAAAGTAAAGAAAACAAAAGTCCAGCCATTAA

QKYVPRAALVDLEPGTMDSVRSGPFGQLFRPDNFIF|dLIMGCIKSKENKSPAI

LH00995:48:23YTGFLT4:3:1147:41329:14326,LH00995:48:23YTGFLT4:4:1421:20796:19454,LH00995:48:23YTGFLT4:5:1402:41337:28856,LH00995:48:23YTGFLT4:7:2120:3605:26642,LH00995:48:23YTGFLT4:8:1478:48432:4965,LH00995:48:23YTGFLT4:8:2231:2125:29263

SDCCAG8

AKT3

+/+

-/-

chr1:243378863

chr1:243843282

CDS/splice-site

5'UTR/splice-site

inversion

581

1591

low

out-of-frame

Centrosomal_colon_cancer_autoantigen_protein_family(76%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000054282.16

ENSG00000117020.19

ENST00000366541.8

ENST00000673466.1

downstream

duplicates(1)

CTAACAGGGATCTTGAAATTAAAGATCAG___GAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAG|GCTGAGTCATCACTAGAGAGTGGG

NRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTr|lshh*

LH00995:48:23YTGFLT4:5:1229:10239:3466,LH00995:48:23YTGFLT4:8:2303:27802:13149

SDCCAG8

AKT3

+/+

-/-

chr1:243286397

chr1:243646037

CDS/splice-site

inversion

507

9455

low

out-of-frame

Centrosomal_colon_cancer_autoantigen_protein_family(25%)|PH_domain(10%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000054282.16

ENSG00000117020.19

ENST00000366541.8

ENST00000336199.9

downstream

GCTAAAATCTCAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCC|GGAAGAATGGACAGAAGCTATCCAGGCTGTAGCAGACAGACTGCAGAGGCAAGAAG

LKSQRQEETLREQTLLDAS|grmdrsypgcsrqtaear

LH00995:48:23YTGFLT4:1:1485:1696:2121

SDCCAG8

AKT3

+/+

-/-

chr1:243426558

chr1:243664883

CDS/splice-site

inversion

483

8591

low

out-of-frame

Centrosomal_colon_cancer_autoantigen_protein_family(93%)|PH_domain(48%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000054282.16

ENSG00000117020.19

ENST00000366541.8

ENST00000336199.9

downstream

duplicates(2)

TGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAG|AATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGA

GKLQRRNEELEEQCVQHGRVHETMKQr|mpvnenrttkakhiynqmspvdycyre

LH00995:48:23YTGFLT4:1:1184:49192:3704,LH00995:48:23YTGFLT4:1:1404:33740:29627,LH00995:48:23YTGFLT4:8:1103:11679:17983

SDCCAG8

AKT3

+/+

-/-

chr1:243489140

chr1:243695716

CDS/splice-site

inversion

330

8657

low

out-of-frame

Centrosomal_colon_cancer_autoantigen_protein_family(99%)|PH_domain(90%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%)

ENSG00000054282.16

ENSG00000117020.19

ENST00000366541.8

ENST00000336199.9

downstream

duplicates(3)

CGGAAGAGGTGGACCGGCTGCGGACCCAG|GAGAATATATAAAAAACTGGAGGCCAAGATACTTCCTTTTGAAGACAGATGGCTCATTCATAGGATATAAAGAGAAACtTCAAGATGTGGATTTACCTTATCCC

EEVDRLRTQ|eni*

LH00995:48:23YTGFLT4:1:2320:29558:18319,LH00995:48:23YTGFLT4:5:1422:21363:23322,LH00995:48:23YTGFLT4:5:1422:21371:23336,LH00995:48:23YTGFLT4:6:2454:25982:27483

STK3

VPS13B

-/-

+/+

chr8:98706467

chr8:99384208

CDS/splice-site

inversion

557

1284

low

out-of-frame

Protein_kinase_domain(80%)|SHR-binding_domain_of_vacuolar-sorting_associated_protein_13(100%),Vacuolar-sorting-associated_13_protein_C-terminal(100%)

ENSG00000104375.17

ENSG00000132549.19

ENST00000523601.5

ENST00000357162.7

upstream

duplicates(1)

TTTGGAGTGGCTGGTCAGTTAACA___GATACAATGGCAAAACGCAATACTGTAATAGGAACTCCATTTTGGATGGCTCCTGAGGTGATTCAAGAAATAGGCTATAACTGTGTGGCCGACATCTGGTCCCTTGGCATTACTTCTATAGAAATGGCTGAAGGAAAACCTCCTTATGCTGATATACATCCAATGAGG|GTGCTGTACTTCTTTGCAGTATACAAGGACTAGCAGTTAATATTG

FGVAGQLTDTMAKRNTVIGTPFWMAPEVIQEIGYNCVADIWSLGITSIEMAEGKPPYADIHPMR|vlyffavykd*

LH00995:48:23YTGFLT4:7:2393:9899:25185,LH00995:48:23YTGFLT4:7:2393:9907:25199

STK3

VPS13B

-/-

+/+

chr8:98706467

chr8:99641811

CDS/splice-site

inversion

557

1495

low

in-frame

Protein_kinase_domain(80%)|SHR-binding_domain_of_vacuolar-sorting_associated_protein_13(100%),Vacuolar-sorting-associated_13_protein_C-terminal(100%)

ENSG00000104375.17

ENSG00000132549.19

ENST00000523601.5

ENST00000357162.7

upstream

duplicates(1)

TGAAGGAAAACCTCCTTATGCTGATATACATCCAATGAGG|ATCTCTAAACAAGAACAGAAAAAAGTGGATATATTTGATGGAGGCATGGCTGAAACCTCATCTCGCTACAGTGGTGCTCAGG

EGKPPYADIHPMR|ISKQEQKKVDIFDGGMAETSSRYSGAQ

LH00995:48:23YTGFLT4:5:1467:42801:9870,LH00995:48:23YTGFLT4:8:2363:48496:3536

VPS13B

STK3

+/+

-/-

chr8:99193057

chr8:98707311

CDS/splice-site

inversion

1635

379

low

out-of-frame

N-terminal_region_of_Chorein_or_VPS13(100%)|C_terminal_SARAH_domain_of_Mst1(100%),Protein_kinase_domain(64%)

ENSG00000132549.19

ENSG00000104375.17

ENST00000357162.7

ENST00000523601.5

downstream

duplicates(1)

CTCAGATTGCTATAACTGAAGGTATATTTGAACTTCCAAATCTCACAATTCAAGCTACAAGAGCACAGACACTTCTCTTGCAAGCAATATATCAAAGTTGGTCTCATCTTGGAAATGTCAGCTCTTCCGCAGTGATTGAAGCTTTGATAAATGAAATCTTCCTAAGTATAG|TTAATAGAAGATGAAATTGCAACCATTCTTAAATCTACATTGAAAGGACTAGAATATTTGCACTTTATGAGA

QIAITEGIFELPNLTIQATRAQTLLLQAIYQSWSHLGNVSSSAVIEALINEIFLSI|vnrr*

LH00995:48:23YTGFLT4:7:1174:34501:26544,LH00995:48:23YTGFLT4:7:1174:34501:26572

VPS13B

STK3

+/+

-/-

chr8:99275254

chr8:98774819

CDS/splice-site

inversion

1248

2172

low

out-of-frame

N-terminal_region_of_Chorein_or_VPS13(100%)|C_terminal_SARAH_domain_of_Mst1(100%),Protein_kinase_domain(100%)

ENSG00000132549.19

ENSG00000104375.17

ENST00000357162.7

ENST00000523601.5

downstream

GCCTTCACAATCCAAGTTCCACAATATATTGACTACTGCCACAATTCCG|TAAACTAAAAAAGCTGAGTGAAGACAGTTTGACTAAGCAGCCTGAAGAAGTTTTTGATGTATTAGAGAAGCTTGGAG

AFTIQVPQYIDYCHNS|vn*

LH00995:48:23YTGFLT4:4:2393:48602:19160

LINC00486

SEC14L1

+/+

chr2:32916558

chr17:77143595

intron

5'UTR/splice-site

translocation

65535

2557

low

|CRAL/TRIO__N-terminal_domain(100%),CRAL/TRIO_domain(100%),PRELI-like_family(100%)

ENSG00000230876.8

ENSG00000129657.16

ENST00000392476.6

downstream

upstream

inconsistently_clipped(1)

GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAG|TCATGGTGCAGAAATACCAGTCCCCAGTGAGGGTGTACAAATACCCCTTTGAATTAATTATGGCT___GCCTATGAAAGGAGGTTCCCTAC

LH00995:48:23YTGFLT4:7:2230:24332:24401

208 rows