aih-tih-sc-1dd7a6-R1_A23WJ53LT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-1dd7a6-R1_A23WJ53LT4_1)

File Info

Filename: aih-tih-sc-1dd7a6-R1_A23WJ53LT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/e6/9b45ce165b9251b170bb1a5a432445/aih-tih-sc-1dd7a6-R1_A23WJ53LT4_1.arriba.fusions.tsv
Size: 393.2 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-1dd7a6-R1_A23WJ53LT4_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

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2864

517

high

out-of-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(167),mismappers(2)

GGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCCTGGGTGGAGCTTCC

EREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:41:23WJ53LT4:1:1104:13750:23616,LH00995:41:23WJ53LT4:1:1188:22382:5638,LH00995:41:23WJ53LT4:1:1249:43117:8230,LH00995:41:23WJ53LT4:1:1347:11355:11537,LH00995:41:23WJ53LT4:1:1370:6825:2906,LH00995:41:23WJ53LT4:1:1404:47275:2569,LH00995:41:23WJ53LT4:1:1404:47283:2555,LH00995:41:23WJ53LT4:1:1439:25052:19146,LH00995:41:23WJ53LT4:1:1452:8629:28562,LH00995:41:23WJ53LT4:1:2110:50689:28436,LH00995:41:23WJ53LT4:1:2159:1089:20771,LH00995:41:23WJ53LT4:1:2166:12528:19146,LH00995:41:23WJ53LT4:1:2278:32284:14466,LH00995:41:23WJ53LT4:1:2286:17496:7460,LH00995:41:23WJ53LT4:1:2302:40463:22495,LH00995:41:23WJ53LT4:1:2377:16177:21514,LH00995:41:23WJ53LT4:1:2489:43739:18922,LH00995:41:23WJ53LT4:2:1114:49322:23181,LH00995:41:23WJ53LT4:2:1140:32454:25465,LH00995:41:23WJ53LT4:2:1250:34784:2233,LH00995:41:23WJ53LT4:2:1270:16767:7432,LH00995:41:23WJ53LT4:2:1324:18677:25171,LH00995:41:23WJ53LT4:2:1424:16525:19959,LH00995:41:23WJ53LT4:2:1458:51279:16343,LH00995:41:23WJ53LT4:2:2111:42421:8791,LH00995:41:23WJ53LT4:2:2166:39217:2345,LH00995:41:23WJ53LT4:2:2166:39225:2359,LH00995:41:23WJ53LT4:2:2361:26977:25536,LH00995:41:23WJ53LT4:2:2447:31985:23756,LH00995:41:23WJ53LT4:3:1129:31208:5764,LH00995:41:23WJ53LT4:3:1207:44500:20463,LH00995:41:23WJ53LT4:3:1213:27616:1617,LH00995:41:23WJ53LT4:3:1301:4479:15152,LH00995:41:23WJ53LT4:3:1316:36200:13905,LH00995:41:23WJ53LT4:3:1343:18305:29067,LH00995:41:23WJ53LT4:3:1345:26613:9800,LH00995:41:23WJ53LT4:3:1390:12383:18389,LH00995:41:23WJ53LT4:3:1474:26718:29403,LH00995:41:23WJ53LT4:3:2123:28053:25269,LH00995:41:23WJ53LT4:3:2134:9551:10570,LH00995:41:23WJ53LT4:3:2293:14268:22299,LH00995:41:23WJ53LT4:3:2351:40706:6969,LH00995:41:23WJ53LT4:3:2365:51474:3256,LH00995:41:23WJ53LT4:3:2405:37858:14844,LH00995:41:23WJ53LT4:3:2405:37866:14858,LH00995:41:23WJ53LT4:3:2419:10740:27231,LH00995:41:23WJ53LT4:3:2419:10757:27231,LH00995:41:23WJ53LT4:3:2451:29533:10991,LH00995:41:23WJ53LT4:3:2491:36717:20547,LH00995:41:23WJ53LT4:4:1102:46021:11299,LH00995:41:23WJ53LT4:4:1120:35609:28969,LH00995:41:23WJ53LT4:4:1162:39751:11397,LH00995:41:23WJ53LT4:4:1198:24178:27946,LH00995:41:23WJ53LT4:4:1198:24186:27960,LH00995:41:23WJ53LT4:4:1214:23911:5988,LH00995:41:23WJ53LT4:4:1329:4276:20491,LH00995:41:23WJ53LT4:4:1348:10085:24330,LH00995:41:23WJ53LT4:4:1348:10093:24344,LH00995:41:23WJ53LT4:4:1356:28441:28492,LH00995:41:23WJ53LT4:4:1388:31782:7712,LH00995:41:23WJ53LT4:4:2183:40884:25241,LH00995:41:23WJ53LT4:4:2209:50551:23462,LH00995:41:23WJ53LT4:4:2234:49119:23420,LH00995:41:23WJ53LT4:4:2265:1073:18109,LH00995:41:23WJ53LT4:4:2326:47647:8146,LH00995:41:23WJ53LT4:4:2398:31742:13247,LH00995:41:23WJ53LT4:4:2478:45649:11495,LH00995:41:23WJ53LT4:5:1155:34897:21850,LH00995:41:23WJ53LT4:5:1155:34913:21850,LH00995:41:23WJ53LT4:5:1184:4018:22929,LH00995:41:23WJ53LT4:5:1247:45811:9674,LH00995:41:23WJ53LT4:5:1257:16517:3046,LH00995:41:23WJ53LT4:5:1265:9713:19903,LH00995:41:23WJ53LT4:5:1346:51878:21612,LH00995:41:23WJ53LT4:5:1365:39169:24232,LH00995:41:23WJ53LT4:5:1365:39185:24232,LH00995:41:23WJ53LT4:5:1369:1129:11257,LH00995:41:23WJ53LT4:5:1374:19745:8525,LH00995:41:23WJ53LT4:5:1388:51320:24316,LH00995:41:23WJ53LT4:5:1490:43319:25732,LH00995:41:23WJ53LT4:5:2105:4802:7137,LH00995:41:23WJ53LT4:5:2125:26686:6703,LH00995:41:23WJ53LT4:5:2194:9357:9505,LH00995:41:23WJ53LT4:5:2235:14357:28870,LH00995:41:23WJ53LT4:5:2237:24954:10486,LH00995:41:23WJ53LT4:5:2241:31969:17703,LH00995:41:23WJ53LT4:5:2256:27252:15026,LH00995:41:23WJ53LT4:5:2256:27268:15026,LH00995:41:23WJ53LT4:5:2258:6623:11215,LH00995:41:23WJ53LT4:5:2275:3120:4699,LH00995:41:23WJ53LT4:5:2277:36742:25690,LH00995:41:23WJ53LT4:5:2358:50317:2317,LH00995:41:23WJ53LT4:5:2409:24688:4755,LH00995:41:23WJ53LT4:5:2413:13895:22299,LH00995:41:23WJ53LT4:5:2417:24170:9407,LH00995:41:23WJ53LT4:5:2437:8467:24190,LH00995:41:23WJ53LT4:5:2479:30642:4083,LH00995:41:23WJ53LT4:5:2493:16695:20533,LH00995:41:23WJ53LT4:6:1152:12601:2037,LH00995:41:23WJ53LT4:6:1213:24599:19286,LH00995:41:23WJ53LT4:6:1235:51927:11187,LH00995:41:23WJ53LT4:6:1250:50778:8132,LH00995:41:23WJ53LT4:6:1250:50794:8132,LH00995:41:23WJ53LT4:6:1315:40827:2808,LH00995:41:23WJ53LT4:6:1367:6970:26811,LH00995:41:23WJ53LT4:6:1385:23482:14326,LH00995:41:23WJ53LT4:6:1388:25586:24667,LH00995:41:23WJ53LT4:6:1482:39484:28282,LH00995:41:23WJ53LT4:6:1482:39492:28268,LH00995:41:23WJ53LT4:6:1482:39500:28282,LH00995:41:23WJ53LT4:6:2128:50042:23868,LH00995:41:23WJ53LT4:6:2185:45560:10164,LH00995:41:23WJ53LT4:6:2196:40075:17114,LH00995:41:23WJ53LT4:6:2269:10312:1967,LH00995:41:23WJ53LT4:6:2273:44710:26236,LH00995:41:23WJ53LT4:6:2283:6914:8861,LH00995:41:23WJ53LT4:6:2346:24582:28478,LH00995:41:23WJ53LT4:6:2363:33182:16610,LH00995:41:23WJ53LT4:6:2376:40568:13345,LH00995:41:23WJ53LT4:6:2386:22875:9127,LH00995:41:23WJ53LT4:6:2426:11760:10556,LH00995:41:23WJ53LT4:6:2434:20651:10150,LH00995:41:23WJ53LT4:6:2441:16290:21318,LH00995:41:23WJ53LT4:6:2481:34695:11495,LH00995:41:23WJ53LT4:6:2484:2011:16736,LH00995:41:23WJ53LT4:7:1133:19688:4755,LH00995:41:23WJ53LT4:7:1133:19696:4769,LH00995:41:23WJ53LT4:7:1159:27673:18473,LH00995:41:23WJ53LT4:7:1191:3467:22929,LH00995:41:23WJ53LT4:1:1107:5369:2766,LH00995:41:23WJ53LT4:1:1125:29719:15152,LH00995:41:23WJ53LT4:1:1125:29728:15166,LH00995:41:23WJ53LT4:1:1132:36272:8062,LH00995:41:23WJ53LT4:1:1132:36280:8048,LH00995:41:23WJ53LT4:1:1184:13863:2709,LH00995:41:23WJ53LT4:1:1184:13871:2695,LH00995:41:23WJ53LT4:1:1197:35124:12098,LH00995:41:23WJ53LT4:1:1292:25424:24891,LH00995:41:23WJ53LT4:1:1305:1518:8819,LH00995:41:23WJ53LT4:1:1352:32316:18613,LH00995:41:23WJ53LT4:1:1364:14923:27918,LH00995:41:23WJ53LT4:1:1434:1227:27707,LH00995:41:23WJ53LT4:1:1441:27883:9590,LH00995:41:23WJ53LT4:1:1484:41086:11411,LH00995:41:23WJ53LT4:1:2120:4115:10991,LH00995:41:23WJ53LT4:1:2150:29355:9870,LH00995:41:23WJ53LT4:1:2296:6048:27707,LH00995:41:23WJ53LT4:1:2328:43384:25451,LH00995:41:23WJ53LT4:1:2368:36159:23896,LH00995:41:23WJ53LT4:1:2452:14001:28674,LH00995:41:23WJ53LT4:1:2458:40463:3746,LH00995:41:23WJ53LT4:1:2471:7068:23588,LH00995:41:23WJ53LT4:1:2475:4325:23434,LH00995:41:23WJ53LT4:1:2489:25464:28044,LH00995:41:23WJ53LT4:2:1105:7990:8511,LH00995:41:23WJ53LT4:2:1191:50203:4867,LH00995:41:23WJ53LT4:2:1195:31313:19146,LH00995:41:23WJ53LT4:2:1219:10166:29179,LH00995:41:23WJ53LT4:2:1219:10174:29165,LH00995:41:23WJ53LT4:2:1220:21096:2317,LH00995:41:23WJ53LT4:2:1253:18879:8118,LH00995:41:23WJ53LT4:2:1270:9414:6437,LH00995:41:23WJ53LT4:2:1316:8645:23322,LH00995:41:23WJ53LT4:2:1397:36208:2177,LH00995:41:23WJ53LT4:2:2139:45074:4755,LH00995:41:23WJ53LT4:2:2203:4835:1953,LH00995:41:23WJ53LT4:2:2317:17051:5568,LH00995:41:23WJ53LT4:2:2353:28959:26671,LH00995:41:23WJ53LT4:2:2435:45317:10360,LH00995:41:23WJ53LT4:2:2461:49055:24176,LH00995:41:23WJ53LT4:3:1167:14535:14382,LH00995:41:23WJ53LT4:3:1222:31224:18992,LH00995:41:23WJ53LT4:3:1256:31588:12476,LH00995:41:23WJ53LT4:3:1256:31596:12462,LH00995:41:23WJ53LT4:3:1256:31604:12476,LH00995:41:23WJ53LT4:3:1401:41361:6339,LH00995:41:23WJ53LT4:3:1423:12051:29389,LH00995:41:23WJ53LT4:3:1424:39387:5078,LH00995:41:23WJ53LT4:3:1472:36944:23826,LH00995:41:23WJ53LT4:3:2114:25262:10150,LH00995:41:23WJ53LT4:3:2206:12108:7095,LH00995:41:23WJ53LT4:3:2252:29226:23238,LH00995:41:23WJ53LT4:3:2431:28935:19230,LH00995:41:23WJ53LT4:3:2437:13726:23153,LH00995:41:23WJ53LT4:3:2437:13742:23153,LH00995:41:23WJ53LT4:3:2484:6145:7586,LH00995:41:23WJ53LT4:3:2488:51943:5302,LH00995:41:23WJ53LT4:4:1109:40237:21010,LH00995:41:23WJ53LT4:4:1135:46587:3480,LH00995:41:23WJ53LT4:4:1147:52202:23322,LH00995:41:23WJ53LT4:4:1222:19866:13387,LH00995:41:23WJ53LT4:4:1223:13224:17464,LH00995:41:23WJ53LT4:4:1229:44160:3312,LH00995:41:23WJ53LT4:4:1274:14729:14942,LH00995:41:23WJ53LT4:4:1280:30051:11215,LH00995:41:23WJ53LT4:4:1283:31977:8861,LH00995:41:23WJ53LT4:4:1316:19235:6072,LH00995:41:23WJ53LT4:4:1424:5013:3158,LH00995:41:23WJ53LT4:4:1468:12981:7011,LH00995:41:23WJ53LT4:4:1488:28077:29291,LH00995:41:23WJ53LT4:4:2147:1849:13009,LH00995:41:23WJ53LT4:4:2176:46676:5344,LH00995:41:23WJ53LT4:4:2192:13475:13443,LH00995:41:23WJ53LT4:4:2201:5328:20799,LH00995:41:23WJ53LT4:4:2208:51854:29193,LH00995:41:23WJ53LT4:4:2236:11137:1182,LH00995:41:23WJ53LT4:4:2365:32381:27834,LH00995:41:23WJ53LT4:4:2432:4471:16119,LH00995:41:23WJ53LT4:4:2460:29372:3144,LH00995:41:23WJ53LT4:5:1113:45196:22929,LH00995:41:23WJ53LT4:5:1131:29056:16554,LH00995:41:23WJ53LT4:5:1193:23903:27665,LH00995:41:23WJ53LT4:5:1214:14235:21710,LH00995:41:23WJ53LT4:5:1250:11962:11495,LH00995:41:23WJ53LT4:5:1274:50818:14059,LH00995:41:23WJ53LT4:5:1275:22770:13261,LH00995:41:23WJ53LT4:5:1338:47574:2163,LH00995:41:23WJ53LT4:5:1349:12836:17156,LH00995:41:23WJ53LT4:5:1349:12844:17170,LH00995:41:23WJ53LT4:5:1386:8734:24148,LH00995:41:23WJ53LT4:5:1467:44338:17352,LH00995:41:23WJ53LT4:5:2127:37947:27721,LH00995:41:23WJ53LT4:5:2152:11897:25676,LH00995:41:23WJ53LT4:5:2152:37470:22299,LH00995:41:23WJ53LT4:5:2175:50195:9814,LH00995:41:23WJ53LT4:5:2316:13467:3368,LH00995:41:23WJ53LT4:5:2331:13078:10150,LH00995:41:23WJ53LT4:5:2336:37931:14466,LH00995:41:23WJ53LT4:5:2377:26459:2639,LH00995:41:23WJ53LT4:5:2386:33506:4335,LH00995:41:23WJ53LT4:5:2420:8208:12616,LH00995:41:23WJ53LT4:5:2472:25577:18515,LH00995:41:23WJ53LT4:5:2491:22325:1280,LH00995:41:23WJ53LT4:6:1173:19316:22831,LH00995:41:23WJ53LT4:6:1175:2068:12574,LH00995:41:23WJ53LT4:6:1227:1704:19903,LH00995:41:23WJ53LT4:6:1228:41539:8833,LH00995:41:23WJ53LT4:6:1228:41547:8819,LH00995:41:23WJ53LT4:6:1297:8718:6381,LH00995:41:23WJ53LT4:6:1302:9292:15587,LH00995:41:23WJ53LT4:6:1308:38675:28618,LH00995:41:23WJ53LT4:6:1315:22568:25129,LH00995:41:23WJ53LT4:6:1334:44322:23209,LH00995:41:23WJ53LT4:6:1349:38675:8328,LH00995:41:23WJ53LT4:6:1364:22333:20155,LH00995:41:23WJ53LT4:6:1365:1243:24597,LH00995:41:23WJ53LT4:6:1383:1332:9954,LH00995:41:23WJ53LT4:6:1391:15036:5246,LH00995:41:23WJ53LT4:6:1395:30116:5386,LH00995:41:23WJ53LT4:6:1395:30132:5386,LH00995:41:23WJ53LT4:6:1395:30132:5414,LH00995:41:23WJ53LT4:6:1439:16274:10753,LH00995:41:23WJ53LT4:6:2101:43246:10697,LH00995:41:23WJ53LT4:6:2131:11460:2780,LH00995:41:23WJ53LT4:6:2155:31006:18109,LH00995:41:23WJ53LT4:6:2198:36774:17422,LH00995:41:23WJ53LT4:6:2239:46353:3186,LH00995:41:23WJ53LT4:6:2254:31224:10108,LH00995:41:23WJ53LT4:6:2259:25739:12210,LH00995:41:23WJ53LT4:6:2261:47315:19342,LH00995:41:23WJ53LT4:6:2287:1922:17591,LH00995:41:23WJ53LT4:6:2366:6817:23770,LH00995:41:23WJ53LT4:6:2370:10174:7838,LH00995:41:23WJ53LT4:6:2393:47275:3746,LH00995:41:23WJ53LT4:6:2412:24388:15783,LH00995:41:23WJ53LT4:6:2445:29121:29417,LH00995:41:23WJ53LT4:7:1116:45463:18039

STX16

NPEPL1

+/+

chr20:58673711

chr20:58693737

CDS/splice-site

deletion/read-through

2864

7033

low

in-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(9)

GCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCCAACCCCACGGACAGCTGTCCCCTCTACCTGAACTACGC

QIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|LWQAALSTLNPNPTDSCPLYLNY

LH00995:41:23WJ53LT4:1:1114:46369:13527,LH00995:41:23WJ53LT4:1:1114:46377:13541,LH00995:41:23WJ53LT4:1:1114:46385:13527,LH00995:41:23WJ53LT4:1:2169:46450:9716,LH00995:41:23WJ53LT4:1:2169:46458:9702,LH00995:41:23WJ53LT4:1:2169:46466:9688,LH00995:41:23WJ53LT4:3:1215:14470:12924,LH00995:41:23WJ53LT4:4:2472:51077:8791,LH00995:41:23WJ53LT4:6:2112:11493:4797,LH00995:41:23WJ53LT4:6:2112:11501:4783,LH00995:41:23WJ53LT4:5:1213:46021:9786

STX16

NPEPL1

+/+

chr20:58671297

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3711

517

low

out-of-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

GGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACT

EREIRQIVQSISDLNEIFRDLGAMIVEQ|agyeeetqnnrsglwn

LH00995:41:23WJ53LT4:4:1206:43084:17422

OSBPL10

GADL1

-/-

chr3:31733257

chr3:30728415

CDS/splice-site

deletion

777

101

high

in-frame

Pleckstrin_homology_domain(100%)|

ENSG00000144645.15

ENSG00000144644.14

ENST00000396556.7

ENST00000282538.9

upstream

downstream

duplicates(75),mismappers(3)

AAAACATCCTGGGATGGCACGGGTCCAAGTCACATTCCACAGAGCAGCTGAAAAATGGGACACTTGGCTCTTTGCCATCAGCCAGTGCCAACATAACCTGGGCAATTTTACCAAACTCTGCTGAAGACGAACAAACCTCACAGCCAGAGCCAGAG|GTGGCCCCAGCCATTAAGGAGAGGATGATGAAGAAGGGAAGCTTGATGCTGGGCTACCAGCCGCACCGGGGAAAGGTCAACTTCTTCCaCCAGGTGGTGATCAGCCCTCAAGTGAGCCGGGAGGACATGGACTTCCTCCTGGATGAGATAGA

NILGWHGSKSHSTEQLKNGTLGSLPSASANITWAILPNSAEDEQTSQPEPE|VAPAIKERMMKKGSLMLGYQPHRGKVNFFhQVVISPQVSREDMDFLLDEI

LH00995:41:23WJ53LT4:1:1110:48149:20281,LH00995:41:23WJ53LT4:1:1110:48157:20267,LH00995:41:23WJ53LT4:1:1185:10708:2597,LH00995:41:23WJ53LT4:1:1288:24623:5568,LH00995:41:23WJ53LT4:1:1288:24631:5582,LH00995:41:23WJ53LT4:1:1348:42979:15671,LH00995:41:23WJ53LT4:1:1394:5644:7165,LH00995:41:23WJ53LT4:1:1394:5652:7151,LH00995:41:23WJ53LT4:1:1458:36976:25339,LH00995:41:23WJ53LT4:1:1464:5538:25816,LH00995:41:23WJ53LT4:2:1212:13556:4783,LH00995:41:23WJ53LT4:2:2163:13030:25984,LH00995:41:23WJ53LT4:2:2232:44411:6465,LH00995:41:23WJ53LT4:2:2481:42712:27455,LH00995:41:23WJ53LT4:3:1114:42461:16287,LH00995:41:23WJ53LT4:3:1274:30658:24232,LH00995:41:23WJ53LT4:3:1434:39161:7123,LH00995:41:23WJ53LT4:3:1435:4543:6605,LH00995:41:23WJ53LT4:3:1437:2610:18277,LH00995:41:23WJ53LT4:3:2284:37284:21164,LH00995:41:23WJ53LT4:3:2412:46247:18109,LH00995:41:23WJ53LT4:3:2432:29380:18291,LH00995:41:23WJ53LT4:3:2494:19219:12014,LH00995:41:23WJ53LT4:4:1210:32672:11019,LH00995:41:23WJ53LT4:4:1304:39622:7446,LH00995:41:23WJ53LT4:4:1483:22770:5750,LH00995:41:23WJ53LT4:4:1483:22778:5764,LH00995:41:23WJ53LT4:4:2158:2974:13163,LH00995:41:23WJ53LT4:4:2338:21071:4713,LH00995:41:23WJ53LT4:5:1373:31693:10360,LH00995:41:23WJ53LT4:5:1373:31702:10374,LH00995:41:23WJ53LT4:5:1389:13054:18740,LH00995:41:23WJ53LT4:5:2306:22074:7460,LH00995:41:23WJ53LT4:5:2315:7553:7866,LH00995:41:23WJ53LT4:6:1158:15327:1182,LH00995:41:23WJ53LT4:6:1298:12334:24555,LH00995:41:23WJ53LT4:6:1389:4252:18403,LH00995:41:23WJ53LT4:6:2313:25642:23728,LH00995:41:23WJ53LT4:1:1187:39945:16610,LH00995:41:23WJ53LT4:1:1253:43764:20029,LH00995:41:23WJ53LT4:1:1315:2990:21486,LH00995:41:23WJ53LT4:1:2173:24210:19875,LH00995:41:23WJ53LT4:1:2345:20966:12602,LH00995:41:23WJ53LT4:1:2421:21654:19090,LH00995:41:23WJ53LT4:2:1295:21484:8062,LH00995:41:23WJ53LT4:2:1330:3079:26909,LH00995:41:23WJ53LT4:2:1457:28474:7446,LH00995:41:23WJ53LT4:2:2138:5708:3830,LH00995:41:23WJ53LT4:2:2139:17665:21934,LH00995:41:23WJ53LT4:2:2201:11655:23125,LH00995:41:23WJ53LT4:2:2230:50033:24415,LH00995:41:23WJ53LT4:2:2323:22786:15811,LH00995:41:23WJ53LT4:2:2380:15352:18515,LH00995:41:23WJ53LT4:2:2380:15368:18515,LH00995:41:23WJ53LT4:2:2439:32041:26769,LH00995:41:23WJ53LT4:2:2458:21403:7278,LH00995:41:23WJ53LT4:2:2472:36709:29025,LH00995:41:23WJ53LT4:2:2472:36717:29011,LH00995:41:23WJ53LT4:3:1106:26815:6703,LH00995:41:23WJ53LT4:3:1113:12585:15236,LH00995:41:23WJ53LT4:3:1140:19607:5904,LH00995:41:23WJ53LT4:3:1157:7043:20659,LH00995:41:23WJ53LT4:3:1157:7059:20659,LH00995:41:23WJ53LT4:3:1183:14211:7796,LH00995:41:23WJ53LT4:3:1215:14203:6829,LH00995:41:23WJ53LT4:3:1341:50559:17955,LH00995:41:23WJ53LT4:3:1341:50576:17955,LH00995:41:23WJ53LT4:3:1461:3613:13457,LH00995:41:23WJ53LT4:3:2147:7933:24218,LH00995:41:23WJ53LT4:3:2213:38028:29319,LH00995:41:23WJ53LT4:3:2257:13402:13093,LH00995:41:23WJ53LT4:3:2289:33222:2191,LH00995:41:23WJ53LT4:3:2488:19429:25465,LH00995:41:23WJ53LT4:4:1126:47606:22621,LH00995:41:23WJ53LT4:4:1133:10174:15797,LH00995:41:23WJ53LT4:4:1172:20513:21486,LH00995:41:23WJ53LT4:4:1172:20521:21500,LH00995:41:23WJ53LT4:4:1254:11655:2387,LH00995:41:23WJ53LT4:4:1268:8977:23812,LH00995:41:23WJ53LT4:4:1311:49597:8328,LH00995:41:23WJ53LT4:4:1328:39816:25073,LH00995:41:23WJ53LT4:4:1384:20909:2583,LH00995:41:23WJ53LT4:4:1384:20926:2583,LH00995:41:23WJ53LT4:4:1437:20303:16694,LH00995:41:23WJ53LT4:4:1452:6121:29403,LH00995:41:23WJ53LT4:4:1472:2756:26657,LH00995:41:23WJ53LT4:4:1492:35261:12728,LH00995:41:23WJ53LT4:4:1497:17374:24176,LH00995:41:23WJ53LT4:4:2103:40609:9323,LH00995:41:23WJ53LT4:4:2124:12852:9113,LH00995:41:23WJ53LT4:4:2169:34040:16554,LH00995:41:23WJ53LT4:4:2238:20998:1224,LH00995:41:23WJ53LT4:4:2311:23636:12938,LH00995:41:23WJ53LT4:4:2327:28684:23700,LH00995:41:23WJ53LT4:4:2358:33635:3242,LH00995:41:23WJ53LT4:4:2421:16185:17829,LH00995:41:23WJ53LT4:4:2440:14082:17857,LH00995:41:23WJ53LT4:4:2485:47064:20337,LH00995:41:23WJ53LT4:4:2486:35722:7221,LH00995:41:23WJ53LT4:5:1106:28603:21262,LH00995:41:23WJ53LT4:5:1179:11315:26853,LH00995:41:23WJ53LT4:5:1207:49977:18263,LH00995:41:23WJ53LT4:5:1224:1413:20631,LH00995:41:23WJ53LT4:5:1227:44735:25157,LH00995:41:23WJ53LT4:5:1262:34590:8707,LH00995:41:23WJ53LT4:5:1437:32891:13275,LH00995:41:23WJ53LT4:5:2107:6178:21430,LH00995:41:23WJ53LT4:6:1167:33344:18908,LH00995:41:23WJ53LT4:6:1321:37203:11719,LH00995:41:23WJ53LT4:6:1379:11282:2976,LH00995:41:23WJ53LT4:6:1464:12747:14340,LH00995:41:23WJ53LT4:6:2177:49030:12000,LH00995:41:23WJ53LT4:6:2221:26516:8427,LH00995:41:23WJ53LT4:6:2244:7173:12280,LH00995:41:23WJ53LT4:6:2249:10069:2331,LH00995:41:23WJ53LT4:6:2314:25472:10542,LH00995:41:23WJ53LT4:6:2345:8977:25886,LH00995:41:23WJ53LT4:6:2360:49038:17058,LH00995:41:23WJ53LT4:6:2426:6752:7039,LH00995:41:23WJ53LT4:7:1172:25448:29333,LH00995:41:23WJ53LT4:7:1195:4382:27315

OSBPL10

GADL1

-/-

chr3:31747910

chr3:30728415

CDS/splice-site

deletion

1361

101

medium

out-of-frame

Pleckstrin_homology_domain(100%)|

ENSG00000144645.15

ENSG00000144644.14

ENST00000396556.7

ENST00000282538.9

upstream

downstream

duplicates(2)

CCTGAAAGCTACCTCTGCTGCCACCCTCAGCTGCCTTGGGGAGTGCCTCAACTTGTTACAGCAGAGTGTGCACCAGGCGGGCCAGCCCAGCCAGAAGCCAGGAGCCTCGG|GTGGCCCCAGCCATTAAGGAGAGGATGATGAAGAAGGGAAGCTTGATGCTGGGCTACCAGCCGCACCGGGGAAAGGTCAACTTCTTCCaCCAGGTGGTGATCAGCCCTCAAGTGAGCCGGGAGGACATGGACTTCCTCCTGGATGAGATAG

LKATSAATLSCLGECLNLLQQSVHQAGQPSQKPGAS|ggpsh*

LH00995:41:23WJ53LT4:1:2376:22341:13331,LH00995:41:23WJ53LT4:1:2406:39719:29221,LH00995:41:23WJ53LT4:5:2408:46401:16666,LH00995:41:23WJ53LT4:6:1130:17026:9169,LH00995:41:23WJ53LT4:6:1162:3597:14101

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

614

161

high

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(45),mismappers(1)

CCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAAC

SDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKA

LH00995:41:23WJ53LT4:1:1168:11630:25578,LH00995:41:23WJ53LT4:1:1168:11638:25564,LH00995:41:23WJ53LT4:1:1174:49338:26236,LH00995:41:23WJ53LT4:1:1190:19761:7684,LH00995:41:23WJ53LT4:1:1191:40948:9267,LH00995:41:23WJ53LT4:1:1296:17204:27553,LH00995:41:23WJ53LT4:1:1352:5862:11103,LH00995:41:23WJ53LT4:1:2112:21937:19328,LH00995:41:23WJ53LT4:1:2220:20537:26881,LH00995:41:23WJ53LT4:1:2220:20545:26867,LH00995:41:23WJ53LT4:1:2358:51522:28618,LH00995:41:23WJ53LT4:2:1126:33603:17254,LH00995:41:23WJ53LT4:2:2115:18070:27175,LH00995:41:23WJ53LT4:2:2117:47364:23041,LH00995:41:23WJ53LT4:2:2166:37348:3424,LH00995:41:23WJ53LT4:2:2355:32017:21654,LH00995:41:23WJ53LT4:3:1450:45802:4615,LH00995:41:23WJ53LT4:3:2151:39177:29403,LH00995:41:23WJ53LT4:3:2151:39193:29403,LH00995:41:23WJ53LT4:3:2188:5142:1252,LH00995:41:23WJ53LT4:3:2319:38764:28604,LH00995:41:23WJ53LT4:3:2343:10206:9071,LH00995:41:23WJ53LT4:4:1112:12933:4881,LH00995:41:23WJ53LT4:4:1444:21257:16189,LH00995:41:23WJ53LT4:4:2235:25553:15251,LH00995:41:23WJ53LT4:5:1258:19591:11033,LH00995:41:23WJ53LT4:5:1426:30367:16890,LH00995:41:23WJ53LT4:6:1180:27608:19734,LH00995:41:23WJ53LT4:6:2226:12286:1238,LH00995:41:23WJ53LT4:6:2226:12302:1238,LH00995:41:23WJ53LT4:1:1152:45738:1785,LH00995:41:23WJ53LT4:1:1152:45746:1771,LH00995:41:23WJ53LT4:1:1160:9260:19538,LH00995:41:23WJ53LT4:1:1166:2990:25550,LH00995:41:23WJ53LT4:1:1220:7618:28660,LH00995:41:23WJ53LT4:1:1220:7626:28674,LH00995:41:23WJ53LT4:1:1344:3443:2794,LH00995:41:23WJ53LT4:1:2124:43117:3074,LH00995:41:23WJ53LT4:1:2181:37850:11888,LH00995:41:23WJ53LT4:1:2189:18256:13121,LH00995:41:23WJ53LT4:1:2267:34590:11958,LH00995:41:23WJ53LT4:1:2273:34064:2415,LH00995:41:23WJ53LT4:1:2434:50940:9618,LH00995:41:23WJ53LT4:2:1261:3961:20057,LH00995:41:23WJ53LT4:2:1433:26686:2639,LH00995:41:23WJ53LT4:2:2249:45964:28016,LH00995:41:23WJ53LT4:2:2249:45980:28016,LH00995:41:23WJ53LT4:2:2255:35027:2345,LH00995:41:23WJ53LT4:2:2267:38327:18487,LH00995:41:23WJ53LT4:2:2481:14818:1476,LH00995:41:23WJ53LT4:3:1161:46393:29235,LH00995:41:23WJ53LT4:3:1295:23968:27049,LH00995:41:23WJ53LT4:3:1424:24817:17703,LH00995:41:23WJ53LT4:3:2184:4001:5330,LH00995:41:23WJ53LT4:3:2188:27390:19216,LH00995:41:23WJ53LT4:3:2188:27406:19216,LH00995:41:23WJ53LT4:3:2198:40544:20982,LH00995:41:23WJ53LT4:3:2223:13240:22593,LH00995:41:23WJ53LT4:4:1202:8572:29361,LH00995:41:23WJ53LT4:4:1240:3977:6465,LH00995:41:23WJ53LT4:4:1355:36386:21794,LH00995:41:23WJ53LT4:4:1355:36394:21808,LH00995:41:23WJ53LT4:4:1380:31823:23924,LH00995:41:23WJ53LT4:4:1455:7715:24457,LH00995:41:23WJ53LT4:4:1455:7723:24471,LH00995:41:23WJ53LT4:4:2415:33813:7670,LH00995:41:23WJ53LT4:5:2193:7585:17927,LH00995:41:23WJ53LT4:5:2469:24655:22999,LH00995:41:23WJ53LT4:6:1238:19025:17703,LH00995:41:23WJ53LT4:6:1442:51951:4587,LH00995:41:23WJ53LT4:6:2314:23927:18459,LH00995:41:23WJ53LT4:6:2490:27754:27441,LH00995:41:23WJ53LT4:7:1123:1542:24387,LH00995:41:23WJ53LT4:7:1127:5708:25634,LH00995:41:23WJ53LT4:2:2417:38319:15166,LH00995:41:23WJ53LT4:6:1180:21225:26502

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

614

314

medium

in-frame

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

duplicates(26)

AAAAATTCAA___...CTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACTGG

TVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLPSFTTAEL

LH00995:41:23WJ53LT4:1:1127:25820:1308,LH00995:41:23WJ53LT4:4:1181:15497:9071,LH00995:41:23WJ53LT4:4:1181:15513:9071,LH00995:41:23WJ53LT4:4:1389:11735:18529,LH00995:41:23WJ53LT4:4:2245:2165:9043,LH00995:41:23WJ53LT4:4:2322:12577:15867,LH00995:41:23WJ53LT4:4:2430:14106:4167,LH00995:41:23WJ53LT4:4:2430:14114:4153,LH00995:41:23WJ53LT4:5:1335:39274:13345,LH00995:41:23WJ53LT4:5:1490:4721:14592,LH00995:41:23WJ53LT4:6:1385:48699:22607,LH00995:41:23WJ53LT4:6:2422:5789:6689,LH00995:41:23WJ53LT4:1:1363:10813:14270,LH00995:41:23WJ53LT4:1:2273:5668:14045,LH00995:41:23WJ53LT4:2:1329:36094:12938,LH00995:41:23WJ53LT4:2:1455:37478:7712,LH00995:41:23WJ53LT4:2:1477:27721:1126,LH00995:41:23WJ53LT4:2:1477:27746:1112,LH00995:41:23WJ53LT4:2:1477:27754:1098,LH00995:41:23WJ53LT4:2:1477:27762:1084,LH00995:41:23WJ53LT4:2:1477:27762:1112,LH00995:41:23WJ53LT4:2:1493:47178:20561,LH00995:41:23WJ53LT4:2:1493:47186:20575,LH00995:41:23WJ53LT4:2:2307:38287:23294,LH00995:41:23WJ53LT4:3:1215:33287:28058,LH00995:41:23WJ53LT4:3:2263:28927:23111,LH00995:41:23WJ53LT4:3:2311:37712:12126,LH00995:41:23WJ53LT4:3:2379:18102:28520,LH00995:41:23WJ53LT4:3:2427:24057:14087,LH00995:41:23WJ53LT4:4:1228:30852:29137,LH00995:41:23WJ53LT4:4:1457:35892:3424,LH00995:41:23WJ53LT4:4:2391:26386:13079,LH00995:41:23WJ53LT4:4:2453:14381:21514,LH00995:41:23WJ53LT4:5:2275:17390:3130,LH00995:41:23WJ53LT4:5:2292:46603:12224,LH00995:41:23WJ53LT4:6:1217:31305:12462,LH00995:41:23WJ53LT4:6:1314:6865:1631,LH00995:41:23WJ53LT4:6:1364:40374:8300,LH00995:41:23WJ53LT4:6:2419:17164:2093,LH00995:41:23WJ53LT4:6:2419:17172:2079

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

451

314

medium

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(16),mismatches(1)

AGGCCCTTTGGACCATGAACCTCCAGAGGCAGAAGTCTCTGAAAGCTAAAATGAACCGCCGAGCATGTCTGGGGAGTTTACAGGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___GT

ALWTMNLQRQKSLKAKMNRRACLGSLQELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:41:23WJ53LT4:1:1298:29137:25381,LH00995:41:23WJ53LT4:2:1151:8378:25942,LH00995:41:23WJ53LT4:2:1358:26435:23532,LH00995:41:23WJ53LT4:2:2335:40665:2219,LH00995:41:23WJ53LT4:3:2162:5919:13723,LH00995:41:23WJ53LT4:3:2312:36855:20533,LH00995:41:23WJ53LT4:4:1415:37947:3732,LH00995:41:23WJ53LT4:4:1415:37955:3718,LH00995:41:23WJ53LT4:5:1362:1162:1617,LH00995:41:23WJ53LT4:5:2298:42348:14578,LH00995:41:23WJ53LT4:5:2493:22139:9674,LH00995:41:23WJ53LT4:6:1120:37502:9491,LH00995:41:23WJ53LT4:6:1271:1162:10276,LH00995:41:23WJ53LT4:6:1382:29420:12476,LH00995:41:23WJ53LT4:2:2112:15020:21332,LH00995:41:23WJ53LT4:2:2181:4527:12406,LH00995:41:23WJ53LT4:2:2282:8621:16610,LH00995:41:23WJ53LT4:3:2185:3063:5246,LH00995:41:23WJ53LT4:3:2351:14988:12700,LH00995:41:23WJ53LT4:4:2110:32972:24064,LH00995:41:23WJ53LT4:4:2126:15926:20071,LH00995:41:23WJ53LT4:4:2316:11752:13793,LH00995:41:23WJ53LT4:4:2432:45754:1140,LH00995:41:23WJ53LT4:4:2440:46895:2527,LH00995:41:23WJ53LT4:5:1254:17245:22747,LH00995:41:23WJ53LT4:5:2321:43594:1126,LH00995:41:23WJ53LT4:6:1221:35981:1168,LH00995:41:23WJ53LT4:6:1264:21225:11705,LH00995:41:23WJ53LT4:6:2116:44815:12238

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48620851

CDS/splice-site

deletion/read-through

451

161

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

duplicates(4)

GGCAGAAGTCTCTGAAAGCTAAAATGAACCGCCGAGCATGTCTGGGGAGTTTACAtGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG

QKSLKAKMNRRACLGSLhELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNS|t*

LH00995:41:23WJ53LT4:4:2201:37106:12280,LH00995:41:23WJ53LT4:1:1171:2667:9239,LH00995:41:23WJ53LT4:1:1248:34323:20519,LH00995:41:23WJ53LT4:4:1138:1744:27119,LH00995:41:23WJ53LT4:4:2427:15691:9099,LH00995:41:23WJ53LT4:6:2206:24210:23630

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

487

163

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(56)

TCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGA

RHIAQTGLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq*

LH00995:41:23WJ53LT4:1:1174:16120:19062,LH00995:41:23WJ53LT4:1:1204:24946:10584,LH00995:41:23WJ53LT4:1:1218:42259:4895,LH00995:41:23WJ53LT4:1:1366:31685:17913,LH00995:41:23WJ53LT4:1:1366:31693:17899,LH00995:41:23WJ53LT4:1:1487:1615:19636,LH00995:41:23WJ53LT4:1:2237:50009:2401,LH00995:41:23WJ53LT4:1:2237:50017:2415,LH00995:41:23WJ53LT4:1:2463:14535:29487,LH00995:41:23WJ53LT4:2:1206:12803:18361,LH00995:41:23WJ53LT4:2:1315:31426:10150,LH00995:41:23WJ53LT4:2:1315:31443:10150,LH00995:41:23WJ53LT4:2:1357:31960:22537,LH00995:41:23WJ53LT4:3:1145:44589:15293,LH00995:41:23WJ53LT4:3:1360:14704:27511,LH00995:41:23WJ53LT4:3:1413:37251:5554,LH00995:41:23WJ53LT4:3:1431:42607:11803,LH00995:41:23WJ53LT4:3:1432:20416:6661,LH00995:41:23WJ53LT4:3:1432:36005:26600,LH00995:41:23WJ53LT4:3:2175:4220:4335,LH00995:41:23WJ53LT4:3:2356:38869:19090,LH00995:41:23WJ53LT4:3:2451:39250:27007,LH00995:41:23WJ53LT4:3:2476:3556:3298,LH00995:41:23WJ53LT4:4:1124:9519:13821,LH00995:41:23WJ53LT4:4:1194:10773:25578,LH00995:41:23WJ53LT4:4:1446:26815:25003,LH00995:41:23WJ53LT4:4:1487:6639:6927,LH00995:41:23WJ53LT4:4:2102:24218:18403,LH00995:41:23WJ53LT4:4:2254:42235:8749,LH00995:41:23WJ53LT4:4:2291:31888:21122,LH00995:41:23WJ53LT4:4:2425:30626:20113,LH00995:41:23WJ53LT4:5:1297:36693:13751,LH00995:41:23WJ53LT4:5:1438:43529:26825,LH00995:41:23WJ53LT4:5:2269:19251:6633,LH00995:41:23WJ53LT4:5:2398:40601:18613,LH00995:41:23WJ53LT4:6:1286:35601:9309,LH00995:41:23WJ53LT4:6:1398:39565:17661,LH00995:41:23WJ53LT4:6:1440:24768:16862,LH00995:41:23WJ53LT4:6:1475:5385:24513,LH00995:41:23WJ53LT4:6:2257:16023:29151,LH00995:41:23WJ53LT4:6:2457:3395:3242,LH00995:41:23WJ53LT4:7:1131:15085:18866,LH00995:41:23WJ53LT4:1:1408:23110:22845,LH00995:41:23WJ53LT4:1:2127:21120:5218,LH00995:41:23WJ53LT4:1:2268:52202:11327,LH00995:41:23WJ53LT4:1:2340:30739:3774,LH00995:41:23WJ53LT4:1:2414:14988:28926,LH00995:41:23WJ53LT4:1:2474:37793:2233,LH00995:41:23WJ53LT4:2:1454:21338:27735,LH00995:41:23WJ53LT4:2:1454:21346:27749,LH00995:41:23WJ53LT4:2:2208:26759:14928,LH00995:41:23WJ53LT4:2:2327:20821:21738,LH00995:41:23WJ53LT4:3:2130:37300:13681,LH00995:41:23WJ53LT4:3:2252:35811:15643,LH00995:41:23WJ53LT4:3:2357:10441:18894,LH00995:41:23WJ53LT4:3:2387:15327:19510,LH00995:41:23WJ53LT4:4:1116:27438:16722,LH00995:41:23WJ53LT4:4:1316:16695:19608,LH00995:41:23WJ53LT4:4:1316:16703:19622,LH00995:41:23WJ53LT4:4:1398:4916:18403,LH00995:41:23WJ53LT4:4:1453:17229:3859,LH00995:41:23WJ53LT4:4:1453:17237:3844,LH00995:41:23WJ53LT4:4:2113:7173:1715,LH00995:41:23WJ53LT4:4:2148:7351:1575,LH00995:41:23WJ53LT4:4:2337:5263:2555,LH00995:41:23WJ53LT4:5:1210:44581:4573,LH00995:41:23WJ53LT4:5:1283:34824:20295,LH00995:41:23WJ53LT4:5:1416:32697:28464,LH00995:41:23WJ53LT4:5:2140:20982:18151,LH00995:41:23WJ53LT4:5:2470:11703:26488,LH00995:41:23WJ53LT4:6:1154:36572:24358,LH00995:41:23WJ53LT4:6:1170:18482:14606,LH00995:41:23WJ53LT4:6:1351:25472:2527,LH00995:41:23WJ53LT4:6:2468:28174:19426,LH00995:41:23WJ53LT4:2:1307:27996:5302,LH00995:41:23WJ53LT4:2:1307:28004:5288,LH00995:41:23WJ53LT4:2:1307:28013:5302,LH00995:41:23WJ53LT4:2:1443:19211:12532,LH00995:41:23WJ53LT4:2:1443:19219:12518,LH00995:41:23WJ53LT4:2:2262:3985:2191,LH00995:41:23WJ53LT4:6:1385:8855:24106,LH00995:41:23WJ53LT4:6:1385:8863:24120,LH00995:41:23WJ53LT4:6:2481:14340:10879,LH00995:41:23WJ53LT4:6:2481:14357:10879,LH00995:41:23WJ53LT4:6:2481:14365:10893

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

475

163

high

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(34)

GGAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCC

ESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:41:23WJ53LT4:1:1113:31515:24120,LH00995:41:23WJ53LT4:1:2144:27009:15671,LH00995:41:23WJ53LT4:1:2348:19623:28548,LH00995:41:23WJ53LT4:1:2389:11841:21990,LH00995:41:23WJ53LT4:1:2435:19162:6871,LH00995:41:23WJ53LT4:2:1202:7278:16077,LH00995:41:23WJ53LT4:2:1244:21104:8132,LH00995:41:23WJ53LT4:2:2151:33255:6030,LH00995:41:23WJ53LT4:2:2228:15748:24499,LH00995:41:23WJ53LT4:2:2314:10870:23139,LH00995:41:23WJ53LT4:2:2441:21071:17801,LH00995:41:23WJ53LT4:3:1409:4139:5792,LH00995:41:23WJ53LT4:4:1250:19825:24022,LH00995:41:23WJ53LT4:4:1250:19834:24008,LH00995:41:23WJ53LT4:4:1303:16420:19720,LH00995:41:23WJ53LT4:4:1495:28223:25283,LH00995:41:23WJ53LT4:4:2157:21144:9856,LH00995:41:23WJ53LT4:4:2175:25804:20673,LH00995:41:23WJ53LT4:4:2198:4552:10234,LH00995:41:23WJ53LT4:6:2114:7359:3158,LH00995:41:23WJ53LT4:6:2184:9122:21150,LH00995:41:23WJ53LT4:6:2268:2076:16848,LH00995:41:23WJ53LT4:6:2268:2084:16862,LH00995:41:23WJ53LT4:1:1254:23563:17464,LH00995:41:23WJ53LT4:2:1361:48173:12420,LH00995:41:23WJ53LT4:2:1463:11525:16764,LH00995:41:23WJ53LT4:2:2168:41151:2471,LH00995:41:23WJ53LT4:2:2224:41855:9828,LH00995:41:23WJ53LT4:2:2493:45956:11832,LH00995:41:23WJ53LT4:3:1341:23207:10907,LH00995:41:23WJ53LT4:3:2140:30820:11285,LH00995:41:23WJ53LT4:3:2201:12439:27427,LH00995:41:23WJ53LT4:3:2437:16824:6997,LH00995:41:23WJ53LT4:4:2116:15271:3466,LH00995:41:23WJ53LT4:4:2354:37939:23139,LH00995:41:23WJ53LT4:5:1146:36871:20253,LH00995:41:23WJ53LT4:5:1146:36879:20239,LH00995:41:23WJ53LT4:5:1404:51239:23812,LH00995:41:23WJ53LT4:5:2121:41790:12966,LH00995:41:23WJ53LT4:5:2223:20934:19356,LH00995:41:23WJ53LT4:5:2291:19615:22817,LH00995:41:23WJ53LT4:6:2143:16800:4965,LH00995:41:23WJ53LT4:6:2236:18143:25507,LH00995:41:23WJ53LT4:6:2486:39541:13751,LH00995:41:23WJ53LT4:6:2486:39557:13751,LH00995:41:23WJ53LT4:7:1131:29501:25367,LH00995:41:23WJ53LT4:7:1136:10368:22803

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

163

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(7)

TAGGACACA?ACACACAGAGGAAGGACCGTGTGAAGACGAAGGGGGAAGATGCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGG

LH00995:41:23WJ53LT4:2:1304:19178:15110,LH00995:41:23WJ53LT4:2:2353:7367:22004,LH00995:41:23WJ53LT4:2:2358:6987:27399,LH00995:41:23WJ53LT4:3:1111:30537:17240,LH00995:41:23WJ53LT4:3:1111:30545:17226,LH00995:41:23WJ53LT4:4:1239:19817:26895,LH00995:41:23WJ53LT4:4:2182:49241:5106,LH00995:41:23WJ53LT4:5:1215:51393:17605,LH00995:41:23WJ53LT4:5:2284:30690:24569,LH00995:41:23WJ53LT4:6:2105:17245:29221,LH00995:41:23WJ53LT4:6:2496:1898:20211,LH00995:41:23WJ53LT4:3:2418:23862:5960,LH00995:41:23WJ53LT4:6:2278:1922:28884

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

475

272

low

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(3)

GGAAAGAGCCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCAC

GKSHWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldfpgsylknmtpgrpms

LH00995:41:23WJ53LT4:2:1232:34177:19819,LH00995:41:23WJ53LT4:6:1262:10069:22789,LH00995:41:23WJ53LT4:2:1217:39339:27105,LH00995:41:23WJ53LT4:4:1410:18677:11944,LH00995:41:23WJ53LT4:4:2420:11339:17114,LH00995:41:23WJ53LT4:5:1264:31993:10458,LH00995:41:23WJ53LT4:6:1341:2262:6100,LH00995:41:23WJ53LT4:6:1408:47736:2219

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15438200

3'UTR/splice-site

CDS/splice-site

deletion/read-through

272

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)

GGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTC

LH00995:41:23WJ53LT4:3:2412:46393:22257,LH00995:41:23WJ53LT4:6:2396:45786:16077

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

216

high

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(22)

GGCCATTGTCCTGAGGAGTGGATTACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGG___AGATGAGTGAATTTC

LH00995:41:23WJ53LT4:1:1131:10190:25830,LH00995:41:23WJ53LT4:1:1301:38319:17549,LH00995:41:23WJ53LT4:1:2428:16848:3172,LH00995:41:23WJ53LT4:1:2463:42477:8693,LH00995:41:23WJ53LT4:2:1492:26354:5400,LH00995:41:23WJ53LT4:2:2431:13256:6171,LH00995:41:23WJ53LT4:3:2410:47064:15601,LH00995:41:23WJ53LT4:5:1166:18895:4475,LH00995:41:23WJ53LT4:5:1222:11978:23574,LH00995:41:23WJ53LT4:6:2197:42445:29235,LH00995:41:23WJ53LT4:1:1197:21265:9926,LH00995:41:23WJ53LT4:1:1339:8491:19356,LH00995:41:23WJ53LT4:1:1354:47348:21444,LH00995:41:23WJ53LT4:1:2187:16962:15783,LH00995:41:23WJ53LT4:1:2312:30868:26727,LH00995:41:23WJ53LT4:1:2479:14745:29151,LH00995:41:23WJ53LT4:2:1379:44281:28632,LH00995:41:23WJ53LT4:2:2483:43351:7011,LH00995:41:23WJ53LT4:3:1257:38263:26867,LH00995:41:23WJ53LT4:3:1322:37656:2191,LH00995:41:23WJ53LT4:3:2114:45406:26516,LH00995:41:23WJ53LT4:3:2178:18507:14704,LH00995:41:23WJ53LT4:4:1287:24534:22677,LH00995:41:23WJ53LT4:4:1372:32672:11719,LH00995:41:23WJ53LT4:4:2283:35471:11972,LH00995:41:23WJ53LT4:4:2485:1849:23826,LH00995:41:23WJ53LT4:5:1306:43108:26236,LH00995:41:23WJ53LT4:5:1372:12213:3186,LH00995:41:23WJ53LT4:5:2269:36119:18866,LH00995:41:23WJ53LT4:5:2427:32082:15096,LH00995:41:23WJ53LT4:6:1221:18110:6507,LH00995:41:23WJ53LT4:6:2372:52105:19370,LH00995:41:23WJ53LT4:7:1193:40819:13163

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

977

927

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(274),mismappers(32)

GTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCA

SRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEV

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SMPD1

+/+

chr11:6390741

chr11:6390730

CDS

duplication/ITD

1637

1771

medium

in-frame

|Calcineurin-like_phosphoesterase(100%)

ENSG00000166311.10

ENST00000342245.9

downstream

upstream

duplicates(345),mismappers(1)

CAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGACAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGcGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC|GCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCC

QSCPRSGREQGQDGTAGAPGLLWMGLaLALALALALALa|LALALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTC

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SFT2D3

+/+

chr2:127701618

chr2:127701601

CDS

duplication/ITD

450

537

medium

in-frame

|Got1/Sft2-like_family_(100%)

ENSG00000173349.6

ENST00000310981.6

downstream

upstream

duplicates(165),low_entropy(1)

TGTCCAAGATGGCGGACCTCCACCGCCAGCTGCAGGAGTACCTGGCGCAGGGGAAAGCTGGCGGCCCGGCGGCCGCGGAGCCGCTGCTCGCCGCGGAG|CCGCTGCTCGCCGCGGAGAAGGCGGAGGAGCCCGGGGACgGGCCGGCGG

MADLHRQLQEYLAQGKAGGPAAAEPLLAAE|PLLAAEKAEEPGDgPA

LH00995:41:23WJ53LT4:1:1128:37769:9365,LH00995:41:23WJ53LT4:2:1343:11412:3452,LH00995:41:23WJ53LT4:2:2101:46239:5820,LH00995:41:23WJ53LT4:4:1141:27341:4111,LH00995:41:23WJ53LT4:5:1341:24194:4741,LH00995:41:23WJ53LT4:5:1348:24582:29095,LH00995:41:23WJ53LT4:6:2277:44184:13527,LH00995:41:23WJ53LT4:1:1128:37769:9365,LH00995:41:23WJ53LT4:1:1242:9535:23434,LH00995:41:23WJ53LT4:1:1242:9535:23434,LH00995:41:23WJ53LT4:1:1281:3751:4167,LH00995:41:23WJ53LT4:1:1281:3751:4167,LH00995:41:23WJ53LT4:1:1294:35771:25718,LH00995:41:23WJ53LT4:1:1294:35771:25718,LH00995:41:23WJ53LT4:1:1353:4325:22117,LH00995:41:23WJ53LT4:1:1353:4325:22117,LH00995:41:23WJ53LT4:1:1357:42971:27035,LH00995:41:23WJ53LT4:1:1357:42971:27035,LH00995:41:23WJ53LT4:1:2114:24000:23546,LH00995:41:23WJ53LT4:1:2114:24000:23546,LH00995:41:23WJ53LT4:1:2162:30617:9982,LH00995:41:23WJ53LT4:1:2162:30617:9982,LH00995:41:23WJ53LT4:1:2220:8621:11789,LH00995:41:23WJ53LT4:1:2220:8621:11789,LH00995:41:23WJ53LT4:1:2249:40164:10879,LH00995:41:23WJ53LT4:1:2249:40164:10879,LH00995:41:23WJ53LT4:1:2250:11800:28394,LH00995:41:23WJ53LT4:1:2250:11800:28394,LH00995:41:23WJ53LT4:1:2374:32640:9169,LH00995:41:23WJ53LT4:1:2374:32640:9169,LH00995:41:23WJ53LT4:1:2483:15562:24120,LH00995:41:23WJ53LT4:1:2483:15562:24120,LH00995:41:23WJ53LT4:1:2491:32025:29291,LH00995:41:23WJ53LT4:1:2491:32025:29291,LH00995:41:23WJ53LT4:2:1151:48691:29123,LH00995:41:23WJ53LT4:2:1151:48691:29123,LH00995:41:23WJ53LT4:2:1177:39379:1785,LH00995:41:23WJ53LT4:2:1177:39379:1785,LH00995:41:23WJ53LT4:2:1179:30504:5918,LH00995:41:23WJ53LT4:2:1179:30504:5918,LH00995:41:23WJ53LT4:2:1180:5959:3957,LH00995:41:23WJ53LT4:2:1180:5959:3957,LH00995:41:23WJ53LT4:2:1198:34104:26194,LH00995:41:23WJ53LT4:2:1198:34104:26194,LH00995:41:23WJ53LT4:2:1278:24048:23322,LH00995:41:23WJ53LT4:2:1278:24048:23322,LH00995:41:23WJ53LT4:2:1321:51797:23518,LH00995:41:23WJ53LT4:2:1321:51797:23518,LH00995:41:23WJ53LT4:2:1327:35067:14634,LH00995:41:23WJ53LT4:2:1327:35067:14634,LH00995:41:23WJ53LT4:2:1343:11412:3452,LH00995:41:23WJ53LT4:2:2101:46239:5820,LH00995:41:23WJ53LT4:2:2117:41482:14900,LH00995:41:23WJ53LT4:2:2117:41482:14900,LH00995:41:23WJ53LT4:2:2118:16104:27385,LH00995:41:23WJ53LT4:2:2118:16104:27385,LH00995:41:23WJ53LT4:2:2130:49451:14522,LH00995:41:23WJ53LT4:2:2130:49451:14522,LH00995:41:23WJ53LT4:2:2163:43998:24527,LH00995:41:23WJ53LT4:2:2163:43998:24527,LH00995:41:23WJ53LT4:2:2172:27851:27918,LH00995:41:23WJ53LT4:2:2172:27851:27918,LH00995:41:23WJ53LT4:2:2263:9195:22761,LH00995:41:23WJ53LT4:2:2263:9195:22761,LH00995:41:23WJ53LT4:2:2439:33619:29221,LH00995:41:23WJ53LT4:2:2439:33619:29221,LH00995:41:23WJ53LT4:2:2459:39080:10598,LH00995:41:23WJ53LT4:2:2459:39080:10598,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1171:24323:4293,LH00995:41:23WJ53LT4:3:1277:16614:6941,LH00995:41:23WJ53LT4:3:1277:16614:6941,LH00995:41:23WJ53LT4:3:1387:1356:6773,LH00995:41:23WJ53LT4:3:1387:1356:6773,LH00995:41:23WJ53LT4:3:1490:11735:21332,LH00995:41:23WJ53LT4:3:1490:11735:21332,LH00995:41:23WJ53LT4:3:2145:27988:1084,LH00995:41:23WJ53LT4:3:2162:3848:15629,LH00995:41:23WJ53LT4:3:2162:3848:15629,LH00995:41:23WJ53LT4:3:2257:26233:9449,LH00995:41:23WJ53LT4:3:2257:26233:9449,LH00995:41:23WJ53LT4:3:2311:45616:22593,LH00995:41:23WJ53LT4:3:2311:45616:22593,LH00995:41:23WJ53LT4:3:2315:1599:7334,LH00995:41:23WJ53LT4:3:2315:1599:7334,LH00995:41:23WJ53LT4:3:2383:26006:25395,LH00995:41:23WJ53LT4:3:2383:26006:25395,LH00995:41:23WJ53LT4:3:2386:7011:29039,LH00995:41:23WJ53LT4:3:2386:7011:29039,LH00995:41:23WJ53LT4:3:2388:14235:15573,LH00995:41:23WJ53LT4:3:2388:14235:15573,LH00995:41:23WJ53LT4:3:2398:45074:13079,LH00995:41:23WJ53LT4:3:2398:45074:13079,LH00995:41:23WJ53LT4:3:2448:4139:21402,LH00995:41:23WJ53LT4:3:2448:4139:21402,LH00995:41:23WJ53LT4:3:2469:37373:8286,LH00995:41:23WJ53LT4:3:2469:37373:8286,LH00995:41:23WJ53LT4:4:1107:47930:28002,LH00995:41:23WJ53LT4:4:1107:47930:28002,LH00995:41:23WJ53LT4:4:1141:27341:4111,LH00995:41:23WJ53LT4:4:1144:39808:22565,LH00995:41:23WJ53LT4:4:1144:39808:22565,LH00995:41:23WJ53LT4:4:1153:37971:23952,LH00995:41:23WJ53LT4:4:1153:37971:23952,LH00995:41:23WJ53LT4:4:1189:39889:21304,LH00995:41:23WJ53LT4:4:1189:39889:21304,LH00995:41:23WJ53LT4:4:1219:18458:23167,LH00995:41:23WJ53LT4:4:1219:18458:23167,LH00995:41:23WJ53LT4:4:1236:10854:14732,LH00995:41:23WJ53LT4:4:1236:10854:14732,LH00995:41:23WJ53LT4:4:1250:20788:11229,LH00995:41:23WJ53LT4:4:1250:20788:11229,LH00995:41:23WJ53LT4:4:1271:17083:8455,LH00995:41:23WJ53LT4:4:1271:17083:8455,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1304:49030:12812,LH00995:41:23WJ53LT4:4:1410:33522:29361,LH00995:41:23WJ53LT4:4:1410:33522:29361,LH00995:41:23WJ53LT4:4:2108:15166:13345,LH00995:41:23WJ53LT4:4:2108:15166:13345,LH00995:41:23WJ53LT4:4:2154:36313:10010,LH00995:41:23WJ53LT4:4:2154:36313:10010,LH00995:41:23WJ53LT4:4:2185:26807:1196,LH00995:41:23WJ53LT4:4:2185:26807:1196,LH00995:41:23WJ53LT4:4:2382:25990:3564,LH00995:41:23WJ53LT4:4:2382:25990:3564,LH00995:41:23WJ53LT4:4:2424:15206:28969,LH00995:41:23WJ53LT4:4:2424:15206:28969,LH00995:41:23WJ53LT4:4:2440:50616:22733,LH00995:41:23WJ53LT4:4:2440:50616:22733,LH00995:41:23WJ53LT4:4:2497:14421:7460,LH00995:41:23WJ53LT4:4:2497:14421:7460,LH00995:41:23WJ53LT4:5:1150:14001:27497,LH00995:41:23WJ53LT4:5:1150:14001:27497,LH00995:41:23WJ53LT4:5:1209:42534:1140,LH00995:41:23WJ53LT4:5:1210:18774:6423,LH00995:41:23WJ53LT4:5:1210:18774:6423,LH00995:41:23WJ53LT4:5:1217:22196:26334,LH00995:41:23WJ53LT4:5:1217:22196:26334,LH00995:41:23WJ53LT4:5:1330:12973:4979,LH00995:41:23WJ53LT4:5:1330:12973:4979,LH00995:41:23WJ53LT4:5:1341:24194:4741,LH00995:41:23WJ53LT4:5:1348:24582:29095,LH00995:41:23WJ53LT4:5:1447:1299:13821,LH00995:41:23WJ53LT4:5:1447:1299:13821,LH00995:41:23WJ53LT4:5:1462:21686:5582,LH00995:41:23WJ53LT4:5:1462:21686:5582,LH00995:41:23WJ53LT4:5:2190:13952:21556,LH00995:41:23WJ53LT4:5:2190:13952:21556,LH00995:41:23WJ53LT4:5:2218:3920:24947,LH00995:41:23WJ53LT4:5:2218:3920:24947,LH00995:41:23WJ53LT4:5:2290:41434:14620,LH00995:41:23WJ53LT4:5:2290:41434:14620,LH00995:41:23WJ53LT4:5:2459:6307:3999,LH00995:41:23WJ53LT4:5:2459:6307:3999,LH00995:41:23WJ53LT4:6:1156:17269:10318,LH00995:41:23WJ53LT4:6:1156:17269:10318,LH00995:41:23WJ53LT4:6:1208:13701:13499,LH00995:41:23WJ53LT4:6:1208:13701:13499,LH00995:41:23WJ53LT4:6:1210:18377:11145,LH00995:41:23WJ53LT4:6:1210:18377:11145,LH00995:41:23WJ53LT4:6:1302:21379:6563,LH00995:41:23WJ53LT4:6:1302:21379:6563,LH00995:41:23WJ53LT4:6:1310:1178:21262,LH00995:41:23WJ53LT4:6:1310:1178:21262,LH00995:41:23WJ53LT4:6:2277:44184:13527,LH00995:41:23WJ53LT4:6:2307:11048:16273,LH00995:41:23WJ53LT4:6:2307:11048:16273,LH00995:41:23WJ53LT4:6:2350:48011:27497,LH00995:41:23WJ53LT4:6:2350:48011:27497,LH00995:41:23WJ53LT4:6:2371:15546:9239,LH00995:41:23WJ53LT4:6:2371:15546:9239,LH00995:41:23WJ53LT4:6:2396:35601:8889,LH00995:41:23WJ53LT4:6:2396:35601:8889,LH00995:41:23WJ53LT4:7:1103:48958:1757,LH00995:41:23WJ53LT4:7:1103:48958:1757,LH00995:41:23WJ53LT4:7:1151:40536:21164,LH00995:41:23WJ53LT4:7:1151:40536:21164

SLC9A3

-/-

chr5:473145

chr5:473162

CDS

duplication/ITD

285

207

medium

in-frame

Sodium/hydrogen_exchanger_family(100%)|

ENSG00000066230.12

ENST00000644203.1

upstream

downstream

duplicates(29),low_entropy(2)

GAGTGCCGCGCCTGCGCCCGCAGAGCCGCCCGAGGGCGAGCCGGGGGCGGGGCCTGCGCCGGGGGCGGGGCC|TGCGCCGGGGGCGGGGCCGGAGCGCCGgGGGCTGCCGAGTGCGCA

SAAPAPAEPPEGEPGAGPAPGAGp|APGAGPERRGLPSA

LH00995:41:23WJ53LT4:1:1151:51999:10781,LH00995:41:23WJ53LT4:1:1166:41070:27777,LH00995:41:23WJ53LT4:1:2128:26168:3620,LH00995:41:23WJ53LT4:1:2163:40770:4027,LH00995:41:23WJ53LT4:1:2321:31960:2864,LH00995:41:23WJ53LT4:1:2357:48658:13541,LH00995:41:23WJ53LT4:2:2376:25642:3802,LH00995:41:23WJ53LT4:2:2469:19130:8188,LH00995:41:23WJ53LT4:3:1183:10312:9421,LH00995:41:23WJ53LT4:3:1187:48529:24919,LH00995:41:23WJ53LT4:3:1267:8750:7894,LH00995:41:23WJ53LT4:3:1342:49047:11551,LH00995:41:23WJ53LT4:3:2346:4018:4069,LH00995:41:23WJ53LT4:3:2351:10546:27511,LH00995:41:23WJ53LT4:4:1298:20780:18978,LH00995:41:23WJ53LT4:5:2389:46911:4405,LH00995:41:23WJ53LT4:6:1235:43464:6983,LH00995:41:23WJ53LT4:6:1235:43481:6983,LH00995:41:23WJ53LT4:6:2363:23773:29655,LH00995:41:23WJ53LT4:7:1153:13159:20267,LH00995:41:23WJ53LT4:6:2297:26621:20211,LH00995:41:23WJ53LT4:4:1270:22180:6717,LH00995:41:23WJ53LT4:4:2456:49435:6787,LH00995:41:23WJ53LT4:6:1397:49483:25648,LH00995:41:23WJ53LT4:1:1151:51999:10781,LH00995:41:23WJ53LT4:1:1166:41070:27777,LH00995:41:23WJ53LT4:1:1277:45212:12700,LH00995:41:23WJ53LT4:1:1277:45212:12700,LH00995:41:23WJ53LT4:1:1277:45220:12714,LH00995:41:23WJ53LT4:1:1277:45220:12714,LH00995:41:23WJ53LT4:1:2128:26168:3620,LH00995:41:23WJ53LT4:1:2163:40770:4027,LH00995:41:23WJ53LT4:1:2321:31960:2864,LH00995:41:23WJ53LT4:1:2357:48658:13541,LH00995:41:23WJ53LT4:2:2192:16476:23910,LH00995:41:23WJ53LT4:2:2192:16476:23910,LH00995:41:23WJ53LT4:2:2376:25642:3802,LH00995:41:23WJ53LT4:2:2469:19130:8188,LH00995:41:23WJ53LT4:3:1183:10312:9421,LH00995:41:23WJ53LT4:3:1187:48529:24919,LH00995:41:23WJ53LT4:3:1267:8750:7894,LH00995:41:23WJ53LT4:3:1342:49047:11551,LH00995:41:23WJ53LT4:3:2346:4018:4069,LH00995:41:23WJ53LT4:3:2351:10546:27511,LH00995:41:23WJ53LT4:4:1298:20780:18978,LH00995:41:23WJ53LT4:5:2389:46911:4405,LH00995:41:23WJ53LT4:6:1235:43464:6983,LH00995:41:23WJ53LT4:6:1235:43481:6983,LH00995:41:23WJ53LT4:6:2363:23773:29655,LH00995:41:23WJ53LT4:6:2413:35868:15208,LH00995:41:23WJ53LT4:6:2413:35868:15208,LH00995:41:23WJ53LT4:7:1153:13159:20267,LH00995:41:23WJ53LT4:6:2297:26621:20211,LH00995:41:23WJ53LT4:1:1192:27131:28016,LH00995:41:23WJ53LT4:1:1232:36539:15951,LH00995:41:23WJ53LT4:1:1482:32583:19748,LH00995:41:23WJ53LT4:1:2323:33077:23378,LH00995:41:23WJ53LT4:2:2197:26192:7922,LH00995:41:23WJ53LT4:3:2171:17706:23097,LH00995:41:23WJ53LT4:3:2324:21508:29711,LH00995:41:23WJ53LT4:4:1253:48262:22215,LH00995:41:23WJ53LT4:4:2233:47331:27946,LH00995:41:23WJ53LT4:5:2154:24469:24723,LH00995:41:23WJ53LT4:6:2237:17366:15531,LH00995:41:23WJ53LT4:6:2297:26621:20211,LH00995:41:23WJ53LT4:6:2377:7278:18459

ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

448

513

medium

out-of-frame

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

ENSG00000204514.10

ENST00000435989.7

upstream

downstream

duplicates(223),low_entropy(1)

CCAGAGACTGCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|t|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATt

QRLLTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|*

LH00995:41:23WJ53LT4:1:1272:22705:16624,LH00995:41:23WJ53LT4:1:2190:8702:28660,LH00995:41:23WJ53LT4:1:2190:8702:28660,LH00995:41:23WJ53LT4:1:2190:8702:28660,LH00995:41:23WJ53LT4:1:2255:31969:13079,LH00995:41:23WJ53LT4:1:2283:10433:28576,LH00995:41:23WJ53LT4:1:2283:10441:28562,LH00995:41:23WJ53LT4:2:1111:33805:9870,LH00995:41:23WJ53LT4:2:1275:47849:8132,LH00995:41:23WJ53LT4:2:1324:46846:10234,LH00995:41:23WJ53LT4:2:2171:2804:4097,LH00995:41:23WJ53LT4:2:2171:2804:4097,LH00995:41:23WJ53LT4:2:2171:2804:4097,LH00995:41:23WJ53LT4:2:2218:21799:2107,LH00995:41:23WJ53LT4:3:1184:10182:18782,LH00995:41:23WJ53LT4:3:1184:10190:18768,LH00995:41:23WJ53LT4:3:1224:28061:12756,LH00995:41:23WJ53LT4:3:1224:28069:12742,LH00995:41:23WJ53LT4:3:1224:28077:12756,LH00995:41:23WJ53LT4:3:1329:36628:19356,LH00995:41:23WJ53LT4:3:2457:39314:26614,LH00995:41:23WJ53LT4:4:1144:11800:27189,LH00995:41:23WJ53LT4:4:1438:22867:18529,LH00995:41:23WJ53LT4:4:1479:28676:25872,LH00995:41:23WJ53LT4:4:2197:51118:1182,LH00995:41:23WJ53LT4:4:2197:51118:1182,LH00995:41:23WJ53LT4:4:2197:51118:1182,LH00995:41:23WJ53LT4:4:2226:38352:17520,LH00995:41:23WJ53LT4:4:2226:38368:17520,LH00995:41:23WJ53LT4:4:2318:38756:19903,LH00995:41:23WJ53LT4:5:1166:41029:9435,LH00995:41:23WJ53LT4:5:1330:48715:22243,LH00995:41:23WJ53LT4:5:1330:48723:22229,LH00995:41:23WJ53LT4:5:1330:48731:22243,LH00995:41:23WJ53LT4:6:1120:18879:12882,LH00995:41:23WJ53LT4:6:1162:17099:10248,LH00995:41:23WJ53LT4:6:2328:20020:26152,LH00995:41:23WJ53LT4:6:2328:20036:26152,LH00995:41:23WJ53LT4:6:2364:31920:17366,LH00995:41:23WJ53LT4:7:1192:43618:12630,LH00995:41:23WJ53LT4:1:2190:8702:28660,LH00995:41:23WJ53LT4:1:1138:25221:18880,LH00995:41:23WJ53LT4:1:1272:22705:16624,LH00995:41:23WJ53LT4:1:1319:11234:3228,LH00995:41:23WJ53LT4:1:1344:39120:11846,LH00995:41:23WJ53LT4:1:1442:8281:18627,LH00995:41:23WJ53LT4:1:1442:8281:18627,LH00995:41:23WJ53LT4:1:2160:36305:14536,LH00995:41:23WJ53LT4:1:2160:36305:14536,LH00995:41:23WJ53LT4:1:2190:8702:28660,LH00995:41:23WJ53LT4:1:2283:10433:28576,LH00995:41:23WJ53LT4:1:2283:10441:28562,LH00995:41:23WJ53LT4:1:2326:15303:14676,LH00995:41:23WJ53LT4:1:2326:15303:14676,LH00995:41:23WJ53LT4:1:2479:44176:21332,LH00995:41:23WJ53LT4:1:2479:44176:21332,LH00995:41:23WJ53LT4:1:2487:30221:17058,LH00995:41:23WJ53LT4:1:2487:30221:17058,LH00995:41:23WJ53LT4:2:1111:33805:9870,LH00995:41:23WJ53LT4:2:1215:50980:15685,LH00995:41:23WJ53LT4:2:1275:47849:8132,LH00995:41:23WJ53LT4:2:1449:21136:20715,LH00995:41:23WJ53LT4:2:1449:21136:20715,LH00995:41:23WJ53LT4:2:1456:32292:19889,LH00995:41:23WJ53LT4:2:1456:32292:19889,LH00995:41:23WJ53LT4:2:2110:9325:6143,LH00995:41:23WJ53LT4:2:2110:9325:6143,LH00995:41:23WJ53LT4:2:2110:9325:6143,LH00995:41:23WJ53LT4:2:2171:2804:4097,LH00995:41:23WJ53LT4:2:2218:21799:2107,LH00995:41:23WJ53LT4:2:2268:13434:13177,LH00995:41:23WJ53LT4:2:2268:13434:13177,LH00995:41:23WJ53LT4:2:2384:25852:10893,LH00995:41:23WJ53LT4:2:2384:25852:10893,LH00995:41:23WJ53LT4:2:2384:25852:10893,LH00995:41:23WJ53LT4:2:2385:24501:17801,LH00995:41:23WJ53LT4:2:2385:24501:17801,LH00995:41:23WJ53LT4:2:2389:9988:3592,LH00995:41:23WJ53LT4:2:2389:9988:3592,LH00995:41:23WJ53LT4:2:2406:34298:7726,LH00995:41:23WJ53LT4:2:2406:34298:7726,LH00995:41:23WJ53LT4:3:1184:10182:18782,LH00995:41:23WJ53LT4:3:1184:10190:18768,LH00995:41:23WJ53LT4:3:1198:6008:28086,LH00995:41:23WJ53LT4:3:1198:6008:28086,LH00995:41:23WJ53LT4:3:1211:46053:20855,LH00995:41:23WJ53LT4:3:1211:46053:20855,LH00995:41:23WJ53LT4:3:1224:28061:12756,LH00995:41:23WJ53LT4:3:1224:28069:12742,LH00995:41:23WJ53LT4:3:1224:28077:12756,LH00995:41:23WJ53LT4:3:1329:36628:19356,LH00995:41:23WJ53LT4:3:1332:12973:2878,LH00995:41:23WJ53LT4:3:1373:17140:22593,LH00995:41:23WJ53LT4:3:1373:17140:22593,LH00995:41:23WJ53LT4:3:1373:17140:22593,LH00995:41:23WJ53LT4:3:1487:8742:15166,LH00995:41:23WJ53LT4:3:1487:8742:15166,LH00995:41:23WJ53LT4:3:1497:2141:13541,LH00995:41:23WJ53LT4:3:1497:2141:13541,LH00995:41:23WJ53LT4:3:2130:36159:13583,LH00995:41:23WJ53LT4:3:2130:36159:13583,LH00995:41:23WJ53LT4:3:2401:24890:26292,LH00995:41:23WJ53LT4:3:2401:24890:26292,LH00995:41:23WJ53LT4:3:2405:13515:10991,LH00995:41:23WJ53LT4:3:2405:13515:10991,LH00995:41:23WJ53LT4:3:2444:45746:24975,LH00995:41:23WJ53LT4:3:2444:45746:24975,LH00995:41:23WJ53LT4:3:2444:45746:24975,LH00995:41:23WJ53LT4:3:2444:45754:24989,LH00995:41:23WJ53LT4:3:2444:45754:24989,LH00995:41:23WJ53LT4:3:2444:45754:24989,LH00995:41:23WJ53LT4:3:2457:39314:26614,LH00995:41:23WJ53LT4:3:2470:4932:16610,LH00995:41:23WJ53LT4:4:1121:18159:1182,LH00995:41:23WJ53LT4:4:1121:18159:1182,LH00995:41:23WJ53LT4:4:1121:18159:1182,LH00995:41:23WJ53LT4:4:1143:2602:24681,LH00995:41:23WJ53LT4:4:1143:2602:24681,LH00995:41:23WJ53LT4:4:1278:37850:20883,LH00995:41:23WJ53LT4:4:2197:51118:1182,LH00995:41:23WJ53LT4:4:2226:38352:17520,LH00995:41:23WJ53LT4:4:2226:38368:17520,LH00995:41:23WJ53LT4:4:2290:32438:15965,LH00995:41:23WJ53LT4:4:2290:32438:15965,LH00995:41:23WJ53LT4:4:2290:32438:15965,LH00995:41:23WJ53LT4:4:2477:28288:21584,LH00995:41:2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0036:26152,LH00995:41:23WJ53LT4:7:1184:21880:1687,LH00995:41:23WJ53LT4:7:1184:21880:1687,LH00995:41:23WJ53LT4:7:1193:46126:10360

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

5390

3587

medium

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

duplicates(71),low_entropy(2)

AGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCA

IFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:41:23WJ53LT4:1:1119:3370:27021,LH00995:41:23WJ53LT4:1:1227:26233:20127,LH00995:41:23WJ53LT4:1:1246:36936:28856,LH00995:41:23WJ53LT4:1:1339:36329:17240,LH00995:41:23WJ53LT4:1:1359:33999:15475,LH00995:41:23WJ53LT4:1:1408:50341:2163,LH00995:41:23WJ53LT4:1:1471:25586:8525,LH00995:41:23WJ53LT4:1:2105:27147:11537,LH00995:41:23WJ53LT4:1:2246:25861:14298,LH00995:41:23WJ53LT4:2:1175:1825:8707,LH00995:41:23WJ53LT4:2:1179:12431:11299,LH00995:41:23WJ53LT4:2:1179:12439:11313,LH00995:41:23WJ53LT4:2:1179:12447:11299,LH00995:41:23WJ53LT4:2:1472:40835:25746,LH00995:41:23WJ53LT4:2:2291:29016:4657,LH00995:41:23WJ53LT4:2:2301:4738:9940,LH00995:41:23WJ53LT4:2:2359:48488:28520,LH00995:41:23WJ53LT4:2:2473:18523:25297,LH00995:41:23WJ53LT4:2:2491:44492:11677,LH00995:41:23WJ53LT4:3:1227:45705:4783,LH00995:41:23WJ53LT4:3:1309:50131:24246,LH00995:41:23WJ53LT4:3:1388:15352:6128,LH00995:41:23WJ53LT4:3:1415:6315:28814,LH00995:41:23WJ53LT4:3:2204:50058:5568,LH00995:41:23WJ53LT4:3:2210:16792:2401,LH00995:41:23WJ53LT4:3:2236:42186:13373,LH00995:41:23WJ53LT4:3:2401:43432:19202,LH00995:41:23WJ53LT4:3:2439:43812:21486,LH00995:41:23WJ53LT4:3:2441:13135:9239,LH00995:41:23WJ53LT4:4:1231:16047:16638,LH00995:41:23WJ53LT4:4:1252:51643:18039,LH00995:41:23WJ53LT4:4:1252:51651:18025,LH00995:41:23WJ53LT4:4:1255:23992:16890,LH00995:41:23WJ53LT4:4:1337:1566:9660,LH00995:41:23WJ53LT4:4:1431:45074:13891,LH00995:41:23WJ53LT4:4:1441:46215:10150,LH00995:41:23WJ53LT4:4:2113:15708:26811,LH00995:41:23WJ53LT4:4:2118:29930:20141,LH00995:41:23WJ53LT4:4:2289:30480:28997,LH00995:41:23WJ53LT4:4:2324:49378:5876,LH00995:41:23WJ53LT4:4:2422:9551:8749,LH00995:41:23WJ53LT4:4:2422:9559:8763,LH00995:41:23WJ53LT4:4:2473:32591:14746,LH00995:41:23WJ53LT4:5:1190:1680:9912,LH00995:41:23WJ53LT4:5:1487:45171:19356,LH00995:41:23WJ53LT4:5:2422:32049:24933,LH00995:41:23WJ53LT4:5:2424:7432:6143,LH00995:41:23WJ53LT4:6:1136:33926:19804,LH00995:41:23WJ53LT4:6:1233:14373:12952,LH00995:41:23WJ53LT4:6:1310:27835:21528,LH00995:41:23WJ53LT4:6:1381:14365:29109,LH00995:41:23WJ53LT4:6:1438:46717:26797,LH00995:41:23WJ53LT4:6:1438:46725:26783,LH00995:41:23WJ53LT4:6:2209:50017:3760,LH00995:41:23WJ53LT4:6:2214:39314:4447,LH00995:41:23WJ53LT4:6:2330:40584:17408,LH00995:41:23WJ53LT4:6:2335:7124:9197,LH00995:41:23WJ53LT4:6:2377:35989:27918,LH00995:41:23WJ53LT4:1:1147:14082:7404,LH00995:41:23WJ53LT4:1:1147:14082:7432,LH00995:41:23WJ53LT4:1:1147:14090:7418,LH00995:41:23WJ53LT4:1:1196:3249:25578,LH00995:41:23WJ53LT4:1:1292:46919:21262,LH00995:41:23WJ53LT4:1:1432:35455:14718,LH00995:41:23WJ53LT4:1:1432:35471:14718,LH00995:41:23WJ53LT4:1:2277:32001:23111,LH00995:41:23WJ53LT4:1:2306:27519:24597,LH00995:41:23WJ53LT4:2:1227:3759:14746,LH00995:41:23WJ53LT4:2:1265:43125:19426,LH00995:41:23WJ53LT4:2:2225:15619:7600,LH00995:41:23WJ53LT4:3:2201:21427:17745,LH00995:41:23WJ53LT4:4:1292:25909:13821,LH00995:41:23WJ53LT4:4:1321:37648:10248,LH00995:41:23WJ53LT4:4:1337:32494:29431,LH00995:41:23WJ53LT4:4:2152:16015:14620,LH00995:41:23WJ53LT4:4:2152:16023:14606,LH00995:41:23WJ53LT4:4:2157:15069:20827,LH00995:41:23WJ53LT4:5:1341:3920:20127,LH00995:41:23WJ53LT4:5:1379:37656:9421,LH00995:41:23WJ53LT4:5:1413:6259:20561,LH00995:41:23WJ53LT4:5:2159:19526:21962,LH00995:41:23WJ53LT4:5:2240:11994:14774,LH00995:41:23WJ53LT4:5:2456:38732:4279,LH00995:41:23WJ53LT4:6:1240:44686:9183,LH00995:41:23WJ53LT4:6:1240:44694:9169,LH00995:41:23WJ53LT4:6:1244:6566:22887,LH00995:41:23WJ53LT4:6:1248:36135:10514,LH00995:41:23WJ53LT4:6:1248:36151:10514,LH00995:41:23WJ53LT4:6:1308:15238:17058,LH00995:41:23WJ53LT4:6:2350:25683:29291

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

5390

1978

low

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000408993.6

downstream

upstream

duplicates(17)

CCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGGGCACTGGTCCAAAGAGTGTCCGATAGATCGTTCAGGCCGCGTGGCAGACTTGACCGAGCAATATAATGAGCAATACGGAGCAGTGCGTACGCCTTACACCAT

PLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKEGHWSKECPIDRSGRVADLTEQYNEQYGAVRTPYT

LH00995:41:23WJ53LT4:1:1407:8645:29011,LH00995:41:23WJ53LT4:1:2407:16072:16596,LH00995:41:23WJ53LT4:3:1184:11145:23952,LH00995:41:23WJ53LT4:4:1164:10255:23756,LH00995:41:23WJ53LT4:4:1164:10271:23756,LH00995:41:23WJ53LT4:5:1449:36920:9968,LH00995:41:23WJ53LT4:6:1127:16064:1729,LH00995:41:23WJ53LT4:6:1176:11064:29249,LH00995:41:23WJ53LT4:6:1176:11072:29235,LH00995:41:23WJ53LT4:6:2240:7707:26741,LH00995:41:23WJ53LT4:1:1141:27551:3102,LH00995:41:23WJ53LT4:1:2190:42526:10066,LH00995:41:23WJ53LT4:1:2247:19081:13793,LH00995:41:23WJ53LT4:1:2309:48140:29123,LH00995:41:23WJ53LT4:2:2162:1615:20701,LH00995:41:23WJ53LT4:2:2162:1631:20701,LH00995:41:23WJ53LT4:3:2185:13677:10879,LH00995:41:23WJ53LT4:4:1242:16945:20295,LH00995:41:23WJ53LT4:5:1103:49459:12966,LH00995:41:23WJ53LT4:5:1144:47922:22355,LH00995:41:23WJ53LT4:5:1317:43837:28394,LH00995:41:23WJ53LT4:6:1104:35326:24078,LH00995:41:23WJ53LT4:6:2174:17625:25564

RBM14

RBM4

+/+

chr11:66617057

chr11:66665856

CDS/splice-site

deletion/read-through

5390

720

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

GGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCT

KIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gKITPVTEGYCC

LH00995:41:23WJ53LT4:3:2390:22180:19692

RBM14

RBM4

+/+

chr11:66617055

chr11:66639699

CDS/splice-site

5'UTR/splice-site

deletion/read-through

5390

3450

low

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000409406.1

downstream

upstream

duplicates(2),read_through(1)

AGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAA|GGCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCG

MSRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVk|alvrMVKLFIGNLPREATEQEIRSLF

LH00995:41:23WJ53LT4:3:1203:43723:9197,LH00995:41:23WJ53LT4:4:1114:37923:28128,LH00995:41:23WJ53LT4:6:1115:6113:7390

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

5390

3450

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(437),read_through(163)

AAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGA

KIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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23WJ53LT4:5:1111:14842:26068,LH00995:41:23WJ53LT4:5:1115:9543:21934,LH00995:41:23WJ53LT4:5:1118:43958:6465,LH00995:41:23WJ53LT4:5:1118:43966:6451,LH00995:41:23WJ53LT4:5:1166:2489:1504,LH00995:41:23WJ53LT4:5:1192:12917:20323,LH00995:41:23WJ53LT4:5:1232:20465:5792,LH00995:41:23WJ53LT4:5:1244:34250:28352,LH00995:41:23WJ53LT4:5:1244:34258:28366,LH00995:41:23WJ53LT4:5:1254:46450:15853,LH00995:41:23WJ53LT4:5:1254:46466:15853,LH00995:41:23WJ53LT4:5:1274:14664:11579,LH00995:41:23WJ53LT4:5:1304:41774:4195,LH00995:41:23WJ53LT4:5:1315:22471:17619,LH00995:41:23WJ53LT4:5:1324:32939:23027,LH00995:41:23WJ53LT4:5:1327:51660:18908,LH00995:41:23WJ53LT4:5:1341:45624:24821,LH00995:41:23WJ53LT4:5:1352:38352:8805,LH00995:41:23WJ53LT4:5:1362:16638:4377,LH00995:41:23WJ53LT4:5:1363:23684:9155,LH00995:41:23WJ53LT4:5:1376:47162:21906,LH00995:41:23WJ53LT4:5:1391:7585:12462,LH00995:41:23WJ53LT4:5:1392:12132:9884,LH00995:41:23WJ53LT4:5:1406:19162:11075,LH00995:41:23WJ53LT4:5:1423:2375:4839,LH00995:41:23WJ53LT4:5:1432:43432:1575,LH00995:41:23WJ53LT4:5:1432:49532:19875,LH00995:41:23WJ53LT4:5:1443:14810:20295,LH00995:41:23WJ53LT4:5:1454:5458:3340,LH00995:41:23WJ53LT4:5:1462:49597:8581,LH00995:41:23WJ53LT4:5:1472:26030:29725,LH00995:41:23WJ53LT4:5:1480:20909:2920,LH00995:41:23WJ53LT4:5:1498:47534:3718,LH00995:41:23WJ53LT4:5:2107:43667:29193,LH00995:41:23WJ53LT4:5:2108:29444:25437,LH00995:41:23WJ53LT4:5:2110:28134:6857,LH00995:41:23WJ53LT4:5:2145:25796:7348,LH00995:41:23WJ53LT4:5:2157:32705:28282,LH00995:41:23WJ53LT4:5:2183:49831:8314,LH00995:41:23WJ53LT4:5:2192:25505:19258,LH00995:41:23WJ53LT4:5:2198:28846:14368,LH00995:41:23WJ53LT4:5:2245:8985:14073,LH00995:41:23WJ53LT4:5:2248:17981:1406,LH00995:41:23WJ53LT4:5:2257:19656:26558,LH00995:41:23WJ53LT4:5:2257:19672:26558,LH00995:41:23WJ53LT4:5:2263:39945:5624,LH00995:41:23WJ53LT4:5:2288:17374:4139,LH00995:41:23WJ53LT4:5:2303:49119:5736,LH00995:41:23WJ53LT4:5:2305:10312:28282,LH00995:41:23WJ53LT4:5:2322:47323:3438,LH00995:41:23WJ53LT4:5:2333:46595:5148,LH00995:41:23WJ53LT4:5:2348:15044:20897,LH00995:41:23WJ53LT4:5:2376:40859:18754,LH00995:41:23WJ53LT4:5:2386:6501:18740,LH00995:41:23WJ53LT4:5:2391:5870:16414,LH00995:41:23WJ53LT4:5:2431:17415:16063,LH00995:41:23WJ53LT4:5:2454:50713:21052,LH00995:41:23WJ53LT4:5:2465:14607:2457,LH00995:41:23WJ53LT4:5:2483:48844:3186,LH00995:41:23WJ53LT4:5:2484:3799:13135,LH00995:41:23WJ53LT4:6:1148:41013:6493,LH00995:41:23WJ53LT4:6:1176:23725:2948,LH00995:41:23WJ53LT4:6:1194:26702:28983,LH00995:41:23WJ53LT4:6:1260:46959:8132,LH00995:41:23WJ53LT4:6:1263:20691:7950,LH00995:41:23WJ53LT4:6:1263:20707:7950,LH00995:41:23WJ53LT4:6:1272:38052:10893,LH00995:41:23WJ53LT4:6:1276:3128:17380,LH00995:41:23WJ53LT4:6:1304:41757:20925,LH00995:41:23WJ53LT4:6:1321:15837:15909,LH00995:41:23WJ53LT4:6:1331:25877:23686,LH00995:41:23WJ53LT4:6:1331:25885:23700,LH00995:41:23WJ53LT4:6:1351:30812:6171,LH00995:41:23WJ53LT4:6:1352:14494:28016,LH00995:41:23WJ53LT4:6:1367:15651:27890,LH00995:41:23WJ53LT4:6:1422:3079:12728,LH00995:41:23WJ53LT4:6:1432:50155:26222,LH00995:41:23WJ53LT4:6:1434:39929:18543,LH00995:41:23WJ53LT4:6:1436:17342:18571,LH00995:41:23WJ53LT4:6:1444:17398:5862,LH00995:41:23WJ53LT4:6:1450:31774:12322,LH00995:41:23WJ53LT4:6:1481:1874:9295,LH00995:41:23WJ53LT4:6:1481:1882:9309,LH00995:41:23WJ53LT4:6:2105:51077:16049,LH00995:41:23WJ53LT4:6:2107:16120:7656,LH00995:41:23WJ53LT4:6:2107:44953:25059,LH00995:41:23WJ53LT4:6:2108:35164:5050,LH00995:41:23WJ53LT4:6:2115:21217:6703,LH00995:41:23WJ53LT4:6:2135:4252:21486,LH00995:41:23WJ53LT4:6:2141:48739:6563,LH00995:41:23WJ53LT4:6:2155:24712:2471,LH00995:41:23WJ53LT4:6:2181:26370:14648,LH00995:41:23WJ53LT4:6:2189:16873:10248,LH00995:41:23WJ53LT4:6:2190:37777:16638

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

3450

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(1),read_through(1)

GTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAG

LH00995:41:23WJ53LT4:1:2413:3168:16750,LH00995:41:23WJ53LT4:3:1224:32640:21304

RBM14

RBM4

+/+

chr11:66619504

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

3450

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

duplicates(5),read_through(1)

GGAGATCTGAAAGACAAAAGAGGAAAATATCTTCTCTTCATTTTT|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGG-AACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTA

LH00995:41:23WJ53LT4:4:1342:9891:17520,LH00995:41:23WJ53LT4:4:2366:31799:19903,LH00995:41:23WJ53LT4:4:2366:31815:19903,LH00995:41:23WJ53LT4:5:1379:4705:11173,LH00995:41:23WJ53LT4:5:2102:25221:14760,LH00995:41:23WJ53LT4:6:2452:27559:7404

RBM14

RBM4

+/+

chr11:66624324

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

4914

3450

low

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000461478.1

ENST00000396053.9

downstream

upstream

duplicates(1),read_through(1)

ATGTGtTCAAGCGGAAG___ACTACGCGTTTGTTCACATGGAGAAGGAAGCAGATGCCAAAGCCGCAATCGCGCAGCTCAACGGCAAAGAAGTGAAGGGCAAGCGCATCAACGTGGAACTCTCCACCAAGG|GCTCTTGTCAGGATGGTGAAGC

LH00995:41:23WJ53LT4:3:2192:19890:7936,LH00995:41:23WJ53LT4:6:2452:50543:3242

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1105

3450

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(99%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),Zinc_knuckle(100%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(5),read_through(2)

CCTCTCCCCACCCCGGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAA

LSPPRASYDDPYKKAVAMSKr|llsgw*

LH00995:41:23WJ53LT4:3:1469:44678:3536,LH00995:41:23WJ53LT4:4:1305:13127:4293,LH00995:41:23WJ53LT4:1:1259:1615:5876,LH00995:41:23WJ53LT4:2:1125:6477:23462,LH00995:41:23WJ53LT4:4:2149:2286:8525,LH00995:41:23WJ53LT4:4:2184:51336:4587,LH00995:41:23WJ53LT4:6:1166:46587:16484

FP671120.4

CD81

+/+

chr21:8217359

chr11:2377536

intron

5'UTR

translocation

65535

14385

medium

|Tetraspanin_family(100%)

ENSG00000278996.1

ENSG00000110651.12

ENST00000263645.10

downstream

upstream

duplicates(10),mismatches(2)

GCGGCGGCGGTCGGCGGGCGGCGGGGCGGGGCGGTTCGTCCCCCCGCCCTACCCCCCCGGCCCCGTCCGCCCCCCGTTCCCCCCTCCTCCTCG|CCGCCCGCGCCGCCATGGGAGTGGAGGGCTGCACCAAGTGCATCAAGTACCTGCTCTTCGTCTTCAATTTCGTCTTCTGG___CTGGCTGGAGGCGTGATCC

LH00995:41:23WJ53LT4:1:1220:51215:2808,LH00995:41:23WJ53LT4:2:2485:2060:15783,LH00995:41:23WJ53LT4:3:1146:20651:4994,LH00995:41:23WJ53LT4:3:1263:21185:19819,LH00995:41:23WJ53LT4:3:1263:21193:19833,LH00995:41:23WJ53LT4:3:1423:47186:13093,LH00995:41:23WJ53LT4:4:1306:22018:6801,LH00995:41:23WJ53LT4:4:1477:48343:20309,LH00995:41:23WJ53LT4:4:2459:45317:18824,LH00995:41:23WJ53LT4:5:1381:38230:26362,LH00995:41:23WJ53LT4:5:1450:32349:13121,LH00995:41:23WJ53LT4:5:2303:26831:15531,LH00995:41:23WJ53LT4:5:2395:40859:2724,LH00995:41:23WJ53LT4:7:1134:2351:16512,LH00995:41:23WJ53LT4:2:1344:47744:4615,LH00995:41:23WJ53LT4:3:1411:20990:6815,LH00995:41:23WJ53LT4:4:1304:9050:7179,LH00995:41:23WJ53LT4:4:1384:43917:9309,LH00995:41:23WJ53LT4:4:2305:11897:3368,LH00995:41:23WJ53LT4:6:1198:3184:26138

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

1023

medium

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(25)

GGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACG

LH00995:41:23WJ53LT4:1:1338:4196:6367,LH00995:41:23WJ53LT4:1:2110:25820:27707,LH00995:41:23WJ53LT4:1:2265:16678:2681,LH00995:41:23WJ53LT4:1:2471:10878:24134,LH00995:41:23WJ53LT4:2:1119:36127:3999,LH00995:41:23WJ53LT4:2:1157:49799:14732,LH00995:41:23WJ53LT4:2:1284:33392:10332,LH00995:41:23WJ53LT4:2:1493:30990:27357,LH00995:41:23WJ53LT4:2:2175:7334:3620,LH00995:41:23WJ53LT4:2:2320:23280:18515,LH00995:41:23WJ53LT4:3:1116:43254:21248,LH00995:41:23WJ53LT4:3:2114:42364:1743,LH00995:41:23WJ53LT4:3:2183:12099:1420,LH00995:41:23WJ53LT4:3:2341:49467:9562,LH00995:41:23WJ53LT4:3:2445:34622:17955,LH00995:41:23WJ53LT4:4:1288:3613:1883,LH00995:41:23WJ53LT4:4:1454:26548:2401,LH00995:41:23WJ53LT4:4:2102:29760:18025,LH00995:41:23WJ53LT4:5:1160:44095:20547,LH00995:41:23WJ53LT4:5:1160:44104:20561,LH00995:41:23WJ53LT4:5:1345:50114:20827,LH00995:41:23WJ53LT4:5:1406:25666:9814,LH00995:41:23WJ53LT4:5:1463:23943:8090,LH00995:41:23WJ53LT4:5:1474:6970:21262,LH00995:41:23WJ53LT4:5:1474:6987:21262,LH00995:41:23WJ53LT4:5:2383:42178:22971,LH00995:41:23WJ53LT4:5:2406:14397:10276,LH00995:41:23WJ53LT4:6:2249:7925:3774,LH00995:41:23WJ53LT4:6:2463:45633:18782,LH00995:41:23WJ53LT4:2:2180:39614:28730,LH00995:41:23WJ53LT4:4:1281:17771:11691,LH00995:41:23WJ53LT4:4:2376:6695:21290,LH00995:41:23WJ53LT4:5:1356:17342:1869,LH00995:41:23WJ53LT4:5:2401:24251:15321,LH00995:41:23WJ53LT4:5:2462:17107:16708,LH00995:41:23WJ53LT4:6:1166:30698:14774,LH00995:41:23WJ53LT4:1:1256:3556:3494,LH00995:41:23WJ53LT4:1:1256:3573:3494

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

1023

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(5)

GACGACATTAGGCAAGAGAAACAGCGGCTCCTCAAGTCCTGCCCAAAGACCGTCCAGAAACCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAAC

LH00995:41:23WJ53LT4:2:1459:39589:22467,LH00995:41:23WJ53LT4:2:2468:24623:5288,LH00995:41:23WJ53LT4:4:1179:30019:23378,LH00995:41:23WJ53LT4:5:2336:29291:1322,LH00995:41:23WJ53LT4:5:2487:33748:4839,LH00995:41:23WJ53LT4:1:1256:3556:3494,LH00995:41:23WJ53LT4:1:1256:3573:3494

PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

TCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGA

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

LH00995:41:23WJ53LT4:1:1101:40681:8384,LH00995:41:23WJ53LT4:1:1133:37381:26769,LH00995:41:23WJ53LT4:1:1216:17301:17296,LH00995:41:23WJ53LT4:1:1312:33320:21024,LH00995:41:23WJ53LT4:1:1312:33336:21024,LH00995:41:23WJ53LT4:1:1376:50187:19608,LH00995:41:23WJ53LT4:1:1386:19615:18810,LH00995:41:23WJ53LT4:1:1413:11938:2541,LH00995:41:23WJ53LT4:1:2119:38926:16357,LH00995:41:23WJ53LT4:1:2234:30893:9730,LH00995:41:23WJ53LT4:1:2337:14171:5288,LH00995:41:23WJ53LT4:1:2363:24267:29417,LH00995:41:23WJ53LT4:1:2437:44273:10795,LH00995:41:23WJ53LT4:1:2465:18329:22103,LH00995:41:23WJ53LT4:1:2465:18337:22117,LH00995:41:23WJ53LT4:2:1108:19413:25437,LH00995:41:23WJ53LT4:2:1208:22390:21094,LH00995:41:23WJ53LT4:2:2255:44662:21948,LH00995:41:23WJ53LT4:2:2268:48132:9295,LH00995:41:23WJ53LT4:2:2353:13620:5288,LH00995:41:23WJ53LT4:2:2356:31281:27721,LH00995:41:23WJ53LT4:2:2356:31297:27721,LH00995:41:23WJ53LT4:2:2462:6024:24246,LH00995:41:23WJ53LT4:3:1135:24510:4979,LH00995:41:23WJ53LT4:3:1270:20351:25830,LH00995:41:23WJ53LT4:3:1298:23328:4391,LH00995:41:23WJ53LT4:3:1412:42372:14396,LH00995:41:23WJ53LT4:3:2174:19728:29375,LH00995:41:23WJ53LT4:3:2192:29752:11733,LH00995:41:23WJ53LT4:3:2204:31305:14928,LH00995:41:23WJ53LT4:3:2263:31192:2653,LH00995:41:23WJ53LT4:3:2290:22390:27483,LH00995:41:23WJ53LT4:3:2437:12601:7586,LH00995:41:23WJ53LT4:3:2469:11396:14522,LH00995:41:23WJ53LT4:4:1221:11064:27483,LH00995:41:23WJ53LT4:4:1227:50260:26937,LH00995:41:23WJ53LT4:4:1459:6097:16666,LH00995:41:23WJ53LT4:4:1476:29113:12140,LH00995:41:23WJ53LT4:4:2136:3945:15405,LH00995:41:23WJ53LT4:4:2137:8152:28969,LH00995:41:23WJ53LT4:4:2269:13523:23812,LH00995:41:23WJ53LT4:4:2302:49993:29613,LH00995:41:23WJ53LT4:4:2322:41830:6143,LH00995:41:23WJ53LT4:5:1391:37680:6044,LH00995:41:23WJ53LT4:5:1417:38473:24485,LH00995:41:23WJ53LT4:5:1428:11833:12728,LH00995:41:23WJ53LT4:5:1448:51037:1546,LH00995:41:23WJ53LT4:5:1473:4932:25550,LH00995:41:23WJ53LT4:5:1473:4940:25536,LH00995:41:23WJ53LT4:5:2318:47218:20211,LH00995:41:23WJ53LT4:6:1108:31960:8637,LH00995:41:23WJ53LT4:6:1155:47331:16456,LH00995:41:23WJ53LT4:6:1186:12043:23125,LH00995:41:23WJ53LT4:6:1211:47372:16554,LH00995:41:23WJ53LT4:6:1250:45875:20379,LH00995:41:23WJ53LT4:6:1426:6267:25115,LH00995:41:23WJ53LT4:6:1427:10481:1869,LH00995:41:23WJ53LT4:6:1427:10490:1883,LH00995:41:23WJ53LT4:6:2130:24590:4475,LH00995:41:23WJ53LT4:6:2161:51401:11173,LH00995:41:23WJ53LT4:6:2210:19607:25578,LH00995:41:23WJ53LT4:6:2385:24477:8118,LH00995:41:23WJ53LT4:6:2387:19203:26671,LH00995:41:23WJ53LT4:7:1112:30027:15825,LH00995:41:23WJ53LT4:1:2211:5304:12406,LH00995:41:23WJ53LT4:1:2217:22560:12252,LH00995:41:23WJ53LT4:1:2472:31071:26909,LH00995:41:23WJ53LT4:2:2198:31135:17212,LH00995:41:23WJ53LT4:2:2444:1040:15307,LH00995:41:23WJ53LT4:3:1304:34226:24302,LH00995:41:23WJ53LT4:3:1380:26702:10963,LH00995:41:23WJ53LT4:3:1416:11735:27637,LH00995:41:23WJ53LT4:3:1427:42575:3985,LH00995:41:23WJ53LT4:4:1236:44112:28534,LH00995:41:23WJ53LT4:4:2240:8880:27988,LH00995:41:23WJ53LT4:4:2289:42065:20141,LH00995:41:23WJ53LT4:4:2491:15530:12966,LH00995:41:23WJ53LT4:5:1160:6906:18543,LH00995:41:23WJ53LT4:5:1329:3265:28268,LH00995:41:23WJ53LT4:5:2326:21071:13065,LH00995:41:23WJ53LT4:5:2408:7343:27147,LH00995:41:23WJ53LT4:6:2316:32009:22341,LH00995:41:23WJ53LT4:6:2433:50567:16932,LH00995:41:23WJ53LT4:7:1101:33659:15110,LH00995:41:23WJ53LT4:7:1124:51959:22313,LH00995:41:23WJ53LT4:7:1187:25448:26951

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

237

7361

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(75)

LNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDT

SOWAHA

+/+

chr5:132813647

chr5:132813639

CDS

duplication/ITD

112

203

medium

in-frame

|Ankyrin_repeats_(3_copies)(100%)

ENSG00000198944.6

ENST00000378693.4

downstream

upstream

duplicates(46),low_entropy(4)

CCCCGGGAGCCAGGAACCCAGGGCCCCACCATGGCGCTGGCCGCCGCCGCCGCCGC|CGCCGCCGCTGCGGCTGCCGGGGTGAGCCAGGCGGCGGTGCTGGGCTTCCTGCAGGAGCACGGCGGGAAGGTGCGCAACTCCGAGCTGCTGAGCCGCTTCAAGCCGCTGCTCGATGCCGGCGACCCGCGGGGCCGCGCC

MALAAAAAa|AAAAAAGVSQAAVLGFLQEHGGKVRNSELLSRFKPLLDAGDPRGR

LH00995:41:23WJ53LT4:1:1310:33991:2541,LH00995:41:23WJ53LT4:1:1326:5886:10556,LH00995:41:23WJ53LT4:1:2129:45988:25087,LH00995:41:23WJ53LT4:1:2420:23612:9141,LH00995:41:23WJ53LT4:2:1180:16719:28730,LH00995:41:23WJ53LT4:2:1367:21807:27820,LH00995:41:23WJ53LT4:2:2440:50317:5568,LH00995:41:23WJ53LT4:3:1437:48035:5708,LH00995:41:23WJ53LT4:4:1351:35827:12448,LH00995:41:23WJ53LT4:4:1473:12569:26474,LH00995:41:23WJ53LT4:4:1473:12569:26474,LH00995:41:23WJ53LT4:4:2328:40148:28086,LH00995:41:23WJ53LT4:5:2135:13273:5358,LH00995:41:23WJ53LT4:5:2189:7585:29305,LH00995:41:23WJ53LT4:5:2262:35148:19398,LH00995:41:23WJ53LT4:6:1303:12876:17366,LH00995:41:23WJ53LT4:6:1420:49119:18964,LH00995:41:23WJ53LT4:6:1420:49119:18964,LH00995:41:23WJ53LT4:6:2296:33311:16694,LH00995:41:23WJ53LT4:6:2391:28530:24555,LH00995:41:23WJ53LT4:6:2391:28530:24555,LH00995:41:23WJ53LT4:6:2393:38732:15068,LH00995:41:23WJ53LT4:6:2393:38732:15068,LH00995:41:23WJ53LT4:6:2461:44516:17324,LH00995:41:23WJ53LT4:6:2461:44516:17324,LH00995:41:23WJ53LT4:4:1473:12569:26474,LH00995:41:23WJ53LT4:4:1473:12569:26474,LH00995:41:23WJ53LT4:6:1420:49119:18964,LH00995:41:23WJ53LT4:6:1420:49119:18964,LH00995:41:23WJ53LT4:6:2391:28530:24555,LH00995:41:23WJ53LT4:6:2391:28530:24555,LH00995:41:23WJ53LT4:6:2393:38732:15068,LH00995:41:23WJ53LT4:6:2393:38732:15068,LH00995:41:23WJ53LT4:6:2461:44516:17324,LH00995:41:23WJ53LT4:6:2461:44516:17324,LH00995:41:23WJ53LT4:1:1129:5417:10725,LH00995:41:23WJ53LT4:1:1129:5417:10725,LH00995:41:23WJ53LT4:1:1310:33991:2541,LH00995:41:23WJ53LT4:1:1326:5886:10556,LH00995:41:23WJ53LT4:1:2129:45988:25087,LH00995:41:23WJ53LT4:1:2420:23612:9141,LH00995:41:23WJ53LT4:2:1140:50616:10318,LH00995:41:23WJ53LT4:2:1140:50616:10318,LH00995:41:23WJ53LT4:2:1180:16719:28730,LH00995:41:23WJ53LT4:2:1367:21807:27820,LH00995:41:23WJ53LT4:2:2440:50317:5568,LH00995:41:23WJ53LT4:3:1209:4632:15895,LH00995:41:23WJ53LT4:3:1209:4632:15895,LH00995:41:23WJ53LT4:3:1437:48035:5708,LH00995:41:23WJ53LT4:4:1351:35827:12448,LH00995:41:23WJ53LT4:4:1387:15513:15180,LH00995:41:23WJ53LT4:4:1387:15513:15180,LH00995:41:23WJ53LT4:4:1439:4430:27091,LH00995:41:23WJ53LT4:4:1439:4430:27091,LH00995:41:23WJ53LT4:4:2328:40148:28086,LH00995:41:23WJ53LT4:5:2135:13273:5358,LH00995:41:23WJ53LT4:5:2189:7585:29305,LH00995:41:23WJ53LT4:5:2262:35148:19398,LH00995:41:23WJ53LT4:6:1303:12876:17366,LH00995:41:23WJ53LT4:6:2296:33311:16694

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

CCGCCTCGCACTTTGTGGGCGTGGATGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACCGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGC

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

LH00995:41:23WJ53LT4:1:1308:17479:19454,LH00995:41:23WJ53LT4:1:1395:36992:28226,LH00995:41:23WJ53LT4:1:2468:22439:16750,LH00995:41:23WJ53LT4:2:1207:41636:14942,LH00995:41:23WJ53LT4:2:2131:1210:7474,LH00995:41:23WJ53LT4:2:2476:39605:13219,LH00995:41:23WJ53LT4:3:2392:2319:2219,LH00995:41:23WJ53LT4:3:2435:2003:10612,LH00995:41:23WJ53LT4:3:2495:12609:28086,LH00995:41:23WJ53LT4:4:1404:24380:16273,LH00995:41:23WJ53LT4:4:2163:9559:13359,LH00995:41:23WJ53LT4:4:2367:40560:3971,LH00995:41:23WJ53LT4:4:2381:27074:24443,LH00995:41:23WJ53LT4:4:2381:27082:24457,LH00995:41:23WJ53LT4:4:2382:26799:2639,LH00995:41:23WJ53LT4:4:2447:26354:28240,LH00995:41:23WJ53LT4:5:1113:25254:4839,LH00995:41:23WJ53LT4:5:1183:5765:22425,LH00995:41:23WJ53LT4:5:1418:48780:3186,LH00995:41:23WJ53LT4:5:1426:3823:13849,LH00995:41:23WJ53LT4:5:2245:22536:4895,LH00995:41:23WJ53LT4:5:2457:10975:1575,LH00995:41:23WJ53LT4:6:1471:49087:5232,LH00995:41:23WJ53LT4:6:1474:39322:19847,LH00995:41:23WJ53LT4:6:1474:39330:19861,LH00995:41:23WJ53LT4:6:2120:39889:28394,LH00995:41:23WJ53LT4:6:2120:39897:28380,LH00995:41:23WJ53LT4:6:2342:24283:13779,LH00995:41:23WJ53LT4:6:2412:42728:8146,LH00995:41:23WJ53LT4:6:2478:27503:27820,LH00995:41:23WJ53LT4:6:2478:27519:27820,LH00995:41:23WJ53LT4:6:2489:20408:15783,LH00995:41:23WJ53LT4:6:2489:20424:15783,LH00995:41:23WJ53LT4:1:1133:13030:16091,LH00995:41:23WJ53LT4:1:1169:41709:2457,LH00995:41:23WJ53LT4:1:1173:31685:5806,LH00995:41:23WJ53LT4:1:1379:43311:6353,LH00995:41:23WJ53LT4:1:2146:39136:14928,LH00995:41:23WJ53LT4:1:2221:36515:8062,LH00995:41:23WJ53LT4:1:2413:41159:15881,LH00995:41:23WJ53LT4:2:1266:9794:12728,LH00995:41:23WJ53LT4:2:1266:9802:12714,LH00995:41:23WJ53LT4:2:1266:9810:12728,LH00995:41:23WJ53LT4:2:1343:25780:24050,LH00995:41:23WJ53LT4:2:2427:49500:15110,LH00995:41:23WJ53LT4:3:1145:26297:24499,LH00995:41:23WJ53LT4:3:1187:6695:27315,LH00995:41:23WJ53LT4:3:1215:17876:7894,LH00995:41:23WJ53LT4:3:1242:42332:9562,LH00995:41:23WJ53LT4:3:1433:52048:27287,LH00995:41:23WJ53LT4:3:1459:48602:15377,LH00995:41:23WJ53LT4:3:1466:37001:24709,LH00995:41:23WJ53LT4:3:1485:10344:6227,LH00995:41:23WJ53LT4:3:2125:8702:3074,LH00995:41:23WJ53LT4:3:2127:28231:28044,LH00995:41:23WJ53LT4:3:2185:10538:1995,LH00995:41:23WJ53LT4:3:2273:11663:1813,LH00995:41:23WJ53LT4:3:2342:28320:3873,LH00995:41:23WJ53LT4:3:2476:7577:1827,LH00995:41:23WJ53LT4:4:1104:33239:26657,LH00995:41:23WJ53LT4:4:1123:34137:14256,LH00995:41:23WJ53LT4:4:1139:42405:18151,LH00995:41:23WJ53LT4:4:1182:42971:29389,LH00995:41:23WJ53LT4:4:1359:43206:24050,LH00995:41:23WJ53LT4:4:1387:43820:19314,LH00995:41:23WJ53LT4:4:2132:5781:7292,LH00995:41:23WJ53LT4:4:2163:38400:4741,LH00995:41:23WJ53LT4:4:2182:23336:7011,LH00995:41:23WJ53LT4:4:2266:45600:8637,LH00995:41:23WJ53LT4:4:2321:33336:15559,LH00995:41:23WJ53LT4:4:2327:3500:9982,LH00995:41:23WJ53LT4:4:2333:34946:9968,LH00995:41:23WJ53LT4:4:2371:20133:28450,LH00995:41:23WJ53LT4:4:2497:14470:23097,LH00995:41:23WJ53LT4:5:1151:2845:18684,LH00995:41:23WJ53LT4:5:1251:26670:19819,LH00995:41:23WJ53LT4:5:1287:42777:14844,LH00995:41:23WJ53LT4:5:1312:2003:18207,LH00995:41:23WJ53LT4:5:1349:27843:21794,LH00995:41:23WJ53LT4:5:1358:8330:7586,LH00995:41:23WJ53LT4:5:1370:31782:17633,LH00995:41:23WJ53LT4:5:1370:31791:17647,LH00995:41:23WJ53LT4:5:1471:25294:12056,LH00995:41:23WJ53LT4:5:1494:32122:19594,LH00995:41:23WJ53LT4:5:1494:32130:19580,LH00995:41:23WJ53LT4:5:2345:10401:12686,LH00995:41:23WJ53LT4:5:2465:48246:20841,LH00995:41:23WJ53LT4:5:2470:37276:28576,LH00995:41:23WJ53LT4:5:2471:37737:22341,LH00995:41:23WJ53LT4:6:1126:35520:6563,LH00995:41:23WJ53LT4:6:1258:47420:14956,LH00995:41:23WJ53LT4:6:1398:32454:24232,LH00995:41:23WJ53LT4:6:2134:28967:9309,LH00995:41:23WJ53LT4:6:2171:33595:20603,LH00995:41:23WJ53LT4:6:2237:19890:5582,LH00995:41:23WJ53LT4:6:2363:36345:4097,LH00995:41:23WJ53LT4:6:2414:28684:18403,LH00995:41:23WJ53LT4:6:2473:29056:22299,LH00995:41:23WJ53LT4:6:2473:29064:22313,LH00995:41:23WJ53LT4:6:2492:8532:26657,LH00995:41:23WJ53LT4:7:1112:19858:12224

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

250

7361

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(90),mismappers(2)

ASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILAS

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

TCCCTCACCGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

LH00995:41:23WJ53LT4:1:1123:35229:4685,LH00995:41:23WJ53LT4:1:1160:13766:17310,LH00995:41:23WJ53LT4:1:1160:13774:17324,LH00995:41:23WJ53LT4:1:1160:13782:17310,LH00995:41:23WJ53LT4:1:1253:47437:10781,LH00995:41:23WJ53LT4:1:1261:47558:18698,LH00995:41:23WJ53LT4:1:1276:23992:15180,LH00995:41:23WJ53LT4:1:1422:39460:7137,LH00995:41:23WJ53LT4:1:2170:29283:29557,LH00995:41:23WJ53LT4:1:2170:29291:29543,LH00995:41:23WJ53LT4:1:2222:8257:6759,LH00995:41:23WJ53LT4:1:2358:8564:21024,LH00995:41:23WJ53LT4:1:2383:47210:23532,LH00995:41:23WJ53LT4:1:2417:51506:24835,LH00995:41:23WJ53LT4:2:1178:1469:18375,LH00995:41:23WJ53LT4:2:1359:17309:6353,LH00995:41:23WJ53LT4:2:1364:39436:18109,LH00995:41:23WJ53LT4:2:1369:13774:24891,LH00995:41:23WJ53LT4:2:1418:22544:20603,LH00995:41:23WJ53LT4:2:2241:37219:14774,LH00995:41:23WJ53LT4:3:1109:26985:12770,LH00995:41:23WJ53LT4:3:1412:14988:4293,LH00995:41:23WJ53LT4:3:2136:35383:8847,LH00995:41:23WJ53LT4:3:2283:13612:26797,LH00995:41:23WJ53LT4:4:1125:35277:22677,LH00995:41:23WJ53LT4:4:1132:41126:28800,LH00995:41:23WJ53LT4:4:1315:24186:23280,LH00995:41:23WJ53LT4:4:1370:9503:6563,LH00995:41:23WJ53LT4:4:1430:51376:29431,LH00995:41:23WJ53LT4:4:2437:4446:10332,LH00995:41:23WJ53LT4:4:2457:38740:17773,LH00995:41:23WJ53LT4:5:1477:47000:1925,LH00995:41:23WJ53LT4:5:2157:26386:11817,LH00995:41:23WJ53LT4:5:2214:24016:17100,LH00995:41:23WJ53LT4:5:2222:6517:11874,LH00995:41:23WJ53LT4:5:2234:4552:8917,LH00995:41:23WJ53LT4:5:2320:45535:26769,LH00995:41:23WJ53LT4:5:2320:45552:26769,LH00995:41:23WJ53LT4:5:2328:29056:13387,LH00995:41:23WJ53LT4:5:2361:41215:18277,LH00995:41:23WJ53LT4:5:2361:5692:24597,LH00995:41:23WJ53LT4:6:1167:33400:26068,LH00995:41:23WJ53LT4:6:1223:46789:23588,LH00995:41:23WJ53LT4:6:1245:26597:16806,LH00995:41:23WJ53LT4:6:2135:27891:3802,LH00995:41:23WJ53LT4:6:2135:32195:1729,LH00995:41:23WJ53LT4:6:2150:32656:6815,LH00995:41:23WJ53LT4:6:2267:22616:19748,LH00995:41:23WJ53LT4:6:2291:43343:25550,LH00995:41:23WJ53LT4:6:2350:43934:16568,LH00995:41:23WJ53LT4:6:2394:37033:7810,LH00995:41:23WJ53LT4:1:1434:43594:20267,LH00995:41:23WJ53LT4:2:2325:36240:29025,LH00995:41:23WJ53LT4:3:1342:11266:20603,LH00995:41:23WJ53LT4:3:2282:25699:9029,LH00995:41:23WJ53LT4:5:1354:38222:25423,LH00995:41:23WJ53LT4:6:1111:44993:29473,LH00995:41:23WJ53LT4:6:2406:46806:5316

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

108

7361

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(51)

SLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTS

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

118

301

medium

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(30),mismappers(1)

GGCAGAGGGTGTGTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAG

QRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHL

LH00995:41:23WJ53LT4:1:1420:22244:11229,LH00995:41:23WJ53LT4:1:2455:39104:26671,LH00995:41:23WJ53LT4:2:2112:39953:23658,LH00995:41:23WJ53LT4:2:2335:5595:22579,LH00995:41:23WJ53LT4:2:2401:33206:17745,LH00995:41:23WJ53LT4:2:2494:51255:14760,LH00995:41:23WJ53LT4:3:1366:4592:2373,LH00995:41:23WJ53LT4:3:2351:33910:9043,LH00995:41:23WJ53LT4:3:2351:33918:9029,LH00995:41:23WJ53LT4:5:1256:46425:24891,LH00995:41:23WJ53LT4:5:1291:21921:26334,LH00995:41:23WJ53LT4:5:2259:19971:6787,LH00995:41:23WJ53LT4:6:1223:51344:9533,LH00995:41:23WJ53LT4:6:2350:1348:6367,LH00995:41:23WJ53LT4:7:1156:36952:20589,LH00995:41:23WJ53LT4:2:1314:37081:14284,LH00995:41:23WJ53LT4:2:2150:31944:20968,LH00995:41:23WJ53LT4:3:1127:8410:1729,LH00995:41:23WJ53LT4:3:1398:15967:6044,LH00995:41:23WJ53LT4:4:1311:44605:7278,LH00995:41:23WJ53LT4:4:1363:3767:12630,LH00995:41:23WJ53LT4:4:1363:3783:12630,LH00995:41:23WJ53LT4:5:1431:33635:25409,LH00995:41:23WJ53LT4:5:2102:10215:2667,LH00995:41:23WJ53LT4:5:2244:8281:28941,LH00995:41:23WJ53LT4:6:1126:34258:18613,LH00995:41:23WJ53LT4:6:1150:9875:11635,LH00995:41:23WJ53LT4:6:1229:29428:21990,LH00995:41:23WJ53LT4:6:1320:3670:22327,LH00995:41:23WJ53LT4:6:1362:31329:3648,LH00995:41:23WJ53LT4:6:2119:17860:19160,LH00995:41:23WJ53LT4:6:2123:45212:5218,LH00995:41:23WJ53LT4:6:2243:12925:25353,LH00995:41:23WJ53LT4:6:2243:12933:25339,LH00995:41:23WJ53LT4:6:2479:47639:13401,LH00995:41:23WJ53LT4:7:1158:37284:13121

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

118

301

medium

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(30),mismappers(1)

QRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHL

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

118

301

medium

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(30),mismappers(1)

QRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHL

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GGCTTAGCGAGCATGCCCGGCTCGCACTTTGTGGGCGTGGAAGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGC

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

LH00995:41:23WJ53LT4:1:1132:22414:13569,LH00995:41:23WJ53LT4:1:1132:22430:13569,LH00995:41:23WJ53LT4:1:1174:37454:4643,LH00995:41:23WJ53LT4:1:2493:27139:1182,LH00995:41:23WJ53LT4:1:2493:27147:1196,LH00995:41:23WJ53LT4:1:2493:27155:1210,LH00995:41:23WJ53LT4:2:2174:37801:2527,LH00995:41:23WJ53LT4:2:2467:7448:17156,LH00995:41:23WJ53LT4:3:1236:42049:9716,LH00995:41:23WJ53LT4:3:1312:21193:17983,LH00995:41:23WJ53LT4:3:1407:22827:9071,LH00995:41:23WJ53LT4:4:2195:11323:7558,LH00995:41:23WJ53LT4:4:2309:2076:8749,LH00995:41:23WJ53LT4:4:2309:2084:8763,LH00995:41:23WJ53LT4:5:1208:9486:18866,LH00995:41:23WJ53LT4:5:1212:41102:4237,LH00995:41:23WJ53LT4:5:2433:51635:25143,LH00995:41:23WJ53LT4:6:1113:30197:12728,LH00995:41:23WJ53LT4:6:1158:21071:20687,LH00995:41:23WJ53LT4:6:1172:33627:16764,LH00995:41:23WJ53LT4:6:1288:31532:18235,LH00995:41:23WJ53LT4:6:1304:3532:25339,LH00995:41:23WJ53LT4:6:1365:30480:17983,LH00995:41:23WJ53LT4:6:2326:15125:27595,LH00995:41:23WJ53LT4:6:2484:10328:2724,LH00995:41:23WJ53LT4:7:1145:36054:3901,LH00995:41:23WJ53LT4:1:1455:48318:24022,LH00995:41:23WJ53LT4:2:1172:19753:2121,LH00995:41:23WJ53LT4:2:2150:35544:29529,LH00995:41:23WJ53LT4:2:2353:42833:2387,LH00995:41:23WJ53LT4:2:2435:6501:15713,LH00995:41:23WJ53LT4:4:1344:42372:11677,LH00995:41:23WJ53LT4:4:1344:42388:11677,LH00995:41:23WJ53LT4:4:2340:50826:20435,LH00995:41:23WJ53LT4:5:1466:40471:11159,LH00995:41:23WJ53LT4:5:2112:1833:15054,LH00995:41:23WJ53LT4:5:2330:42097:2878,LH00995:41:23WJ53LT4:5:2362:37081:12742,LH00995:41:23WJ53LT4:6:1436:32171:4013,LH00995:41:23WJ53LT4:6:2390:19033:25844,LH00995:41:23WJ53LT4:6:2425:24097:12840,LH00995:41:23WJ53LT4:6:2498:47388:28240

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

231

7361

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(36),mismatches(1)

GLASMPGSHFVGVEGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQ

PKD1P3

AC138932.3(18801),PDXDC1(2670)

+/+

./-

chr16:14911907

chr16:14971921

exon/splice-site

intergenic

inversion

8496

medium

ENSG00000183458.14

ENST00000534164.6

downstream

duplicates(10),mismappers(1)

CCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGGCGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCTTGCGAGCCCCCCTGCCTCTGCGGCCTAGCGCCCGGCGCCGCCTGCCGCGTCAACTGCTCGGGCCGCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCT|ACGAGTCTCACTCTGTTGTCCAGGCTGAAGTGTAACGGCGCAGTCTTGGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGTGATTCTGCTGCCTCAGCCTCCCGGAGTAGCTTCGACTGGAGGCGTGCGCCATCGCACACACTGTATTTTTAGTAGAGACAGGGTCTTACCATGTTGGCCAGGCTGGTCTCAAAC

LH00995:41:23WJ53LT4:1:1273:27689:24611,LH00995:41:23WJ53LT4:1:1370:17212:9604,LH00995:41:23WJ53LT4:1:1370:17220:9590,LH00995:41:23WJ53LT4:1:2146:22341:13135,LH00995:41:23WJ53LT4:1:2397:23320:22565,LH00995:41:23WJ53LT4:2:1403:52088:17520,LH00995:41:23WJ53LT4:2:2140:35318:18571,LH00995:41:23WJ53LT4:2:2403:44176:17941,LH00995:41:23WJ53LT4:3:1203:28190:16484,LH00995:41:23WJ53LT4:4:1179:15497:1560,LH00995:41:23WJ53LT4:4:1444:1065:19973,LH00995:41:23WJ53LT4:5:1412:23968:22060,LH00995:41:23WJ53LT4:5:2110:36604:14550,LH00995:41:23WJ53LT4:3:2291:15449:25550,LH00995:41:23WJ53LT4:4:2312:43796:21038,LH00995:41:23WJ53LT4:6:1451:14737:28744

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

GCCGCGGTCTCCTGCGTCTTCCTGGCCTTCGTCATCGTGTTGCTGGCGCACAGGCTGCGGCGCTGGCACAAGTCACGCCTGCTGCAGGCTTCAGGAGGCAGCTTGACAGGCATGCAGAGCTCGCACTTTGTGGGCGTGGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGC

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

LH00995:41:23WJ53LT4:1:1325:13734:16526,LH00995:41:23WJ53LT4:1:2176:17981:18922,LH00995:41:23WJ53LT4:1:2325:3378:17591,LH00995:41:23WJ53LT4:1:2367:30933:18655,LH00995:41:23WJ53LT4:2:1340:3953:14494,LH00995:41:23WJ53LT4:2:2231:47469:4923,LH00995:41:23WJ53LT4:2:2264:17949:7936,LH00995:41:23WJ53LT4:2:2303:28684:6072,LH00995:41:23WJ53LT4:2:2364:20189:23896,LH00995:41:23WJ53LT4:3:1114:16840:9940,LH00995:41:23WJ53LT4:3:1257:18377:6241,LH00995:41:23WJ53LT4:3:2159:17698:2177,LH00995:41:23WJ53LT4:4:1127:34962:21486,LH00995:41:23WJ53LT4:4:1127:34978:21486,LH00995:41:23WJ53LT4:4:1451:33764:7838,LH00995:41:23WJ53LT4:4:2338:2408:3298,LH00995:41:23WJ53LT4:5:2111:48990:27904,LH00995:41:23WJ53LT4:5:2141:16832:21696,LH00995:41:23WJ53LT4:6:1107:16322:20841,LH00995:41:23WJ53LT4:6:1193:6574:7207,LH00995:41:23WJ53LT4:6:1450:47849:5806,LH00995:41:23WJ53LT4:6:2208:44646:9870,LH00995:41:23WJ53LT4:6:2461:7456:14368,LH00995:41:23WJ53LT4:7:1137:34120:27231,LH00995:41:23WJ53LT4:1:1239:49653:19328,LH00995:41:23WJ53LT4:1:2195:50826:4097,LH00995:41:23WJ53LT4:1:2230:6946:16231,LH00995:41:23WJ53LT4:2:1269:50325:25872,LH00995:41:23WJ53LT4:2:1288:51166:29375,LH00995:41:23WJ53LT4:2:1346:36814:16988,LH00995:41:23WJ53LT4:2:1423:9147:6983,LH00995:41:23WJ53LT4:2:2134:49564:18361,LH00995:41:23WJ53LT4:3:2174:27859:2429,LH00995:41:23WJ53LT4:3:2351:1817:18221,LH00995:41:23WJ53LT4:3:2351:1833:18221,LH00995:41:23WJ53LT4:4:1445:32915:21780,LH00995:41:23WJ53LT4:4:1445:32923:21794,LH00995:41:23WJ53LT4:4:1458:8378:9547,LH00995:41:23WJ53LT4:4:2161:32341:18403,LH00995:41:23WJ53LT4:4:2475:33263:20169,LH00995:41:23WJ53LT4:5:1184:28773:9141,LH00995:41:23WJ53LT4:5:1270:22333:7348,LH00995:41:23WJ53LT4:5:1294:42793:29585,LH00995:41:23WJ53LT4:5:2111:51563:20841,LH00995:41:23WJ53LT4:5:2112:44743:22453,LH00995:41:23WJ53LT4:5:2378:21265:6339,LH00995:41:23WJ53LT4:6:1358:3144:17408,LH00995:41:23WJ53LT4:6:1361:2391:21766,LH00995:41:23WJ53LT4:6:1465:27600:25493,LH00995:41:23WJ53LT4:6:2383:2100:25297,LH00995:41:23WJ53LT4:2:1393:30529:21094,LH00995:41:23WJ53LT4:2:1393:30537:21080,LH00995:41:23WJ53LT4:2:2245:48132:21934,LH00995:41:23WJ53LT4:3:1346:24137:25381,LH00995:41:23WJ53LT4:3:1377:49621:19244,LH00995:41:23WJ53LT4:4:2295:3662:4853,LH00995:41:23WJ53LT4:4:2295:3670:4867,LH00995:41:23WJ53LT4:4:2295:3678:4881,LH00995:41:23WJ53LT4:4:2295:3686:4867,LH00995:41:23WJ53LT4:4:2295:3702:4867,LH00995:41:23WJ53LT4:5:1345:36588:18193,LH00995:41:23WJ53LT4:5:1345:36596:18207,LH00995:41:23WJ53LT4:6:2194:47647:24989

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

274

180

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(16),mismatches(6)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAA

LH00995:41:23WJ53LT4:1:1334:38521:6437,LH00995:41:23WJ53LT4:1:1417:23425:23560,LH00995:41:23WJ53LT4:1:1464:36272:6493,LH00995:41:23WJ53LT4:1:2401:29194:6086,LH00995:41:23WJ53LT4:2:1180:28158:21668,LH00995:41:23WJ53LT4:2:1355:14251:6605,LH00995:41:23WJ53LT4:2:1425:27098:18768,LH00995:41:23WJ53LT4:3:1179:9567:21668,LH00995:41:23WJ53LT4:3:2373:6938:28744,LH00995:41:23WJ53LT4:3:2446:10886:12490,LH00995:41:23WJ53LT4:5:1284:25302:15461,LH00995:41:23WJ53LT4:6:2452:38263:23504,LH00995:41:23WJ53LT4:1:1103:40083:21864,LH00995:41:23WJ53LT4:1:1479:28417:20771,LH00995:41:23WJ53LT4:1:1479:28433:20771,LH00995:41:23WJ53LT4:1:2226:48068:28716,LH00995:41:23WJ53LT4:1:2380:31807:17310,LH00995:41:23WJ53LT4:2:2230:48885:22649,LH00995:41:23WJ53LT4:2:2412:14632:22873,LH00995:41:23WJ53LT4:3:1182:7610:8945,LH00995:41:23WJ53LT4:3:2356:1696:12126,LH00995:41:23WJ53LT4:4:2201:34056:9519,LH00995:41:23WJ53LT4:5:1206:32761:10108,LH00995:41:23WJ53LT4:5:1429:29954:24611,LH00995:41:23WJ53LT4:5:1475:9357:9505,LH00995:41:23WJ53LT4:5:2460:48367:13709

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7361

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(56),mismappers(3)

AAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGSLTGMQSSHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

RALGAPA1

-/-

chr14:35570620

chr14:35715891

CDS

intron

duplication

425

medium

out-of-frame

Rap/ran-GAP(99%)|Rap/ran-GAP(100%)

ENSG00000174373.17

ENST00000307138.10

upstream

downstream

duplicates(5)

TCCCTTCTTTGGTCCCCTTTTTGATGGTGCTATTGTGAATGGAAAGGTTCTACCCATTATGGTTAGAGCAACAGCTATAAATGCAAGCCGTGCTCTGAAATCTCTGATTCCATTGTATCAAAA|ct|TGAGTGGAAAATGGAGTGATGAGCAGTAAGCACACTGGAAAAGTGGGATGATCTTGAAGCAAATTGCTGATAATCACTTCTGGGATTCAGACTGAGACTTGAGCAAGCTTCAAGGTTGGATGACTGAATTGAAGACTTCCATGTTAAATTGGTTATCTTGAGAAGGATACAAGTTAATTTCAG

PFFGPLFDGAIVNGKVLPIMVRATAINASRALKSLIPLYQn|lsgkwsdeq*

LH00995:41:23WJ53LT4:1:1288:23701:25157,LH00995:41:23WJ53LT4:3:1487:4770:9351,LH00995:41:23WJ53LT4:5:1306:51732:5358,LH00995:41:23WJ53LT4:6:2273:43400:19959,LH00995:41:23WJ53LT4:6:2302:16306:19524,LH00995:41:23WJ53LT4:2:1136:31993:10654,LH00995:41:23WJ53LT4:6:1172:46903:17955,LH00995:41:23WJ53LT4:6:2282:2917:22257

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

GGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCC

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

LH00995:41:23WJ53LT4:1:1107:40503:20099,LH00995:41:23WJ53LT4:2:1180:10028:22159,LH00995:41:23WJ53LT4:2:1180:10045:22159,LH00995:41:23WJ53LT4:2:2452:45835:26923,LH00995:41:23WJ53LT4:3:1119:28457:16498,LH00995:41:23WJ53LT4:3:1480:32729:29361,LH00995:41:23WJ53LT4:3:1480:32737:29375,LH00995:41:23WJ53LT4:3:2153:36297:15923,LH00995:41:23WJ53LT4:3:2153:36305:15937,LH00995:41:23WJ53LT4:3:2153:36321:15937,LH00995:41:23WJ53LT4:3:2189:42469:2878,LH00995:41:23WJ53LT4:3:2225:44516:4741,LH00995:41:23WJ53LT4:3:2270:27681:14480,LH00995:41:23WJ53LT4:4:1377:18604:4951,LH00995:41:23WJ53LT4:4:1446:28716:13023,LH00995:41:23WJ53LT4:4:2117:20303:16077,LH00995:41:23WJ53LT4:4:2392:8443:7950,LH00995:41:23WJ53LT4:4:2483:51546:24513,LH00995:41:23WJ53LT4:5:1109:42866:18810,LH00995:41:23WJ53LT4:5:1251:7197:7249,LH00995:41:23WJ53LT4:5:1251:7205:7263,LH00995:41:23WJ53LT4:5:2244:2125:19118,LH00995:41:23WJ53LT4:5:2264:7092:12280,LH00995:41:23WJ53LT4:6:1391:48116:14144,LH00995:41:23WJ53LT4:6:2112:35674:17899,LH00995:41:23WJ53LT4:1:1187:15004:29739,LH00995:41:23WJ53LT4:1:1401:38392:25409,LH00995:41:23WJ53LT4:1:2159:32664:19188,LH00995:41:23WJ53LT4:1:2241:6525:19482,LH00995:41:23WJ53LT4:1:2369:27406:21654,LH00995:41:23WJ53LT4:2:1161:30642:20505,LH00995:41:23WJ53LT4:3:1313:38732:27287,LH00995:41:23WJ53LT4:3:2380:38222:7404,LH00995:41:23WJ53LT4:4:1192:28466:15783,LH00995:41:23WJ53LT4:4:1278:38230:13303,LH00995:41:23WJ53LT4:4:2384:5692:16049,LH00995:41:23WJ53LT4:5:1414:3079:2163,LH00995:41:23WJ53LT4:5:2109:17212:20757,LH00995:41:23WJ53LT4:5:2239:2634:22131,LH00995:41:23WJ53LT4:5:2467:17908:18936,LH00995:41:23WJ53LT4:6:2241:11339:12630,LH00995:41:23WJ53LT4:6:2372:19542:24092

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

101

7361

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(37),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

301

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(33),mismatches(1)

CCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCaTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCT

DLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWhYSASLRAGMHSSVHLEEAGILRAGPGG

LH00995:41:23WJ53LT4:1:2105:41612:1841,LH00995:41:23WJ53LT4:1:2418:31491:10402,LH00995:41:23WJ53LT4:2:1210:12852:22957,LH00995:41:23WJ53LT4:2:1374:12342:19300,LH00995:41:23WJ53LT4:2:2262:22641:25255,LH00995:41:23WJ53LT4:3:1125:3451:19734,LH00995:41:23WJ53LT4:3:1309:12027:14774,LH00995:41:23WJ53LT4:4:1380:42348:23490,LH00995:41:23WJ53LT4:5:2296:38263:2373,LH00995:41:23WJ53LT4:6:1136:50818:24849,LH00995:41:23WJ53LT4:1:2327:37251:27665,LH00995:41:23WJ53LT4:1:2363:36984:7249,LH00995:41:23WJ53LT4:1:2479:13628:13653,LH00995:41:23WJ53LT4:2:1215:12455:17871,LH00995:41:23WJ53LT4:2:1215:12472:17871,LH00995:41:23WJ53LT4:2:1215:12488:17871,LH00995:41:23WJ53LT4:2:1341:3176:8413,LH00995:41:23WJ53LT4:2:1419:5587:26460,LH00995:41:23WJ53LT4:2:2461:35164:4125,LH00995:41:23WJ53LT4:3:1263:15368:25858,LH00995:41:23WJ53LT4:3:2115:6712:21038,LH00995:41:23WJ53LT4:3:2477:42542:24667,LH00995:41:23WJ53LT4:4:1198:15295:3732,LH00995:41:23WJ53LT4:4:1353:14065:6787,LH00995:41:23WJ53LT4:4:1461:45908:26769,LH00995:41:23WJ53LT4:4:2332:39500:21388,LH00995:41:23WJ53LT4:4:2448:4123:23336,LH00995:41:23WJ53LT4:5:1167:17900:1659,LH00995:41:23WJ53LT4:5:2320:29202:6941,LH00995:41:23WJ53LT4:5:2377:26742:13079,LH00995:41:23WJ53LT4:5:2492:28999:5190,LH00995:41:23WJ53LT4:6:1157:18749:4979,LH00995:41:23WJ53LT4:6:1260:31362:9674,LH00995:41:23WJ53LT4:6:1377:1396:2976,LH00995:41:23WJ53LT4:6:2279:21201:10626,LH00995:41:23WJ53LT4:6:2350:43901:1238,LH00995:41:23WJ53LT4:7:1141:35949:23784

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

301

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(33),mismatches(1)

DLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWhYSASLRAGMHSSVHLEEAGILRAGPGG

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

301

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(33),mismatches(1)

DLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWhYSASLRAGMHSSVHLEEAGILRAGPGG

RBM33(11092),SHH(7403)

MYH11

./-

-/-

chr7:155792577

chr16:15715273

intergenic

intron

translocation

40235

medium

|Myosin_tail(8%)

ENSG00000133392.18

ENST00000300036.6

upstream

downstream

duplicates(3),mismatches(1)

GGAGAGAGAGAGAGAGAGGCCA|GAGAGAAACAGGCGGCCACCAAGTCGCTGAAGCAGAAAGACAAGAAGCTGAAGGAAATCTTGCTGCAGGTGGAGGACGAGCGCAAGATGGCCGAGCAGTACAAGGAGCAG___GCAGAGAAAGGCAATGCCAGGGTCAAGCAGCTCAAGAGGCAGCTGGAGGAGGC

LH00995:41:23WJ53LT4:1:1246:30124:8202,LH00995:41:23WJ53LT4:1:1481:16428:28955,LH00995:41:23WJ53LT4:2:2133:15724:2541,LH00995:41:23WJ53LT4:6:1126:31200:3508,LH00995:41:23WJ53LT4:7:1132:48982:1238,LH00995:41:23WJ53LT4:7:1168:9373:17436

DIAPH2

MYCLP1(5846),DNAJA1P3(72148)

+/+

./-

chrX:97429745

chrX:107279502

CDS/splice-site

intergenic

inversion

873

medium

out-of-frame

DRF_Autoregulatory_Domain(100%),Diaphanous_FH3_Domain(100%),Diaphanous_GTPase-binding_Domain(100%),Formin_Homology_2_Domain(100%)|

ENSG00000147202.18

ENST00000324765.13

downstream

duplicates(10),mismappers(1)

AAAGTTAGAACGCCAGAAGAAAAAGAAACAACTCATTGATATAAACAAAG___AGGGTGATGAGACTGGTGTGATGGATAATCTTCTAGAAGCCCTACAATCAGGTGCAGCATTCAGAGACCGTCGAAAGCGGATTCCAAGGAATCCAG|ACAGACCCTGCTTATTTCTGTGAACCAACCAGTGATCTCTTGCTGTGGCTCAGAAGAAAtAAGAGGTATAGGTAATGTAAAA

KLERQKKKKQLIDINKEGDETGVMDNLLEALQSGAAFRDRRKRIPRNP|drpclfl*

LH00995:41:23WJ53LT4:1:1183:8014:22425,LH00995:41:23WJ53LT4:1:1243:22754:15082,LH00995:41:23WJ53LT4:2:1278:33991:11761,LH00995:41:23WJ53LT4:2:1278:33999:11775,LH00995:41:23WJ53LT4:2:1320:17099:21850,LH00995:41:23WJ53LT4:3:1281:45535:24218,LH00995:41:23WJ53LT4:3:1375:27009:2415,LH00995:41:23WJ53LT4:3:1479:7666:17198,LH00995:41:23WJ53LT4:4:1467:25043:25269,LH00995:41:23WJ53LT4:4:2152:20052:22088,LH00995:41:23WJ53LT4:5:1280:4244:2443,LH00995:41:23WJ53LT4:5:1358:9559:1364,LH00995:41:23WJ53LT4:6:1497:9406:10991

LATS2

-/-

chr13:20988344

chr13:20988349

CDS

duplication/ITD

1064

1294

low

in-frame

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

ENSG00000150457.9

ENST00000382592.5

upstream

downstream

duplicates(150),mismappers(1)

GCACATCTTGCACCCGGTGAAGAGCGTGCGTGTGCTGAGGCCGGAGCCGCAGACGGCTGTGGGGCCCTCGCACCCCGCCTGGGTGCCCGCGCCTGCCCCGGCCCCCGCCCCCGCCCCCGCCCC|CGCCCCGGCTGCGGAGGGCTTGGACGCCAAGGAGGAGCATGCCCTGGCGCTGGGCGGCGCAGGCGCCTTCCCGCTGGACGTGGAGTACGGAGGCCCAGACCGGAGGTGCCCGCCTCCGCCCTACCCGAAGCACCTGCTGCTGCG

HILHPVKSVRVLRPEPQTAVGPSHPAWVPAPAPAPAPAPAp|APAAEGLDAKEEHALALGGAGAFPLDVEYGGPDRRCPPPPYPKHLLL

LH00995:41:23WJ53LT4:1:1119:23280:21710,LH00995:41:23WJ53LT4:1:1179:41029:8735,LH00995:41:23WJ53LT4:1:1210:43254:15951,LH00995:41:23WJ53LT4:1:1236:50867:28436,LH00995:41:23WJ53LT4:1:1393:25278:2752,LH00995:41:23WJ53LT4:1:1418:50495:25325,LH00995:41:23WJ53LT4:1:1421:23701:29389,LH00995:41:23WJ53LT4:1:1452:6736:27890,LH00995:41:23WJ53LT4:1:2114:9567:21696,LH00995:41:23WJ53LT4:1:2130:32753:20491,LH00995:41:23WJ53LT4:1:2189:8961:23924,LH00995:41:23WJ53LT4:1:2376:21476:11271,LH00995:41:23WJ53LT4:1:2426:46725:15489,LH00995:41:23WJ53LT4:1:2469:38295:19384,LH00995:41:23WJ53LT4:2:1157:50309:6339,LH00995:41:23WJ53LT4:2:1224:45851:1645,LH00995:41:23WJ53LT4:2:1353:40237:13891,LH00995:41:23WJ53LT4:2:1361:42575:2611,LH00995:41:23WJ53LT4:2:1421:37826:20169,LH00995:41:23WJ53LT4:2:1443:44702:23392,LH00995:41:23WJ53LT4:2:2158:13216:1168,LH00995:41:23WJ53LT4:2:2179:17989:26278,LH00995:41:23WJ53LT4:2:2183:1178:2738,LH00995:41:23WJ53LT4:2:2225:44395:22747,LH00995:41:23WJ53LT4:2:2381:32939:2822,LH00995:41:23WJ53LT4:2:2447:38594:24274,LH00995:41:23WJ53LT4:2:2491:12221:8805,LH00995:41:23WJ53LT4:3:1126:24073:24961,LH00995:41:23WJ53LT4:3:1126:24089:24961,LH00995:41:23WJ53LT4:3:1137:49338:7712,LH00995:41:23WJ53LT4:3:1282:20141:26951,LH00995:41:23WJ53LT4:3:1291:29032:12112,LH00995:41:23WJ53LT4:3:1315:19251:27960,LH00995:41:23WJ53LT4:3:1361:2027:14662,LH00995:41:23WJ53LT4:3:1418:39411:17366,LH00995:41:23WJ53LT4:3:1422:37607:4994,LH00995:41:23WJ53LT4:3:1425:20448:13331,LH00995:41:23WJ53LT4:3:1454:20214:26292,LH00995:41:23WJ53LT4:3:2115:20683:1911,LH00995:41:23WJ53LT4:3:2156:23086:21010,LH00995:41:23WJ53LT4:3:2156:23102:21010,LH00995:41:23WJ53LT4:3:2189:2747:27455,LH00995:41:23WJ53LT4:3:2235:18701:5260,LH00995:41:23WJ53LT4:3:2235:18709:5274,LH00995:41:23WJ53LT4:3:2273:2901:11803,LH00995:41:23WJ53LT4:3:2292:48852:10542,LH00995:41:23WJ53LT4:3:2331:6364:6339,LH00995:41:23WJ53LT4:3:2350:45163:6030,LH00995:41:23WJ53LT4:3:2498:10231:6058,LH00995:41:23WJ53LT4:4:1131:38352:3116,LH00995:41:23WJ53LT4:4:1131:39994:13779,LH00995:41:23WJ53LT4:4:1171:32179:28464,LH00995:41:23WJ53LT4:4:1270:6064:28772,LH00995:41:23WJ53LT4:4:1364:41903:5652,LH00995:41:23WJ53LT4:4:1411:16864:8553,LH00995:41:23WJ53LT4:4:1429:26508:28842,LH00995:41:23WJ53LT4:4:1464:23903:8693,LH00995:41:23WJ53LT4:4:2162:27924:28856,LH00995:41:23WJ53LT4:4:2203:35099:9449,LH00995:41:23WJ53LT4:4:2222:36992:18838,LH00995:41:23WJ53LT4:4:2240:6930:3396,LH00995:41:23WJ53LT4:4:2310:11242:15321,LH00995:41:23WJ53LT4:4:2453:21249:13793,LH00995:41:23WJ53LT4:5:1211:36103:16988,LH00995:41:23WJ53LT4:5:1268:23523:22383,LH00995:41:23WJ53LT4:5:1335:2982:25592,LH00995:41:23WJ53LT4:5:1349:38853:23602,LH00995:41:23WJ53LT4:5:1354:50098:19650,LH00995:41:23WJ53LT4:5:1388:22341:19524,LH00995:41:23WJ53LT4:5:2268:40592:8258,LH00995:41:23WJ53LT4:5:2367:6307:6325,LH00995:41:23WJ53LT4:5:2369:7100:5064,LH00995:41:23WJ53LT4:5:2384:4236:2177,LH00995:41:23WJ53LT4:5:2409:15594:18403,LH00995:41:23WJ53LT4:5:2409:16290:21206,LH00995:41:23WJ53LT4:5:2444:39201:17226,LH00995:41:23WJ53LT4:5:2457:45956:26152,LH00995:41:23WJ53LT4:6:1216:37623:18641,LH00995:41:23WJ53LT4:6:1217:8783:13331,LH00995:41:23WJ53LT4:6:1217:8799:13331,LH00995:41:23WJ53LT4:6:1262:20521:12868,LH00995:41:23WJ53LT4:6:1263:38983:25704,LH00995:41:23WJ53LT4:6:1270:7456:19945,LH00995:41:23WJ53LT4:6:1295:19211:3536,LH00995:41:23WJ53LT4:6:1443:4382:28548,LH00995:41:23WJ53LT4:6:1479:15109:17338,LH00995:41:23WJ53LT4:6:1491:12496:13373,LH00995:41:23WJ53LT4:6:2107:45446:4643,LH00995:41:23WJ53LT4:6:2114:42445:6955,LH00995:41:23WJ53LT4:6:2119:20408:27049,LH00995:41:23WJ53LT4:6:2182:27163:4251,LH00995:41:23WJ53LT4:6:2187:25213:18529,LH00995:41:23WJ53LT4:6:2194:8143:25564,LH00995:41:23WJ53LT4:6:2204:30286:26334,LH00995:41:23WJ53LT4:6:2224:1227:21374,LH00995:41:23WJ53LT4:6:2287:10045:13779,LH00995:41:23WJ53LT4:6:2343:29833:9463,LH00995:41:23WJ53LT4:6:2383:18515:15979,LH00995:41:23WJ53LT4:6:2383:18531:15979,LH00995:41:23WJ53LT4:6:2449:6582:29473,LH00995:41:23WJ53LT4:6:2451:44306:24751,LH00995:41:23WJ53LT4:7:1142:50381:4559,LH00995:41:23WJ53LT4:7:1153:12739:20071,LH00995:41:23WJ53LT4:1:1101:10902:5204,LH00995:41:23WJ53LT4:1:1185:35488:13737,LH00995:41:23WJ53LT4:1:1188:9098:4405,LH00995:41:23WJ53LT4:1:1193:39039:25606,LH00995:41:23WJ53LT4:1:1238:32122:7600,LH00995:41:23WJ53LT4:1:1248:15206:8931,LH00995:41:23WJ53LT4:1:1248:15214:8945,LH00995:41:23WJ53LT4:1:1257:27228:22831,LH00995:41:23WJ53LT4:1:1407:16072:5442,LH00995:41:23WJ53LT4:1:1450:37963:8973,LH00995:41:23WJ53LT4:1:2183:50300:19552,LH00995:41:23WJ53LT4:1:2216:41895:20603,LH00995:41:23WJ53LT4:1:2343:33635:10136,LH00995:41:23WJ53LT4:1:2364:50228:5834,LH00995:41:23WJ53LT4:1:2375:44338:17380,LH00995:41:23WJ53LT4:1:2465:4212:10262,LH00995:41:23WJ53LT4:1:2470:23587:10668,LH00995:41:23WJ53LT4:1:2492:34574:13135,LH00995:41:23WJ53LT4:2:1108:47631:18655,LH00995:41:23WJ53LT4:2:1121:23417:7572,LH00995:41:23WJ53LT4:2:1145:38303:9337,LH00995:41:23WJ53LT4:2:1176:32333:9505,LH00995:41:23WJ53LT4:2:1189:38408:25073,LH00995:41:23WJ53LT4:2:1279:25941:27890,LH00995:41:23WJ53LT4:2:1279:25958:27890,LH00995:41:23WJ53LT4:2:1497:33821:22088,LH00995:41:23WJ53LT4:2:2183:22220:22032,LH00995:41:23WJ53LT4:2:2183:34161:15475,LH00995:41:23WJ53LT4:2:2227:11396:8917,LH00995:41:23WJ53LT4:2:2268:49694:25788,LH00995:41:23WJ53LT4:2:2346:23070:8034,LH00995:41:23WJ53LT4:2:2382:51870:19272,LH00995:41:23WJ53LT4:2:2415:5296:13877,LH00995:41:23WJ53LT4:2:2463:50907:14130,LH00995:41:23WJ53LT4:2:2463:50915:14116,LH00995:41:23WJ53LT4:2:2491:44621:21318,LH00995:41:23WJ53LT4:3:1124:35973:22285,LH00995:41:23WJ53LT4:3:1152:17301:5862,LH00995:41:23WJ53LT4:3:1166:2958:24401,LH00995:41:23WJ53LT4:3:1196:8791:17268,LH00995:41:23WJ53LT4:3:1226:41070:1238,LH00995:41:23WJ53LT4:3:1262:20748:5022,LH00995:41:23WJ53LT4:3:1461:41013:1448,LH00995:41:23WJ53LT4:3:2139:18159:14914,LH00995:41:23WJ53LT4:3:2219:33344:15601,LH00995:41:23WJ53LT4:3:2224:10231:3844,LH00995:41:23WJ53LT4:3:2460:15497:12742,LH00995:41:23WJ53LT4:4:1109:47946:22705,LH00995:41:23WJ53LT4:4:1147:51287:1617,LH00995:41:23WJ53LT4:4:1190:39905:14746,LH00995:41:23WJ53LT4:4:1222:21791:1673,LH00995:41:23WJ53LT4:4:1260:46013:22103,LH00995:41:23WJ53LT4:4:1281:23741:12364,LH00995:41:23WJ53LT4:4:1356:4349:14031,LH00995:41:23WJ53LT4:4:1439:28441:15797,LH00995:41:23WJ53LT4:4:1439:28457:15797,LH00995:41:23WJ53LT4:4:1461:13264:5288,LH00995:41:23WJ53LT4:4:1470:46854:16021,LH00995:41:23WJ53LT4:4:2254:21581:3186,LH00995:41:23WJ53LT4:4:2302:49475:26614,LH00995:41:23WJ53LT4:4:2312:3581:15138,LH00995:41:23WJ53LT4:5:1216:24793:21108,LH00995:41:23WJ53LT4:5:1260:20764:13737,LH00995:41:23WJ53LT4:5:1310:48205:28506,LH00995:41:23WJ53LT4:5:1371:16598:27820,LH00995:41:23WJ53LT4:5:1429:26670:25451,LH00995:41:23WJ53LT4:5:2131:15384:4643,LH00995:41:23WJ53LT4:5:2149:3718:17058,LH00995:41:23WJ53LT4:5:2171:3864:6605,LH00995:41:23WJ53LT4:5:2334:33360:13247,LH00995:41:23WJ53LT4:5:2358:41458:7600,LH00995:41:23WJ53LT4:5:2465:22827:11061,LH00995:41:23WJ53LT4:5:2465:22835:11075,LH00995:41:23WJ53LT4:6:1145:18758:25788,LH00995:41:23WJ53LT4:6:1160:43853:22789,LH00995:41:23WJ53LT4:6:1175:2052:6549,LH00995:41:23WJ53LT4:6:1191:22665:22803,LH00995:41:23WJ53LT4:6:1239:2925:29025,LH00995:41:23WJ53LT4:6:1282:45495:22215,LH00995:41:23WJ53LT4:6:1331:7108:3312,LH00995:41:23WJ53LT4:6:1358:37405:28969,LH00995:41:23WJ53LT4:6:1393:48545:22425,LH00995:41:23WJ53LT4:6:2102:31693:24933,LH00995:41:23WJ53LT4:6:2193:5482:13891,LH00995:41:23WJ53LT4:6:2213:32778:29305,LH00995:41:23WJ53LT4:6:2237:39589:24765,LH00995:41:23WJ53LT4:6:2251:51797:11355,LH00995:41:23WJ53LT4:6:2264:36167:26376,LH00995:41:23WJ53LT4:6:2269:16428:18810,LH00995:41:23WJ53LT4:6:2369:48877:2794

DES

FP671120.4

+/+

chr2:219426085

chr21:8216919

3'UTR

intron

translocation

52559

10855

low

stop-codon

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

ENSG00000175084.12

ENSG00000278996.1

ENST00000373960.4

downstream

upstream

duplicates(9)

CAGTGAGGCCACACAGCAGCAGCATGAAGTGCTCTAAAGACAGAGACCCTCTGCCACCAGAGACCGTCCTCACCCCTGTCCTCACTGCTCCCTGAAGCCAGCCTTCTTCCATCCCAGGACACCACACCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:41:23WJ53LT4:1:1209:38643:16960,LH00995:41:23WJ53LT4:1:2311:3120:14536,LH00995:41:23WJ53LT4:1:2311:3467:15643,LH00995:41:23WJ53LT4:1:2410:20715:23097,LH00995:41:23WJ53LT4:2:1153:46466:16974,LH00995:41:23WJ53LT4:2:1170:2108:27245,LH00995:41:23WJ53LT4:2:1284:23757:13681,LH00995:41:23WJ53LT4:2:1377:37348:3032,LH00995:41:23WJ53LT4:2:1413:33562:20939,LH00995:41:23WJ53LT4:2:2224:50842:2079,LH00995:41:23WJ53LT4:2:2361:39565:28618,LH00995:41:23WJ53LT4:3:1104:32284:23322,LH00995:41:23WJ53LT4:3:1474:5328:27525,LH00995:41:23WJ53LT4:3:2207:20643:23420,LH00995:41:23WJ53LT4:3:2369:8613:10598,LH00995:41:23WJ53LT4:4:1273:48326:28912,LH00995:41:23WJ53LT4:4:1363:12464:25676,LH00995:41:23WJ53LT4:4:2197:10174:26138,LH00995:41:23WJ53LT4:4:2449:38619:28884,LH00995:41:23WJ53LT4:5:1450:15433:9576,LH00995:41:23WJ53LT4:5:2328:2149:16554,LH00995:41:23WJ53LT4:6:1410:25901:15208,LH00995:41:23WJ53LT4:6:1412:41215:26376,LH00995:41:23WJ53LT4:6:2193:33336:12588,LH00995:41:23WJ53LT4:6:2278:45374:3004,LH00995:41:23WJ53LT4:6:2291:52056:27665,LH00995:41:23WJ53LT4:6:2335:16509:17240,LH00995:41:23WJ53LT4:7:1196:17067:1476

RUNDC1

+/+

chr17:42981074

chr17:42981069

CDS/splice-site

CDS

duplication/ITD

354

low

in-frame

|RUN_domain(100%)

ENSG00000198863.7

ENST00000361677.5

downstream

upstream

duplicates(16)

GGGCCCGGCGACCCCGCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCAcGGTTGCGGGGCGAGGACCAG|GgCttG___AGTGAGCAGGAAAAGCAAGAGCGTCTGGAAACCCAAAGGGAGAAGCAGAAAGAACTGATACTGCAGCTCAAGACCCAGCTAGATGACCTGGAAACGTTTGCC

GPGDPASDEGDGLPGDRPrLRGEDQ|glSEQEKQERLETQREKQKELILQLKTQLDDLETF

LH00995:41:23WJ53LT4:1:1201:28377:24316,LH00995:41:23WJ53LT4:1:1236:22600:27651,LH00995:41:23WJ53LT4:1:1313:29064:16287,LH00995:41:23WJ53LT4:1:2280:22196:25830,LH00995:41:23WJ53LT4:1:2328:10514:12770,LH00995:41:23WJ53LT4:2:1198:15780:9730,LH00995:41:23WJ53LT4:2:1434:35035:24443,LH00995:41:23WJ53LT4:2:2363:22714:14172,LH00995:41:23WJ53LT4:3:1127:28482:13793,LH00995:41:23WJ53LT4:3:1136:22058:28142,LH00995:41:23WJ53LT4:3:1247:1154:23546,LH00995:41:23WJ53LT4:3:1323:37203:7880,LH00995:41:23WJ53LT4:3:2347:22301:21584,LH00995:41:23WJ53LT4:3:2383:6598:22859,LH00995:41:23WJ53LT4:3:2431:8362:29669,LH00995:41:23WJ53LT4:4:1110:10603:9057,LH00995:41:23WJ53LT4:4:2152:32875:21682,LH00995:41:23WJ53LT4:4:2461:11371:8735,LH00995:41:23WJ53LT4:4:2467:7116:21038,LH00995:41:23WJ53LT4:4:2496:14421:13989,LH00995:41:23WJ53LT4:5:1126:31224:3382,LH00995:41:23WJ53LT4:5:1249:7084:10865,LH00995:41:23WJ53LT4:5:1452:7148:26026,LH00995:41:23WJ53LT4:6:1254:43408:22691,LH00995:41:23WJ53LT4:6:1431:12043:22313,LH00995:41:23WJ53LT4:6:1432:50940:17605,LH00995:41:23WJ53LT4:6:2186:1680:25297,LH00995:41:23WJ53LT4:6:2410:49888:15699,LH00995:41:23WJ53LT4:6:2410:49896:15713

TCF25

+/+

chr16:89886052

chr16:89885973

CDS

duplication/ITD

124

low

|Transcriptional_repressor_TCF25(100%)

ENSG00000141002.20

ENST00000565404.1

downstream

upstream

duplicates(12)

AAGAGGTTGTTTTGGGGCTTTTAGGAAAACGGACTAGAAGATATCGATCGCATCCTAGAGAGGATTGAGGACAGCACTGGGTTGAACCGTCCCGGCCCAGCTCCCCTGAGCTCCAGGAAGCACGTTCTCTACGTGGAGCACAGGTGTGGCCCCCGCCCTTCTCTGtGGCTGCCCTTCTCTGCGGCTGCCCTTCTCTGCGGCTGCCCTTCTCTGCGGCTGCCCTTCTCTG|CggCtGCCCTTCTCTGCGGCTGCCCTTCTCTGtGGCTGCC

LH00995:41:23WJ53LT4:2:2203:15198:22032,LH00995:41:23WJ53LT4:3:1123:48189:6507,LH00995:41:23WJ53LT4:3:2132:5223:8258,LH00995:41:23WJ53LT4:3:2197:41110:20813,LH00995:41:23WJ53LT4:3:2197:41126:20813,LH00995:41:23WJ53LT4:3:2248:40981:20505,LH00995:41:23WJ53LT4:3:2395:20278:22929,LH00995:41:23WJ53LT4:3:2395:20278:22929,LH00995:41:23WJ53LT4:3:2483:29153:17142,LH00995:41:23WJ53LT4:3:2483:29153:17142,LH00995:41:23WJ53LT4:4:1126:40536:17324,LH00995:41:23WJ53LT4:4:1126:40536:17324,LH00995:41:23WJ53LT4:4:1126:40536:17324,LH00995:41:23WJ53LT4:4:1319:23377:11089,LH00995:41:23WJ53LT4:4:1428:51085:20379,LH00995:41:23WJ53LT4:4:2382:38991:21458,LH00995:41:23WJ53LT4:5:1191:11331:16400,LH00995:41:23WJ53LT4:5:1257:1591:13065,LH00995:41:23WJ53LT4:5:1322:26411:23966,LH00995:41:23WJ53LT4:6:2201:32446:5442,LH00995:41:23WJ53LT4:6:2420:29655:27147,LH00995:41:23WJ53LT4:7:1160:24760:23966,LH00995:41:23WJ53LT4:7:1160:24760:23966

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

743

1346

low

out-of-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(21)

GTGACCAACCACATAACTCGAGACAGGGACAGCGGGAGGCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCT

VTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgtaps

LH00995:41:23WJ53LT4:3:1368:33125:5862,LH00995:41:23WJ53LT4:3:2248:47032:14928,LH00995:41:23WJ53LT4:3:2464:32850:1603,LH00995:41:23WJ53LT4:4:1269:10862:24246,LH00995:41:23WJ53LT4:4:1269:10878:24246,LH00995:41:23WJ53LT4:5:1389:10813:21976,LH00995:41:23WJ53LT4:6:1304:46442:25760,LH00995:41:23WJ53LT4:7:1171:33311:10416,LH00995:41:23WJ53LT4:7:1188:45171:2485,LH00995:41:23WJ53LT4:1:1191:14098:8637,LH00995:41:23WJ53LT4:1:1210:28644:3060,LH00995:41:23WJ53LT4:1:1374:32567:4195,LH00995:41:23WJ53LT4:1:2126:2294:17282,LH00995:41:23WJ53LT4:1:2215:28595:17633,LH00995:41:23WJ53LT4:1:2290:24404:11355,LH00995:41:23WJ53LT4:1:2389:2165:25830,LH00995:41:23WJ53LT4:1:2438:49370:7684,LH00995:41:23WJ53LT4:2:1239:25990:11019,LH00995:41:23WJ53LT4:2:1245:42008:25479,LH00995:41:23WJ53LT4:2:1326:43861:28548,LH00995:41:23WJ53LT4:2:2216:11517:2233,LH00995:41:23WJ53LT4:2:2389:10441:2499,LH00995:41:23WJ53LT4:3:2214:43400:7263,LH00995:41:23WJ53LT4:3:2262:32980:5778,LH00995:41:23WJ53LT4:4:1353:46086:21584,LH00995:41:23WJ53LT4:4:1497:36183:23378,LH00995:41:23WJ53LT4:4:2477:21160:4083,LH00995:41:23WJ53LT4:5:2163:11379:8132,LH00995:41:23WJ53LT4:6:1233:30868:6016,LH00995:41:23WJ53LT4:6:2156:16549:22831

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

1744

3911

low

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(22)

ACTTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAAAGTGAAACGATCTGTGAAAGATGCTGCCAAGAAGGGCCAGA

LMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDAAKKGQ

LH00995:41:23WJ53LT4:1:2221:30512:11481,LH00995:41:23WJ53LT4:1:2496:36944:1378,LH00995:41:23WJ53LT4:3:1122:43570:11509,LH00995:41:23WJ53LT4:3:2210:40382:9800,LH00995:41:23WJ53LT4:3:2210:40390:9786,LH00995:41:23WJ53LT4:3:2320:39541:9519,LH00995:41:23WJ53LT4:4:1429:19850:14620,LH00995:41:23WJ53LT4:4:2353:24048:17100,LH00995:41:23WJ53LT4:5:1337:37850:17436,LH00995:41:23WJ53LT4:5:1412:29679:8076,LH00995:41:23WJ53LT4:5:2193:16266:19034,LH00995:41:23WJ53LT4:5:2472:6291:10612,LH00995:41:23WJ53LT4:6:1385:48246:28156,LH00995:41:23WJ53LT4:7:1183:30529:16610,LH00995:41:23WJ53LT4:1:1191:46895:11243,LH00995:41:23WJ53LT4:1:2130:51223:21822,LH00995:41:23WJ53LT4:1:2383:17868:8833,LH00995:41:23WJ53LT4:1:2398:31645:22355,LH00995:41:23WJ53LT4:2:1183:5110:5540,LH00995:41:23WJ53LT4:2:2222:16743:15825,LH00995:41:23WJ53LT4:3:1136:44589:27371,LH00995:41:23WJ53LT4:3:1261:5951:10556,LH00995:41:23WJ53LT4:3:2332:17949:14578,LH00995:41:23WJ53LT4:4:1469:24518:1266,LH00995:41:23WJ53LT4:4:2280:45535:15895,LH00995:41:23WJ53LT4:4:2494:47008:23966,LH00995:41:23WJ53LT4:6:1205:27511:12336,LH00995:41:23WJ53LT4:6:1205:27519:12322,LH00995:41:23WJ53LT4:6:1365:44427:9071,LH00995:41:23WJ53LT4:6:2259:31418:3298,LH00995:41:23WJ53LT4:7:1178:9244:10430

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

1722

210

low

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(25),mismappers(2)

CGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCA

LH00995:41:23WJ53LT4:1:1388:49726:21556,LH00995:41:23WJ53LT4:1:1450:12431:13373,LH00995:41:23WJ53LT4:1:1461:34517:28730,LH00995:41:23WJ53LT4:1:2114:44921:14858,LH00995:41:23WJ53LT4:1:2197:31540:21108,LH00995:41:23WJ53LT4:1:2197:31556:21108,LH00995:41:23WJ53LT4:1:2312:3726:26993,LH00995:41:23WJ53LT4:1:2430:17220:18081,LH00995:41:23WJ53LT4:1:2459:21710:12266,LH00995:41:23WJ53LT4:2:1162:11655:10486,LH00995:41:23WJ53LT4:2:1476:51045:20617,LH00995:41:23WJ53LT4:3:1150:6323:20673,LH00995:41:23WJ53LT4:3:1262:34735:27455,LH00995:41:23WJ53LT4:3:1305:49977:13611,LH00995:41:23WJ53LT4:3:1475:49030:20968,LH00995:41:23WJ53LT4:3:2396:10902:24064,LH00995:41:23WJ53LT4:4:1374:11307:22046,LH00995:41:23WJ53LT4:4:2151:19858:11299,LH00995:41:23WJ53LT4:4:2239:13839:29459,LH00995:41:23WJ53LT4:5:1447:51093:27371,LH00995:41:23WJ53LT4:6:2132:36636:10206,LH00995:41:23WJ53LT4:6:2195:3734:3074,LH00995:41:23WJ53LT4:6:2305:51393:3788,LH00995:41:23WJ53LT4:6:2338:49047:27806,LH00995:41:23WJ53LT4:6:2422:1906:12266,LH00995:41:23WJ53LT4:1:2312:29121:28072,LH00995:41:23WJ53LT4:2:1228:42235:17941,LH00995:41:23WJ53LT4:2:1332:10562:19328,LH00995:41:23WJ53LT4:3:1482:2181:15461,LH00995:41:23WJ53LT4:3:2487:36467:20281,LH00995:41:23WJ53LT4:3:2487:36475:20267,LH00995:41:23WJ53LT4:4:1170:48229:23840,LH00995:41:23WJ53LT4:4:1321:25852:7362,LH00995:41:23WJ53LT4:5:2178:51393:13737,LH00995:41:23WJ53LT4:6:2108:14065:5554

IGH@-ext

FP236383.3

-/-

+/+

chr14:105707156

chr21:8399952

exon

intron

translocation

13919

6882

low

IGH.g@-ext

ENSG00000280441.3

IGH.t@-ext

upstream

duplicates(2),mismappers(1)

GCGCGTGGCAGCCGAGGACTGGAAGAAGGGGGACACCTTCTCCTGCATGGTGGGCCACGAGGCCCTGCCGCTGGCCTTCACACAGAAGACCATCGACCGCTTGGCGGGTAAACCCACCCATGTCAATGTGTCTGTTGTCATGGCGGAGGTGGACGGCACCTGCTACTGAGCCGCCCGCCTG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCCG

LH00995:41:23WJ53LT4:1:1245:1000:5568,LH00995:41:23WJ53LT4:1:1280:17625:29319,LH00995:41:23WJ53LT4:1:2151:32632:25325,LH00995:41:23WJ53LT4:2:1474:48860:27147,LH00995:41:23WJ53LT4:2:2154:13952:24919,LH00995:41:23WJ53LT4:3:2483:38287:5722,LH00995:41:23WJ53LT4:5:2112:7334:23490,LH00995:41:23WJ53LT4:5:2188:24971:27918,LH00995:41:23WJ53LT4:5:2413:36523:19342,LH00995:41:23WJ53LT4:5:2468:6218:19006,LH00995:41:23WJ53LT4:6:1296:44702:10192

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

354

2132

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(9)

GCTGAAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCACGATATCAACTATTTGGCTTTGTCAGG...___AAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCC

LKLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvswpryqlfgfv

LH00995:41:23WJ53LT4:1:1248:13677:29571,LH00995:41:23WJ53LT4:1:1372:3354:17717,LH00995:41:23WJ53LT4:2:1383:21363:27273,LH00995:41:23WJ53LT4:2:1398:47825:27707,LH00995:41:23WJ53LT4:3:1329:52096:10304,LH00995:41:23WJ53LT4:3:2411:44637:21010,LH00995:41:23WJ53LT4:3:2411:44646:20996,LH00995:41:23WJ53LT4:3:2438:24356:23882,LH00995:41:23WJ53LT4:4:1359:7189:12420,LH00995:41:23WJ53LT4:4:1408:12180:2121,LH00995:41:23WJ53LT4:4:2204:1599:19552,LH00995:41:23WJ53LT4:5:2245:5288:17450,LH00995:41:23WJ53LT4:6:1388:23385:5582,LH00995:41:23WJ53LT4:4:1264:3144:19006,LH00995:41:23WJ53LT4:5:1439:46385:3438

SPATA13

+/+

chr13:24017701

chr13:24222819

exon/splice-site

5'UTR/splice-site

deletion/read-through

611

low

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

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

duplicates(2)

TGTCTATCTGCATTTTTTGAGCTGCAGAGTGATGGGAGTCATATTCGCTGCCTGTGCAGCACCACAGGCCTGATGAAAATGAAATGGCAACACCGTGCAGATGGCAAAGCGTAGGCCTCACAAACATCCTGGCCGTGAAG___AGCTTGTCTTCAAGAGTAGCTGGTGCAGAAACTCG|CCCGTGGCCACCCAGGAGCCCGATGTGCAAGGCAGGTGTGAGTGCCAGGACGGCATTCCTGGAGATGAAGGCCTGGAGCTGCGGTCTGCGGACTCGGCAGTGCCCGTGGCCATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGACCTGAAAGACGCCAAGATGGTGACCTCCCTTGCGTGTGGAAATGGAGTCTGTGGCTGCAGCCCTGGTGGCGACACGGACACCCAGGAAGCCAA

LH00995:41:23WJ53LT4:4:1171:45034:21500,LH00995:41:23WJ53LT4:1:1106:2456:29277,LH00995:41:23WJ53LT4:1:1143:12496:26404,LH00995:41:23WJ53LT4:1:2494:9276:5778,LH00995:41:23WJ53LT4:3:2354:39970:15699,LH00995:41:23WJ53LT4:4:2468:50147:24050,LH00995:41:23WJ53LT4:6:1298:2391:15517

SPATA13

+/+

chr13:23983933

chr13:24222819

exon/splice-site

5'UTR/splice-site

deletion/read-through

611

low

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

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

duplicates(1)

CACAAACATCCTGGCCGTGAAG|CCCGTGGCCACCCAGGAGCCCGATGTGCAAGGCAGGTGTGAGTGCCAGGACGGCATTCCTGGAGATGAAGGCCTGGAGCTGCGGTCTGCGGACTCGGCAGTGCCCGTGGCCATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGACCTGAAAGACGCCAAGATGGTGACCTCCCTTGCGTGTGG

LH00995:41:23WJ53LT4:4:2380:16258:24373,LH00995:41:23WJ53LT4:6:1213:11339:15909

DNAJC25

GNG10

+/+

chr9:111631743

chr9:111666815

CDS/splice-site

deletion/read-through

496

1805

low

in-frame

DnaJ_domain(87%)|GGL_domain(67%)

ENSG00000059769.20

ENSG00000242616.4

ENST00000313525.4

ENST00000374293.5

downstream

upstream

duplicates(6)

GCCGCAGAGCGCCGAGGAGGCTTTCCTGCTGGTGGCAACCGCCTACGAGACACTCAAG|GTCTCTCAGGCAGCTGCAGAGCTTCAACAGTACTGTATGCAGAATGCCTGCAAGGATGCCCTGCTGGTGGGTGTTCCAGCTGGAAGTAACCCCTTCCGGGAGCCTAGATCCTGT

PQSAEEAFLLVATAYETLK|VSQAAAELQQYCMQNACKDALLVGVPAGSNPFREPRS

LH00995:41:23WJ53LT4:2:1487:11428:29263,LH00995:41:23WJ53LT4:2:2438:29137:2513,LH00995:41:23WJ53LT4:2:2450:41660:10725,LH00995:41:23WJ53LT4:3:1371:23757:24835,LH00995:41:23WJ53LT4:3:2334:35666:19762,LH00995:41:23WJ53LT4:4:1261:24340:25760,LH00995:41:23WJ53LT4:5:1125:19777:18445,LH00995:41:23WJ53LT4:5:1151:35577:9940,LH00995:41:23WJ53LT4:5:1315:3856:29039,LH00995:41:23WJ53LT4:5:2255:43586:12995,LH00995:41:23WJ53LT4:6:2159:27001:27623

GTF2A1L

LHCGR(11382),STON1-GTF2A1L(1842)

+/+

./+

chr2:48671680

chr2:48767112

CDS/splice-site

intergenic

deletion/read-through

218

low

Transcription_factor_IIA__alpha/beta_subunit(92%)|

ENSG00000242441.8

ENST00000508440.1

downstream

upstream

duplicates(11),mismappers(4)

GGGGAGATCTGAAGGTACCTGAAGAAGAAGCTGACAGTATTTCAAATGAGGATTCAGCCACAAACAGTAGTGATAATGAAGACCCTCAAGTAAACATTGTAGAAGAG___GACCCTTTAAATTCTGGAGATGATGTTAGTGAACAGGATGTGCCAGACCTGTTTGACACGGATAATGTaATTGTCTGTCAGTATGATAAG|GTCTGCTGGAGTTTGCTGGAGGTCCACTCCAGACCCTGTTTGCCTGAGTATGACCAGTGGAGGCTGCTGCCCAACAAAGATTGCTGCCTGTTCCTACCTCTGGAAGCTTCGTCCCAGAGGGGCACCCGCCAGATGCCAGC

LH00995:41:23WJ53LT4:1:1317:23846:12126,LH00995:41:23WJ53LT4:2:2241:31629:5092,LH00995:41:23WJ53LT4:2:2335:7933:13961,LH00995:41:23WJ53LT4:3:2351:40002:10458,LH00995:41:23WJ53LT4:3:2371:1825:21010,LH00995:41:23WJ53LT4:4:1145:46603:2415,LH00995:41:23WJ53LT4:4:2122:27891:9996,LH00995:41:23WJ53LT4:4:2204:31119:13317,LH00995:41:23WJ53LT4:4:2362:31693:5176,LH00995:41:23WJ53LT4:5:2218:2569:20421,LH00995:41:23WJ53LT4:6:1188:24404:6086,LH00995:41:23WJ53LT4:6:2130:5085:8889,LH00995:41:23WJ53LT4:6:2235:44095:11888,LH00995:41:23WJ53LT4:2:1196:29501:14158,LH00995:41:23WJ53LT4:3:1348:32365:10346,LH00995:41:23WJ53LT4:3:1348:32373:10332,LH00995:41:23WJ53LT4:5:2421:21314:6367,LH00995:41:23WJ53LT4:5:2421:21322:6381,LH00995:41:23WJ53LT4:5:2421:21330:6367

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

150

low

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

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

duplicates(7),mismappers(1)

GACGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTGGGAGCCCCCAGCCACAGC

LH00995:41:23WJ53LT4:1:2207:13370:16876,LH00995:41:23WJ53LT4:2:2382:22277:8090,LH00995:41:23WJ53LT4:2:2382:22293:8090,LH00995:41:23WJ53LT4:2:2438:35407:11888,LH00995:41:23WJ53LT4:3:1147:20327:24330,LH00995:41:23WJ53LT4:3:1496:20699:7039,LH00995:41:23WJ53LT4:3:1496:20707:7025,LH00995:41:23WJ53LT4:4:2160:44864:4251,LH00995:41:23WJ53LT4:5:1134:12261:8679,LH00995:41:23WJ53LT4:5:2420:13208:21276,LH00995:41:23WJ53LT4:7:1161:8872:25227,LH00995:41:23WJ53LT4:7:1161:8880:25213

CRYZL2P

SEC16B

-/-

chr1:178037694

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

150

low

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

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

duplicates(1)

AGCGGCCGGCACTACCGCGCTGCGATTTGCGCAGAGCTGAAGAAGCCCCTGACCATTGAAGAGGTGGCCCCCGCCCCGTCGGGCCTCACGAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCC

LH00995:41:23WJ53LT4:2:2418:35811:16736,LH00995:41:23WJ53LT4:6:1220:6307:20729

CRYZL2P

SEC16B

-/-

chr1:178024404

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

150

low

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

ENSG00000242193.11

ENSG00000120341.18

ENST00000476232.6

ENST00000528461.5

upstream

downstream

CTTTTGAGAACCTACTCACTATCACGAGAACAGCATGAAG|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAG

LH00995:41:23WJ53LT4:7:1140:16055:11607

GRM8

-/-

chr7:127242695

chr7:127243515

CDS/splice-site

5'UTR/splice-site

duplication/non-canonical_splicing

390

low

out-of-frame

Receptor_family_ligand_binding_region(23%)|7_transmembrane_sweet-taste_receptor_of_3_GCPR(100%),Nine_Cysteines_Domain_of_family_3_GPCR(100%),Receptor_family_ligand_binding_region(100%)

ENSG00000179603.18

ENST00000339582.7

upstream

downstream

duplicates(6)

AGATTAACAAGGACCCTGATCTCCTTTCCAACATCACTCTGGGTGTCCGCATCCTCGACACGTGCTCTAGGGACACCTATGCTTTGGAGCAGTCTCTAACATTCGTGCAGGCATTAATAGAGAAAGATGCTTCGGATGTGAAGTGTGCTAATGGAGATCCACCCATTTTCACCAAGCCCGACAAGATTTCTGGCGTCATAGGTGCTGCAGCAAGCTCCGTGTCCATCATGGTTGCTAACATTTTAAGACTTTTTAAG|GAATAATTCTGCTACAAGGCTGATTTCAAGGACATGAATTGTTGACCTCATC

INKDPDLLSNITLGVRILDTCSRDTYALEQSLTFVQALIEKDASDVKCANGDPPIFTKPDKISGVIGAAASSVSIMVANILRLFK|e*

LH00995:41:23WJ53LT4:1:1233:22026:8777,LH00995:41:23WJ53LT4:1:1233:22042:8777,LH00995:41:23WJ53LT4:1:2257:8831:28688,LH00995:41:23WJ53LT4:1:2257:8839:28702,LH00995:41:23WJ53LT4:1:2257:8847:28688,LH00995:41:23WJ53LT4:2:2472:18652:29585,LH00995:41:23WJ53LT4:3:2422:27438:17506,LH00995:41:23WJ53LT4:4:1170:50478:22551,LH00995:41:23WJ53LT4:5:2107:10126:2037,LH00995:41:23WJ53LT4:5:2118:38343:7025

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

295

544

low

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(9)

GCAGAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTAT

AETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTF

LH00995:41:23WJ53LT4:1:2188:2958:24008,LH00995:41:23WJ53LT4:1:2266:46757:13191,LH00995:41:23WJ53LT4:1:2352:10878:27862,LH00995:41:23WJ53LT4:2:1150:48173:3564,LH00995:41:23WJ53LT4:2:2149:46134:15755,LH00995:41:23WJ53LT4:3:1157:2254:26432,LH00995:41:23WJ53LT4:3:1273:15036:16708,LH00995:41:23WJ53LT4:4:1259:39832:24793,LH00995:41:23WJ53LT4:4:2363:41636:20295,LH00995:41:23WJ53LT4:5:1301:26759:27595,LH00995:41:23WJ53LT4:6:2182:47121:11972,LH00995:41:23WJ53LT4:7:1158:22301:11523

AGAP3

HOXD11

+/+

chr7:151086814

chr2:176107588

CDS

translocation

142

low

in-frame

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

ENSG00000133612.19

ENSG00000128713.14

ENST00000397238.7

ENST00000249504.7

downstream

upstream

duplicates(5)

GGCAGAGCCCGCAGCAGCAGCAGAGCCTGGCGGCTCCGGGGGGCGGCGGCG|GCGGCGGCGGCGGCAGCGCGGGGGGCGGC

QSPQQQQSLAAPGGGG|gGGGGSAGG

LH00995:41:23WJ53LT4:3:1221:33328:16722,LH00995:41:23WJ53LT4:3:2247:47461:27834,LH00995:41:23WJ53LT4:5:1170:11533:23364,LH00995:41:23WJ53LT4:5:1338:17908:29025,LH00995:41:23WJ53LT4:5:1427:1275:2429,LH00995:41:23WJ53LT4:5:2256:49548:24667,LH00995:41:23WJ53LT4:5:2438:45293:25003,LH00995:41:23WJ53LT4:5:2456:43885:16147

KLRD1

SH3KBP1

+/+

-/-

chr12:10315838

chrX:19619033

3'UTR

intron

translocation

low

Lectin_C-type_domain(100%)|Variant_SH3_domain(17%)

ENSG00000134539.17

ENSG00000147010.18

ENST00000381908.7

downstream

duplicates(1)

CTTTCATTAGGCATTATCTTCTGTTTTGATTTTAACACTTAGAGTGGTTTTCTCTGTTATGAATCAAAGCTGATCTATTTTCATCATTTTTGTGATGAAAAAATTAATTTTGATTGACTTAGGATGGAAGGATTTGGAC|AAAGTGCTGGGATTACAGGCGTGAGTCACCGCTCCTGCCCGATTTTTTTTTTTTTTGTTC

LH00995:41:23WJ53LT4:1:1186:46935:29277,LH00995:41:23WJ53LT4:1:1186:46951:29277,LH00995:41:23WJ53LT4:1:1481:23911:13051,LH00995:41:23WJ53LT4:2:2318:31054:11047

FTO

NUP93

+/+

chr16:53934109

chr16:56758538

CDS/splice-site

deletion

2292

798

low

in-frame

FTO_C-terminal_domain(67%),FTO_catalytic_domain(100%)|Nup93/Nic96(100%)

ENSG00000140718.21

ENSG00000102900.13

ENST00000637969.1

ENST00000308159.10

downstream

upstream

GGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATCCTTGCCTCGCTCACTGCACGCCAGAACCTGAGGAGAGAATGGCATGCCAG|GTCAGTTCTCCTCGGGTCTCGGGGACTTGAC

LPVEQRNEILTAILASLTARQNLRREWHAr|SVLLGSRGL

LH00995:41:23WJ53LT4:2:1334:51287:9183,LH00995:41:23WJ53LT4:5:1390:37510:26544

PRTG

DAB2IP

-/-

+/+

chr15:55740382

chr9:121678678

CDS/splice-site

translocation

1341

low

in-frame

Immunoglobulin_I-set_domain(48%)|C2_domain(100%),Domain_of_unknown_function_(DUF3498)(100%),GTPase-activator_protein_for_Ras-like_GTPase(100%)

ENSG00000166450.13

ENSG00000136848.17

ENST00000389286.9

ENST00000489314.1

upstream

duplicates(4)

TGAAAATAAACGGATCGAGGTTCTTTCTAACGGCTCTTTATACATCAGTGAGGTGGAAGGCAGGCGAGGAGAGCAGTCCGATGAAGGATTTTATCAGTGCTTGGCAATGAACAAATATGGAGCCATTCTTAGTCAAAAAGCTCATCTTGCCTTATCAA|AGTCGCCTCAAGAAAGGCCGGGCTCTCGGCGCAGCCTGCCTGGCAGCCTTTCCGAGAAGAGCCCCAGCATGGAGCCCTCGGCCGCCACGCCGTTCCGGGTCACGGTAACTATCTCTGCGTCACCAACACCGCCACTGCCACCACCATCACCACCTCGCCCGGGGTGCTGCTCTGTGACCCCACGGCCCCCCTTCCTGGAGCCTCATGGAC

ENKRIEVLSNGSLYISEVEGRRGEQSDEGFYQCLAMNKYGAILSQKAHLALS|kSPQERPGSRRSLPGSLSEKSPSMEPSAATPFRVTvtisasptpplpppspprpgccsvtprppflephg

LH00995:41:23WJ53LT4:3:1474:11687:5442,LH00995:41:23WJ53LT4:3:2294:27640:15335,LH00995:41:23WJ53LT4:5:2442:44597:6114,LH00995:41:23WJ53LT4:1:2429:29970:24751,LH00995:41:23WJ53LT4:6:1460:20877:3088,LH00995:41:23WJ53LT4:6:1460:20893:3088

GSK3B

KLHL6

-/-

chr3:120002046

chr3:183528010

CDS/splice-site

duplication

1496

234

low

out-of-frame

Protein_kinase_domain(13%)|BTB/POZ_domain(66%),BTB_And_C-terminal_Kelch(100%),Kelch_motif(100%)

ENSG00000082701.17

ENSG00000172578.12

ENST00000264235.13

ENST00000341319.8

upstream

downstream

duplicates(2)

GGTCGCCATCAAGAAAGTATTGCAGGACAAGAGATTTAAG|GGCCATGTTCTGCAACGATTTAAAGGAAAAGTATGAGAAAAGGATCATTATTAAAGGGGTTGATGCTGAGACCATGCACACTCTGTTGGACTACACGTACACCAGCAAGGC...CGGGTCCTGGAGGCTGCTAACCTCTTCCAGGTGTGTGAACAAACTGGCTCAGTGCTCTTCTCTGAAGCAGGTGAATGCAGTAATTCTCCAGAGGCCAGACCTGGTCTAGCTCCCAGGCCTGTACCTGGGACATGGACACACACACACACACGC

VAIKKVLQDKRFK|ghvlqrfkgkv*

LH00995:41:23WJ53LT4:2:1496:29299:12770,LH00995:41:23WJ53LT4:2:1496:29315:12770,LH00995:41:23WJ53LT4:5:1456:7618:27455,LH00995:41:23WJ53LT4:6:1128:21144:27792

MOV10

NOD2

+/+

chr1:112696846

chr16:50716587

CDS/splice-site

translocation

1106

206

low

in-frame

AAA_domain(54%)|Leucine_Rich_repeat(100%)

ENSG00000155363.18

ENSG00000167207.14

ENST00000413052.6

ENST00000647318.2

downstream

upstream

duplicates(2)

CTGCTGGAatGGCTGCTCACCTACAACTCCCTGTACAAGAAGGGCCCTGATGGCTATGACCCCCAGTTCATAACCAAGCTGCTCCGCAACTACAG|TTTGCGCGATAACAATATCTCAGACCGAGGCATCTGCAAGCTCATTGAATGTGCTCTTCACTGCGAGCAATTGCAGAAGTTAGC___TCTATTCAACAACAAATT

LLEwLLTYNSLYKKGPDGYDPQFITKLLRNYs|LRDNNISDRGICKLIECALHCEQLQKLALFNNK

LH00995:41:23WJ53LT4:1:2378:11557:18585,LH00995:41:23WJ53LT4:1:2378:15238:17338,LH00995:41:23WJ53LT4:2:2216:14195:7320,LH00995:41:23WJ53LT4:5:2490:36814:13065

FLI1

COLCA1

+/+

-/-

chr11:128758326

chr11:111298666

CDS/splice-site

exon/splice-site

inversion

5017

low

out-of-frame

ENSG00000151702.17

ENSG00000196167.10

ENST00000344954.10

ENST00000620864.1

downstream

duplicates(17)

CCCATCTCCCCAAGGCCGACATGACTGCCTCGGGGAGTCCTGACTACGGGCAGCCCCACAAGATCAACCCCCTCCCACCACAGCAGGAGTGGATCAATCAGCCAGTGAGGGTCAACGTCAAGCGGGAGTATGACCACATGAATGGATCCAG|GAAAAGCCGTGGAAACACACCCGGATTGAAATGCC

MDP|gkavethpd*

LH00995:41:23WJ53LT4:1:1187:12488:5120,LH00995:41:23WJ53LT4:1:2132:10538:27385,LH00995:41:23WJ53LT4:1:2247:44540:28072,LH00995:41:23WJ53LT4:2:1177:7294:13107,LH00995:41:23WJ53LT4:2:1485:32365:15138,LH00995:41:23WJ53LT4:2:2462:1283:27946,LH00995:41:23WJ53LT4:3:1135:22794:23027,LH00995:41:23WJ53LT4:3:1491:12997:17549,LH00995:41:23WJ53LT4:3:2155:50592:13639,LH00995:41:23WJ53LT4:3:2220:3662:11775,LH00995:41:23WJ53LT4:3:2252:2294:8342,LH00995:41:23WJ53LT4:4:2371:32802:11215,LH00995:41:23WJ53LT4:5:1114:51603:4797,LH00995:41:23WJ53LT4:5:1257:27640:3088,LH00995:41:23WJ53LT4:5:1264:8588:22074,LH00995:41:23WJ53LT4:5:1308:14332:2457,LH00995:41:23WJ53LT4:5:2372:12860:6857,LH00995:41:23WJ53LT4:6:2241:23215:16862,LH00995:41:23WJ53LT4:7:1174:42138:28254

ASPH

RAB2A

-/-

+/+

chr8:61680967

chr8:60558853

exon/splice-site

CDS/splice-site

inversion

7766

2431

low

Aspartyl_beta-hydroxylase_N-terminal_region(18%)|Ras_family(94%)

ENSG00000198363.18

ENSG00000104388.15

ENST00000522325.1

ENST00000262646.12

upstream

duplicates(5)

CAAAGCATGGAGGACACAAGAATGGGAGGAAAGGCGGACTCTCAGGAACTTCATTCTTCACGTGGTTTATGGTGATTGCATTGCTGGGCGTCTGGACATCTGTAGCTGTCGTTTGGTTTGATCTTGTTGACTATGAGGAAGTTCTAG___GAAAACTAGGAATCTATGATGCTGATGGTGATGGAGATTTTGATGTGGATGATGCCAAAGTTTTATTAGG|TGTTGGTAAATCATGCTTATTGCTACAGTTTACAGACAAGAGGTTTCAGCCAGTGCATGACCTTACTATTG___GTGTAGAGTTCGG

LH00995:41:23WJ53LT4:1:1107:29291:21136,LH00995:41:23WJ53LT4:5:1153:35706:9800,LH00995:41:23WJ53LT4:5:2404:13086:28044,LH00995:41:23WJ53LT4:2:2214:41021:27918,LH00995:41:23WJ53LT4:3:2203:38279:27203,LH00995:41:23WJ53LT4:3:2420:49637:26923,LH00995:41:23WJ53LT4:4:2106:31257:22663

PPIP5K1

CATSPER2

-/-

chr15:43564867

chr15:43649900

CDS/splice-site

intron

duplication

607

low

out-of-frame

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(100%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000409481.1

upstream

downstream

duplicates(1),mismatches(1)

GGCCTAG___GCTCACAGTGCACAGGGCTGTTCAGCACCACAGTGCTGGGTGGCTtCTCCAGTGCCCCGAATCTTCAGGACTACGCCCGCAGCCATGGCAAAAAGCTACCACCTGCCAGTCTGAAGCACCGAGATG|GTACTCTTTTCGTTTGGACAGAGGTATCTGCCGGTACTGAGATGTAAGTcATCA

ahsaqgcsapqcwvaspvprifrttpaamaksyhlpv*stem|vlfsfgqrylpvlrcks

LH00995:41:23WJ53LT4:3:2410:2464:11691,LH00995:41:23WJ53LT4:2:2219:26289:6997,LH00995:41:23WJ53LT4:5:2210:28385:26965

PPIP5K1

CATSPER2

-/-

chr15:43564867

chr15:43632363

CDS/splice-site

duplication

607

179

low

in-frame

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000396879.8

upstream

downstream

mismatches(1)

GCCAGTCTGAAGCACCGAGATG|GTCGTTTGGACTGGGAGACTCTTGTGCACGAAAATCTGCCCGGGCTAATGGAAATGGATCAGGATGACCGTGTTTGGCCCAGAGACTCACTCTTCC

ASLKHRD|gRLDWETLVHENLPGLMEMDQDDRVWPRDSLF

LH00995:41:23WJ53LT4:6:1197:37898:29319

PPIP5K1

CATSPER2

-/-

chr15:43564867

chr15:43648066

CDS/splice-site

duplication

607

263

low

in-frame

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(100%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000381761.6

upstream

downstream

duplicates(4),mismappers(2)

CAAAAAGCTcCCACCTGCCAGTCTGAAGCACCGAGATG|CAGACATGGCCGCTTACCAACAAGAAGAGCAGATGCAGCTTCCCCGAGCTGATGCCATTCGTTCACGTCTCATCGATACTTTCTCTCTCATTGAGCATTTGCAAGGCTTGAGCCAAGCTGTGCCGCGGCACACTATCAGGGAGTTACTTGaTC

KKLPPASLKHRD|aDMAAYQQEEQMQLPRADAIRSRLIDTFSLIEHLQGLSQAVPRHTIRELLd

LH00995:41:23WJ53LT4:1:2385:25480:10472,LH00995:41:23WJ53LT4:3:2338:33441:19861,LH00995:41:23WJ53LT4:4:1201:26378:3957,LH00995:41:23WJ53LT4:6:1368:50810:10178,LH00995:41:23WJ53LT4:6:1368:50818:10192,LH00995:41:23WJ53LT4:6:2124:22600:2906

PPIP5K1

CATSPER2

-/-

chr15:43564867

chr15:43640496

CDS/splice-site

duplication

607

274

low

in-frame

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(90%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000396879.8

upstream

downstream

mismappers(2)

GCTcCCACCTGCCAGTCTGAAGCACCGAGATG|AATTGCTGGAATCCACAAATACCAAACTATGGCCATTGAAGCTGACCTTGGAGGTGGCAGCTTGGTTTATCTTGCTTATTTTCATCCTGGAGATCCTTCTTAAG

LPPASLKHRD|eLLESTNTKLWPLKLTLEVAAWFILLIFILEILL

LH00995:41:23WJ53LT4:3:2193:25213:22537,LH00995:41:23WJ53LT4:6:1202:6469:3130

PPIP5K1

CATSPER2

-/-

chr15:43564103

chr15:43640496

CDS/splice-site

duplication

497

274

low

in-frame

Diphosphoinositol_pentakisphosphate_kinase_2_N-terminal_domain(100%),Histidine_phosphatase_superfamily_(branch_2)(100%)|Ion_transport_protein(90%)

ENSG00000168781.22

ENSG00000166762.19

ENST00000420765.5

ENST00000396879.8

upstream

downstream

mismappers(1)

GTTTGTCCCGGCCGTcAAACGATTTTCTGTGTCGTTTGCAAAGCATCCGACTAACG|AATTGCTGGAATCCACAAATACCAAACTATGGCCATTGAAGCTGACCTTGGAGGTGGCAGCTTGGTTTATCTTGCTTATTTTCATCCTGGAGATCCTTCTTAAGTGGC

FVPAVKRFSVSFAKHPTN|eLLESTNTKLWPLKLTLEVAAWFILLIFILEILLKW

LH00995:41:23WJ53LT4:7:1127:16201:10458

AKR1C6P

AKR1E2

-/+

+/+

chr10:4908420

chr10:4842421

intergenic

CDS/splice-site

duplication/3'-3'

623

low

|Aldo/keto_reductase_family(15%)

ENSG00000151631.8

ENSG00000165568.18

ENST00000474119.5

downstream

upstream

GCCATCCATGTAAGACGCGACTTGTTTCTCCTTGCCTTCTGTCATGATTGTGAGGCTTCCCCAGACACTTGGAACT___GCACAAAAACGTGTTTTGAACCTACTCTAACCAACTGTCAAAAGGCTGTGTTAAGTGATTCTCTGACAAG|ATTTTGATCCGATTTCAAATCCAGAGGAATGTGATAGTGATCCCCGGATCTATCACCCCAAGTCACATTAAAGAGAATATCCAGGT

LH00995:41:23WJ53LT4:5:2190:12423:20029

LINC00486

NEO1

+/+

chr2:32916563

chr15:73135987

intron

CDS/splice-site

translocation

65535

585

low

|Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(56%),Neogenin_C-terminus(100%)

ENSG00000230876.8

ENSG00000067141.17

ENST00000339362.9

downstream

upstream

inconsistently_clipped(1)

GGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGG|AAATGAGACAATTGAAGCTCAAGCAGAGCTTACAGTGCAAG___CTCAACCTGAATTCCTGAAGCAGCCTACTAATATATATGCTCACGAATCTATGGATATTGTATTTGAATGTGAAGTGACTGGAAAAC

LH00995:41:23WJ53LT4:2:2317:22350:8973

138 rows