aih-tih-sc-3cac57-R1_A23WJ53LT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-3cac57-R1_A23WJ53LT4_1)

File Info

Filename: aih-tih-sc-3cac57-R1_A23WJ53LT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/75/24ff6a703e32717d4faa3b761b249f/aih-tih-sc-3cac57-R1_A23WJ53LT4_1.arriba.fusions.tsv
Size: 529.7 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-3cac57-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

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

100

1098

570

high

stop-codon

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(157),low_entropy(1),mismatches(2)

CTGGAACCACAGGCGCGCCACTACACCTGGCTAATTTATTTTTATTTTATTTTTTGTAGAGACGGTCTCGCCACATTGCCCAGACTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTA

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TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1307

570

medium

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(22)

TCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGT

SSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:41:23WJ53LT4:1:1170:36661:14480,LH00995:41:23WJ53LT4:1:1374:36240:8707,LH00995:41:23WJ53LT4:1:1394:40245:19875,LH00995:41:23WJ53LT4:1:2121:43108:10178,LH00995:41:23WJ53LT4:1:2239:21880:22313,LH00995:41:23WJ53LT4:1:2333:35625:21682,LH00995:41:23WJ53LT4:2:1152:50745:11215,LH00995:41:23WJ53LT4:2:1225:31313:13849,LH00995:41:23WJ53LT4:2:1256:16646:20141,LH00995:41:23WJ53LT4:2:1428:3848:16890,LH00995:41:23WJ53LT4:2:1434:37235:12840,LH00995:41:23WJ53LT4:2:2305:13782:25437,LH00995:41:23WJ53LT4:2:2307:8783:8314,LH00995:41:23WJ53LT4:2:2363:50559:25662,LH00995:41:23WJ53LT4:2:2384:51344:16596,LH00995:41:23WJ53LT4:3:1152:6485:18151,LH00995:41:23WJ53LT4:3:2414:39436:27553,LH00995:41:23WJ53LT4:3:2449:6186:16820,LH00995:41:23WJ53LT4:3:2488:39541:15573,LH00995:41:23WJ53LT4:4:1341:28118:16329,LH00995:41:23WJ53LT4:4:1467:4382:22215,LH00995:41:23WJ53LT4:4:1467:5069:12756,LH00995:41:23WJ53LT4:4:1467:5085:12756,LH00995:41:23WJ53LT4:4:2235:36572:21948,LH00995:41:23WJ53LT4:4:2329:24712:16540,LH00995:41:23WJ53LT4:4:2463:30747:9309,LH00995:41:23WJ53LT4:5:1124:1744:26614,LH00995:41:23WJ53LT4:5:1429:48132:24765,LH00995:41:23WJ53LT4:5:1452:20934:28380,LH00995:41:23WJ53LT4:5:1452:20942:28366,LH00995:41:23WJ53LT4:5:1493:45147:5666,LH00995:41:23WJ53LT4:5:2156:42615:5148,LH00995:41:23WJ53LT4:5:2322:1566:12182,LH00995:41:23WJ53LT4:5:2357:28223:2079,LH00995:41:23WJ53LT4:5:2429:48949:28814,LH00995:41:23WJ53LT4:1:1174:12447:23013,LH00995:41:23WJ53LT4:1:1174:12455:22999,LH00995:41:23WJ53LT4:2:1357:37025:7404,LH00995:41:23WJ53LT4:3:1387:48577:27777,LH00995:41:23WJ53LT4:3:1387:48585:27792,LH00995:41:23WJ53LT4:3:1461:45956:21696,LH00995:41:23WJ53LT4:3:2113:42914:5302,LH00995:41:23WJ53LT4:3:2197:9486:21696,LH00995:41:23WJ53LT4:4:1406:3985:21024,LH00995:41:23WJ53LT4:4:1470:35302:25942,LH00995:41:23WJ53LT4:4:2422:19251:6044,LH00995:41:23WJ53LT4:5:1471:13216:10809,LH00995:41:23WJ53LT4:5:2143:37915:28534,LH00995:41:23WJ53LT4:5:2189:7407:24989,LH00995:41:23WJ53LT4:5:2189:7415:24975,LH00995:41:23WJ53LT4:5:2338:1380:14774,LH00995:41:23WJ53LT4:6:1221:18725:29179

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2780

570

medium

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(40),low_entropy(2)

GACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCT

LIACSVLWVIFAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:41:23WJ53LT4:1:1225:19801:17338,LH00995:41:23WJ53LT4:1:1448:13920:19678,LH00995:41:23WJ53LT4:1:2331:47728:14956,LH00995:41:23WJ53LT4:1:2383:5239:25858,LH00995:41:23WJ53LT4:2:1237:9988:23490,LH00995:41:23WJ53LT4:2:1237:9996:23476,LH00995:41:23WJ53LT4:2:2424:21629:6493,LH00995:41:23WJ53LT4:3:1254:44775:23406,LH00995:41:23WJ53LT4:4:1307:29542:21934,LH00995:41:23WJ53LT4:1:1306:30569:3648,LH00995:41:23WJ53LT4:1:1306:30577:3662,LH00995:41:23WJ53LT4:1:2104:3880:28324,LH00995:41:23WJ53LT4:1:2107:5174:24344,LH00995:41:23WJ53LT4:1:2231:24089:4671,LH00995:41:23WJ53LT4:1:2340:26176:4587,LH00995:41:23WJ53LT4:1:2374:46806:9940,LH00995:41:23WJ53LT4:2:1134:31782:28562,LH00995:41:23WJ53LT4:2:1209:40876:3424,LH00995:41:23WJ53LT4:2:1302:38214:26586,LH00995:41:23WJ53LT4:2:1302:38230:26586,LH00995:41:23WJ53LT4:2:1302:38246:26586,LH00995:41:23WJ53LT4:2:1342:14454:17380,LH00995:41:23WJ53LT4:2:1391:50996:19300,LH00995:41:23WJ53LT4:2:1391:51004:19286,LH00995:41:23WJ53LT4:2:1426:32049:13247,LH00995:41:23WJ53LT4:2:2126:23118:20645,LH00995:41:23WJ53LT4:2:2208:21144:13583,LH00995:41:23WJ53LT4:2:2234:40188:5652,LH00995:41:23WJ53LT4:2:2282:22859:22831,LH00995:41:23WJ53LT4:2:2282:22867:22845,LH00995:41:23WJ53LT4:2:2433:20295:13037,LH00995:41:23WJ53LT4:3:1187:23523:26755,LH00995:41:23WJ53LT4:3:1187:23531:26741,LH00995:41:23WJ53LT4:3:1187:23531:26769,LH00995:41:23WJ53LT4:3:1187:23539:26783,LH00995:41:23WJ53LT4:3:1366:38894:17759,LH00995:41:23WJ53LT4:3:1470:51789:20253,LH00995:41:23WJ53LT4:3:1470:51797:20267,LH00995:41:23WJ53LT4:3:2159:8710:29655,LH00995:41:23WJ53LT4:3:2490:40892:19258,LH00995:41:23WJ53LT4:4:1214:12690:20911,LH00995:41:23WJ53LT4:4:1218:47445:25087,LH00995:41:23WJ53LT4:4:1394:25626:18263,LH00995:41:23WJ53LT4:4:2108:31847:13205,LH00995:41:23WJ53LT4:4:2224:49653:12798,LH00995:41:23WJ53LT4:4:2250:20189:29529,LH00995:41:23WJ53LT4:4:2367:24542:11958,LH00995:41:23WJ53LT4:4:2466:10247:6030,LH00995:41:23WJ53LT4:5:1213:15279:13625,LH00995:41:23WJ53LT4:5:1286:2820:29151,LH00995:41:23WJ53LT4:5:1326:31321:7025,LH00995:41:23WJ53LT4:5:1329:11210:5708,LH00995:41:23WJ53LT4:5:1333:6234:28870,LH00995:41:23WJ53LT4:5:1440:24631:17689,LH00995:41:23WJ53LT4:5:1476:16832:20799,LH00995:41:23WJ53LT4:5:1497:7545:8581,LH00995:41:23WJ53LT4:5:2107:11129:11453,LH00995:41:23WJ53LT4:5:2107:11137:11439,LH00995:41:23WJ53LT4:5:2107:11145:11453,LH00995:41:23WJ53LT4:6:1179:48238:14410,LH00995:41:23WJ53LT4:6:1207:14891:16400

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

570

medium

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000581273.5

ENST00000619038.5

upstream

downstream

duplicates(20)

GGAAGGACCGTGTGAAGACGAAGGGGGAAGATGCCGTCCACAAGCCAAGGAGAGAGGCCTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGT

LH00995:41:23WJ53LT4:1:1112:32834:28842,LH00995:41:23WJ53LT4:1:1132:4463:15096,LH00995:41:23WJ53LT4:1:1180:35407:7263,LH00995:41:23WJ53LT4:1:1247:20125:28969,LH00995:41:23WJ53LT4:1:1247:20133:28983,LH00995:41:23WJ53LT4:1:1247:20149:28983,LH00995:41:23WJ53LT4:1:1286:42437:11565,LH00995:41:23WJ53LT4:1:1487:31880:28955,LH00995:41:23WJ53LT4:1:1487:31888:28941,LH00995:41:23WJ53LT4:1:1487:31896:28955,LH00995:41:23WJ53LT4:1:1487:31904:28941,LH00995:41:23WJ53LT4:1:2451:25941:9814,LH00995:41:23WJ53LT4:2:1339:45754:23924,LH00995:41:23WJ53LT4:2:2193:12415:3228,LH00995:41:23WJ53LT4:2:2193:12431:3228,LH00995:41:23WJ53LT4:2:2442:28619:10220,LH00995:41:23WJ53LT4:3:1324:22244:8427,LH00995:41:23WJ53LT4:3:1351:7237:3396,LH00995:41:23WJ53LT4:3:2238:39476:1953,LH00995:41:23WJ53LT4:3:2280:48051:3046,LH00995:41:23WJ53LT4:3:2360:19114:11411,LH00995:41:23WJ53LT4:3:2398:44759:15251,LH00995:41:23WJ53LT4:4:1156:20877:8749,LH00995:41:23WJ53LT4:4:2250:6614:7838,LH00995:41:23WJ53LT4:4:2280:49621:6409,LH00995:41:23WJ53LT4:4:2380:6194:17815,LH00995:41:23WJ53LT4:4:2425:37979:17857,LH00995:41:23WJ53LT4:4:2425:37987:17843,LH00995:41:23WJ53LT4:5:1345:10951:22523,LH00995:41:23WJ53LT4:5:2370:9721:17703,LH00995:41:23WJ53LT4:5:2428:1874:6829,LH00995:41:23WJ53LT4:5:2479:48771:24667,LH00995:41:23WJ53LT4:6:1123:41895:19118,LH00995:41:23WJ53LT4:4:2207:28652:23504

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15438200

CDS/splice-site

deletion/read-through

1307

683

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(4)

TGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTGGAATGCATGCGTGCCCTCGAGGAAAGACCCTGGGCATCAAGGCAGAATAAACCTTCCAGCGTCATTCAGCCGAAAAGGAGGAAGTCTTCCAAGTCTTCTGGCAAAGCTGTGTTCAGGGACACGCTGTCAGAATCCACGTTATCAATGTG

VSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:41:23WJ53LT4:1:2254:13952:22145,LH00995:41:23WJ53LT4:1:2256:22139:13205,LH00995:41:23WJ53LT4:2:1385:23741:10402,LH00995:41:23WJ53LT4:3:1372:2553:23980,LH00995:41:23WJ53LT4:3:1372:2561:23966,LH00995:41:23WJ53LT4:3:1372:2569:23980,LH00995:41:23WJ53LT4:3:2297:19130:25788,LH00995:41:23WJ53LT4:5:2198:37858:29305

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

2780

683

low

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(4)

GGCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAG

AVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:41:23WJ53LT4:1:2144:44055:27175,LH00995:41:23WJ53LT4:1:2252:39856:3144,LH00995:41:23WJ53LT4:2:1188:23094:26040,LH00995:41:23WJ53LT4:2:2107:32009:24022,LH00995:41:23WJ53LT4:3:1353:34104:26839,LH00995:41:23WJ53LT4:3:2240:48917:10346,LH00995:41:23WJ53LT4:5:1443:43926:26138

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15438200

3'UTR/splice-site

CDS/splice-site

deletion/read-through

683

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

CTTAGAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGACTCATTGAGAAAAGCAAAACTAGAGAACTGGAATGCATGCGTGCCCTCGAGGAAAGACCCTGGGCATCAAGGCAGAATAAACCTTCCAGCGTC

LH00995:41:23WJ53LT4:1:2181:49063:1266,LH00995:41:23WJ53LT4:1:2261:39419:1743

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2362

399

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(96),mismatches(1)

AGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCCTGGGTGGAGCTTCCCCAATGCATCGTCATTCCCTGACCCTTGCATCTGACCCTGTGGGTGGGACCCTCCGCCTCCACCATCCACTCAAGGCTCAC

VLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|agyeeetqnnrsglwnymevteegtnqrplsnqdvg*

LH00995:41:23WJ53LT4:1:1119:25828:24358,LH00995:41:23WJ53LT4:1:1142:6849:22705,LH00995:41:23WJ53LT4:1:1154:48666:22046,LH00995:41:23WJ53LT4:1:1154:48682:22046,LH00995:41:23WJ53LT4:1:1154:48699:22046,LH00995:41:23WJ53LT4:1:1239:48326:9688,LH00995:41:23WJ53LT4:1:1257:23288:8917,LH00995:41:23WJ53LT4:1:1336:24081:12420,LH00995:41:23WJ53LT4:1:1336:24097:12420,LH00995:41:23WJ53LT4:1:1413:39290:10290,LH00995:41:23WJ53LT4:1:1451:30084:7488,LH00995:41:23WJ53LT4:1:2163:48278:2093,LH00995:41:23WJ53LT4:1:2214:39120:27623,LH00995:41:23WJ53LT4:1:2214:39128:27637,LH00995:41:23WJ53LT4:1:2233:49047:3032,LH00995:41:23WJ53LT4:1:2238:18984:3060,LH00995:41:23WJ53LT4:1:2278:17398:7011,LH00995:41:23WJ53LT4:1:2280:2715:1280,LH00995:41:23WJ53LT4:1:2284:17390:7165,LH00995:41:23WJ53LT4:1:2294:51109:26166,LH00995:41:23WJ53LT4:1:2370:42906:20169,LH00995:41:23WJ53LT4:1:2370:42914:20183,LH00995:41:23WJ53LT4:1:2370:42922:20169,LH00995:41:23WJ53LT4:1:2409:27284:23714,LH00995:41:23WJ53LT4:1:2417:21023:5610,LH00995:41:23WJ53LT4:1:2425:21629:4923,LH00995:41:23WJ53LT4:1:2456:38788:20015,LH00995:41:23WJ53LT4:1:2489:4390:17408,LH00995:41:23WJ53LT4:2:1102:45560:19020,LH00995:41:23WJ53LT4:2:1102:45568:19034,LH00995:41:23WJ53LT4:2:1237:22900:16456,LH00995:41:23WJ53LT4:2:1256:49394:27876,LH00995:41:23WJ53LT4:2:1292:16897:20939,LH00995:41:23WJ53LT4:2:1337:15602:23125,LH00995:41:23WJ53LT4:2:1363:41199:2163,LH00995:41:23WJ53LT4:2:1406:13281:21822,LH00995:41:23WJ53LT4:2:1411:14195:5862,LH00995:41:23WJ53LT4:2:2130:41345:10094,LH00995:41:23WJ53LT4:2:2141:10870:6997,LH00995:41:23WJ53LT4:2:2141:11129:6885,LH00995:41:23WJ53LT4:2:2206:51708:19440,LH00995:41:23WJ53LT4:2:2220:4527:19945,LH00995:41:23WJ53LT4:2:2254:7877:17422,LH00995:41:23WJ53LT4:2:2254:7885:17436,LH00995:41:23WJ53LT4:2:2254:7893:17422,LH00995:41:23WJ53LT4:2:2270:27511:6199,LH00995:41:23WJ53LT4:2:2294:41434:19384,LH00995:41:23WJ53LT4:2:2294:41442:19398,LH00995:41:23WJ53LT4:2:2418:40131:14438,LH00995:41:23WJ53LT4:2:2498:37454:7334,LH00995:41:23WJ53LT4:3:1139:48513:10598,LH00995:41:23WJ53LT4:3:1162:50406:22229,LH00995:41:23WJ53LT4:3:1203:47679:28520,LH00995:41:23WJ53LT4:3:1224:27640:2920,LH00995:41:23WJ53LT4:3:1279:46741:11061,LH00995:41:23WJ53LT4:3:1280:9333:28072,LH00995:41:23WJ53LT4:3:1281:8354:17745,LH00995:41:23WJ53LT4:3:1281:8362:17731,LH00995:41:23WJ53LT4:3:1281:8378:17731,LH00995:41:23WJ53LT4:3:1337:31111:15993,LH00995:41:23WJ53LT4:3:1379:48359:2597,LH00995:41:23WJ53LT4:3:1379:48367:2611,LH00995:41:23WJ53LT4:3:1429:38619:3774,LH00995:41:23WJ53LT4:3:1452:50559:20617,LH00995:41:23WJ53LT4:3:1464:47534:15236,LH00995:41:23WJ53LT4:3:1481:16371:26250,LH00995:41:23WJ53LT4:3:2186:19380:16161,LH00995:41:23WJ53LT4:3:2257:29145:7936,LH00995:41:23WJ53LT4:3:2260:16314:10823,LH00995:41:23WJ53LT4:3:2389:29817:12238,LH00995:41:23WJ53LT4:3:2389:29825:12252,LH00995:41:23WJ53LT4:3:2389:29833:12210,LH00995:41:23WJ53LT4:3:2389:29833:12238,LH00995:41:23WJ53LT4:3:2389:29841:12224,LH00995:41:23WJ53LT4:3:2389:29849:12238,LH00995:41:23WJ53LT4:3:2390:8014:17997,LH00995:41:23WJ53LT4:3:2406:9543:6185,LH00995:41:23WJ53LT4:4:1145:26653:17352,LH00995:41:23WJ53LT4:4:1147:16889:5596,LH00995:41:23WJ53LT4:4:1233:15344:27301,LH00995:41:23WJ53LT4:4:1233:15352:27315,LH00995:41:23WJ53LT4:4:1243:5700:7151,LH00995:41:23WJ53LT4:4:1426:34250:19945,LH00995:41:23WJ53LT4:4:1437:29792:24751,LH00995:41:23WJ53LT4:4:1468:19380:1673,LH00995:41:23WJ53LT4:4:1468:19389:1687,LH00995:41:23WJ53LT4:4:2202:4042:22663,LH00995:41:23WJ53LT4:4:2265:4705:19104,LH00995:41:23WJ53LT4:4:2285:31888:6241,LH00995:41:23WJ53LT4:4:2324:2084:19524,LH00995:41:23WJ53LT4:4:2350:34226:20996,LH00995:41:23WJ53LT4:4:2367:34347:23700,LH00995:41:23WJ53LT4:4:2373:17431:27974,LH00995:41:23WJ53LT4:4:2463:46199:22593,LH00995:41:23WJ53LT4:5:1178:16193:20813,LH00995:41:23WJ53LT4:5:1178:16201:20827,LH00995:41:23WJ53LT4:5:1227:10740:5204,LH00995:41:23WJ53LT4:5:1227:10757:5204,LH00995:41:23WJ53LT4:5:1244:47340:14256,LH00995:41:23WJ53LT4:5:1283:19801:23223,LH00995:41:23WJ53LT4:5:1302:3807:27189,LH00995:41:23WJ53LT4:5:1322:39978:24316,LH00995:41:23WJ53LT4:5:1322:39986:24330,LH00995:41:23WJ53LT4:5:1357:27867:9926,LH00995:41:23WJ53LT4:5:1438:41709:3326,LH00995:41:23WJ53LT4:5:1464:41507:25536,LH00995:41:23WJ53LT4:5:2123:38408:24092,LH00995:41:23WJ53LT4:5:2186:29177:17240,LH00995:41:23WJ53LT4:5:2215:25715:21304,LH00995:41:23WJ53LT4:5:2235:12917:24106,LH00995:41:23WJ53LT4:5:2284:17318:22257,LH00995:41:23WJ53LT4:5:2346:30011:29557,LH00995:41:23WJ53LT4:5:2379:13895:10332,LH00995:41:23WJ53LT4:5:2494:28652:7782,LH00995:41:23WJ53LT4:6:1121:10101:12056,LH00995:41:23WJ53LT4:6:1168:13815:5036,LH00995:41:23WJ53LT4:1:1126:15481:19356,LH00995:41:23WJ53LT4:1:1166:27131:27511,LH00995:41:23WJ53LT4:1:1209:44225:13093,LH00995:41:23WJ53LT4:1:1254:41304:23616,LH00995:41:23WJ53LT4:1:1295:11210:25213,LH00995:41:23WJ53LT4:1:1311:42364:8356,LH00995:41:23WJ53LT4:1:1322:35811:25423,LH00995:41:23WJ53LT4:1:1360:5239:5148,LH00995:41:23WJ53LT4:1:1432:15837:22131,LH00995:41:23WJ53LT4:1:1460:14300:12434,LH00995:41:23WJ53LT4:1:2206:37049:13443,LH00995:41:23WJ53LT4:1:2352:41426:26965,LH00995:41:23WJ53LT4:1:2451:6890:4167,LH00995:41:23WJ53LT4:2:1110:45641:28604,LH00995:41:23WJ53LT4:2:1118:30529:28492,LH00995:41:23WJ53LT4:2:1303:3152:2205,LH00995:41:23WJ53LT4:2:2179:48424:6801,LH00995:41:23WJ53LT4:2:2213:42987:10949,LH00995:41:23WJ53LT4:2:2349:48521:28408,LH00995:41:23WJ53LT4:2:2482:19340:29571,LH00995:41:23WJ53LT4:2:2489:19041:5036,LH00995:41:23WJ53LT4:3:1221:2691:20911,LH00995:41:23WJ53LT4:3:1240:52202:6731,LH00995:41:23WJ53LT4:3:1270:9058:8623,LH00995:41:23WJ53LT4:3:1270:9058:8651,LH00995:41:23WJ53LT4:3:1270:9066:8637,LH00995:41:23WJ53LT4:3:1270:9082:8637,LH00995:41:23WJ53LT4:3:1270:9090:8651,LH00995:41:23WJ53LT4:3:1272:8160:13933,LH00995:41:23WJ53LT4:3:1280:38772:7600,LH00995:41:23WJ53LT4:3:1294:10077:21206,LH00995:41:23WJ53LT4:3:1294:10085:21220,LH00995:41:23WJ53LT4:3:1294:10093:21206,LH00995:41:23WJ53LT4:3:1297:38918:9197,LH00995:41:23WJ53LT4:3:1391:3904:19314,LH00995:41:23WJ53LT4:3:1417:3144:5106,LH00995:41:23WJ53LT4:3:1444:39436:16540,LH00995:41:23WJ53LT4:3:1445:35480:29669,LH00995:41:23WJ53LT4:3:2120:42720:3200,LH00995:41:23WJ53LT4:3:2137:49160:11327,LH00995:41:23WJ53LT4:3:2187:30998:26054,LH00995:41:23WJ53LT4:3:2228:26281:29655,LH00995:41:23WJ53LT4:3:2228:26289:29669,LH00995:41:23WJ53LT4:3:2228:26297:29655,LH00995:41:23WJ53LT4:3:2410:29542:16273,LH00995:41:23WJ53LT4:4:1154:6720:18810,LH00995:41:23WJ53LT4:4:1154:6728:18824,LH00995:41:23WJ53LT4:4:1234:44370:4237,LH00995:41:23WJ53LT4:4:1234:44379:4251,LH00995:41:23WJ53LT4:4:1253:38149:3606,LH00995:41:23WJ53LT4:4:1275:34088:5120,LH00995:41:23WJ53LT4:4:1345:20829:22957,LH00995:41:23WJ53LT4:4:1345:20845:22957,LH00995:41:23WJ53LT4:4:1439:5417:20113,LH00995:41:23WJ53LT4:4:1439:5425:20099,LH00995:41:23WJ53LT4:4:2117:48966:23910,LH00995:41:23WJ53LT4:4:2125:3128:28562,LH00995:41:23WJ53LT4:4:2173:10943:23602,LH00995:41:23WJ53LT4:4:2173:10951:23616,LH00995:41:23WJ53LT4:4:2173:10967:23616,LH00995:41:23WJ53LT4:4:2262:37130:2934,LH00995:41:23WJ53LT4:4:2284:16816:6479,LH00995:41:23WJ53LT4:4:2409:25594:23784,LH00995:41:23WJ53LT4:4:2417:19227:16540,LH00995:41:23WJ53LT4:4:2478:7690:10823,LH00995:41:23WJ53LT4:5:1166:16104:25115,LH00995:41:23WJ53LT4:5:1166:16120:25115,LH00995:41:23WJ53LT4:5:1175:7343:13751,LH00995:41:23WJ53LT4:5:1294:25052:10150,LH00995:41:23WJ53LT4:5:1294:25060:10136,LH00995:41:23WJ53LT4:5:1318:21735:26096,LH00995:41:23WJ53LT4:5:1453:41151:16091,LH00995:41:23WJ53LT4:5:1453:41159:16077,LH00995:41:23WJ53LT4:5:2270:32147:16161,LH00995:41:23WJ53LT4:5:2343:34954:22873,LH00995:41:23WJ53LT4:5:2379:37462:17661,LH00995:41:23WJ53LT4:5:2402:22155:13121,LH00995:41:23WJ53LT4:5:2450:8742:3732,LH00995:41:23WJ53LT4:5:2477:25674:22775,LH00995:41:23WJ53LT4:5:2482:21767:22173,LH00995:41:23WJ53LT4:6:1134:51190:19692,LH00995:41:23WJ53LT4:1:1148:48771:3676,LH00995:41:23WJ53LT4:1:1148:48780:3662,LH00995:41:23WJ53LT4:1:1401:42510:5806,LH00995:41:23WJ53LT4:1:1401:42526:5806,LH00995:41:23WJ53LT4:1:2110:24841:20996,LH00995:41:23WJ53LT4:1:2236:33400:5554,LH00995:41:23WJ53LT4:2:1326:39897:14592,LH00995:41:23WJ53LT4:2:1357:32405:25381,LH00995:41:23WJ53LT4:2:1357:32413:25367,LH00995:41:23WJ53LT4:2:2164:46037:3312,LH00995:41:23WJ53LT4:2:2231:45956:14774,LH00995:41:23WJ53LT4:4:1216:50576:15124,LH00995:41:23WJ53LT4:4:1216:50584:15110,LH00995:41:23WJ53LT4:4:2147:8378:13359,LH00995:41:23WJ53LT4:4:2147:8386:13345,LH00995:41:23WJ53LT4:4:2147:8394:13359,LH00995:41:23WJ53LT4:4:2147:8402:13345,LH00995:41:23WJ53LT4:4:2249:16759:12070,LH00995:41:23WJ53LT4:5:1358:32907:4671,LH00995:41:23WJ53LT4:5:1358:32923:4671,LH00995:41:23WJ53LT4:5:1358:32939:4671,LH00995:41:23WJ53LT4:6:1119:31653:7992

STX16

NPEPL1

+/+

chr20:58671297

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

3066

399

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

duplicates(1)

CATCAGTACCACTAATGGATGATGGAGACGATAACACTCTTTACCATCGG___GGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTC?ATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAA...CAGATTTTTGCTTTTAAATGACTCCTGGGTGGAGCTTCCCCAATGCATCGTCATTCCCTGACCCTTGCATCTGACCCTGTGGGTGGGACCCTCCGCCTCCACCATCCACTCAAGGCTCACCCCTGGCTCCTCCACCACCCGGCTCCTGCCC

SVPLMDDGDDNTLYHRGFTEDQLVLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQ|agyeeetqnnrsglwnymevteegtn

LH00995:41:23WJ53LT4:1:1123:20990:8805,LH00995:41:23WJ53LT4:4:1165:10109:18880,LH00995:41:23WJ53LT4:4:1165:10117:18866

STX16

NPEPL1

+/+

chr20:58652087

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

6359

399

low

in-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000355957.9

ENST00000525817.5

downstream

upstream

duplicates(3)

GGGTCGCAAAGGGTGAGACATGGCCACCAGGCGTTTAACCGACGCTTTCTTGTTGTTGCGGAATAATTCCATCCAAAACtGGCAGCTGTTAGCCGAGCAA|GCTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAG___CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCCAACCCCACGGACAGCTGTCCCCTCTACCTGAAC

MATRRLTDAFLLLRNNSIQNwQLLAEQ|agyeeetqnnrsglwnyMELWQAALSTLNPNPTDSCPLYL

LH00995:41:23WJ53LT4:1:2191:3961:24989,LH00995:41:23WJ53LT4:1:2320:1283:17520,LH00995:41:23WJ53LT4:5:1120:19267:5652,LH00995:41:23WJ53LT4:5:2438:17682:7474

STX16

NPEPL1

+/+

chr20:58673711

chr20:58693737

CDS/splice-site

deletion/read-through

2362

7667

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

TTTCGACACATCAGTACCACTAATGGATGATGGAcACGATAACACTCTTTACCATCGG___GGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATT...GAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|CTCTGGCAGGCTGCCCTGAGCACGCTCAACC

EIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|LWQAALSTLN

LH00995:41:23WJ53LT4:4:1147:29986:1322

TPTE2

MRPS31P2

-/-

chr13:19475573

chr13:19570288

CDS/splice-site

exon

duplication

229

high

out-of-frame

ENSG00000132958.17

ENSG00000232894.1

ENST00000382978.5

ENST00000451581.1

upstream

downstream

duplicates(71),mismatches(2)

CCCAGAGGCACGTATGAATGAAAG___TCCACAGACAAACGAATTTAAAGGAACAACCGAGGAGGCACCTGCGAAAGAAAG___CCCACACACAAGTGAATTTAAAGGAGCAGCCCTGGTGTCACCTATCAGTAAAAG___CAGCAAGATTAAGAAAATTGTGCATTCAATTGTATCATCCTTTGCATTTGG|AATTGAGTCCCTAAGTCCTGAGTTGGTGGCAGCTGCATCTGCTGTGGCAGATTCTCTCCCTTTTGACAAGCAAATAACCAAGTCAGAGCTGTTGAGGCAGCTCCAGCAGCATGAGGAAGAGTCAAGGGCACAGAGAGATGCAGAGAGAACTAAAATTAG___TTTCAGTAACGTAATA

MNESPQTNEFKGTTEEAPAKESPHTSEFKGAALVSPISKsSKIKKIVHSIVSSFAFg|ieslspelvaaasavadslpfdkqitksellrqlqqheeesraqrdaertkisfsnv

LH00995:41:23WJ53LT4:1:1132:45811:4629,LH00995:41:23WJ53LT4:1:1169:49144:12840,LH00995:41:23WJ53LT4:1:1178:51635:8777,LH00995:41:23WJ53LT4:1:1178:51643:8763,LH00995:41:23WJ53LT4:1:1240:25197:13261,LH00995:41:23WJ53LT4:1:1245:15708:27904,LH00995:41:23WJ53LT4:1:1381:27171:23658,LH00995:41:23WJ53LT4:1:1381:27187:23658,LH00995:41:23WJ53LT4:1:1417:13936:4713,LH00995:41:23WJ53LT4:1:1431:7626:12084,LH00995:41:23WJ53LT4:1:1449:39411:9968,LH00995:41:23WJ53LT4:1:2164:32923:19496,LH00995:41:23WJ53LT4:1:2164:32931:19482,LH00995:41:23WJ53LT4:1:2186:14737:18796,LH00995:41:23WJ53LT4:1:2240:2400:19454,LH00995:41:23WJ53LT4:1:2266:45131:14970,LH00995:41:23WJ53LT4:1:2269:7407:6717,LH00995:41:23WJ53LT4:1:2356:4066:18417,LH00995:41:23WJ53LT4:1:2366:31249:18698,LH00995:41:23WJ53LT4:1:2377:38772:22593,LH00995:41:23WJ53LT4:1:2377:38788:22593,LH00995:41:23WJ53LT4:1:2377:38805:22593,LH00995:41:23WJ53LT4:1:2405:14373:15811,LH00995:41:23WJ53LT4:1:2420:25108:3662,LH00995:41:23WJ53LT4:1:2467:2205:13933,LH00995:41:23WJ53LT4:1:2474:18644:10290,LH00995:41:23WJ53LT4:1:2474:18660:10290,LH00995:41:23WJ53LT4:1:2495:5417:28688,LH00995:41:23WJ53LT4:2:1127:20578:27735,LH00995:41:23WJ53LT4:2:1131:21621:22173,LH00995:41:23WJ53LT4:2:1137:22382:27693,LH00995:41:23WJ53LT4:2:1161:5506:22789,LH00995:41:23WJ53LT4:2:1177:1558:15531,LH00995:41:23WJ53LT4:2:1269:23733:15769,LH00995:41:23WJ53LT4:2:1277:39120:25185,LH00995:41:23WJ53LT4:2:1277:39136:25185,LH00995:41:23WJ53LT4:2:1288:2060:11187,LH00995:41:23WJ53LT4:2:1364:32098:7137,LH00995:41:23WJ53LT4:2:1364:35285:9968,LH00995:41:23WJ53LT4:2:1371:47501:28352,LH00995:41:23WJ53LT4:2:1483:25302:9491,LH00995:41:23WJ53LT4:2:2118:23968:19034,LH00995:41:23WJ53LT4:2:2154:30140:19524,LH00995:41:23WJ53LT4:2:2201:27956:14452,LH00995:41:23WJ53LT4:2:2244:3556:26222,LH00995:41:23WJ53LT4:2:2259:28150:26895,LH00995:41:23WJ53LT4:2:2279:51781:24106,LH00995:41:23WJ53LT4:2:2313:24566:8272,LH00995:41:23WJ53LT4:2:2419:16201:28842,LH00995:41:23WJ53LT4:2:2450:33303:13597,LH00995:41:23WJ53LT4:3:1122:37413:17380,LH00995:41:23WJ53LT4:3:1154:34865:22159,LH00995:41:23WJ53LT4:3:1178:31604:28730,LH00995:41:23WJ53LT4:3:1202:10101:9674,LH00995:41:23WJ53LT4:3:1304:7844:25073,LH00995:41:23WJ53LT4:3:1388:33716:23167,LH00995:41:23WJ53LT4:3:1393:43246:20785,LH00995:41:23WJ53LT4:3:2210:49386:22985,LH00995:41:23WJ53LT4:3:2387:27972:27848,LH00995:41:23WJ53LT4:3:2462:37567:16498,LH00995:41:23WJ53LT4:3:2462:37575:16484,LH00995:41:23WJ53LT4:4:1144:23838:21024,LH00995:41:23WJ53LT4:4:1144:23846:21038,LH00995:41:23WJ53LT4:4:1321:6938:28016,LH00995:41:23WJ53LT4:4:1321:6946:28030,LH00995:41:23WJ53LT4:4:1336:47679:6128,LH00995:41:23WJ53LT4:4:1395:19793:12476,LH00995:41:23WJ53LT4:4:1396:14761:8020,LH00995:41:23WJ53LT4:4:1470:21694:9099,LH00995:41:23WJ53LT4:4:1470:21702:9113,LH00995:41:23WJ53LT4:4:1487:34946:3634,LH00995:41:23WJ53LT4:4:2172:42720:14242,LH00995:41:23WJ53LT4:4:2205:6113:19776,LH00995:41:23WJ53LT4:4:2220:38748:26530,LH00995:41:23WJ53LT4:4:2254:29331:21066,LH00995:41:23WJ53LT4:4:2297:42437:23280,LH00995:41:23WJ53LT4:4:2308:21694:9407,LH00995:41:23WJ53LT4:4:2331:51158:28969,LH00995:41:23WJ53LT4:4:2383:15109:13779,LH00995:41:23WJ53LT4:4:2387:52121:4321,LH00995:41:23WJ53LT4:4:2387:52129:4307,LH00995:41:23WJ53LT4:4:2437:4422:11243,LH00995:41:23WJ53LT4:4:2457:7820:26572,LH00995:41:23WJ53LT4:4:2457:7828:26558,LH00995:41:23WJ53LT4:5:1339:33328:28408,LH00995:41:23WJ53LT4:5:1379:21160:19272,LH00995:41:23WJ53LT4:5:1379:21168:19258,LH00995:41:23WJ53LT4:5:1395:18636:9099,LH00995:41:23WJ53LT4:5:1470:41078:17058,LH00995:41:23WJ53LT4:5:2108:7885:2864,LH00995:41:23WJ53LT4:5:2108:7893:2850,LH00995:41:23WJ53LT4:5:2139:29525:8903,LH00995:41:23WJ53LT4:5:2139:29542:8903,LH00995:41:23WJ53LT4:5:2160:50810:9730,LH00995:41:23WJ53LT4:5:2160:50826:9730,LH00995:41:23WJ53LT4:5:2160:50842:9730,LH00995:41:23WJ53LT4:5:2230:49079:12336,LH00995:41:23WJ53LT4:5:2257:27543:1771,LH00995:41:23WJ53LT4:5:2257:27551:1785,LH00995:41:23WJ53LT4:5:2369:7399:28926,LH00995:41:23WJ53LT4:5:2429:29137:6829,LH00995:41:23WJ53LT4:5:2429:34727:18529,LH00995:41:23WJ53LT4:6:1101:41474:26713,LH00995:41:23WJ53LT4:2:1370:32446:8525,LH00995:41:23WJ53LT4:2:1370:32462:8525,LH00995:41:23WJ53LT4:2:1370:32470:8539,LH00995:41:23WJ53LT4:2:2426:10457:1098,LH00995:41:23WJ53LT4:3:2281:39970:25087,LH00995:41:23WJ53LT4:3:2281:39978:25073,LH00995:41:23WJ53LT4:3:2281:39978:25101,LH00995:41:23WJ53LT4:4:1486:37065:7502,LH00995:41:23WJ53LT4:4:2173:31791:26390,LH00995:41:23WJ53LT4:5:1249:41490:25816,LH00995:41:23WJ53LT4:5:1456:6712:19300,LH00995:41:23WJ53LT4:5:2395:11388:25437,LH00995:41:23WJ53LT4:4:1262:37009:28478,LH00995:41:23WJ53LT4:4:1262:37017:28492,LH00995:41:23WJ53LT4:5:2115:26799:23434,LH00995:41:23WJ53LT4:5:2115:26807:23420

SMU1

FAM205C

-/-

chr9:33056113

chr9:34889635

CDS/splice-site

duplication

642

high

out-of-frame

LisH-like_dimerisation_domain(100%),WD_domain__G-beta_repeat(76%)|Domain_of_unknown_function_(DUF4599)(4%)

ENSG00000122692.9

ENSG00000187791.13

ENST00000397149.4

ENST00000603640.6

upstream

downstream

duplicates(20)

CTTCTTTTGACCAGACAATTAG___AATTCATGGTTTAAAATgTGGGAAAACCCTGAAGGAATTTCGTGGCCATTCCTCCTTTGTTAACGAAGCAACATTTACACAAGATGGACATTACATTATTAGTGCATCCTCTGATGGCACTGTAAAG|AAGCTCCAGAAGTTGGCTTGGATAACAAGATGAAGCTGTTTCTGCACTGGATTAACCCTGAAATGAAAGATCGAAGGCATGAGGAATCCATTCTCCTTTCTAAGGCTGAGACAGTGACCCAAGACAGGACAAAAAACATTGAGAAGAGTCCAACTGTCACCAAAGATCATGTGTGGGGAGCTACAACACAGAAGA

SFDQTIRIHGLKcGKTLKEFRGHSSFVNEATFTQDGHYIISASSDGTVK|klqklawitr*

LH00995:41:23WJ53LT4:1:1380:38368:21808,LH00995:41:23WJ53LT4:1:1381:37081:1392,LH00995:41:23WJ53LT4:1:1428:50139:9576,LH00995:41:23WJ53LT4:1:2386:51393:10626,LH00995:41:23WJ53LT4:2:1216:1073:17549,LH00995:41:23WJ53LT4:2:1216:3613:17885,LH00995:41:23WJ53LT4:2:1216:3621:17899,LH00995:41:23WJ53LT4:4:1125:14931:21738,LH00995:41:23WJ53LT4:5:1192:14583:19202,LH00995:41:23WJ53LT4:5:1192:14599:19202,LH00995:41:23WJ53LT4:5:2348:27090:15335,LH00995:41:23WJ53LT4:6:1127:10255:28800,LH00995:41:23WJ53LT4:1:1121:14502:28870,LH00995:41:23WJ53LT4:1:1173:47081:27427,LH00995:41:23WJ53LT4:1:1259:48998:22789,LH00995:41:23WJ53LT4:1:1268:38594:8637,LH00995:41:23WJ53LT4:1:1371:38643:17773,LH00995:41:23WJ53LT4:1:2159:25294:8665,LH00995:41:23WJ53LT4:1:2203:10190:25493,LH00995:41:23WJ53LT4:2:1334:29137:7782,LH00995:41:23WJ53LT4:2:1334:29153:7782,LH00995:41:23WJ53LT4:2:1349:4001:9870,LH00995:41:23WJ53LT4:2:2166:26176:2429,LH00995:41:23WJ53LT4:3:1177:7504:1448,LH00995:41:23WJ53LT4:3:1416:8694:19174,LH00995:41:23WJ53LT4:3:2142:21929:12252,LH00995:41:23WJ53LT4:3:2142:21945:12252,LH00995:41:23WJ53LT4:3:2402:31588:7572,LH00995:41:23WJ53LT4:5:1250:5579:2738,LH00995:41:23WJ53LT4:5:1343:11695:4839,LH00995:41:23WJ53LT4:5:2124:2553:6997,LH00995:41:23WJ53LT4:5:2274:5579:5092,LH00995:41:23WJ53LT4:6:1201:14510:6717,LH00995:41:23WJ53LT4:2:2395:21969:7278,LH00995:41:23WJ53LT4:2:2395:21985:7278,LH00995:41:23WJ53LT4:4:1417:19720:7053,LH00995:41:23WJ53LT4:5:1263:8791:7740,LH00995:41:23WJ53LT4:5:1263:8799:7726

SMU1

FAM205C

-/-

chr9:33056837

chr9:34889635

CDS/splice-site

duplication

1179

high

out-of-frame

LisH-like_dimerisation_domain(100%),WD_domain__G-beta_repeat(55%)|Domain_of_unknown_function_(DUF4599)(4%)

ENSG00000122692.9

ENSG00000187791.13

ENST00000397149.4

ENST00000603640.6

upstream

downstream

duplicates(3),mismatches(1)

GGATGATGCTGTCCTCTGCATGTGTTTCAGCAGAGATACAGAAATGTTAGCAACTGGGGCCCAAGATGGAAAAATCAAG___GTGTGGAAGATTCAGAGTGGACAATGTTTAAGGAGATTTGAGAGGGCACACAGTAAGGGTGTCACCTGTCTAAGCTTTTCTAAGGATAGCAGTCAGATCCTTAGTGCTTCTTTTGACCAGACAATTAG|AAGCTCCAGAAGTTGGCTTGGATAACAAGATGAAGCTGTTTCTGCACTGGATTAACCCTGAAATGAAAGATCGAAGGCATGAGGAATCCATTCTCCTTTCTAAGGCTGAGACAGTGACCCAAGACAGGACAAAAAACATTGAGAAGAGTCCAACTGTCACCAAAGATCATGTGTGGGGAGCTACAACACAGAAGACAACA

DDAVLCMCFSRDTEMLATGAQDGKIKVWKIQSGQCLRRFERAHSKGVTCLSFSKDSSQILSASFDQTIr|ssrswlg*

LH00995:41:23WJ53LT4:1:1472:43578:3985,LH00995:41:23WJ53LT4:3:2373:43408:12238,LH00995:41:23WJ53LT4:5:2105:31637:16063,LH00995:41:23WJ53LT4:5:2125:44735:4167,LH00995:41:23WJ53LT4:1:1114:12318:21976,LH00995:41:23WJ53LT4:1:1136:43319:3508,LH00995:41:23WJ53LT4:1:2394:46579:8735,LH00995:41:23WJ53LT4:2:1258:33934:9309,LH00995:41:23WJ53LT4:2:2248:11040:18698,LH00995:41:23WJ53LT4:3:1186:11274:12210,LH00995:41:23WJ53LT4:4:1416:3662:26516,LH00995:41:23WJ53LT4:4:1416:3678:26516,LH00995:41:23WJ53LT4:5:2406:45374:5806

SMU1

FAM205C

-/-

chr9:33056837

chr9:34889632

CDS/splice-site

duplication

1179

medium

out-of-frame

LisH-like_dimerisation_domain(100%),WD_domain__G-beta_repeat(55%)|Domain_of_unknown_function_(DUF4599)(3%)

ENSG00000122692.9

ENSG00000187791.13

ENST00000397149.4

ENST00000340783.11

upstream

downstream

duplicates(1)

GTTTAAGGAGATTTGAGAGGGCACACAGTAAGGGTGTCACCTGTCTAAGCTTTTCTAAGGATAGCAGTCAGATCCTTAGTGCTTCTTTTGACCAGACAATTAG|CTCCAGAAGTTGGCTTGGATAACAAGATGAAGCTGTTTCTGCACTGGATTAACCCTGAAATGAAAGATCGAAGGCATGAGGAATCCATTCTCCTTTCTAAGGCTGAGACAGTGACCCAAGACAGGACAAAAAACATTGAGAAGAGTCCAACTGTCACCAAAGATCATGTGTGGGGAGCTACAACACAG

LRRFERAHSKGVTCLSFSKDSSQILSASFDQTIs|srswlg*

LH00995:41:23WJ53LT4:4:1380:35860:8469,LH00995:41:23WJ53LT4:5:1424:25893:18137,LH00995:41:23WJ53LT4:2:1249:8427:20673

KLRC4

KLRK1

-/-

chr12:10407636

chr12:10388875

3'UTR

5'UTR/splice-site

deletion/read-through

149

236

high

stop-codon

|Lectin_C-type_domain(100%)

ENSG00000183542.5

ENSG00000213809.9

ENST00000309384.2

ENST00000396451.4

upstream

downstream

duplicates(11)

GCAGAACAgTTTTTCCCTGAATAGAAGAATGCAGAAAG___CACGTCATTGTGGCCATTGTCCTGAGGAGTGGATTACATATTCCAACAGTTGTTATTACATTGGTAAGGAAAGAAGAACTTGGGAAGAAAGAGTTTGCTGGCCTGTGCTTCGAAGAACTCTGATCTGCTTTCTATAGATAATGAGGAAGAAATG|GAATCCTTTGTGCATTGAAGACTTTAGATTCCTCTCTGCGGTAGACGTGCACTTATAAGTATTTGATGGGGTGGATTCGTGGTCGGAGGTCTCGACACAGCTGGG___AGATGAGTGAATTTCATAATTATAACTTGGATCTGAAGAAGAGTGATTTTTCA

LH00995:41:23WJ53LT4:1:1385:52194:21430,LH00995:41:23WJ53LT4:2:2252:14769:13023,LH00995:41:23WJ53LT4:2:2424:16363:18950,LH00995:41:23WJ53LT4:4:2135:17261:16946,LH00995:41:23WJ53LT4:5:1433:52016:25578,LH00995:41:23WJ53LT4:5:2346:46595:12910,LH00995:41:23WJ53LT4:5:2405:38287:2331,LH00995:41:23WJ53LT4:1:1236:16153:19342,LH00995:41:23WJ53LT4:1:1410:41701:19342,LH00995:41:23WJ53LT4:1:2128:33829:3270,LH00995:41:23WJ53LT4:1:2128:33837:3256,LH00995:41:23WJ53LT4:1:2191:23862:6885,LH00995:41:23WJ53LT4:1:2419:47704:19790,LH00995:41:23WJ53LT4:2:1172:36280:17240,LH00995:41:23WJ53LT4:2:1172:36297:17240,LH00995:41:23WJ53LT4:3:1318:3249:10809,LH00995:41:23WJ53LT4:3:2137:22325:14396,LH00995:41:23WJ53LT4:4:1104:4568:10795,LH00995:41:23WJ53LT4:4:2218:23579:9758,LH00995:41:23WJ53LT4:4:2345:31871:3634,LH00995:41:23WJ53LT4:4:2345:31880:3620,LH00995:41:23WJ53LT4:4:2394:45600:27245,LH00995:41:23WJ53LT4:5:2140:46684:7712,LH00995:41:23WJ53LT4:6:1174:7391:24821,LH00995:41:23WJ53LT4:5:1449:23450:24807,LH00995:41:23WJ53LT4:5:2343:14203:11733,LH00995:41:23WJ53LT4:6:1207:38675:10094

PCDHA4

PCDHAC1

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

128

667

high

in-frame

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

ENSG00000204967.12

ENSG00000248383.5

ENST00000672575.1

ENST00000253807.3

downstream

upstream

duplicates(34),mismatches(2)

GGCCGAGGGTGTGCTCTGGTGAGGGCCCACCCAAGACCGACCTCATGGCCTTCAGCCCCAGTTTACCTGACTCTAGGGACAGAGAAGATCAGCTGCAGACAACTGAGGAATCCTTTGCAAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGC

PRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGP

LH00995:41:23WJ53LT4:1:1357:48812:5680,LH00995:41:23WJ53LT4:1:1357:48828:5680,LH00995:41:23WJ53LT4:1:1357:48836:5694,LH00995:41:23WJ53LT4:1:1357:48844:5708,LH00995:41:23WJ53LT4:1:1357:48860:5708,LH00995:41:23WJ53LT4:2:1152:16784:26124,LH00995:41:23WJ53LT4:3:2446:13637:19272,LH00995:41:23WJ53LT4:4:1293:41523:19370,LH00995:41:23WJ53LT4:4:1306:14243:9365,LH00995:41:23WJ53LT4:4:1488:25610:27763,LH00995:41:23WJ53LT4:4:2108:18474:5456,LH00995:41:23WJ53LT4:4:2128:25683:4545,LH00995:41:23WJ53LT4:4:2128:25699:4545,LH00995:41:23WJ53LT4:4:2139:5959:5470,LH00995:41:23WJ53LT4:5:1149:4746:11299,LH00995:41:23WJ53LT4:5:1390:48213:3522,LH00995:41:23WJ53LT4:5:2122:38619:2597,LH00995:41:23WJ53LT4:6:1204:23854:22145,LH00995:41:23WJ53LT4:1:1225:28077:20939,LH00995:41:23WJ53LT4:1:1288:6153:3452,LH00995:41:23WJ53LT4:1:1288:6161:3466,LH00995:41:23WJ53LT4:1:1350:7933:12924,LH00995:41:23WJ53LT4:1:1415:34557:8595,LH00995:41:23WJ53LT4:1:2262:16282:28590,LH00995:41:23WJ53LT4:2:1343:50244:16428,LH00995:41:23WJ53LT4:2:2116:43197:5736,LH00995:41:23WJ53LT4:2:2236:19793:6311,LH00995:41:23WJ53LT4:2:2252:10093:15881,LH00995:41:23WJ53LT4:2:2409:24574:3999,LH00995:41:23WJ53LT4:2:2437:31952:9267,LH00995:41:23WJ53LT4:3:1297:50608:20421,LH00995:41:23WJ53LT4:3:1381:42283:26965,LH00995:41:23WJ53LT4:3:1476:6906:3915,LH00995:41:23WJ53LT4:3:2366:35237:9996,LH00995:41:23WJ53LT4:3:2389:15829:16484,LH00995:41:23WJ53LT4:3:2465:22754:3032,LH00995:41:23WJ53LT4:4:1298:33473:2738,LH00995:41:23WJ53LT4:4:1354:50559:19664,LH00995:41:23WJ53LT4:4:1356:2934:28114,LH00995:41:23WJ53LT4:4:1381:11986:7025,LH00995:41:23WJ53LT4:4:1398:44443:7278,LH00995:41:23WJ53LT4:4:1464:39241:26544,LH00995:41:23WJ53LT4:4:1464:39258:26544,LH00995:41:23WJ53LT4:4:1464:39266:26558,LH00995:41:23WJ53LT4:4:2318:9543:8427,LH00995:41:23WJ53LT4:4:2417:11242:27511,LH00995:41:23WJ53LT4:4:2467:14567:15279,LH00995:41:23WJ53LT4:5:2131:32413:4405,LH00995:41:23WJ53LT4:5:2148:21403:9772,LH00995:41:23WJ53LT4:5:2418:2391:4419,LH00995:41:23WJ53LT4:5:2419:19809:20911

PCDHA4

PCDHAC2

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

128

667

high

in-frame

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

ENSG00000204967.12

ENSG00000243232.6

ENST00000672575.1

ENST00000289269.7

downstream

upstream

duplicates(34),mismatches(2)

PRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGP

PCDHA4

PCDHA13

+/+

chr5:140809572

chr5:140978949

CDS/splice-site

deletion/read-through

128

667

high

in-frame

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

ENSG00000204967.12

ENSG00000239389.8

ENST00000672575.1

ENST00000289272.3

downstream

upstream

duplicates(34),mismatches(2)

PRVCSGEGPPKTDLMAFSPSLPDSRDREDQLQTTEESFAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGP

PCDHA11

PCDHAC1

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

171

667

high

in-frame

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

ENSG00000249158.7

ENSG00000248383.5

ENST00000616325.1

ENST00000253807.3

downstream

upstream

duplicates(50)

TCACGCTGCTGCTGTATACGGCGCTGTGGTGGTCGGCAACGCCCACTGAGGGCGCGTGCGCGCCGGGGAAGCCCACGCTGGTGTGCTCCCGCGCGGTGGGGAGCTGGTCATACTCGCAGCAGAGGCGGCAGAGGGTGTGCTCTGAGGAGGGCCCACCTAAGACGGACCTCATGGCCTTCAGCCCCAGTCTTCCTCTAGGTCTGAATAAAGAGGAGGAAGGGGAAAGACAGGAGCCAGGGTCAAATCACCCCGGACAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGcCCC

TLLLYTALWWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVp

LH00995:41:23WJ53LT4:1:1430:18855:6395,LH00995:41:23WJ53LT4:1:1430:26953:20729,LH00995:41:23WJ53LT4:1:1430:26961:20743,LH00995:41:23WJ53LT4:1:2102:32834:9309,LH00995:41:23WJ53LT4:1:2439:3767:15489,LH00995:41:23WJ53LT4:1:2439:3775:15475,LH00995:41:23WJ53LT4:1:2439:3783:15461,LH00995:41:23WJ53LT4:2:2117:33748:14620,LH00995:41:23WJ53LT4:2:2117:33756:14634,LH00995:41:23WJ53LT4:2:2270:39250:2009,LH00995:41:23WJ53LT4:2:2365:9826:15419,LH00995:41:23WJ53LT4:2:2423:15028:19889,LH00995:41:23WJ53LT4:2:2457:19478:2934,LH00995:41:23WJ53LT4:3:1261:20133:24246,LH00995:41:23WJ53LT4:3:1261:20141:24232,LH00995:41:23WJ53LT4:3:1261:20149:24218,LH00995:41:23WJ53LT4:3:1261:20165:24218,LH00995:41:23WJ53LT4:4:1102:40067:17352,LH00995:41:23WJ53LT4:4:1102:40083:17352,LH00995:41:23WJ53LT4:4:1102:40099:17352,LH00995:41:23WJ53LT4:4:1169:27721:2331,LH00995:41:23WJ53LT4:4:1169:27729:2317,LH00995:41:23WJ53LT4:4:1169:31402:27063,LH00995:41:23WJ53LT4:4:1169:31410:27049,LH00995:41:23WJ53LT4:4:1234:43068:20197,LH00995:41:23WJ53LT4:4:1346:26378:3788,LH00995:41:23WJ53LT4:4:2263:25513:28324,LH00995:41:23WJ53LT4:4:2263:25521:28282,LH00995:41:23WJ53LT4:4:2263:25521:28310,LH00995:41:23WJ53LT4:4:2263:25529:28296,LH00995:41:23WJ53LT4:4:2263:25537:28282,LH00995:41:23WJ53LT4:4:2364:15821:19720,LH00995:41:23WJ53LT4:5:1190:43659:13485,LH00995:41:23WJ53LT4:5:2332:36014:13079,LH00995:41:23WJ53LT4:5:2402:37850:26741,LH00995:41:23WJ53LT4:5:2472:24922:10907,LH00995:41:23WJ53LT4:6:1189:7925:5988,LH00995:41:23WJ53LT4:1:2380:24566:17633,LH00995:41:23WJ53LT4:2:1158:18402:26124,LH00995:41:23WJ53LT4:2:1158:18410:26110,LH00995:41:23WJ53LT4:2:1158:18418:26096,LH00995:41:23WJ53LT4:2:1158:18418:26124,LH00995:41:23WJ53LT4:2:2231:46967:9744,LH00995:41:23WJ53LT4:2:2267:51328:22229,LH00995:41:23WJ53LT4:2:2371:13887:5638,LH00995:41:23WJ53LT4:2:2481:44921:3901,LH00995:41:23WJ53LT4:3:1176:51571:2836,LH00995:41:23WJ53LT4:3:1255:10999:23223,LH00995:41:23WJ53LT4:3:2254:14235:16582,LH00995:41:23WJ53LT4:3:2266:42631:21290,LH00995:41:23WJ53LT4:3:2273:40325:28170,LH00995:41:23WJ53LT4:3:2273:50478:15152,LH00995:41:23WJ53LT4:3:2293:15052:21108,LH00995:41:23WJ53LT4:4:1240:27074:6619,LH00995:41:23WJ53LT4:4:1456:5967:4699,LH00995:41:23WJ53LT4:4:2191:10004:21136,LH00995:41:23WJ53LT4:5:1415:39039:23195,LH00995:41:23WJ53LT4:5:2366:31313:27217,LH00995:41:23WJ53LT4:5:2380:41863:13989,LH00995:41:23WJ53LT4:5:2401:51053:27217

PCDHA11

PCDHAC2

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

171

667

high

in-frame

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

ENSG00000249158.7

ENSG00000243232.6

ENST00000616325.1

ENST00000289269.7

downstream

upstream

duplicates(50)

TLLLYTALWWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVp

PCDHA11

PCDHA13

+/+

chr5:140871494

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

171

667

high

in-frame

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

ENSG00000249158.7

ENSG00000239389.8

ENST00000616325.1

ENST00000289272.3

downstream

upstream

duplicates(50)

TLLLYTALWWSATPTEGACAPGKPTLVCSRAVGSWSYSQQRRQRVCSEEGPPKTDLMAFSPSLPLGLNKEEEGERQEPGSNHPGQ|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVp

TLK2

FAM157A

+/+

chr17:62560126

chr3:198180755

CDS/splice-site

exon/splice-site

translocation

1153

453

high

out-of-frame

ENSG00000146872.18

ENSG00000236438.7

ENST00000582809.5

ENST00000634862.1

downstream

upstream

duplicates(7),mismatches(1),multimappers(6)

GCCAACTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAAACTCAgCTGCCTCTGTCCCTCTGGGCACGCCTCATGCCAGGTGCATCTGTGGACAGGGGCCATGCTCCTGGGCTTCCAAAGTTGGAGAAAGCTGCCAGGCTCAG___GTCTGAAGGCCAGAAT

ANCDLRRQIDEQQKMLEKYKEqLNRCVTMSKKLLIEK|mmiiphllrdkdqrattatgprtrqcwgtenegvqlwpsqssggdetqlplslwarlmpgasvdrghapglpklekaarlrsegq

LH00995:41:23WJ53LT4:1:1122:9317:3494,LH00995:41:23WJ53LT4:1:1155:47679:25465,LH00995:41:23WJ53LT4:1:1234:14624:11117,LH00995:41:23WJ53LT4:1:1234:14632:11131,LH00995:41:23WJ53LT4:1:2150:48011:17128,LH00995:41:23WJ53LT4:1:2150:48027:17128,LH00995:41:23WJ53LT4:1:2297:18822:14298,LH00995:41:23WJ53LT4:1:2437:26775:27595,LH00995:41:23WJ53LT4:3:2425:30302:2625,LH00995:41:23WJ53LT4:3:2425:30318:2625,LH00995:41:23WJ53LT4:4:1362:43893:6689,LH00995:41:23WJ53LT4:4:1362:43901:6703,LH00995:41:23WJ53LT4:4:2275:5441:8889,LH00995:41:23WJ53LT4:4:2292:35876:15867,LH00995:41:23WJ53LT4:4:2307:13103:8202,LH00995:41:23WJ53LT4:5:1123:11517:16974,LH00995:41:23WJ53LT4:5:1207:22956:21290,LH00995:41:23WJ53LT4:5:1433:45819:21290,LH00995:41:23WJ53LT4:5:2156:46846:9674,LH00995:41:23WJ53LT4:2:1325:26581:15321

EFL1

GOLGA6L11P

-/-

+/+

chr15:82214717

chrY:24169914

CDS/splice-site

exon/splice-site

translocation

800

high

out-of-frame

Elongation_factor_Tu_GTP_binding_domain(100%)|

ENSG00000140598.15

ENSG00000223698.3

ENST00000268206.12

ENST00000417252.2

upstream

duplicates(3),mismatches(1)

GTGGTGTGGCTCGAAGAGGAAAGAAAATTTTTGTCTTGGGGCCCAAATACAGTCCTCTTGAGTTTTTACGAAGG___GTACCATTAGGCTTCTCAGCTCCACCAGATGGCCTCCCCCAAGTCCCCCACATGGCATACTGTGCTCTGGAAAACCTGTATCTTCTGATGGGAAGGGAACTGGAATATCTAGAGGAGGTACCTCCAGGAAATGTGCTAG|TTAAAAGAATATTGGCAGAGGAAGAGCCCTGGCATTCCAGAAGGAGCTAACAGGAAAAAGAAAATCAATGGCAGTAGCCCTGACACAGCCACTTCTGGTGGTTACCACTCACCcGG

GVARRGKKIFVLGPKYSPLEFLRRVPLGFSAPPDGLPQVPHMAYCALENLYLLMGRELEYLEEVPPGNVL|vkrilaeeepwhsrrs*

LH00995:41:23WJ53LT4:1:2204:49224:29235,LH00995:41:23WJ53LT4:1:2405:35180:14774,LH00995:41:23WJ53LT4:3:1357:34881:25550,LH00995:41:23WJ53LT4:3:1357:34889:25564,LH00995:41:23WJ53LT4:3:2323:50770:14452,LH00995:41:23WJ53LT4:4:2214:47647:23083,LH00995:41:23WJ53LT4:5:1323:48545:1883,LH00995:41:23WJ53LT4:3:2314:29461:29697,LH00995:41:23WJ53LT4:5:1372:37219:27245

TRAP1

-/-

chr16:3664411

chr16:3664413

CDS

duplication/ITD

170

100

1059

1232

medium

in-frame

Histidine_kinase-__DNA_gyrase_B-__and_HSP90-like_ATPase(100%),Hsp90_protein(45%)|Hsp90_protein(54%)

ENSG00000126602.11

ENST00000246957.10

upstream

downstream

duplicates(138)

GCTGAGAAGTATGCAAAGTTTTTTGAAGATTACGGCCTGTTCATGCGGGAGGGCATTGTGACCGCCACCGAGCAGGAGGTCAAG___GAGGACATAGCAAAGCTGCTGCGCTACGAGTCCTCGGCGCTGCCCTCCG|CCGGGCAGCTAACCAGCCTCTCAGAATACGCCAGCCGCATGCGGGCCGGCACCCGCAACATCTACTACCTGTGCGCCCCCAACCGTCACCTGGCAGAGCACTCACCCTACTATGAGG

AEKYAKFFEDYGLFMREGIVTATEQEVKEDIAKLLRYESSALPS|aGQLTSLSEYASRMRAGTRNIYYLCAPNRHLAEHSPYYE

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LT4:5:1424:9721:24765,LH00995:41:23WJ53LT4:5:1491:34023:3662,LH00995:41:23WJ53LT4:5:1495:29113:2219,LH00995:41:23WJ53LT4:5:1498:26289:2625,LH00995:41:23WJ53LT4:5:2106:24113:23378,LH00995:41:23WJ53LT4:5:2119:40997:4643,LH00995:41:23WJ53LT4:5:2165:38853:11215,LH00995:41:23WJ53LT4:5:2178:49136:8006,LH00995:41:23WJ53LT4:5:2181:5927:10542,LH00995:41:23WJ53LT4:5:2198:44864:7950,LH00995:41:23WJ53LT4:5:2219:4503:8497,LH00995:41:23WJ53LT4:5:2236:9130:28338,LH00995:41:23WJ53LT4:5:2240:2084:9519,LH00995:41:23WJ53LT4:5:2277:3111:6395,LH00995:41:23WJ53LT4:5:2304:2302:16063,LH00995:41:23WJ53LT4:5:2328:7868:15110,LH00995:41:23WJ53LT4:5:2359:39808:27413,LH00995:41:23WJ53LT4:5:2370:25707:17114,LH00995:41:23WJ53LT4:5:2380:26783:20323,LH00995:41:23WJ53LT4:6:1102:39978:2037,LH00995:41:23WJ53LT4:6:1139:8200:12910,LH00995:41:23WJ53LT4:6:1149:26055:2808,LH00995:41:23WJ53LT4:6:1149:32753:24190,LH00995:41:23WJ53LT4:6:1155:11922:22383,LH00995:41:23WJ53LT4:6:1158:13240:22117,LH00995:41:23WJ53LT4:6:1161:22681:1448,LH00995:41:23WJ53LT4:6:1203:14648:16203,LH00995:41:23WJ53LT4:6:1210:47566:9688,LH00995:41:23WJ53LT4:6:1236:39403:4013

IGH@-ext

FP236383.3

-/-

+/+

chr14:105707156

chr21:8399952

exon

intron

translocation

119

65535

6421

medium

IGH.g@-ext

ENSG00000280441.3

IGH.t@-ext

upstream

duplicates(139),mismappers(39),mismatches(6)

CGGCAGGAGCCCAGCCAGGGCACCACCACCTTCGCTGTGACCAGCATACTGCGCGTGGCAGCCGAGGACTGGAAGAAGGGGGACACCTTCTCCTGCATGGTGGGCCACGAGGCCCTGCCGCTGGCCTTCACACAGAAGACCATCGACCGCTTGGCGGGTAAACCCACCCATGTCAATGTGTCTGTTGTCATGGCGGAGGTGGACGGCACCTGCTACTGAGCCGCCCGCCTG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

LH00995:41:23WJ53LT4:1:1103:30779:20435,LH00995:41:23WJ53LT4:1:1129:13831:4195,LH00995:41:23WJ53LT4:1:1143:3937:1182,LH00995:41:23WJ53LT4:1:1149:51344:9057,LH00995:41:23WJ53LT4:1:1185:31621:21360,LH00995:41:23WJ53LT4:1:1215:7205:4713,LH00995:41:23WJ53LT4:1:1217:13394:19748,LH00995:41:23WJ53LT4:1:1220:38716:22887,LH00995:41:23WJ53LT4:1:1250:48213:20897,LH00995:41:23WJ53LT4:1:1250:48221:20911,LH00995:41:23WJ53LT4:1:1255:24243:27749,LH00995:41:23WJ53LT4:1:1278:42494:27721,LH00995:41:23WJ53LT4:1:1285:38141:27133,LH00995:41:23WJ53LT4:1:1311:9907:10711,LH00995:41:23WJ53LT4:1:1314:47081:18599,LH00995:41:23WJ53LT4:1:1316:3160:10598,LH00995:41:23WJ53LT4:1:1316:3176:10598,LH00995:41:23WJ53LT4:1:1325:39565:8413,LH00995:41:23WJ53LT4:1:1354:33320:25788,LH00995:41:23WJ53LT4:1:1359:46579:25634,LH00995:41:23WJ53LT4:1:1364:6995:11439,LH00995:41:23WJ53LT4:1:1364:7003:11453,LH00995:41:23WJ53LT4:1:1364:7011:11439,LH00995:41:23WJ53LT4:1:1367:39282:1476,LH00995:41:23WJ53LT4:1:1377:45738:18151,LH00995:41:23WJ53LT4:1:1379:35585:19454,LH00995:41:23WJ53LT4:1:1379:48181:4363,LH00995:41:23WJ53LT4:1:1385:46045:11874,LH00995:41:23WJ53LT4:1:1398:14373:14410,LH00995:41:23WJ53LT4:1:1409:28813:27539,LH00995:41:23WJ53LT4:1:1409:28822:27525,LH00995:41:23WJ53LT4:1:1430:35043:29249,LH00995:41:23WJ53LT4:1:1451:22406:16638,LH00995:41:23WJ53LT4:1:1460:42024:1771,LH00995:41:23WJ53LT4:1:1463:44880:5428,LH00995:41:23WJ53LT4:1:1485:25456:19622,LH00995:41:23WJ53LT4:1:1486:37907:10640,LH00995:41:23WJ53LT4:1:2117:28765:28268,LH00995:41:23WJ53LT4:1:2123:36766:13345,LH00995:41:23WJ53LT4:1:2123:36774:13359,LH00995:41:23WJ53LT4:1:2124:17390:18123,LH00995:41:23WJ53LT4:1:2136:9074:29557,LH00995:41:23WJ53LT4:1:2141:22026:29263,LH00995:41:23WJ53LT4:1:2144:47962:4909,LH00995:41:23WJ53LT4:1:2146:51910:1883,LH00995:41:23WJ53LT4:1:2148:33142:9057,LH00995:41:23WJ53LT4:1:2149:7998:11103,LH00995:41:23WJ53LT4:1:2159:45107:15405,LH00995:41:23WJ53LT4:1:2159:45115:15419,LH00995:41:23WJ53LT4:1:2167:17309:27848,LH00995:41:23WJ53LT4:1:2168:13839:20491,LH00995:41:23WJ53LT4:1:2168:13855:20491,LH00995:41:23WJ53LT4:1:2168:32632:24176,LH00995:41:23WJ53LT4:1:2185:23709:18025,LH00995:41:23WJ53LT4:1:2185:23709:18053,LH00995:41:23WJ53LT4:1:2185:23717:18039,LH00995:41:23WJ53LT4:1:2196:2311:6016,LH00995:41:23WJ53LT4:1:2201:44945:23111,LH00995:41:23WJ53LT4:1:2202:8241:24022,LH00995:41:23WJ53LT4:1:2237:6291:5876,LH00995:41:23WJ53LT4:1:2237:6307:5876,LH00995:41:23WJ53LT4:1:2237:6315:5862,LH00995:41:23WJ53LT4:1:2268:26912:13373,LH00995:41:23WJ53LT4:1:2271:27147:12770,LH00995:41:23WJ53LT4:1:2280:39557:8398,LH00995:41:23WJ53LT4:1:2289:30617:12981,LH00995:41:23WJ53LT4:1:2338:25610:6185,LH00995:41:23WJ53LT4:1:2371:8402:28366,LH00995:41:23WJ53LT4:1:2387:20578:28156,LH00995:41:23WJ53LT4:1:2420:19939:28870,LH00995:41:23WJ53LT4:1:2421:41159:26811,LH00995:41:23WJ53LT4:1:2432:48367:5386,LH00995:41:23WJ53LT4:1:2482:7925:10080,LH00995:41:23WJ53LT4:2:1109:22115:21234,LH00995:41:23WJ53LT4:2:1110:3678:21136,LH00995:41:23WJ53LT4:2:1116:11048:4671,LH00995:41:23WJ53LT4:2:1155:25772:21290,LH00995:41:23WJ53LT4:2:1158:44807:11916,LH00995:41:23WJ53LT4:2:1162:2618:4223,LH00995:41:23WJ53LT4:2:1168:51789:1504,LH00995:41:23WJ53LT4:2:1176:36475:12924,LH00995:41:23WJ53LT4:2:1176:47647:26642,LH00995:41:23WJ53LT4:2:1180:37033:20813,LH00995:41:23WJ53LT4:2:1180:37041:20799,LH00995:41:23WJ53LT4:2:1187:24493:5204,LH00995:41:23WJ53LT4:2:1189:22293:16217,LH00995:41:23WJ53LT4:2:1190:3743:23826,LH00995:41:23WJ53LT4:2:1192:27689:27777,LH00995:41:23WJ53LT4:2:1217:22374:3662,LH00995:41:23WJ53LT4:2:1242:32972:11481,LH00995:41:23WJ53LT4:2:1264:25772:8679,LH00995:41:23WJ53LT4:2:1272:24607:15377,LH00995:41:23WJ53LT4:2:1280:3904:11579,LH00995:41:23WJ53LT4:2:1282:31143:12938,LH00995:41:23WJ53LT4:2:1303:49419:6086,LH00995:41:23WJ53LT4:2:1313:14106:26278,LH00995:41:23WJ53LT4:2:1313:51538:17408,LH00995:41:23WJ53LT4:2:1313:51546:17394,LH00995:41:23WJ53LT4:2:1318:42647:16694,LH00995:41:23WJ53LT4:2:1350:22625:26236,LH00995:41:23WJ53LT4:2:1366:30156:26474,LH00995:41:23WJ53LT4:2:1391:39751:10977,LH00995:41:23WJ53LT4:2:1397:6663:12854,LH00995:41:23WJ53LT4:2:1420:5005:26993,LH00995:41:23WJ53LT4:2:1432:50357:5834,LH00995:41:23WJ53LT4:2:1459:35544:17983,LH00995:41:23WJ53LT4:2:1461:42825:23223,LH00995:41:23WJ53LT4:2:1477:11954:13527,LH00995:41:23WJ53LT4:2:1481:45568:5946,LH00995:41:23WJ53LT4:2:1486:48707:21388,LH00995:41:23WJ53LT4:2:2112:16144:23504,LH00995:41:23WJ53LT4:2:2142:3492:8286,LH00995:41:23WJ53LT4:2:2142:3500:8300,LH00995:41:23WJ53LT4:2:2147:4713:21864,LH00995:41:23WJ53LT4:2:2164:10093:12686,LH00995:41:23WJ53LT4:2:2180:29040:12658,LH00995:41:23WJ53LT4:2:2188:38327:20169,LH00995:41:23WJ53LT4:2:2188:38343:20169,LH00995:41:23WJ53LT4:2:2208:30124:25886,LH00995:41:23WJ53LT4:2:2230:27527:23434,LH00995:41:23WJ53LT4:2:2255:39727:19118,LH00995:41:23WJ53LT4:2:2256:48682:24569,LH00995:41:23WJ53LT4:2:2266:1647:23588,LH00995:41:23WJ53LT4:2:2266:1655:23602,LH00995:41:23WJ53LT4:2:2277:45811:16484,LH00995:41:23WJ53LT4:2:2277:45827:16484,LH00995:41:23WJ53LT4:2:2316:41393:6367,LH00995:41:23WJ53LT4:2:2317:44031:15447,LH00995:41:23WJ53LT4:2:2379:6914:17352,LH00995:41:23WJ53LT4:2:2384:23167:4895,LH00995:41:23WJ53LT4:2:2397:36094:20617,LH00995:41:23WJ53LT4:2:2429:35827:6591,LH00995:41:23WJ53LT4:2:2448:33109:15026,LH00995:41:23WJ53LT4:2:2466:27147:11145,LH00995:41:23WJ53LT4:2:2467:34193:13989,LH00995:41:23WJ53LT4:2:2477:51579:11453,LH00995:41:23WJ53LT4:3:1133:29768:14900,LH00995:41:23WJ53LT4:3:1133:49694:9449,LH00995:41:23WJ53LT4:3:1143:24453:29067,LH00995:41:23WJ53LT4:3:1143:24461:29053,LH00995:41:23WJ53LT4:3:1158:1987:3662,LH00995:41:23WJ53LT4:3:1182:28862:10753,LH00995:41:23WJ53LT4:3:1182:28878:10753,LH00995:41:23WJ53LT4:3:1182:40932:18936,LH00995:41:23WJ53LT4:3:1182:40940:18922,LH00995:41:23WJ53LT4:3:1195:40536:8356,LH00995:41:23WJ53LT4:3:1198:47890:3522,LH00995:41:23WJ53LT4:3:1198:47898:3536,LH00995:41:23WJ53LT4:3:1242:28061:7179,LH00995:41:23WJ53LT4:3:1259:24243:22004,LH00995:41:23WJ53LT4:3:1261:21096:23055,LH00995:41:23WJ53LT4:3:1261:21104:23069,LH00995:41:23WJ53LT4:3:1331:18693:22257,LH00995:41:23WJ53LT4:3:1341:49653:15265,LH00995:41:23WJ53LT4:3:1362:18798:14704,LH00995:41:23WJ53LT4:3:1362:18806:14690,LH00995:41:23WJ53LT4:3:1375:39670:3298,LH00995:41:23WJ53LT4:3:1407:21193:7081,LH00995:41:23WJ53LT4:3:1419:2618:1112,LH00995:41:23WJ53LT4:3:1450:38432:17016,LH00995:41:23WJ53LT4:3:1450:38441:17030,LH00995:41:23WJ53LT4:3:1461:41159:11649,LH00995:41:23WJ53LT4:3:1462:13968:25704,LH00995:41:23WJ53LT4:3:1492:48812:18263,LH00995:41:23WJ53LT4:3:2106:47809:15657,LH00995:41:23WJ53LT4:3:2185:27899:1967,LH00995:41:23WJ53LT4:3:2245:42162:7334,LH00995:41:23WJ53LT4:3:2275:5894:1238,LH00995:41:23WJ53LT4:3:2288:1591:11131,LH00995:41:23WJ53LT4:3:2288:1607:11131,LH00995:41:23WJ53LT4:3:2294:44613:15447,LH00995:41:23WJ53LT4:3:2304:45382:13303,LH00995:41:23WJ53LT4:3:2304:48618:6661,LH00995:41:23WJ53LT4:3:2310:46660:24064,LH00995:41:23WJ53LT4:3:2318:29736:18375,LH00995:41:23WJ53LT4:3:2325:12682:20197,LH00995:41:23WJ53LT4:3:2382:5838:16554,LH00995:41:23WJ53LT4:3:2388:22730:25493,LH00995:41:23WJ53LT4:3:2403:11913:2163,LH00995:41:23WJ53LT4:3:2404:25294:16203,LH00995:41:23WJ53LT4:3:2424:6081:10612,LH00995:41:23WJ53LT4:3:2456:4026:4699,LH00995:41:23WJ53LT4:3:2467:38821:18726,LH00995:41:23WJ53LT4:3:2467:38837:18726,LH00995:41:23WJ53LT4:3:2472:35787:5596,LH00995:41:23WJ53LT4:3:2495:37809:2373,LH00995:41:23WJ53LT4:4:1109:37300:21360,LH00995:41:23WJ53LT4:4:1118:5603:14942,LH00995:41:23WJ53LT4:4:1118:5611:14956,LH00995:41:23WJ53LT4:4:1119:8394:24457,LH00995:41:23WJ53LT4:4:1125:30391:8777,LH00995:41:23WJ53LT4:4:1137:8467:28310,LH00995:41:23WJ53LT4:4:1146:47218:29375,LH00995:41:23WJ53LT4:4:1198:33562:14130,LH00995:41:23WJ53LT4:4:1216:21532:9519,LH00995:41:23WJ53LT4:4:1237:6250:11215,LH00995:41:23WJ53LT4:4:1239:16687:5806,LH00995:41:23WJ53LT4:4:1244:16541:21192,LH00995:41:23WJ53LT4:4:1244:27325:5568,LH00995:41:23WJ53LT4:4:1247:2675:9590,LH00995:41:23WJ53LT4:4:1272:26670:11747,LH00995:41:23WJ53LT4:4:1279:30019:2191,LH00995:41:23WJ53LT4:4:1289:25699:13149,LH00995:41:23WJ53LT4:4:1290:28498:27357,LH00995:41:23WJ53LT4:4:1317:32689:14045,LH00995:41:23WJ53LT4:4:1320:23005:29025,LH00995:41:23WJ53LT4:4:1320:3694:18473,LH00995:41:23WJ53LT4:4:1320:3702:18487,LH00995:41:23WJ53LT4:4:1320:3710:18473,LH00995:41:23WJ53LT4:4:1383:47477:6199,LH00995:41:23WJ53LT4:4:1385:18224:1490,LH00995:41:23WJ53LT4:4:1385:18232:1504,LH00995:41:23WJ53LT4:4:1444:20052:18838,LH00995:41:23WJ53LT4:4:1447:25739:23896,LH00995:41:23WJ53LT4:4:1469:21160:19580,LH00995:41:23WJ53LT4:4:1469:29760:26909,LH00995:41:23WJ53LT4:4:2102:40180:26208,LH00995:41:23WJ53LT4:4:2136:23709:19006,LH00995:41:23WJ53LT4:4:2146:2019:3298,LH00995:41:23WJ53LT4:4:2147:26912:15194,LH00995:41:23WJ53LT4:4:2163:14219:14424,LH00995:41:23WJ53LT4:4:2172:39614:22060,LH00995:41:23WJ53LT4:4:2187:16153:26460,LH00995:41:23WJ53LT4:4:2194:26532:25465,LH00995:41:23WJ53LT4:4:2241:42655:15979,LH00995:41:23WJ53LT4:4:2247:4843:2275,LH00995:41:23WJ53LT4:4:2281:44621:10837,LH00995:41:23WJ53LT4:4:2305:7205:10682,LH00995:41:23WJ53LT4:4:2314:5894:19987,LH00995:41:23WJ53LT4:4:2343:32689:3312,LH00995:41:23WJ53LT4:4:2349:41701:8160,LH00995:41:23WJ53LT4:4:2360:27899:22257,LH00995:41:23WJ53LT4:4:2363:29153:15489,LH00995:41:23WJ53LT4:4:2382:51029:21822,LH00995:41:23WJ53LT4:4:2385:10716:2724,LH00995:41:23WJ53LT4:4:2396:39767:2485,LH00995:41:23WJ53LT4:4:2441:27535:5792,LH00995:41:23WJ53LT4:4:2458:2464:12784,LH00995:41:23WJ53LT4:4:2460:16808:3130,LH00995:41:23WJ53LT4:4:2465:9681:8048,LH00995:41:23WJ53LT4:4:2473:40479:7137,LH00995:41:23WJ53LT4:4:2477:39314:28969,LH00995:41:23WJ53LT4:4:2481:51603:11159,LH00995:41:23WJ53LT4:5:1116:27139:12981,LH00995:41:23WJ53LT4:5:1151:21751:10010,LH00995:41:23WJ53LT4:5:1151:48828:5596,LH00995:41:23WJ53LT4:5:1151:48836:5582,LH00995:41:23WJ53LT4:5:1151:6865:4909,LH00995:41:23WJ53LT4:5:1160:14955:23125,LH00995:41:23WJ53LT4:5:1179:28279:5820,LH00995:41:23WJ53LT4:5:1179:28288:5806,LH00995:41:23WJ53LT4:5:1185:16864:15783,LH00995:41:23WJ53LT4:5:1216:23110:23069,LH00995:41:23WJ53LT4:5:1222:47898:3648,LH00995:41:23WJ53LT4:5:1229:5603:3985,LH00995:41:23WJ53LT4:5:1233:47121:3564,LH00995:41:23WJ53LT4:5:1271:35504:25760,LH00995:41:23WJ53LT4:5:1287:41288:17282,LH00995:41:23WJ53LT4:5:1314:23434:23125,LH00995:41:23WJ53LT4:5:1321:36717:14326,LH00995:41:23WJ53LT4:5:1355:31750:7432,LH00995:41:23WJ53LT4:5:1365:10312:8973,LH00995:41:23WJ53LT4:5:1365:10328:8973,LH00995:41:23WJ53LT4:5:1435:26613:2681,LH00995:41:23WJ53LT4:5:1454:2302:6983,LH00995:41:23WJ53LT4:5:1457:47000:14984,LH00995:41:23WJ53LT4:5:1476:40787:2990,LH00995:41:23WJ53LT4:5:1491:27301:10234,LH00995:41:23WJ53LT4:5:1494:29582:19931,LH00995:41:23WJ53LT4:5:2140:17172:18193,LH00995:41:23WJ53LT4:5:2140:17180:18179,LH00995:41:23WJ53LT4:5:2150:20117:28702,LH00995:41:23WJ53LT4:5:2152:5684:15503,LH00995:41:23WJ53LT4:5:2153:22746:25886,LH00995:41:23WJ53LT4:5:2193:20230:21556,LH00995:41:23WJ53LT4:5:2194:50495:15180,LH00995:41:23WJ53LT4:5:2194:50503:15166,LH00995:41:23WJ53LT4:5:2197:32858:10332,LH00995:41:23WJ53LT4:5:2208:16670:8609,LH00995:41:23WJ53LT4:5:2216:24890:23518,LH00995:41:23WJ53LT4:5:2227:9422:11579,LH00995:41:23WJ53LT4:5:2251:2861:5288,LH00995:41:23WJ53LT4:5:2263:44670:1224,LH00995:41:23WJ53LT4:5:2278:50729:16231,LH00995:41:23WJ53LT4:5:2283:21694:7390,LH00995:41:23WJ53LT4:5:2287:6890:21178,LH00995:41:23WJ53LT4:5:2313:2974:14704,LH00995:41:23WJ53LT4:5:2320:35431:10697,LH00995:41:23WJ53LT4:5:2332:30310:27441,LH00995:41:23WJ53LT4:5:2335:31006:2191,LH00995:41:23WJ53LT4:5:2335:31014:2205,LH00995:41:23WJ53LT4:5:2350:43408:17338,LH00995:41:23WJ53LT4:5:2436:25327:26404,LH00995:41:23WJ53LT4:5:2467:32575:5358,LH00995:41:23WJ53LT4:5:2472:45964:29137,LH00995:41:23WJ53LT4:5:2472:45972:29123,LH00995:41:23WJ53LT4:5:2490:15352:11117,LH00995:41:23WJ53LT4:6:1104:36936:12966,LH00995:41:23WJ53LT4:6:1131:43699:1252,LH00995:41:23WJ53LT4:6:1183:44330:26082,LH00995:41:23WJ53LT4:6:1221:28724:14802,LH00995:41:23WJ53LT4:5:2282:51401:10809

IGH-@-ext

FP236383.3

+/-

+/+

chr14:105707156

chr21:8399952

exon

intron

translocation/3'-3'

119

65535

6421

medium

IGH-.g@-ext

ENSG00000280441.3

upstream

duplicates(139),mismappers(39),mismatches(6)

ARID1B

+/+

chr6:156779279

chr6:156779277

CDS

duplication/ITD

1315

1858

medium

in-frame

|ARID/BRIGHT_DNA_binding_domain(100%),SWI/SNF-like_complex_subunit_BAF250/Osa_(100%)

ENSG00000049618.24

ENST00000346085.10

downstream

upstream

duplicates(64),low_entropy(1),mismappers(2)

GGCCAGAACCAGCACCCGTCGGGGGCCACCCCGACCCTCAATCAGCTGCTCACCTCGCCCAGCCCCATGATGCGGAGCTACGGCGGCAGCTACCCCGAGTACAGCAGCCCCAGCGCGCCGCCGCCGCCGCCG|CCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGCGGCGGCGGGCGGCCAGCAGGCGGCCGCGGGCATGGGCTTGGGCAAGGACATGGGCGCCCAGTACGCCGCTGCCAGCCCGGCCTGGGCGGCCGCGCAACAAAG

GQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP|PSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQ

LH00995:41:23WJ53LT4:1:1154:35302:23083,LH00995:41:23WJ53LT4:1:1224:11954:13891,LH00995:41:23WJ53LT4:1:1237:40746:18585,LH00995:41:23WJ53LT4:1:1253:21816:20155,LH00995:41:23WJ53LT4:1:1364:44290:23041,LH00995:41:23WJ53LT4:1:2156:46110:6829,LH00995:41:23WJ53LT4:1:2169:18620:17226,LH00995:41:23WJ53LT4:1:2327:50923:11103,LH00995:41:23WJ53LT4:1:2401:7820:24611,LH00995:41:23WJ53LT4:2:1146:42186:29655,LH00995:41:23WJ53LT4:2:1228:2092:29235,LH00995:41:23WJ53LT4:2:1381:11816:20155,LH00995:41:23WJ53LT4:2:1381:11824:20141,LH00995:41:23WJ53LT4:2:1381:11833:20155,LH00995:41:23WJ53LT4:2:1455:45002:25732,LH00995:41:23WJ53LT4:2:2292:7383:22369,LH00995:41:23WJ53LT4:3:1180:18936:18726,LH00995:41:23WJ53LT4:3:1239:26702:28898,LH00995:41:23WJ53LT4:3:1298:2149:6437,LH00995:41:23WJ53LT4:3:1342:18458:26755,LH00995:41:23WJ53LT4:3:1357:20165:18557,LH00995:41:23WJ53LT4:3:2109:47784:9702,LH00995:41:23WJ53LT4:3:2134:41523:7936,LH00995:41:23WJ53LT4:3:2170:30067:5750,LH00995:41:23WJ53LT4:3:2170:30075:5736,LH00995:41:23WJ53LT4:3:2290:16743:7137,LH00995:41:23WJ53LT4:3:2335:19219:24597,LH00995:41:23WJ53LT4:4:1152:29258:2892,LH00995:41:23WJ53LT4:4:1162:30998:8903,LH00995:41:23WJ53LT4:4:1257:30893:5806,LH00995:41:23WJ53LT4:4:1277:11557:25003,LH00995:41:23WJ53LT4:4:1304:25383:5176,LH00995:41:23WJ53LT4:4:1429:5555:28114,LH00995:41:23WJ53LT4:4:2111:12269:5974,LH00995:41:23WJ53LT4:4:2117:43537:16442,LH00995:41:23WJ53LT4:4:2201:50665:7796,LH00995:41:23WJ53LT4:4:2244:30205:27371,LH00995:41:23WJ53LT4:4:2303:12415:14466,LH00995:41:23WJ53LT4:4:2461:2828:18487,LH00995:41:23WJ53LT4:4:2479:29986:7768,LH00995:41:23WJ53LT4:4:2488:22705:19426,LH00995:41:23WJ53LT4:5:1289:46490:15503,LH00995:41:23WJ53LT4:5:1362:32300:26797,LH00995:41:23WJ53LT4:5:1473:19866:11817,LH00995:41:23WJ53LT4:5:2180:31524:4825,LH00995:41:23WJ53LT4:5:2228:39630:26292,LH00995:41:23WJ53LT4:1:1102:6582:12070,LH00995:41:23WJ53LT4:1:1103:37526:6703,LH00995:41:23WJ53LT4:1:1233:51935:15629,LH00995:41:23WJ53LT4:1:1249:31621:29011,LH00995:41:23WJ53LT4:1:1254:33627:22285,LH00995:41:23WJ53LT4:1:1305:3815:22355,LH00995:41:23WJ53LT4:1:1328:13572:29081,LH00995:41:23WJ53LT4:1:1338:50584:24471,LH00995:41:23WJ53LT4:1:1350:16266:4041,LH00995:41:23WJ53LT4:1:1350:37486:25858,LH00995:41:23WJ53LT4:1:1356:15805:25381,LH00995:41:23WJ53LT4:1:1368:46773:17535,LH00995:41:23WJ53LT4:1:1412:11630:12602,LH00995:41:23WJ53LT4:1:1418:25966:5820,LH00995:41:23WJ53LT4:1:1421:45891:22537,LH00995:41:23WJ53LT4:1:1423:48642:12981,LH00995:41:23WJ53LT4:1:1486:45649:3284,LH00995:41:23WJ53LT4:1:2137:38675:13709,LH00995:41:23WJ53LT4:1:2166:38489:5288,LH00995:41:23WJ53LT4:1:2188:20117:17577,LH00995:41:23WJ53LT4:1:2252:45778:14130,LH00995:41:23WJ53LT4:1:2263:9462:12518,LH00995:41:23WJ53LT4:1:2264:50131:24975,LH00995:41:23WJ53LT4:1:2270:22835:7348,LH00995:41:23WJ53LT4:1:2316:40698:3788,LH00995:41:23WJ53LT4:1:2361:1065:17759,LH00995:41:23WJ53LT4:1:2361:1073:17745,LH00995:41:23WJ53LT4:1:2384:1324:18824,LH00995:41:23WJ53LT4:1:2430:33764:15096,LH00995:41:23WJ53LT4:2:1179:24574:20365,LH00995:41:23WJ53LT4:2:1314:46717:27413,LH00995:41:23WJ53LT4:2:1331:13758:10290,LH00995:41:23WJ53LT4:2:1335:4511:8763,LH00995:41:23WJ53LT4:2:1372:40334:18011,LH00995:41:23WJ53LT4:2:1397:10538:22397,LH00995:41:23WJ53LT4:2:1402:41741:24961,LH00995:41:23WJ53LT4:2:1424:10724:3214,LH00995:41:23WJ53LT4:2:1425:22827:13891,LH00995:41:23WJ53LT4:2:1465:33611:12168,LH00995:41:23WJ53LT4:2:1484:1849:17324,LH00995:41:23WJ53LT4:2:2163:30909:21780,LH00995:41:23WJ53LT4:2:2182:35738:6072,LH00995:41:23WJ53LT4:2:2197:45414:20954,LH00995:41:23WJ53LT4:2:2272:34938:5330,LH00995:41:23WJ53LT4:2:2331:24421:27497,LH00995:41:23WJ53LT4:2:2411:31782:25620,LH00995:41:23WJ53LT4:2:2421:41701:15559,LH00995:41:23WJ53LT4:2:2446:45730:26124,LH00995:41:23WJ53LT4:2:2497:19866:13779,LH00995:41:23WJ53LT4:3:1111:32090:1546,LH00995:41:23WJ53LT4:3:1162:18523:27904,LH00995:41:23WJ53LT4:3:1177:24849:27988,LH00995:41:23WJ53LT4:3:1194:36103:17549,LH00995:41:23WJ53LT4:3:1222:22196:20561,LH00995:41:23WJ53LT4:3:1291:1882:6675,LH00995:41:23WJ53LT4:3:1307:42186:8272,LH00995:41:23WJ53LT4:3:1320:29930:20785,LH00995:41:23WJ53LT4:3:1346:7092:5526,LH00995:41:23WJ53LT4:3:1369:38125:19342,LH00995:41:23WJ53LT4:3:1455:8815:16301,LH00995:41:23WJ53LT4:3:1495:38182:19132,LH00995:41:23WJ53LT4:3:2101:8944:9744,LH00995:41:23WJ53LT4:3:2115:40317:24625,LH00995:41:23WJ53LT4:3:2164:34525:3382,LH00995:41:23WJ53LT4:3:2221:17002:7249,LH00995:41:23WJ53LT4:3:2238:9228:14073,LH00995:41:23WJ53LT4:3:2362:48893:27259,LH00995:41:23WJ53LT4:3:2389:26168:11719,LH00995:41:23WJ53LT4:3:2389:26184:11719,LH00995:41:23WJ53LT4:3:2442:22625:22341,LH00995:41:23WJ53LT4:3:2496:50195:27749,LH00995:41:23WJ53LT4:4:1119:2893:7978,LH00995:41:23WJ53LT4:4:1133:46377:17408,LH00995:41:23WJ53LT4:4:1137:16832:27974,LH00995:41:23WJ53LT4:4:1186:5773:3270,LH00995:41:23WJ53LT4:4:1194:11493:4713,LH00995:41:23WJ53LT4:4:1257:40180:2387,LH00995:41:23WJ53LT4:4:1283:34873:12336,LH00995:41:23WJ53LT4:4:1343:45341:25844,LH00995:41:23WJ53LT4:4:1355:17018:9491,LH00995:41:23WJ53LT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ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

431

501

medium

in-frame

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

ENSG00000204514.10

ENST00000435989.7

upstream

downstream

duplicates(284)

TGCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATt

LTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH

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PCDHGB2

PCDHGA8

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

CAATCAGCCAAGACAGAGTTCAATTTTCTGAACATAACCCCGGAATTGGTTCCCGCGCAAGATCTCGTCTGTGACAATGCCTCTTGGGAACAAAATACAAATCATGGAGCCGCTGGGGTCCCTTTTGCCTCAGATACTATTTTGAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGAC

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:41:23WJ53LT4:1:1128:13815:25157,LH00995:41:23WJ53LT4:1:1294:34751:15433,LH00995:41:23WJ53LT4:1:1423:20149:26432,LH00995:41:23WJ53LT4:1:1423:20165:26432,LH00995:41:23WJ53LT4:1:2101:14357:6030,LH00995:41:23WJ53LT4:1:2166:35560:16049,LH00995:41:23WJ53LT4:1:2183:47582:21038,LH00995:41:23WJ53LT4:1:2192:16889:26418,LH00995:41:23WJ53LT4:1:2214:44370:24723,LH00995:41:23WJ53LT4:1:2255:35002:6815,LH00995:41:23WJ53LT4:1:2328:20821:23111,LH00995:41:23WJ53LT4:1:2364:36661:16610,LH00995:41:23WJ53LT4:1:2381:10392:19258,LH00995:41:23WJ53LT4:1:2381:10409:19258,LH00995:41:23WJ53LT4:1:2415:48747:16329,LH00995:41:23WJ53LT4:2:1206:40544:11257,LH00995:41:23WJ53LT4:2:1209:20141:1140,LH00995:41:23WJ53LT4:2:1218:21508:18978,LH00995:41:23WJ53LT4:2:1367:13637:4979,LH00995:41:23WJ53LT4:2:1367:17083:19524,LH00995:41:23WJ53LT4:2:1383:32988:20253,LH00995:41:23WJ53LT4:2:1390:38578:13597,LH00995:41:23WJ53LT4:2:1423:29283:6829,LH00995:41:23WJ53LT4:2:1432:51433:12798,LH00995:41:23WJ53LT4:2:2148:24307:21892,LH00995:41:23WJ53LT4:2:2167:14090:8202,LH00995:41:23WJ53LT4:2:2212:16217:5302,LH00995:41:23WJ53LT4:2:2310:6639:22705,LH00995:41:23WJ53LT4:2:2344:18531:16904,LH00995:41:23WJ53LT4:2:2391:10425:14494,LH00995:41:23WJ53LT4:2:2398:36798:26769,LH00995:41:23WJ53LT4:2:2448:19502:7095,LH00995:41:23WJ53LT4:2:2479:39816:27595,LH00995:41:23WJ53LT4:2:2479:39832:27595,LH00995:41:23WJ53LT4:3:1106:34056:28044,LH00995:41:23WJ53LT4:3:1111:30804:15993,LH00995:41:23WJ53LT4:3:1201:9106:3074,LH00995:41:23WJ53LT4:3:1201:9114:3088,LH00995:41:23WJ53LT4:3:1241:31240:25718,LH00995:41:23WJ53LT4:3:1247:23102:28436,LH00995:41:23WJ53LT4:3:1254:47898:25984,LH00995:41:23WJ53LT4:3:1260:42170:16848,LH00995:41:23WJ53LT4:3:1279:25254:6269,LH00995:41:23WJ53LT4:3:1467:12447:17829,LH00995:41:23WJ53LT4:3:2111:41628:28492,LH00995:41:23WJ53LT4:3:2130:21597:27848,LH00995:41:23WJ53LT4:3:2188:47429:14634,LH00995:41:23WJ53LT4:3:2220:2214:12882,LH00995:41:23WJ53LT4:3:2235:7456:16610,LH00995:41:23WJ53LT4:3:2315:50851:1504,LH00995:41:23WJ53LT4:3:2316:27454:4335,LH00995:41:23WJ53LT4:3:2363:10676:28660,LH00995:41:23WJ53LT4:3:2373:17682:6661,LH00995:41:23WJ53LT4:3:2376:12496:28730,LH00995:41:23WJ53LT4:3:2416:43270:14158,LH00995:41:23WJ53LT4:3:2474:29590:17506,LH00995:41:23WJ53LT4:3:2479:7650:14956,LH00995:41:23WJ53LT4:3:2489:2925:21290,LH00995:41:23WJ53LT4:3:2493:22908:25550,LH00995:41:23WJ53LT4:4:1131:13038:5540,LH00995:41:23WJ53LT4:4:1149:34768:15573,LH00995:41:23WJ53LT4:4:1149:34776:15559,LH00995:41:23WJ53LT4:4:1149:35480:15993,LH00995:41:23WJ53LT4:4:1386:42623:26825,LH00995:41:23WJ53LT4:4:1409:50802:8539,LH00995:41:23WJ53LT4:4:2160:21573:18613,LH00995:41:23WJ53LT4:4:2276:13742:24246,LH00995:41:23WJ53LT4:4:2370:15109:16301,LH00995:41:23WJ53LT4:4:2401:22074:19426,LH00995:41:23WJ53LT4:4:2424:23336:7768,LH00995:41:23WJ53LT4:4:2472:33627:8384,LH00995:41:23WJ53LT4:4:2489:46878:18894,LH00995:41:23WJ53LT4:5:1267:31402:6493,LH00995:41:23WJ53LT4:5:1290:19518:23574,LH00995:41:23WJ53LT4:5:1349:50616:4041,LH00995:41:23WJ53LT4:5:1481:16452:12658,LH00995:41:23WJ53LT4:5:2108:11922:2709,LH00995:41:23WJ53LT4:5:2210:3670:27763,LH00995:41:23WJ53LT4:5:2294:44193:6114,LH00995:41:23WJ53LT4:5:2338:38141:28983,LH00995:41:23WJ53LT4:6:1164:21662:9239,LH00995:41:23WJ53LT4:6:1166:2942:17254,LH00995:41:23WJ53LT4:6:1227:31685:22060,LH00995:41:23WJ53LT4:1:1107:9996:17675,LH00995:41:23WJ53LT4:1:1132:5878:17745,LH00995:41:23WJ53LT4:1:1171:2424:13723,LH00995:41:23WJ53LT4:1:1202:7488:26390,LH00995:41:23WJ53LT4:1:1225:48877:28576,LH00995:41:23WJ53LT4:1:1310:21848:8889,LH00995:41:23WJ53LT4:1:1391:15772:15517,LH00995:41:23WJ53LT4:1:1391:15789:15517,LH00995:41:23WJ53LT4:1:1393:37785:21444,LH00995:41:23WJ53LT4:1:1455:32292:14648,LH00995:41:23WJ53LT4:1:2122:5409:26741,LH00995:41:23WJ53LT4:1:2244:13887:2387,LH00995:41:23WJ53LT4:1:2464:5215:15755,LH00995:41:23WJ53LT4:1:2464:5231:15755,LH00995:41:23WJ53LT4:2:1103:49807:2023,LH00995:41:23WJ53LT4:2:1142:29250:19216,LH00995:41:23WJ53LT4:2:1163:32041:12644,LH00995:41:23WJ53LT4:2:1259:16921:21570,LH00995:41:23WJ53LT4:2:2107:37866:19454,LH00995:41:23WJ53LT4:2:2114:32009:1266,LH00995:41:23WJ53LT4:2:2118:51595:25942,LH00995:41:23WJ53LT4:2:2118:51603:25928,LH00995:41:23WJ53LT4:2:2159:20618:14101,LH00995:41:23WJ53LT4:2:2251:16136:11832,LH00995:41:23WJ53LT4:2:2285:44079:10598,LH00995:41:23WJ53LT4:2:2293:17795:9828,LH00995:41:23WJ53LT4:2:2389:1712:18852,LH00995:41:23WJ53LT4:2:2401:26888:19861,LH00995:41:23WJ53LT4:2:2455:10417:23924,LH00995:41:23WJ53LT4:3:1148:15878:25283,LH00995:41:23WJ53LT4:3:1271:40641:22018,LH00995:41:23WJ53LT4:3:1303:3848:10164,LH00995:41:23WJ53LT4:3:1443:8427:2261,LH00995:41:23WJ53LT4:3:2181:51886:22495,LH00995:41:23WJ53LT4:3:2241:35520:2555,LH00995:41:23WJ53LT4:3:2287:6170:28814,LH00995:41:23WJ53LT4:3:2305:43173:5890,LH00995:41:23WJ53LT4:3:2325:25674:18908,LH00995:41:23WJ53LT4:3:2404:46587:20351,LH00995:41:23WJ53LT4:3:2408:31507:27834,LH00995:41:23WJ53LT4:3:2490:7521:16414,LH00995:41:23WJ53LT4:4:1113:40657:9463,LH00995:41:23WJ53LT4:4:1115:51587:24443,LH00995:41:23WJ53LT4:4:1132:1841:15545,LH00995:41:23WJ53LT4:4:1235:51571:6591,LH00995:41:23WJ53LT4:4:1306:14672:18992,LH00995:41:23WJ53LT4:4:1333:35755:2317,LH00995:41:23WJ53LT4:4:1397:18288:9954,LH00995:41:23WJ53LT4:4:1402:17479:12868,LH00995:41:23WJ53LT4:4:1422:44557:9323,LH00995:41:23WJ53LT4:4:1492:22819:14186,LH00995:41:23WJ53LT4:4:2295:34015:9197,LH00995:41:23WJ53LT4:4:2295:38489:14396,LH00995:41:23WJ53LT4:5:1248:42850:14466,LH00995:41:23WJ53LT4:5:1298:1849:2471,LH00995:41:23WJ53LT4:5:1363:36774:9800,LH00995:41:23WJ53LT4:5:2115:38885:6395,LH00995:41:23WJ53LT4:5:2197:50195:21416,LH00995:41:23WJ53LT4:5:2327:9454:9253,LH00995:41:23WJ53LT4:5:2414:23814:20141,LH00995:41:23WJ53LT4:5:2452:10546:29529,LH00995:41:23WJ53LT4:5:2477:8321:22145,LH00995:41:23WJ53LT4:6:1134:45616:4629,LH00995:41:23WJ53LT4:6:1136:38020:23448,LH00995:41:23WJ53LT4:6:1136:38036:23448,LH00995:41:23WJ53LT4:6:1148:36175:18824,LH00995:41:23WJ53LT4:6:1195:14098:10711,LH00995:41:23WJ53LT4:6:1205:2642:22229,LH00995:41:23WJ53LT4:6:1210:4487:27189

PCDHGB2

PCDHGA10

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGB2

PCDHGA11

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGB2

PCDHGB6

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGB2

PCDHGA9

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGB2

PCDHGC5

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGB2

PCDHGC4

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGB2

PCDHGB7

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGB2

PCDHGC3

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGB2

PCDHGA12

+/+

chr5:141362556

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

301

7088

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(100),low_entropy(3)

QSAKTEFNFLNITPELVPAQDLVCDNASWEQNTNHGAAGVPFASDTILK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

GNAI2P1(99589),RPL30P11(2027)

ATF7IP

./+

+/+

chr12:14354815

chr12:14423909

intergenic

CDS/splice-site

deletion/read-through

2462

medium

|ATF-interacting_protein_binding_domain(100%),Fibronectin-III_type_domain(100%)

ENSG00000171681.12

ENST00000544627.5

downstream

upstream

duplicates(30),mismatches(2)

TCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCATCTCTGCCCGGCCACCCCGTCTGAGAAGTGAGGAGCCCCTCTGCCCGGCAGCCGCCCCGTCTGACAA|ATTCAGAATGGACAGTTTAGAAGAACCTCAGAAAAAAGTCTTTAAGGCTCGAAAAACGATGAGAGTGAGTGATCGTCAGCAACTTGAAGCAGTGTACAAGGTCAAAGAAGAACTGTTGAAAACTGATGTCAAGCTGTTAAATGGCAACCATGAAAATGGAGATTTGGAC

LH00995:41:23WJ53LT4:1:1124:13766:15601,LH00995:41:23WJ53LT4:1:1124:13774:15587,LH00995:41:23WJ53LT4:1:1294:5830:16904,LH00995:41:23WJ53LT4:1:1389:36871:8875,LH00995:41:23WJ53LT4:1:1389:36879:8889,LH00995:41:23WJ53LT4:1:1435:32697:11705,LH00995:41:23WJ53LT4:1:2239:15780:14830,LH00995:41:23WJ53LT4:2:1197:13475:19804,LH00995:41:23WJ53LT4:2:1197:13483:19790,LH00995:41:23WJ53LT4:2:1197:13491:19804,LH00995:41:23WJ53LT4:2:1355:36321:14872,LH00995:41:23WJ53LT4:2:1460:36394:22929,LH00995:41:23WJ53LT4:2:2229:18143:22509,LH00995:41:23WJ53LT4:3:1222:24073:21738,LH00995:41:23WJ53LT4:4:1286:12472:23756,LH00995:41:23WJ53LT4:4:1382:5611:20393,LH00995:41:23WJ53LT4:5:2238:36531:4475,LH00995:41:23WJ53LT4:1:1407:46506:28702,LH00995:41:23WJ53LT4:1:1407:46522:28674,LH00995:41:23WJ53LT4:1:1476:25084:22817,LH00995:41:23WJ53LT4:1:2194:38942:17058,LH00995:41:23WJ53LT4:1:2478:3006:14564,LH00995:41:23WJ53LT4:2:1175:25456:27609,LH00995:41:23WJ53LT4:2:1210:12828:8286,LH00995:41:23WJ53LT4:2:1213:1712:13079,LH00995:41:23WJ53LT4:2:1249:4632:23153,LH00995:41:23WJ53LT4:2:1312:42680:9323,LH00995:41:23WJ53LT4:2:1312:42688:9337,LH00995:41:23WJ53LT4:2:1402:28182:5400,LH00995:41:23WJ53LT4:2:1482:44969:28702,LH00995:41:23WJ53LT4:2:2317:5927:18165,LH00995:41:23WJ53LT4:2:2369:9414:11425,LH00995:41:23WJ53LT4:3:1156:20634:24555,LH00995:41:23WJ53LT4:3:1246:6590:20239,LH00995:41:23WJ53LT4:3:1262:36507:3788,LH00995:41:23WJ53LT4:3:1262:36515:3802,LH00995:41:23WJ53LT4:3:1262:36523:3788,LH00995:41:23WJ53LT4:3:1271:42316:3704,LH00995:41:23WJ53LT4:3:1313:44621:5736,LH00995:41:23WJ53LT4:3:1455:5992:18305,LH00995:41:23WJ53LT4:3:2331:14179:24751,LH00995:41:23WJ53LT4:3:2420:15570:23238,LH00995:41:23WJ53LT4:4:1191:10093:4895,LH00995:41:23WJ53LT4:4:1243:46943:28786,LH00995:41:23WJ53LT4:4:1382:51441:21332,LH00995:41:23WJ53LT4:4:1426:35609:19861,LH00995:41:23WJ53LT4:4:1426:35617:19875,LH00995:41:23WJ53LT4:4:1427:1882:11663,LH00995:41:23WJ53LT4:4:1462:27915:3340,LH00995:41:23WJ53LT4:4:2169:20044:15152,LH00995:41:23WJ53LT4:4:2398:39419:25592,LH00995:41:23WJ53LT4:4:2428:16864:11383,LH00995:41:23WJ53LT4:5:1201:1930:2667,LH00995:41:23WJ53LT4:5:1201:1938:2653,LH00995:41:23WJ53LT4:5:1226:26532:20421,LH00995:41:23WJ53LT4:5:1226:26540:20435,LH00995:41:23WJ53LT4:5:1314:22649:23812,LH00995:41:23WJ53LT4:5:1314:22657:23798,LH00995:41:23WJ53LT4:5:1323:29833:20281,LH00995:41:23WJ53LT4:5:1365:4018:24555,LH00995:41:23WJ53LT4:5:1365:4026:24541,LH00995:41:23WJ53LT4:5:2155:50082:1378,LH00995:41:23WJ53LT4:5:2185:29048:26600,LH00995:41:23WJ53LT4:5:2325:31346:15138,LH00995:41:23WJ53LT4:5:2491:13192:7992,LH00995:41:23WJ53LT4:1:2456:42202:9029,LH00995:41:23WJ53LT4:3:2334:49742:24218,LH00995:41:23WJ53LT4:3:2334:49750:24232,LH00995:41:23WJ53LT4:4:2193:15004:22481,LH00995:41:23WJ53LT4:4:2193:15012:22495,LH00995:41:23WJ53LT4:4:2193:15028:22495,LH00995:41:23WJ53LT4:4:2193:15044:22495,LH00995:41:23WJ53LT4:6:1215:37049:5120

DDX11

+/+

chr12:31084016

chr12:31084008

CDS

duplication/ITD

394

503

medium

in-frame

|DEAD_2(100%),Helicase_C-terminal_domain(100%)

ENSG00000013573.17

ENST00000542838.6

downstream

upstream

duplicates(109),low_entropy(1)

CTGGAACTGGCCCCTTACATGATGAGAAAGATGAATCCCTGTGTCTGTCTTCcTCCTGCGAAGGGGCTGCAGGCACCCCGAGGCCTGCTGGAGAACCGGCCTGGGTTACTCAG|GTTACTCAGTTTGTGCAGAAGAAAGAAGAGAGGGACCTGGTGaACCGACTgAAG___GCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAAtGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTG...___AGTGGATGAGGATGAGGATGACC

GTGPLHDEKDESLCLSSSCEGAAGTPRPAGEPAWVTQ|VTQFVQKKEERDLVnRLKAEQARRKQREEcLQQLQHRVQLKYAAKR

LH00995:41:23WJ53LT4:1:1302:9333:21626,LH00995:41:23WJ53LT4:1:1302:9333:21626,LH00995:41:23WJ53LT4:1:1302:9333:21626,LH00995:41:23WJ53LT4:1:1302:9333:21626,LH00995:41:23WJ53LT4:1:1407:3192:14101,LH00995:41:23WJ53LT4:1:1407:3192:14101,LH00995:41:23WJ53LT4:1:1407:3192:14101,LH00995:41:23WJ53LT4:1:1407:3192:14101,LH00995:41:23WJ53LT4:1:1488:47218:15839,LH00995:41:23WJ53LT4:1:1488:47218:15839,LH00995:41:23WJ53LT4:1:1488:47218:15839,LH00995:41:23WJ53LT4:1:1488:47218:15839,LH00995:41:23WJ53LT4:1:2211:12973:24148,LH00995:41:23WJ53LT4:1:2211:12973:24148,LH00995:41:23WJ53LT4:1:2211:12973:24148,LH00995:41:23WJ53LT4:1:2211:12973:24148,LH00995:41:23WJ53LT4:1:2260:29792:2331,LH00995:41:23WJ53LT4:1:2260:29792:2331,LH00995:41:23WJ53LT4:1:2260:29792:2331,LH00995:41:23WJ53LT4:1:2260:29792:2331,LH00995:41:23WJ53LT4:1:2376:21435:1673,LH00995:41:23WJ53LT4:1:2436:27220:4994,LH00995:41:23WJ53LT4:1:2436:27220:4994,LH00995:41:23WJ53LT4:1:2436:27220:4994,LH00995:41:23WJ53LT4:1:2436:27220:4994,LH00995:41:23WJ53LT4:1:2436:27228:4979,LH00995:41:23WJ53LT4:1:2436:27228:4979,LH00995:41:23WJ53LT4:1:2436:27228:4979,LH00995:41:23WJ53LT4:1:2436:27228:4979,LH00995:41:23WJ53LT4:1:2479:36992:4713,LH00995:41:23WJ53LT4:1:2479:36992:4713,LH00995:41:23WJ53LT4:1:2479:36992:4713,LH00995:41:23WJ53LT4:1:2479:36992:4713,LH00995:41:23WJ53LT4:2:1149:27535:10500,LH00995:41:23WJ53LT4:2:2150:14397:9015,LH00995:41:23WJ53LT4:2:2486:51474:3873,LH00995:41:23WJ53LT4:2:2486:51474:3873,LH00995:41:23WJ53LT4:2:2486:51474:3873,LH00995:41:23WJ53LT4:2:2486:51474:3873,LH00995:41:23WJ53LT4:3:1212:8718:27483,LH00995:41:23WJ53LT4:3:1240:27867:14017,LH00995:41:23WJ53LT4:3:1259:40099:23686,LH00995:41:23WJ53LT4:3:2207:50244:6143,LH00995:41:23WJ53LT4:3:2207:50244:6143,LH00995:41:23WJ53LT4:3:2207:50244:6143,LH00995:41:23WJ53LT4:3:2207:50244:6143,LH00995:41:23WJ53LT4:3:2267:51053:29039,LH00995:41:23WJ53LT4:3:2267:51053:29039,LH00995:41:23WJ53LT4:3:2267:51053:29039,LH00995:41:23WJ53LT4:3:2267:51053:29039,LH00995:41:23WJ53LT4:3:2281:38052:21710,LH00995:41:23WJ53LT4:4:1372:22908:24485,LH00995:41:23WJ53LT4:4:1372:22908:24485,LH00995:41:23WJ53LT4:4:1372:22908:24485,LH00995:41:23WJ53LT4:4:1372:22908:24485,LH00995:41:23WJ53LT4:4:1494:30035:25423,LH00995:41:23WJ53LT4:4:1494:30035:25423,LH00995:41:23WJ53LT4:4:1494:30035:25423,LH00995:41:23WJ53LT4:4:1494:30035:25423,LH00995:41:23WJ53LT4:4:2436:16193:29641,LH00995:41:23WJ53LT4:4:2436:16201:29655,LH00995:41:23WJ53LT4:4:2441:24073:20029,LH00995:41:23WJ53LT4:5:1349:46644:12294,LH00995:41:23WJ53LT4:5:2172:13345:12518,LH00995:41:23WJ53LT4:5:2489:20643:24176,LH00995:41:23WJ53LT4:3:2391:52007:27161,LH00995:41:23WJ53LT4:1:2376:21435:1673,LH00995:41:23WJ53LT4:1:2376:21435:1673,LH00995:41:23WJ53LT4:1:2376:21435:1673,LH00995:41:23WJ53LT4:2:1149:27535:10500,LH00995:41:23WJ53LT4:2:1149:27535:10500,LH00995:41:23WJ53LT4:2:1149:27535:10500,LH00995:41:23WJ53LT4:2:1352:26912:2107,LH00995:41:23WJ53LT4:2:1352:26912:2107,LH00995:41:23WJ53LT4:2:1352:26912:2107,LH00995:41:23WJ53LT4:2:1427:34428:18880,LH00995:41:23WJ53LT4:2:1427:34428:18880,LH00995:41:23WJ53LT4:2:1427:34428:18880,LH00995:41:23WJ53LT4:2:1471:37114:28072,LH00995:41:23WJ53LT4:2:1471:37114:28072,LH00995:41:23WJ53LT4:2:1471:37114:28072,LH00995:41:23WJ53LT4:2:2104:43311:21962,LH00995:41:23WJ53LT4:2:2150:14397:9015,LH00995:41:23WJ53LT4:2:2150:14397:9015,LH00995:41:23WJ53LT4:2:2150:14397:9015,LH00995:41:23WJ53LT4:2:2411:46709:6717,LH00995:41:23WJ53LT4:2:2411:46709:6717,LH00995:41:23WJ53LT4:2:2411:46709:6717,LH00995:41:23WJ53LT4:3:1212:8718:27483,LH00995:41:23WJ53LT4:3:1212:8718:27483,LH00995:41:23WJ53LT4:3:1212:8718:27483,LH00995:41:23WJ53LT4:3:1240:27867:14017,LH00995:41:23WJ53LT4:3:1240:27867:14017,LH00995:41:23WJ53LT4:3:1240:27867:14017,LH00995:41:23WJ53LT4:3:1247:23603:21738,LH00995:41:23WJ53LT4:3:1247:23603:21738,LH00995:41:23WJ53LT4:3:1247:23603:21738,LH00995:41:23WJ53LT4:3:1247:23620:21738,LH00995:41:23WJ53LT4:3:1247:23620:21738,LH00995:41:23WJ53LT4:3:1247:23620:21738,LH00995:41:23WJ53LT4:3:1259:40099:23686,LH00995:41:23WJ53LT4:3:1259:40099:23686,LH00995:41:23WJ53LT4:3:1259:40099:23686,LH00995:41:23WJ53LT4:3:2281:38052:21710,LH00995:41:23WJ53LT4:3:2281:38052:21710,LH00995:41:23WJ53LT4:3:2281:38052:21710,LH00995:41:23WJ53LT4:4:1114:7197:2990,LH00995:41:23WJ53LT4:4:1114:7197:2990,LH00995:41:23WJ53LT4:4:1114:7197:2990,LH00995:41:23WJ53LT4:4:1114:7205:3004,LH00995:41:23WJ53LT4:4:1114:7205:3004,LH00995:41:23WJ53LT4:4:1114:7205:3004,LH00995:41:23WJ53LT4:4:1252:46433:5708,LH00995:41:23WJ53LT4:4:1252:46433:5708,LH00995:41:23WJ53LT4:4:1252:46433:5708,LH00995:41:23WJ53LT4:4:1443:37413:11523,LH00995:41:23WJ53LT4:4:1443:37413:11523,LH00995:41:23WJ53LT4:4:1443:37413:11523,LH00995:41:23WJ53LT4:4:2267:46361:18277,LH00995:41:23WJ53LT4:4:2436:16193:29641,LH00995:41:23WJ53LT4:4:2436:16193:29641,LH00995:41:23WJ53LT4:4:2436:16193:29641,LH00995:41:23WJ53LT4:4:2436:16201:29655,LH00995:41:23WJ53LT4:4:2436:16201:29655,LH00995:41:23WJ53LT4:4:2436:16201:29655,LH00995:41:23WJ53LT4:4:2441:24073:20029,LH00995:41:23WJ53LT4:4:2441:24073:20029,LH00995:41:23WJ53LT4:4:2441:24073:20029,LH00995:41:23WJ53LT4:5:1349:46644:12294,LH00995:41:23WJ53LT4:5:1349:46644:12294,LH00995:41:23WJ53LT4:5:1349:46644:12294,LH00995:41:23WJ53LT4:5:2172:13345:12518,LH00995:41:23WJ53LT4:5:2172:13345:12518,LH00995:41:23WJ53LT4:5:2172:13345:12518,LH00995:41:23WJ53LT4:5:2489:20643:24176,LH00995:41:23WJ53LT4:5:2489:20643:24176,LH00995:41:23WJ53LT4:5:2489:20643:24176,LH00995:41:23WJ53LT4:6:1185:34921:3788,LH00995:41:23WJ53LT4:6:1185:34921:3788,LH00995:41:23WJ53LT4:6:1185:34921:3788,LH00995:41:23WJ53LT4:3:2391:52007:27161,LH00995:41:23WJ53LT4:3:2391:52007:27161,LH00995:41:23WJ53LT4:3:2391:52007:27161,LH00995:41:23WJ53LT4:4:1114:7197:2990,LH00995:41:23WJ53LT4:4:1114:7205:3004

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

2049

286

medium

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(47),low_entropy(1),mismappers(1)

TGAATTTTCTACTTTCACACATAAAACTGTATATTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG___ATGGAATCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGAGGGGCCAACAGGA

LH00995:41:23WJ53LT4:1:1189:32373:12910,LH00995:41:23WJ53LT4:1:1303:47509:6171,LH00995:41:23WJ53LT4:1:1488:29169:17142,LH00995:41:23WJ53LT4:1:2106:43796:7950,LH00995:41:23WJ53LT4:1:2209:44063:12308,LH00995:41:23WJ53LT4:1:2448:25440:9505,LH00995:41:23WJ53LT4:2:1205:8621:29585,LH00995:41:23WJ53LT4:2:1454:16161:10192,LH00995:41:23WJ53LT4:2:1466:15060:14312,LH00995:41:23WJ53LT4:3:1191:32664:2681,LH00995:41:23WJ53LT4:3:1191:32672:2667,LH00995:41:23WJ53LT4:3:1191:32680:2681,LH00995:41:23WJ53LT4:3:2396:50705:8819,LH00995:41:23WJ53LT4:4:1372:29509:28772,LH00995:41:23WJ53LT4:5:1322:50300:18852,LH00995:41:23WJ53LT4:5:2105:51255:1869,LH00995:41:23WJ53LT4:5:2348:12682:8455,LH00995:41:23WJ53LT4:6:1234:31046:1280,LH00995:41:23WJ53LT4:1:1441:50899:8567,LH00995:41:23WJ53LT4:1:1441:50915:8567,LH00995:41:23WJ53LT4:1:1441:50923:8553,LH00995:41:23WJ53LT4:1:2383:30973:3957,LH00995:41:23WJ53LT4:2:1113:50826:18333,LH00995:41:23WJ53LT4:2:1324:26928:13933,LH00995:41:23WJ53LT4:2:1327:35658:11145,LH00995:41:23WJ53LT4:2:1491:10449:24569,LH00995:41:23WJ53LT4:2:1491:10457:24583,LH00995:41:23WJ53LT4:2:2276:45042:5624,LH00995:41:23WJ53LT4:2:2349:42000:2934,LH00995:41:23WJ53LT4:2:2375:27462:27553,LH00995:41:23WJ53LT4:3:2268:2003:15769,LH00995:41:23WJ53LT4:3:2446:20319:11958,LH00995:41:23WJ53LT4:3:2446:20327:11972,LH00995:41:23WJ53LT4:3:2446:20335:11958,LH00995:41:23WJ53LT4:3:2446:20335:11986,LH00995:41:23WJ53LT4:3:2463:15700:5442,LH00995:41:23WJ53LT4:3:2463:15708:5456,LH00995:41:23WJ53LT4:4:1157:33336:15279,LH00995:41:23WJ53LT4:4:1163:14179:3340,LH00995:41:23WJ53LT4:4:1163:14187:3326,LH00995:41:23WJ53LT4:4:1228:28482:4181,LH00995:41:23WJ53LT4:4:2149:6898:18053,LH00995:41:23WJ53LT4:4:2149:6906:18067,LH00995:41:23WJ53LT4:4:2184:11501:7642,LH00995:41:23WJ53LT4:4:2381:36766:2976,LH00995:41:23WJ53LT4:4:2382:32923:17422,LH00995:41:23WJ53LT4:5:1166:46700:23966,LH00995:41:23WJ53LT4:5:1166:46717:23966,LH00995:41:23WJ53LT4:5:1246:3047:14298,LH00995:41:23WJ53LT4:5:1256:37745:9744,LH00995:41:23WJ53LT4:5:1256:37761:9744,LH00995:41:23WJ53LT4:5:2169:12666:16189,LH00995:41:23WJ53LT4:5:2353:19348:27427,LH00995:41:23WJ53LT4:5:2404:38303:22145,LH00995:41:23WJ53LT4:5:2488:46239:29641,LH00995:41:23WJ53LT4:6:1146:13717:11986,LH00995:41:23WJ53LT4:1:2235:32405:18291,LH00995:41:23WJ53LT4:1:2455:32915:10514,LH00995:41:23WJ53LT4:2:2251:6703:21920,LH00995:41:23WJ53LT4:3:1286:17924:13135,LH00995:41:23WJ53LT4:3:1286:17932:13149,LH00995:41:23WJ53LT4:3:1304:41563:24036,LH00995:41:23WJ53LT4:3:1304:41571:24022,LH00995:41:23WJ53LT4:3:1304:41579:24036,LH00995:41:23WJ53LT4:3:1480:7779:8034,LH00995:41:23WJ53LT4:3:1480:7788:7992,LH00995:41:23WJ53LT4:3:1480:7796:8006,LH00995:41:23WJ53LT4:3:1480:7796:8034,LH00995:41:23WJ53LT4:3:1480:7804:7992,LH00995:41:23WJ53LT4:3:1480:7804:8020,LH00995:41:23WJ53LT4:4:1240:5263:28002,LH00995:41:23WJ53LT4:4:1240:5263:28030,LH00995:41:23WJ53LT4:4:1240:5272:28016,LH00995:41:23WJ53LT4:4:2139:18879:21598,LH00995:41:23WJ53LT4:4:2250:14648:9814,LH00995:41:23WJ53LT4:4:2250:14656:9828,LH00995:41:23WJ53LT4:4:2250:14664:9842,LH00995:41:23WJ53LT4:4:2318:50786:7642,LH00995:41:23WJ53LT4:4:2318:50802:7642,LH00995:41:23WJ53LT4:5:1166:46684:23966

TMED7

TICAM2

-/-

chr5:115620435

chr5:115581315

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2127

286

low

out-of-frame

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(14)

TGTAGATTGTCGATTAGAAGATCCTGATGGTAAAGTGTTATACAAAGAGATGAAGAAACAGTATGATAGTTTTACCTTCACAGCCTCCAAAAATGGGACATACAAATTTTGCTTCAGCAATGAATTTTCTACTTTCACACATAAAACTGTATATTTTGATTTTCAAGTTGGAGAAGACCCACCTTTGTTTCCTAGTGAGAACCGAGTCAGTGCTCTTACCCAG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGAGGGGCCAACAGGAAAGCAGGAGGGAGCTCAGAGCGTGGAAGAGATGTTTGAAGAAGAAGCTGA

VDCRLEDPDGKVLYKEMKKQYDSFTFTASKNGTYKFCFSNEFSTFTHKTVYFDFQVGEDPPLFPSENRVSALTQ|iekkc*

LH00995:41:23WJ53LT4:3:2396:32648:14900,LH00995:41:23WJ53LT4:1:2235:32405:18291,LH00995:41:23WJ53LT4:3:1286:17924:13135,LH00995:41:23WJ53LT4:3:1286:17932:13149,LH00995:41:23WJ53LT4:3:1304:41563:24036,LH00995:41:23WJ53LT4:3:1304:41571:24022,LH00995:41:23WJ53LT4:3:1304:41579:24036,LH00995:41:23WJ53LT4:3:1480:7779:8034,LH00995:41:23WJ53LT4:3:1480:7788:7992,LH00995:41:23WJ53LT4:3:1480:7796:8006,LH00995:41:23WJ53LT4:3:1480:7796:8034,LH00995:41:23WJ53LT4:3:1480:7804:7992,LH00995:41:23WJ53LT4:3:1480:7804:8020,LH00995:41:23WJ53LT4:4:2139:18879:21598,LH00995:41:23WJ53LT4:4:2250:14648:9814,LH00995:41:23WJ53LT4:4:2250:14656:9828,LH00995:41:23WJ53LT4:4:2250:14664:9842,LH00995:41:23WJ53LT4:4:2318:50786:7642,LH00995:41:23WJ53LT4:4:2318:50802:7642

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

7146

5061

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(43),low_entropy(2)

TGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCTTTCCTCTCCTGCCCATTTTCCTGTTCTTCTGTCC

GNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:41:23WJ53LT4:1:1116:7658:20968,LH00995:41:23WJ53LT4:1:1231:21371:27960,LH00995:41:23WJ53LT4:1:1247:36766:29067,LH00995:41:23WJ53LT4:1:1387:35140:7025,LH00995:41:23WJ53LT4:1:1494:42995:23966,LH00995:41:23WJ53LT4:1:2285:23134:9267,LH00995:41:23WJ53LT4:1:2470:29647:4994,LH00995:41:23WJ53LT4:1:2475:21338:19384,LH00995:41:23WJ53LT4:2:1402:18321:28422,LH00995:41:23WJ53LT4:2:2365:14219:28128,LH00995:41:23WJ53LT4:2:2368:23385:7992,LH00995:41:23WJ53LT4:3:1172:28093:17633,LH00995:41:23WJ53LT4:3:1332:33481:15979,LH00995:41:23WJ53LT4:3:1418:51902:17058,LH00995:41:23WJ53LT4:3:1474:44993:21822,LH00995:41:23WJ53LT4:3:2240:34258:23938,LH00995:41:23WJ53LT4:3:2359:50948:19776,LH00995:41:23WJ53LT4:4:1169:37890:19132,LH00995:41:23WJ53LT4:4:1171:36855:26699,LH00995:41:23WJ53LT4:4:1342:36645:22859,LH00995:41:23WJ53LT4:4:1384:40754:19132,LH00995:41:23WJ53LT4:4:2112:20481:3550,LH00995:41:23WJ53LT4:5:1157:44718:15208,LH00995:41:23WJ53LT4:5:1203:40803:22495,LH00995:41:23WJ53LT4:5:1244:29679:24779,LH00995:41:23WJ53LT4:5:1424:43303:4489,LH00995:41:23WJ53LT4:5:1490:49216:14256,LH00995:41:23WJ53LT4:5:1493:1332:2443,LH00995:41:23WJ53LT4:5:2172:11185:10514,LH00995:41:23WJ53LT4:5:2268:30998:28128,LH00995:41:23WJ53LT4:5:2398:39921:24751,LH00995:41:23WJ53LT4:6:1123:39525:22775,LH00995:41:23WJ53LT4:6:1153:10061:23336,LH00995:41:23WJ53LT4:6:1178:26702:23181,LH00995:41:23WJ53LT4:6:1238:38416:22285,LH00995:41:23WJ53LT4:1:1310:49904:6983,LH00995:41:23WJ53LT4:1:1337:12666:27651,LH00995:41:23WJ53LT4:1:1357:13758:21892,LH00995:41:23WJ53LT4:1:1468:19089:13835,LH00995:41:23WJ53LT4:1:1468:19097:13849,LH00995:41:23WJ53LT4:1:2175:33522:12070,LH00995:41:23WJ53LT4:1:2331:16258:17338,LH00995:41:23WJ53LT4:1:2331:16266:17352,LH00995:41:23WJ53LT4:2:1109:14761:16568,LH00995:41:23WJ53LT4:2:1364:6153:5834,LH00995:41:23WJ53LT4:2:2271:47550:13499,LH00995:41:23WJ53LT4:2:2407:28587:3242,LH00995:41:23WJ53LT4:2:2498:5773:3382,LH00995:41:23WJ53LT4:3:1239:47259:24989,LH00995:41:23WJ53LT4:3:1251:39080:14802,LH00995:41:23WJ53LT4:3:2112:3726:2948,LH00995:41:23WJ53LT4:3:2455:19866:29081,LH00995:41:23WJ53LT4:4:1141:28571:21822,LH00995:41:23WJ53LT4:4:2443:8273:11663,LH00995:41:23WJ53LT4:4:2458:44193:5834,LH00995:41:23WJ53LT4:4:2458:44201:5820,LH00995:41:23WJ53LT4:5:1155:13111:15755,LH00995:41:23WJ53LT4:5:1181:23644:16568,LH00995:41:23WJ53LT4:5:2237:43270:13569,LH00995:41:23WJ53LT4:5:2247:6558:2892,LH00995:41:23WJ53LT4:1:1160:24162:8833,LH00995:41:23WJ53LT4:1:1160:24178:8833,LH00995:41:23WJ53LT4:1:1160:24178:8861,LH00995:41:23WJ53LT4:1:1160:24186:8847,LH00995:41:23WJ53LT4:2:1264:39177:1322,LH00995:41:23WJ53LT4:2:1264:39185:1308,LH00995:41:23WJ53LT4:3:2168:12658:18838,LH00995:41:23WJ53LT4:3:2168:12674:18838,LH00995:41:23WJ53LT4:4:1458:36369:8959,LH00995:41:23WJ53LT4:4:1458:36378:8945,LH00995:41:23WJ53LT4:6:1192:10813:10514

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

7146

4182

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(23)

TGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGGGCACTGGTCCAAAGAGTGTCCGATAGATCGTTCAGGCCGCGTGGCAGACTTGACCGAGCAATATAATGAGCAATACGGAG

GNVSAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKEGHWSKECPIDRSGRVADLTEQYNEQYG

LH00995:41:23WJ53LT4:1:1415:2278:8763,LH00995:41:23WJ53LT4:1:1483:32090:9113,LH00995:41:23WJ53LT4:1:2347:49783:11958,LH00995:41:23WJ53LT4:2:1150:42680:12014,LH00995:41:23WJ53LT4:2:1258:28126:16343,LH00995:41:23WJ53LT4:2:1377:14219:3214,LH00995:41:23WJ53LT4:3:1417:8176:5946,LH00995:41:23WJ53LT4:3:1451:2691:4629,LH00995:41:23WJ53LT4:3:1494:12504:13415,LH00995:41:23WJ53LT4:3:2126:42016:27259,LH00995:41:23WJ53LT4:4:1183:28069:8847,LH00995:41:23WJ53LT4:4:1297:39703:22215,LH00995:41:23WJ53LT4:4:2326:32486:13303,LH00995:41:23WJ53LT4:4:2342:43667:20505,LH00995:41:23WJ53LT4:5:2136:7804:11944,LH00995:41:23WJ53LT4:2:2149:23159:14186,LH00995:41:23WJ53LT4:3:1351:1720:22313,LH00995:41:23WJ53LT4:4:1125:37187:10094,LH00995:41:23WJ53LT4:5:2226:22058:13541,LH00995:41:23WJ53LT4:5:2226:22066:13555,LH00995:41:23WJ53LT4:1:1160:24162:8833,LH00995:41:23WJ53LT4:1:1160:24178:8833,LH00995:41:23WJ53LT4:1:1160:24178:8861,LH00995:41:23WJ53LT4:1:1160:24186:8847,LH00995:41:23WJ53LT4:2:1264:39177:1322,LH00995:41:23WJ53LT4:2:1264:39185:1308,LH00995:41:23WJ53LT4:3:2168:12658:18838,LH00995:41:23WJ53LT4:3:2168:12674:18838,LH00995:41:23WJ53LT4:4:1458:36369:8959,LH00995:41:23WJ53LT4:4:1458:36378:8945,LH00995:41:23WJ53LT4:6:1192:10813:10514

RBM14

RBM4

+/+

chr11:66617057

chr11:66643859

CDS/splice-site

deletion/read-through

7146

2532

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)(2%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000510173.6

downstream

upstream

duplicates(12)

CTGCGCCGTCATGAAACAGTTCGCCTTCGTGCACATGCGCGAGAACGCGGGCGCGCTGCGCGCCATCGAAGCCCTGCACGGaCACGAGCTGCGGCCGGGGCGCGCGCTCGTGGTGGAGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAG...CGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|ACACCTGTTGCCGACCTCAGGAGCTGCTGCCACAGCTGCTGCTGCAGCAGCAGCCGCTGCTGCTGTTACTGCAGCTTCCACTTCATATTACGGGCGGGATCGGAGCCCCC

ERRGRVIECDVVK|dtccrpqellpqlllqqqplllllqlplhitggiga

LH00995:41:23WJ53LT4:4:2190:7343:12070,LH00995:41:23WJ53LT4:4:2379:37397:27693,LH00995:41:23WJ53LT4:5:2387:31669:8300,LH00995:41:23WJ53LT4:1:1160:24162:8833,LH00995:41:23WJ53LT4:1:1160:24178:8833,LH00995:41:23WJ53LT4:1:1160:24178:8861,LH00995:41:23WJ53LT4:1:1160:24186:8847,LH00995:41:23WJ53LT4:2:1264:39177:1322,LH00995:41:23WJ53LT4:2:1264:39185:1308,LH00995:41:23WJ53LT4:3:2168:12658:18838,LH00995:41:23WJ53LT4:3:2168:12674:18838,LH00995:41:23WJ53LT4:4:1458:36369:8959,LH00995:41:23WJ53LT4:4:1458:36378:8945,LH00995:41:23WJ53LT4:6:1192:10813:10514

RBM14

RBM4

+/+

chr11:66625678

chr11:66665856

CDS/splice-site

deletion/read-through

1334

1304

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)(1%)

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

duplicates(3)

GCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCAAGATAACCCCTGTGACAGAAGGCTACTGTTGCTGTAACAAAGGGCATACATACATTTTCAAGAACTGCAATTTAATTTTGGAGTCCAGGAAAAGCAGAAGATGCTGAGATGTCATATATGGCGAATTGCACTATTCTAAAT

YDDPYKKAVAMSKr|qdnpcdrrllll*

LH00995:41:23WJ53LT4:1:1376:26694:3466,LH00995:41:23WJ53LT4:1:1376:26710:3466,LH00995:41:23WJ53LT4:2:1416:36175:21934,LH00995:41:23WJ53LT4:6:1219:29145:13373

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

7146

7616

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(264),read_through(336)

TGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGC

SRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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:2:1312:43230:27623,LH00995:41:23WJ53LT4:2:1315:30043:20701,LH00995:41:23WJ53LT4:2:1317:28911:6128,LH00995:41:23WJ53LT4:2:1326:16840:12070,LH00995:41:23WJ53LT4:2:1329:20052:25507,LH00995:41:23WJ53LT4:2:1329:21346:24555,LH00995:41:23WJ53LT4:2:1330:49160:4909,LH00995:41:23WJ53LT4:2:1343:41183:6255,LH00995:41:23WJ53LT4:2:1343:41199:6255,LH00995:41:23WJ53LT4:2:1344:7003:26839,LH00995:41:23WJ53LT4:2:1350:31791:18459,LH00995:41:23WJ53LT4:2:1350:31799:18445,LH00995:41:23WJ53LT4:2:1350:31815:18445,LH00995:41:23WJ53LT4:2:1358:16986:21738,LH00995:41:23WJ53LT4:2:1370:17536:9491,LH00995:41:23WJ53LT4:2:1370:17544:9505,LH00995:41:23WJ53LT4:2:1370:17552:9491,LH00995:41:23WJ53LT4:2:1382:36337:16890,LH00995:41:23WJ53LT4:2:1382:36353:16862,LH00995:41:23WJ53LT4:2:1382:36353:16890,LH00995:41:23WJ53LT4:2:1382:36361:16876,LH00995:41:23WJ53LT4:2:1383:21953:21066,LH00995:41:23WJ53LT4:2:1387:12326:7838,LH00995:41:23WJ53LT4:2:1387:7982:6591,LH00995:41:23WJ53LT4:2:1389:8419:13569,LH00995:41:23WJ53LT4:2:1395:18822:11439,LH00995:41:23WJ53LT4:2:1404:13693:8749,LH00995:41:23WJ53LT4:2:1413:36103:19678,LH00995:41:23WJ53LT4:2:1432:10959:10122,LH00995:41:23WJ53LT4:2:1432:10967:10136,LH00995:41:23WJ53LT4:2:1432:10975:10122,LH00995:41:23WJ53LT4:2:1436:18029:21220,LH00995:41:23WJ53LT4:2:1444:3209:14606,LH00995:41:23WJ53LT4:2:1449:49945:14003,LH00995:41:23WJ53LT4:2:1453:8499:29403,LH00995:41:23WJ53LT4:2:1468:4560:27371,LH00995:41:23WJ53LT4:2:1468:4568:27357,LH00995:41:23WJ53LT4:2:1469:5619:7488,LH00995:41:23WJ53LT4:2:1481:4204:11789,LH00995:41:23WJ53LT4:2:1494:10012:8455,LH00995:41:23WJ53LT4:2:1494:13434:10234,LH00995:41:23WJ53LT4:2:1498:21816:17857,LH00995:41:23WJ53LT4:2:2101:12075:25227,LH00995:41:23WJ53LT4:2:2109:19413:1589,LH00995:41:23WJ53LT4:2:2119:5280:18053,LH00995:41:23WJ53LT4:2:2124:13855:9814,LH00995:41:23WJ53LT4:2:2128:10441:2135,LH00995:41:23WJ53LT4:2:2128:5547:18936,LH00995:41:23WJ53LT4:2:2130:13887:7712,LH00995:41:23WJ53LT4:2:2134:27050:25970,LH00995:41:23WJ53LT4:2:2137:22811:22719,LH00995:41:23WJ53LT4:2:2137:45163:22509,LH00995:41:23WJ53LT4:2:2146:44379:9576,LH00995:41:23WJ53LT4:2:2146:47776:11565,LH00995:41:23WJ53LT4:2:2150:40414:4111,LH00995:41:23WJ53LT4:2:2154:37704:25059,LH00995:41:23WJ53LT4:2:2162:41280:15194,LH00995:41:23WJ53LT4:2:2164:20513:28436,LH00995:41:23WJ53LT4:2:2164:20529:28436,LH00995:41:23WJ53LT4:2:2171:40835:2766,LH00995:41:23WJ53LT4:2:2174:15044:19468,LH00995:41:23WJ53LT4:2:2182:48165:10416,LH00995:41:23WJ53LT4:2:2182:48173:10402,LH00995:41:23WJ53LT4:2:2184:21290:20281,LH00995:41:23WJ53LT4:2:2195:8038:19636,LH00995:41:23WJ53LT4:2:2198:8313:24008,LH00995:41:23WJ53LT4:2:2206:40220:29613,LH00995:41:23WJ53LT4:2:2207:31645:19440,LH00995:41:23WJ53LT4:2:2207:31653:19454,LH00995:41:23WJ53LT4:2:2207:31661:19468,LH00995:41:23WJ53LT4:2:2210:45730:19118,LH00995:41:23WJ53LT4:2:2218:42057:26544,LH00995:41:23WJ53LT4:2:2225:3289:14101,LH00995:41:23WJ53LT4:2:2226:13620:28632,LH00995:41:23WJ53LT4:2:2230:50859:29487,LH00995:41:23WJ53LT4:2:2230:50867:29473,LH00995:41:23WJ53LT4:2:2238:24712:2724,LH00995:41:23WJ53LT4:2:2238:39468:28590,LH00995:41:23WJ53LT4:2:2239:42356:2373,LH00995:41:23WJ53LT4:2:2240:41005:28450,LH00995:41:23WJ53LT4:2:2245:48537:16217,LH00995:41:23WJ53LT4:2:2252:32842:11453,LH00995:41:23WJ53LT4:2:2259:2327:23504,LH00995:41:23WJ53LT4:2:2262:14502:17717,LH00995:41:23WJ53LT4:2:2264:14065:9618,LH00995:41:23WJ53LT4:2:2265:13742:9533,LH00995:41:23WJ53LT4:2:2267:32058:13933,LH00995:41:23WJ53LT4:2:2276:10643:10837,LH00995:41:23WJ53LT4:2:2276:10651:10851,LH00995:41:23WJ53LT4:2:2276:10659:10837,LH00995:41:23WJ53LT4:2:2276:10676:10837,LH00995:41:23WJ53LT4:2:2285:22123:19678,LH00995:41:23WJ53LT4:2:2307:14195:26180,LH00995:41:23WJ53LT4:2:2307:16128:5092,LH00995:41:23WJ53LT4:2:2307:49936:23882

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

113

7616

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(12),read_through(7)

AGATTTCTCCACTTCCCCACTTCCTCTCCAGACGTCGGTCAGAGCAAGGGAAGAGGGAAAAGGTGGGGGCTGACGCCCCAAGGCCGCCCTCCTGTTCCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAA

LH00995:41:23WJ53LT4:1:1403:46919:21738,LH00995:41:23WJ53LT4:1:2222:5773:8567,LH00995:41:23WJ53LT4:3:2181:44686:26811,LH00995:41:23WJ53LT4:4:2302:47429:1462,LH00995:41:23WJ53LT4:1:1193:4325:7404,LH00995:41:23WJ53LT4:1:2405:42850:6114,LH00995:41:23WJ53LT4:2:1172:37300:16203,LH00995:41:23WJ53LT4:2:1172:37316:16203,LH00995:41:23WJ53LT4:2:1328:8241:4237,LH00995:41:23WJ53LT4:2:2317:44888:16175,LH00995:41:23WJ53LT4:2:2317:44896:16189,LH00995:41:23WJ53LT4:3:2410:7351:26320,LH00995:41:23WJ53LT4:4:1108:4139:12602,LH00995:41:23WJ53LT4:5:1305:25642:23392,LH00995:41:23WJ53LT4:5:1305:25658:23392,LH00995:41:23WJ53LT4:5:2233:23822:13261,LH00995:41:23WJ53LT4:5:2285:41620:17689,LH00995:41:23WJ53LT4:5:2487:47356:4111,LH00995:41:23WJ53LT4:6:1134:48982:16007

RBM14

RBM4

+/+

chr11:66619504

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

7616

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(4),read_through(3)

GGGGAGATCTGAAAGACAAAAGAGGAAAATATCTTCTCTTCATTTTT|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAGCTTCATGGGGTGAACATCAACGTGGAAG

LH00995:41:23WJ53LT4:1:1495:26742:5428,LH00995:41:23WJ53LT4:1:2158:51279:26180,LH00995:41:23WJ53LT4:1:2303:31936:6941,LH00995:41:23WJ53LT4:3:1221:22932:15222,LH00995:41:23WJ53LT4:3:1221:22948:15222,LH00995:41:23WJ53LT4:3:2386:15109:18740,LH00995:41:23WJ53LT4:5:2217:13264:9576

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

1334

7616

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(2),read_through(2)

GAGCGTACCCGCCTCTCCCCACCCCGGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAGCTTCATGGGGTGAACATCAAC

ERTRLSPPRASYDDPYKKAVAMSKr|llsgw*

LH00995:41:23WJ53LT4:2:2477:45438:2163,LH00995:41:23WJ53LT4:2:2477:45446:2177,LH00995:41:23WJ53LT4:2:2477:45455:2163,LH00995:41:23WJ53LT4:3:2161:7351:13373

NOTCH2

ATXN7L2

-/-

+/-

chr1:119963574

chr1:109488177

CDS/splice-site

intron

deletion/5'-5'

10185

medium

out-of-frame

Calcium-binding_EGF_domain(76%),EGF-like_domain(37%),Human_growth_factor-like_EGF(75%)|

ENSG00000134250.20

ENSG00000162650.16

ENST00000256646.7

upstream

downstream

duplicates(31)

GCCAGTGTGCCACAG___GTTTCACTGGTGTGTTGTGTGAGGAGAACATTGACAACTGTGACCCCGATCCTTGCCACCATGGTCAGTGTCAGGATGGTATTGATTCCTACACCTGCATCTGCAATCCCGGGTACATGGGCGCCATCTGCAGTGACCAGATTGATGAATGTTACAGCAGCCCTTGCCTGAACGATGGTCGCTGCATTGACCTGGTCAATGGCTACCAGTGCAACTGCCAGCCAGGCACGTCAG|GTGCGCCTTTTGGGACTTCAAGCCCAAAGCAGGGCAACACACATCAAGAAACAAAAGCAGCCATGGGCATCTGGGAGGCCAGAGAAGCCAGCTGTGAGATGTGTCTGGCTGGCGCCCTGGATCTAG

QCATGFTGVLCEENIDNCDPDPCHHGQCQDGIDSYTCICNPGYMGAICSDQIDECYSSPCLNDGRCIDLVNGYQCNCQPGTS|gapfgtsspkqgnthqetkaamgiweareascemclagaldl

LH00995:41:23WJ53LT4:3:1465:37373:20141,LH00995:41:23WJ53LT4:4:1266:32009:17268,LH00995:41:23WJ53LT4:4:1459:14769:1560,LH00995:41:23WJ53LT4:1:1129:39929:27904,LH00995:41:23WJ53LT4:1:1250:14575:2037,LH00995:41:23WJ53LT4:1:1294:6372:20561,LH00995:41:23WJ53LT4:1:1328:42049:7362,LH00995:41:23WJ53LT4:1:1328:42057:7348,LH00995:41:23WJ53LT4:1:1336:23911:26867,LH00995:41:23WJ53LT4:1:2182:18474:29585,LH00995:41:23WJ53LT4:1:2354:9842:15699,LH00995:41:23WJ53LT4:2:1165:34315:14059,LH00995:41:23WJ53LT4:2:1165:34323:14073,LH00995:41:23WJ53LT4:2:1238:14688:16357,LH00995:41:23WJ53LT4:2:1398:23644:28338,LH00995:41:23WJ53LT4:2:2158:19906:4601,LH00995:41:23WJ53LT4:2:2158:19914:4615,LH00995:41:23WJ53LT4:2:2170:13095:23882,LH00995:41:23WJ53LT4:2:2336:31071:14214,LH00995:41:23WJ53LT4:3:1238:17617:23139,LH00995:41:23WJ53LT4:3:1433:24081:5666,LH00995:41:23WJ53LT4:3:1492:39468:21948,LH00995:41:23WJ53LT4:3:2121:34784:16105,LH00995:41:23WJ53LT4:3:2169:42486:12854,LH00995:41:23WJ53LT4:3:2263:2958:15937,LH00995:41:23WJ53LT4:4:1152:48351:5218,LH00995:41:23WJ53LT4:4:1152:48367:5218,LH00995:41:23WJ53LT4:4:1182:49945:19188,LH00995:41:23WJ53LT4:4:1246:46191:11341,LH00995:41:23WJ53LT4:4:1301:49071:7642,LH00995:41:23WJ53LT4:4:2214:36119:13625,LH00995:41:23WJ53LT4:4:2356:18321:2471,LH00995:41:23WJ53LT4:4:2356:51805:9716,LH00995:41:23WJ53LT4:4:2490:34590:25578,LH00995:41:23WJ53LT4:5:1135:11614:5092,LH00995:41:23WJ53LT4:5:1249:2432:12336,LH00995:41:23WJ53LT4:5:1282:15691:23980,LH00995:41:23WJ53LT4:5:1404:22964:23994,LH00995:41:23WJ53LT4:5:2288:21209:5092,LH00995:41:23WJ53LT4:5:2288:21217:5106,LH00995:41:23WJ53LT4:5:2307:36127:20925,LH00995:41:23WJ53LT4:5:2328:24849:26446,LH00995:41:23WJ53LT4:5:2328:24857:26460,LH00995:41:23WJ53LT4:6:1190:40398:16806,LH00995:41:23WJ53LT4:6:1227:17034:28352,LH00995:41:23WJ53LT4:2:2481:1655:28786,LH00995:41:23WJ53LT4:2:2481:1671:28786,LH00995:41:23WJ53LT4:3:1303:23442:6689,LH00995:41:23WJ53LT4:4:2451:47509:10374

NOTCH2

PSMA5(35560),SYPL2(4538)

-/-

./-

chr1:119963574

chr1:109462008

CDS/splice-site

intergenic

deletion

10185

medium

out-of-frame

Calcium-binding_EGF_domain(76%),EGF-like_domain(37%),Human_growth_factor-like_EGF(75%)|

ENSG00000134250.20

ENST00000256646.7

upstream

downstream

duplicates(39),mismatches(1)

GTCAGGATGGTATTGATTCCTACACCTGCATCTGCAATCCCGGGTACATGGGCGCCATCTGCAGTGACCAGATTGATGAATGTTACAGCAGCCCTTGCCTGAACGATGGTCGCTGCATTGACCTGGTCAATGGCTACCAGTGCAACTGCCAGCCAGGCACGTCAG|ATCATGCTTTTGGCATCCTGTCTAAAAAACTCTTTGCCTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAAGAAATCGAGACCATgCTGGCCAACATGGTGAAACCCCCTCTCTACTAAAAATACAAAAATCAGCTGGGCAAGGTGGCAAGCGCCTGTAGTCCCAGC

QDGIDSYTCICNPGYMGAICSDQIDECYSSPCLNDGRCIDLVNGYQCNCQPGTS|dhafgilskklfafgrprwadhevkksrpcwptw*

LH00995:41:23WJ53LT4:2:1186:35415:29417,LH00995:41:23WJ53LT4:2:2192:26144:20309,LH00995:41:23WJ53LT4:4:1222:18240:3929,LH00995:41:23WJ53LT4:4:1292:31378:7488,LH00995:41:23WJ53LT4:4:2240:23070:5652,LH00995:41:23WJ53LT4:5:2111:11622:4377,LH00995:41:23WJ53LT4:5:2111:11630:4363,LH00995:41:23WJ53LT4:5:2458:33578:10038,LH00995:41:23WJ53LT4:1:1165:38060:23938,LH00995:41:23WJ53LT4:1:1224:25642:25101,LH00995:41:23WJ53LT4:1:1348:25836:19636,LH00995:41:23WJ53LT4:1:1396:26807:20785,LH00995:41:23WJ53LT4:1:1470:21427:28422,LH00995:41:23WJ53LT4:1:1470:21435:28408,LH00995:41:23WJ53LT4:1:2227:35884:17282,LH00995:41:23WJ53LT4:1:2269:22107:25171,LH00995:41:23WJ53LT4:1:2324:20392:24779,LH00995:41:23WJ53LT4:1:2415:21702:24190,LH00995:41:23WJ53LT4:1:2431:8402:25984,LH00995:41:23WJ53LT4:1:2478:4592:20617,LH00995:41:23WJ53LT4:1:2496:5231:28310,LH00995:41:23WJ53LT4:2:1244:28943:25578,LH00995:41:23WJ53LT4:2:1268:42890:16301,LH00995:41:23WJ53LT4:2:1302:48642:5190,LH00995:41:23WJ53LT4:2:2188:39800:18319,LH00995:41:23WJ53LT4:2:2214:40649:11972,LH00995:41:23WJ53LT4:2:2267:25108:26026,LH00995:41:23WJ53LT4:2:2392:20109:7306,LH00995:41:23WJ53LT4:3:1223:14874:16848,LH00995:41:23WJ53LT4:3:1292:51223:22719,LH00995:41:23WJ53LT4:3:1468:41094:11733,LH00995:41:23WJ53LT4:3:2103:46644:24288,LH00995:41:23WJ53LT4:3:2148:46668:26937,LH00995:41:23WJ53LT4:3:2165:44621:16161,LH00995:41:23WJ53LT4:3:2165:48003:11789,LH00995:41:23WJ53LT4:3:2412:13475:11958,LH00995:41:23WJ53LT4:3:2472:3718:7754,LH00995:41:23WJ53LT4:3:2498:14745:23266,LH00995:41:23WJ53LT4:4:1131:20408:12756,LH00995:41:23WJ53LT4:4:1139:19081:19006,LH00995:41:23WJ53LT4:4:1239:45163:19342,LH00995:41:23WJ53LT4:4:1310:8952:3648,LH00995:41:23WJ53LT4:4:1342:7521:23420,LH00995:41:23WJ53LT4:4:1358:43578:13009,LH00995:41:23WJ53LT4:4:2142:33926:12014,LH00995:41:23WJ53LT4:4:2265:11695:26923,LH00995:41:23WJ53LT4:4:2432:32422:28016,LH00995:41:23WJ53LT4:4:2483:27697:25073,LH00995:41:23WJ53LT4:4:2483:27705:25087,LH00995:41:23WJ53LT4:5:1319:10886:29193,LH00995:41:23WJ53LT4:5:1403:35391:24863,LH00995:41:23WJ53LT4:5:2343:19089:3718,LH00995:41:23WJ53LT4:5:2472:48634:14228,LH00995:41:23WJ53LT4:6:1167:41976:7852,LH00995:41:23WJ53LT4:3:1388:12237:27161,LH00995:41:23WJ53LT4:3:1388:12253:27161,LH00995:41:23WJ53LT4:4:2386:5102:12700,LH00995:41:23WJ53LT4:4:2386:5118:12700

PODXL2

+/+

chr3:127629257

chr3:127629246

CDS

duplication/ITD

105

216

medium

|CD34/Podocalyxin_family(100%)

ENSG00000114631.11

ENST00000342480.7

downstream

upstream

duplicates(33),low_entropy(5)

GGCCGGCTGCTGCGGGCCGCCCGGCTGCCGCCGCT...|GCTttCGCCGCTGCTTTCGCCGCTGCTGCTTCTGCTGGTTGGGG___GAGCGTTCCTGGGTGCCTGTGTGGCTGGGTCTGATGAGCCTGGCCCAGAGGGCCTCACCTCCACCTCCCTGCTAGACCTCCTGCTGCCCACTGGCTTGGAGCCACTGGACTCAGAGGAGCCTAGTGAGACCATGG

LH00995:41:23WJ53LT4:1:1494:14510:14928,LH00995:41:23WJ53LT4:1:2269:23490:5764,LH00995:41:23WJ53LT4:1:2311:33368:3704,LH00995:41:23WJ53LT4:1:2405:13467:14522,LH00995:41:23WJ53LT4:2:1118:15319:21598,LH00995:41:23WJ53LT4:2:1407:9317:1140,LH00995:41:23WJ53LT4:2:1407:9333:1140,LH00995:41:23WJ53LT4:2:1459:46086:14270,LH00995:41:23WJ53LT4:2:1461:18377:11453,LH00995:41:23WJ53LT4:2:2128:1866:1238,LH00995:41:23WJ53LT4:2:2128:1874:1224,LH00995:41:23WJ53LT4:2:2138:12803:11131,LH00995:41:23WJ53LT4:2:2175:15255:4167,LH00995:41:23WJ53LT4:2:2363:18507:8118,LH00995:41:23WJ53LT4:3:1123:14672:21654,LH00995:41:23WJ53LT4:3:1169:32705:11635,LH00995:41:23WJ53LT4:3:1337:12116:4139,LH00995:41:23WJ53LT4:4:2194:14737:6437,LH00995:41:23WJ53LT4:4:2194:14753:6437,LH00995:41:23WJ53LT4:4:2474:13006:4027,LH00995:41:23WJ53LT4:4:2474:13014:4013,LH00995:41:23WJ53LT4:4:2474:13022:4027,LH00995:41:23WJ53LT4:5:2154:15797:19510,LH00995:41:23WJ53LT4:5:2248:17730:21234,LH00995:41:23WJ53LT4:5:2248:17746:21234,LH00995:41:23WJ53LT4:5:2436:45576:16357,LH00995:41:23WJ53LT4:5:2457:33692:17296,LH00995:41:23WJ53LT4:5:2457:33700:17282,LH00995:41:23WJ53LT4:5:2457:34598:5778,LH00995:41:23WJ53LT4:5:2466:45608:19973,LH00995:41:23WJ53LT4:6:1112:25375:19594,LH00995:41:23WJ53LT4:6:1129:32826:28324,LH00995:41:23WJ53LT4:6:1160:39525:4447,LH00995:41:23WJ53LT4:1:1146:3565:13737,LH00995:41:23WJ53LT4:1:1236:12132:26334,LH00995:41:23WJ53LT4:1:1292:11040:23069,LH00995:41:23WJ53LT4:1:1361:38012:1238,LH00995:41:23WJ53LT4:1:1380:23514:15727,LH00995:41:23WJ53LT4:1:2278:37996:8020,LH00995:41:23WJ53LT4:1:2338:32381:25115,LH00995:41:23WJ53LT4:1:2454:36289:22103,LH00995:41:23WJ53LT4:2:1249:40584:26572,LH00995:41:23WJ53LT4:2:1445:41919:11930,LH00995:41:23WJ53LT4:2:2163:32381:7292,LH00995:41:23WJ53LT4:2:2179:26823:8314,LH00995:41:23WJ53LT4:2:2179:43869:19454,LH00995:41:23WJ53LT4:2:2218:20311:9954,LH00995:41:23WJ53LT4:3:1274:18102:22411,LH00995:41:23WJ53LT4:3:2110:7974:25578,LH00995:41:23WJ53LT4:3:2239:33514:21556,LH00995:41:23WJ53LT4:4:1432:50899:25774,LH00995:41:23WJ53LT4:4:1463:39209:5470,LH00995:41:23WJ53LT4:4:1463:44670:3662,LH00995:41:23WJ53LT4:4:2442:50406:20267,LH00995:41:23WJ53LT4:5:2129:34727:28983,LH00995:41:23WJ53LT4:5:2394:15740:21094

CEP164

+/+

chr11:117356021

chr11:117356013

CDS

duplication/ITD

medium

ENSG00000110274.16

ENST00000639320.1

downstream

upstream

duplicates(5),low_entropy(2)

CCGAGGAGCCTCCTGCCAGTGAGAAGAGACAGGCCCTAGGGTCTGCAGAGCTCCCTTATAAAGATCAGAAGCCTAGCTTGTCTGGGCCTGACTTGGAGAGCAGCAGCAGCAGCAGCAGCA|GCAGCAGCAACAGCAACCTGGCCTCACACCTGGGCTCTCCTGTCCTGGATGAGGTGAACAACTTCCCTTGGAACCTGCAGAGCTCACGGGGATCTGAGGAGGGTATGGCTCAGTCAGACTtGGGTCTCAG

LH00995:41:23WJ53LT4:2:2440:27875:11677,LH00995:41:23WJ53LT4:2:2440:27875:11677,LH00995:41:23WJ53LT4:3:1105:33967:1322,LH00995:41:23WJ53LT4:3:1382:15287:12350,LH00995:41:23WJ53LT4:3:2377:31944:27581,LH00995:41:23WJ53LT4:3:2377:31944:27581,LH00995:41:23WJ53LT4:5:1107:26799:10374,LH00995:41:23WJ53LT4:6:1145:41490:13681,LH00995:41:23WJ53LT4:6:1145:41499:13695,LH00995:41:23WJ53LT4:3:1105:33967:1322,LH00995:41:23WJ53LT4:3:1382:15287:12350,LH00995:41:23WJ53LT4:3:2131:16687:21052,LH00995:41:23WJ53LT4:4:1154:34994:9211,LH00995:41:23WJ53LT4:4:1489:4875:18669,LH00995:41:23WJ53LT4:5:1107:26799:10374,LH00995:41:23WJ53LT4:5:2165:36636:29039,LH00995:41:23WJ53LT4:5:2171:27673:27693,LH00995:41:23WJ53LT4:5:2256:21249:10598,LH00995:41:23WJ53LT4:5:2276:11169:15335,LH00995:41:23WJ53LT4:5:2311:15255:21458,LH00995:41:23WJ53LT4:5:2332:34525:6269,LH00995:41:23WJ53LT4:5:2348:15942:22901,LH00995:41:23WJ53LT4:6:1145:41490:13681,LH00995:41:23WJ53LT4:6:1145:41499:13695

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

GGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTG

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

LH00995:41:23WJ53LT4:1:1163:12819:18109,LH00995:41:23WJ53LT4:1:1180:16055:20743,LH00995:41:23WJ53LT4:1:1239:25092:27371,LH00995:41:23WJ53LT4:1:1417:15117:1715,LH00995:41:23WJ53LT4:1:1484:49839:24106,LH00995:41:23WJ53LT4:1:1484:49856:24106,LH00995:41:23WJ53LT4:1:1484:49864:24120,LH00995:41:23WJ53LT4:1:2154:50268:21486,LH00995:41:23WJ53LT4:1:2154:50333:28548,LH00995:41:23WJ53LT4:1:2302:41798:11607,LH00995:41:23WJ53LT4:1:2426:18798:19804,LH00995:41:23WJ53LT4:2:1205:49370:10991,LH00995:41:23WJ53LT4:2:1240:41199:11607,LH00995:41:23WJ53LT4:2:1267:14656:23756,LH00995:41:23WJ53LT4:2:1274:31459:1743,LH00995:41:23WJ53LT4:2:1335:44233:10781,LH00995:41:23WJ53LT4:2:1335:44241:10795,LH00995:41:23WJ53LT4:2:1398:40601:12700,LH00995:41:23WJ53LT4:2:1398:40609:12686,LH00995:41:23WJ53LT4:2:1432:31734:21500,LH00995:41:23WJ53LT4:2:2160:2068:15937,LH00995:41:23WJ53LT4:2:2308:23280:26530,LH00995:41:23WJ53LT4:2:2347:28029:11691,LH00995:41:23WJ53LT4:2:2412:26370:11789,LH00995:41:23WJ53LT4:3:1357:31944:20883,LH00995:41:23WJ53LT4:3:1447:30828:22060,LH00995:41:23WJ53LT4:3:1479:13540:8286,LH00995:41:23WJ53LT4:3:1479:13548:8300,LH00995:41:23WJ53LT4:3:2129:43602:18768,LH00995:41:23WJ53LT4:3:2198:13362:3382,LH00995:41:23WJ53LT4:3:2205:41482:7502,LH00995:41:23WJ53LT4:3:2219:50357:29291,LH00995:41:23WJ53LT4:3:2257:16047:24681,LH00995:41:23WJ53LT4:4:1206:19049:13905,LH00995:41:23WJ53LT4:4:1206:19057:13919,LH00995:41:23WJ53LT4:4:1354:10417:4419,LH00995:41:23WJ53LT4:4:1364:43982:12644,LH00995:41:23WJ53LT4:4:1454:12002:3130,LH00995:41:23WJ53LT4:4:1454:12010:3116,LH00995:41:23WJ53LT4:4:2147:40625:2373,LH00995:41:23WJ53LT4:4:2341:31613:28100,LH00995:41:23WJ53LT4:4:2398:21079:2681,LH00995:41:23WJ53LT4:5:1140:15085:18109,LH00995:41:23WJ53LT4:5:1217:4406:13821,LH00995:41:23WJ53LT4:5:1266:37688:16960,LH00995:41:23WJ53LT4:5:2206:24938:15839,LH00995:41:23WJ53LT4:5:2424:27082:22915,LH00995:41:23WJ53LT4:6:1116:20505:7263,LH00995:41:23WJ53LT4:1:1197:27980:15307,LH00995:41:23WJ53LT4:1:1335:10821:3214,LH00995:41:23WJ53LT4:1:1363:5644:19804,LH00995:41:23WJ53LT4:1:2223:20416:13191,LH00995:41:23WJ53LT4:1:2292:49119:2738,LH00995:41:23WJ53LT4:1:2346:21929:1406,LH00995:41:23WJ53LT4:2:1286:33740:6619,LH00995:41:23WJ53LT4:2:1475:51700:27273,LH00995:41:23WJ53LT4:2:2181:9859:13485,LH00995:41:23WJ53LT4:2:2203:14454:10907,LH00995:41:23WJ53LT4:2:2346:12035:21710,LH00995:41:23WJ53LT4:2:2352:14454:16848,LH00995:41:23WJ53LT4:2:2410:34387:5386,LH00995:41:23WJ53LT4:3:1394:28312:29585,LH00995:41:23WJ53LT4:3:1394:28328:29585,LH00995:41:23WJ53LT4:3:2132:34832:7698,LH00995:41:23WJ53LT4:3:2143:2594:24387,LH00995:41:23WJ53LT4:3:2194:6881:15895,LH00995:41:23WJ53LT4:3:2194:6890:15909,LH00995:41:23WJ53LT4:3:2238:19809:18109,LH00995:41:23WJ53LT4:3:2259:1809:1448,LH00995:41:23WJ53LT4:4:1147:41369:26727,LH00995:41:23WJ53LT4:4:2304:22511:27189,LH00995:41:23WJ53LT4:4:2442:42162:27399,LH00995:41:23WJ53LT4:5:1101:8249:27848,LH00995:41:23WJ53LT4:5:1129:33918:11271,LH00995:41:23WJ53LT4:5:1331:20157:3186,LH00995:41:23WJ53LT4:5:1446:40034:16624,LH00995:41:23WJ53LT4:5:2394:1405:2009

SPATA13

+/+

chr13:24017701

chr13:24222819

exon/splice-site

5'UTR/splice-site

deletion/read-through

395

medium

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

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

duplicates(11)

AGTCATATTCGCTGCCTGTGCAGCACCACAGGCCTGATGAAAATGAAATGGCAACACCGTGCAGATGGCAAAGCGTAGGCCTCACAAACATCCTGGCCGTGAAG___AGCTTGTCTTCAAGAGTAGCTGGTGCAGAAACTCG|CCCGTGGCCACCCAGGAGCCCGATGTGCAAGGCAGGTGTGAGTGCCAGGACGGCATTCCTGGAGATGAAGGCCTGGAGCTGCGGTCTGCGGACTCGGCAGTGCCCGTGGCCATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGACCTGAAAGACGCCAAGATGGTGACCTCCCTTGCGTGTGGAAATGGAGTCTGTGGCTGCAGCCCTGGTGGCGACACGGACACCCAGGAAGCCAAACTCAGCC

LH00995:41:23WJ53LT4:5:2456:5903:11930,LH00995:41:23WJ53LT4:1:1107:9025:27203,LH00995:41:23WJ53LT4:1:1247:29509:17647,LH00995:41:23WJ53LT4:1:1247:29525:17647,LH00995:41:23WJ53LT4:1:1247:29533:17661,LH00995:41:23WJ53LT4:2:1369:20376:24078,LH00995:41:23WJ53LT4:2:1374:41369:16526,LH00995:41:23WJ53LT4:2:1374:41377:16540,LH00995:41:23WJ53LT4:2:2494:8564:22929,LH00995:41:23WJ53LT4:3:1179:24866:4083,LH00995:41:23WJ53LT4:3:1274:27195:16133,LH00995:41:23WJ53LT4:3:2102:27195:1673,LH00995:41:23WJ53LT4:3:2102:27212:1673,LH00995:41:23WJ53LT4:3:2170:29113:14410,LH00995:41:23WJ53LT4:4:1230:37761:4055,LH00995:41:23WJ53LT4:4:2234:33239:9281,LH00995:41:23WJ53LT4:4:2235:29614:19146,LH00995:41:23WJ53LT4:5:1235:13847:2709,LH00995:41:23WJ53LT4:5:1405:4867:20561,LH00995:41:23WJ53LT4:5:1463:3419:13933,LH00995:41:23WJ53LT4:5:1463:3419:13961,LH00995:41:23WJ53LT4:5:1463:3427:13947,LH00995:41:23WJ53LT4:5:1463:3427:13975,LH00995:41:23WJ53LT4:5:2143:13014:2415,LH00995:41:23WJ53LT4:5:2481:12108:11467,LH00995:41:23WJ53LT4:5:2481:12116:11453,LH00995:41:23WJ53LT4:5:2339:35455:13401

SPATA13

+/+

chr13:23983933

chr13:24222819

exon/splice-site

5'UTR/splice-site

deletion/read-through

395

low

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

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

duplicates(2)

GAGTCATATTCGCTGCCTGTGCAGCACCACAGGCCTGATGAAAATGAAATGGCAACACCGTGCAGATGGCAAAGCGTAGGCCTCACAAACATCCTGGCCGTGAAG|CCCGTGGCCACCCAGGAGCCCGATGTGCAAGGCAGGTGTGAGTGCCAGGACGGCATTCCTGGAGATGAAGGCCTGGAGCTGCGGTCTGCGGACTCGGCAGTGCCCGTGGCCATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGACCTGAAAGACGCCAAGATGGTGACCTCCCTTGCGTGTGGAAATG

LH00995:41:23WJ53LT4:1:1108:29477:3074,LH00995:41:23WJ53LT4:2:1485:21411:15587,LH00995:41:23WJ53LT4:3:2221:10676:15321,LH00995:41:23WJ53LT4:3:2221:10692:15321,LH00995:41:23WJ53LT4:4:2328:15845:23266

SPATA13

+/+

chr13:24033769

chr13:24222819

exon/splice-site

5'UTR/splice-site

deletion/read-through

395

low

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

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

duplicates(5)

GGGGCTCACGAAGGTTGTGGATCCTTGCCCAGCCTGCAGTGGGGACCTGGTGTGGCAcTGAGTGGCTGTGAGTGCTCAGTGTCCCCCATCTCATGCTAAGCACAGCGAAGTAGGGGGAGATTGCGTAGTGTGCTGATGGAGCAGTcGCCTCCACCTGGCTGCGTGTCCCTCCGTCATGTGACAG|CCCGTGGCCACCCAGGAGCCCGATGTGCAAGGCAGGTGTGAGTGCCAGGACG...AGCTGCGGTCTGCGGACTCGGCAGTGCCCGTGGCCATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGACCTGAAAGACGCCAAGATGGTGACC

LH00995:41:23WJ53LT4:2:2269:38764:13135,LH00995:41:23WJ53LT4:2:2269:38772:13121,LH00995:41:23WJ53LT4:3:1416:1607:3424,LH00995:41:23WJ53LT4:4:2171:49896:26951,LH00995:41:23WJ53LT4:4:1153:14672:21738,LH00995:41:23WJ53LT4:4:1153:14680:21724,LH00995:41:23WJ53LT4:4:1153:14680:21752,LH00995:41:23WJ53LT4:5:2339:35455:13401

SPATA13

+/+

chr13:24017701

chr13:24249477

exon/splice-site

CDS/splice-site

deletion/read-through

949

low

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

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

duplicates(2)

AGAGCTTGTCTTCAAGAGTAGCTGGTGCAGAAACTCG|GTCGTCCCTGATGGCCCCTGGAGGCGAAGCTCATCACAGGATGAGGAAAGGACAGAGGCACAGAGAACCCCCAAGAGGAGATGGGGCTCTGGGAGACGGCCAAGGCC...CCAGAAGGAAGACCGTGTGGACGAGGACCCCCAGGCAAGCATGACTTCTGCCAGCCCTGAAGACCAGAATGCTCCAGTGGGCTGCCCCAAAGGAGCCCGGAGAAGGCGCCCCATTTCCGTGATAGGTGGGGTCAGCTTGTATGGGACCAAC

LH00995:41:23WJ53LT4:1:1152:27721:19370,LH00995:41:23WJ53LT4:1:1152:27737:19370,LH00995:41:23WJ53LT4:5:1105:36297:21136,LH00995:41:23WJ53LT4:5:1105:36305:21150

SPATA13

+/+

chr13:24017701

chr13:24251718

exon/splice-site

CDS/splice-site

deletion/read-through

1186

low

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

ENSG00000228741.2

ENSG00000182957.16

ENST00000439928.2

ENST00000382108.8

downstream

upstream

GAGTAGCTGGTGCAGAAACTCG|CCGGCTTCCAGGCCGCCCATGCCTGCTCACCAGGTGCCACCCTACAAGGCTGTGTCGGCCCGGTTCCGGCCCTTCACATTCTCCCAGAGCACCCCCATTGGGTTGGACCGTGTGGGACGCCGG

LH00995:41:23WJ53LT4:3:2426:44330:23616

PCDHGA4

PCDHGA8

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

ACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCCCTCACCGCGGACTCGCGGAAGAGTCACCTGATCTTCTCCCAACCCAGCTATGCAGACACGCTCATCAGCCGGGAGAGTTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACAAAAGGAGACCCTAATCTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCC

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

LH00995:41:23WJ53LT4:1:1256:32017:15236,LH00995:41:23WJ53LT4:1:1257:2391:29445,LH00995:41:23WJ53LT4:1:1363:40431:1336,LH00995:41:23WJ53LT4:1:1417:1089:18389,LH00995:41:23WJ53LT4:1:2189:22196:18487,LH00995:41:23WJ53LT4:1:2191:18272:23742,LH00995:41:23WJ53LT4:1:2191:18288:23742,LH00995:41:23WJ53LT4:1:2331:25950:28072,LH00995:41:23WJ53LT4:1:2351:9883:10192,LH00995:41:23WJ53LT4:2:1147:10279:5918,LH00995:41:23WJ53LT4:2:1150:19008:11649,LH00995:41:23WJ53LT4:2:1178:16606:29011,LH00995:41:23WJ53LT4:2:1314:35544:9015,LH00995:41:23WJ53LT4:2:1318:17277:16610,LH00995:41:23WJ53LT4:2:1405:25844:22425,LH00995:41:23WJ53LT4:2:1405:25861:22425,LH00995:41:23WJ53LT4:2:2257:39557:20841,LH00995:41:23WJ53LT4:3:1457:19995:5596,LH00995:41:23WJ53LT4:3:1457:20012:5596,LH00995:41:23WJ53LT4:3:1498:48990:10865,LH00995:41:23WJ53LT4:3:2440:34023:11061,LH00995:41:23WJ53LT4:3:2480:32389:3943,LH00995:41:23WJ53LT4:4:1208:38424:6297,LH00995:41:23WJ53LT4:4:1271:11557:26432,LH00995:41:23WJ53LT4:4:2115:51813:5358,LH00995:41:23WJ53LT4:4:2218:29493:24232,LH00995:41:23WJ53LT4:4:2244:30901:1280,LH00995:41:23WJ53LT4:4:2403:35091:18347,LH00995:41:23WJ53LT4:5:1134:29752:10865,LH00995:41:23WJ53LT4:5:1166:4924:23153,LH00995:41:23WJ53LT4:5:1229:36078:7390,LH00995:41:23WJ53LT4:5:1245:6250:10262,LH00995:41:23WJ53LT4:5:1277:32147:26671,LH00995:41:23WJ53LT4:5:1350:21816:24387,LH00995:41:23WJ53LT4:5:1365:43044:24919,LH00995:41:23WJ53LT4:5:1368:23401:18053,LH00995:41:23WJ53LT4:5:1435:37559:9954,LH00995:41:23WJ53LT4:5:1451:2667:17422,LH00995:41:23WJ53LT4:5:2160:11485:11509,LH00995:41:23WJ53LT4:5:2250:27608:3116,LH00995:41:23WJ53LT4:5:2370:46676:16974,LH00995:41:23WJ53LT4:1:2433:1680:27539,LH00995:41:23WJ53LT4:2:1365:36685:27161,LH00995:41:23WJ53LT4:3:2362:48715:23504,LH00995:41:23WJ53LT4:3:2465:48852:10795,LH00995:41:23WJ53LT4:3:2495:5320:26642,LH00995:41:23WJ53LT4:4:2163:14834:15545,LH00995:41:23WJ53LT4:4:2259:47129:2205,LH00995:41:23WJ53LT4:5:1214:23118:13835,LH00995:41:23WJ53LT4:5:1391:5045:16806,LH00995:41:23WJ53LT4:5:2460:7561:21304,LH00995:41:23WJ53LT4:5:2493:42874:25465

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGA10

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGA11

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGB6

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGA9

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA4

PCDHGC5

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

134

7088

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(59),mismappers(2)

DGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQF

PCDHGA4

PCDHGC4

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA4

PCDHGB7

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

PCDHGA4

PCDHGC3

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

NOTCH2

CYB561D1

-/-

+/-

chr1:119959426

chr1:109495102

CDS

intron

deletion/5'-5'

6324

158

medium

out-of-frame

Calcium-binding_EGF_domain(76%),EGF-like_domain(39%),Human_growth_factor-like_EGF(75%)|

ENSG00000134250.20

ENSG00000174151.15

ENST00000256646.7

upstream

downstream

duplicates(8),low_entropy(1),mismatches(1)

CTCCTGTATCTTCCTGAACGAGTCTGTGGACTGCATTTTGAGAACTTCTGCTTTATTCTGTCCAGGGTTGGCTGGAATTCACCTTAGATTTCTTACCACGTTGCTGCATCACAAGCAGAAAGCCTTAGTATTTCTGTGGTAACATTGAATGGTTTCCGTTGGGTTTTCTCTTCCAGGGGTTAATTGTGAAATTAATTTTGATGACTGTGCAAGTAACCCTTGTATCCATGGAATCTGTATGGATGGCATTAAT|GTTCCTGCCCCTGTAGCTAGGTGGAACCCAAAGAATCTAGCCACAGGAGAAAAGTACCATCCCCAATCCTAATCGGGCACAGGAACTAAGGACAAAGTGGAGCAGCCAAGGAGCCCCAGGGTGAGCAACCAAGAGGGCCTCCT

sciflnesvdcilrtsalfcpglagihlrflttllhhkqkalvflw*h*mvsvgfslpGVNCEINFDDCASNPCIHGICMDGIN|vpapvarwnpknlatgekyhpqs*

LH00995:41:23WJ53LT4:2:2241:15805:13695,LH00995:41:23WJ53LT4:5:2125:8491:7810,LH00995:41:23WJ53LT4:5:2439:35585:28450,LH00995:41:23WJ53LT4:1:2323:24412:5120,LH00995:41:23WJ53LT4:1:2323:24421:5106,LH00995:41:23WJ53LT4:1:2364:1607:18922,LH00995:41:23WJ53LT4:1:2438:5749:5526,LH00995:41:23WJ53LT4:2:1359:19639:5932,LH00995:41:23WJ53LT4:2:1359:19647:5946,LH00995:41:23WJ53LT4:2:1359:19656:5932,LH00995:41:23WJ53LT4:2:2236:8508:7418,LH00995:41:23WJ53LT4:3:2101:12690:22593,LH00995:41:23WJ53LT4:3:2352:43473:8342,LH00995:41:23WJ53LT4:4:1389:11363:27217,LH00995:41:23WJ53LT4:5:1271:33336:18305,LH00995:41:23WJ53LT4:5:1271:33352:18305,LH00995:41:23WJ53LT4:5:1460:35043:16077,LH00995:41:23WJ53LT4:5:2450:50147:29011,LH00995:41:23WJ53LT4:6:1198:50988:9001,LH00995:41:23WJ53LT4:3:2262:47453:29669

PCDHGA4

PCDHGA12

+/+

chr5:141357621

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

112

7088

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(35),mismappers(1)

GVRAFLQTYSHEVSLTADSRKSHLIFSQPSYADTLISRESCEKSEPLLITQDLLETKGDPNLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTW

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

EZR

./-

-/-

chr4:189268998

chr6:158769418

intergenic

CDS/splice-site

translocation

65535

medium

|Ezrin/radixin/moesin_family_C_terminal(67%)

ENSG00000092820.18

ENST00000367075.4

upstream

downstream

duplicates(35),mismappers(3)

GAGAGAGAGAGAGAGAGGAGCAGCTG|GCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGG___GCCAAAGAAGCCCAGGATGACCTGGTGAAGACCAAGGAGGAGCTGCACCTGGTGATGACAGCACCCCCGCCC

LH00995:41:23WJ53LT4:1:1284:29501:7207,LH00995:41:23WJ53LT4:1:1433:32098:20449,LH00995:41:23WJ53LT4:1:1433:33133:18571,LH00995:41:23WJ53LT4:1:1433:33214:18543,LH00995:41:23WJ53LT4:1:2108:38562:13821,LH00995:41:23WJ53LT4:1:2128:1485:21766,LH00995:41:23WJ53LT4:1:2239:24453:18277,LH00995:41:23WJ53LT4:1:2371:17358:14424,LH00995:41:23WJ53LT4:1:2387:28668:7922,LH00995:41:23WJ53LT4:1:2491:21322:2766,LH00995:41:23WJ53LT4:2:1122:16881:14382,LH00995:41:23WJ53LT4:2:1133:38465:26012,LH00995:41:23WJ53LT4:2:1191:16929:5526,LH00995:41:23WJ53LT4:2:1236:25909:15587,LH00995:41:23WJ53LT4:2:1242:15465:28660,LH00995:41:23WJ53LT4:2:1335:20416:25802,LH00995:41:23WJ53LT4:2:1381:47890:2709,LH00995:41:23WJ53LT4:2:1455:28635:23812,LH00995:41:23WJ53LT4:2:2132:40455:4965,LH00995:41:23WJ53LT4:2:2466:17261:19076,LH00995:41:23WJ53LT4:2:2469:41701:23041,LH00995:41:23WJ53LT4:3:1120:12997:17773,LH00995:41:23WJ53LT4:3:1143:37478:6451,LH00995:41:23WJ53LT4:3:1204:41871:22159,LH00995:41:23WJ53LT4:3:2116:47453:1953,LH00995:41:23WJ53LT4:3:2244:21791:19440,LH00995:41:23WJ53LT4:3:2244:23280:17843,LH00995:41:23WJ53LT4:3:2244:31580:21458,LH00995:41:23WJ53LT4:3:2244:31588:21444,LH00995:41:23WJ53LT4:3:2270:28482:28254,LH00995:41:23WJ53LT4:3:2310:34574:13163,LH00995:41:23WJ53LT4:3:2391:33020:3887,LH00995:41:23WJ53LT4:3:2391:33028:3901,LH00995:41:23WJ53LT4:3:2455:38457:24933,LH00995:41:23WJ53LT4:4:1267:28959:15180,LH00995:41:23WJ53LT4:4:1349:27746:11761,LH00995:41:23WJ53LT4:4:1433:22616:9099,LH00995:41:23WJ53LT4:4:2219:15158:16918,LH00995:41:23WJ53LT4:4:2403:30375:19258,LH00995:41:23WJ53LT4:4:2432:1882:3228,LH00995:41:23WJ53LT4:4:2444:37769:4965,LH00995:41:23WJ53LT4:5:1113:27195:5904,LH00995:41:23WJ53LT4:5:1175:29865:7446,LH00995:41:23WJ53LT4:5:1353:24186:19216,LH00995:41:23WJ53LT4:5:1472:29501:16624,LH00995:41:23WJ53LT4:5:2107:50260:4881,LH00995:41:23WJ53LT4:5:2112:12407:4895,LH00995:41:23WJ53LT4:5:2129:29372:8609,LH00995:41:23WJ53LT4:5:2156:17617:17619,LH00995:41:23WJ53LT4:5:2213:25844:3060,LH00995:41:23WJ53LT4:5:2488:12350:15110,LH00995:41:23WJ53LT4:5:2490:20473:25479,LH00995:41:23WJ53LT4:6:1114:20068:14045,LH00995:41:23WJ53LT4:6:1141:11121:26180

PRUNE2

-/-

chr9:76709219

chr9:76709230

CDS

duplication/ITD

medium

in-frame

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

ENSG00000106772.18

ENST00000376718.8

upstream

downstream

duplicates(33)

CCAtGGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGATGAAAA

mAEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNLDE

LH00995:41:23WJ53LT4:5:1488:31143:10584,LH00995:41:23WJ53LT4:1:2359:32090:7460,LH00995:41:23WJ53LT4:1:2306:47882:13821,LH00995:41:23WJ53LT4:1:2395:18151:27511,LH00995:41:23WJ53LT4:1:2411:23790:23882,LH00995:41:23WJ53LT4:2:2145:23053:29165,LH00995:41:23WJ53LT4:2:2317:31564:11537,LH00995:41:23WJ53LT4:3:1243:9778:9253,LH00995:41:23WJ53LT4:3:1250:39201:17927,LH00995:41:23WJ53LT4:3:1401:3678:2892,LH00995:41:23WJ53LT4:3:1429:48189:2724,LH00995:41:23WJ53LT4:4:1131:35156:25437,LH00995:41:23WJ53LT4:4:2224:32947:9309,LH00995:41:23WJ53LT4:4:2363:48335:5330,LH00995:41:23WJ53LT4:5:1155:26742:8959,LH00995:41:23WJ53LT4:5:1359:47283:19594,LH00995:41:23WJ53LT4:5:1488:31143:10584,LH00995:41:23WJ53LT4:5:2387:15077:19861,LH00995:41:23WJ53LT4:5:2387:15085:19875,LH00995:41:23WJ53LT4:5:2406:36094:24989,LH00995:41:23WJ53LT4:1:2306:47882:13821,LH00995:41:23WJ53LT4:1:2395:18151:27511,LH00995:41:23WJ53LT4:1:2411:23790:23882,LH00995:41:23WJ53LT4:2:2145:23053:29165,LH00995:41:23WJ53LT4:2:2317:31564:11537,LH00995:41:23WJ53LT4:3:1243:9778:9253,LH00995:41:23WJ53LT4:3:1250:39201:17927,LH00995:41:23WJ53LT4:3:1401:3678:2892,LH00995:41:23WJ53LT4:3:1429:48189:2724,LH00995:41:23WJ53LT4:4:1131:35156:25437,LH00995:41:23WJ53LT4:4:2224:32947:9309,LH00995:41:23WJ53LT4:4:2363:48335:5330,LH00995:41:23WJ53LT4:5:1155:26742:8959,LH00995:41:23WJ53LT4:5:1359:47283:19594,LH00995:41:23WJ53LT4:5:2387:15077:19861,LH00995:41:23WJ53LT4:5:2387:15085:19875,LH00995:41:23WJ53LT4:5:2406:36094:24989,LH00995:41:23WJ53LT4:3:2472:8580:24527,LH00995:41:23WJ53LT4:5:1490:8516:2387,LH00995:41:23WJ53LT4:5:2173:27584:6717,LH00995:41:23WJ53LT4:2:2145:23053:29165,LH00995:41:23WJ53LT4:2:2145:23053:29165,LH00995:41:23WJ53LT4:2:2145:23053:29165,LH00995:41:23WJ53LT4:3:1250:39201:17927,LH00995:41:23WJ53LT4:3:1250:39201:17927,LH00995:41:23WJ53LT4:3:1250:39201:17927,LH00995:41:23WJ53LT4:3:1401:3678:2892,LH00995:41:23WJ53LT4:3:1401:3678:2892,LH00995:41:23WJ53LT4:3:1401:3678:2892

PPP3CB

ANXA7

-/-

chr10:73444725

chr10:73380201

CDS/splice-site

deletion/read-through

3233

1718

medium

out-of-frame

Calcineurin-like_phosphoesterase(100%)|Annexin(50%)

ENSG00000107758.16

ENSG00000138279.16

ENST00000360663.10

ENST00000372921.10

upstream

downstream

duplicates(39),mismappers(1),mismatches(1)

ATAAGAAACAAAATTCGAGCAATTGGCAAGATGGCAAGAGTCTTCTCTGTTCTCAG___GGAGGAGAGTGAAAGTGTGCTGACACTCAAGGGCCTGACTCCCACAGGGATGTTGCCTAGTGGAGTGTTAGCTGGAGGACGGCAGACCCTGCAAAGTG|GGAAATCGTGATGAGAACCAGAGTATAAACCACCAAATGGCTCAGGAAGATGCTCAGCGTCTCTATCAAGCTGGTGAGGGGAGACTAGGGACCGATGAATCTTGCTTTAACATGA

IRNKIRAIGKMARVFSVLREESESVLTLKGLTPTGMLPSGVLAGGRQTLQS|gks*

LH00995:41:23WJ53LT4:3:1213:10732:27077,LH00995:41:23WJ53LT4:1:1242:50632:4321,LH00995:41:23WJ53LT4:1:1256:5935:20421,LH00995:41:23WJ53LT4:1:1256:5951:20421,LH00995:41:23WJ53LT4:1:1257:15513:9323,LH00995:41:23WJ53LT4:1:1261:6396:20323,LH00995:41:23WJ53LT4:1:1301:37923:17394,LH00995:41:23WJ53LT4:1:1301:37939:17394,LH00995:41:23WJ53LT4:1:1409:26718:28898,LH00995:41:23WJ53LT4:1:1462:12536:17450,LH00995:41:23WJ53LT4:1:1474:16395:14438,LH00995:41:23WJ53LT4:1:1496:31451:13415,LH00995:41:23WJ53LT4:1:2165:9446:29501,LH00995:41:23WJ53LT4:1:2336:46684:26993,LH00995:41:23WJ53LT4:1:2336:46692:26979,LH00995:41:23WJ53LT4:1:2465:38327:21290,LH00995:41:23WJ53LT4:2:1118:10134:22369,LH00995:41:23WJ53LT4:2:1129:16727:9407,LH00995:41:23WJ53LT4:2:1152:40989:8609,LH00995:41:23WJ53LT4:2:1157:30601:29123,LH00995:41:23WJ53LT4:2:1307:14276:19090,LH00995:41:23WJ53LT4:2:1411:51878:7488,LH00995:41:23WJ53LT4:2:2148:29833:3802,LH00995:41:23WJ53LT4:2:2188:20570:7123,LH00995:41:23WJ53LT4:2:2238:28975:24597,LH00995:41:23WJ53LT4:2:2303:23142:5554,LH00995:41:23WJ53LT4:2:2460:19712:6563,LH00995:41:23WJ53LT4:2:2482:25974:11803,LH00995:41:23WJ53LT4:3:1175:46369:10024,LH00995:41:23WJ53LT4:3:1222:48060:7263,LH00995:41:23WJ53LT4:3:1325:16670:16315,LH00995:41:23WJ53LT4:3:1422:24882:1645,LH00995:41:23WJ53LT4:3:1429:38821:2051,LH00995:41:23WJ53LT4:3:1470:29072:19720,LH00995:41:23WJ53LT4:4:1188:17196:29361,LH00995:41:23WJ53LT4:4:1188:17204:29375,LH00995:41:23WJ53LT4:4:1227:4309:25087,LH00995:41:23WJ53LT4:4:1268:24008:5036,LH00995:41:23WJ53LT4:4:1491:51271:23980,LH00995:41:23WJ53LT4:4:2140:1874:17675,LH00995:41:23WJ53LT4:4:2167:13920:9225,LH00995:41:23WJ53LT4:4:2201:51611:14620,LH00995:41:23WJ53LT4:4:2296:24016:21836,LH00995:41:23WJ53LT4:4:2304:40633:9533,LH00995:41:23WJ53LT4:4:2304:40641:9547,LH00995:41:23WJ53LT4:4:2352:26435:24429,LH00995:41:23WJ53LT4:4:2352:26443:24415,LH00995:41:23WJ53LT4:4:2355:1364:26572,LH00995:41:23WJ53LT4:4:2398:2602:9828,LH00995:41:23WJ53LT4:5:1157:29169:12518,LH00995:41:23WJ53LT4:5:2122:4098:17829,LH00995:41:23WJ53LT4:5:2347:30245:6479,LH00995:41:23WJ53LT4:5:2387:37162:11509,LH00995:41:23WJ53LT4:5:2391:11493:25648,LH00995:41:23WJ53LT4:5:2464:8168:23420,LH00995:41:23WJ53LT4:6:1198:8742:10682

PPP3CB

ANXA7

-/-

chr10:73446492

chr10:73380201

CDS/splice-site

deletion/read-through

1729

1718

low

out-of-frame

Calcineurin-like_phosphoesterase(100%)|Annexin(50%)

ENSG00000107758.16

ENSG00000138279.16

ENST00000360663.10

ENST00000372921.10

upstream

downstream

AAGAAACAAAATTCGAGCAATTGGCAAGATGGCAAGAGTCTTCTCTGTTCTCAG|GGAAATCGTGATGAGAACCAGAGTATAAACCACCAAATGGCTCAGGAAGATGCTCAGCGTCTCTATCAAGCTGGTGAGGGGAGACTAGG

RNKIRAIGKMARVFSVLr|eivmrtrv*

LH00995:41:23WJ53LT4:3:1207:34460:19244

HOXB1

-/+

chr17:48530840

chr17:48530832

CDS

duplication/ITD

medium

ENSG00000120094.9

downstream

upstream

duplicates(24)

AGGAGCATACCCCGAGGGCGCaGAGCTGGGGAAGGGCACCCCCAGGGTCGAAGGCGGCTGCTGGGCGGGATAGCCGGAGTTCTGCTGAAACGCAGGGCTGGACAGCCCCCCACCGTAGCGGCCCTCGCTTGCATAGCTGTCAACCGCCTGAGCCGAGCTTGGGGGAAAGGAGGTTGGGGCGCTGTGGGCGCTGT|GGGCGCTGTAGGCGCTGGGTCCCCGGTTACAGAGTGGGTACTCTAAGAAGGAGTTCATCCTATTATAGTCCATGCGTCAAGGCCGCAGGAGGGTCGGCCCGTTTGGGGGAGACACCCTC

LH00995:41:23WJ53LT4:1:1435:7043:15923,LH00995:41:23WJ53LT4:2:2428:23094:22397,LH00995:41:23WJ53LT4:2:2428:23094:22397,LH00995:41:23WJ53LT4:3:1190:23668:16021,LH00995:41:23WJ53LT4:3:1343:42486:13135,LH00995:41:23WJ53LT4:3:1343:42494:13121,LH00995:41:23WJ53LT4:4:1290:26095:21710,LH00995:41:23WJ53LT4:5:1147:41191:29025,LH00995:41:23WJ53LT4:5:1303:50122:3438,LH00995:41:23WJ53LT4:5:1422:19777:14606,LH00995:41:23WJ53LT4:6:1147:16945:2303,LH00995:41:23WJ53LT4:6:1147:16945:2303,LH00995:41:23WJ53LT4:6:1155:1113:28941,LH00995:41:23WJ53LT4:1:1174:43473:17198,LH00995:41:23WJ53LT4:1:1210:14340:9393,LH00995:41:23WJ53LT4:1:1301:25027:21122,LH00995:41:23WJ53LT4:1:1435:7043:15923,LH00995:41:23WJ53LT4:2:2253:26168:23434,LH00995:41:23WJ53LT4:2:2286:40067:10514,LH00995:41:23WJ53LT4:3:1190:23668:16021,LH00995:41:23WJ53LT4:3:1193:28603:21766,LH00995:41:23WJ53LT4:3:1201:47202:28170,LH00995:41:23WJ53LT4:3:1228:28482:24695,LH00995:41:23WJ53LT4:3:1343:42486:13135,LH00995:41:23WJ53LT4:3:1343:42494:13121,LH00995:41:23WJ53LT4:3:2196:14624:5540,LH00995:41:23WJ53LT4:3:2319:8046:7095,LH00995:41:23WJ53LT4:4:1152:7650:25129,LH00995:41:23WJ53LT4:4:1290:26095:21710,LH00995:41:23WJ53LT4:4:1398:45058:2513,LH00995:41:23WJ53LT4:4:2301:30585:29179,LH00995:41:23WJ53LT4:4:2328:19947:28296,LH00995:41:23WJ53LT4:4:2417:23733:10248,LH00995:41:23WJ53LT4:4:2457:33182:9323,LH00995:41:23WJ53LT4:5:1147:41191:29025,LH00995:41:23WJ53LT4:5:1303:50122:3438,LH00995:41:23WJ53LT4:5:1422:19777:14606,LH00995:41:23WJ53LT4:5:2366:29719:4867,LH00995:41:23WJ53LT4:6:1155:1113:28941

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

583

medium

in-frame

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000403751.8

downstream

upstream

duplicates(14)

ATGTCTGGGGAGTTTACAtGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA___GTCTAGATCATCCCCATTGTCTGTCATACAAATTAGAGCTTGGATCAGACCAAGAAATTCCCTCTGATTGGTATCCATTTGCTACTGTTCAGTTTTCCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTATAGAGGAACAAGTTTTAAAAGACTTGAAGCAG___CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAAC

CLGSLhELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNSSLDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSS

LH00995:41:23WJ53LT4:1:2187:16654:13037,LH00995:41:23WJ53LT4:2:1380:40698:17044,LH00995:41:23WJ53LT4:2:1380:40706:17058,LH00995:41:23WJ53LT4:2:1380:40714:17044,LH00995:41:23WJ53LT4:2:1380:40730:17072,LH00995:41:23WJ53LT4:3:1173:6744:12126,LH00995:41:23WJ53LT4:3:1173:6744:12154,LH00995:41:23WJ53LT4:3:1173:6752:12140,LH00995:41:23WJ53LT4:3:1388:6574:5134,LH00995:41:23WJ53LT4:3:1473:25173:26979,LH00995:41:23WJ53LT4:4:1460:36912:1154,LH00995:41:23WJ53LT4:4:2416:10854:21990,LH00995:41:23WJ53LT4:5:2145:30472:15307,LH00995:41:23WJ53LT4:1:1286:10392:24667,LH00995:41:23WJ53LT4:1:1336:6566:21794,LH00995:41:23WJ53LT4:2:1263:23013:16680,LH00995:41:23WJ53LT4:2:1426:41094:17254,LH00995:41:23WJ53LT4:3:1195:31920:13303,LH00995:41:23WJ53LT4:3:1339:35949:24737,LH00995:41:23WJ53LT4:3:1339:35957:24751,LH00995:41:23WJ53LT4:4:2204:2027:19230,LH00995:41:23WJ53LT4:5:2229:41288:11425,LH00995:41:23WJ53LT4:5:2317:16889:2457,LH00995:41:23WJ53LT4:5:2493:32624:28310,LH00995:41:23WJ53LT4:5:2493:32632:28296,LH00995:41:23WJ53LT4:5:2493:32648:28296,LH00995:41:23WJ53LT4:2:1304:46442:3704,LH00995:41:23WJ53LT4:2:1304:46450:3718

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

427

low

out-of-frame

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

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

duplicates(4)

TCTGAAAGCTAAAATGAACCGCCGAGCATGTCTGGGGAGTTTACAtGAACTTGAATCTGAACCTGTCATTCAAGTCACTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCG

LKAKMNRRACLGSLhELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:41:23WJ53LT4:1:2136:39500:23153,LH00995:41:23WJ53LT4:3:2471:44015:24050,LH00995:41:23WJ53LT4:6:1113:35334:16357,LH00995:41:23WJ53LT4:1:2247:30431:29221,LH00995:41:23WJ53LT4:2:1286:24874:10739,LH00995:41:23WJ53LT4:2:2118:30108:26054,LH00995:41:23WJ53LT4:2:2351:4568:23854,LH00995:41:23WJ53LT4:3:2435:11064:26026,LH00995:41:23WJ53LT4:4:2212:23563:28030

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

583

low

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(3)

GCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___GTCACCTTTATAAAGTCAATGTACCAATTATGGTGACAGAGACTTCTGGAAGAGCAGGTATTCTT---CATCCAATTCAGCAAGTATTTCAACAGCTT

ASRTEVRSLGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTGHLYKVNVPIMVTETSGRAGILHPIQQVFQQ

LH00995:41:23WJ53LT4:3:1484:32470:11677,LH00995:41:23WJ53LT4:5:1355:18426:5036,LH00995:41:23WJ53LT4:2:1172:5644:25073,LH00995:41:23WJ53LT4:2:1172:5652:25059,LH00995:41:23WJ53LT4:2:1172:5660:25073,LH00995:41:23WJ53LT4:3:1237:19356:28366,LH00995:41:23WJ53LT4:4:1247:40819:17394

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48645033

CDS/splice-site

deletion/read-through

583

low

in-frame

Adaptor_complexes_medium_subunit_family(99%)|Transcription_factor_IIA__alpha/beta_subunit(80%)

ENSG00000243244.7

ENSG00000242441.8

ENST00000649748.1

ENST00000430487.6

downstream

upstream

TGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|GGCACTTCAAACTCCA

CASRTEVRSLGVESDVQPQKHVQQRACYNIQ|GTSNS

LH00995:41:23WJ53LT4:5:1205:43197:15629

PCDHA10

PCDHAC1

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

106

667

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(23)

CGGCAGAGGGTGTGTTCTGGGGAGGGCCTGCCCAAGGCGGACCTCATGGCCTTCAGCCCCAGCCTTCCACCATGCCCAATGGTAGATGTGGACGGGGAAGATCAGTCTATTGGAGGGGACCACTCTAGGAAG|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAAC

RQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSA

LH00995:41:23WJ53LT4:1:1171:10028:14368,LH00995:41:23WJ53LT4:1:1171:10037:14382,LH00995:41:23WJ53LT4:2:1121:49815:10753,LH00995:41:23WJ53LT4:2:1121:49831:10753,LH00995:41:23WJ53LT4:2:1288:17220:1238,LH00995:41:23WJ53LT4:3:2259:8912:9547,LH00995:41:23WJ53LT4:3:2346:46725:6717,LH00995:41:23WJ53LT4:4:1421:45600:9253,LH00995:41:23WJ53LT4:4:2138:34485:2611,LH00995:41:23WJ53LT4:4:2145:3249:18768,LH00995:41:23WJ53LT4:4:2145:3257:18754,LH00995:41:23WJ53LT4:4:2245:44184:28100,LH00995:41:23WJ53LT4:5:1163:5102:22817,LH00995:41:23WJ53LT4:5:1316:22900:7207,LH00995:41:23WJ53LT4:6:1122:39905:3620,LH00995:41:23WJ53LT4:1:2148:21549:29137,LH00995:41:23WJ53LT4:1:2208:47518:22747,LH00995:41:23WJ53LT4:1:2231:13976:22523,LH00995:41:23WJ53LT4:2:1171:43254:3816,LH00995:41:23WJ53LT4:2:1189:17107:18754,LH00995:41:23WJ53LT4:2:1482:2335:6479,LH00995:41:23WJ53LT4:2:1495:28555:9856,LH00995:41:23WJ53LT4:2:2405:32818:5190,LH00995:41:23WJ53LT4:2:2470:11371:11397,LH00995:41:23WJ53LT4:2:2470:11379:11383,LH00995:41:23WJ53LT4:3:1205:47704:19034,LH00995:41:23WJ53LT4:3:1310:28085:7530,LH00995:41:23WJ53LT4:4:1206:16306:21514,LH00995:41:23WJ53LT4:5:1272:7359:4699,LH00995:41:23WJ53LT4:5:1328:8321:7011,LH00995:41:23WJ53LT4:5:1390:30723:17647,LH00995:41:23WJ53LT4:5:1390:30739:17647,LH00995:41:23WJ53LT4:5:2327:11735:20743,LH00995:41:23WJ53LT4:5:2458:42664:15012,LH00995:41:23WJ53LT4:6:1177:25278:23994

PCDHA10

PCDHAC2

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

106

667

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(23)

RQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSA

PCDHA10

PCDHA13

+/+

chr5:140858436

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

106

667

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(23)

RQRVCSGEGLPKADLMAFSPSLPPCPMVDVDGEDQSIGGDHSRK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSA

NPHP3

ACAD11

-/-

chr3:132681914

chr3:132644896

CDS

CDS/splice-site

deletion/read-through

377

1168

medium

in-frame

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

ENSG00000113971.20

ENSG00000240303.8

ENST00000337331.10

ENST00000264990.11

upstream

downstream

duplicates(12),mismappers(1)

ATCCTCGAGTTGGAGAAACACTGAAAAATTTAGCTGTGCTTAG___CTATGAAGGAGGAGATTTTGAAAAAGCTGCTGAATTATACAAAAGGGCAATGGAAATAAAAGAAGCAGAAACATCACTCTTGGGTGGAAAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCTCCTAATGTTTTCCTTCAGCAAGGACAAAG|AGCAGGAAAGTCCAATCCAACCTTTTATCTCCAGAAGGGCTTTCAAACATATGTGCTCAGGAAAAAACCACCAGGTTCACTTCTTCCTAAAGCACATCAG___ATTGATAGAGAATTTAAAGTCCAGAAAGCCTTGTTTTCAATTGGATTCCCCGTTCCCAAGCCTATACTGTACTGCAG

PRVGETLKNLAVLSYEGGDFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQr|AGKSNPTFYLQKGFQTYVLRKKPPGSLLPKAHQIDREFKVQKALFSIGFPVPKPILYC

LH00995:41:23WJ53LT4:2:1352:12787:28338,LH00995:41:23WJ53LT4:2:2117:12876:12238,LH00995:41:23WJ53LT4:2:2136:39743:18894,LH00995:41:23WJ53LT4:3:1215:5288:23644,LH00995:41:23WJ53LT4:4:1122:23248:23420,LH00995:41:23WJ53LT4:1:1231:37178:27035,LH00995:41:23WJ53LT4:1:1379:37987:10500,LH00995:41:23WJ53LT4:1:2321:28320:28002,LH00995:41:23WJ53LT4:1:2322:4495:12434,LH00995:41:23WJ53LT4:2:1112:26702:24583,LH00995:41:23WJ53LT4:2:1176:44184:20225,LH00995:41:23WJ53LT4:2:2137:16767:8693,LH00995:41:23WJ53LT4:2:2137:16784:8693,LH00995:41:23WJ53LT4:2:2159:22180:17871,LH00995:41:23WJ53LT4:2:2276:42939:3354,LH00995:41:23WJ53LT4:4:1243:31095:22103,LH00995:41:23WJ53LT4:4:1286:6825:14284,LH00995:41:23WJ53LT4:4:1315:7318:29543,LH00995:41:23WJ53LT4:4:1370:41086:14438,LH00995:41:23WJ53LT4:4:2137:2319:7011,LH00995:41:23WJ53LT4:4:2220:45034:11075,LH00995:41:23WJ53LT4:5:1237:38991:18543,LH00995:41:23WJ53LT4:1:1256:14907:1687,LH00995:41:23WJ53LT4:1:2414:7949:28814

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

CTCACCGCGGACTCGAGGAAGAGTCACCTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGG

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

LH00995:41:23WJ53LT4:1:1153:20958:1631,LH00995:41:23WJ53LT4:1:1153:20966:1617,LH00995:41:23WJ53LT4:1:1239:19203:6353,LH00995:41:23WJ53LT4:1:1240:9365:8118,LH00995:41:23WJ53LT4:1:1377:50406:17072,LH00995:41:23WJ53LT4:1:1411:10457:3788,LH00995:41:23WJ53LT4:1:2367:12561:26600,LH00995:41:23WJ53LT4:2:2218:27826:17142,LH00995:41:23WJ53LT4:3:2211:47129:23308,LH00995:41:23WJ53LT4:4:1255:47760:14732,LH00995:41:23WJ53LT4:4:1258:26233:26292,LH00995:41:23WJ53LT4:4:1452:30375:23798,LH00995:41:23WJ53LT4:5:1324:46425:29179,LH00995:41:23WJ53LT4:5:1324:46433:29165,LH00995:41:23WJ53LT4:5:1445:21629:29417,LH00995:41:23WJ53LT4:5:1448:9988:4994,LH00995:41:23WJ53LT4:5:1474:35722:13611,LH00995:41:23WJ53LT4:5:2272:24995:14059,LH00995:41:23WJ53LT4:6:1179:27818:6731,LH00995:41:23WJ53LT4:6:1179:31402:12294,LH00995:41:23WJ53LT4:2:1226:3791:24162,LH00995:41:23WJ53LT4:5:2254:1866:20547

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

TCGGGCTTTCCTGCAGACCTATTCCCACGAGGTCTCACTCACTGCAGACTCGCGTAAGAGTCATCTGATTTTCCCCCAGCCCAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGC

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

LH00995:41:23WJ53LT4:1:2168:32405:17843,LH00995:41:23WJ53LT4:1:2254:32470:2653,LH00995:41:23WJ53LT4:1:2261:19987:26516,LH00995:41:23WJ53LT4:1:2464:20643:19804,LH00995:41:23WJ53LT4:1:2474:20012:29529,LH00995:41:23WJ53LT4:2:1480:30779:22901,LH00995:41:23WJ53LT4:2:2188:30771:4363,LH00995:41:23WJ53LT4:3:1360:44500:13401,LH00995:41:23WJ53LT4:3:1416:25723:15769,LH00995:41:23WJ53LT4:3:2189:10967:12434,LH00995:41:23WJ53LT4:3:2428:25877:5470,LH00995:41:23WJ53LT4:4:1195:33295:12714,LH00995:41:23WJ53LT4:4:1195:33311:12714,LH00995:41:23WJ53LT4:4:1195:33328:12714,LH00995:41:23WJ53LT4:4:1195:33336:12728,LH00995:41:23WJ53LT4:4:1331:17018:27735,LH00995:41:23WJ53LT4:5:1218:16662:18936,LH00995:41:23WJ53LT4:5:1359:47623:28842,LH00995:41:23WJ53LT4:5:1489:35067:1294,LH00995:41:23WJ53LT4:5:1489:35083:1294,LH00995:41:23WJ53LT4:5:1489:35091:1308,LH00995:41:23WJ53LT4:5:2372:28021:11537,LH00995:41:23WJ53LT4:5:2402:26572:15839,LH00995:41:23WJ53LT4:6:1241:2335:9646,LH00995:41:23WJ53LT4:1:1488:50956:17717,LH00995:41:23WJ53LT4:1:2143:32543:1575,LH00995:41:23WJ53LT4:1:2143:32551:1560,LH00995:41:23WJ53LT4:1:2162:21743:28772,LH00995:41:23WJ53LT4:2:1112:12682:24989,LH00995:41:23WJ53LT4:2:1323:25642:13051,LH00995:41:23WJ53LT4:2:1389:14146:20295,LH00995:41:23WJ53LT4:2:1462:47186:1883,LH00995:41:23WJ53LT4:2:1462:47194:1869,LH00995:41:23WJ53LT4:3:2214:26678:10416,LH00995:41:23WJ53LT4:3:2404:40673:5456,LH00995:41:23WJ53LT4:3:2404:40681:5442,LH00995:41:23WJ53LT4:4:1250:45349:16890,LH00995:41:23WJ53LT4:4:1250:45366:16890,LH00995:41:23WJ53LT4:4:2120:29857:4965,LH00995:41:23WJ53LT4:4:2371:29194:18389,LH00995:41:23WJ53LT4:5:2249:21864:21332,LH00995:41:23WJ53LT4:5:2272:44605:20169

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

189

7088

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(11)

LTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

261

7088

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(29),low_entropy(2)

RAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMIL

MYLK

-/-

chr3:123698384

chr3:123700176

intron

CDS

duplication

4491

medium

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

ENSG00000065534.19

ENST00000360304.8

upstream

downstream

duplicates(10)

GCTGGGGTGAGACTTCAGAGGAGCAGACGCCACAACCTGTCCTGCCGCCCCTGTGGGGCTCTCCCACTTGGAAAGTCCTTGGTAAAACTGATTGGAAACCCTGACTGGGAACATTTCCCAGGTCACCCTACGGTGATCTCTCCAGGCAGGATGCAGGGTGGCATCCACCATCC|CCAGCCTTCAAGCAGAAGCTGCAAGATGTTCATGTGGCAGAGGGCAAGAAGCTGCTGCTCCAGTGCCAGGTGTCTTCTGACCCCCCAGCCACCATCATCTGGACGCTGAAtGGAAAGACCCTCAAGACCACCAAGTTCATCA

LH00995:41:23WJ53LT4:1:1367:36030:6016,LH00995:41:23WJ53LT4:1:1367:36038:6030,LH00995:41:23WJ53LT4:1:2281:47639:4125,LH00995:41:23WJ53LT4:2:1458:48068:11874,LH00995:41:23WJ53LT4:3:1380:30642:23392,LH00995:41:23WJ53LT4:4:2103:46409:25311,LH00995:41:23WJ53LT4:6:1225:36693:22635,LH00995:41:23WJ53LT4:1:2104:33344:28436,LH00995:41:23WJ53LT4:2:1339:12415:3060,LH00995:41:23WJ53LT4:2:1340:39848:13947,LH00995:41:23WJ53LT4:2:1340:39856:13961,LH00995:41:23WJ53LT4:2:2363:38182:3242,LH00995:41:23WJ53LT4:2:2463:5992:8609,LH00995:41:23WJ53LT4:3:1111:7326:9295,LH00995:41:23WJ53LT4:3:1294:9333:5036,LH00995:41:23WJ53LT4:3:1331:22730:13079,LH00995:41:23WJ53LT4:3:1331:2853:10879,LH00995:41:23WJ53LT4:4:2187:32341:24961,LH00995:41:23WJ53LT4:4:2213:23248:9660,LH00995:41:23WJ53LT4:5:2208:18167:8679,LH00995:41:23WJ53LT4:5:2339:12221:25536

KRTAP5-7

+/+

chr11:71527695

chr11:71527666

CDS

duplication/ITD

180

medium

in-frame

ENSG00000244411.4

ENST00000398536.6

downstream

upstream

duplicates(39)

TGGGGGTTCTAAGGGGGGCTGTGGTTCTTGTGGCTGCTCCCAGTGCAGCTGCTATAAGCCCTGCTGCTGCTCCTCAGGCTGTGGGTCATCCTGCTGCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAGTCCAGCTGCTGTAAGCCCTGCTGCTG|CCAGTCCAGCTGCTGTAAGCCCTGCTGCTGTTCCTCAGGCTGTGGGTCATCCTGCTGCCAGTCCAGTTGCTGCAATCCCTGCTGCTCC

GGSKGGCGSCGCSQCSCYKPCCCSSGCGSSCCQSSCCKPCCCQSSCCKPCCc|QSSCCKPCCCSSGCGSSCCQSSCCNPCC

LH00995:41:23WJ53LT4:1:2431:51182:22929,LH00995:41:23WJ53LT4:1:2431:51182:22929,LH00995:41:23WJ53LT4:1:2321:39654:16890,LH00995:41:23WJ53LT4:1:2321:39670:16890,LH00995:41:23WJ53LT4:1:2422:28207:12336,LH00995:41:23WJ53LT4:2:1152:26961:23602,LH00995:41:23WJ53LT4:2:1247:5288:23083,LH00995:41:23WJ53LT4:2:1280:17188:21612,LH00995:41:23WJ53LT4:2:1306:44589:17058,LH00995:41:23WJ53LT4:2:1323:12002:24541,LH00995:41:23WJ53LT4:2:1326:24720:21094,LH00995:41:23WJ53LT4:2:1451:31782:6899,LH00995:41:23WJ53LT4:2:2206:38368:16876,LH00995:41:23WJ53LT4:2:2206:38376:16890,LH00995:41:23WJ53LT4:2:2464:30909:5750,LH00995:41:23WJ53LT4:2:2483:14332:4755,LH00995:41:23WJ53LT4:3:1162:37025:8272,LH00995:41:23WJ53LT4:3:1162:37041:8272,LH00995:41:23WJ53LT4:3:1330:32405:29613,LH00995:41:23WJ53LT4:3:1473:47865:24807,LH00995:41:23WJ53LT4:3:2191:42752:23910,LH00995:41:23WJ53LT4:3:2265:9721:26979,LH00995:41:23WJ53LT4:3:2421:49111:5694,LH00995:41:23WJ53LT4:3:2421:49119:5708,LH00995:41:23WJ53LT4:4:1145:49767:14172,LH00995:41:23WJ53LT4:4:1156:31952:5736,LH00995:41:23WJ53LT4:4:1166:20853:29305,LH00995:41:23WJ53LT4:4:1201:12375:24288,LH00995:41:23WJ53LT4:4:1226:10166:21696,LH00995:41:23WJ53LT4:4:1253:5757:3662,LH00995:41:23WJ53LT4:4:1265:9964:2261,LH00995:41:23WJ53LT4:4:2214:40617:9225,LH00995:41:23WJ53LT4:4:2280:30092:1476,LH00995:41:23WJ53LT4:4:2335:18636:21262,LH00995:41:23WJ53LT4:5:1194:41410:10290,LH00995:41:23WJ53LT4:5:1237:6048:25858,LH00995:41:23WJ53LT4:5:1263:46029:6353,LH00995:41:23WJ53LT4:5:1287:30310:2724,LH00995:41:23WJ53LT4:5:1287:30326:2724,LH00995:41:23WJ53LT4:5:1370:36200:6871,LH00995:41:23WJ53LT4:5:1377:51878:7095,LH00995:41:23WJ53LT4:5:1482:32575:23462,LH00995:41:23WJ53LT4:5:1482:32591:23462,LH00995:41:23WJ53LT4:5:2237:24307:8328,LH00995:41:23WJ53LT4:5:2423:37178:13835,LH00995:41:23WJ53LT4:6:1141:46611:19048,LH00995:41:23WJ53LT4:6:1161:23288:27273,LH00995:41:23WJ53LT4:6:1161:23304:27273,LH00995:41:23WJ53LT4:6:1172:9810:4013,LH00995:41:23WJ53LT4:6:1172:9818:3999

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

274

378

medium

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

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

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAAcGGAAAATGAGGGAGTTCAAC?CTG___GCCCTCACAATCCAG

LH00995:41:23WJ53LT4:4:2275:5441:8889,LH00995:41:23WJ53LT4:6:1147:35059:3774,LH00995:41:23WJ53LT4:1:1333:5409:19762,LH00995:41:23WJ53LT4:1:1333:5417:19776,LH00995:41:23WJ53LT4:2:2115:30205:3382,LH00995:41:23WJ53LT4:2:2175:31038:14270,LH00995:41:23WJ53LT4:2:2355:11436:21738,LH00995:41:23WJ53LT4:2:2433:24421:8244,LH00995:41:23WJ53LT4:3:1311:43117:21374,LH00995:41:23WJ53LT4:3:1464:13823:23097,LH00995:41:23WJ53LT4:3:1488:43108:4601,LH00995:41:23WJ53LT4:4:2281:48108:22453,LH00995:41:23WJ53LT4:5:1244:35221:27763,LH00995:41:23WJ53LT4:5:1446:4422:23770,LH00995:41:23WJ53LT4:5:1447:7084:1112,LH00995:41:23WJ53LT4:5:1484:39945:14620,LH00995:41:23WJ53LT4:5:1484:39953:14634,LH00995:41:23WJ53LT4:5:2118:2400:8076,LH00995:41:23WJ53LT4:6:1151:41191:5484,LH00995:41:23WJ53LT4:6:1195:16962:2331,LH00995:41:23WJ53LT4:6:1207:32850:28058

RNASE10

STON2

+/+

-/-

chr14:20506019

chr14:81278739

CDS/splice-site

inversion

5498

medium

in-frame

|Adaptor_complexes_medium_subunit_family(100%),Stonin_2(38%)

ENSG00000182545.6

ENSG00000140022.13

ENST00000430083.1

ENST00000649389.1

downstream

duplicates(6),multimappers(3)

GGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCtGCCCATCGTCTGAGATGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAACCCTGTCTGGGAG|ACAATTCCTCCTCGCTTCAAGAAGATGAAGAAGTAGAGATGGAGGCCATCAGCTGGCAGGCCAGCAGTCCAGCCATGAATGGGCACCCTGCCCCTCCAGTGACCTCTGCTCGTTTTCCCAGCTGGGTCACCTTTGATGACAATGAAGTCAGCTGCCCTTTACCACCAGTCACCTCTCCTCTGAAGCCA

MWGAPLPRRPVWDVRSASAGPQPCLG|dNSSSLQEDEEVEMEAISWQASSPAMNGHPAPPVTSARFPSWVTFDDNEVSCPLPPVTSPLK

LH00995:41:23WJ53LT4:1:2189:20100:1546,LH00995:41:23WJ53LT4:2:1360:51522:22677,LH00995:41:23WJ53LT4:2:1446:35900:21010,LH00995:41:23WJ53LT4:4:2114:11727:16245,LH00995:41:23WJ53LT4:4:2174:27260:28072,LH00995:41:23WJ53LT4:1:1474:5773:3859,LH00995:41:23WJ53LT4:3:1239:22616:11509,LH00995:41:23WJ53LT4:3:1239:22625:11523,LH00995:41:23WJ53LT4:4:1496:33109:5554,LH00995:41:23WJ53LT4:4:1496:33117:5568,LH00995:41:23WJ53LT4:4:2236:25132:26713,LH00995:41:23WJ53LT4:4:2270:25820:20057,LH00995:41:23WJ53LT4:5:2412:21403:24877,LH00995:41:23WJ53LT4:5:2460:32494:17324,LH00995:41:23WJ53LT4:1:2495:24437:20855,LH00995:41:23WJ53LT4:3:1468:45252:24625,LH00995:41:23WJ53LT4:3:2243:9948:20813,LH00995:41:23WJ53LT4:5:2121:2853:27105

GATAD2B

ADAM9

-/-

+/-

chr1:153828210

chr8:39035229

CDS

intron

translocation/5'-5'

2325

medium

out-of-frame

ENSG00000143614.10

ENSG00000168615.13

ENST00000368655.5

upstream

downstream

duplicates(10)

TCTTTCCATAGGATGGATAGAATGACAGAAGATGCTCTTCGCTTGAATCTGTTGAAGCGGAGCTTGGACCCAGCAGATGAGCGAGATGATGTCCTGGCAAAGCGACTCAAAATGGAGGGGCATGAGGCCATGGAACGTCTGAAAATGTTG|ATAAGTTTAACAACAGACAAAATACATATGAAGACAGAATCAGTGAGCTGAAAGATATCAGAAGAAATTACACAGAAGAAAAAAACACAAAAAGATAGGAAACATATTTAAAAAACTAAGAGACAAAGGAGACATAGTGAGGTCTAAC

MDRMTEDALRLNLLKRSLDPADERDDVLAKRLKMEGHEAMERLKML|islttdkihmktesvs*

LH00995:41:23WJ53LT4:2:1302:46749:26264,LH00995:41:23WJ53LT4:3:1474:21896:25760,LH00995:41:23WJ53LT4:3:2407:27301:13597,LH00995:41:23WJ53LT4:3:2407:27317:13597,LH00995:41:23WJ53LT4:4:2237:37923:10977,LH00995:41:23WJ53LT4:4:2239:41118:13737,LH00995:41:23WJ53LT4:5:1186:13661:28478,LH00995:41:23WJ53LT4:5:1186:13669:28492,LH00995:41:23WJ53LT4:5:1460:1874:12995,LH00995:41:23WJ53LT4:1:1164:51142:9632,LH00995:41:23WJ53LT4:1:1164:51158:9632,LH00995:41:23WJ53LT4:2:1265:11428:19706,LH00995:41:23WJ53LT4:3:2209:17091:14214,LH00995:41:23WJ53LT4:4:2435:27802:21472,LH00995:41:23WJ53LT4:5:1197:31499:20449,LH00995:41:23WJ53LT4:1:2139:38198:8987,LH00995:41:23WJ53LT4:1:2139:38214:8987

SMARCA2

FUS

+/+

chr9:2103695

chr16:31190275

intron

CDS/splice-site

translocation

9464

medium

BRK_domain(100%),HSA_domain(100%),QLQ(100%),SNF2-related_domain(100%)|Zn-finger_in_Ran_binding_protein_and_others(100%)

ENSG00000080503.24

ENSG00000089280.19

ENST00000254108.12

downstream

upstream

duplicates(7)

GAGAGAGAGAGAGAGAGGGCGAGGAG|GACCCATGGGCCGTGGAGGCTATGGAGGTGGTGGCAGTGGTGGTGGTGGCCGAGGAGGATTTCCCAGTGGAGGTGGTGGCGGTGGAGGACAGCAGCGAGCTGGTGACTGGAAGTGTCCTAA

LH00995:41:23WJ53LT4:1:1313:30431:28744,LH00995:41:23WJ53LT4:1:2368:33093:19258,LH00995:41:23WJ53LT4:1:2438:9228:23742,LH00995:41:23WJ53LT4:2:1429:21152:25928,LH00995:41:23WJ53LT4:2:2465:40827:11103,LH00995:41:23WJ53LT4:3:1430:24283:13583,LH00995:41:23WJ53LT4:3:2107:31588:16091,LH00995:41:23WJ53LT4:3:2287:21621:3508,LH00995:41:23WJ53LT4:4:1205:29873:1687,LH00995:41:23WJ53LT4:4:2178:7043:27581,LH00995:41:23WJ53LT4:5:1240:44290:24387,LH00995:41:23WJ53LT4:5:1350:50114:9758,LH00995:41:23WJ53LT4:5:2118:20319:7754,LH00995:41:23WJ53LT4:5:2484:42639:23097

PMS2P8

CCDC146

+/+

chr7:73041421

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

1931

896

medium

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

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

ATGGGAAAATCATCCAGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGC

LH00995:41:23WJ53LT4:1:1374:8774:28086,LH00995:41:23WJ53LT4:1:2336:3937:19819,LH00995:41:23WJ53LT4:1:2336:3945:19833,LH00995:41:23WJ53LT4:3:1326:18426:9940,LH00995:41:23WJ53LT4:3:1326:18442:9940,LH00995:41:23WJ53LT4:4:2163:40220:7558,LH00995:41:23WJ53LT4:6:1122:16363:21780,LH00995:41:23WJ53LT4:1:1238:9033:24078,LH00995:41:23WJ53LT4:1:2240:20667:19678,LH00995:41:23WJ53LT4:1:2432:24906:10935,LH00995:41:23WJ53LT4:2:1194:16055:20968,LH00995:41:23WJ53LT4:4:1179:5401:7530,LH00995:41:23WJ53LT4:4:2484:33805:22621,LH00995:41:23WJ53LT4:5:1213:13062:29683,LH00995:41:23WJ53LT4:5:2279:41571:23041

PMS2P8

CCDC146

+/+

chr7:73044560

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

672

896

low

ENSG00000273897.1

ENSG00000135205.15

ENST00000380410.6

ENST00000285871.5

downstream

upstream

duplicates(7),mismatches(4),multimappers(3)

GTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG___AAACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGcTTCTTGAGGGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATGCCAAAC

LH00995:41:23WJ53LT4:2:2339:50422:26488,LH00995:41:23WJ53LT4:2:2339:50422:26488,LH00995:41:23WJ53LT4:2:2380:17164:26614,LH00995:41:23WJ53LT4:2:2380:17164:26614,LH00995:41:23WJ53LT4:2:2380:17172:26600,LH00995:41:23WJ53LT4:2:2380:17172:26600,LH00995:41:23WJ53LT4:5:2292:48043:24218,LH00995:41:23WJ53LT4:5:2292:48043:24218,LH00995:41:23WJ53LT4:5:2451:41151:16680,LH00995:41:23WJ53LT4:1:1207:19825:23994,LH00995:41:23WJ53LT4:2:1179:5280:14858,LH00995:41:23WJ53LT4:3:1431:45932:24821,LH00995:41:23WJ53LT4:3:2371:20537:1154,LH00995:41:23WJ53LT4:4:2169:32365:22088

ARHGAP12(41204),RPL34P19(13805)

IFITM1

./+

+/+

chr10:31970080

chr11:314192

intergenic

CDS/splice-site

translocation

23239

medium

|Interferon-induced_transmembrane_protein(100%)

ENSG00000185885.17

ENST00000680588.1

downstream

upstream

GGGGGGGGGGGGGGGGGGGGGGGGGGGGG|GTGGgTGTGCTGGGGgCACCCCCCAGCACCATCCTTCCAAGGTCCACCGTGATCAACATCCACAGCGAGACCTCCGTGCCCGACCATGTCGTCTGGTCCCTGTTCAACACCCTCTTCTTGAACTGGTGCTGTCTGGGCTTCATAGCATTCGCCTACTCCGTGAAG___TCTAGGGACAGGAAGATGGTTGGCGACGTGACCGGGGCCCAGGCCTATGCCTCCACCGCCAAGTGCCTGAACATCTGGGCCCTGATTCTGGGCATCCTCATGACCATTGGATTCATCCTGTTACTGGTATTCGGCTCTGTGACAGTCTACCATATTATGTTAC

LH00995:41:23WJ53LT4:2:1363:9826:2051,LH00995:41:23WJ53LT4:2:1438:32656:29683,LH00995:41:23WJ53LT4:4:1447:33158:9618,LH00995:41:23WJ53LT4:5:1457:38279:13107,LH00995:41:23WJ53LT4:5:2181:32179:18571,LH00995:41:23WJ53LT4:5:2251:1372:20869

NOTCH2

SYPL2

-/-

+/-

chr1:119963574

chr1:109467673

CDS/splice-site

intron

deletion/5'-5'

10185

medium

out-of-frame

Calcium-binding_EGF_domain(76%),EGF-like_domain(37%),Human_growth_factor-like_EGF(75%)|

ENSG00000134250.20

ENSG00000143028.9

ENST00000256646.7

upstream

downstream

duplicates(6)

GGTCAGTGTCAGGATGGTATTGATTCCTACACCTGCATCTGCAATCCCGGGTACATGGGCGCCATCTGCAGTGACCAGATTGATGAATGTTACAGCAGCCCTTGCCTGAACGATGGTCGCTGCATTGACCTGGTCAATGGCTACCAGTGCAACTGCCAGCCAGGCACGTCAG|GAACTCaGATTACTCCAGTGACCTCAAAAGGGAACGGCGAGCCGAGAGCCTGTCCCCTGAGCCCAGTACTTGCAGGATCATCCAGGCCCTGGTGGGTTTGGGGGCAGGACGGTTTCC...___ATCATGCTTTTGGCATCCTGTCTAAAAAACTCTTTGCCTTTGGGAGGCCGAGGTGGGCG

GQCQDGIDSYTCICNPGYMGAICSDQIDECYSSPCLNDGRCIDLVNGYQCNCQPGTS|gtqitpvtskgngepracplspvlagssrpwwvwgqdgf

LH00995:41:23WJ53LT4:1:2459:11663:6297,LH00995:41:23WJ53LT4:1:2459:11671:6311,LH00995:41:23WJ53LT4:4:1393:35366:11313,LH00995:41:23WJ53LT4:2:2438:20222:19748,LH00995:41:23WJ53LT4:2:2445:15368:7418,LH00995:41:23WJ53LT4:2:2445:15384:7418,LH00995:41:23WJ53LT4:3:1260:40253:17086,LH00995:41:23WJ53LT4:3:2462:15934:18459,LH00995:41:23WJ53LT4:4:1260:13863:20029,LH00995:41:23WJ53LT4:5:1284:40188:9968,LH00995:41:23WJ53LT4:5:2297:20950:24036

AC012101.2

KHDC4

+/+

-/-

chr18:75459150

chr1:155915964

intron

CDS/splice-site

translocation

2449

medium

ENSG00000287281.1

ENSG00000132680.11

ENST00000368321.8

downstream

duplicates(5)

GCGGGGGAGAGAGAGAGAGAGAGGGAcAG|GCAGTTGATGCCTCCACCAGCCTTTCCAGTGACTGGAATAAAAACAGAGTCCGATGAAAGGAATGGGTCTGGGACCTTAACAGGGAGC

LH00995:41:23WJ53LT4:1:1414:30367:12182,LH00995:41:23WJ53LT4:1:2196:29881:26895,LH00995:41:23WJ53LT4:1:2368:12658:10122,LH00995:41:23WJ53LT4:2:2326:27737:22929,LH00995:41:23WJ53LT4:3:1236:30755:19636,LH00995:41:23WJ53LT4:3:2178:32737:7488,LH00995:41:23WJ53LT4:4:2140:46975:25227,LH00995:41:23WJ53LT4:5:1129:23369:3284,LH00995:41:23WJ53LT4:6:1129:6137:4741,LH00995:41:23WJ53LT4:6:1236:40940:26993

MEX3A

HNRNPD

-/+

-/-

chr1:156082052

chr4:82355401

5'UTR

CDS/splice-site

translocation/3'-3'

157

7275

medium

ENSG00000254726.3

ENSG00000138668.19

ENST00000313899.12

downstream

duplicates(4),mismatches(2)

GGGAGAGAGAGAGAGAGAGGTGGTG|ACCAGCAGAGTGGTTATGGGAAGGTATCCAGGCGAGGTGGTCATCAAAATAGCTACAAACCATACTAAATTATTCCATTTGCAACTTATCCCCAACAG___GTGGTGAAGCAGTATTTTCCAATTTGAAGATTCATTTGAAGGTGGCTCCTGCCACCTGCTAATAGCAGTTCAAACTAAATTTTTTGTATCAAGTCCCT

LH00995:41:23WJ53LT4:1:1471:31766:28702,LH00995:41:23WJ53LT4:1:2187:35714:8861,LH00995:41:23WJ53LT4:1:2312:34485:19314,LH00995:41:23WJ53LT4:2:2210:39783:17198,LH00995:41:23WJ53LT4:2:2424:30084:13121,LH00995:41:23WJ53LT4:3:2171:49847:28436,LH00995:41:23WJ53LT4:3:2461:41790:11537,LH00995:41:23WJ53LT4:3:2461:41798:11551,LH00995:41:23WJ53LT4:4:2450:1049:2822,LH00995:41:23WJ53LT4:5:2113:48593:2836,LH00995:41:23WJ53LT4:6:1138:12997:19622

AL512598.1(24914),ENKUR(3552)

ATP5F1A

./-

-/-

chr10:24978427

chr18:46089899

intergenic

CDS/splice-site

translocation

5443

medium

|ATP_synthase_alpha/beta_chain__C_terminal_domain(100%),ATP_synthase_alpha/beta_family__nucleotide-binding_domain(100%)

ENSG00000152234.16

ENST00000589252.5

upstream

downstream

GGAGAGAGAGAGAGAGAGGACAGGAG|CCATTGTGGACGTTCCAGTTGGTGAGGAGCTGTTGGGTCGTGTAGTTGATGCCCTTGGTAATGCTATTGATGGAAAG___GGTCCAATTGGTTCCAAGACGCGTAGGCGAGTTGGTCTGAAAGCCCCCGG

LH00995:41:23WJ53LT4:1:1306:51716:14606,LH00995:41:23WJ53LT4:1:2484:19809:3452,LH00995:41:23WJ53LT4:3:2350:41774:28436,LH00995:41:23WJ53LT4:5:1381:1396:2892

AL132719.1(94840),C14orf177(101975)

ATP5F1A

./-

-/-

chr14:98609638

chr18:46089900

intergenic

CDS/splice-site

translocation

5443

medium

|ATP_synthase_alpha/beta_chain__C_terminal_domain(100%),ATP_synthase_alpha/beta_family__nucleotide-binding_domain(100%)

ENSG00000152234.16

ENST00000282050.6

upstream

downstream

duplicates(1)

GGGAGAGAGAGAGAGAGAGGACAGGA|GCCATTGTGGACGTTCCAGTTGGTGAGGAGCTGTTGGGTCGTGTAGTTGATGCCCTTGGTAATGCTATTGATGGAAAG___GGTCCAATTGGTTCCAAGACGCGTAGGCGAGTTGGTCTGAAAGCCCC...GCTATTGGTCAAAAGAGATCCACTGTTGCCCAGTTGGTGAAGAGACTTACAGATGCAG___ATGCCATGAAGTACACCATTGTGGTGTCGGCTACGGCCTCGGATGCTGCCCCACTTCAGTACCTGGCTCCTTACTCTGGCTGTTCCATGGGAG

LH00995:41:23WJ53LT4:2:1235:22803:18389,LH00995:41:23WJ53LT4:2:2273:15060:10332,LH00995:41:23WJ53LT4:4:1231:46498:26446,LH00995:41:23WJ53LT4:4:1450:22269:7964,LH00995:41:23WJ53LT4:5:2249:4406:23434

ERC1

SLC39A1

+/+

-/-

chr12:1473614

chr1:153962747

intron

5'UTR/splice-site

translocation

3912

medium

FIP_domain_(10%),RIM-binding_protein_of_the_cytomatrix_active_zone(100%)|ZIP_Zinc_transporter(100%)

ENSG00000082805.20

ENSG00000143570.19

ENST00000617697.4

downstream

duplicates(10),mismappers(1),mismatches(1)

GCCCAGGAGTTCCAGGCTGCAGTGAGCTGTGATCTCGCCACCGCACTCCAGCCTGGGGGACAGA|GTCTGAGAGTCACTGGAGCTACCAGAAGCATCATGGGGCCCTGGGGAGAGCCAGAGCTCCTGGTGTGGCGCCCCGAGGCGGTAGCTTCAGAGCCTCCAGTGCCTGTGGGGCTGGAGGTGAAGTTGGGGGCCCTGGTGCTGCTGCTGGTGCTCACCCTCCTCTGCAGCCTGGTGCCCATCTGTGTGCTGCGCCGGCCAGGAGCTAACCATGAAGGCTCAG___CTTCCCGCCAGAAAGCCCTG

LH00995:41:23WJ53LT4:1:2395:28425:1813,LH00995:41:23WJ53LT4:2:1346:48990:26699,LH00995:41:23WJ53LT4:2:2231:36175:4783,LH00995:41:23WJ53LT4:3:1128:10409:22509,LH00995:41:23WJ53LT4:3:1386:46304:14172,LH00995:41:23WJ53LT4:3:2141:20351:12518,LH00995:41:23WJ53LT4:4:1283:41903:1869,LH00995:41:23WJ53LT4:4:1283:41911:1883,LH00995:41:23WJ53LT4:4:1302:9883:12995,LH00995:41:23WJ53LT4:4:1404:14624:28772,LH00995:41:23WJ53LT4:4:1487:15902:8651,LH00995:41:23WJ53LT4:4:2156:29226:7207,LH00995:41:23WJ53LT4:5:1357:30334:4951,LH00995:41:23WJ53LT4:5:2182:12277:11593,LH00995:41:23WJ53LT4:5:2189:33506:17450,LH00995:41:23WJ53LT4:5:2383:47906:17703

PCDHA6

PCDHAC1

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

667

medium

in-frame

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

ENSG00000081842.18

ENSG00000248383.5

ENST00000378126.4

ENST00000253807.3

downstream

upstream

duplicates(15),mismatches(1)

GGCCCACCCAAGATGGATCTCATGGCCTTTAGCCCCAGCCTTTCACCTTGTCCTATTATGATGGGTAAGGCGGAGAATCAGGATTTAAATGAAGATCATGATGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAG___AACCAGAGGCAGGAGAAGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCC

GPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQ

LH00995:41:23WJ53LT4:1:2442:10522:8020,LH00995:41:23WJ53LT4:3:1478:28894:18655,LH00995:41:23WJ53LT4:4:1448:7674:19622,LH00995:41:23WJ53LT4:4:2425:10748:19622,LH00995:41:23WJ53LT4:5:1205:21007:27245,LH00995:41:23WJ53LT4:5:2267:49661:12952,LH00995:41:23WJ53LT4:5:2267:49669:12938,LH00995:41:23WJ53LT4:5:2484:7796:14256,LH00995:41:23WJ53LT4:1:1487:22147:27876,LH00995:41:23WJ53LT4:3:1382:45236:18431,LH00995:41:23WJ53LT4:3:1402:6113:8370,LH00995:41:23WJ53LT4:4:2149:29970:24190,LH00995:41:23WJ53LT4:4:2251:5045:6072,LH00995:41:23WJ53LT4:5:1217:39808:21584,LH00995:41:23WJ53LT4:5:2175:2739:12056,LH00995:41:23WJ53LT4:5:2175:2747:12070,LH00995:41:23WJ53LT4:5:2319:41766:25087,LH00995:41:23WJ53LT4:5:2451:13960:17703,LH00995:41:23WJ53LT4:6:1233:23061:1350,LH00995:41:23WJ53LT4:6:1233:23070:1336

PCDHA6

PCDHAC2

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

667

medium

in-frame

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

ENSG00000081842.18

ENSG00000243232.6

ENST00000378126.4

ENST00000289269.7

downstream

upstream

duplicates(15),mismatches(1)

GPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQ

PCDHA6

PCDHA13

+/+

chr5:140830485

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

667

medium

in-frame

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

ENSG00000081842.18

ENSG00000239389.8

ENST00000378126.4

ENST00000289272.3

downstream

upstream

duplicates(15),mismatches(1)

GPPKMDLMAFSPSLSPCPIMMGKAENQDLNEDHDAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQ

EED

STIM1

+/+

chr11:86277991

chr11:4082184

CDS/splice-site

duplication

609

1637

medium

out-of-frame

WD_domain__G-beta_repeat(100%)|STIM1_Orai1-activating_region(100%)

ENSG00000074266.22

ENSG00000167323.12

ENST00000263360.11

ENST00000526596.2

downstream

upstream

duplicates(9)

AGATGATATAGATAAAATTAAACCCAGTGAATCTAATGTGACTATTCTTGGGCGATTTGATTACAGCCAGTGTGACATTTGGTACATGAGGTTTTCTATGGATTTCTGGCAAAAG___ATGCTTGCATTGGGCAATCAAGTTGGCAAACTTTATGTTTGGGATTTAGAAGTAGAAGATCCTCATAAAGCCAA|GTTCGGGAGGCCTTGAGGAAAGCAGAGAAGGAGCTAGAATCTCACAGCTCATGGTATGCTCCAGAGGCCCTTCAGAAGTGGCTGCAGCTGACACATGAGGTGGAGGTGCAgTATTACAACATCAAGAAGCAAAATGCTGAGAAGCAGCTGCTGGTGGCCAAGGA

DDIDKIKPSESNVTILGRFDYSQCDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAk|fgrp*

LH00995:41:23WJ53LT4:2:1224:29614:8020,LH00995:41:23WJ53LT4:2:1422:14672:22355,LH00995:41:23WJ53LT4:2:1422:14680:22369,LH00995:41:23WJ53LT4:3:1165:42817:16203,LH00995:41:23WJ53LT4:3:2260:20521:8861,LH00995:41:23WJ53LT4:5:1164:47606:26657,LH00995:41:23WJ53LT4:5:1164:47615:26642,LH00995:41:23WJ53LT4:5:2124:38926:15769,LH00995:41:23WJ53LT4:1:2188:9503:8160,LH00995:41:23WJ53LT4:1:2188:9519:8160,LH00995:41:23WJ53LT4:1:2188:9535:8160,LH00995:41:23WJ53LT4:4:1335:49856:5078,LH00995:41:23WJ53LT4:4:1366:6566:21010

MIGA1

STON2

+/-

-/-

chr1:77870319

chr14:81278739

intron

CDS/splice-site

translocation/3'-3'

5498

medium

|Adaptor_complexes_medium_subunit_family(100%),Stonin_2(38%)

ENSG00000180488.15

ENSG00000140022.13

ENST00000649389.1

upstream

downstream

duplicates(5),multimappers(3)

GAGCCTCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCtGCCCATCGTCTGAGATGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAA|ACAATTCCTCCTCGCTTCAAGAAGATGAAGAAGTAGAGATGGAGGCCATCAGCTGGCAGGCCAGCAGTCCAGCCATGAATGGGCACCCTGCCCCTCCAGTGACCTCTGCTCGTTTTCCCAGCTGGGTCACCTTTGATGACAATGAAGTCAGCTGCCCTTTACCACCAGTCACC

LH00995:41:23WJ53LT4:5:1323:45924:13989,LH00995:41:23WJ53LT4:5:1323:45932:13975,LH00995:41:23WJ53LT4:3:2193:25335:9295,LH00995:41:23WJ53LT4:3:2193:25343:9281,LH00995:41:23WJ53LT4:4:1138:17997:15559,LH00995:41:23WJ53LT4:4:1138:18005:15545,LH00995:41:23WJ53LT4:4:2189:3864:19692,LH00995:41:23WJ53LT4:5:2279:2319:29291,LH00995:41:23WJ53LT4:1:2495:24437:20855,LH00995:41:23WJ53LT4:3:1468:45252:24625,LH00995:41:23WJ53LT4:3:2243:9948:20813,LH00995:41:23WJ53LT4:5:2121:2853:27105

LINC02228

PTTG1IP

-/+

-/-

chr5:25144223

chr21:44855257

intron

translocation/3'-3'

11221

medium

ENSG00000251273.4

ENSG00000183255.12

ENST00000330938.8

downstream

duplicates(1)

GGGAGGAGGAGGAGGAGGAGGAAC|GGAGAGCAGAGATGAAGACAAGACATGATGAAATCAGAAAAAAATATG___GCCTGTTTAAAGAAGAAAACCCGTATGCTAGATTTGAAAACAACTAAAGCGCTCCAGCACATCAGTCCCGACGCTTCCTGTGAGGTGCACaCTCCGCAGCCCAGCCCAGCCGGGAGACCACGTGGCCATTGCGGTCTCCTGACCTTGGCCAGTGAACCTGCCAGCCTTCCAG

LH00995:41:23WJ53LT4:1:2185:3840:17885,LH00995:41:23WJ53LT4:1:2185:3848:17871,LH00995:41:23WJ53LT4:1:2280:34266:22159,LH00995:41:23WJ53LT4:5:2221:11574:9253,LH00995:41:23WJ53LT4:6:1195:5296:8216

PCDHGB3

PCDHGA8

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000253767.3

ENST00000618934.1

ENST00000398604.3

downstream

upstream

duplicates(9)

CAGCGAAAGGACTTTGCCTTATTCCTACAATCCGTGTGCTGCCTCACATTCCTCAAACACCGAGTTTAAATTTCTCAATATAAAGGCTGAAAATGCTGCACCACAAGATCTTCTATGTGATGAAGCCTCTTGGTTTGAAAGTAATGACAATCCAGAAATGCCTTCTAATTCAGGCAATTTGCAAAAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGCGCCCG

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

LH00995:41:23WJ53LT4:2:1334:24348:19076,LH00995:41:23WJ53LT4:3:1195:12148:19692,LH00995:41:23WJ53LT4:3:1195:12164:19692,LH00995:41:23WJ53LT4:5:1204:43650:23840,LH00995:41:23WJ53LT4:5:1204:43667:23840,LH00995:41:23WJ53LT4:5:1257:17374:26783,LH00995:41:23WJ53LT4:5:1257:17390:26783,LH00995:41:23WJ53LT4:5:2129:43222:8525,LH00995:41:23WJ53LT4:1:2304:48699:23308,LH00995:41:23WJ53LT4:1:2374:14777:29543,LH00995:41:23WJ53LT4:3:1404:4786:16834,LH00995:41:23WJ53LT4:4:1148:6275:7221,LH00995:41:23WJ53LT4:4:2192:31435:7726

PCDHGB3

PCDHGA10

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000253846.2

ENST00000618934.1

ENST00000398610.2

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGB3

PCDHGA11

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000253873.6

ENST00000618934.1

ENST00000398587.7

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGB3

PCDHGB6

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000253305.2

ENST00000618934.1

ENST00000520790.1

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGB3

PCDHGA9

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000261934.2

ENST00000618934.1

ENST00000573521.1

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGB3

PCDHGC5

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000240764.4

ENST00000618934.1

ENST00000252087.3

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGB3

PCDHGC4

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000242419.5

ENST00000618934.1

ENST00000306593.1

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGB3

PCDHGB7

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000254122.3

ENST00000618934.1

ENST00000398594.4

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGB3

PCDHGC3

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000240184.7

ENST00000618934.1

ENST00000308177.5

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

PCDHGB3

PCDHGA12

+/+

chr5:141372809

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

medium

in-frame

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

ENSG00000262209.3

ENSG00000253159.3

ENST00000618934.1

ENST00000252085.4

downstream

upstream

duplicates(9)

SERTLPYSYNPCAASHSSNTEFKFLNIKAENAAPQDLLCDEASWFESNDNPEMPSNSGNLQK|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSA

ASAP1

SRRM2

-/+

+/+

chr8:130071004

chr16:2757473

intron

CDS/splice-site

translocation/3'-3'

12276

medium

|cwf21_domain(45%)

ENSG00000153317.15

ENSG00000167978.17

ENST00000301740.13

downstream

upstream

duplicates(2),mismatches(9)

GGGGGAGAGAGAGAGAGAGAGGGG|TACGAGGAACAGCAAATTCAGGAAAAAGTGGCGACCTTTCGACTCATGTTGCTGGAGAAGGATGTGAACCCTGGGGGCAAGGAGGAGACCCCAGGGCAGAGGCCAGC___GGTCACGGAGACTCACCAGTTGGCAGAATTAAATGAGAAGAAGAATGAAA

LH00995:41:23WJ53LT4:1:2133:23895:14312,LH00995:41:23WJ53LT4:1:2305:20351:13807,LH00995:41:23WJ53LT4:2:1145:43764:24681,LH00995:41:23WJ53LT4:2:1242:43505:20421,LH00995:41:23WJ53LT4:2:2173:33465:6367,LH00995:41:23WJ53LT4:3:1312:42073:23826,LH00995:41:23WJ53LT4:3:1384:21087:26797,LH00995:41:23WJ53LT4:3:1449:11735:25227,LH00995:41:23WJ53LT4:3:2318:28733:16021,LH00995:41:23WJ53LT4:3:2320:22981:8132,LH00995:41:23WJ53LT4:4:1364:3686:22439,LH00995:41:23WJ53LT4:4:1439:42494:28450,LH00995:41:23WJ53LT4:4:1496:12010:4909,LH00995:41:23WJ53LT4:5:2217:15708:4503

PDGFD(76126),AP003304.1(12086)

RAD23A

./-

+/+

chr11:104240505

chr19:12952938

intergenic

CDS/splice-site

translocation

2932

medium

|UBA/TS-N_domain(52%),XPC-binding_domain(0%)

ENSG00000179262.10

ENST00000586534.6

upstream

duplicates(1)

GGGGGAGAGAGAGAGAGAGAGGTT|GAAGGCCCTGGGCTTCCCAGAGAGCCTGGTCATCCAGGCCTATTTCGCGTGTGAAAAAAATGAGAACTTGGCTGCCAACTTCCTCCTGAGTCAGAACTTTGATGACGAGTGATGCCAGGAAGCCAGGCC

LH00995:41:23WJ53LT4:1:1412:37057:26853,LH00995:41:23WJ53LT4:3:1287:10570:3228,LH00995:41:23WJ53LT4:4:2185:20335:12154,LH00995:41:23WJ53LT4:5:1276:39047:26012,LH00995:41:23WJ53LT4:5:2393:45171:12434

USPL1

HMGB1P1

+/-

-/-

chr13:30618218

chr20:57489041

intron

intergenic

translocation/3'-3'

medium

ENSG00000132952.12

ENSG00000124097.7

ENST00000522557.1

upstream

downstream

duplicates(2)

GGAACAGGGTCAGCTTTCTGCACCCAGCCCTGTCAGGTACCAAACCCAACTGTCTTGAATCAGAGACGAACAGGACCAAAGGAGGTGAGTTTCAACACCCAAACTAAGAAGCCGAAGGAGGCGCAGGGTCCGTTAACCCTGCCCATCTCCACGCTCCTTGGAAAACGAAAACAAACTCTGGTTTCTCTTCAGCGTTCACCTCTCTGCGCCCAAACGGATCT|AAAAATAACTAAACATGGGCAAAGGAGATCCTAAGAAGCCGAGAGGCAAAATGTCATCATATGCATTTTTTGTGCAAACTTGTCG

LH00995:41:23WJ53LT4:1:1310:25925:19006,LH00995:41:23WJ53LT4:3:2320:16711:22018,LH00995:41:23WJ53LT4:4:2374:23167:1280,LH00995:41:23WJ53LT4:3:1290:13289:5946,LH00995:41:23WJ53LT4:5:2316:3484:26769

FBXO25

BET1L

+/+

-/-

chr8:435707

chr11:169052

CDS/splice-site

translocation

519

851

medium

out-of-frame

ENSG00000147364.17

ENSG00000177951.17

ENST00000352684.2

ENST00000410108.5

downstream

duplicates(4),mismatches(1),multimappers(2)

GGAAAAAGGACCATTTTAGAAATGACACAAATACTCAAA___AGGCATGGCTATTGCACCTTGGGAGAAGCCTTTAATCGGTTAGACTTCTCAAGTGCAATTCAAGATATCCGAAGGTTCAATTATGTGGTCAAA|ATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCAGTCCCAGAACCCGCCAATGCTGGGGAACGGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAGTGGAGGAGACGAAACTCATCTGCCTCTGTCCCT

GKRTILEMTQILKRHGYCTLGEAFNRLDFSSAIQDIRRFNYVVK|mmiiphllrdkdqrattatsprtrqcwgtenegvqlwpsqssggdethlpls

LH00995:41:23WJ53LT4:3:1302:3807:27161,LH00995:41:23WJ53LT4:3:2270:46498:9351,LH00995:41:23WJ53LT4:5:1251:45948:26979,LH00995:41:23WJ53LT4:5:2131:23733:19945,LH00995:41:23WJ53LT4:6:1170:31038:19258,LH00995:41:23WJ53LT4:6:1170:31046:19244,LH00995:41:23WJ53LT4:1:1389:27713:6941,LH00995:41:23WJ53LT4:1:1389:27721:6955,LH00995:41:23WJ53LT4:3:1264:22778:11902,LH00995:41:23WJ53LT4:5:2306:20626:8679

RPL23AP53

SEPTIN14

-/-

chr8:232129

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

619

medium

ENSG00000223508.5

ENSG00000154997.9

ENST00000606507.1

ENST00000388975.4

upstream

downstream

GCCGGTTGAAAGCGCGTGTCTGCGTCGGGTTCTGTTGGAGTGCGTTCGGTGTGCCGTGGGTCCGCGCTGCTTCCACCCAACTTCCTGTTAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCA

LH00995:41:23WJ53LT4:1:1197:4592:7306,LH00995:41:23WJ53LT4:6:1171:21710:16385,LH00995:41:23WJ53LT4:6:1228:19817:15685

RPL23AP53

SEPTIN14

-/-

chr8:230804

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

619

low

ENSG00000223508.5

ENSG00000154997.9

ENST00000606507.1

ENST00000388975.4

upstream

downstream

duplicates(1)

AATGGCATGGTCTCGCCTCACTGCGACCTCTGCTTCCTGGGTTCAAGGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAA

LH00995:41:23WJ53LT4:2:1321:23862:11313,LH00995:41:23WJ53LT4:2:1321:23879:11313

BMPR1B

PDLIM5

+/+

chr4:94758068

chr4:94573351

5'UTR/splice-site

CDS/splice-site

duplication

900

3763

medium

|Domain_of_unknown_function_(DUF4749)(100%),LIM_domain(100%)

ENSG00000138696.11

ENSG00000163110.15

ENST00000515059.6

ENST00000317968.9

downstream

upstream

duplicates(1)

GCGCGGGGCGCGGAGTCGGCGGGGCCTCGCGGGACGCCGGGCAGTGCGGAGACCGCGGCGCTGAGGACGCGGGAGCCGGGAGCGCAGCCGCGG|AGCATCTGCTGCACCCAAGCCTGAGCCGGTTCCTGTTCAAAAG___GGAGAACCTAAAGAAGTAGTTAAACCTGTGCCCATTACATCTCCTGCTGTGTCCAAAGTCACTTCCACAAACAACATGGCCTACAATAAGGCACCACGGC

LH00995:41:23WJ53LT4:1:1368:8872:28226,LH00995:41:23WJ53LT4:4:1234:3597:10346,LH00995:41:23WJ53LT4:6:1220:28021:27147,LH00995:41:23WJ53LT4:3:1190:48229:15040

BMPR1B

PDLIM5

+/+

chr4:94875900

chr4:94640276

5'UTR/splice-site

CDS/splice-site

duplication

904

2547

low

|LIM_domain(100%)

ENSG00000138696.11

ENSG00000163110.15

ENST00000515059.6

ENST00000437932.5

downstream

upstream

GCGCAGCCGCGG___GGTGGAGTTCAGCCTACTCTTTCTTAGATGTGAAAGGAAAGGAAGATCATTTCATGCCTTGTTGATAAAG|TACCTTCCACTGGAAGAATCTCAAACAGCGCTgCTTACTCAGG

LH00995:41:23WJ53LT4:5:2205:51198:7460

BMPR1B

PDLIM5

+/+

chr4:94758068

chr4:94523724

5'UTR/splice-site

CDS/splice-site

duplication

900

6084

low

|Domain_of_unknown_function_(DUF4749)(100%),LIM_domain(100%),PDZ_domain(68%)

ENSG00000138696.11

ENSG00000163110.15

ENST00000515059.6

ENST00000615540.4

downstream

upstream

GTCGGCGGGGCCTCGCGGGACGCCGGGCAGTGCGGAGACCGCGGCGCTGAGGACGCGGGAGCCGGGAGCGCAGCCGCGG|CTAAAAGATGGCGGCAAGGCAGCCCAGGCAAATGTAAGAATAGG

LH00995:41:23WJ53LT4:5:1280:47218:23798

CAPN13

CHMP1A

-/-

chr2:30730730

chr16:89647331

3'UTR/splice-site

CDS/splice-site

translocation

3410

3787

medium

stop-codon

Calpain_family_cysteine_protease(100%),Calpain_large_subunit__domain_III(100%)|Snf7(52%)

ENSG00000162949.16

ENSG00000131165.16

ENST00000295055.12

ENST00000675909.1

upstream

downstream

duplicates(2)

GCGGCTTGAAGCCATGGCAA___AGACCTTCCGCAACCTCTCTAAGGATGGAAAAGGACTCTACCTGACAGAAATGGAG___TGGATGAGCCTGGTCATGTACAACTGAAGCAAAGAGGAAAGCAGACCCATGGCTCAG|GTGACCAAGAATATGGCCCAGGTGACCAAAGCCCTGGACAAGGCCCTGAGCACCATGGACCTGCAGAAGGTCTCCTCAGTGATGGACAGGTTCGAGCAGCAGGTGCAGAACCTGGACGTCCATACATCG...GGAGCAGGTGGACAGCCTCATCATGCAGATCGCCGAGGAGAATGGCCTGGAGGTGCTGGACCAGCTCAGCCAGCTGCCCGAGGGCGCCTCTGCCGTGGGCGAGAGCTCTGTGCGCAGCCAGGAGGACCAGCTGTCACGGAG___GTTGGCCGCC

LH00995:41:23WJ53LT4:3:1175:20667:10739,LH00995:41:23WJ53LT4:3:2332:44006:25522,LH00995:41:23WJ53LT4:5:1437:31977:10486,LH00995:41:23WJ53LT4:5:1437:31985:10472,LH00995:41:23WJ53LT4:6:1216:23652:15937

NEDD1

CFAP54

+/+

chr12:96909895

chr12:96786797

CDS/splice-site

CDS

duplication

504

102

medium

out-of-frame

WD_domain__G-beta_repeat(54%)|

ENSG00000139350.12

ENSG00000188596.11

ENST00000266742.9

ENST00000524981.9

downstream

upstream

duplicates(1)

TCCCTTAATGCTCAGTTCTTAGAAGACCGAG___GCGCAGTCATGCAGGAAAACCTCAGATTTGCTTCATCAGGAGATGATATTAAAATATGGGATGCTTCATCTATGACATTGGTGGATAAATTCAACCCACACACATCACCACATGGAATCAGCTCAATATGTTGGAGCAGCAATA|CTGTATTCTTCTTCTTGTATTGATGAATTTCCAAAAGAACTTCTTTGTCAACTGGAAAATCCCCCTCTTTCAGAAAAAGACTTACGTGAATCATCTGCCAAG___TTGTATCGCGATAGTTCTGTACAATCCATTTTATCTTTTAAGCCTGTTTCAGGCTCATCTTGTGTGGACATAACGCCA

MQENLRFASSGDDIKIWDASSMTLVDKFNPHTSPHGISSICWSSN|tvfffly*

LH00995:41:23WJ53LT4:1:1235:42016:9379,LH00995:41:23WJ53LT4:4:2166:34226:18361,LH00995:41:23WJ53LT4:5:2485:18183:3354,LH00995:41:23WJ53LT4:4:1442:4406:16119

AC140479.3

MALL

+/+

-/-

chr2:110245793

chr2:110091770

exon/splice-site

CDS/splice-site

inversion

9731

medium

|Membrane-associating_domain(91%)

ENSG00000261760.8

ENSG00000144063.4

ENST00000562665.5

ENST00000272462.3

downstream

duplicates(1),mismatches(1)

GCTGCCTGCGCCCGCAGCCCGGCGAGGAGCCGCAGACCCATGAG|ATATTTGGGTTCTTGGTCTGGACCATGGTAGCCGCCACCCACATAGTATACCCCTTGCTGCAAGGATGGGTGATGTATGTCTCGCTCACCTCGTTTCTCATCTCCTTGATGTTCCTGTTGTCTTACTTGTTTGGATTTTACAAAAGATTTGAATCCTGGAGAGTTCTGG

LH00995:41:23WJ53LT4:1:1177:33441:7614,LH00995:41:23WJ53LT4:2:1114:28522:23420,LH00995:41:23WJ53LT4:2:1114:50511:15601,LH00995:41:23WJ53LT4:2:1303:44031:20267,LH00995:41:23WJ53LT4:4:1393:6267:5190

POLR2J

PMS2P12(3063),SPDYE6(3568)

-/-

./+

chr7:102474361

chr7:102342178

CDS/splice-site

intergenic

inversion

4004

417

medium

out-of-frame

RNA_polymerase_Rpb3/Rpb11_dimerisation_domain(100%)|

ENSG00000005075.15

ENST00000292614.9

upstream

duplicates(5)

ATTTGCTGGCTACAAAGTCCCCCACCCCTTGGAGCACAAGATCATCATCCGAGTGCAGACCACGCCGGACTACAGCCCCCAGGAAGCCTTTACCAACGCCATCACCGACCTCATCAGTGAGCTGTCCCTGCTGGAGGAGCGCTTTCGG|CCAGACGTGCCTGCTTCCCCTTCGCCTTCTGCCGTGATTGTCAGTTTCCTGAGGCCTCCCCAGCCACGCTTCCTGTACAGCCTGCAGAACTGTGAGTCAATTAAACCTCTTTTCTTCATAAATTACCCAGTTTCTCATAGTTCTTTATAGCAGTGTGAAA

FAGYKVPHPLEHKIIIRVQTTPDYSPQEAFTNAITDLISELSLLEERFR|pdvpaspspsavivsflrppqprflyslqncesikplffinypvshssl*

LH00995:41:23WJ53LT4:3:1431:17334:24919,LH00995:41:23WJ53LT4:3:1431:17342:24905,LH00995:41:23WJ53LT4:4:1485:29663:12644,LH00995:41:23WJ53LT4:3:1109:24315:24793,LH00995:41:23WJ53LT4:3:1356:46393:26713,LH00995:41:23WJ53LT4:3:2195:39201:26278,LH00995:41:23WJ53LT4:3:2312:13685:7306,LH00995:41:23WJ53LT4:4:1319:45066:18165

AL163540.1(12367),FLJ43315(428)

CBWD3

./-

+/+

chr9:64016522

chr9:68256921

intergenic

CDS/splice-site

inversion

997

medium

|CobW/HypB/UreG__nucleotide-binding_domain(46%),Cobalamin_synthesis_protein_cobW_C-terminal_domain(100%)

ENSG00000196873.16

ENST00000621396.4

upstream

duplicates(1)

CGGCGCAGGCGCAGAGAGGCAGAAGGCCCATGAGGGGAAG|GTGCAGTGGCTTCTATGTTTTGGGTTGATGCTGAATTAGGGAGTGATATTTACCTTGATG___GTATCATAACTATTGTGGATTCAAAATATGGATTAAAA___GTGAAATACCACTAAAG

LH00995:41:23WJ53LT4:2:1308:40795:23658,LH00995:41:23WJ53LT4:2:2214:23830:10388,LH00995:41:23WJ53LT4:3:2292:47655:28394

CPEB2

+/+

chr4:15004134

chr4:15004132

CDS

duplication/ITD

1226

740

low

in-frame

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

ENSG00000137449.17

ENST00000538197.7

downstream

upstream

duplicates(37),low_entropy(1)

GCGGCAGCGGCGGCTCGCTCAGCGCCATGCCGCCGCCCAGCCCCGACTCAGAGAACGGtTTCTACCCCGGGCTGCCGTCGTCCATGAACCCGGCCTTCTTCCCTAGCTTCTCGCCCGTGTCGCCGCACGGCTGCACTGGGCTCAGCGTTCCGACGAGCGGCGGCGGCGGCGGCGGC|GGCTTCGGCGGCCCCTTCTCGGCTACCGCTGTGCCCCCTCCGCCGCCGCCCGCCATGAATATACCTCAACAGCAGCC

GSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGG|GFGGPFSATAVPPPPPPAMNIPQQQ

LH00995:41:23WJ53LT4:1:1146:4414:18011,LH00995:41:23WJ53LT4:1:1170:12221:26236,LH00995:41:23WJ53LT4:1:1197:33101:17787,LH00995:41:23WJ53LT4:1:1237:1049:17002,LH00995:41:23WJ53LT4:1:1241:43861:18908,LH00995:41:23WJ53LT4:1:1273:14518:23826,LH00995:41:23WJ53LT4:1:1471:43659:14802,LH00995:41:23WJ53LT4:1:1479:9535:4293,LH00995:41:23WJ53LT4:1:2166:6477:26320,LH00995:41:23WJ53LT4:1:2222:45827:27441,LH00995:41:23WJ53LT4:1:2249:47105:20547,LH00995:41:23WJ53LT4:1:2273:6186:10626,LH00995:41:23WJ53LT4:1:2329:40495:24989,LH00995:41:23WJ53LT4:1:2362:25901:2513,LH00995:41:23WJ53LT4:1:2393:26403:3158,LH00995:41:23WJ53LT4:1:2464:29396:17142,LH00995:41:23WJ53LT4:1:2464:48019:25241,LH00995:41:23WJ53LT4:2:1167:49758:14298,LH00995:41:23WJ53LT4:2:1217:42202:5274,LH00995:41:23WJ53LT4:2:1336:24647:23322,LH00995:41:23WJ53LT4:2:1353:14203:25606,LH00995:41:23WJ53LT4:2:1369:11703:5106,LH00995:41:23WJ53LT4:2:1442:19623:1196,LH00995:41:23WJ53LT4:2:1467:13232:9772,LH00995:41:23WJ53LT4:2:1471:3378:13107,LH00995:41:23WJ53LT4:2:1471:3387:13121,LH00995:41:23WJ53LT4:2:1479:21079:7025,LH00995:41:23WJ53LT4:2:1497:6962:15727,LH00995:41:23WJ53LT4:2:2138:49508:2709,LH00995:41:23WJ53LT4:2:2277:45446:5288,LH00995:41:23WJ53LT4:2:2278:51223:27651,LH00995:41:23WJ53LT4:3:1105:36628:15321,LH00995:41:23WJ53LT4:3:1105:36645:15321,LH00995:41:23WJ53LT4:3:1241:11501:27904,LH00995:41:23WJ53LT4:3:1287:24048:21388,LH00995:41:23WJ53LT4:3:1334:40957:20771,LH00995:41:23WJ53LT4:3:1383:22924:19132,LH00995:41:23WJ53LT4:3:1391:30019:3228,LH00995:41:23WJ53LT4:3:1479:32244:21346,LH00995:41:23WJ53LT4:3:1494:6736:12252,LH00995:41:23WJ53LT4:3:2107:35237:25409,LH00995:41:23WJ53LT4:3:2135:18709:1546,LH00995:41:23WJ53LT4:3:2142:36887:21430,LH00995:41:23WJ53LT4:3:2147:35148:9113,LH00995:41:23WJ53LT4:3:2148:23482:1659,LH00995:41:23WJ53LT4:3:2205:16638:13261,LH00995:41:23WJ53LT4:3:2225:28110:9674,LH00995:41:23WJ53LT4:3:2233:18669:18908,LH00995:41:23WJ53LT4:3:2280:5158:5988,LH00995:41:23WJ53LT4:3:2304:16695:12434,LH00995:41:23WJ53LT4:3:2311:36345:26180,LH00995:41:23WJ53LT4:3:2318:17811:19440,LH00995:41:23WJ53LT4:3:2320:32850:15783,LH00995:41:23WJ53LT4:3:2330:30415:28576,LH00995:41:23WJ53LT4:3:2349:20311:13401,LH00995:41:23WJ53LT4:3:2390:32939:6100,LH00995:41:23WJ53LT4:3:2436:50058:10108,LH00995:41:23WJ53LT4:3:2436:50074:10108,LH00995:41:23WJ53LT4:3:2476:49305:24499,LH00995:41:23WJ53LT4:3:2476:49322:24499,LH00995:41:23WJ53LT4:4:1184:6679:25970,LH00995:41:23WJ53LT4:4:1238:31038:17156,LH00995:41:23WJ53LT4:4:1261:35787:20841,LH00995:41:23WJ53LT4:4:1276:32656:3873,LH00995:41:23WJ53LT4:4:1326:49734:5764,LH00995:41:23WJ53LT4:4:1330:16096:1420,LH00995:41:23WJ53LT4:4:1341:22762:12742,LH00995:41:23WJ53LT4:4:1378:37397:23350,LH00995:41:23WJ53LT4:4:1394:41102:7768,LH00995:41:23WJ53LT4:4:1411:19203:16834,LH00995:41:23WJ53LT4:4:1429:36693:18599,LH00995:41:23WJ53LT4:4:1429:36701:18613,LH00995:41:23WJ53LT4:4:1461:35512:15405,LH00995:41:23WJ53LT4:4:1482:43675:25704,LH00995:41:23WJ53LT4:4:1495:45762:16259,LH00995:41:23WJ53LT4:4:2137:2036:13051,LH00995:41:23WJ53LT4:4:2148:11388:3494,LH00995:41:23WJ53LT4:4:2165:6760:6016,LH00995:41:23WJ53LT4:4:2314:23231:10192,LH00995:41:23WJ53LT4:4:2402:13499:15082,LH00995:41:23WJ53LT4:4:2414:36556:12000,LH00995:41:23WJ53LT4:4:2448:36701:12924,LH00995:41:23WJ53LT4:5:1107:37081:15993,LH00995:41:23WJ53LT4:5:1107:37089:16007,LH00995:41:23WJ53LT4:5:1151:36992:14382,LH00995:41:23WJ53LT4:5:1154:47412:2387,LH00995:41:23WJ53LT4:5:1215:16937:11117,LH00995:41:23WJ53LT4:5:1291:5474:14858,LH00995:41:23WJ53LT4:5:1294:45285:23588,LH00995:41:23WJ53LT4:5:1344:5725:21822,LH00995:41:23WJ53LT4:5:1480:27681:24933,LH00995:41:23WJ53LT4:5:1480:27689:24947,LH00995:41:23WJ53LT4:5:1485:13912:5400,LH00995:41:23WJ53LT4:5:1492:36620:23181,LH00995:41:23WJ53LT4:5:2207:10530:20954,LH00995:41:23WJ53LT4:5:2207:45301:14956,LH00995:41:23WJ53LT4:5:2212:16395:25564,LH00995:41:23WJ53LT4:5:2250:16589:19454,LH00995:41:23WJ53LT4:5:2289:7836:6283,LH00995:41:23WJ53LT4:5:2323:34905:5190,LH00995:41:23WJ53LT4:5:2357:35188:22663,LH00995:41:23WJ53LT4:5:2483:6097:15124,LH00995:41:23WJ53LT4:6:1138:12350:5022,LH00995:41:23WJ53LT4:6:1155:4009:2850,LH00995:41:23WJ53LT4:6:1217:2456:10164,LH00995:41:23WJ53LT4:6:1224:46733:1911

ADAMTS7

-/-

chr15:78765842

chr15:78765848

CDS

duplication/ITD

1038

841

low

out-of-frame

ADAM-TS_Spacer_1(100%),ADAMTS_cysteine-rich_domain_2(100%),Reprolysin_(M12B)_family_zinc_metalloprotease_(100%),Reprolysin_family_propeptide(100%),Thrombospondin_type_1_domain(50%)|Thrombospondin_type_1_domain(49%)

ENSG00000136378.15

ENST00000388820.5

upstream

downstream

duplicates(52)

AGGgCAGGGACAGTTCCCTGGAGCCaGGGACTCCCaCCTTCCCAACCCCAGGACCAGGCTCATGGGACCTGCAGACTGTGGCAGTGTGGGGGACCTTCCTCCCCACAACCCTGACTGGCCTCGGGCACATGCCTGAGCCTGCCCTGAACCCAGGACCCA|GGACCCAAGGGcCAGCCTGAGTCCCTCAGCCCTGAGGTGCCCCTGAGCTCTAGGCTGCTGTCCACACCAGCTTGGGACAGCCCCGCCAACAGCCACAGAGcCCCTGAGACCCAGCC

gRDSSLEPGTPtFPTPGPGSWDLQTVAVWGTFLPTTLTGLGHMPEPALNPGP|rtqgpa*

LH00995:41:23WJ53LT4:1:1154:10433:1476,LH00995:41:23WJ53LT4:1:1167:20529:11453,LH00995:41:23WJ53LT4:1:1177:15449:21318,LH00995:41:23WJ53LT4:1:1177:15465:21318,LH00995:41:23WJ53LT4:1:1244:8491:5484,LH00995:41:23WJ53LT4:1:1246:39274:22481,LH00995:41:23WJ53LT4:1:1275:17989:22074,LH00995:41:23WJ53LT4:1:1275:17997:22060,LH00995:41:23WJ53LT4:1:1357:52169:19006,LH00995:41:23WJ53LT4:1:1395:22576:16596,LH00995:41:23WJ53LT4:1:1397:24696:20323,LH00995:41:23WJ53LT4:1:1397:24712:20323,LH00995:41:23WJ53LT4:1:1467:27479:25564,LH00995:41:23WJ53LT4:1:1475:49176:5414,LH00995:41:23WJ53LT4:1:2147:18224:1631,LH00995:41:23WJ53LT4:1:2147:21710:6661,LH00995:41:23WJ53LT4:1:2314:46628:26783,LH00995:41:23WJ53LT4:1:2360:4301:22467,LH00995:41:23WJ53LT4:1:2395:16962:21948,LH00995:41:23WJ53LT4:1:2480:36458:20771,LH00995:41:23WJ53LT4:2:1134:22649:19188,LH00995:41:23WJ53LT4:2:1160:2739:10402,LH00995:41:23WJ53LT4:2:1231:47000:11761,LH00995:41:23WJ53LT4:2:1294:47032:10893,LH00995:41:23WJ53LT4:2:1324:38756:21024,LH00995:41:23WJ53LT4:2:1377:3751:28997,LH00995:41:23WJ53LT4:2:1415:47364:18669,LH00995:41:23WJ53LT4:2:1427:35981:25998,LH00995:41:23WJ53LT4:2:2156:50624:21262,LH00995:41:23WJ53LT4:2:2243:27398:27273,LH00995:41:23WJ53LT4:2:2256:36386:29053,LH00995:41:23WJ53LT4:2:2278:5773:28072,LH00995:41:23WJ53LT4:2:2285:12811:28744,LH00995:41:23WJ53LT4:2:2285:12828:28744,LH00995:41:23WJ53LT4:2:2285:12844:28744,LH00995:41:23WJ53LT4:2:2317:19647:17941,LH00995:41:23WJ53LT4:2:2344:32664:2149,LH00995:41:23WJ53LT4:2:2354:12844:2457,LH00995:41:23WJ53LT4:2:2443:28385:8553,LH00995:41:23WJ53LT4:2:2461:47971:20029,LH00995:41:23WJ53LT4:2:2489:21589:16792,LH00995:41:23WJ53LT4:3:1210:51231:21808,LH00995:41:23WJ53LT4:3:1234:12480:14438,LH00995:41:23WJ53LT4:3:1234:12496:14438,LH00995:41:23WJ53LT4:3:1328:20707:8286,LH00995:41:23WJ53LT4:3:1380:20473:25507,LH00995:41:23WJ53LT4:3:1402:7197:9491,LH00995:41:23WJ53LT4:3:1404:20400:29529,LH00995:41:23WJ53LT4:3:1423:51020:25648,LH00995:41:23WJ53LT4:3:2219:16420:25381,LH00995:41:23WJ53LT4:3:2342:5716:10458,LH00995:41:23WJ53LT4:3:2372:14001:29039,LH00995:41:23WJ53LT4:3:2372:14009:29053,LH00995:41:23WJ53LT4:3:2391:25982:27651,LH00995:41:23WJ53LT4:3:2407:27608:16568,LH00995:41:23WJ53LT4:3:2435:26330:11972,LH00995:41:23WJ53LT4:3:2467:6469:22523,LH00995:41:23WJ53LT4:4:1118:45519:24527,LH00995:41:23WJ53LT4:4:1343:24113:14970,LH00995:41:23WJ53LT4:4:2252:36669:5694,LH00995:41:23WJ53LT4:4:2285:44451:27834,LH00995:41:23WJ53LT4:4:2338:34582:16680,LH00995:41:23WJ53LT4:4:2375:21274:18235,LH00995:41:23WJ53LT4:5:1108:52040:10935,LH00995:41:23WJ53LT4:5:1109:43828:9604,LH00995:41:23WJ53LT4:5:1162:21290:11285,LH00995:41:23WJ53LT4:5:1241:51587:3396,LH00995:41:23WJ53LT4:5:1302:13232:26951,LH00995:41:23WJ53LT4:5:1333:51020:2023,LH00995:41:23WJ53LT4:5:1494:38780:27035,LH00995:41:23WJ53LT4:5:2117:50236:5260,LH00995:41:23WJ53LT4:5:2210:11752:13065,LH00995:41:23WJ53LT4:5:2216:49556:20393,LH00995:41:23WJ53LT4:5:2224:36143:10697,LH00995:41:23WJ53LT4:5:2458:19720:22719,LH00995:41:23WJ53LT4:6:1114:24234:20309,LH00995:41:23WJ53LT4:6:1202:22010:10907,LH00995:41:23WJ53LT4:1:1490:4843:7067,LH00995:41:23WJ53LT4:1:1490:4851:7081,LH00995:41:23WJ53LT4:2:2328:13095:4377,LH00995:41:23WJ53LT4:3:1218:9114:6871,LH00995:41:23WJ53LT4:4:2102:12763:19580,LH00995:41:23WJ53LT4:4:2206:22681:4755,LH00995:41:23WJ53LT4:5:2116:19809:1294,LH00995:41:23WJ53LT4:1:1140:30100:9169,LH00995:41:23WJ53LT4:1:1283:11161:20421,LH00995:41:23WJ53LT4:1:1339:19672:25886,LH00995:41:23WJ53LT4:1:1428:6517:17871,LH00995:41:23WJ53LT4:1:2183:8694:12392,LH00995:41:23WJ53LT4:1:2351:15133:11439,LH00995:41:23WJ53LT4:1:2398:6267:6647,LH00995:41:23WJ53LT4:2:1396:12447:14158,LH00995:41:23WJ53LT4:2:1418:43440:24344,LH00995:41:23WJ53LT4:2:2105:21913:5498,LH00995:41:23WJ53LT4:2:2131:3014:26572,LH00995:41:23WJ53LT4:2:2135:45754:18712,LH00995:41:23WJ53LT4:2:2203:6129:4923,LH00995:41:23WJ53LT4:2:2422:44540:6072,LH00995:41:23WJ53LT4:3:1252:31782:9085,LH00995:41:23WJ53LT4:3:1320:36766:25732,LH00995:41:23WJ53LT4:3:2269:30116:24415,LH00995:41:23WJ53LT4:3:2352:9697:1546,LH00995:41:23WJ53LT4:4:1149:40083:20071,LH00995:41:23WJ53LT4:4:1149:40091:20085,LH00995:41:23WJ53LT4:4:1396:1194:19945,LH00995:41:23WJ53LT4:4:2228:42688:8637,LH00995:41:23WJ53LT4:4:2351:11905:27763,LH00995:41:23WJ53LT4:4:2470:50503:18249,LH00995:41:23WJ53LT4:5:1145:24809:12952,LH00995:41:23WJ53LT4:5:1153:9672:19664,LH00995:41:23WJ53LT4:5:1323:42275:11061,LH00995:41:23WJ53LT4:5:2172:43214:10136,LH00995:41:23WJ53LT4:5:2278:29121:27932,LH00995:41:23WJ53LT4:5:2331:17285:22957,LH00995:41:23WJ53LT4:6:1123:7917:9562,LH00995:41:23WJ53LT4:6:1218:22317:15110,LH00995:41:23WJ53LT4:4:2115:29299:7782

DPYD

-/-

chr1:97305259

chr1:97382461

CDS/splice-site

duplication/non-canonical_splicing

1016

1413

low

out-of-frame

Dihydroorotate_dehydrogenase(76%),Dihydroprymidine_dehydrogenase_domain_II__4Fe-4S_cluster(100%),Pyridine_nucleotide-disulphide_oxidoreductase(100%)|4Fe-4S_dicluster_domain(100%),Dihydroorotate_dehydrogenase(66%)

ENSG00000188641.14

ENST00000370192.8

upstream

downstream

duplicates(32)

CTGGTGCGGAACATCTGCCGCTGGGTTAGGCAAGCTGTTCAGATTCCTTTTTTTGCCAAGCTGACCCCAAATGTCACTGATATTGTGAGCATCGCAAGAGCTGCAAAGGAAG___GTGGTGCCAATGGCGTTACAGCCACCAACACTGTCTCAGGTCTGATGGGATTAAAATCTGATGGCACACCTTGGCCAGCAGTGGGGATTGCAAAGCGAACTACATATGGAGGAGTGTCTG|ATTGTGATTGCTAGCATTATGTGCAGTTACAATAAAAATGACTGGACGGAACTTGCCAAGAAGTCTGAG___GATTCTGGAGCAGATGCCCTGGAGTTAAATTTATCATGTCCACATGGCATGGGAGAAAGAGGAATGGGCCTGGCCTGTGGGCAG___GATCCAGAGCTGGTGCGGAACATCTGCCGCTGGGTTAGGCAAGCTGTTCAGATTCCTTTTTTTGCCAAGCTGACC

LVRNICRWVRQAVQIPFFAKLTPNVTDIVSIARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVS|dcdc*

LH00995:41:23WJ53LT4:1:2196:40423:13849,LH00995:41:23WJ53LT4:1:2196:40431:13835,LH00995:41:23WJ53LT4:2:1430:38432:7095,LH00995:41:23WJ53LT4:3:2269:13159:17352,LH00995:41:23WJ53LT4:4:2340:48060:5386,LH00995:41:23WJ53LT4:4:2340:48068:5400,LH00995:41:23WJ53LT4:5:1457:7229:4447,LH00995:41:23WJ53LT4:5:2238:40617:6983,LH00995:41:23WJ53LT4:6:1192:17762:15124,LH00995:41:23WJ53LT4:6:1192:17771:15110,LH00995:41:23WJ53LT4:6:1192:17771:15138,LH00995:41:23WJ53LT4:6:1192:17787:15110,LH00995:41:23WJ53LT4:6:1192:17795:15124,LH00995:41:23WJ53LT4:6:1192:17803:15110,LH00995:41:23WJ53LT4:1:1197:2909:4027,LH00995:41:23WJ53LT4:1:1203:18216:1953,LH00995:41:23WJ53LT4:1:1203:18232:1953,LH00995:41:23WJ53LT4:1:1241:16242:2766,LH00995:41:23WJ53LT4:1:1376:16606:22509,LH00995:41:23WJ53LT4:1:1377:17390:4307,LH00995:41:23WJ53LT4:1:1473:6712:24793,LH00995:41:23WJ53LT4:1:2117:8152:15965,LH00995:41:23WJ53LT4:1:2140:35690:2906,LH00995:41:23WJ53LT4:1:2331:24121:6437,LH00995:41:23WJ53LT4:1:2390:11687:13961,LH00995:41:23WJ53LT4:1:2494:49564:23714,LH00995:41:23WJ53LT4:2:1302:3354:1154,LH00995:41:23WJ53LT4:2:1422:15805:25101,LH00995:41:23WJ53LT4:2:2161:42583:18151,LH00995:41:23WJ53LT4:2:2169:13863:21402,LH00995:41:23WJ53LT4:2:2169:13879:21402,LH00995:41:23WJ53LT4:2:2169:13887:21416,LH00995:41:23WJ53LT4:2:2169:13895:21402,LH00995:41:23WJ53LT4:2:2196:29307:16792,LH00995:41:23WJ53LT4:2:2196:29315:16778,LH00995:41:23WJ53LT4:2:2208:32899:3536,LH00995:41:23WJ53LT4:2:2262:43723:2359,LH00995:41:23WJ53LT4:2:2272:22633:14760,LH00995:41:23WJ53LT4:2:2294:50228:13513,LH00995:41:23WJ53LT4:2:2361:2230:18599,LH00995:41:23WJ53LT4:2:2378:50608:12574,LH00995:41:23WJ53LT4:2:2383:20198:28450,LH00995:41:23WJ53LT4:2:2391:27001:29445,LH00995:41:23WJ53LT4:3:1117:22981:21696,LH00995:41:23WJ53LT4:3:1150:17374:28520,LH00995:41:23WJ53LT4:3:1150:17390:28520,LH00995:41:23WJ53LT4:3:1169:19016:18978,LH00995:41:23WJ53LT4:3:1228:24234:15433,LH00995:41:23WJ53LT4:3:1267:49014:19034,LH00995:41:23WJ53LT4:3:1267:49022:19020,LH00995:41:23WJ53LT4:3:1337:9640:1813,LH00995:41:23WJ53LT4:3:1458:27527:9954,LH00995:41:23WJ53LT4:3:2158:35180:1462,LH00995:41:23WJ53LT4:3:2322:1316:16764,LH00995:41:23WJ53LT4:3:2377:16258:20925,LH00995:41:23WJ53LT4:3:2443:45131:27441,LH00995:41:23WJ53LT4:3:2451:24857:24527,LH00995:41:23WJ53LT4:3:2460:10053:27974,LH00995:41:23WJ53LT4:3:2460:10061:27960,LH00995:41:23WJ53LT4:4:1359:31192:20505,LH00995:41:23WJ53LT4:4:1379:30852:23055,LH00995:41:23WJ53LT4:4:1379:30860:23069,LH00995:41:23WJ53LT4:4:1379:30884:23083,LH00995:41:23WJ53LT4:4:2337:17528:1154,LH00995:41:23WJ53LT4:5:1190:18143:2191,LH00995:41:23WJ53LT4:5:1453:15602:19258,LH00995:41:23WJ53LT4:5:2285:27932:2471,LH00995:41:23WJ53LT4:5:2436:28190:10739,LH00995:41:23WJ53LT4:5:2455:1841:23588

RUNDC1

+/+

chr17:42981074

chr17:42981069

CDS/splice-site

CDS

duplication/ITD

515

low

in-frame

|RUN_domain(100%)

ENSG00000198863.7

ENST00000361677.5

downstream

upstream

duplicates(10)

CCTCACGTCCTAGGTTACGAAGGGCCCGGCGACCCCGCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCAcGGTTGCGGGGCGAGGACCAG|GgCttG___AGTGAGCAGGAAAAGCAAGAGCGTCTGGAAACCCAAAGGGAGAAGCAGAAAGAACTGATACTGCAGCTCAAGACCCAGCTAGATGACCTGGAAACGTTTGCCTATCAAGAGGGCAGTTA

PHVLGYEGPGDPASDEGDGLPGDRPrLRGEDQ|glSEQEKQERLETQREKQKELILQLKTQLDDLETFAYQEGS

LH00995:41:23WJ53LT4:1:1148:8969:15531,LH00995:41:23WJ53LT4:1:1173:6898:1154,LH00995:41:23WJ53LT4:1:1433:47437:17170,LH00995:41:23WJ53LT4:1:1491:45455:23294,LH00995:41:23WJ53LT4:1:2175:19510:23504,LH00995:41:23WJ53LT4:1:2327:18507:27651,LH00995:41:23WJ53LT4:1:2383:33781:11537,LH00995:41:23WJ53LT4:1:2410:4802:8763,LH00995:41:23WJ53LT4:1:2473:37583:24765,LH00995:41:23WJ53LT4:1:2480:4851:28296,LH00995:41:23WJ53LT4:2:1179:25521:27357,LH00995:41:23WJ53LT4:2:1218:6525:16736,LH00995:41:23WJ53LT4:2:1237:31920:19356,LH00995:41:23WJ53LT4:2:1362:42275:12182,LH00995:41:23WJ53LT4:2:1430:39792:2415,LH00995:41:23WJ53LT4:2:2256:1760:1308,LH00995:41:23WJ53LT4:2:2277:4171:27539,LH00995:41:23WJ53LT4:2:2293:49532:2359,LH00995:41:23WJ53LT4:2:2404:21023:23069,LH00995:41:23WJ53LT4:3:1107:25464:7894,LH00995:41:23WJ53LT4:3:1308:7165:22999,LH00995:41:23WJ53LT4:3:1348:13054:9015,LH00995:41:23WJ53LT4:3:1394:6218:20659,LH00995:41:23WJ53LT4:3:2122:20966:16049,LH00995:41:23WJ53LT4:3:2248:24340:26124,LH00995:41:23WJ53LT4:3:2317:11679:19440,LH00995:41:23WJ53LT4:3:2409:25221:1813,LH00995:41:23WJ53LT4:3:2452:13556:3018,LH00995:41:23WJ53LT4:4:1135:8192:27609,LH00995:41:23WJ53LT4:4:1312:50446:7390,LH00995:41:23WJ53LT4:4:1359:6631:10725,LH00995:41:23WJ53LT4:4:1470:7707:14101,LH00995:41:23WJ53LT4:4:2262:49653:25830,LH00995:41:23WJ53LT4:4:2340:20020:12644,LH00995:41:23WJ53LT4:4:2374:39913:2962,LH00995:41:23WJ53LT4:4:2488:32066:3774,LH00995:41:23WJ53LT4:5:1430:32066:16021,LH00995:41:23WJ53LT4:5:2288:39978:7838,LH00995:41:23WJ53LT4:5:2305:42631:7502,LH00995:41:23WJ53LT4:6:1118:44055:1196,LH00995:41:23WJ53LT4:6:1168:31928:6283

KRT17P3

FP236383.3

-/-

+/+

chr17:30571742

chr21:8397690

exon

intron

translocation

329

232

low

ENSG00000231870.4

ENSG00000280441.3

ENST00000420566.3

upstream

duplicates(20)

GGCCCCTCTCCTCtCCAGCCCTTCTCCTGTGTGCCTGCCTCCTGCCGCCGCCACCATGACCAC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

LH00995:41:23WJ53LT4:1:1111:12779:26334,LH00995:41:23WJ53LT4:1:1148:46215:7039,LH00995:41:23WJ53LT4:1:1196:17245:22355,LH00995:41:23WJ53LT4:1:1205:17237:17520,LH00995:41:23WJ53LT4:1:1273:45641:20869,LH00995:41:23WJ53LT4:1:1294:29210:16484,LH00995:41:23WJ53LT4:1:1412:9179:17885,LH00995:41:23WJ53LT4:1:1482:6323:17563,LH00995:41:23WJ53LT4:1:2168:49961:26839,LH00995:41:23WJ53LT4:1:2192:48634:7446,LH00995:41:23WJ53LT4:1:2308:16209:13583,LH00995:41:23WJ53LT4:1:2395:40083:28478,LH00995:41:23WJ53LT4:2:1338:42744:20925,LH00995:41:23WJ53LT4:2:1403:21209:6605,LH00995:41:23WJ53LT4:2:2330:30253:11930,LH00995:41:23WJ53LT4:2:2332:41668:25199,LH00995:41:23WJ53LT4:2:2337:16743:26727,LH00995:41:23WJ53LT4:2:2381:46757:14648,LH00995:41:23WJ53LT4:3:1121:27422:17338,LH00995:41:23WJ53LT4:3:2193:13345:13163,LH00995:41:23WJ53LT4:3:2420:31160:6717,LH00995:41:23WJ53LT4:4:1163:5603:15166,LH00995:41:23WJ53LT4:4:1326:24469:1799,LH00995:41:23WJ53LT4:4:2102:26856:25241,LH00995:41:23WJ53LT4:4:2135:14090:28240,LH00995:41:23WJ53LT4:4:2160:24979:9211,LH00995:41:23WJ53LT4:4:2361:10239:17591,LH00995:41:23WJ53LT4:4:2472:27341:23840,LH00995:41:23WJ53LT4:5:1122:49888:27133,LH00995:41:23WJ53LT4:5:1176:31362:9085,LH00995:41:23WJ53LT4:5:1233:22584:28688,LH00995:41:23WJ53LT4:5:1414:14891:23181,LH00995:41:23WJ53LT4:5:1420:42299:13513,LH00995:41:23WJ53LT4:5:1452:13070:21206,LH00995:41:23WJ53LT4:5:2234:12358:22719,LH00995:41:23WJ53LT4:5:2234:12375:22719,LH00995:41:23WJ53LT4:5:2366:21937:24401,LH00995:41:23WJ53LT4:5:2407:42372:5148,LH00995:41:23WJ53LT4:6:1175:11744:5316

KRT6A

FP236383.3

-/-

+/+

chr12:52493075

chr21:8399952

CDS

intron

translocation

65535

6421

low

out-of-frame

Keratin_type_II_head(15%)|

ENSG00000205420.11

ENSG00000280441.3

ENST00000330722.7

upstream

duplicates(5),mismatches(2)

CTCTCCTCAGCTCTCTCATCTCCTGGAACCATGGCCAGCACATCCACCACCATCAGGAGCCACAGCAGCAGCCGCCGGGGTTTCAGTGCCAACTCAGCCAGGCTCCCTGGGGTCAGCCGCTCTGGCTTCAGCAGCGTCTCCGTG|CCCCGCGCCCTCTCTCTCTCTCTCTCCCCC

MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSV|pralslsls

LH00995:41:23WJ53LT4:1:2144:41822:15573,LH00995:41:23WJ53LT4:1:2237:13758:1210,LH00995:41:23WJ53LT4:2:1132:18458:27623,LH00995:41:23WJ53LT4:2:2147:30901:2766,LH00995:41:23WJ53LT4:2:2166:4471:26320,LH00995:41:23WJ53LT4:2:2243:51449:3746,LH00995:41:23WJ53LT4:3:1224:6234:19258,LH00995:41:23WJ53LT4:3:1296:13054:13947,LH00995:41:23WJ53LT4:3:1346:24971:11327,LH00995:41:23WJ53LT4:3:1396:7601:20001,LH00995:41:23WJ53LT4:3:1454:13564:8917,LH00995:41:23WJ53LT4:4:1105:7432:19847,LH00995:41:23WJ53LT4:4:1305:19825:13709,LH00995:41:23WJ53LT4:4:2307:13378:22943,LH00995:41:23WJ53LT4:4:2309:44702:14592,LH00995:41:23WJ53LT4:4:2403:8168:10276,LH00995:41:23WJ53LT4:4:2454:1582:11061,LH00995:41:23WJ53LT4:5:1114:6453:19917,LH00995:41:23WJ53LT4:5:1401:23684:26194,LH00995:41:23WJ53LT4:5:1414:5992:18081,LH00995:41:23WJ53LT4:5:1457:29347:17086,LH00995:41:23WJ53LT4:5:2476:16428:12672,LH00995:41:23WJ53LT4:6:1240:50640:4951

AC092807.3

DDAH1

-/-

chr1:85496166

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

379

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(14)

CTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG___TTTCATCTGTATGGAAAAGGAGCTCTGGTAACTTTGGCCAAGACTTTTCAGTAGGAAATGCTTCAAAATACAAAGCAAGAGCTATTTTCAAGAAAGACCTTCTAAATTTATATTAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACG

LH00995:41:23WJ53LT4:1:1254:14268:1504,LH00995:41:23WJ53LT4:1:1254:14276:1490,LH00995:41:23WJ53LT4:2:1242:15643:19272,LH00995:41:23WJ53LT4:2:1242:15651:19258,LH00995:41:23WJ53LT4:2:2137:31249:15110,LH00995:41:23WJ53LT4:3:1485:2076:10430,LH00995:41:23WJ53LT4:3:2167:48974:18880,LH00995:41:23WJ53LT4:3:2167:48974:18908,LH00995:41:23WJ53LT4:3:2167:48982:18894,LH00995:41:23WJ53LT4:3:2392:1558:15026,LH00995:41:23WJ53LT4:4:2442:35900:4671,LH00995:41:23WJ53LT4:5:1257:18903:7376,LH00995:41:23WJ53LT4:2:1493:18021:13191,LH00995:41:23WJ53LT4:2:1493:18038:13191,LH00995:41:23WJ53LT4:2:2369:21532:18992,LH00995:41:23WJ53LT4:3:1219:23231:10668,LH00995:41:23WJ53LT4:5:1389:1599:7390,LH00995:41:23WJ53LT4:5:1389:1615:7390,LH00995:41:23WJ53LT4:1:2188:46700:2163,LH00995:41:23WJ53LT4:1:2188:46709:2149,LH00995:41:23WJ53LT4:1:2188:46709:2177,LH00995:41:23WJ53LT4:2:1336:17463:28058

AC092807.3

DDAH1

-/-

chr1:85577984

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

379

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(4)

TAGTAATCGACGACATTAGGCAAGAGAAACAGCGGCTCCTCAAGTCCTGCCCAAAGACCGTCCAGAAACCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTTATGG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAACGAGGTGCTGAAATCTTGGCTGATACTTTTAAG___GACTATGCAGTCTCC

LH00995:41:23WJ53LT4:1:1310:50495:6185,LH00995:41:23WJ53LT4:1:1429:4009:11313,LH00995:41:23WJ53LT4:1:1245:24582:15867,LH00995:41:23WJ53LT4:3:2312:1453:18011,LH00995:41:23WJ53LT4:1:2188:46700:2163,LH00995:41:23WJ53LT4:1:2188:46709:2149,LH00995:41:23WJ53LT4:1:2188:46709:2177,LH00995:41:23WJ53LT4:2:1336:17463:28058

AC092807.3

DDAH1

-/-

chr1:85575832

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

379

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000498304.5

ENST00000284031.13

upstream

downstream

duplicates(4)

CGACGACATTAGGCAAGAGAAACAGCGGCTCCTCAAGTCCTGCCCAAAGACCGTCCAGAAACCCCAGCCTCCCGTCGCCTTCTCGCCGCCTCCGCTGGGAGCCGCAGATCAGTCCAAGTTGACGGACAGGAGGCGAAATGTGCAAATGTTT...TCCTGAGTAACACCATTTTCTATCTAAATGAAGAAATGGAGGCATGGAAG|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAAC

LH00995:41:23WJ53LT4:2:1146:32672:19230,LH00995:41:23WJ53LT4:6:1152:14688:21682,LH00995:41:23WJ53LT4:1:2188:46700:2163,LH00995:41:23WJ53LT4:1:2188:46709:2149,LH00995:41:23WJ53LT4:1:2188:46709:2177,LH00995:41:23WJ53LT4:2:1336:17463:28058

AC092807.3

DDAH1

-/-

chr1:85488291

chr1:85358847

exon/splice-site

CDS/splice-site

deletion/read-through

379

low

|Arginine_deiminase(65%)

ENSG00000282057.1

ENSG00000153904.21

ENST00000488557.6

ENST00000284031.13

upstream

downstream

duplicates(4)

ATCTGAAAACCAGGAAGAGAGCCCTCACCAGAATCTGACCATGtTGGTGCCCTGATCTTGGACTTTCAGCCTCCAGAACT|GTTGACATGATGAAAGAAGCATTAGAAAAACTTCAGCTCAATATAGTAGAGATGAAAGATGAAAATGCAACTTTAGATGGCGGAGATGTTTTATTCACAG___GCAGAGAATTTTTTGTGGGCCTTTCCAAAAGGACAAATCAAC

LH00995:41:23WJ53LT4:4:2231:38392:14956,LH00995:41:23WJ53LT4:4:2464:9575:20645,LH00995:41:23WJ53LT4:1:2188:46700:2163,LH00995:41:23WJ53LT4:1:2188:46709:2149,LH00995:41:23WJ53LT4:1:2188:46709:2177,LH00995:41:23WJ53LT4:2:1336:17463:28058

RAD51D

RFFL

-/-

chr17:35101201

chr17:35026561

CDS/splice-site

5'UTR/splice-site

deletion/read-through

710

1103

low

out-of-frame

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

ENSG00000185379.21

ENSG00000092871.17

ENST00000345365.11

ENST00000315249.11

upstream

downstream

duplicates(16)

GGCCCAGCAG___GTGACTGGTTCTTCAGGAACTGTGAAGGTGGTGGTTGTGGACTCGGTCACTGCGGTGGTTTCCCCACTTCTGGGAGGTCAGCAGAGGGAAG___GCTTGGCCTTGATGATGCAGCTGGCCCGAGAGCTGAAGACCCTGGCCCGGGACCTTGGCATGGCAGTGGTG___GTGACCAACCACATAACTCGAGACAGGGACAGCGGGAGGCTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATTCTCCTGGACACCATCGAGGGAGCAGGAGCATCAGGCGGCCGGCGCATGGCGTGTCTGGCCAAATCTTCCCGACAG|ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCT

AQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQ|ilscgqpaatgsawmdslrrshhprepgcrpiptlgta

LH00995:41:23WJ53LT4:1:1391:13766:15068,LH00995:41:23WJ53LT4:2:1434:10101:12336,LH00995:41:23WJ53LT4:4:1337:16856:16329,LH00995:41:23WJ53LT4:4:1457:22503:15825,LH00995:41:23WJ53LT4:1:1151:8410:9015,LH00995:41:23WJ53LT4:1:1151:8419:9029,LH00995:41:23WJ53LT4:1:1151:8427:9043,LH00995:41:23WJ53LT4:1:1151:8435:9029,LH00995:41:23WJ53LT4:1:2483:16015:3802,LH00995:41:23WJ53LT4:2:2122:40245:19819,LH00995:41:23WJ53LT4:2:2248:22536:20954,LH00995:41:23WJ53LT4:3:1251:18216:21962,LH00995:41:23WJ53LT4:3:1251:18232:21962,LH00995:41:23WJ53LT4:4:1136:7618:1336,LH00995:41:23WJ53LT4:4:1151:50503:18669,LH00995:41:23WJ53LT4:5:2125:36410:26404,LH00995:41:23WJ53LT4:5:2125:36426:26404,LH00995:41:23WJ53LT4:5:2125:36442:26404,LH00995:41:23WJ53LT4:5:2126:36928:2892,LH00995:41:23WJ53LT4:5:2126:36936:2906,LH00995:41:23WJ53LT4:5:2126:36944:2920,LH00995:41:23WJ53LT4:5:2186:31418:1392,LH00995:41:23WJ53LT4:5:2221:38400:21892,LH00995:41:23WJ53LT4:5:2221:38408:21906

INPP5F

+/+

chr10:119792213

chr10:119751076

CDS/splice-site

duplication/non-canonical_splicing

462

714

low

out-of-frame

SacI_homology_domain(47%)|Inositol_phosphatase_(100%),SacI_homology_domain(100%)

ENSG00000198825.15

ENST00000650623.2

downstream

upstream

duplicates(8)

CGCATATTAAATCCAATGTGTCTGCTCCTAATAAAAAGAAA___GTTAAGGAAAGTAAAGAGAAGGAGAAGTTGGAGAGGAGATTACTTGAAGAGTTGCTGAAGATGTTCATGGACTCAGAATCCTTTTATTATAGCTTGACCTATGACCTGAC...GGCAGAGCACTGGGGAGAGGGACGGTCGGCCCCTCTGGCAGAAG___...AGGTTGATGACCGATTTTTTTGGAATAAATACATGATACAAGATCTTACTGAGATTGGT|CTACTGATCTACTTCTTGCCTGGAATCCCATTTGTTTGGGGTTGGTAGAAGGTGTTATTGGGAAAATTCAACTTCATTCAG___ATCTTCCATGGTGGCTTATTCTAATTCGGCAGAAAGCATTGGTGGGCAAACTCCC

VDDRFFWNKYMIQDLTEIG|lliyflpgipfvwgw*

LH00995:41:23WJ53LT4:1:1166:20918:19917,LH00995:41:23WJ53LT4:1:2247:18620:9491,LH00995:41:23WJ53LT4:1:2280:12803:14858,LH00995:41:23WJ53LT4:2:1143:19469:21612,LH00995:41:23WJ53LT4:3:1414:37729:12322,LH00995:41:23WJ53LT4:3:1414:37737:12308,LH00995:41:23WJ53LT4:4:1182:14680:3929,LH00995:41:23WJ53LT4:4:1233:45495:23392,LH00995:41:23WJ53LT4:4:1233:45503:23406,LH00995:41:23WJ53LT4:4:1250:12714:25914,LH00995:41:23WJ53LT4:4:1250:12731:25914,LH00995:41:23WJ53LT4:4:1373:23078:19931,LH00995:41:23WJ53LT4:4:1373:23086:19917,LH00995:41:23WJ53LT4:2:2390:36709:4643,LH00995:41:23WJ53LT4:2:2390:36717:4629,LH00995:41:23WJ53LT4:3:2303:22228:16161

MUC16

-/-

chr19:8894518

chr19:8908664

CDS/splice-site

duplication/non-canonical_splicing

2186

4377

low

in-frame

SEA_domain(51%)|SEA_domain(80%)

ENSG00000181143.15

ENST00000397910.8

upstream

downstream

duplicates(19),mismatches(13)

GCTATACTGGGAGCTGAGCCAGCTGACCaACAGCATCACaGAGCTGGGACCCTACACCCTGGATAGGGACAGTCTCTATGTCAATG___GcTTCAaCCcttGGAGCTCTGTGCCCACCACCAGCA|CTCCTGGGACCTCCACAGTGGACCTTGGAACCTCAGGGACTCCATTCTCCCTCCCAAGCCCCGCAA___CTGCTGGCCCTCTCCTGGTGCTGTTCACCCTCAACTTCACCATCACCAACCTGAAGTATGAGGAGGACATGCATCGCCCTGGCTCCAGGAAGTTCAA

LYWELSQLTnSITELGPYTLDRDSLYVNGFnpwSSVPTTS|tPGTSTVDLGTSGTPFSLPSPATAGPLLVLFTLNFTITNLKYEEDMHRPGSRKF

LH00995:41:23WJ53LT4:1:1240:36580:13415,LH00995:41:23WJ53LT4:1:2395:18086:20449,LH00995:41:23WJ53LT4:2:1262:3168:11369,LH00995:41:23WJ53LT4:2:1361:49936:16484,LH00995:41:23WJ53LT4:2:1405:31904:15096,LH00995:41:23WJ53LT4:3:2181:6954:19524,LH00995:41:23WJ53LT4:4:2209:4050:28814,LH00995:41:23WJ53LT4:5:1193:45463:14087,LH00995:41:23WJ53LT4:6:1167:27956:9295,LH00995:41:23WJ53LT4:6:1167:27964:9281,LH00995:41:23WJ53LT4:1:1234:46927:28730,LH00995:41:23WJ53LT4:1:1337:15069:8833,LH00995:41:23WJ53LT4:1:2164:25141:12266,LH00995:41:23WJ53LT4:1:2192:45827:13093,LH00995:41:23WJ53LT4:1:2331:43909:24036,LH00995:41:23WJ53LT4:2:1151:1987:29501,LH00995:41:23WJ53LT4:2:2143:12739:3284,LH00995:41:23WJ53LT4:2:2281:41134:3760,LH00995:41:23WJ53LT4:2:2296:19736:8903,LH00995:41:23WJ53LT4:3:1215:45811:24050,LH00995:41:23WJ53LT4:3:1233:33942:3746,LH00995:41:23WJ53LT4:3:1439:43456:29277,LH00995:41:23WJ53LT4:3:2325:38028:24695,LH00995:41:23WJ53LT4:3:2485:28401:16904,LH00995:41:23WJ53LT4:4:1209:49799:18459,LH00995:41:23WJ53LT4:4:1223:9519:1182,LH00995:41:23WJ53LT4:4:1237:25691:5764,LH00995:41:23WJ53LT4:4:1387:21565:8651,LH00995:41:23WJ53LT4:4:1387:21573:8637,LH00995:41:23WJ53LT4:4:1404:25763:23714,LH00995:41:23WJ53LT4:4:2343:19947:13107,LH00995:41:23WJ53LT4:4:2448:36944:12840,LH00995:41:23WJ53LT4:5:1244:1146:28156,LH00995:41:23WJ53LT4:5:1319:19542:2177,LH00995:41:23WJ53LT4:5:1349:6121:4769,LH00995:41:23WJ53LT4:5:1416:36378:21164,LH00995:41:23WJ53LT4:5:1449:6914:15447,LH00995:41:23WJ53LT4:6:1139:47671:7292,LH00995:41:23WJ53LT4:6:1145:44662:3228,LH00995:41:23WJ53LT4:6:1220:44128:14045

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

356

979

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(4)

GCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCACGATATCAACTATTTGGCTTTGTCAG___GTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTATGCCCCGCTGAATCTCCTGGCTGACTTTGCTGGTGGTGGCCTTATGTGTGCACTGGGCATTATAATGGCTCTTTTTGACCGCACACGCAC

LAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvswpryqlfgfvrcslknwqkw*

LH00995:41:23WJ53LT4:1:1336:34525:28660,LH00995:41:23WJ53LT4:2:1210:27454:11089,LH00995:41:23WJ53LT4:3:2305:7423:9071,LH00995:41:23WJ53LT4:4:2452:48780:20113,LH00995:41:23WJ53LT4:5:1196:37809:12742,LH00995:41:23WJ53LT4:5:1201:29485:20519,LH00995:41:23WJ53LT4:5:2340:40868:3887,LH00995:41:23WJ53LT4:5:2479:31297:5554,LH00995:41:23WJ53LT4:1:1428:4187:17226,LH00995:41:23WJ53LT4:2:2370:34889:1911,LH00995:41:23WJ53LT4:3:2252:45722:19804

AL512590.2

CCDC180

+/+

chr9:97294991

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

184

low

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

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

duplicates(7)

CCTTTCCAGGCTGCTCATCAGTTGCCTCCTCGGCATGTGGCTGATTGCCCGCATCGACAGGACCATCATGCAGAGTGGCTATGAGGGAGCAGACATGG___GGTTCAGTGCATGGATTGGGATGCTCTACATGGACCATTATCACATCAACCCT...GAGAAGAAGCTGCAGCAGAGCACCAAATACTGGTGCCTAAATCAATCGGCAG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGCGGCCACCAGGAAGCGGGCTGCAGAGCGTTCTGTGACCCTGAAGAGTGGCAGG

LH00995:41:23WJ53LT4:1:2395:46247:25451,LH00995:41:23WJ53LT4:2:2286:13823:22060,LH00995:41:23WJ53LT4:3:1253:45738:1617,LH00995:41:23WJ53LT4:3:2249:30140:13751,LH00995:41:23WJ53LT4:5:1175:3888:19622,LH00995:41:23WJ53LT4:5:1204:48602:21066,LH00995:41:23WJ53LT4:5:1204:48618:21066,LH00995:41:23WJ53LT4:4:1395:34703:9435,LH00995:41:23WJ53LT4:4:1395:34711:9449,LH00995:41:23WJ53LT4:4:1395:34719:9435,LH00995:41:23WJ53LT4:4:1395:34735:9435,LH00995:41:23WJ53LT4:4:2495:10659:22831,LH00995:41:23WJ53LT4:4:2495:10668:22817

AL512590.2

CCDC180

+/+

chr9:97294110

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

184

low

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

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

duplicates(2)

CTGCCTTTCCAGGCTGCTCATCAGTTGCCTCCTCGGCATGTGGCTGATTGCCCGCATCGACAGGACCATCATGCAGAGTGGCTATGAGGGAGCAGACATGG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGG...GCTGGTCCACTCCCTGGCGGCCACCAGaAAGCGGGCTGCAGAGCGTTCTGTGACCCTGAAGAGTGGCAGGATACCCATGATGAAGAAGGTGGAGACTCCTGAAGGGGAGGTGATGTCTCCCCGACAGCAGAAGTGGATGCACAGCCTCCCCAACGACTGGATCATGGAAAACCCTGTTCTCCACAG___GGAAAAGGAAAGAGCCAAGAGGGAAAAAGCCCGAGAGAGTGAGAACgCC

LH00995:41:23WJ53LT4:1:2365:13815:24064,LH00995:41:23WJ53LT4:1:2365:13823:24078,LH00995:41:23WJ53LT4:1:2365:13831:24064,LH00995:41:23WJ53LT4:2:2141:25149:7320

AL512590.2

CCDC180

+/+

chr9:97290665

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

184

low

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

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

duplicates(1)

CTTCCTTTGAAGTTCCATAACCCGGCCTCGTCGGAGAGCATG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCC...CCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCACTCCCTGGCGGCCACCAGaAAGCGGGCTGCAGAGCGTTC

LH00995:41:23WJ53LT4:2:2373:32842:28828,LH00995:41:23WJ53LT4:2:2373:32858:28828

AL512590.2

CCDC180

+/+

chr9:97290902

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

184

low

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

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000472746.2

downstream

upstream

duplicates(1)

CATAACCCGGCCTCGTCGGAGAGCATG___GTGGCCATTGCAAGGTACTCTGGCTGGCAAATAGCCTATATTCTGTGGG|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAGG...CTgAGGAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGtGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAG

LH00995:41:23WJ53LT4:3:2269:51231:6927,LH00995:41:23WJ53LT4:5:1489:31839:13191

AL512590.2

CCDC180

+/+

chr9:97291487

chr9:97307736

exon/splice-site

5'UTR/splice-site

deletion/read-through

184

low

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

ENSG00000254633.2

ENSG00000197816.16

ENST00000531758.2

ENST00000460482.6

downstream

upstream

CAGGGCCTGGAAATGCTGCAAGGGCTGGGCATTGGGAT|AGTCCCTTCGGATTTGCGCCATGCGCGGCGGGGAGAACCGGCCTCCTGCTCGAGTTCAGAGCTCATCTGAG___GAATTGGAATTGAGACACCAAAGCCTAGACGCGTTTCCTGGACGACGGCTTCCCGGCAGGGGCATCCAGCCAGCGGCCAAGATGTCGTCAGTGGGGAAGGTGACCCAGGTTCCGAATGGGAAAGCCTACCAGCAGATCTTCCAGGCTGAG___GTGCAGCTGGTCCAC

LH00995:41:23WJ53LT4:4:1244:4123:8987

ZAN

EPO

+/-

chr7:100741978

chr7:100723111

intron

CDS

deletion/read-through

111

low

ENSG00000146839.19

ENSG00000130427.3

upstream

downstream

duplicates(4),mismatches(1)

CGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG|GCCTCCCCTGTGTACAGCTTCAGCTTTCCCCGGAGGAAATTGGAGTAGACTCGGAAGAGTTTGCGGAAAGTGTCAGCAGTGATTGTTCGGAGTGGAGCAGCTGAGGCCGCATCTGGAGGGGAGATGGCTTCCTTCTGCCAAGGAGAAAACA

LH00995:41:23WJ53LT4:1:1308:46644:16470,LH00995:41:23WJ53LT4:1:1308:46652:16484,LH00995:41:23WJ53LT4:1:2133:29655:2766,LH00995:41:23WJ53LT4:1:2133:29663:2752,LH00995:41:23WJ53LT4:1:2302:20278:28058,LH00995:41:23WJ53LT4:2:1449:7820:17128,LH00995:41:23WJ53LT4:3:2257:52088:28002,LH00995:41:23WJ53LT4:3:2446:28142:15475,LH00995:41:23WJ53LT4:5:1249:23523:6465,LH00995:41:23WJ53LT4:1:1356:22552:8539,LH00995:41:23WJ53LT4:1:2192:48650:11565

PEDS1

UBE2V1

-/-

chr20:50127975

chr20:50096820

CDS/splice-site

deletion/read-through

2387

3194

low

in-frame

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

ENSG00000240849.11

ENSG00000244687.12

ENST00000371652.9

ENST00000340309.7

upstream

downstream

duplicates(3)

CTTCGGCACCTTCACCAACCAGATCCACAgGTGGTCGCACACGTACTTTGGGCTGCCACGCTGGGTCACCCTCCTGCAGGACTGGCATGTCATCCTGCCACGTAAACACCATCGCATCCACCACGTCTCACCCCACGAGACCTACTTCTGCATCACCACAG|GAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGGGGTCTAGAAGATGACGAAGACATGACACTTACAAGATGGACAGGGATGATAATTGGGCCTCCAAGA___ACAATTTATGAAAACCGAA

FGTFTNQIHrWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITT|gVKVPRNFRLLEELEEGQKGVGDGTVSWGLEDDEDMTLTRWTGMIIGPPRTIYENR

LH00995:41:23WJ53LT4:4:1181:7423:1645,LH00995:41:23WJ53LT4:5:2344:36313:10767,LH00995:41:23WJ53LT4:6:1236:2586:14312,LH00995:41:23WJ53LT4:1:2115:23523:7558,LH00995:41:23WJ53LT4:4:2114:11800:6535,LH00995:41:23WJ53LT4:4:2182:32227:5988,LH00995:41:23WJ53LT4:4:2182:32244:5988,LH00995:41:23WJ53LT4:5:2414:1089:8973,LH00995:41:23WJ53LT4:1:1294:1364:28786

ADGB

+/+

chr6:146788610

chr6:146782020

CDS/splice-site

duplication/non-canonical_splicing

105

low

in-frame

Calpain_family_cysteine_protease(100%)|

ENSG00000118492.18

ENST00000397944.8

downstream

upstream

duplicates(3)

GCAAAATCCACGAGTAGCGAAAGTGGAGGAGTGTCTTCACCAGGGAAAGAAGAGCGCGAGCAGAGCACACGGAAGGAAAACATTC|CTTATGGTGAAAGACACGAGGAGTTAATTAACTTAGGAAGCCCAGACTCCCACACTATTAGTGAGGGACAAAAATCTTCAGTAACTTCCAAAACAACAAGGAAAGGCAAAGAAAAGTCTTCTGAGAAAGAAAAGACAGCCAAAGAAAAACAAGCACCTCGCTTTGAGCCTCAG___ATATCCACTGTTCACCCTCAACAAGAAGACCCAAATAAACCCTACTGGATTTTGAGGTTGGTCA

AKSTSSESGGVSSPGKEEREQSTRKENI|pYGERHEELINLGSPDSHTISEGQKSSVTSKTTRKGKEKSSEKEKTAKEKQAPRFEPQISTVHPQQEDPNKPYWILRLV

LH00995:41:23WJ53LT4:1:2214:42817:6479,LH00995:41:23WJ53LT4:3:1206:44791:15447,LH00995:41:23WJ53LT4:3:2480:39921:26376,LH00995:41:23WJ53LT4:4:1207:35658:19020,LH00995:41:23WJ53LT4:4:1207:35666:19006,LH00995:41:23WJ53LT4:4:1328:32017:9968,LH00995:41:23WJ53LT4:4:1328:32025:9954,LH00995:41:23WJ53LT4:5:2117:49297:26026,LH00995:41:23WJ53LT4:1:1363:16565:26642

SPAG6

+/+

chr10:22391920

chr10:22364853

CDS/splice-site

duplication/non-canonical_splicing

1402

2286

low

out-of-frame

Armadillo/beta-catenin-like_repeat(100%)|Armadillo/beta-catenin-like_repeat(100%)

ENSG00000077327.16

ENST00000376603.6

downstream

upstream

duplicates(3)

TGGAAGACACACTCCTGAACACGCACGGGCTGTTGCAGTCACAAATACTTTGCCAGTTCTGCTTTCTTTGTACATGTCAACAGAAAGTTCTGAGGATCTCCAAGTAAAA|GTGTAATGTCTTTGCTGAGAACTCTTCTTCTGGACGTGGTCCCAACAATTCAACAGACTGCTGCTTTGGCTCTTGGGAGACTGGCCAATTATAATGATGACCTAGCAGAAGCTGTTGTGAAGTGCGACATTCTTCCACAGCTTGTTTATTCATTGGCAGAACAGAAT___CGCTTCTACAAGAAAG

GRHTPEHARAVAVTNTLPVLLSLYMSTESSEDLQVK|v*

LH00995:41:23WJ53LT4:2:2158:41458:22901,LH00995:41:23WJ53LT4:2:2436:4333:26699,LH00995:41:23WJ53LT4:1:1289:32600:7418,LH00995:41:23WJ53LT4:1:2118:16428:20603,LH00995:41:23WJ53LT4:1:2304:37089:28926,LH00995:41:23WJ53LT4:2:2380:45827:28226,LH00995:41:23WJ53LT4:2:2433:2650:24989,LH00995:41:23WJ53LT4:3:2333:21443:25984,LH00995:41:23WJ53LT4:5:1264:36151:20911

PCDHA3

PCDHAC1

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

667

low

in-frame

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

ENSG00000255408.4

ENSG00000248383.5

ENST00000532566.3

ENST00000253807.3

downstream

upstream

duplicates(14)

CCGGGATAGAGAGGAGAAACAGGATGTGGACGTTGATCTCTCAGCCAAA|CCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAG___CTCTGTGCACCTAGAGGAGGCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGT...AGTGTCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGACAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCT

RDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

LH00995:41:23WJ53LT4:1:1237:43206:3985,LH00995:41:23WJ53LT4:1:1237:43214:3971,LH00995:41:23WJ53LT4:1:1295:44193:3228,LH00995:41:23WJ53LT4:1:2108:35399:23588,LH00995:41:23WJ53LT4:2:1251:49047:13737,LH00995:41:23WJ53LT4:3:1188:11549:19468,LH00995:41:23WJ53LT4:4:1125:27964:23406,LH00995:41:23WJ53LT4:4:1258:28983:20911,LH00995:41:23WJ53LT4:4:2139:15457:15054,LH00995:41:23WJ53LT4:4:2265:13459:27203,LH00995:41:23WJ53LT4:4:2489:42178:15096,LH00995:41:23WJ53LT4:5:1168:35973:28310,LH00995:41:23WJ53LT4:5:1189:38060:28030,LH00995:41:23WJ53LT4:5:1336:15975:4517,LH00995:41:23WJ53LT4:5:1336:15983:4503,LH00995:41:23WJ53LT4:5:1336:15991:4489,LH00995:41:23WJ53LT4:5:2115:9592:16357,LH00995:41:23WJ53LT4:5:2154:41733:23322,LH00995:41:23WJ53LT4:5:2250:4988:24022

PCDHA3

PCDHAC2

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

667

low

in-frame

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

ENSG00000255408.4

ENSG00000243232.6

ENST00000532566.3

ENST00000289269.7

downstream

upstream

duplicates(14)

RDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

PCDHA3

PCDHA13

+/+

chr5:140803591

chr5:140978949

CDS

CDS/splice-site

deletion/read-through

667

low

in-frame

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

ENSG00000255408.4

ENSG00000239389.8

ENST00000532566.3

ENST00000289272.3

downstream

upstream

duplicates(14)

RDREEKQDVDVDLSAK|PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS

TRIM59

IFT80

-/-

chr3:160438232

chr3:160384646

CDS/splice-site

5'UTR/splice-site

deletion/read-through

278

404

low

out-of-frame

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

ENSG00000213186.8

ENSG00000068885.15

ENST00000543469.1

ENST00000496589.5

upstream

downstream

duplicates(2)

CTTGAAACAAAGACCACTTCCTGAGGTTCAACCCGTTGAAATTTATCCTCGAGTAAGCAAAATATTGAAAGAAGAATGGAGCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|TAAATACAATCAAGTGGCATCTTAAATTTTTGCTGGAAGTGGAGTCATGAGACTAAAGATATCTCTTTTAAAAGAACCAAAGCATATCCTTTTAATGCTTATAAATCTTATTGGATTTTCTTAATTATAGTATTGTTAAAAGTTTCTCTATTTTATATCCTAGTTGAAGAATAGATTTTTTT

LKQRPLPEVQPVEIYPRVSKILKEEWSRTEIGQIKNVLIPKMKISPKRMSCSWP|vntikwhlkflleves*

LH00995:41:23WJ53LT4:4:2391:30674:4559,LH00995:41:23WJ53LT4:1:2126:23701:17002,LH00995:41:23WJ53LT4:1:2451:1405:22103,LH00995:41:23WJ53LT4:2:1157:8556:4307,LH00995:41:23WJ53LT4:4:1358:20076:27175,LH00995:41:23WJ53LT4:4:1453:10053:8244,LH00995:41:23WJ53LT4:4:1495:50592:18431

TRIM59

IFT80

-/-

chr3:160438232

chr3:160391643

CDS/splice-site

5'UTR/splice-site

deletion/read-through

278

low

out-of-frame

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

ENSG00000213186.8

ENSG00000068885.15

ENST00000543469.1

ENST00000487943.5

upstream

downstream

duplicates(1)

CTCGAGTAAGCAAAATATTGAAAGAAGAATGGAGCAGAACAGAAATTGGACAAATTAAGAACGTTCTCATTCCCAAAATGAAAATTTCTCCAAAAAGGATGTCATGTTCCTGGCCTG|GCTGGAGTGCAGTGGTGTGATCTCGGTTTACTGCAACCTCCACCTCCTGAGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG___TAAATACAATCAAGTGGCATCTTAAATTTTTGCTGGAAGTGGAGTCATGAGA

RVSKILKEEWSRTEIGQIKNVLIPKMKISPKRMSCSWP|gwsavv*

LH00995:41:23WJ53LT4:4:1179:46514:19973,LH00995:41:23WJ53LT4:2:2267:26103:5806,LH00995:41:23WJ53LT4:6:1132:35609:15629

RNF103

CHMP3

-/-

chr2:86620330

chr2:86542312

CDS/splice-site

deletion/read-through

1293

2643

low

in-frame

|Snf7(100%)

ENSG00000239305.7

ENSG00000115561.16

ENST00000237455.5

ENST00000263856.9

upstream

downstream

duplicates(2)

TTGATGGAGGGTGAGCTCTATTCTGCTCTCAAGGAAGAAGAAGCATCCGAATCGGTTTCTAGTACCAATTTCAGTGGTGAAATGCACTTCTATGAGCTTGTGGAAGACACAAAAGATGGCATCTGGCTGGTTCAG|GTCAATGAGTGGTCATTGAAGATAAGAAAGGAAATGAGAGTTGTTGACAGGCAAATAAGGG___ATATCCAAAGAGAAGAAGAAAAAGTGAAACGATCTGTGAAAGATGCTGCCAAGAAGGGCCAGAAGGATGTCT...TAGTTCTGGCCAAGGAGATGATCAGGTCAAGGAAGGCTGTGAGCAAGCTGTATGCATCCAAAGCACACATGAACTCAGTGCTCATGGGGATGAAGAACCAGCTCG___CGGTCTTGCGAGTGGCTGGTTCCCTGCAGAAGAGCACAGAAGTGAT

LMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQ|VNEWSLKIRKEMRVVDRQIRDIQREEEKVKRSVKDAAKKGQKDV

LH00995:41:23WJ53LT4:1:1170:16322:14480,LH00995:41:23WJ53LT4:2:1408:6525:18277,LH00995:41:23WJ53LT4:3:2478:27729:1589,LH00995:41:23WJ53LT4:4:2431:10465:9155,LH00995:41:23WJ53LT4:3:2277:22754:17745,LH00995:41:23WJ53LT4:5:1187:40131:28450,LH00995:41:23WJ53LT4:6:1220:27381:17689

DNAAF4

CCPG1

-/-

chr15:55432497

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

147

2786

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000321149.7

ENST00000310958.10

upstream

downstream

duplicates(8)

ATGCTAATGCAAGAATGAAGGCACATGTACGACGTGGAACAGCATTCTGTCAACTAGAATTGTATGTAGAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGTTCATCTTTAGAGCAAGAGGAGCTTCAAGCATTGCAGATAGAGCAAGGAG___AAAGCAGCCAAAATGGCACAGTGCTTATGGAAGAAACTGCTTATCCAGC

ANARMKAHVRRGTAFCQLELYVE|dlkdv*

LH00995:41:23WJ53LT4:1:1487:7440:25437,LH00995:41:23WJ53LT4:2:1409:14656:10837,LH00995:41:23WJ53LT4:2:2230:2230:13051,LH00995:41:23WJ53LT4:3:2278:41507:29039,LH00995:41:23WJ53LT4:3:2473:10441:10318,LH00995:41:23WJ53LT4:4:1183:13936:2583,LH00995:41:23WJ53LT4:4:1183:13944:2597,LH00995:41:23WJ53LT4:5:1372:4438:7151,LH00995:41:23WJ53LT4:5:2329:46684:13961,LH00995:41:23WJ53LT4:5:2329:46700:13961,LH00995:41:23WJ53LT4:5:2329:46709:13947,LH00995:41:23WJ53LT4:2:1448:42081:17675,LH00995:41:23WJ53LT4:2:1448:42089:17661

DNAAF4

CCPG1

-/-

chr15:55434905

chr15:55389433

CDS/splice-site

5'UTR/splice-site

deletion/read-through

183

2786

low

out-of-frame

CS_domain(100%)|

ENSG00000256061.7

ENSG00000260916.8

ENST00000448430.6

ENST00000310958.10

upstream

downstream

duplicates(1)

GAGGCACGAAGAGCAATGAATAgTGACATAGCTGAACTTTGCGATTTAAAAGAAGAAGAAAAGAACCCAGAATGGTTaAAGGATAAAaGAAA___CAAATTGTTTGCAACGGAAAACTATTTGGCAGCTATCAATGCATATAATTTAGCCATAAGACTAAATAATAAGATGCCACTATTGTATTTGAACCGGGCTGCTTGCCACCTAAAACTAAAAAACTTACACAAGGCTATTGAAGATTCTTCTAAG|ACCTGAAAGATGTCTGAAAATTCCAGTGACAGTGATTCATCTTGTGGTTGGACTGTCATCAGTCATGAG___GGGTCAGATATAGAAATGTTGAATTCTGTGACCCCCACTGACAGCTGTGAGCCCGCCCCAGAATGTTCATCTTTAGAGCAAGAGGAGCTTCAAGCATTGCAGATAGAGCAAGGAG___AAAGCAGCCAAAATGGC

EARRAMNsDIAELCDLKEEEKNPEWLKDKrNKLFATENYLAAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSK|t*

LH00995:41:23WJ53LT4:4:1139:17787:2443,LH00995:41:23WJ53LT4:2:1448:42081:17675,LH00995:41:23WJ53LT4:2:1448:42089:17661

PCDHB14

PCDHB15

+/+

chr5:141223541

chr5:141245484

CDS/splice-site

5'UTR

deletion/read-through

209

101

low

out-of-frame

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

ENSG00000120327.7

ENSG00000113248.6

ENST00000239449.7

ENST00000231173.6

downstream

upstream

duplicates(3)

GGAGCTTCGCCTACAGAGCTGCTGGAGGATACACTCTCCAGGGGGTTCCTGTTAAAAACCAGAGCTTCAGCTTCCAAAATTACGGCTGAGCTTCAGTTTTTCCACAAGAGATTGCCTAAAGGAACCATGGAGATCAGAGGGGCACTCGATCTGCGAAAAAGG|TTATCAACGCACAGATCGATCACTGCCTCTGTCCCATCGCTCCCTGAAGTAGCTCTGACTCCGGTTCCTTGAAAGGGGCGTGTACAGAAGTAAAGATGGAG...ACAAAGGCAAGTCCTGATTCTCCTTCTTTTACTGGAAGTGACTCTGGCAGGCTGGGAACCCCGTCGCTATTCTGTGATGGAGGAAACAGAGAGAGGTTCTTTTGTAGCCAACCTGGCCAATGACCTAGGGCTGGGAGTGGGGGAGCTAGCC

MEIRGALDLRKR|lsthrsitasvpslpevaltpvp*

LH00995:41:23WJ53LT4:1:2202:13022:12098,LH00995:41:23WJ53LT4:3:2221:2092:19398,LH00995:41:23WJ53LT4:4:2186:31693:5344,LH00995:41:23WJ53LT4:1:1482:37753:23742,LH00995:41:23WJ53LT4:1:1482:37761:23756,LH00995:41:23WJ53LT4:1:1482:37777:23756,LH00995:41:23WJ53LT4:1:1482:37785:23770

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

135

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),mismappers(1)

CCCAGCCTGG___GTAATATAGCTGCTGCTGGAAGTGACGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATGGACATCATCGGCCTGTCCCTCACTCTTGGCACAATGGAGAGAGGTTTCACCAATGGCAAGACAACCGTGGGAGCCCCCAGCCACAGCAGGAGCCCAGGGCAGAC

LH00995:41:23WJ53LT4:1:1260:36717:9870,LH00995:41:23WJ53LT4:2:2395:4179:2415,LH00995:41:23WJ53LT4:4:1163:45649:2415,LH00995:41:23WJ53LT4:4:2113:24728:28758,LH00995:41:23WJ53LT4:5:2113:42162:22383,LH00995:41:23WJ53LT4:6:1148:41280:28842

S100A2(7406),BX470102.2(11517)

S100A1

./+

+/+

chr1:153575296

chr1:153628427

intergenic

CDS/splice-site

deletion/read-through

161

low

|EF_hand(100%),S-100/ICaBP_type_calcium_binding_domain(100%)

ENSG00000160678.12

ENST00000368698.3

downstream

upstream

duplicates(4)

GCCACCCTATCTGAGAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCACCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCGTCCCGTCCAGGAG|CTCCAGCAGCCACATTTGCAACCTTGGCCATCTGTCCAGAACCTGCTCCCACCTCAGGCCCAGGCCAACC___GTGCACTGCTGCAATGGGCTCTGAGCTGGAGACGGCGATGGAGACCCTCATCAACGTGTTCCACGCCCACTCGGGCAAAGAGGGGGACAAGTACAAGCTGAGCAAGAAGGAGCTGAAAGAGCTGCTGCAGACGGAGCTCTCTGGCTTCCTGG

LH00995:41:23WJ53LT4:4:1308:11541:24471,LH00995:41:23WJ53LT4:1:1267:1283:7039,LH00995:41:23WJ53LT4:1:2478:9114:15559,LH00995:41:23WJ53LT4:3:2155:13863:11509,LH00995:41:23WJ53LT4:3:2337:33392:22271,LH00995:41:23WJ53LT4:3:2492:14009:20505,LH00995:41:23WJ53LT4:4:1415:9357:22873,LH00995:41:23WJ53LT4:5:1295:26459:24302

CFAP61

+/+

chr20:20277458

chr20:20246117

CDS/splice-site

duplication/non-canonical_splicing

125

159

low

out-of-frame

Cilia-_and_flagella-associated_protein_61__N-terminal_domain(100%)|

ENSG00000089101.19

ENST00000245957.10

downstream

upstream

duplicates(1)

CATCAACAACTACTCGGTGGAGAGCGCCGTGGCGGACGCGCTAGGAGCCGCCGGAGTCACTATGTACCGGGATGCGATCCTGGCCCAGTGGAATGACGGCCTGCACCCAGACCCCATCTACAGCGCCTCCTTCACCACACCCACCAAGCCTTTCAGACTCCAGTGCTCT|CTCTCACATGAAGTTTAATAATCTTACCCTGATTTCAACTCATGGACTCCCAGGAAAAAAACTTCTGGACACTGAACAAAGGAAATT

INNYSVESAVADALGAAGVTMYRDAILAQWNDGLHPDPIYSASFTTPTKPFRLQCS|lshev*

LH00995:41:23WJ53LT4:1:1157:44783:22803,LH00995:41:23WJ53LT4:1:1255:30698:23041,LH00995:41:23WJ53LT4:2:1218:4463:5092,LH00995:41:23WJ53LT4:3:1435:22536:14592,LH00995:41:23WJ53LT4:5:2390:3912:18796

CDH18

CD63

-/-

chr5:20575750

chr12:55728977

5'UTR

translocation

12901

low

|Tetraspanin_family(100%)

ENSG00000145526.12

ENSG00000135404.12

ENST00000507958.5

ENST00000257857.9

upstream

downstream

duplicates(3)

GGGGAGAGAGAGAGAGAGAGGAAC|GCGCAGCCAGCCTTGGGAAGCCCAG___GCCCGGCAGCCATGGCGGTGGAAGGAGGAATGAAATGTGTGAAGTTCTTGCTCTACGTCCTCCTGCTGGCCTTTTGC___GCCTGTGCAGTGGGACTGATTGCCGTGGGTGTCGGGGCACAGCTTGTCCTGAGTCAGACCATAATCCAGGGGGCTACCCCTGGCTCTCTGTTGCCAGTGGTCATCATCGCAGTGGGTGTCTTCCTCTTCCTGGTGGCTTTTGTGGGCTGCTGCGGG

LH00995:41:23WJ53LT4:1:1151:13612:9197,LH00995:41:23WJ53LT4:1:2486:5199:2359,LH00995:41:23WJ53LT4:2:1432:36879:24050,LH00995:41:23WJ53LT4:4:2495:16509:5162,LH00995:41:23WJ53LT4:5:1483:6979:10458,LH00995:41:23WJ53LT4:5:2116:35269:29109,LH00995:41:23WJ53LT4:5:2343:23070:12798

ANKUB1

-/-

chr3:149767157

chr3:149768095

CDS/splice-site

duplication/non-canonical_splicing

504

574

low

in-frame

Ankyrin_repeats_(many_copies)(100%),Ubiquitin_family(100%)|Ankyrin_repeats_(many_copies)(100%)

ENSG00000206199.11

ENST00000446160.7

upstream

downstream

duplicates(5)

CCTCCCTCCAGTTTCAAGAGTGGGATATTCACATCCATCGTTTTTCTATGCAACACCCAGTGCTGACTTTTTACTGAAGTCCTCCTTCTCATCTTTCTTAGAGCACAGTGGGAAGACTCCATGGGAGAACGCAATCTACTGCTTAGCTGTGGCAAG|GTATCAGAAAAGGGTAGCCCTGTACATTGCTGCTTTTTGTGGGTACATTGAACTCACTGAATGGGCCCTGAAGCAGGGTGCGCGGCCCCACGAGGCAGTCGGTGTTCACCCCTATCGAGCATGGTGCCATGAAGCCC

LPPVSRVGYSHPSFFYATPSADFLLKSSFSSFLEHSGKTPWENAIYCLAVAr|YQKRVALYIAAFCGYIELTEWALKQGARPHEAVGVHPYRAWCHEA

LH00995:41:23WJ53LT4:3:1139:23741:22593,LH00995:41:23WJ53LT4:3:1398:48513:24751,LH00995:41:23WJ53LT4:3:2476:24550:4125,LH00995:41:23WJ53LT4:1:1223:19793:25592,LH00995:41:23WJ53LT4:1:2377:25157:4195,LH00995:41:23WJ53LT4:2:1180:38392:26110,LH00995:41:23WJ53LT4:3:2253:32511:4433,LH00995:41:23WJ53LT4:5:1214:12091:19426,LH00995:41:23WJ53LT4:5:1446:29590:21374

HOPX(11897),RPL17P20(16264)

HOPX

./-

-/-

chr4:56693796

chr4:56656012

intergenic

CDS/splice-site

deletion/read-through

2612

low

|Homeodomain(100%)

ENSG00000171476.22

ENST00000554144.5

upstream

downstream

duplicates(4)

GAGATTGCAGCCTCTGCCTGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATTGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCAACCCCGTCTGGGAG|CGCGCAGGGACCATGTCGGCGGAGACCGCGAGCGGCCCCACAGAGGACCAGGTGGAAATCCTGGAGTACAACTTCAACAAGGTCGACA

LH00995:41:23WJ53LT4:4:1354:7270:16568,LH00995:41:23WJ53LT4:4:1489:22204:28086,LH00995:41:23WJ53LT4:5:2366:36709:16554,LH00995:41:23WJ53LT4:2:2213:26330:15867,LH00995:41:23WJ53LT4:4:2115:42032:29333,LH00995:41:23WJ53LT4:4:2252:29291:11719,LH00995:41:23WJ53LT4:4:2470:15967:26334

GREM2

TFPT

-/-

chr1:240611915

chr19:54114696

5'UTR

CDS

translocation

1133

low

ENSG00000180875.5

ENSG00000105619.14

ENST00000318160.5

ENST00000391759.6

upstream

downstream

duplicates(3)

GGGAGAGAGAGAGAGAGAAGGGACC|ATGGCAGCCGTGGGCTTTGAGGAGTTCTCAGCGCCGCCAGGCTCAGAGTTGGCGTTGCCTCCCCTATTTGGTGGCCACATCCTGGAGAGCGAGCTGGAGACGGAAGTGGAGTTTGTGTCAGGTGGTCTGGG

LH00995:41:23WJ53LT4:1:1245:4333:21122,LH00995:41:23WJ53LT4:2:1360:38060:23742,LH00995:41:23WJ53LT4:3:1167:49613:13625,LH00995:41:23WJ53LT4:4:2282:45139:5288,LH00995:41:23WJ53LT4:5:1286:4835:16357,LH00995:41:23WJ53LT4:6:1150:35836:12406

ANKUB1

DTX2P1

-/-

+/+

chr3:149766815

chr7:76984988

3'UTR

intron

translocation

499

435

low

Ankyrin_repeats_(many_copies)(100%),Ubiquitin_family(100%)|

ENSG00000206199.11

ENSG00000186704.9

ENST00000462519.3

upstream

duplicates(84),low_entropy(20),mismappers(2),mismatches(60),multimappers(7)

GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTTT|GCCCTTGCCTCTAAAAGAACTCACTTCCTCTTCCTCCTGCTGCCACCTGTCTTTTGGCTTGTGGGATTGGAGTCATGGGGCCCAGATGGAGCCTT

LH00995:41:23WJ53LT4:1:1207:35156:11902,LH00995:41:23WJ53LT4:1:1220:16614:24821,LH00995:41:23WJ53LT4:1:1228:42575:24779,LH00995:41:23WJ53LT4:1:1295:4835:7137,LH00995:41:23WJ53LT4:1:1306:20335:20449,LH00995:41:23WJ53LT4:1:1336:44249:21038,LH00995:41:23WJ53LT4:1:1425:43343:3550,LH00995:41:23WJ53LT4:1:1427:45374:13121,LH00995:41:23WJ53LT4:1:1468:2440:5316,LH00995:41:23WJ53LT4:1:1473:7755:10122,LH00995:41:23WJ53LT4:1:1473:7763:10136,LH00995:41:23WJ53LT4:1:1484:19534:7039,LH00995:41:23WJ53LT4:1:2108:16662:8286,LH00995:41:23WJ53LT4:1:2112:35091:27932,LH00995:41:23WJ53LT4:1:2131:21403:16890,LH00995:41:23WJ53LT4:1:2131:8419:10823,LH00995:41:23WJ53LT4:1:2226:21055:18389,LH00995:41:23WJ53LT4:1:2237:34177:8413,LH00995:41:23WJ53LT4:1:2239:37340:26699,LH00995:41:23WJ53LT4:1:2256:10190:19524,LH00995:41:23WJ53LT4:1:2276:20990:4125,LH00995:41:23WJ53LT4:1:2320:29250:13919,LH00995:41:23WJ53LT4:1:2364:40811:4909,LH00995:41:23WJ53LT4:1:2405:35957:10879,LH00995:41:23WJ53LT4:1:2408:2828:28744,LH00995:41:23WJ53LT4:1:2422:29461:6885,LH00995:41:23WJ53LT4:1:2495:48076:17549,LH00995:41:23WJ53LT4:2:1108:11776:14844,LH00995:41:23WJ53LT4:2:1109:48788:12448,LH00995:41:23WJ53LT4:2:1112:35431:5260,LH00995:41:23WJ53LT4:2:1130:48060:25283,LH00995:41:23WJ53LT4:2:1236:49548:16568,LH00995:41:23WJ53LT4:2:1240:26564:25774,LH00995:41:23WJ53LT4:2:1257:41426:18669,LH00995:41:23WJ53LT4:2:1267:36653:8020,LH00995:41:23WJ53LT4:2:1276:36604:9449,LH00995:41:23WJ53LT4:2:1336:10554:17857,LH00995:41:23WJ53LT4:2:1337:17212:1168,LH00995:41:23WJ53LT4:2:1390:4649:2752,LH00995:41:23WJ53LT4:2:1405:39533:5946,LH00995:41:23WJ53LT4:2:1406:3888:19987,LH00995:41:23WJ53LT4:2:1443:44209:25367,LH00995:41:23WJ53LT4:2:1490:5037:15699,LH00995:41:23WJ53LT4:2:2127:23838:1799,LH00995:41:23WJ53LT4:2:2147:49022:24933,LH00995:41:23WJ53LT4:2:2155:47331:20351,LH00995:41:23WJ53LT4:2:2180:21589:11159,LH00995:41:23WJ53LT4:2:2308:31823:14732,LH00995:41:23WJ53LT4:2:2342:23442:22159,LH00995:41:23WJ53LT4:2:2371:28409:2878,LH00995:41:23WJ53LT4:2:2374:24655:28352,LH00995:41:23WJ53LT4:3:1126:13507:4475,LH00995:41:23WJ53LT4:3:1141:36046:25241,LH00995:41:23WJ53LT4:3:1183:5215:15363,LH00995:41:23WJ53LT4:3:1186:39808:7123,LH00995:41:23WJ53LT4:3:1214:14599:16680,LH00995:41:23WJ53LT4:3:1261:36143:21346,LH00995:41:23WJ53LT4:3:1272:47550:22635,LH00995:41:23WJ53LT4:3:1285:44476:4699,LH00995:41:23WJ53LT4:3:1285:44492:4699,LH00995:41:23WJ53LT4:3:1360:51207:21514,LH00995:41:23WJ53LT4:3:1452:37017:9239,LH00995:41:23WJ53LT4:3:1464:17843:24989,LH00995:41:23WJ53LT4:3:1469:51360:1603,LH00995:41:23WJ53LT4:3:1492:50624:17030,LH00995:41:23WJ53LT4:3:2136:15489:27665,LH00995:41:23WJ53LT4:3:2172:40859:20183,LH00995:41:23WJ53LT4:3:2228:45802:15152,LH00995:41:23WJ53LT4:3:2261:50098:25003,LH00995:41:23WJ53LT4:3:2280:5854:29613,LH00995:41:23WJ53LT4:3:2340:5814:24302,LH00995:41:23WJ53LT4:3:2362:8257:6647,LH00995:41:23WJ53LT4:3:2417:1744:17535,LH00995:41:23WJ53LT4:3:2422:29728:13877,LH00995:41:23WJ53LT4:4:1210:2731:7306,LH00995:41:23WJ53LT4:4:1320:10320:20281,LH00995:41:23WJ53LT4:4:1329:32964:2107,LH00995:41:23WJ53LT4:4:1395:33878:11649,LH00995:41:23WJ53LT4:4:1420:19211:5694,LH00995:41:23WJ53LT4:4:1423:8111:6899,LH00995:41:23WJ53LT4:4:1462:29283:1532,LH00995:41:23WJ53LT4:4:1495:51651:16231,LH00995:41:23WJ53LT4:4:2105:39080:7039,LH00995:41:23WJ53LT4:4:2127:38360:7866,LH00995:41:23WJ53LT4:4:2183:43003:10977,LH00995:41:23WJ53LT4:4:2210:27867:15839,LH00995:41:23WJ53LT4:4:2227:5660:12434,LH00995:41:23WJ53LT4:4:2239:31313:24723,LH00995:41:23WJ53LT4:4:2242:8224:7992,LH00995:41:23WJ53LT4:4:2253:8168:15657,LH00995:41:23WJ53LT4:4:2260:38214:7446,LH00995:41:23WJ53LT4:4:2317:12310:11902,LH00995:41:23WJ53LT4:4:2378:29275:3564,LH00995:41:23WJ53LT4:4:2387:36928:9505,LH00995:41:23WJ53LT4:4:2393:27632:18852,LH00995:41:23WJ53LT4:4:2421:23280:4811,LH00995:41:23WJ53LT4:5:1114:17034:26054,LH00995:41:23WJ53LT4:5:1159:40900:20169,LH00995:41:23WJ53LT4:5:1227:28741:6647,LH00995:41:23WJ53LT4:5:1293:5757:23616,LH00995:41:23WJ53LT4:5:1308:30480:28128,LH00995:41:23WJ53LT4:5:1476:17665:10220,LH00995:41:23WJ53LT4:5:2169:35706:27035,LH00995:41:23WJ53LT4:5:2170:6501:3214,LH00995:41:23WJ53LT4:5:2188:48035:25157,LH00995:41:23WJ53LT4:5:2275:47008:18585,LH00995:41:23WJ53LT4:5:2330:3629:17156,LH00995:41:23WJ53LT4:5:2348:31791:15377,LH00995:41:23WJ53LT4:5:2395:6388:26642,LH00995:41:23WJ53LT4:5:2415:9066:24639,LH00995:41:23WJ53LT4:5:2419:42194:19272,LH00995:41:23WJ53LT4:5:2425:11250:14634,LH00995:41:23WJ53LT4:5:2495:46183:16343,LH00995:41:23WJ53LT4:6:1119:51789:25914,LH00995:41:23WJ53LT4:6:1137:36418:27343,LH00995:41:23WJ53LT4:6:1138:43125:1294,LH00995:41:23WJ53LT4:6:1154:51595:21290,LH00995:41:23WJ53LT4:6:1189:48642:3116,LH00995:41:23WJ53LT4:6:1190:30698:14858,LH00995:41:23WJ53LT4:6:1217:17253:1883,LH00995:41:23WJ53LT4:6:1234:47671:11439,LH00995:41:23WJ53LT4:1:1132:12488:28324,LH00995:41:23WJ53LT4:1:1202:22786:1266,LH00995:41:23WJ53LT4:1:1304:33587:26923,LH00995:41:23WJ53LT4:1:1314:10481:17506,LH00995:41:23WJ53LT4:1:1315:49815:26530,LH00995:41:23WJ53LT4:1:1316:39727:11579,LH00995:41:23WJ53LT4:1:1328:5223:10725,LH00995:41:23WJ53LT4:1:1371:46215:9085,LH00995:41:23WJ53LT4:1:1488:45390:25620,LH00995:41:23WJ53LT4:1:2120:22625:8328,LH00995:41:23WJ53LT4:1:2262:13038:23728,LH00995:41:23WJ53LT4:1:2417:2990:20393,LH00995:41:23WJ53LT4:1:2459:51255:25914,LH00995:41:23WJ53LT4:1:2462:30682:22929,LH00995:41:23WJ53LT4:1:2487:3645:5274,LH00995:41:23WJ53LT4:2:1179:17091:23490,LH00995:41:23WJ53LT4:2:1190:29129:22621,LH00995:41:23WJ53LT4:2:1304:33740:1939,LH00995:41:23WJ53LT4:2:1321:6679:13639,LH00995:41:23WJ53LT4:2:1361:50074:18459,LH00995:41:23WJ53LT4:2:1455:12658:11047,LH00995:41:23WJ53LT4:2:1455:12666:11033,LH00995:41:23WJ53LT4:2:1484:36556:20659,LH00995:41:23WJ53LT4:2:2131:4018:25648,LH00995:41:23WJ53LT4:2:2157:17237:18810,LH00995:41:23WJ53LT4:2:2312:39023:14312,LH00995:41:23WJ53LT4:2:2388:36183:9001,LH00995:41:23WJ53LT4:2:2393:47259:1701,LH00995:41:23WJ53LT4:2:2393:47267:1715,LH00995:41:23WJ53LT4:3:1126:22447:29263,LH00995:41:23WJ53LT4:3:1316:42219:9730,LH00995:41:23WJ53LT4:3:1367:31613:23728,LH00995:41:23WJ53LT4:3:1408:46239:11649,LH00995:41:23WJ53LT4:4:1106:17738:10570,LH00995:41:23WJ53LT4:4:1159:20570:16820,LH00995:41:23WJ53LT4:4:1251:10692:12210,LH00995:41:23WJ53LT4:4:1260:11768:5470,LH00995:41:23WJ53LT4:4:2115:37009:26068,LH00995:41:23WJ53LT4:4:2363:9252:20925,LH00995:41:23WJ53LT4:4:2384:5692:17983,LH00995:41:23WJ53LT4:4:2404:29364:29389,LH00995:41:23WJ53LT4:4:2479:10805:17394,LH00995:41:23WJ53LT4:5:1130:51239:17955,LH00995:41:23WJ53LT4:5:1194:9745:16343,LH00995:41:23WJ53LT4:5:1235:17544:4937,LH00995:41:23WJ53LT4:5:1415:51037:17520,LH00995:41:23WJ53LT4:5:1458:38441:3690,LH00995:41:23WJ53LT4:5:1468:45212:13597,LH00995:41:23WJ53LT4:5:1481:39395:13891,LH00995:41:23WJ53LT4:5:2122:31507:13681,LH00995:41:23WJ53LT4:5:2477:32640:23294,LH00995:41:23WJ53LT4:6:1122:2294:18235,LH00995:41:23WJ53LT4:6:1159:17350:11131,LH00995:41:23WJ53LT4:6:1192:11015:26026,LH00995:41:23WJ53LT4:6:1215:41248:17296

WASH5P

WASH6P

-/-

+/+

chr19:66343

chrX:156022006

exon

CDS

translocation

1082

1336

low

ENSG00000282458.1

ENSG00000182484.15

ENST00000631796.1

ENST00000359512.8

upstream

duplicates(6),mismatches(1)

GGCGGCTCGCAG___GCACCATGACTCCTGTGAGGATGCAGCACTCCCTGGCAGGTCAGACCTATGCCGTGCCCcTCATCCAGCCAGACCTGCGGCGAGAGGAGGCCGTCCAGCAGATGGCGGATGCCCTGCAGTACCTGCAGAAGGTCTCTGGAGACATCTTCAGCAGGTG...|...CCAGTGCCAAGTACCCTGCTCCAGAGCGCCTGCAGGAATATGGCTCCATCTTCACGGGCGCCCAGGACCCTGGCCTGCAGAGACGCCCCCGCCACAGGATCCAGAGCAAGCACCGCCCCCTGGACGAGCGGGCCCTGCAG___GAGAAGCTGAAG?ACTTTCCTGTGTGtGTGAGCACCAAGCCGGAGCCCGAGGACGATGCAGAAGAGGG

LH00995:41:23WJ53LT4:1:1282:7415:28198,LH00995:41:23WJ53LT4:2:1384:2205:26040,LH00995:41:23WJ53LT4:2:1384:2214:26054,LH00995:41:23WJ53LT4:2:1440:14810:2976,LH00995:41:23WJ53LT4:2:1440:14826:2976,LH00995:41:23WJ53LT4:2:1440:14834:3018,LH00995:41:23WJ53LT4:2:1440:14842:3004,LH00995:41:23WJ53LT4:2:1440:14850:2990,LH00995:41:23WJ53LT4:3:1393:49815:21990,LH00995:41:23WJ53LT4:3:1393:49823:22004

NAA60

CLUAP1

+/+

chr16:3476337

chr16:3504720

CDS/splice-site

deletion/read-through

3985

854

low

out-of-frame

Acetyltransferase_(GNAT)_family(10%)|Clusterin-associated_protein-1(100%)

ENSG00000122390.19

ENSG00000103351.13

ENST00000414063.6

ENST00000576634.6

downstream

upstream

duplicates(6)

GTTGCGGGCTCCGCGCGGTCCCACTTCCCGGCTCCCTTCGCCTCCAGGATGCGCTGAGCCCTACAACACCCCCAGCGGCCGCCGGCTCCCCCACGAG___GTGTGAATGACAGAGGTGGTGCCATCCAGCGCGCTCAGCGAGGTCAGCCTGCGCCTCCTCTGCCACGATGACATAGACACTGTGAAGCACCTGTGTGGCGACTGGTTCCCCATCGA|ATTTCACAGAGATGATGAGAGCCCTGGGATACCCTCG

MTEVVPSSALSEVSLRLLCHDDIDTVKHLCGDWFPIe|fhrddespgip

LH00995:41:23WJ53LT4:5:2278:46344:14073,LH00995:41:23WJ53LT4:6:1143:2869:12672,LH00995:41:23WJ53LT4:1:2309:50810:9029,LH00995:41:23WJ53LT4:1:2309:50826:9029,LH00995:41:23WJ53LT4:1:2309:50842:9029,LH00995:41:23WJ53LT4:1:2309:50851:9043,LH00995:41:23WJ53LT4:4:1380:35552:24863,LH00995:41:23WJ53LT4:4:2181:42324:11033,LH00995:41:23WJ53LT4:5:2393:15950:1589

NAA60

CLUAP1

+/+

chr16:3458181

chr16:3506331

5'UTR/splice-site

CDS/splice-site

deletion/read-through

2429

837

low

Acetyltransferase_(GNAT)_family(5%)|Clusterin-associated_protein-1(88%)

ENSG00000122390.19

ENSG00000103351.13

ENST00000360862.9

ENST00000576634.6

downstream

upstream

ACTTCCCGGCTCCCTTCGCCTCCAGGATGCGCTGAGCCCTACAACACCCCCAGCGGCCGCCGGCTCCCCCAC?AG|ATATGAGCCCCAGACTGACATCCCGCCTGACGTGGATACTGAACAGGACCGAGTTTTCTTCATTAAGGCAATTGCCCAGTTCATGG

LH00995:41:23WJ53LT4:2:1365:25084:17549,LH00995:41:23WJ53LT4:1:1418:48318:25059

NAA60

CLUAP1

+/+

chr16:3482598

chr16:3504720

CDS/splice-site

deletion/read-through

2259

854

low

in-frame

Acetyltransferase_(GNAT)_family(67%)|Clusterin-associated_protein-1(100%)

ENSG00000122390.19

ENSG00000103351.13

ENST00000407558.9

ENST00000576634.6

downstream

upstream

duplicates(8)

AGGATGGAGATATTCTAGCATCCAACTTCTCTGTTGACACACAAGTCGCGTACATCCTAAGTCTGGGCGTCGTGAAAGAGTTCAGGAAGCACGGCATAG|ATTTCACAGAGATGATGAGAGCCCTGGGATACCCTCGACATATTTCTATGGAAAATTTCC

DGDILASNFSVDTQVAYILSLGVVKEFRKHGI|dFTEMMRALGYPRHISMENF

LH00995:41:23WJ53LT4:3:1134:23765:12995,LH00995:41:23WJ53LT4:3:1162:42615:25129,LH00995:41:23WJ53LT4:3:2164:17447:11019,LH00995:41:23WJ53LT4:1:2309:50810:9029,LH00995:41:23WJ53LT4:1:2309:50826:9029,LH00995:41:23WJ53LT4:1:2309:50842:9029,LH00995:41:23WJ53LT4:1:2309:50851:9043,LH00995:41:23WJ53LT4:4:1380:35552:24863,LH00995:41:23WJ53LT4:4:2181:42324:11033,LH00995:41:23WJ53LT4:5:2393:15950:1589

SDHD

BCO2

+/+

chr11:112089012

chr11:112193475

3'UTR/splice-site

CDS/splice-site

deletion/read-through

6407

516

low

CybS__succinate_dehydrogenase_cytochrome_B_small_subunit(48%)|Retinal_pigment_epithelial_membrane_protein(92%)

ENSG00000204370.13

ENSG00000197580.13

ENST00000640554.1

ENST00000531169.5

downstream

upstream

duplicates(3)

CTGGCTCCAAGGCTGCATCTCTCCACTGGACTAGCGAGAGGGTTGTCAGTGTTTTGCTCCTGGGTCTGCTTCCGGCTGCTTATTTGAATCCTTGCTCTGCGATGGACTATTCCCTGGCTGCAGCCCTCACTCTTCATGGTCACTGG|TACAATCATTGGTTTGATGGGATGGCGCTGCTTCACCAGTTCAGAAT

LH00995:41:23WJ53LT4:1:1189:4778:16792,LH00995:41:23WJ53LT4:2:1291:2553:26923,LH00995:41:23WJ53LT4:2:1419:16678:10444,LH00995:41:23WJ53LT4:3:1379:26338:27988,LH00995:41:23WJ53LT4:5:1334:14421:14970

ATP5MF

PTCD1

-/-

chr7:99460086

chr7:99435268

CDS/splice-site

5'UTR/splice-site

deletion/read-through

5052

711

low

in-frame

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

ENSG00000241468.8

ENSG00000106246.18

ENST00000414062.5

ENST00000292478.9

upstream

downstream

duplicates(3),low_entropy(1)

TCCAAAATGGCGTCAGTTG___TACCAGTGAAGGACAAGAAACTTCTGGAGGTCAAACTGGGGGAGCTGCCAAGCTGGATCTTGATGCGGGACTTCAGTCCTAGTGGCATTTTCGGAGCGTTTCAAAGAG|GCCCTGGAGGGACAGGAAAGCCAGAAATGGACTTCGTGAGACTCGCTCGACTGTTCGCCAGGGCCCGCCCCATGGGACTGTTCATCCTGCAACACCTGGACCCCTGTAGAGCCAGGTGGGCAGGAGGCAGGGAGGGGCTGATGCGGCCAATGTGGGCGCCCTTCAGCAGCTCCTCCTCTCAGCTGCCCCTCGGCCAGGAGCGTCAGGAAAACACGGGCAGCCTGGGCTCTGACCCGAGCCACTCCAACTCCACGGCCACGC

MASVVPVKDKKLLEVKLGELPSWILMRDFSPSGIFGAFQR|gpggtgkpeMDFVRLARLFARARPMGLFILQHLDPCRARWAGGREGLMRPMWAPFSSSSSQLPLGQERQENTGSLGSDPSHSNSTAT

LH00995:41:23WJ53LT4:4:2164:17633:21262,LH00995:41:23WJ53LT4:1:2197:46684:21892,LH00995:41:23WJ53LT4:2:2111:11768:7207,LH00995:41:23WJ53LT4:2:2167:10312:20911,LH00995:41:23WJ53LT4:2:2207:14478:8202,LH00995:41:23WJ53LT4:2:2284:47534:12042,LH00995:41:23WJ53LT4:3:1397:37874:1925

PCDHGA3

PCDHGA8

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

GTGGGCGcGGACGGGGTTCGGGCTTTCCTGCAGACCTATTCCCACGAG___GTCTCCCTCACTGCGGACTCGCGGAAGAGCCACCTGATTTTCCCCCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAATGAAAGGAGATTCCAACCTACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCA

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

LH00995:41:23WJ53LT4:1:1196:51538:1238,LH00995:41:23WJ53LT4:1:1196:51538:1238,LH00995:41:23WJ53LT4:1:2226:2553:14732,LH00995:41:23WJ53LT4:2:2346:12302:5554,LH00995:41:23WJ53LT4:2:2346:12310:5568,LH00995:41:23WJ53LT4:2:2394:25319:3494,LH00995:41:23WJ53LT4:3:1411:34816:9127,LH00995:41:23WJ53LT4:3:1411:34832:9127,LH00995:41:23WJ53LT4:1:1281:1162:7081,LH00995:41:23WJ53LT4:2:1497:18296:4195,LH00995:41:23WJ53LT4:4:1246:19389:5638,LH00995:41:23WJ53LT4:5:1395:32276:26867,LH00995:41:23WJ53LT4:5:1395:32284:26853,LH00995:41:23WJ53LT4:5:2273:13928:3158

PCDHGA3

PCDHGA10

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGA11

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGB6

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGA9

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGC5

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGC4

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGB7

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGC3

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

PCDHGA3

PCDHGA12

+/+

chr5:141346457

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

7088

low

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(10),mismappers(1),multimappers(1)

VSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLLEMKGDSNLLQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWP

DDX19A

DDX19B

+/+

chr16:70356247

chr16:70317496

CDS/splice-site

duplication

1248

1212

low

|DEAD/DEAH_box_helicase(100%),Helicase_conserved_C-terminal_domain(100%)

ENSG00000168872.17

ENSG00000157349.17

ENST00000567012.5

ENST00000566216.5

downstream

upstream

duplicates(17),mismappers(1),mismatches(2)

GAGAAAG___...GAaAGAGGACAGAGCTGCCCAGTCCTTACTCAACAAGCTGATCAGAAGCAACCTTGTTGATAACACAAACCAAGTGGAAGTCCTGCAgCGGGATCCAAACTCCCCTCTGTACTCGGTGAAGTCtTTTGAAGAGCTTCGGCT|GAAACCACAGCTTCTCCAAGGAGTCTATGCCATGGGTTTCAATCGTCCATCCAAGATACAAGAGAACGCATTGCCACTGATGCTTGCTGAGCC___CCCACAGAACTTAATTGCCCAATCTCAGTCTGGTACTGGTAAAACAGCTGCCTTCGTGCTGGCCATGCTTAGCCAAGTAGAACCTGCAAACAAATACCCCCAG___TGTCTATGTCTCTCCCCAACGTATGAGCTCGCCCTCCAAACAGGAAAAGTGATTGAACAAATGGGCAAATTTTACCCTGAACTGAAGCTAGCTTATGCTGTT

LH00995:41:23WJ53LT4:1:2163:32130:28800,LH00995:41:23WJ53LT4:1:2163:32130:28800,LH00995:41:23WJ53LT4:2:1104:36507:11439,LH00995:41:23WJ53LT4:2:1104:36507:11439,LH00995:41:23WJ53LT4:2:1448:18685:8763,LH00995:41:23WJ53LT4:3:2472:13483:25171,LH00995:41:23WJ53LT4:3:2472:13483:25171,LH00995:41:23WJ53LT4:3:2472:13491:25157,LH00995:41:23WJ53LT4:3:2472:13491:25157,LH00995:41:23WJ53LT4:4:1480:22398:25620,LH00995:41:23WJ53LT4:5:1395:26661:7446,LH00995:41:23WJ53LT4:5:1395:26661:7446,LH00995:41:23WJ53LT4:5:2255:8621:24485,LH00995:41:23WJ53LT4:5:2255:8621:24485,LH00995:41:23WJ53LT4:6:1129:5644:24877,LH00995:41:23WJ53LT4:6:1129:5644:24877,LH00995:41:23WJ53LT4:6:1129:5652:24891,LH00995:41:23WJ53LT4:6:1129:5652:24891,LH00995:41:23WJ53LT4:6:1129:5660:24905,LH00995:41:23WJ53LT4:6:1129:5660:24905,LH00995:41:23WJ53LT4:6:1129:5676:24905,LH00995:41:23WJ53LT4:6:1129:5676:24905

DDX19A

DDX19B

+/+

chr16:70365131

chr16:70329292

CDS/splice-site

duplication

748

1179

low

in-frame

DEAD/DEAH_box_helicase(52%)|DEAD/DEAH_box_helicase(47%),Helicase_conserved_C-terminal_domain(100%)

ENSG00000168872.17

ENSG00000157349.17

ENST00000302243.12

ENST00000563392.5

downstream

upstream

low_entropy(1)

CCCACAGAATCTGATTGCCCAGTCTCAGTCTGGCACTGGTAAAACAGCTGCCTTTGTCTTAGCCATGCTCAGCCGAGTGGAGCCATCAGACAGATACCCCCAG___TGTCTGTGCCTCTCCCCAACATATGAGCTGGCGCTTCAAACAGGAA...CAATAAAT|TGGAAAGAGGCCAGAAGATCAGTGAGCAGATTGTCATTGGCACCCCTGGGACcGTGCTGGACTGGTGCTCCAAGCTCAAGTTCATTGATCCCAAGAAAATCAAGGTGTTTGTTCTGGATGAGGCTGATGTCATGATAGCCAC

NK|lERGQKISEQIVIGTPGTVLDWCSKLKFIDPKKIKVFVLDEADVMIA

LH00995:41:23WJ53LT4:5:1207:28959:22747

DDX19A

DDX19B

+/+

chr16:70366260

chr16:70329831

CDS/splice-site

duplication

2559

1721

low

out-of-frame

DEAD/DEAH_box_helicase(87%)|DEAD/DEAH_box_helicase(11%),Helicase_conserved_C-terminal_domain(100%)

ENSG00000168872.17

ENSG00000157349.17

ENST00000302243.12

ENST00000563392.5

downstream

upstream

duplicates(3),mismappers(2)

AGAAAATCAAGGTGTTTGTTCTGGATGAGGCTGATGTCATGATAGCCACTCAGGGCCACCAAGATCAGAGCATCCGCATCCAG|GATGCTGCCCAGGAACTGCCAGATGCTGCTTTTCTCCGCCACCTTTGAAGACTCT

KIKVFVLDEADVMIATQGHQDQSIRIQ|daaqelpdaaflrhl*

LH00995:41:23WJ53LT4:1:1219:51174:10248,LH00995:41:23WJ53LT4:3:2229:38149:4531,LH00995:41:23WJ53LT4:4:1406:15570:23798,LH00995:41:23WJ53LT4:4:1467:5296:20183,LH00995:41:23WJ53LT4:5:1323:34161:12952

BOLA2B

SMG1P2

-/-

chr16:30192995

chr16:29548761

CDS

exon/splice-site

deletion

5760

639

low

out-of-frame

BolA-like_protein(100%)|

ENSG00000169627.9

ENSG00000205534.6

ENST00000305321.4

ENST00000566127.1

upstream

downstream

duplicates(8),multimappers(1)

GCTCCCGCACATCCATGCCTTTGAACAGAAAACCCTGACCCCAGACCAGTGGG|TTCTGTACAGAGTAATGAGATGTGTGACGGCTGCAAACCAGG...TGTTGGTGTTTTGCTCGGCAGCTTGGATCCTAGCATGACTATACATTGTGACATGGTCATTACATATGGATTAGACCAACTGGAGAATTGCCAGACTTGTGGTACCAATTATATCATCTCAGTCTTGAATTTACTCACGCTG___ATTGTTGAA

LPHIHAFEQKTLTPDQW|vlyrvmrcvtaanq

LH00995:41:23WJ53LT4:4:2356:17536:22299,LH00995:41:23WJ53LT4:1:1292:19793:22453,LH00995:41:23WJ53LT4:1:2255:51279:28898,LH00995:41:23WJ53LT4:1:2406:43723:10206,LH00995:41:23WJ53LT4:2:2123:1639:20239,LH00995:41:23WJ53LT4:3:1214:23636:4867,LH00995:41:23WJ53LT4:4:2391:47291:2093,LH00995:41:23WJ53LT4:5:1382:20214:10935,LH00995:41:23WJ53LT4:5:1382:20222:10949,LH00995:41:23WJ53LT4:5:2345:4115:1687,LH00995:41:23WJ53LT4:5:2345:4139:1701

BOLA2B

SMG1P2

-/-

chr16:30193358

chr16:29546267

CDS/splice-site

exon/splice-site

deletion

8953

1525

low

out-of-frame

BolA-like_protein(62%)|

ENSG00000169627.9

ENSG00000205534.6

ENST00000305321.4

ENST00000566127.1

upstream

downstream

duplicates(2)

ACGACCCTCAACCGTTGCTCCTGTAGCTTCCGAGTCCTGGTGGTGTCGGCCAAGTTCGAGGGGAAACCGCTGCTTCAGAGACACAG|ATTaTTGAACAGATAAATACGAAACTGCCATCATCATTTGTAGAAAAACTGTTTATACCATCATCTAAACTACTATTCTTGCGTTATCATAAAGAAAAAGAG___GTTGTTGC

TTLNRCSCSFRVLVVSAKFEGKPLLQRHr|llnr*

LH00995:41:23WJ53LT4:1:1452:4082:18782,LH00995:41:23WJ53LT4:3:2214:47234:23322,LH00995:41:23WJ53LT4:6:1141:16347:28898

C2orf16

STON2

+/-

-/-

chr2:27558139

chr14:81278739

intron

CDS/splice-site

translocation/3'-3'

5498

low

|Adaptor_complexes_medium_subunit_family(100%),Stonin_2(38%)

ENSG00000221843.4

ENSG00000140022.13

ENST00000649389.1

upstream

downstream

multimappers(2)

CGTCTCTGCCCGGCCGCCATCCCATCTaGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCtGCCCATCGTCTGAGATGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTG...GAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAA|ACAATTCCTCCTCGCTTCAAGAAGATGAAGAAGTAGAGATGGAGGCCATCAGCTGGCAGGCCAGCAGTCCAGCCATGAATGGGCACCCTGCCCCTCCAGTGACCTCTGCTCGTTTTCCCAGCTGGGTCACCTTTGATGACAATGAAGTCAGCTGCCCTTTACCACCAGTCACCTCT

LH00995:41:23WJ53LT4:1:1311:47356:5428,LH00995:41:23WJ53LT4:1:2495:24437:20855,LH00995:41:23WJ53LT4:5:2121:2853:27105

PDIA3

PDIA3P1

+/+

chr15:43770581

chr1:147178969

intron

exon

translocation

12534

3912

low

out-of-frame

Thioredoxin(93%),Thioredoxin-like_domain(100%)|

ENSG00000167004.13

ENSG00000180867.11

ENST00000300289.10

ENST00000649713.1

downstream

upstream

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

AGCTCAGCAAAGACCCAAATATCGTCATAGCCAAGATGGATGCCACAGCCAATGATGTGCCTTCTCCATATGAAGTCAGAGG___TTTTCCTACCATATACTTCTCTCCAGCCAACAAGAAGCTAAATCCAAAGAAATATGAAG|GTGGCAAAGAAATTCCTGGATGCTGGGCACAAACTCAACTTTGCTGTAGCTAGCCGCAAAACCTTTAGCCATGAACTTTCTGATTTTGGCTTGGAGAGCACTGCTGGAGAGATTCCTGTTGTTGCTATCAGAACTGCT

LSKDPNIVIAKMDATANDVPSPYEVRGFPTIYFSPANKKLNPKKYE|ggkeipgcwaqtqlccs*

LH00995:41:23WJ53LT4:1:2186:34679:4433,LH00995:41:23WJ53LT4:5:1429:52032:8034,LH00995:41:23WJ53LT4:5:1143:3055:2233,LH00995:41:23WJ53LT4:5:1143:3071:2233,LH00995:41:23WJ53LT4:6:1198:25529:3046

SP140L

SP140

+/+

chr2:230400242

chr2:230310743

CDS/splice-site

duplication

580

1376

low

in-frame

HSR_domain(100%),PHD-finger(75%),SAND_domain(100%)|Bromodomain(100%)

ENSG00000185404.17

ENSG00000079263.19

ENST00000415673.7

ENST00000420434.7

downstream

upstream

duplicates(3),mismappers(1)

GGgGtTGTTCTGTTGCGACACTTGTTCAAGAGTCTTCCATGAGGACTGCCACATCCCACCTGTGGAAAGTGAGAA|GACCCCGTGGAATTGCATCTTCTGCAGGATGAAGGAGTCTCCGGGAAGCCAACAGTGTTGTCAGGAATCTGAGGTCCTGGAGAGGCAGATGTGTCCTGAGGAACAGTTG___AAATGTGAG

gLFCCDTCSRVFHEDCHIPPVESEk|TPWNCIFCRMKESPGSQQCCQESEVLERQMCPEEQLkc

LH00995:41:23WJ53LT4:2:2365:11727:9968,LH00995:41:23WJ53LT4:4:1201:23045:14242,LH00995:41:23WJ53LT4:4:1201:23053:14256,LH00995:41:23WJ53LT4:5:1226:44346:18992,LH00995:41:23WJ53LT4:5:2336:1582:15433

SP140L

SP140

+/+

chr2:230400242

chr2:230310770

CDS/splice-site

CDS

duplication

580

1586

low

in-frame

HSR_domain(100%),PHD-finger(75%),SAND_domain(100%)|Bromodomain(100%)

ENSG00000185404.17

ENSG00000079263.19

ENST00000415673.7

ENST00000420434.7

downstream

upstream

duplicates(2)

CCACATCCCACCTGTGGAAAGTGAGAA|GATGAAGGAGTCTCCGGGAAGCCAACAGTGTTGTCAGGAATCTGAGGTCCTGGAGAGGCAGATGTGTCCTGAGGAACAGTTG___AAATGTG

HIPPVESEk|MKESPGSQQCCQESEVLERQMCPEEQLkc

LH00995:41:23WJ53LT4:4:1332:7731:18403,LH00995:41:23WJ53LT4:5:1184:41531:11958,LH00995:41:23WJ53LT4:5:1184:41539:11972

SP140L

SP140

+/+

chr2:230388633

chr2:230255452

CDS/splice-site

duplication

1042

770

low

in-frame

HSR_domain(100%),SAND_domain(1%)|Bromodomain(100%),SAND_domain(100%)

ENSG00000185404.17

ENSG00000079263.19

ENST00000415673.7

ENST00000392045.8

downstream

upstream

duplicates(1),mismatches(1)

CAGAAAAGAGTCCGATCAAGAG|AGGGCAGTGATGACTGTTCGGAAATGTGTGATGGAGAAGAGCGCCAGGAAGCCTCTAGCTCCCTAGCAAGACGTGGGTCAG___TGTCTAGTGAACTAGAAAATCACCCAATGAATGAAGAAGGAGAATCAGAAGAGCTTGCTTCTAGCCTGCTATATGATAATGTACCAG___GAGCGGAGCAATCAGCATATGAAgATGAGAAGTGTTCCTGTGTCATGTGTTTCTCAG

QKRVRSR|eGSDDCSEMCDGEERQEASSSLARRGSVSSELENHPMNEEGESEELASSLLYDNVPGAEQSAYEdEKCSCVMCFS

LH00995:41:23WJ53LT4:2:1462:41337:20281,LH00995:41:23WJ53LT4:2:1462:41345:20267

SP140L

SP140

+/+

chr2:230401807

chr2:230309924

CDS/splice-site

duplication

1050

362

low

in-frame

Bromodomain(100%),HSR_domain(100%),PHD-finger(100%),SAND_domain(100%)|Bromodomain(100%)

ENSG00000185404.17

ENSG00000079263.19

ENST00000415673.7

ENST00000420434.7

downstream

upstream

mismatches(1)

GCCCATGTGGTTGGATAAAATCAAGAAAAGGCTGAATGAGCACGGTTACCCCCAAGTGGAGGGGTTTGTACAAGACATGCGCCTCATCTTCCAGAACCACAGGGCCTCTTACAAG|ATGAGAAACCTGGATGAGTGTGAG

PMWLDKIKKRLNEHGYPQVEGFVQDMRLIFQNHRASYK|MRNLDEC

LH00995:41:23WJ53LT4:3:2393:49831:11509

SP140L

SP140

+/+

chr2:230385304

chr2:230287894

CDS/splice-site

duplication

1083

752

low

out-of-frame

HSR_domain(100%)|Bromodomain(100%),SAND_domain(100%)

ENSG00000185404.17

ENSG00000079263.19

ENST00000415673.7

ENST00000420434.7

downstream

upstream

mismappers(1)

TGGTCTCcAGTGAAAAGAAGGCGAACgTGAATCTGAAAGACCTTTCCAAGATTAGGG|AGAAAGAGAGGCAAACCTGGAACCCGCTTCACTCAGAGTGACAGAGCTGCACAGAAAAG

VSSEKKANvNLKDLSKIR|ekerqtwnplhse*

LH00995:41:23WJ53LT4:4:2334:20076:16582

SP140L

SP140

+/+

chr2:230328831

chr2:230290460

CDS/splice-site

duplication

2002

708

low

out-of-frame

|Bromodomain(100%),SAND_domain(100%)

ENSG00000185404.17

ENSG00000079263.19

ENST00000415673.7

ENST00000420434.7

downstream

upstream

duplicates(1),mismappers(1)

AACCATCTTCCTGCACACAGCCAAAGTCTGCAAAG|CTTCAAGAAAGCACAAAGATGAAACTGTGGATTTTAAGGCTCCTTTGCTTCCAGTGACCTGTGGTGGGGTGAAGGG

NHLPAHSQSLQs|fkkaqr*

LH00995:41:23WJ53LT4:4:1142:33400:14438,LH00995:41:23WJ53LT4:4:1142:33409:14452

229 rows