aih-tih-sc-607ec3-R1_A23YTGFLT4_1.arriba.fusions.tsv - Workdir - NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-607ec3-R1_A23YTGFLT4_1)

File Info

Filename: aih-tih-sc-607ec3-R1_A23YTGFLT4_1.arriba.fusions.tsv
Full Path: s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/2a/258308b7745035f2cf2b9bcee375d2/aih-tih-sc-607ec3-R1_A23YTGFLT4_1.arriba.fusions.tsv
Size: 248.3 KB
Task: NFCORE_RNAFUSION:RNAFUSION:ARRIBA_WORKFLOW:ARRIBA (aih-tih-sc-607ec3-R1_A23YTGFLT4_1)
Attempt

Content

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#gene1

gene2

strand1(gene/fusion)

strand2(gene/fusion)

breakpoint1

breakpoint2

site1

site2

type

split_reads1

split_reads2

discordant_mates

coverage1

coverage2

confidence

reading_frame

tags

retained_protein_domains

closest_genomic_breakpoint1

closest_genomic_breakpoint2

gene_id1

gene_id2

transcript_id1

transcript_id2

direction1

direction2

filters

fusion_transcript

peptide_sequence

read_identifiers

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15440285

CDS

5'UTR/splice-site

deletion/read-through

506

150

high

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(52),mismappers(1),mismatches(2)

CTGGTCTGAAAGTCTTGGGCTCAAGAGATCCTCCCGCTTCCGCCTTCCAAAGCGCTGGGATAACAGGCGTGAGCCGCTGCCCGGGCCATCCCTCGAGGAAGTTTCATCAG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCC

GLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQ|esepvmlrnq*

LH00995:48:23YTGFLT4:1:1122:13839:6451,LH00995:48:23YTGFLT4:1:2176:18183:22495,LH00995:48:23YTGFLT4:1:2287:17722:23630,LH00995:48:23YTGFLT4:1:2341:37381:7292,LH00995:48:23YTGFLT4:2:1126:11040:6199,LH00995:48:23YTGFLT4:2:1126:11048:6185,LH00995:48:23YTGFLT4:2:1126:11056:6171,LH00995:48:23YTGFLT4:2:1137:14373:1659,LH00995:48:23YTGFLT4:2:1346:44071:26054,LH00995:48:23YTGFLT4:2:1346:44079:26068,LH00995:48:23YTGFLT4:2:1445:26297:25928,LH00995:48:23YTGFLT4:2:1482:32082:20057,LH00995:48:23YTGFLT4:2:2311:21112:17675,LH00995:48:23YTGFLT4:2:2403:11379:12616,LH00995:48:23YTGFLT4:3:1474:16549:25522,LH00995:48:23YTGFLT4:3:2124:25068:11888,LH00995:48:23YTGFLT4:3:2177:25990:5750,LH00995:48:23YTGFLT4:3:2340:22422:3046,LH00995:48:23YTGFLT4:3:2350:47623:14830,LH00995:48:23YTGFLT4:3:2446:9155:17170,LH00995:48:23YTGFLT4:4:1284:20456:13037,LH00995:48:23YTGFLT4:4:2104:19987:9898,LH00995:48:23YTGFLT4:4:2143:7391:13499,LH00995:48:23YTGFLT4:5:1273:13095:7151,LH00995:48:23YTGFLT4:5:2478:35666:15727,LH00995:48:23YTGFLT4:6:2232:28530:24695,LH00995:48:23YTGFLT4:7:1414:17698:9351,LH00995:48:23YTGFLT4:7:1414:17714:9351,LH00995:48:23YTGFLT4:7:1493:40059:3270,LH00995:48:23YTGFLT4:7:2208:24639:28268,LH00995:48:23YTGFLT4:7:2264:29161:7067,LH00995:48:23YTGFLT4:8:1168:24930:23700,LH00995:48:23YTGFLT4:8:1168:24938:23686,LH00995:48:23YTGFLT4:8:1250:17698:27399,LH00995:48:23YTGFLT4:8:2204:46021:15811,LH00995:48:23YTGFLT4:1:1120:44500:23602,LH00995:48:23YTGFLT4:1:1179:49605:17422,LH00995:48:23YTGFLT4:1:1270:10676:21878,LH00995:48:23YTGFLT4:1:1360:6712:8146,LH00995:48:23YTGFLT4:1:1388:25950:5540,LH00995:48:23YTGFLT4:1:2190:47736:20911,LH00995:48:23YTGFLT4:1:2202:21120:18950,LH00995:48:23YTGFLT4:1:2376:18652:1645,LH00995:48:23YTGFLT4:1:2444:37575:20463,LH00995:48:23YTGFLT4:2:1219:19332:15853,LH00995:48:23YTGFLT4:2:1308:4252:27287,LH00995:48:23YTGFLT4:2:2288:12650:14900,LH00995:48:23YTGFLT4:3:1138:6081:10584,LH00995:48:23YTGFLT4:3:1163:18296:13583,LH00995:48:23YTGFLT4:3:1201:18782:25886,LH00995:48:23YTGFLT4:3:1270:26047:18599,LH00995:48:23YTGFLT4:3:1301:46280:18473,LH00995:48:23YTGFLT4:3:1370:14462:15685,LH00995:48:23YTGFLT4:3:2252:42316:7320,LH00995:48:23YTGFLT4:4:1116:47590:26628,LH00995:48:23YTGFLT4:4:1172:23466:7151,LH00995:48:23YTGFLT4:4:1383:6744:23420,LH00995:48:23YTGFLT4:4:2224:42235:23882,LH00995:48:23YTGFLT4:4:2314:32106:26404,LH00995:48:23YTGFLT4:4:2356:15999:14312,LH00995:48:23YTGFLT4:4:2375:44710:18445,LH00995:48:23YTGFLT4:4:2421:35916:29249,LH00995:48:23YTGFLT4:4:2424:47550:18768,LH00995:48:23YTGFLT4:5:1172:49184:7670,LH00995:48:23YTGFLT4:5:1328:3937:3901,LH00995:48:23YTGFLT4:5:1361:8896:18123,LH00995:48:23YTGFLT4:5:2252:18507:19328,LH00995:48:23YTGFLT4:5:2330:8499:15447,LH00995:48:23YTGFLT4:6:1392:24534:18529,LH00995:48:23YTGFLT4:6:2169:28644:11663,LH00995:48:23YTGFLT4:6:2379:21783:23322,LH00995:48:23YTGFLT4:6:2379:21791:23308,LH00995:48:23YTGFLT4:7:1202:46207:15377,LH00995:48:23YTGFLT4:7:1289:41345:6283,LH00995:48:23YTGFLT4:7:1295:28676:20267,LH00995:48:23YTGFLT4:7:1417:38780:7418,LH00995:48:23YTGFLT4:7:1417:51765:27834,LH00995:48:23YTGFLT4:7:2263:10223:7894,LH00995:48:23YTGFLT4:7:2418:6089:26965,LH00995:48:23YTGFLT4:7:2452:25974:7824,LH00995:48:23YTGFLT4:8:1347:27624:26965,LH00995:48:23YTGFLT4:8:1347:27632:26979,LH00995:48:23YTGFLT4:8:2326:18992:7782,LH00995:48:23YTGFLT4:8:2326:19000:7796,LH00995:48:23YTGFLT4:8:2341:29509:16217

TVP23C

CDRT4

-/-

chr17:15545785

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

311

150

low

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000225576.7

ENST00000619038.5

upstream

downstream

duplicates(3)

CCATTGGGTGTTTGAATCTAGAAAG___GAGTCCTCTCAAGAGAATAAAACTGTGTCAGAGGCTGAATCAAGAATCTTTTGGTTGGGACTTATTGCCTGTTCAGTACTGTGGGTGATATTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAA

HWVFESRKESSQENKTVSEAESRIFWLGLIACSVLWVIFAFSALFSFTVKWL|esepvmlrnq*

LH00995:48:23YTGFLT4:7:1224:22932:21724,LH00995:48:23YTGFLT4:7:2160:5498:1785,LH00995:48:23YTGFLT4:8:2210:40277:20603,LH00995:48:23YTGFLT4:5:1148:1388:27932,LH00995:48:23YTGFLT4:7:1302:45592:13443,LH00995:48:23YTGFLT4:7:1333:48618:22859,LH00995:48:23YTGFLT4:8:1307:37122:7151,LH00995:48:23YTGFLT4:8:1363:33142:9870

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

799

150

low

out-of-frame

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

ENSG00000175106.17

ENSG00000239704.11

ENST00000428082.6

ENST00000619038.5

upstream

downstream

duplicates(11)

TTTGCCTTTAGTGCACTCTTCTCCTTCACAGTAAAGTGGCTG___GCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCG

FAFSALFSFTVKWLAVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrnq*

LH00995:48:23YTGFLT4:6:2403:19615:13709,LH00995:48:23YTGFLT4:1:2221:41207:9800,LH00995:48:23YTGFLT4:1:2315:6817:20743,LH00995:48:23YTGFLT4:2:2114:28069:15993,LH00995:48:23YTGFLT4:2:2425:40843:26264,LH00995:48:23YTGFLT4:3:2405:22964:19903,LH00995:48:23YTGFLT4:4:1382:49589:13527,LH00995:48:23YTGFLT4:5:2136:41628:27595,LH00995:48:23YTGFLT4:5:2455:3387:29123,LH00995:48:23YTGFLT4:6:2430:12512:18501,LH00995:48:23YTGFLT4:7:1151:14243:14886,LH00995:48:23YTGFLT4:7:1383:30925:21164,LH00995:48:23YTGFLT4:8:1197:36005:3396,LH00995:48:23YTGFLT4:8:2315:40374:25507

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15438200

CDS/splice-site

deletion/read-through

799

373

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(1),low_entropy(1)

TTGGAAAGCAGTTTTTAAGACAA|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAG

GKQFLRQ|dsqktldfpgsylknmtpgrpmspiplrq*

LH00995:48:23YTGFLT4:6:1344:44985:27413,LH00995:48:23YTGFLT4:7:1166:51886:5316,LH00995:48:23YTGFLT4:7:2321:23118:8006

TVP23C

CDRT4

-/-

chr17:15516419

chr17:15440285

3'UTR/splice-site

5'UTR/splice-site

deletion/read-through

150

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

GAGGAAACCAGCCCTGCTGACACCTTGATCTTGGGCTTCCAGTCTCCAGAACT|GAATCTGAACCTGTGATGTTAAGAAATCAGTAAATATTAAAAAGAAGATGGATGCAAGAAGGATGAAGAAAGAAGAAG___GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGAtCCCTGGCCGG

LH00995:48:23YTGFLT4:3:1398:17682:6213

TLK2P1

AC110079.1

-/-

+/+

chr17:34039043

chr4:118595912

exon

exon/splice-site

translocation

287

160

high

ENSG00000226049.3

ENSG00000260404.3

ENST00000530992.1

ENST00000567913.2

upstream

duplicates(20),mismatches(2)

TTATTAAGAGCCAaCTGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACaATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAA|GATGATGATTATTCCCCACCTTCTAAGAGACAAAGACCAACGAGCCACCACAGCCACCgGTCCCAGAACCCGCCAATGCTGGGGAA?GGAAAATGAGGGAGTTCAACTCTG___GCCCTCACAATCCAG

LH00995:48:23YTGFLT4:1:2360:24841:18081,LH00995:48:23YTGFLT4:4:1223:36952:27904,LH00995:48:23YTGFLT4:4:1223:36968:27904,LH00995:48:23YTGFLT4:4:1471:1582:15853,LH00995:48:23YTGFLT4:4:2164:33538:16974,LH00995:48:23YTGFLT4:4:2375:34031:16792,LH00995:48:23YTGFLT4:5:1485:17180:2513,LH00995:48:23YTGFLT4:8:2173:15263:3256,LH00995:48:23YTGFLT4:1:1392:39953:29431,LH00995:48:23YTGFLT4:2:1324:40981:12546,LH00995:48:23YTGFLT4:2:2275:47056:1378,LH00995:48:23YTGFLT4:2:2325:38020:2261,LH00995:48:23YTGFLT4:3:1303:13612:24218,LH00995:48:23YTGFLT4:3:2134:38530:26096,LH00995:48:23YTGFLT4:4:2163:2262:18571,LH00995:48:23YTGFLT4:4:2418:36580:14620,LH00995:48:23YTGFLT4:6:1302:26289:3046,LH00995:48:23YTGFLT4:6:2226:45042:3522,LH00995:48:23YTGFLT4:6:2298:11833:28758,LH00995:48:23YTGFLT4:6:2395:7731:3410,LH00995:48:23YTGFLT4:7:1119:51983:14592,LH00995:48:23YTGFLT4:7:1119:51999:14592,LH00995:48:23YTGFLT4:7:1119:52016:14592,LH00995:48:23YTGFLT4:7:1492:22519:18431,LH00995:48:23YTGFLT4:7:1492:22536:18431,LH00995:48:23YTGFLT4:8:1116:10069:5498,LH00995:48:23YTGFLT4:8:1420:23175:28730,LH00995:48:23YTGFLT4:8:1427:3937:25592

RPL23AP53

SEPTIN14

-/-

chr8:232129

chr7:55796092

exon/splice-site

CDS/splice-site

translocation

184

high

ENSG00000223508.5

ENSG00000154997.9

ENST00000606507.1

ENST00000388975.4

upstream

downstream

AGTGTCTCCGCCGGTTGAAAGCGCGTGTCTGCGTCGGGTTCTGTTGGAGTGCGTTCGGTGTGCCGTGGGTCCGCGCTGCTTCCACCCAACTTCCTGTTAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAA

LH00995:48:23YTGFLT4:4:1237:42243:5484,LH00995:48:23YTGFLT4:6:2314:48140:5218,LH00995:48:23YTGFLT4:1:1307:4827:18641,LH00995:48:23YTGFLT4:2:2359:43303:2836

AP001347.1

ANKRD20A11P

+/+

-/-

chr21:14027597

chr21:13970110

exon/splice-site

inversion

100

high

ENSG00000224905.7

ENSG00000215559.8

ENST00000428809.5

ENST00000451663.5

downstream

mismatches(1)

GCTTCATTGCCTTGTGTCCTCTGCTCCGGGAGACTTCGGTGATTCTGCCACTCCCTCCGTCGCTCTGTGACCTGCTGGCATTGAATGATTTATAGCTAAGACTCCAGGACACCCCTGAAGCCGAGAAATG|AACAGCCCTCATGCTTGCTGTGCACTATGACTCACCGGGTATTGTCAACATCCTTCTTAAGCAAAATATTAATGTCTTTACTCAAGACATGTATGGACAAGATGCAGAAGATTACG

LH00995:48:23YTGFLT4:3:1221:51951:13835,LH00995:48:23YTGFLT4:2:1398:28894:12238,LH00995:48:23YTGFLT4:3:2392:2108:20407,LH00995:48:23YTGFLT4:7:1350:32454:12238

AP001347.1

ANKRD20A11P

+/+

-/-

chr21:14027597

chr21:13951260

exon/splice-site

inversion

100

low

ENSG00000224905.7

ENSG00000215559.8

ENST00000428809.5

ENST00000451663.5

downstream

CGGGGTTAGGGCTTCATTGCCTTGTGTCCTCTGCTCCGGGAGACTTCGGTGATTCTGCCACTCCCTCCGTCGCTCTGTGACCTGCTGGCATTGAATGATTTATAGCTAAGACTCtAGGACACCCCTGAAGCCGAGAAATG|GACCTCCTGCAAAACATCCTTCCTTGAAG

LH00995:48:23YTGFLT4:6:1340:24202:24344

PRUNE2

-/-

chr9:76709219

chr9:76709230

CDS

duplication/ITD

165

1746

1669

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(667),low_entropy(1)

CCACCTCAGACTCTTACACATCACCAACATTTGCTGGAGACGAAAAGGAAACTGAACACAAGCCATTTGCTAAAGAGGAAGGTTTTGAGTCAAAAGATGGTAACTCCAtGGCAGAGGAGACTGACATTCCTCCTCAGTCACTGCAACAGTCA|c|TGCAACAGTCATCTCGAAATCGAATCAGTTCAGGTCCTGGGAACCTAGACATGTGGGCTTCACCTCATACAGATAACAGTTCTGAAATAAATACCACTCACAACCTGGA

TSDSYTSPTFAGDEKETEHKPFAKEEGFESKDGNSmAEETDIPPQSLQQS|lQQSSRNRISSGPGNLDMWASPHTDNSSEINTTHNL

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SAFB2

-/-

chr19:5593916

chr19:5593933

CDS

duplication/ITD

2277

1946

medium

in-frame

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

ENSG00000130254.12

ENST00000252542.9

upstream

downstream

duplicates(586),low_entropy(10),mismappers(1)

GCGGGAGCGGCTGGAGCGCGAGCGCATGCGCGTGGAGCGTGAGCGCAGGAAGGAGCAGGAGCGCATCCACCGCGAGCGCGAGGAGCTGCGGCGCCAGCAGGAGCAGCTGCGTTACGAGCAGGAGCGGCGGCCCG|AGCAGGAGCGGCGGCCCGGGCGGAGGCCCTACGACCTGGACCG___ACGAGATGATGCCTATTGGCCAGAAGGAAAGCGTGTGGCAATG

RERLERERMRVERERRKEQERIHREREELRRQQEQLRYEQERRP|eQERRPGRRPYDLDRRDDAYWPEGKRVA

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ARHGEF35

-/-

chr7:144188356

chr7:144188377

CDS

duplication/ITD

897

1033

medium

out-of-frame

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

ENSG00000213214.5

ENST00000378115.3

upstream

downstream

duplicates(211),low_entropy(4)

TCTGGGGACTGCGGCCGGCGCCGGGACCTGGAGGGGACGCTGGGGCCGAAGCAGCATGTGACACCGACCAG___GATTCAGCCCTGATGGAGGCTGAGGAGGCCCAGCgTGGAG|GCTGAGGAGGCCCAGCgTGGAGCCTCTCCTCCCATCTCTGCCATAGAGGAATTCAGCATTATCCCTGAGGCTCCCATGAGGAGCAGCCAGGTCTCTGCCTTGGGGCTTGAAGCTCAAGAAGATGA

MEAEEAQrG|g*

LH00995:48:23YTGFLT4:2:2211:15837:16806,LH00995:48:23YTGFLT4:2:2211:15837:16806,LH00995:48:23YTGFLT4:6:1286:9203:15068,LH00995:48:23YTGFLT4:6:1286:9203:15068,LH00995:48:23YTGFLT4:1:1108:20554:14270,LH00995:48:23YTGFLT4:1:1108:20554:14270,LH00995:48:23YTGFLT4:1:1109:5369:2345,LH00995:48:23YTGFLT4:1:1122:1307:6185,LH00995:48:23YTGFLT4:1:1122:1307:6185,LH00995:48:23YTGFLT4:1:1148:34363:27623,LH00995:48:23YTGFLT4:1:1152:1202:12336,LH00995:48:23YTGFLT4:1:1152:1202:12336,LH00995:48:23YTGFLT4:1:1156:46110:13499,LH00995:48:23YTGFLT4:1:1156:46110:13499,LH00995:48:23YTGFLT4:1:1169:50972:19286,LH00995:48:23YTGFLT4:1:1169:50972:19286,LH00995:48:23YTGFLT4:1:1169:50988:19286,LH00995:48:23YTGFLT4:1:1169:50988:19286,LH00995:48:23YTGFLT4:1:1172:10368:25970,LH00995:48:23YTGFLT4:1:1189:44985:26965,LH00995:48:23YTGFLT4:1:1189:44985:26965,LH00995:48:23YTGFLT4:1:1215:50139:7586,LH00995:48:23YTGFLT4:1:1215:50139:7586,LH00995:48:23YTGFLT4:1:1238:7351:7600,LH00995:48:23YTGFLT4:1:1238:7351:7600,LH00995:48:23YTGFLT4:1:1238:7359:7614,LH00995:48:23YTGFLT4:1:1238:7359:7614,LH00995:48:23YTGFLT4:1:1279:23790:16792,LH00995:48:23YTGFLT4:1:1279:23790:16792,LH00995:48:23YTGFLT4:1:1347:20699:19931,LH00995:48:23YTGFLT4:1:1347:20699:19931,LH00995:48:23YTGFLT4:1:1349:19291:5246,LH00995:48:23YTGFLT4:1:1349:19291:5246,LH00995:48:23YTGFLT4:1:1351:18216:17422,LH00995:48:23YTGFLT4:1:1351:18216:17422,LH00995:48:23YTGFLT4:1:1361:4940:29263,LH00995:48:23YTGFLT4:1:1361:4940:29263,LH00995:48:23YTGFLT4:1:1362:38149:29697,LH00995:48:23YTGFLT4:1:1362:38149:29697,LH00995:48:23YTGFLT4:1:1386:33918:21472,LH00995:48:23YTGFLT4:1:1386:33918:21472,LH00995:48:23YTGFLT4:1:1394:41531:7306,LH00995:48:23YTGFLT4:1:1394:41531:7306,LH00995:48:23YTGFLT4:1:1404:20060:16974,LH00995:48:23YTGFLT4:1:1404:20060:16974,LH00995:48:23YTGFLT4:1:1417:51514:9912,LH00995:48:23YTGFLT4:1:1452:4131:8384,LH00995:48:23YTGFLT4:1:1452:4131:8384,LH00995:48:23YTGFLT4:1:1455:49386:29067,LH00995:48:23YTGFLT4:1:1455:49386:29067,LH00995:48:23YTGFLT4:1:1468:5749:22453,LH00995:48:23YTGFLT4:1:1495:43003:23055,LH00995:48:23YTGFLT4:1:1495:43003:23055,LH00995:48:23YTGFLT4:1:2145:13531:22032,LH00995:48:23YTGFLT4:1:2145:13531:22032,LH00995:48:23YTGFLT4:1:2150:13394:29585,LH00995:48:23YTGFLT4:1:2150:13394:29585,LH00995:48:23YTGFLT4:1:2155:20028:21906,LH00995:48:23YTGFLT4:1:2155:20028:21906,LH00995:48:23YTGFLT4:1:2232:31572:4937,LH00995:48:23YTGFLT4:1:2232:31572:4937,LH00995:48:23YTGFLT4:1:2247:49783:4363,LH00995:48:23YTGFLT4:1:2254:17309:11089,LH00995:48:23YTGFLT4:1:2254:17309:11089,LH00995:48:23YTGFLT4:1:2278:49200:2709,LH00995:48:23YTGFLT4:1:2278:49200:2709,LH00995:48:23YTGFLT4:1:2313:22487:8931,LH00995:48:23YTGFLT4:1:2323:13523:24541,LH00995:48:23YTGFLT4:1:2323:13523:24541,LH00995:48:23YTGFLT4:1:2327:8419:5162,LH00995:48:23YTGFLT4:1:2327:8419:5162,LH00995:48:23YTGFLT4:1:2328:27519:2541,LH00995:48:23YTGFLT4:1:2328:27519:2541,LH00995:48:23YTGFLT4:1:2328:27527:2527,LH00995:48:23YTGFLT4:1:2328:27527:2527,LH00995:48:23YTGFLT4:1:2332:27446:28674,LH00995:48:23YTGFLT4:1:2332:27446:28674,LH00995:48:23YTGFLT4:1:2366:22633:6493,LH00995:48:23YTGFLT4:1:2375:26192:20813,LH00995:48:23YTGFLT4:1:2375:26192:20813,LH00995:48:23YTGFLT4:1:2376:46328:11860,LH00995:48:23YTGFLT4:1:2376:46328:11860,LH00995:48:23YTGFLT4:1:2391:48577:28282,LH00995:48:23YTGFLT4:1:2391:48577:28282,LH00995:48:23YTGFLT4:1:2392:22026:14578,LH00995:48:23YTGFLT4:1:2392:22026:14578,LH00995:48:23YTGFLT4:1:2402:38869:25199,LH00995:48:23YTGFLT4:1:2402:38869:25199,LH00995:48:23YTGFLT4:1:2448:36361:6030,LH00995:48:23YTGFLT4:1:2487:51676:24288,LH00995:48:23YTGFLT4:1:2491:18240:28786,LH00995:48:23YTGFLT4:1:2491:18240:28786,LH00995:48:23YTGFLT4:1:2496:49686:9660,LH00995:48:23YTGFLT4:1:2496:49686:9660,LH00995:48:23YTGFLT4:2:1112:48917:10542,LH00995:48:23YTGFLT4:2:1112:48917:10542,LH00995:48:23YTGFLT4:2:1130:47275:19356,LH00995:48:23YTGFLT4:2:1130:47275:19356,LH00995:48:23YTGFLT4:2:1132:14583:20099,LH00995:48:23YTGFLT4:2:1132:14583:20099,LH00995:48:23YTGFLT4:2:1132:14599:20099,LH00995:48:23YTGFLT4:2:1132:14599:20099,LH00995:48:23YTGFLT4:2:1170:4867:9183,LH00995:48:23YTGFLT4:2:1170:4867:9183,LH00995:48:23YTGFLT4:2:1181:24453:22173,LH00995:48:23YTGFLT4:2:1185:11557:29431,LH00995:48:23YTGFLT4:2:1185:11557:29431,LH00995:48:23YTGFLT4:2:1186:6178:11509,LH00995:48:23YTGFLT4:2:1186:6178:11509,LH00995:48:23YTGFLT4:2:1224:49637:26586,LH00995:48:23YTGFLT4:2:1224:49637:26586,LH00995:48:23YTGFLT4:2:1224:49653:26586,LH00995:48:23YTGFLT4:2:1224:49653:26586,LH00995:48:23YTGFLT4:2:1236:4956:1322,LH00995:48:23YTGFLT4:2:1271:3767:17955,LH00995:48:23YTGFLT4:2:1271:3767:17955,LH00995:48:23YTGFLT4:2:1332:41976:13625,LH00995:48:23YTGFLT4:2:1332:41976:13625,LH00995:48:23YTGFLT4:2:1350:2650:2457,LH00995:48:23YTGFLT4:2:1350:2650:2457,LH00995:48:23YTGFLT4:2:1352:36103:9842,LH00995:48:23YTGFLT4:2:1352:36103:9842,LH00995:48:23YTGFLT4:2:1386:2400:19650,LH00995:48:23YTGFLT4:2:1386:2400:19650,LH00995:48:23YTGFLT4:2:1387:19219:28884,LH00995:48:23YTGFLT4:2:1387:19219:28884,LH00995:48:23YTGFLT4:2:1405: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KIF7

-/-

chr15:89648387

chr15:89648389

CDS

duplication/ITD

145

144

medium

in-frame

Kinesin_motor_domain(100%)|

ENSG00000166813.16

ENST00000394412.8

upstream

downstream

duplicates(33)

AGGCCCAGCCACCaCCTCCGCGGCGGCCGCCATGCGCCTGGGCGCCGAGTGCGCGCGCTACCGGGCCTGCACCGACGCCGCCTACAGCCTCTTGCGCGAGCTGCAGGCCGAGCCCGGGCTGCCCGGCGCCGCCGCC|GCCCGCAAGGTGCGCGACTGGCTGTGCGCCGTCGAGGGCGAGCGCAGCGCCCTGAGCTCCGCCTCCGGGCCCGATAGCGGCATCGAGAGCGCCTCCGTCGAGGACCAGGCGGCGCAGGGGGCCG

GPATtSAAAAMRLGAECARYRACTDAAYSLLRELQAEPGLPGAAA|ARKVRDWLCAVEGERSALSSASGPDSGIESASVEDQAAQGA

LH00995:48:23YTGFLT4:1:1213:11889:20897,LH00995:48:23YTGFLT4:1:1296:36329:3676,LH00995:48:23YTGFLT4:1:1332:21168:20239,LH00995:48:23YTGFLT4:1:2377:21557:14746,LH00995:48:23YTGFLT4:1:2384:18021:26194,LH00995:48:23YTGFLT4:1:2384:18029:26208,LH00995:48:23YTGFLT4:2:1491:27171:24499,LH00995:48:23YTGFLT4:3:1244:21055:19342,LH00995:48:23YTGFLT4:4:1161:25165:27609,LH00995:48:23YTGFLT4:4:1185:47429:14690,LH00995:48:23YTGFLT4:4:1341:14680:28198,LH00995:48:23YTGFLT4:4:1469:46668:12952,LH00995:48:23YTGFLT4:5:1360:20715:3985,LH00995:48:23YTGFLT4:5:1381:9025:4895,LH00995:48:23YTGFLT4:5:2131:17609:22621,LH00995:48:23YTGFLT4:5:2247:1995:19090,LH00995:48:23YTGFLT4:5:2301:32794:27315,LH00995:48:23YTGFLT4:5:2334:40188:12378,LH00995:48:23YTGFLT4:5:2371:3508:14844,LH00995:48:23YTGFLT4:5:2475:6695:13723,LH00995:48:23YTGFLT4:6:2377:46684:6955,LH00995:48:23YTGFLT4:8:1152:39104:13163,LH00995:48:23YTGFLT4:8:1465:36539:14466,LH00995:48:23YTGFLT4:8:1480:31782:6535,LH00995:48:23YTGFLT4:8:2137:25990:17212,LH00995:48:23YTGFLT4:8:2137:50220:13415,LH00995:48:23YTGFLT4:8:2256:16120:23322,LH00995:48:23YTGFLT4:8:2366:48488:15180,LH00995:48:23YTGFLT4:8:2378:1631:8455,LH00995:48:23YTGFLT4:1:1170:40641:19468,LH00995:48:23YTGFLT4:1:1451:39638:5624,LH00995:48:23YTGFLT4:2:1150:1372:25101,LH00995:48:23YTGFLT4:2:1257:18143:9646,LH00995:48:23YTGFLT4:3:2184:25812:16147,LH00995:48:23YTGFLT4:3:2310:50381:4559,LH00995:48:23YTGFLT4:4:1176:22754:7992,LH00995:48:23YTGFLT4:4:1354:51749:3144,LH00995:48:23YTGFLT4:4:1466:10603:16876,LH00995:48:23YTGFLT4:4:2270:14510:8595,LH00995:48:23YTGFLT4:4:2345:45568:13933,LH00995:48:23YTGFLT4:4:2431:39452:3144,LH00995:48:23YTGFLT4:5:1142:49839:5582,LH00995:48:23YTGFLT4:6:1348:21629:6185,LH00995:48:23YTGFLT4:6:2145:11598:23055,LH00995:48:23YTGFLT4:6:2189:9786:13639,LH00995:48:23YTGFLT4:6:2309:42542:15867,LH00995:48:23YTGFLT4:6:2361:47736:3088,LH00995:48:23YTGFLT4:7:1480:50317:26390,LH00995:48:23YTGFLT4:7:2106:8532:12168,LH00995:48:23YTGFLT4:7:2251:45171:1336,LH00995:48:23YTGFLT4:8:1336:49572:19636,LH00995:48:23YTGFLT4:8:2397:49945:12966,LH00995:48:23YTGFLT4:8:2434:42299:23658

DMBT1

+/+

chr10:122597059

chr10:122597042

intron

CDS

duplication/ITD

386

medium

Scavenger_receptor_cysteine-rich_domain(46%)|CUB_domain(100%),Scavenger_receptor_cysteine-rich_domain(53%),Zona_pellucida-like_domain(100%)

ENSG00000187908.20

ENST00000344338.7

downstream

upstream

duplicates(94)

GGTCGACGCCCAGgCCAG___...|AgGCCCAGgCCAG___ACACATTGCCGACCATCACCTTGCCTGCATCGACAGTAG___GATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCAAGGCTCCTGGGGCACCGTGTGCGATGACAGCTGGGACACC

LH00995:48:23YTGFLT4:1:1161:5967:28548,LH00995:48:23YTGFLT4:1:1161:5967:28548,LH00995:48:23YTGFLT4:1:1161:5967:28548,LH00995:48:23YTGFLT4:1:1161:5967:28548,LH00995:48:23YTGFLT4:2:1124:39371:13457,LH00995:48:23YTGFLT4:2:1124:39371:13457,LH00995:48:23YTGFLT4:2:1124:39371:13457,LH00995:48:23YTGFLT4:2:1124:39371:13457,LH00995:48:23YTGFLT4:2:1228:37809:10024,LH00995:48:23YTGFLT4:2:1228:37809:10024,LH00995:48:23YTGFLT4:2:1228:37809:10024,LH00995:48:23YTGFLT4:2:1228:37809:10024,LH00995:48:23YTGFLT4:2:1228:37826:10024,LH00995:48:23YTGFLT4:2:1228:37826:10024,LH00995:48:23YTGFLT4:2:1228:37826:10024,LH00995:48:23YTGFLT4:2:1228:37826:10024,LH00995:48:23YTGFLT4:2:1253:39929:28856,LH00995:48:23YTGFLT4:2:1253:39929:28856,LH00995:48:23YTGFLT4:2:1253:39929:28856,LH00995:48:23YTGFLT4:2:1253:39929:28856,LH00995:48:23YTGFLT4:2:1253:39929:28856,LH00995:48:23YTGFLT4:2:1253:39929:28856,LH00995:48:23YTGFLT4:2:1253:39929:28856,LH00995:48:23YTGFLT4:2:1253:39929:28856,LH00995:48:23YTGFLT4:2:1275:48852:15363,LH00995:48:23YTGFLT4:2:1275:48852:15363,LH00995:48:23YTGFLT4:2:1275:48852:15363,LH00995:48:23YTGFLT4:2:1275:48852:15363,LH00995:48:23YTGFLT4:2:1275:48852:15363,LH00995:48:23YTGFLT4:2:1275:48852:15363,LH00995:48:23YTGFLT4:2:1275:48852:15363,LH00995:48:23YTGFLT4:2:1275:48852:15363,LH00995:48:23YTGFLT4:2:2151:20238:27427,LH00995:48:23YTGFLT4:2:2151:20238:27427,LH00995:48:23YTGFLT4:2:2151:20238:27427,LH00995:48:23YTGFLT4:2:2151:20238:27427,LH00995:48:23YTGFLT4:2:2228:39970:5414,LH00995:48:23YTGFLT4:2:2228:39970:5414,LH00995:48:23YTGFLT4:2:2228:39970:5414,LH00995:48:23YTGFLT4:2:2228:39970:5414,LH00995:48:23YTGFLT4:3:2333:44605:5400,LH00995:48:23YTGFLT4:3:2333:44605:5400,LH00995:48:23YTGFLT4:3:2333:44605:5400,LH00995:48:23YTGFLT4:3:2333:44605:5400,LH00995:48:23YTGFLT4:3:2333:44605:5400,LH00995:48:23YTGFLT4:3:2333:44605:5400,LH00995:48:23YTGFLT4:3:2333:44605:5400,LH00995:48:23YTGFLT4:3:2333:44605:5400,LH00995:48:23YTGFLT4:4:1221:3743:28758,LH00995:48:23YTGFLT4:4:1221:3743:28758,LH00995:48:23YTGFLT4:4:1221:3743:28758,LH00995:48:23YTGFLT4:4:1221:3743:28758,LH00995:48:23YTGFLT4:4:2337:36054:26068,LH00995:48:23YTGFLT4:4:2337:36054:26068,LH00995:48:23YTGFLT4:4:2337:36054:26068,LH00995:48:23YTGFLT4:4:2337:36054:26068,LH00995:48:23YTGFLT4:4:2337:36054:26068,LH00995:48:23YTGFLT4:4:2337:36054:26068,LH00995:48:23YTGFLT4:4:2337:36054:26068,LH00995:48:23YTGFLT4:4:2337:36054:26068,LH00995:48:23YTGFLT4:4:2440:44896:22187,LH00995:48:23YTGFLT4:4:2440:44896:22187,LH00995:48:23YTGFLT4:4:2440:44896:22187,LH00995:48:23YTGFLT4:4:2440:44896:22187,LH00995:48:23YTGFLT4:4:2440:44896:22187,LH00995:48:23YTGFLT4:4:2440:44896:22187,LH00995:48:23YTGFLT4:4:2440:44896:22187,LH00995:48:23YTGFLT4:4:2440:44896:22187,LH00995:48:23YTGFLT4:7:1229:17795:5120,LH00995:48:23YTGFLT4:7:1229:17795:5120,LH00995:48:23YTGFLT4:7:1229:17795:5120,LH00995:48:23YTGFLT4:7:1229:17795:5120,LH00995:48:23YTGFLT4:7:2453:13984:2079,LH00995:48:23YTGFLT4:7:2453:13984:2079,LH00995:48:23YTGFLT4:7:2453:13984:2079,LH00995:48:23YTGFLT4:7:2453:13984:2079,LH00995:48:23YTGFLT4:7:2453:13984:2079,LH00995:48:23YTGFLT4:7:2453:13984:2079,LH00995:48:23YTGFLT4:7:2453:13984:2079,LH00995:48:23YTGFLT4:7:2453:13984:2079,LH00995:48:23YTGFLT4:8:1330:45325:2219,LH00995:48:23YTGFLT4:8:1330:45325:2219,LH00995:48:23YTGFLT4:8:1330:45325:2219,LH00995:48:23YTGFLT4:8:1330:45325:2219,LH00995:48:23YTGFLT4:1:1335:32041:22509,LH00995:48:23YTGFLT4:1:1335:32041:22509,LH00995:48:23YTGFLT4:7:1292:19380:15741,LH00995:48:23YTGFLT4:7:1292:19380:15741,LH00995:48:23YTGFLT4:3:1109:24882:21626,LH00995:48:23YTGFLT4:3:1109:24882:21626,LH00995:48:23YTGFLT4:3:1109:24882:21626,LH00995:48:23YTGFLT4:3:1109:24882:21626,LH00995:48:23YTGFLT4:3:1109:24882:21626,LH00995:48:23YTGFLT4:6:2485:50131:1322,LH00995:48:23YTGFLT4:6:2485:50131:1322,LH00995:48:23YTGFLT4:6:2485:50131:1322,LH00995:48:23YTGFLT4:6:2485:50131:1322,LH00995:48:23YTGFLT4:6:2485:50131:1322,LH00995:48:23YTGFLT4:3:2363:33587:24877,LH00995:48:23YTGFLT4:3:2363:33587:24877,LH00995:48:23YTGFLT4:3:2363:33587:24877,LH00995:48:23YTGFLT4:3:2363:33587:24877,LH00995:48:23YTGFLT4:3:2363:33587:24877,LH00995:48:23YTGFLT4:8:1135:3500:26685,LH00995:48:23YTGFLT4:8:1135:3500:26685,LH00995:48:23YTGFLT4:8:1135:3500:26685,LH00995:48:23YTGFLT4:8:1135:3500:26685,LH00995:48:23YTGFLT4:8:1135:3500:26685

ZNF814

-/+

chr19:57874584

chr19:57874502

CDS

duplication/ITD

173

176

medium

ENSG00000204514.10

downstream

upstream

duplicates(72),homopolymer(1)

TTCATGTTTTTTTTCAGTGTGAACTCTCTGATGATTACTGAAGCTAACATATTTGCTAAAGGATTTCCCACATTCTCCACATTCAT|a|ATGTTTTTTTTCAGTGTGAACTCTCTGATGATTACTGAAGCTAACATATTTGCTAAAGGATTTCCCACATTCTCCACATTCATGTTTTTTTTCAGTGTGAACTCTCTGATGATTACTCAAGCTAGCATATTTGCTAAAGGACTTCCCACATTCACAGC

LH00995:48:23YTGFLT4:1:2188:14777:6703,LH00995:48:23YTGFLT4:1:2188:14777:6703,LH00995:48:23YTGFLT4:2:2175:18499:11355,LH00995:48:23YTGFLT4:2:2175:18499:11355,LH00995:48:23YTGFLT4:3:2415:46668:25760,LH00995:48:23YTGFLT4:3:2415:46668:25760,LH00995:48:23YTGFLT4:4:1463:23369:9702,LH00995:48:23YTGFLT4:4:1463:23369:9702,LH00995:48:23YTGFLT4:4:2144:26783:29207,LH00995:48:23YTGFLT4:4:2144:26783:29207,LH00995:48:23YTGFLT4:4:2149:5102:22705,LH00995:48:23YTGFLT4:4:2201:21468:8202,LH00995:48:23YTGFLT4:4:2201:21468:8202,LH00995:48:23YTGFLT4:5:1469:10619:16792,LH00995:48:23YTGFLT4:5:1469:10619:16792,LH00995:48:23YTGFLT4:5:2422:26920:13331,LH00995:48:23YTGFLT4:5:2422:26937:13331,LH00995:48:23YTGFLT4:5:2425:11347:5274,LH00995:48:23YTGFLT4:5:2425:11347:5274,LH00995:48:23YTGFLT4:6:1103:27171:2387,LH00995:48:23YTGFLT4:6:1103:27171:2387,LH00995:48:23YTGFLT4:6:2103:28304:5050,LH00995:48:23YTGFLT4:6:2103:28304:5050,LH00995:48:23YTGFLT4:6:2241:23838:14774,LH00995:48:23YTGFLT4:6:2241:23838:14774,LH00995:48:23YTGFLT4:6:2259:38473:13639,LH00995:48:23YTGFLT4:6:2259:38473:13639,LH00995:48:23YTGFLT4:6:2451:5352:14172,LH00995:48:23YTGFLT4:7:1148:43076:25564,LH00995:48:23YTGFLT4:7:1148:43076:25564,LH00995:48:23YTGFLT4:8:1263:22212:27035,LH00995:48:23YTGFLT4:8:1263:22212:27035,LH00995:48:23YTGFLT4:8:1374:38441:20169,LH00995:48:23YTGFLT4:8:1374:38441:20169,LH00995:48:23YTGFLT4:8:2312:18224:1855,LH00995:48:23YTGFLT4:4:2149:5102:22705,LH00995:48:23YTGFLT4:5:2422:26920:13331,LH00995:48:23YTGFLT4:5:2422:26937:13331,LH00995:48:23YTGFLT4:6:2451:5352:14172,LH00995:48:23YTGFLT4:8:1350:4632:28842,LH00995:48:23YTGFLT4:8:2312:18224:1855,LH00995:48:23YTGFLT4:1:1304:21686:2051,LH00995:48:23YTGFLT4:1:2188:14777:6703,LH00995:48:23YTGFLT4:2:2220:11913:13233,LH00995:48:23YTGFLT4:2:2220:11930:13233,LH00995:48:23YTGFLT4:3:2415:46668:25760,LH00995:48:23YTGFLT4:4:1463:23369:9702,LH00995:48:23YTGFLT4:4:2144:26783:29207,LH00995:48:23YTGFLT4:4:2201:21468:8202,LH00995:48:23YTGFLT4:5:1469:10619:16792,LH00995:48:23YTGFLT4:5:2425:11347:5274,LH00995:48:23YTGFLT4:6:1103:27171:2387,LH00995:48:23YTGFLT4:6:2103:28304:5050,LH00995:48:23YTGFLT4:6:2241:23838:14774,LH00995:48:23YTGFLT4:6:2259:38473:13639,LH00995:48:23YTGFLT4:8:1374:38441:20169,LH00995:48:23YTGFLT4:1:1197:28498:23546,LH00995:48:23YTGFLT4:1:1304:21686:2051,LH00995:48:23YTGFLT4:1:1304:21686:2051,LH00995:48:23YTGFLT4:1:1373:42801:2639,LH00995:48:23YTGFLT4:2:2220:11913:13233,LH00995:48:23YTGFLT4:2:2220:11913:13233,LH00995:48:23YTGFLT4:2:2220:11930:13233,LH00995:48:23YTGFLT4:2:2220:11930:13233,LH00995:48:23YTGFLT4:3:1212:1388:1757,LH00995:48:23YTGFLT4:3:1417:32591:2724,LH00995:48:23YTGFLT4:3:2392:29040:21878,LH00995:48:23YTGFLT4:3:2392:29048:21864,LH00995:48:23YTGFLT4:6:2485:1356:26166,LH00995:48:23YTGFLT4:7:2425:4471:2780,LH00995:48:23YTGFLT4:1:1197:28498:23546,LH00995:48:23YTGFLT4:1:1197:28498:23546,LH00995:48:23YTGFLT4:1:1373:42801:2639,LH00995:48:23YTGFLT4:2:2133:25294:12252,LH00995:48:23YTGFLT4:3:1212:1388:1757,LH00995:48:23YTGFLT4:3:1417:32591:2724,LH00995:48:23YTGFLT4:3:1417:32591:2724,LH00995:48:23YTGFLT4:3:2392:29040:21878,LH00995:48:23YTGFLT4:3:2392:29048:21864,LH00995:48:23YTGFLT4:6:1316:15060:15937,LH00995:48:23YTGFLT4:6:1316:9203:9015,LH00995:48:23YTGFLT4:6:2485:1356:26166,LH00995:48:23YTGFLT4:7:2425:4471:2780,LH00995:48:23YTGFLT4:8:1350:4641:28828,LH00995:48:23YTGFLT4:7:2264:38764:15152,LH00995:48:23YTGFLT4:7:2264:38764:15152

SOWAHA

+/+

chr5:132813647

chr5:132813639

CDS

duplication/ITD

137

medium

in-frame

|Ankyrin_repeats_(3_copies)(100%)

ENSG00000198944.6

ENST00000378693.4

downstream

upstream

duplicates(16)

CCTtCCGGAACCCCGCTCCCGCGCGTCCCGCGGCGACGCGGCGCCCACCCGCCCCGGGAGCCAGGAACCCAGGGCCCCACCATGGCGCTGGCCGCCGCCGCCGCCGC|CGCCGCCGCTGCGGCTGCCGGGGTGAGCCAGGCGGCGGTGCTGGGCTTCCTGCAGGAGCACGGCGGGAAGGTGCGCAACTCCGAGCTGCTGAGCCGCTTCAAGCCGCT

MALAAAAAa|AAAAAAGVSQAAVLGFLQEHGGKVRNSELLSRFKP

LH00995:48:23YTGFLT4:1:2108:3645:13653,LH00995:48:23YTGFLT4:1:2139:50559:12938,LH00995:48:23YTGFLT4:2:2171:26184:10374,LH00995:48:23YTGFLT4:4:1120:16929:11299,LH00995:48:23YTGFLT4:4:1134:46571:2443,LH00995:48:23YTGFLT4:4:2120:20869:4335,LH00995:48:23YTGFLT4:5:2116:22155:8609,LH00995:48:23YTGFLT4:5:2304:49467:17661,LH00995:48:23YTGFLT4:5:2315:9915:22046,LH00995:48:23YTGFLT4:6:2244:26144:26671,LH00995:48:23YTGFLT4:7:1162:19251:9211,LH00995:48:23YTGFLT4:1:2108:3645:13653,LH00995:48:23YTGFLT4:1:2139:50559:12938,LH00995:48:23YTGFLT4:1:2254:4948:10500,LH00995:48:23YTGFLT4:1:2254:4948:10500,LH00995:48:23YTGFLT4:1:2346:13912:27175,LH00995:48:23YTGFLT4:1:2346:13912:27175,LH00995:48:23YTGFLT4:2:2171:26184:10374,LH00995:48:23YTGFLT4:3:2182:11970:18207,LH00995:48:23YTGFLT4:3:2182:11970:18207,LH00995:48:23YTGFLT4:4:1120:16929:11299,LH00995:48:23YTGFLT4:4:1134:46571:2443,LH00995:48:23YTGFLT4:4:2120:20869:4335,LH00995:48:23YTGFLT4:5:2116:22155:8609,LH00995:48:23YTGFLT4:5:2304:49467:17661,LH00995:48:23YTGFLT4:5:2315:9915:22046,LH00995:48:23YTGFLT4:6:2244:26144:26671,LH00995:48:23YTGFLT4:7:1162:19251:9211

MPND

+/+

chr19:4343662

chr19:4343647

CDS

duplication/ITD

126

162

medium

|JAB1/Mov34/MPN/PAD-1_ubiquitin_protease(100%),Prokaryotic_homologs_of_the_JAB_domain(100%),Restriction_Enzyme_Adenine_Methylase_Associated(100%)

ENSG00000008382.16

ENST00000596722.5

downstream

upstream

duplicates(27),mismappers(1)

CAGCGGGGCGGAGGCGCGGGGCGCGGGGCTGCAGGGGCGCGGGGCTGCAG|GGGCGCGGGGCTGCAGAGCCGTGGGGCGAGCGGCCTCCCTGCAGCCTCTCGCTGTCCGCAGCTCCGGAGCCGCTGTCCCCGGCGGGCGGTGCGGGCGAGGAGGCGCCGGAGG

LH00995:48:23YTGFLT4:1:1282:19914:3550,LH00995:48:23YTGFLT4:1:1375:12690:13877,LH00995:48:23YTGFLT4:2:1121:18717:28660,LH00995:48:23YTGFLT4:2:2241:9931:18796,LH00995:48:23YTGFLT4:3:2308:28555:8623,LH00995:48:23YTGFLT4:4:1331:22819:27413,LH00995:48:23YTGFLT4:4:1402:2990:14732,LH00995:48:23YTGFLT4:4:1402:2990:14732,LH00995:48:23YTGFLT4:4:2101:41725:21010,LH00995:48:23YTGFLT4:4:2131:47461:24190,LH00995:48:23YTGFLT4:4:2131:47461:24190,LH00995:48:23YTGFLT4:5:2157:4171:11649,LH00995:48:23YTGFLT4:5:2157:4171:11649,LH00995:48:23YTGFLT4:5:2179:51708:11481,LH00995:48:23YTGFLT4:5:2179:51708:11481,LH00995:48:23YTGFLT4:6:1153:10384:27315,LH00995:48:23YTGFLT4:6:2154:7035:7670,LH00995:48:23YTGFLT4:7:1478:40188:12462,LH00995:48:23YTGFLT4:7:2467:16282:12336,LH00995:48:23YTGFLT4:7:2467:16282:12336,LH00995:48:23YTGFLT4:8:1116:29517:22481,LH00995:48:23YTGFLT4:8:1348:39015:6843,LH00995:48:23YTGFLT4:8:1348:39015:6843,LH00995:48:23YTGFLT4:8:1348:39031:6843,LH00995:48:23YTGFLT4:8:1348:39031:6843,LH00995:48:23YTGFLT4:8:1366:36758:21990,LH00995:48:23YTGFLT4:8:1497:24210:5022,LH00995:48:23YTGFLT4:8:1497:24210:5022,LH00995:48:23YTGFLT4:1:1282:19914:3550,LH00995:48:23YTGFLT4:1:1375:12690:13877,LH00995:48:23YTGFLT4:2:1121:18717:28660,LH00995:48:23YTGFLT4:2:2241:9931:18796,LH00995:48:23YTGFLT4:3:2308:28555:8623,LH00995:48:23YTGFLT4:4:1331:22819:27413,LH00995:48:23YTGFLT4:4:2101:41725:21010,LH00995:48:23YTGFLT4:6:1153:10384:27315,LH00995:48:23YTGFLT4:6:2154:7035:7670,LH00995:48:23YTGFLT4:7:1478:40188:12462,LH00995:48:23YTGFLT4:8:1116:29517:22481,LH00995:48:23YTGFLT4:8:1366:36758:21990

BTNL3

BTNL8

+/+

chr5:181002785

chr5:180948355

CDS/splice-site

duplication

2523

1784

medium

in-frame

Immunoglobulin_V-set_domain(100%)|SPRY-associated_domain(100%),SPRY_domain(100%)

ENSG00000168903.9

ENSG00000113303.12

ENST00000342868.7

ENST00000340184.9

downstream

upstream

duplicates(20)

GGTGCCCTGTGTGGTGTTGTCATGGGGATGATAATTGTTTTCTTCAAATCCAAAG|GGAAAATCCAGGCGGAACTGG___ACTGGAGAAGAAAGCACGGACAGGCAG___AATTGAGA...___TGGAGGTG

GALCGVVMGMIIVFFKSK|gKIQAELDWRRKHGQAel

LH00995:48:23YTGFLT4:1:1151:14818:11033,LH00995:48:23YTGFLT4:1:1385:28142:22369,LH00995:48:23YTGFLT4:2:1436:12140:17128,LH00995:48:23YTGFLT4:2:2273:28603:5736,LH00995:48:23YTGFLT4:3:1266:33918:9057,LH00995:48:23YTGFLT4:3:1380:15853:21766,LH00995:48:23YTGFLT4:3:2177:49694:23238,LH00995:48:23YTGFLT4:3:2315:21225:22831,LH00995:48:23YTGFLT4:3:2337:24453:7544,LH00995:48:23YTGFLT4:3:2487:6121:1294,LH00995:48:23YTGFLT4:4:1162:34978:28800,LH00995:48:23YTGFLT4:4:1306:38238:28058,LH00995:48:23YTGFLT4:4:1307:38279:8763,LH00995:48:23YTGFLT4:4:1428:44832:25662,LH00995:48:23YTGFLT4:4:1487:14607:4559,LH00995:48:23YTGFLT4:4:2265:47437:23672,LH00995:48:23YTGFLT4:4:2330:10959:12392,LH00995:48:23YTGFLT4:5:1185:38182:3466,LH00995:48:23YTGFLT4:5:1474:15093:25269,LH00995:48:23YTGFLT4:5:2219:28134:15881,LH00995:48:23YTGFLT4:5:2438:1817:14690,LH00995:48:23YTGFLT4:6:1327:14179:11916,LH00995:48:23YTGFLT4:6:2284:19154:16049,LH00995:48:23YTGFLT4:7:1418:47202:26965,LH00995:48:23YTGFLT4:8:1192:31621:20379,LH00995:48:23YTGFLT4:8:1292:14292:17184,LH00995:48:23YTGFLT4:8:2389:47178:28156

FBXW11

NCL

-/+

-/-

chr5:171992467

chr2:231460563

intron

CDS/splice-site

translocation/3'-3'

5886

medium

|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)

ENSG00000072803.18

ENSG00000115053.17

ENST00000322723.9

downstream

duplicates(1),mismatches(1)

GGGGGAGAGAGAGAGAGAGAGGAAGA|GCCTGTCAAAGAAGCACCTGGAAAACGAAAGAAGGAAATGGCCAAACAGAAAGCAGCTCCTGAAGCCAAGAAACAGAAAGTGGAAG___GCACAGAACCGACTACGGCTTTCAATCTCTTTGTTGGAAACCTAAACTTTAACAAATCTGCTCCTGAATTAAAA

LH00995:48:23YTGFLT4:1:1159:22333:20211,LH00995:48:23YTGFLT4:1:1327:50802:9940,LH00995:48:23YTGFLT4:2:1103:13402:19650,LH00995:48:23YTGFLT4:2:2452:42494:27357,LH00995:48:23YTGFLT4:5:1187:28627:26628,LH00995:48:23YTGFLT4:8:1371:31653:12000

PCDHGA2

PCDHGA8

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

CCAGCCCAACTATGCGGACACGCTCATCAGCCAGGAGAGCTGTGAGAAAAAGGATTTTTTATCAGCGCCTCAATCTCTACTCGAAGAAGAAAGAGAAGAAACGTTTTCTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG___CTCCCAAAATGGCGATGACACCGGCACCTGGCCCAACAACCAGTTTGACACAGAGATGCTGCAAGCCATGATCTTGGCGTCCGCCAGTG___AAGCTGCTGATGGGAGCTCCACCCTGGGAGGGGGTGCCGGCACCATGGGATTGAGC

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

LH00995:48:23YTGFLT4:7:2186:46563:21486,LH00995:48:23YTGFLT4:8:1184:17997:10150,LH00995:48:23YTGFLT4:8:1434:43513:4685,LH00995:48:23YTGFLT4:8:2205:28635:27595,LH00995:48:23YTGFLT4:1:1234:27268:3536,LH00995:48:23YTGFLT4:1:1241:18620:8679,LH00995:48:23YTGFLT4:1:2124:48739:13541,LH00995:48:23YTGFLT4:1:2260:17382:11663,LH00995:48:23YTGFLT4:2:1163:46725:19524,LH00995:48:23YTGFLT4:2:1451:49459:6325,LH00995:48:23YTGFLT4:2:1489:38352:8805,LH00995:48:23YTGFLT4:2:2159:29129:29515,LH00995:48:23YTGFLT4:2:2392:21443:20491,LH00995:48:23YTGFLT4:3:1246:45349:1645,LH00995:48:23YTGFLT4:3:1255:49386:10963,LH00995:48:23YTGFLT4:3:1439:51563:15012,LH00995:48:23YTGFLT4:3:2466:38327:3102,LH00995:48:23YTGFLT4:4:1324:29631:16792,LH00995:48:23YTGFLT4:5:1210:41401:6185,LH00995:48:23YTGFLT4:5:1307:10012:5372,LH00995:48:23YTGFLT4:5:1307:45349:26334,LH00995:48:23YTGFLT4:5:1489:11930:16259,LH00995:48:23YTGFLT4:5:1489:11938:16245,LH00995:48:23YTGFLT4:5:2153:45738:25017,LH00995:48:23YTGFLT4:5:2287:16177:9407,LH00995:48:23YTGFLT4:6:1261:45730:28142,LH00995:48:23YTGFLT4:6:2178:42421:24877,LH00995:48:23YTGFLT4:6:2359:30723:26446,LH00995:48:23YTGFLT4:7:1386:45357:13317,LH00995:48:23YTGFLT4:7:1430:25432:19973,LH00995:48:23YTGFLT4:7:2237:18329:9856,LH00995:48:23YTGFLT4:7:2303:42105:14130,LH00995:48:23YTGFLT4:8:1450:45091:5288,LH00995:48:23YTGFLT4:8:2348:13143:9141

PCDHGA2

PCDHGC3

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA2

PCDHGC5

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA2

PCDHGC4

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA6

PCDHGA8

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

LH00995:48:23YTGFLT4:1:2425:10967:22551,LH00995:48:23YTGFLT4:2:1293:21039:11103,LH00995:48:23YTGFLT4:6:1405:25213:22901,LH00995:48:23YTGFLT4:7:1180:31370:22635,LH00995:48:23YTGFLT4:7:2111:7448:14746,LH00995:48:23YTGFLT4:8:1393:6291:6885,LH00995:48:23YTGFLT4:1:2141:21079:17506,LH00995:48:23YTGFLT4:1:2372:9761:7600,LH00995:48:23YTGFLT4:2:2264:2141:16624,LH00995:48:23YTGFLT4:3:1101:35819:25998,LH00995:48:23YTGFLT4:6:1327:19963:10360,LH00995:48:23YTGFLT4:6:2185:1680:10528,LH00995:48:23YTGFLT4:7:2473:32972:19356

PCDHGA6

PCDHGC3

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA6

PCDHGC5

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA6

PCDHGC4

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA2

PCDHGB6

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA2

PCDHGB7

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA6

PCDHGB6

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA2

PCDHGA12

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA2

PCDHGA9

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA2

PCDHGA11

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA6

PCDHGB7

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA6

PCDHGA12

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA6

PCDHGA9

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA2

PCDHGA10

+/+

chr5:141341395

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(30)

QPNYADTLISQESCEKKDFLSAPQSLLEEEREETFSQ|QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGL

PCDHGA6

PCDHGA11

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

PCDHGA6

PCDHGA10

+/+

chr5:141376507

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

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(8),low_entropy(1)

CAACTATGCCGACACGCTTATCAACCAGGAGAGCTATGAGAAAAGCGAGCCTCTTCTGATAACTCAGGATTTACTTGAAACGAAAGGAGAACCCAGGCAACTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCCGGCACCAGCGG

NYADTLINQESYEKSEPLLITQDLLETKGEPRQLQ|QAPPNTDWRFSQAQRPGTS

DANCR

AGO3

+/+

chr4:52712684

chr1:35931365

exon

5'UTR

translocation

1631

medium

|Argonaute_linker_1_domain(100%),Argonaute_linker_2_domain_(100%),Mid_domain_of_argonaute(100%),N-terminal_domain_of_argonaute(100%),PAZ_domain(100%),Piwi_domain(100%)

ENSG00000226950.8

ENSG00000126070.20

ENST00000425653.2

ENST00000373191.9

downstream

upstream

duplicates(1)

GCTTTGCCCGCCTCGAGCTCCTCTGCTCCCGGCGGCCAGAACGGAGGGGTAGAGC|CGCCTCCTTGCCGCCAGTGGCGGGCTCCGTTCTCCCTCGAAGCACTCCCCCCAG

LH00995:48:23YTGFLT4:1:2474:12245:7586,LH00995:48:23YTGFLT4:2:1332:24550:17857,LH00995:48:23YTGFLT4:7:2231:28927:17394,LH00995:48:23YTGFLT4:6:2497:10579:28660

FRG1

MLLT10P1(867),5_8S_rRNA(80674)

+/+

./+

chr4:189961932

chr20:30404251

CDS/splice-site

intergenic

translocation

286

medium

out-of-frame

FRG1-like_domain(95%)|

ENSG00000109536.12

ENST00000226798.9

downstream

upstream

ATGGATTTTTGCATGAGACGCTTCTGGACAG|TCTCCCTCTGATGCCAGGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGC

GFLHETLLDs|lplmpgrswtvllpsrltatslpdspasa

LH00995:48:23YTGFLT4:3:1418:14001:27413,LH00995:48:23YTGFLT4:3:2167:10004:24246,LH00995:48:23YTGFLT4:5:1259:27317:21500

NFIC

HDLBP

+/-

-/-

chr19:3370473

chr2:241236771

intron

exon/splice-site

translocation/3'-3'

2340

medium

|KH_domain(26%)

ENSG00000141905.19

ENSG00000115677.17

ENST00000479894.1

upstream

downstream

AGAGAGAGAGAGAGAGAGGAGAACGC|AGTTCACAGTACAGAGCCAGTTGTCCAGGAGAATGGGGACGAAGCTGGGGAGGGGAGAGAGGCT

LH00995:48:23YTGFLT4:4:2279:42049:7782,LH00995:48:23YTGFLT4:5:2149:12601:3494,LH00995:48:23YTGFLT4:8:1206:23336:16540

AC004923.1

ENPP7P4

-/-

+/+

chr11:67955482

chr3:125909203

exon/splice-site

translocation

348

medium

ENSG00000254610.3

ENSG00000241278.1

ENST00000527543.2

ENST00000487446.1

upstream

duplicates(1)

GCGGCTGTTGCTGGAGGAGGGAAGCGCACAGCCCGATGACGGGGAGGACGCACCGCGGCCAGGCAGGAAGGAGACCGGCACCCAGACAGGTGGCGACGGCAGAGGA|AGAATTATAATGTGTTTCAACAAAGGCAGCCATGGC

LH00995:48:23YTGFLT4:1:1186:20465:5932,LH00995:48:23YTGFLT4:5:1304:31750:19314,LH00995:48:23YTGFLT4:5:2181:12577:28730,LH00995:48:23YTGFLT4:6:2208:35593:3130

PMS2P7

CCDC146

+/+

chr7:73013277

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

885

130

medium

ENSG00000229018.5

ENSG00000135205.15

ENST00000506558.2

ENST00000285871.5

downstream

upstream

duplicates(3)

AGAAAACCCCCTACCCCCACCCCAGAGGGACCACAGTCAGCGTGAAGCAGTTATTTTCTACGCTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG___CACACAAGAGTCAGAGGTCCAACTGCTACAGAATG

LH00995:48:23YTGFLT4:4:2102:6890:5960,LH00995:48:23YTGFLT4:5:1408:22358:25970,LH00995:48:23YTGFLT4:6:2234:6202:12952,LH00995:48:23YTGFLT4:6:2361:16112:1701,LH00995:48:23YTGFLT4:7:1388:25545:17170,LH00995:48:23YTGFLT4:8:1469:47315:3844

PMS2P7

CCDC146

+/+

chr7:73013277

chr7:77167658

exon/splice-site

5'UTR/splice-site

deletion

885

146

low

ENSG00000229018.5

ENSG00000135205.15

ENST00000506558.2

ENST00000285871.5

downstream

upstream

mismatches(1)

GGAATTTCAAAGGAATATTAAGAAG|AATCGTGAAAAATGGAAGACAGTAGCACAGACACAGAAAAAGAAGAGGAAGAGGgGAAAGATGAAAAGGATCAAGAGCCCATTTATGCCATAGTGCCCACAATTAACATTCAAGATGAGCaGTTTGTTGATTTATCTGAAACTCCA

LH00995:48:23YTGFLT4:1:1277:13726:15447

PMS2P7

CCDC146

+/+

chr7:73016417

chr7:77236947

exon/splice-site

CDS/splice-site

deletion

349

130

low

ENSG00000229018.5

ENSG00000135205.15

ENST00000506558.2

ENST00000285871.5

downstream

upstream

duplicates(6),mismatches(1)

GGCTCCCCAGCCATGCTTCCTGTACAGCCTGCAAAACT|TTACATGCTATGGGAAAACTTCCTGGAACCAGAATGGCAGCGTTAAAAGCCAAGTATACCTTGCTGCATGACGCCGTGATGAG

LH00995:48:23YTGFLT4:1:1393:5579:13443,LH00995:48:23YTGFLT4:7:1178:47550:8567,LH00995:48:23YTGFLT4:8:1274:7375:23308,LH00995:48:23YTGFLT4:8:2295:37381:20099,LH00995:48:23YTGFLT4:1:1260:49006:11789,LH00995:48:23YTGFLT4:5:1446:22536:11874,LH00995:48:23YTGFLT4:5:1464:3403:1378

AC012101.2

KHDC4

+/+

-/-

chr18:75459150

chr1:155915964

intron

CDS/splice-site

translocation

2308

medium

ENSG00000287281.1

ENSG00000132680.11

ENST00000368321.8

downstream

duplicates(1)

GCGGGGGAGAGAGAGAGAGAGAGGGAcAG|GCAGTTGATGCCTCCACCAGCCTTTCCAGTGACTGGAATAAAAACAGAGTCCGATGAAAGGAATGGGTCTGGGACCTTAACAGGGAGCCATG___ATTATCCAGCCAAGAAGATGAAAACTACA

LH00995:48:23YTGFLT4:4:2430:41369:16189,LH00995:48:23YTGFLT4:5:2107:45463:19188,LH00995:48:23YTGFLT4:5:2406:36871:22663,LH00995:48:23YTGFLT4:8:1198:14049:7404

LDAH(6895),LINC02850(29746)

ATP5F1A

./-

-/-

chr2:20830025

chr18:46089901

intergenic

CDS/splice-site

translocation

3991

medium

|ATP_synthase_alpha/beta_chain__C_terminal_domain(100%),ATP_synthase_alpha/beta_family__beta-barrel_domain(0%),ATP_synthase_alpha/beta_family__nucleotide-binding_domain(100%)

ENSG00000152234.16

ENST00000282050.6

upstream

downstream

duplicates(1)

GAGAGAGAGAGAGAGAGAGGACAGG|AGCCATTGTGGACGTTCCAGTTGGTGAGGAGCTGTTGGGTCGTGTAGTTGATGCCCTTGGTAATGCTATTGATGGAAAG___GGTCCAATTGGTTCCAAGACGCG

LH00995:48:23YTGFLT4:4:1457:15238:19216,LH00995:48:23YTGFLT4:5:1287:19591:4307,LH00995:48:23YTGFLT4:7:1140:46522:9814

LINC02261(44162),IGBP1P5(258758)

C9orf78

./+

-/-

chr4:27326387

chr9:129833518

intergenic

exon/splice-site

translocation

2459

medium

|Hepatocellular_carcinoma-associated_antigen_59(100%)

ENSG00000136819.15

ENST00000461762.5

downstream

GGGAGAGAGAGAGAGAGAGGAGACCAcTCtAGT|GGATGATCCCTTTCAGATGAAGACAGGTGGTATGGTGGATATGAAGAAACTGAAGGAAAGGGGCAAAGATAA___GATCAGTGAG

LH00995:48:23YTGFLT4:5:2451:33441:5232,LH00995:48:23YTGFLT4:7:1363:32858:17535

AC124242.3(16882),NAT1(26249)

PPIB

./-

-/-

chr8:18144228

chr15:64156145

intergenic

CDS/splice-site

translocation

5668

medium

|Cyclophilin_type_peptidyl-prolyl_cis-trans_isomerase/CLD(17%)

ENSG00000166794.6

ENST00000681658.1

upstream

downstream

AGAGAGAGAGAGAGAGAGGGCATG|GAGGTGGTGCGGAAGGTGGAGAGCACCAAGACAGACAGCCGGGATAAACCCCTGAAGGATGTGATCATCGCAGACTGCGGCAAGATCGAGGTGGAGAAG

LH00995:48:23YTGFLT4:3:2167:24493:4811,LH00995:48:23YTGFLT4:8:2370:23660:20575

AL390066.2(2346),CD58(9554)

TOX

./-

-/-

chr1:116504980

chr8:58960008

intergenic

CDS/splice-site

translocation

312

medium

|HMG_(high_mobility_group)_box(100%)

ENSG00000198846.6

ENST00000361421.2

upstream

downstream

duplicates(3)

ATTACCACTGAGCATTTACTATGTTCCAGGCCCTGTGCTAAGTGCATTGCCTGCTGCGTCTCACCCTTCAGTGGGAGTAG|TTTGACGGTGAGAACATGTATATGAGCATGACAGAGCCGAGCCAGGACTATGTGCCAGCCAGCCAG___TCCTACCCTGGTCCAAGCCTGGAAAGTGAAGACTTCAAC

LH00995:48:23YTGFLT4:1:2243:37057:3788,LH00995:48:23YTGFLT4:2:1472:41693:10781,LH00995:48:23YTGFLT4:7:2241:4535:14718,LH00995:48:23YTGFLT4:8:2120:43052:25045,LH00995:48:23YTGFLT4:8:2298:51263:17492

ZNF703

FP236383.3

+/+

chr8:37698690

chr21:8399951

3'UTR

intron

translocation

15693

11795

low

stop-codon

NocA-like_zinc-finger_protein_1(100%)|

ENSG00000183779.7

ENSG00000280441.3

ENST00000331569.6

downstream

upstream

duplicates(59),mismatches(1),multimappers(1)

TATCCACAGCGGGGGGCCTGGCCGTGCCGTCCCTCCCCACAGCCGGACCCTACTATTCGCCATACGCGCTGTATGGACAGAGACTAGCTTCAGCCTCGGCGCTGGGATACCAGTAACTACAGCTCTTCCTCC|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCC

LH00995:48:23YTGFLT4:1:1118:47493:5050,LH00995:48:23YTGFLT4:1:1131:26160:1785,LH00995:48:23YTGFLT4:1:1194:33271:11327,LH00995:48:23YTGFLT4:1:1436:29186:3242,LH00995:48:23YTGFLT4:1:2163:33117:20954,LH00995:48:23YTGFLT4:1:2212:8516:17829,LH00995:48:23YTGFLT4:1:2279:27244:1560,LH00995:48:23YTGFLT4:1:2428:3929:17787,LH00995:48:23YTGFLT4:2:1211:17868:11467,LH00995:48:23YTGFLT4:2:1239:39921:4433,LH00995:48:23YTGFLT4:2:1240:24137:13359,LH00995:48:23YTGFLT4:2:1298:46320:3354,LH00995:48:23YTGFLT4:2:1301:44840:26404,LH00995:48:23YTGFLT4:2:1307:34104:27119,LH00995:48:23YTGFLT4:2:1346:12383:11495,LH00995:48:23YTGFLT4:2:1359:17932:9141,LH00995:48:23YTGFLT4:2:1364:46385:24877,LH00995:48:23YTGFLT4:2:1388:20100:16932,LH00995:48:23YTGFLT4:2:1442:12585:19861,LH00995:48:23YTGFLT4:2:1493:15829:7488,LH00995:48:23YTGFLT4:2:2101:43602:10809,LH00995:48:23YTGFLT4:2:2156:30003:16988,LH00995:48:23YTGFLT4:2:2214:13054:26614,LH00995:48:23YTGFLT4:2:2233:19283:1168,LH00995:48:23YTGFLT4:2:2245:11169:8581,LH00995:48:23YTGFLT4:2:2343:20764:1771,LH00995:48:23YTGFLT4:2:2425:42704:6927,LH00995:48:23YTGFLT4:2:2488:2254:11747,LH00995:48:23YTGFLT4:3:1159:42922:17198,LH00995:48:23YTGFLT4:3:1306:14543:8427,LH00995:48:23YTGFLT4:3:1422:49548:23181,LH00995:48:23YTGFLT4:3:2171:42219:8581,LH00995:48:23YTGFLT4:3:2178:31621:21024,LH00995:48:23YTGFLT4:3:2198:25569:1687,LH00995:48:23YTGFLT4:3:2278:51910:7768,LH00995:48:23YTGFLT4:3:2396:15295:20071,LH00995:48:23YTGFLT4:4:1245:15611:20785,LH00995:48:23YTGFLT4:4:2102:27770:27525,LH00995:48:23YTGFLT4:4:2110:18693:4125,LH00995:48:23YTGFLT4:4:2249:26500:7053,LH00995:48:23YTGFLT4:4:2344:24137:2513,LH00995:48:23YTGFLT4:4:2356:25796:17100,LH00995:48:23YTGFLT4:4:2358:38667:2429,LH00995:48:23YTGFLT4:4:2492:24097:3873,LH00995:48:23YTGFLT4:4:2492:24105:3887,LH00995:48:23YTGFLT4:5:1192:10854:17058,LH00995:48:23YTGFLT4:5:1258:38392:12266,LH00995:48:23YTGFLT4:5:1342:43464:29095,LH00995:48:23YTGFLT4:5:1368:23814:13331,LH00995:48:23YTGFLT4:5:2248:50923:16428,LH00995:48:23YTGFLT4:5:2317:43254:26628,LH00995:48:23YTGFLT4:5:2449:46183:7544,LH00995:48:23YTGFLT4:6:1107:12423:14816,LH00995:48:23YTGFLT4:6:1187:41377:28562,LH00995:48:23YTGFLT4:6:1208:25359:12168,LH00995:48:23YTGFLT4:6:1250:13459:13975,LH00995:48:23YTGFLT4:6:1250:13475:13975,LH00995:48:23YTGFLT4:6:1272:29105:24737,LH00995:48:23YTGFLT4:6:1445:21896:10178,LH00995:48:23YTGFLT4:6:1466:16064:3999,LH00995:48:23YTGFLT4:6:1466:16072:3985,LH00995:48:23YTGFLT4:6:1470:28182:23672,LH00995:48:23YTGFLT4:6:1496:22827:20253,LH00995:48:23YTGFLT4:6:2134:41507:29431,LH00995:48:23YTGFLT4:6:2142:7957:24373,LH00995:48:23YTGFLT4:6:2149:26856:14256,LH00995:48:23YTGFLT4:6:2153:17819:2135,LH00995:48:23YTGFLT4:6:2249:27317:11775,LH00995:48:23YTGFLT4:6:2334:19178:7039,LH00995:48:23YTGFLT4:6:2436:50438:23097,LH00995:48:23YTGFLT4:6:2438:19712:25171,LH00995:48:23YTGFLT4:7:1127:43149:20533,LH00995:48:23YTGFLT4:7:1138:20092:3494,LH00995:48:23YTGFLT4:7:1194:43570:8455,LH00995:48:23YTGFLT4:7:1316:15546:14059,LH00995:48:23YTGFLT4:7:1322:48917:14914,LH00995:48:23YTGFLT4:7:2138:20821:4027,LH00995:48:23YTGFLT4:7:2177:26492:28366,LH00995:48:23YTGFLT4:7:2210:26079:29025,LH00995:48:23YTGFLT4:7:2303:50236:25718,LH00995:48:23YTGFLT4:7:2478:24226:6983,LH00995:48:23YTGFLT4:7:2488:21840:7025,LH00995:48:23YTGFLT4:7:2492:33336:11355,LH00995:48:23YTGFLT4:8:1115:9527:4895,LH00995:48:23YTGFLT4:8:1157:39047:23518,LH00995:48:23YTGFLT4:8:1245:16428:16147,LH00995:48:23YTGFLT4:8:1255:6979:5414,LH00995:48:23YTGFLT4:8:1255:6987:5400,LH00995:48:23YTGFLT4:8:1437:20796:1462,LH00995:48:23YTGFLT4:8:1492:13580:4041,LH00995:48:23YTGFLT4:8:2147:42372:11061,LH00995:48:23YTGFLT4:8:2188:25294:27497,LH00995:48:23YTGFLT4:8:2271:34929:5176,LH00995:48:23YTGFLT4:8:2338:5814:29179,LH00995:48:23YTGFLT4:8:2415:10117:2191,LH00995:48:23YTGFLT4:8:2488:28652:28436

MUC12

FP236383.3

+/+

chr7:100998059

chr21:8399955

CDS

intron

translocation

65535

11795

low

out-of-frame

ENSG00000205277.9

ENSG00000280441.3

ENST00000536621.5

downstream

upstream

duplicates(78)

CCTCAGGCCCCAGTCAGGAATCAACAACTTCCCACAGCAGCCCAGGTTCAACTGACACAGCACTGTCCCCTGGCAGTACCACAGCCTTATCCTTTGGTCAAGAATCTACAACCTTCCACAGCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCCG

SGPSQESTTSHSSPGSTDTALSPGSTTALSFGQESTTFHSSp|apslslsp

LH00995:48:23YTGFLT4:1:1138:14559:7278,LH00995:48:23YTGFLT4:1:1138:49653:25606,LH00995:48:23YTGFLT4:1:1140:30876:17717,LH00995:48:23YTGFLT4:1:1164:41361:27497,LH00995:48:23YTGFLT4:1:1229:16492:9225,LH00995:48:23YTGFLT4:1:1384:44605:5792,LH00995:48:23YTGFLT4:1:1385:33886:14326,LH00995:48:23YTGFLT4:1:1422:11719:19819,LH00995:48:23YTGFLT4:1:1428:34525:28884,LH00995:48:23YTGFLT4:1:1495:25901:14340,LH00995:48:23YTGFLT4:1:2158:18636:5260,LH00995:48:23YTGFLT4:1:2350:40503:15138,LH00995:48:23YTGFLT4:1:2423:39557:24316,LH00995:48:23YTGFLT4:1:2449:45074:27259,LH00995:48:23YTGFLT4:2:1131:16274:27343,LH00995:48:23YTGFLT4:2:1132:14357:18081,LH00995:48:23YTGFLT4:2:1239:14858:11719,LH00995:48:23YTGFLT4:2:1240:41304:20001,LH00995:48:23YTGFLT4:2:1339:7464:15783,LH00995:48:23YTGFLT4:2:1453:21905:6072,LH00995:48:23YTGFLT4:2:2131:42696:28156,LH00995:48:23YTGFLT4:2:2167:20982:27595,LH00995:48:23YTGFLT4:2:2192:28587:15853,LH00995:48:23YTGFLT4:2:2225:22883:20435,LH00995:48:23YTGFLT4:2:2293:15271:1168,LH00995:48:23YTGFLT4:2:2303:13879:20785,LH00995:48:23YTGFLT4:2:2372:12269:10823,LH00995:48:23YTGFLT4:2:2461:20465:26026,LH00995:48:23YTGFLT4:3:1152:15424:16428,LH00995:48:23YTGFLT4:3:1189:15392:8216,LH00995:48:23YTGFLT4:3:1261:34112:6451,LH00995:48:23YTGFLT4:3:1352:39775:25760,LH00995:48:23YTGFLT4:3:1413:10587:25143,LH00995:48:23YTGFLT4:3:1445:34355:28674,LH00995:48:23YTGFLT4:3:2105:42170:28618,LH00995:48:23YTGFLT4:3:2172:33999:11495,LH00995:48:23YTGFLT4:3:2183:7723:29347,LH00995:48:23YTGFLT4:3:2267:37947:3564,LH00995:48:23YTGFLT4:3:2286:15837:13891,LH00995:48:23YTGFLT4:3:2331:45163:6086,LH00995:48:23YTGFLT4:3:2364:6574:4377,LH00995:48:23YTGFLT4:3:2367:11630:2822,LH00995:48:23YTGFLT4:3:2438:39533:13989,LH00995:48:23YTGFLT4:3:2463:28878:8567,LH00995:48:23YTGFLT4:4:1248:38974:12210,LH00995:48:23YTGFLT4:4:1268:34832:23756,LH00995:48:23YTGFLT4:4:1269:40107:18151,LH00995:48:23YTGFLT4:4:1269:40123:18151,LH00995:48:23YTGFLT4:4:1274:42841:27539,LH00995:48:23YTGFLT4:4:1361:24550:15559,LH00995:48:23YTGFLT4:4:1361:24566:15559,LH00995:48:23YTGFLT4:4:1380:39015:2555,LH00995:48:23YTGFLT4:4:1387:28077:5162,LH00995:48:23YTGFLT4:4:1493:28635:6661,LH00995:48:23YTGFLT4:4:2119:24178:27693,LH00995:48:23YTGFLT4:4:2183:43626:25339,LH00995:48:23YTGFLT4:4:2215:2537:20925,LH00995:48:23YTGFLT4:4:2290:15700:8721,LH00995:48:23YTGFLT4:4:2464:36167:7067,LH00995:48:23YTGFLT4:4:2477:31394:8973,LH00995:48:23YTGFLT4:5:1128:30545:18768,LH00995:48:23YTGFLT4:5:1243:52056:18305,LH00995:48:23YTGFLT4:5:1265:29428:12266,LH00995:48:23YTGFLT4:5:1291:40293:17492,LH00995:48:23YTGFLT4:5:1393:4495:25606,LH00995:48:23YTGFLT4:5:1398:31871:4447,LH00995:48:23YTGFLT4:5:1445:42550:7782,LH00995:48:23YTGFLT4:5:2207:47760:2541,LH00995:48:23YTGFLT4:5:2310:51838:1841,LH00995:48:23YTGFLT4:5:2330:34873:15755,LH00995:48:23YTGFLT4:5:2442:23668:21850,LH00995:48:23YTGFLT4:6:1181:1413:29263,LH00995:48:23YTGFLT4:6:1284:12197:15236,LH00995:48:23YTGFLT4:6:1330:36434:10136,LH00995:48:23YTGFLT4:6:1332:24364:1925,LH00995:48:23YTGFLT4:6:1332:24372:1911,LH00995:48:23YTGFLT4:6:1402:11768:21388,LH00995:48:23YTGFLT4:6:2125:7755:12252,LH00995:48:23YTGFLT4:6:2133:2553:23055,LH00995:48:23YTGFLT4:6:2173:37890:22831,LH00995:48:23YTGFLT4:6:2195:35310:18165,LH00995:48:23YTGFLT4:6:2260:22762:13443,LH00995:48:23YTGFLT4:6:2335:11282:7263,LH00995:48:23YTGFLT4:6:2340:50300:27735,LH00995:48:23YTGFLT4:6:2372:34727:21612,LH00995:48:23YTGFLT4:6:2442:3896:27063,LH00995:48:23YTGFLT4:6:2477:12399:18165,LH00995:48:23YTGFLT4:7:1170:50203:22299,LH00995:48:23YTGFLT4:7:1214:44832:2345,LH00995:48:23YTGFLT4:7:1214:44848:2345,LH00995:48:23YTGFLT4:7:1239:12350:23742,LH00995:48:23YTGFLT4:7:1334:6849:8917,LH00995:48:23YTGFLT4:7:1371:20165:7600,LH00995:48:23YTGFLT4:7:1372:2165:15124,LH00995:48:23YTGFLT4:7:1419:16055:2836,LH00995:48:23YTGFLT4:7:1423:17585:23672,LH00995:48:23YTGFLT4:7:2150:27932:4237,LH00995:48:23YTGFLT4:7:2192:15975:16287,LH00995:48:23YTGFLT4:7:2201:7213:8931,LH00995:48:23YTGFLT4:7:2220:17382:27357,LH00995:48:23YTGFLT4:7:2249:25278:12476,LH00995:48:23YTGFLT4:7:2328:13159:6535,LH00995:48:23YTGFLT4:7:2393:9786:19524,LH00995:48:23YTGFLT4:7:2423:11752:10094,LH00995:48:23YTGFLT4:7:2434:36119:7067,LH00995:48:23YTGFLT4:8:1122:22657:2864,LH00995:48:23YTGFLT4:8:1371:38610:13933,LH00995:48:23YTGFLT4:8:1430:32591:14998,LH00995:48:23YTGFLT4:8:1466:45964:2597,LH00995:48:23YTGFLT4:8:2223:11145:10725,LH00995:48:23YTGFLT4:8:2433:36418:10360

LENG8

FP236383.3

+/+

chr19:54458670

chr21:8399955

CDS

intron

translocation

10587

11795

low

out-of-frame

SAC3/GANP_family(84%)|

ENSG00000167615.17

ENSG00000280441.3

ENST00000376514.6

downstream

upstream

duplicates(32),mismatches(3)

CCTTTGCTCTTCCCATCCTTCCGCCTCGCACCGCCCCTCAGACCAGCTCCTGGCCGCAGGCCTCCCCCAGCCCCCAACCCTTGTCCTGGTCCTTGCTTCCCCATCATCTTTCTCCATTCAGCCC|CGCGCCCTCTCTCTCTCTCTCTCCCCC

PLLFPSFRLAPPLRPAPGRRPPPAPNPCPGPCFPIIFLHSA|prplslslp

LH00995:48:23YTGFLT4:1:1191:34654:10612,LH00995:48:23YTGFLT4:1:1290:19639:15517,LH00995:48:23YTGFLT4:1:1395:19081:27918,LH00995:48:23YTGFLT4:1:2155:39072:19188,LH00995:48:23YTGFLT4:1:2210:27479:11159,LH00995:48:23YTGFLT4:1:2251:6178:21514,LH00995:48:23YTGFLT4:1:2432:36475:28366,LH00995:48:23YTGFLT4:2:1229:9292:22649,LH00995:48:23YTGFLT4:2:1312:49678:17829,LH00995:48:23YTGFLT4:2:1462:48723:18782,LH00995:48:23YTGFLT4:2:2186:37316:5946,LH00995:48:23YTGFLT4:2:2254:21306:2906,LH00995:48:23YTGFLT4:2:2291:8467:9562,LH00995:48:23YTGFLT4:2:2324:28595:1575,LH00995:48:23YTGFLT4:2:2362:36839:13667,LH00995:48:23YTGFLT4:3:1156:7836:11159,LH00995:48:23YTGFLT4:3:1164:43804:10767,LH00995:48:23YTGFLT4:3:1193:16055:21472,LH00995:48:23YTGFLT4:3:1331:49815:25858,LH00995:48:23YTGFLT4:3:1496:38748:2373,LH00995:48:23YTGFLT4:3:2121:47048:28548,LH00995:48:23YTGFLT4:3:2162:2108:7768,LH00995:48:23YTGFLT4:3:2171:27373:7081,LH00995:48:23YTGFLT4:3:2319:25108:8146,LH00995:48:23YTGFLT4:3:2371:11501:16217,LH00995:48:23YTGFLT4:4:1102:32858:27455,LH00995:48:23YTGFLT4:4:1171:17641:4041,LH00995:48:23YTGFLT4:4:1280:34234:6157,LH00995:48:23YTGFLT4:4:1405:16355:18403,LH00995:48:23YTGFLT4:4:1486:8766:7698,LH00995:48:23YTGFLT4:4:2145:46207:23868,LH00995:48:23YTGFLT4:4:2187:21419:10668,LH00995:48:23YTGFLT4:5:1167:14171:4251,LH00995:48:23YTGFLT4:5:1229:33174:28786,LH00995:48:23YTGFLT4:5:1373:18377:27007,LH00995:48:23YTGFLT4:5:2105:49322:20491,LH00995:48:23YTGFLT4:5:2124:47445:5330,LH00995:48:23YTGFLT4:5:2227:44201:23055,LH00995:48:23YTGFLT4:5:2233:51838:7894,LH00995:48:23YTGFLT4:5:2271:8330:11369,LH00995:48:23YTGFLT4:5:2313:31912:28955,LH00995:48:23YTGFLT4:5:2446:13442:4979,LH00995:48:23YTGFLT4:6:1158:52202:16287,LH00995:48:23YTGFLT4:6:1179:3872:3060,LH00995:48:23YTGFLT4:6:1215:48788:13653,LH00995:48:23YTGFLT4:6:1235:5498:27988,LH00995:48:23YTGFLT4:6:1326:49920:7263,LH00995:48:23YTGFLT4:6:1326:49928:7278,LH00995:48:23YTGFLT4:6:1393:3403:7656,LH00995:48:23YTGFLT4:6:2431:14947:26362,LH00995:48:23YTGFLT4:7:1230:40827:24443,LH00995:48:23YTGFLT4:7:1230:40835:24429,LH00995:48:23YTGFLT4:7:2291:45665:5582,LH00995:48:23YTGFLT4:8:1247:5959:5526,LH00995:48:23YTGFLT4:8:1357:37454:26530,LH00995:48:23YTGFLT4:8:2259:3637:10304,LH00995:48:23YTGFLT4:8:2306:33457:12826,LH00995:48:23YTGFLT4:8:2349:50964:17030,LH00995:48:23YTGFLT4:8:2377:35285:22915,LH00995:48:23YTGFLT4:8:2436:10328:27469

NPEPPS

FP671120.4

+/+

chr17:47531345

chr21:8214653

CDS

intron

translocation

10537

12299

low

out-of-frame

ENSG00000141279.17

ENSG00000278996.1

ENST00000677120.1

downstream

upstream

duplicates(29),mismatches(7)

TGGGTCTCTCCCCCGCCCCCCAGGCTCCCCCGGTCGCTCTCCTCCGGCGGTCGCCCGCGCTCGGTGGATGTGGCTGGCAGCTGCCGCCCCCTCCCTCGCTCGCCGCCTGCTC|GTCCGTCCGTCCGTCCGTCCTCCTCCTCCC

MWLAAAAPSLARRLL|vrpsvrppp

LH00995:48:23YTGFLT4:1:1356:29873:9618,LH00995:48:23YTGFLT4:1:1456:43909:11733,LH00995:48:23YTGFLT4:1:2271:20173:5288,LH00995:48:23YTGFLT4:1:2443:6881:13989,LH00995:48:23YTGFLT4:1:2453:37284:18782,LH00995:48:23YTGFLT4:2:1160:22940:14732,LH00995:48:23YTGFLT4:2:1244:44904:13541,LH00995:48:23YTGFLT4:2:1263:52056:19370,LH00995:48:23YTGFLT4:2:1301:39072:17114,LH00995:48:23YTGFLT4:2:1433:6623:19006,LH00995:48:23YTGFLT4:2:2101:46207:25017,LH00995:48:23YTGFLT4:2:2276:40366:14732,LH00995:48:23YTGFLT4:2:2281:40503:5302,LH00995:48:23YTGFLT4:2:2375:34986:8637,LH00995:48:23YTGFLT4:2:2447:36693:12826,LH00995:48:23YTGFLT4:3:1109:4293:11832,LH00995:48:23YTGFLT4:3:1187:35787:28969,LH00995:48:23YTGFLT4:3:1450:28838:10150,LH00995:48:23YTGFLT4:3:2176:39953:23574,LH00995:48:23YTGFLT4:3:2249:26961:7348,LH00995:48:23YTGFLT4:3:2480:11768:4265,LH00995:48:23YTGFLT4:4:1187:35892:8609,LH00995:48:23YTGFLT4:4:1248:41005:25227,LH00995:48:23YTGFLT4:4:1320:22649:12630,LH00995:48:23YTGFLT4:4:2247:8143:9449,LH00995:48:23YTGFLT4:4:2301:46975:16035,LH00995:48:23YTGFLT4:4:2342:15635:23966,LH00995:48:23YTGFLT4:4:2353:50025:5120,LH00995:48:23YTGFLT4:4:2388:24251:16974,LH00995:48:23YTGFLT4:4:2468:29291:21976,LH00995:48:23YTGFLT4:5:1273:33821:15251,LH00995:48:23YTGFLT4:5:1371:25505:16540,LH00995:48:23YTGFLT4:5:1398:16322:2653,LH00995:48:23YTGFLT4:5:1415:46709:2878,LH00995:48:23YTGFLT4:5:2155:16606:22173,LH00995:48:23YTGFLT4:5:2348:46709:11089,LH00995:48:23YTGFLT4:6:1367:7860:28240,LH00995:48:23YTGFLT4:6:1421:29186:9323,LH00995:48:23YTGFLT4:6:2229:15384:21878,LH00995:48:23YTGFLT4:6:2243:30706:8286,LH00995:48:23YTGFLT4:6:2317:38441:8174,LH00995:48:23YTGFLT4:6:2323:32033:13247,LH00995:48:23YTGFLT4:7:1120:30375:6451,LH00995:48:23YTGFLT4:7:1179:34719:12378,LH00995:48:23YTGFLT4:7:1367:38028:12952,LH00995:48:23YTGFLT4:7:2137:6008:4321,LH00995:48:23YTGFLT4:7:2201:24186:14368,LH00995:48:23YTGFLT4:7:2268:5417:4923,LH00995:48:23YTGFLT4:7:2427:24736:24092,LH00995:48:23YTGFLT4:8:1196:26314:17296,LH00995:48:23YTGFLT4:8:1196:26848:16876,LH00995:48:23YTGFLT4:8:1307:29420:26685,LH00995:48:23YTGFLT4:8:1461:36394:25507,LH00995:48:23YTGFLT4:8:1482:3597:25676,LH00995:48:23YTGFLT4:8:1489:8200:5232,LH00995:48:23YTGFLT4:8:2119:24105:7306,LH00995:48:23YTGFLT4:8:2186:19947:17282,LH00995:48:23YTGFLT4:8:2304:27964:1715,LH00995:48:23YTGFLT4:8:2311:36402:20954,LH00995:48:23YTGFLT4:8:2341:27171:12756,LH00995:48:23YTGFLT4:8:2414:25488:19987

RUNDC1

+/+

chr17:42981074

chr17:42981069

CDS/splice-site

CDS

duplication/ITD

651

108

low

in-frame

|RUN_domain(100%)

ENSG00000198863.7

ENST00000361677.5

downstream

upstream

duplicates(33)

TCACGTCCTAGGTTACGAAGGGCCCGGCGACCCCGCCAGCGATGAGGGCGATGGGCTGCCAGGGGACCGGCCATGGTTGCGGGGCGAGGACCAG|GgCttG___AGTGAGCAGGAAAAGCAAGAGCGTCTGGAAACCCAAAGGGAGAAGCAGAAAGAACTGATACTGCAGCTCAAGACCCAGCTAGATGACCTGGAAACGTTTGCCTATCAAGAG

HVLGYEGPGDPASDEGDGLPGDRPWLRGEDQ|glSEQEKQERLETQREKQKELILQLKTQLDDLETFAYQ

LH00995:48:23YTGFLT4:1:1358:20270:3774,LH00995:48:23YTGFLT4:1:1377:47032:11789,LH00995:48:23YTGFLT4:1:1377:47040:11803,LH00995:48:23YTGFLT4:1:1494:22010:6367,LH00995:48:23YTGFLT4:1:2132:23668:1084,LH00995:48:23YTGFLT4:1:2144:48642:1546,LH00995:48:23YTGFLT4:1:2401:2901:17997,LH00995:48:23YTGFLT4:2:1142:26572:25479,LH00995:48:23YTGFLT4:2:1222:35140:10921,LH00995:48:23YTGFLT4:2:1288:38190:13513,LH00995:48:23YTGFLT4:2:2167:8621:16834,LH00995:48:23YTGFLT4:2:2428:51126:18403,LH00995:48:23YTGFLT4:3:1333:7796:10220,LH00995:48:23YTGFLT4:3:2282:14332:5288,LH00995:48:23YTGFLT4:3:2417:13111:11299,LH00995:48:23YTGFLT4:4:1112:26670:4657,LH00995:48:23YTGFLT4:4:1280:50333:28044,LH00995:48:23YTGFLT4:4:1406:13434:23294,LH00995:48:23YTGFLT4:4:1461:47162:25858,LH00995:48:23YTGFLT4:4:2214:19146:23798,LH00995:48:23YTGFLT4:4:2462:14162:17773,LH00995:48:23YTGFLT4:5:1127:8807:24863,LH00995:48:23YTGFLT4:5:1172:41741:24597,LH00995:48:23YTGFLT4:5:1174:26241:24569,LH00995:48:23YTGFLT4:5:1184:8548:27245,LH00995:48:23YTGFLT4:5:1389:33700:28520,LH00995:48:23YTGFLT4:5:1449:33328:16329,LH00995:48:23YTGFLT4:5:1489:41450:16890,LH00995:48:23YTGFLT4:6:1170:45964:16217,LH00995:48:23YTGFLT4:6:1170:45972:16231,LH00995:48:23YTGFLT4:6:1170:45980:16217,LH00995:48:23YTGFLT4:6:1324:43731:27091,LH00995:48:23YTGFLT4:6:1393:27470:14928,LH00995:48:23YTGFLT4:6:2191:29331:18375,LH00995:48:23YTGFLT4:6:2203:17334:9281,LH00995:48:23YTGFLT4:6:2271:4738:22663,LH00995:48:23YTGFLT4:6:2305:17269:27413,LH00995:48:23YTGFLT4:6:2332:1413:4657,LH00995:48:23YTGFLT4:6:2407:42906:22383,LH00995:48:23YTGFLT4:6:2480:7237:24499,LH00995:48:23YTGFLT4:7:1149:18644:1350,LH00995:48:23YTGFLT4:7:1230:16662:13723,LH00995:48:23YTGFLT4:7:1239:18385:16484,LH00995:48:23YTGFLT4:7:1239:19979:15629,LH00995:48:23YTGFLT4:7:1251:24364:10893,LH00995:48:23YTGFLT4:7:1263:10651:11607,LH00995:48:23YTGFLT4:7:1271:51749:1434,LH00995:48:23YTGFLT4:7:1482:21104:16400,LH00995:48:23YTGFLT4:7:2106:28102:19412,LH00995:48:23YTGFLT4:7:2233:9681:16848,LH00995:48:23YTGFLT4:7:2307:33020:11958,LH00995:48:23YTGFLT4:7:2392:10603:17296,LH00995:48:23YTGFLT4:7:2429:6194:28212,LH00995:48:23YTGFLT4:8:1229:47979:2107,LH00995:48:23YTGFLT4:8:2207:40123:14872,LH00995:48:23YTGFLT4:8:2237:21702:15363,LH00995:48:23YTGFLT4:8:2395:22050:17254

SETD1A

FP671120.4

+/+

chr16:30964783

chr21:8214657

CDS

intron

translocation

3749

12299

low

out-of-frame

RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%)|

ENSG00000099381.18

ENSG00000278996.1

ENST00000262519.14

downstream

upstream

duplicates(130),mismatches(40)

CCAAGATGCCTTTTCCCGCCGCCACTTCTCTGCATCTTCAGCCTCCACAACCGCCTCCACGGCCATCGCCGCCACCACTGCAGCCACTGCCTCATCCTCCGCCTCTTCCTCCTCATTGTCCTCGTCC|GTCCGTCCGTCCGTCCTCCTCCTCCC

QDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSS|vrpsvlll

LH00995:48:23YTGFLT4:1:1111:43052:26362,LH00995:48:23YTGFLT4:1:1119:10182:26572,LH00995:48:23YTGFLT4:1:1147:30844:27161,LH00995:48:23YTGFLT4:1:1172:32106:13709,LH00995:48:23YTGFLT4:1:1174:2383:8805,LH00995:48:23YTGFLT4:1:1197:32066:3382,LH00995:48:23YTGFLT4:1:1213:25116:24387,LH00995:48:23YTGFLT4:1:1224:1049:14059,LH00995:48:23YTGFLT4:1:1305:42097:8455,LH00995:48:23YTGFLT4:1:1316:34533:6339,LH00995:48:23YTGFLT4:1:1406:13742:14718,LH00995:48:23YTGFLT4:1:2101:22358:18824,LH00995:48:23YTGFLT4:1:2142:4268:22691,LH00995:48:23YTGFLT4:1:2144:19332:7530,LH00995:48:23YTGFLT4:1:2153:49467:5330,LH00995:48:23YTGFLT4:1:2269:12180:13723,LH00995:48:23YTGFLT4:1:2269:30391:8469,LH00995:48:23YTGFLT4:1:2428:11865:19931,LH00995:48:23YTGFLT4:1:2469:44735:20113,LH00995:48:23YTGFLT4:1:2478:37429:7095,LH00995:48:23YTGFLT4:1:2493:35658:9379,LH00995:48:23YTGFLT4:2:1105:51546:27876,LH00995:48:23YTGFLT4:2:1111:32349:8749,LH00995:48:23YTGFLT4:2:1157:3532:3508,LH00995:48:23YTGFLT4:2:1183:51409:18473,LH00995:48:23YTGFLT4:2:1211:51894:12756,LH00995:48:23YTGFLT4:2:1238:13151:25101,LH00995:48:23YTGFLT4:2:1250:7682:12714,LH00995:48:23YTGFLT4:2:1277:23037:22915,LH00995:48:23YTGFLT4:2:1277:23045:22929,LH00995:48:23YTGFLT4:2:1292:12536:4083,LH00995:48:23YTGFLT4:2:1316:37421:12602,LH00995:48:23YTGFLT4:2:1327:15335:21962,LH00995:48:23YTGFLT4:2:1376:11881:20687,LH00995:48:23YTGFLT4:2:1414:1194:11565,LH00995:48:23YTGFLT4:2:1422:18482:12728,LH00995:48:23YTGFLT4:2:1497:50697:23546,LH00995:48:23YTGFLT4:2:2103:32737:25367,LH00995:48:23YTGFLT4:2:2165:26354:12406,LH00995:48:23YTGFLT4:2:2234:46878:25311,LH00995:48:23YTGFLT4:2:2259:6809:28997,LH00995:48:23YTGFLT4:2:2317:10765:11495,LH00995:48:23YTGFLT4:2:2319:8305:8497,LH00995:48:23YTGFLT4:2:2322:23336:7067,LH00995:48:23YTGFLT4:2:2357:19146:9870,LH00995:48:23YTGFLT4:2:2359:47477:5274,LH00995:48:23YTGFLT4:2:2362:20481:20197,LH00995:48:23YTGFLT4:2:2370:21104:2079,LH00995:48:23YTGFLT4:2:2373:51886:21402,LH00995:48:23YTGFLT4:2:2483:43254:5162,LH00995:48:23YTGFLT4:2:2493:8216:24765,LH00995:48:23YTGFLT4:3:1116:45066:10346,LH00995:48:23YTGFLT4:3:1165:28110:8861,LH00995:48:23YTGFLT4:3:1216:1858:16974,LH00995:48:23YTGFLT4:3:1228:44767:29109,LH00995:48:23YTGFLT4:3:1230:12674:11916,LH00995:48:23YTGFLT4:3:1281:37809:10697,LH00995:48:23YTGFLT4:3:1284:27924:7418,LH00995:48:23YTGFLT4:3:1297:45309:23798,LH00995:48:23YTGFLT4:3:1297:50260:17296,LH00995:48:23YTGFLT4:3:1301:38352:20996,LH00995:48:23YTGFLT4:3:1342:23935:18053,LH00995:48:23YTGFLT4:3:1386:8103:14844,LH00995:48:23YTGFLT4:3:1396:48812:21822,LH00995:48:23YTGFLT4:3:2106:45366:14368,LH00995:48:23YTGFLT4:3:2108:9729:22145,LH00995:48:23YTGFLT4:3:2147:5975:25592,LH00995:48:23YTGFLT4:3:2206:43917:17829,LH00995:48:23YTGFLT4:3:2233:23717:4559,LH00995:48:23YTGFLT4:3:2253:38578:13933,LH00995:48:23YTGFLT4:3:2255:37373:14031,LH00995:48:23YTGFLT4:3:2292:6145:7446,LH00995:48:23YTGFLT4:3:2323:18693:19342,LH00995:48:23YTGFLT4:3:2346:15481:7894,LH00995:48:23YTGFLT4:3:2381:11299:8889,LH00995:48:23YTGFLT4:3:2422:43877:3410,LH00995:48:23YTGFLT4:3:2449:45875:4097,LH00995:48:23YTGFLT4:4:1115:26386:26502,LH00995:48:23YTGFLT4:4:1136:20392:27497,LH00995:48:23YTGFLT4:4:1137:37203:4237,LH00995:48:23YTGFLT4:4:1154:20384:13331,LH00995:48:23YTGFLT4:4:1154:20392:13317,LH00995:48:23YTGFLT4:4:1154:20400:13303,LH00995:48:23YTGFLT4:4:1212:6170:9477,LH00995:48:23YTGFLT4:4:1235:21484:22467,LH00995:48:23YTGFLT4:4:1240:21306:6437,LH00995:48:23YTGFLT4:4:1246:50754:2373,LH00995:48:23YTGFLT4:4:1308:41361:24919,LH00995:48:23YTGFLT4:4:1310:6275:8034,LH00995:48:23YTGFLT4:4:1339:9980:14956,LH00995:48:23YTGFLT4:4:1375:15287:5204,LH00995:48:23YTGFLT4:4:1395:12900:7011,LH00995:48:23YTGFLT4:4:1425:8338:16259,LH00995:48:23YTGFLT4:4:1441:20343:25031,LH00995:48:23YTGFLT4:4:1459:22705:4069,LH00995:48:23YTGFLT4:4:2254:18393:25942,LH00995:48:23YTGFLT4:4:2316:14154:15685,LH00995:48:23YTGFLT4:4:2317:5579:22467,LH00995:48:23YTGFLT4:4:2355:40908:5890,LH00995:48:23YTGFLT4:4:2361:25416:25774,LH00995:48:23YTGFLT4:4:2368:41604:1827,LH00995:48:23YTGFLT4:4:2398:36847:13429,LH00995:48:23YTGFLT4:4:2447:33732:5960,LH00995:48:23YTGFLT4:4:2477:24971:23546,LH00995:48:23YTGFLT4:4:2483:15093:26642,LH00995:48:23YTGFLT4:5:1126:42494:26376,LH00995:48:23YTGFLT4:5:1180:20715:28590,LH00995:48:23YTGFLT4:5:1214:32567:14228,LH00995:48:23YTGFLT4:5:1229:31499:12490,LH00995:48:23YTGFLT4:5:1249:5174:24653,LH00995:48:23YTGFLT4:5:1257:3492:29473,LH00995:48:23YTGFLT4:5:1339:28943:4363,LH00995:48:23YTGFLT4:5:1353:25464:18740,LH00995:48:23YTGFLT4:5:1362:45058:25802,LH00995:48:23YTGFLT4:5:1421:4285:21878,LH00995:48:23YTGFLT4:5:1437:23118:8511,LH00995:48:23YTGFLT4:5:1440:50050:23882,LH00995:48:23YTGFLT4:5:1442:50211:6591,LH00995:48:23YTGFLT4:5:1449:28425:20897,LH00995:48:23YTGFLT4:5:1465:44702:5008,LH00995:48:23YTGFLT4:5:1472:7318:2415,LH00995:48:23YTGFLT4:5:2181:41126:29361,LH00995:48:23YTGFLT4:5:2352:12609:16035,LH00995:48:23YTGFLT4:5:2352:12625:16035,LH00995:48:23YTGFLT4:5:2419:21152:5554,LH00995:48:23YTGFLT4:5:2462:35803:6913,LH00995:48:23YTGFLT4:5:2496:14243:13765,LH00995:48:23YTGFLT4:6:1167:46539:15699,LH00995:48:23YTGFLT4:6:1190:33133:25830,LH00995:48:23YTGFLT4:6:1225:35180:25143,LH00995:48:23YTGFLT4:6:1259:20489:24891,LH00995:48:23YTGFLT4:6:1303:30067:24246,LH00995:48:23YTGFLT4:6:1307:40884:21458,LH00995:48:23YTGFLT4:6:1314:43667:20757,LH00995:48:23YTGFLT4:6:1328:31160:22131,LH00995:48:23YTGFLT4:6:1363:4438:27806,LH00995:48:23YTGFLT4:6:1412:44646:21528,LH00995:48:23YTGFLT4:6:1431:10101:2892,LH00995:48:23YTGFLT4:6:1438:31087:1518,LH00995:48:23YTGFLT4:6:1455:14664:9590,LH00995:48:23YTGFLT4:6:1487:29420:20575,LH00995:48:23YTGFLT4:6:1498:19502:5274,LH00995:48:23YTGFLT4:6:2106:27212:21990,LH00995:48:23YTGFLT4:6:2124:24453:1883,LH00995:48:23YTGFLT4:6:2130:24995:22747,LH00995:48:23YTGFLT4:6:2171:27996:1911,LH00995:48:23YTGFLT4:6:2186:42453:17450,LH00995:48:23YTGFLT4:6:2230:48860:15965,LH00995:48:23YTGFLT4:6:2292:6161:9099,LH00995:48:23YTGFLT4:6:2295:33311:4279,LH00995:48:23YTGFLT4:6:2367:10732:4321,LH00995:48:23YTGFLT4:6:2418:14923:5526,LH00995:48:23YTGFLT4:6:2487:31184:2135,LH00995:48:23YTGFLT4:7:1147:10886:27932,LH00995:48:23YTGFLT4:7:1185:42049:10584,LH00995:48:23YTGFLT4:7:1238:9244:19426,LH00995:48:23YTGFLT4:7:1266:20497:28492,LH00995:48:23YTGFLT4:7:1306:7051:6941,LH00995:48:23YTGFLT4:7:1306:7059:6927,LH00995:48:23YTGFLT4:7:1351:46644:11341,LH00995:48:23YTGFLT4:7:1435:25893:10234,LH00995:48:23YTGFLT4:7:1481:39970:4853,LH00995:48:23YTGFLT4:7:1486:12844:6353,LH00995:48:23YTGFLT4:7:1493:31904:4055,LH00995:48:23YTGFLT4:7:2120:6566:21626,LH00995:48:23YTGFLT4:7:2162:42364:7544,LH00995:48:23YTGFLT4:7:2218:1591:13065,LH00995:48:23YTGFLT4:7:2267:28466:9954,LH00995:48:23YTGFLT4:7:2292:32227:19889,LH00995:48:23YTGFLT4:7:2303:39646:14101,LH00995:48:23YTGFLT4:8:1114:50826:19062,LH00995:48:23YTGFLT4:8:1221:4001:11467,LH00995:48:23YTGFLT4:8:1232:34808:10514,LH00995:48:23YTGFLT4:8:1258:46886:24232,LH00995:48:23YTGFLT4:8:1336:27115:5344,LH00995:48:23YTGFLT4:8:1340:15562:15797,LH00995:48:23YTGFLT4:8:1372:40787:5204,LH00995:48:23YTGFLT4:8:1397:40002:6787,LH00995:48:23YTGFLT4:8:1411:32697:6605,LH00995:48:23YTGFLT4:8:1423:7650:14228,LH00995:48:23YTGFLT4:8:1449:14154:4391,LH00995:48:23YTGFLT4:8:2111:37098:18067,LH00995:48:23YTGFLT4:8:2142:13717:27203,LH00995:48:23YTGFLT4:8:2175:32858:25073,LH00995:48:23YTGFLT4:8:2275:30456:11691,LH00995:48:23YTGFLT4:8:2296:29024:6577,LH00995:48:23YTGFLT4:8:2348:35916:9211,LH00995:48:23YTGFLT4:8:2350:13321:1266,LH00995:48:23YTGFLT4:8:2363:25642:28436,LH00995:48:23YTGFLT4:8:2384:24801:4951,LH00995:48:23YTGFLT4:8:2393:7504:27876,LH00995:48:23YTGFLT4:8:2469:33934:6171

KIAA1522

FP671120.4

+/+

chr1:32771283

chr21:8214654

CDS

intron

translocation

6075

12299

low

out-of-frame

ENSG00000162522.11

ENSG00000278996.1

ENST00000401073.7

downstream

upstream

duplicates(67),mismatches(11)

TGGGCCACAGATATTGACCCCCCTGGGTGACAGGTTTGTCATACCTCCTCACCCCAAGGTGCCTGCCCCCTTCTCCCCACCTCCCTCCAAGCCCAGGAGCCCTAACCCAGCTGCCCCTGCTCTAGCCGCCCCTGCTGTGGTTCCTGGGCCTGTTTCTACCACTGACG|TCCGTCCGTCCGTCCGTCCTCCTCCTCCC

GPQILTPLGDRFVIPPHPKVPAPFSPPPSKPRSPNPAAPALAAPAVVPGPVSTTD|vrpsvrppp

LH00995:48:23YTGFLT4:1:1169:6639:5750,LH00995:48:23YTGFLT4:1:1178:29121:18852,LH00995:48:23YTGFLT4:1:1213:45746:1406,LH00995:48:23YTGFLT4:1:1261:32729:16470,LH00995:48:23YTGFLT4:1:1321:1307:22803,LH00995:48:23YTGFLT4:1:1379:30933:5932,LH00995:48:23YTGFLT4:1:2129:42494:8945,LH00995:48:23YTGFLT4:1:2129:42502:8959,LH00995:48:23YTGFLT4:1:2310:24113:4377,LH00995:48:23YTGFLT4:1:2370:12035:10809,LH00995:48:23YTGFLT4:1:2370:12051:10809,LH00995:48:23YTGFLT4:1:2427:44646:3228,LH00995:48:23YTGFLT4:1:2430:16687:10570,LH00995:48:23YTGFLT4:1:2443:1607:8356,LH00995:48:23YTGFLT4:1:2459:16962:5442,LH00995:48:23YTGFLT4:1:2483:3548:20659,LH00995:48:23YTGFLT4:2:1118:24421:10290,LH00995:48:23YTGFLT4:2:1138:15780:7628,LH00995:48:23YTGFLT4:2:1217:11930:2920,LH00995:48:23YTGFLT4:2:1217:11938:2934,LH00995:48:23YTGFLT4:2:1217:28134:24877,LH00995:48:23YTGFLT4:2:1259:25262:17969,LH00995:48:23YTGFLT4:2:1367:28093:27273,LH00995:48:23YTGFLT4:2:1381:26314:24499,LH00995:48:23YTGFLT4:2:1450:49362:4587,LH00995:48:23YTGFLT4:2:1481:10587:28590,LH00995:48:23YTGFLT4:2:2198:9219:5456,LH00995:48:23YTGFLT4:2:2206:12884:14270,LH00995:48:23YTGFLT4:2:2229:46175:3802,LH00995:48:23YTGFLT4:2:2393:25230:16400,LH00995:48:23YTGFLT4:2:2482:30488:15251,LH00995:48:23YTGFLT4:3:1218:6663:11677,LH00995:48:23YTGFLT4:3:1337:5522:8216,LH00995:48:23YTGFLT4:3:1375:12051:2625,LH00995:48:23YTGFLT4:3:1413:15708:1645,LH00995:48:23YTGFLT4:3:1445:13952:18053,LH00995:48:23YTGFLT4:3:1478:46013:26334,LH00995:48:23YTGFLT4:3:2181:26589:8553,LH00995:48:23YTGFLT4:3:2214:37389:29277,LH00995:48:23YTGFLT4:3:2313:23118:28604,LH00995:48:23YTGFLT4:3:2347:37712:22831,LH00995:48:23YTGFLT4:3:2428:44451:17577,LH00995:48:23YTGFLT4:3:2446:14114:13961,LH00995:48:23YTGFLT4:4:1183:50519:7740,LH00995:48:23YTGFLT4:4:1376:2100:20337,LH00995:48:23YTGFLT4:4:1431:6784:7460,LH00995:48:23YTGFLT4:4:1458:39169:15937,LH00995:48:23YTGFLT4:4:2116:50842:24835,LH00995:48:23YTGFLT4:4:2128:41677:6297,LH00995:48:23YTGFLT4:4:2238:44136:5624,LH00995:48:23YTGFLT4:4:2238:44152:5624,LH00995:48:23YTGFLT4:4:2377:23830:25634,LH00995:48:23YTGFLT4:4:2398:17827:23111,LH00995:48:23YTGFLT4:4:2479:41482:26671,LH00995:48:23YTGFLT4:5:1102:11541:5078,LH00995:48:23YTGFLT4:5:1162:44888:27217,LH00995:48:23YTGFLT4:5:1280:1372:2401,LH00995:48:23YTGFLT4:5:1320:29986:15307,LH00995:48:23YTGFLT4:5:2167:40657:17394,LH00995:48:23YTGFLT4:5:2320:31871:20505,LH00995:48:23YTGFLT4:6:1314:46878:29487,LH00995:48:23YTGFLT4:6:2177:13596:9870,LH00995:48:23YTGFLT4:6:2180:29938:17633,LH00995:48:23YTGFLT4:6:2238:6744:17759,LH00995:48:23YTGFLT4:6:2294:7464:8917,LH00995:48:23YTGFLT4:6:2404:45050:26236,LH00995:48:23YTGFLT4:7:1171:15829:20575,LH00995:48:23YTGFLT4:7:1171:15837:20561,LH00995:48:23YTGFLT4:7:1190:52072:7376,LH00995:48:23YTGFLT4:7:1207:42388:22859,LH00995:48:23YTGFLT4:7:1262:49645:11775,LH00995:48:23YTGFLT4:7:1268:13831:9127,LH00995:48:23YTGFLT4:7:1268:13839:9141,LH00995:48:23YTGFLT4:7:1306:3710:3929,LH00995:48:23YTGFLT4:7:2180:49030:5022,LH00995:48:23YTGFLT4:7:2201:33206:23546,LH00995:48:23YTGFLT4:7:2332:21087:16792,LH00995:48:23YTGFLT4:7:2387:32964:20996,LH00995:48:23YTGFLT4:7:2419:49144:5526,LH00995:48:23YTGFLT4:7:2429:5045:11817,LH00995:48:23YTGFLT4:7:2461:11792:7109,LH00995:48:23YTGFLT4:8:1101:43861:4447,LH00995:48:23YTGFLT4:8:1114:52121:18613,LH00995:48:23YTGFLT4:8:1124:39007:3718,LH00995:48:23YTGFLT4:8:1139:19542:27623,LH00995:48:23YTGFLT4:8:1177:17487:9183,LH00995:48:23YTGFLT4:8:1215:45018:6199,LH00995:48:23YTGFLT4:8:1248:48618:19356,LH00995:48:23YTGFLT4:8:1286:8702:10725,LH00995:48:23YTGFLT4:8:1298:2982:15811,LH00995:48:23YTGFLT4:8:1380:12642:5050,LH00995:48:23YTGFLT4:8:1380:12650:5036,LH00995:48:23YTGFLT4:8:1457:14737:24513,LH00995:48:23YTGFLT4:8:2107:34735:2065,LH00995:48:23YTGFLT4:8:2150:15489:14354,LH00995:48:23YTGFLT4:8:2187:41693:27707,LH00995:48:23YTGFLT4:8:2256:4131:5638,LH00995:48:23YTGFLT4:8:2307:51522:23938,LH00995:48:23YTGFLT4:8:2406:21848:6871,LH00995:48:23YTGFLT4:8:2441:8880:26026

NF1

+/+

chr17:31226511

chr17:31226448

CDS

duplication/ITD

459

598

low

out-of-frame

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

ENSG00000196712.18

ENST00000356175.7

downstream

upstream

duplicates(37)

GAGCCTCTCTCCGGAAGGGAAAAGGGAACTCCTCTATG___GATAGTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACAT|GtTtCtGtGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCC

ASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYm|flwnppdlptspdqtrsg

LH00995:48:23YTGFLT4:2:1254:25035:3985,LH00995:48:23YTGFLT4:3:2229:5174:28576,LH00995:48:23YTGFLT4:5:2371:21597:2990,LH00995:48:23YTGFLT4:6:2137:44144:26096,LH00995:48:23YTGFLT4:6:2295:25998:6521,LH00995:48:23YTGFLT4:7:1129:2780:2457,LH00995:48:23YTGFLT4:7:1265:40042:25998,LH00995:48:23YTGFLT4:7:2139:19000:24302,LH00995:48:23YTGFLT4:7:2143:11388:28604,LH00995:48:23YTGFLT4:7:2366:6647:22859,LH00995:48:23YTGFLT4:1:1148:51668:20996,LH00995:48:23YTGFLT4:1:1148:51668:20996,LH00995:48:23YTGFLT4:1:1222:47105:13849,LH00995:48:23YTGFLT4:1:1222:47105:13849,LH00995:48:23YTGFLT4:1:1294:34080:16540,LH00995:48:23YTGFLT4:1:1294:34080:16540,LH00995:48:23YTGFLT4:1:2264:14785:3074,LH00995:48:23YTGFLT4:1:2264:14785:3074,LH00995:48:23YTGFLT4:1:2444:22916:28618,LH00995:48:23YTGFLT4:1:2444:22916:28618,LH00995:48:23YTGFLT4:2:1254:25035:3985,LH00995:48:23YTGFLT4:2:1479:43343:27455,LH00995:48:23YTGFLT4:2:1479:43343:27455,LH00995:48:23YTGFLT4:3:2194:5903:6829,LH00995:48:23YTGFLT4:3:2194:5903:6829,LH00995:48:23YTGFLT4:3:2223:13790:6563,LH00995:48:23YTGFLT4:3:2223:13790:6563,LH00995:48:23YTGFLT4:3:2224:48682:4139,LH00995:48:23YTGFLT4:3:2224:48682:4139,LH00995:48:23YTGFLT4:3:2229:5174:28576,LH00995:48:23YTGFLT4:4:2197:42607:5498,LH00995:48:23YTGFLT4:4:2197:42607:5498,LH00995:48:23YTGFLT4:4:2307:44743:24667,LH00995:48:23YTGFLT4:4:2307:44743:24667,LH00995:48:23YTGFLT4:5:2371:21597:2990,LH00995:48:23YTGFLT4:6:2137:44144:26096,LH00995:48:23YTGFLT4:6:2281:18555:27988,LH00995:48:23YTGFLT4:6:2281:18555:27988,LH00995:48:23YTGFLT4:6:2295:25998:6521,LH00995:48:23YTGFLT4:6:2421:39363:21934,LH00995:48:23YTGFLT4:6:2421:39363:21934,LH00995:48:23YTGFLT4:7:1129:2780:2457,LH00995:48:23YTGFLT4:7:1265:40042:25998,LH00995:48:23YTGFLT4:7:1479:11218:24947,LH00995:48:23YTGFLT4:7:1479:11218:24947,LH00995:48:23YTGFLT4:7:1479:11234:24947,LH00995:48:23YTGFLT4:7:1479:11234:24947,LH00995:48:23YTGFLT4:7:2139:19000:24302,LH00995:48:23YTGFLT4:7:2143:11388:28604,LH00995:48:23YTGFLT4:7:2156:22382:20659,LH00995:48:23YTGFLT4:7:2156:22382:20659,LH00995:48:23YTGFLT4:7:2366:6647:22859,LH00995:48:23YTGFLT4:7:2473:24243:15755,LH00995:48:23YTGFLT4:7:2473:24243:15755,LH00995:48:23YTGFLT4:8:2336:7084:25101,LH00995:48:23YTGFLT4:8:2336:7084:25101,LH00995:48:23YTGFLT4:8:2427:21654:15923,LH00995:48:23YTGFLT4:8:2427:21654:15923

CRTC2

FP236383.3

-/-

+/+

chr1:153951483

chr21:8399953

CDS

intron

translocation

8746

11795

low

out-of-frame

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

ENSG00000160741.17

ENSG00000280441.3

ENST00000368633.2

upstream

duplicates(89),mismatches(1)

CTGAGCAGTCCTCAGCCCCAGCTTCAGGGCTCCCACAGCCACCCCTCTCTGCCTGCCTCCTCCTTGGCCCGCCATGTACTGCCCACCACCTCCCTGGGCCACCCCTCACTCAGTGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCC

LSSPQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSa|prplslsl

LH00995:48:23YTGFLT4:1:1111:26297:1855,LH00995:48:23YTGFLT4:1:1149:2731:7726,LH00995:48:23YTGFLT4:1:1170:38052:13555,LH00995:48:23YTGFLT4:1:1196:13353:24162,LH00995:48:23YTGFLT4:1:1208:17641:10823,LH00995:48:23YTGFLT4:1:1221:50349:13779,LH00995:48:23YTGFLT4:1:1304:42283:18726,LH00995:48:23YTGFLT4:1:1313:22083:7726,LH00995:48:23YTGFLT4:1:1322:48747:14732,LH00995:48:23YTGFLT4:1:1440:13224:5834,LH00995:48:23YTGFLT4:1:1461:46587:28478,LH00995:48:23YTGFLT4:1:2226:40940:6731,LH00995:48:23YTGFLT4:1:2439:10126:9576,LH00995:48:23YTGFLT4:2:1102:35480:4783,LH00995:48:23YTGFLT4:2:1140:34541:8763,LH00995:48:23YTGFLT4:2:1158:14308:27637,LH00995:48:23YTGFLT4:2:1335:32171:15643,LH00995:48:23YTGFLT4:2:1431:32907:24485,LH00995:48:23YTGFLT4:2:1472:17576:7684,LH00995:48:23YTGFLT4:2:1473:1445:9141,LH00995:48:23YTGFLT4:2:2155:25990:8104,LH00995:48:23YTGFLT4:2:2216:5288:16105,LH00995:48:23YTGFLT4:2:2272:19623:5484,LH00995:48:23YTGFLT4:2:2276:2982:4713,LH00995:48:23YTGFLT4:2:2321:30836:5876,LH00995:48:23YTGFLT4:2:2426:31993:4265,LH00995:48:23YTGFLT4:2:2471:17868:7600,LH00995:48:23YTGFLT4:2:2478:35374:22817,LH00995:48:23YTGFLT4:3:1172:16217:19762,LH00995:48:23YTGFLT4:3:1176:8427:25073,LH00995:48:23YTGFLT4:3:1254:7456:19356,LH00995:48:23YTGFLT4:3:1432:36078:14648,LH00995:48:23YTGFLT4:3:2103:10708:2541,LH00995:48:23YTGFLT4:3:2164:35188:9043,LH00995:48:23YTGFLT4:3:2257:22811:19776,LH00995:48:23YTGFLT4:3:2267:1793:18431,LH00995:48:23YTGFLT4:3:2275:16784:23770,LH00995:48:23YTGFLT4:4:1127:4252:18207,LH00995:48:23YTGFLT4:4:1145:47485:13247,LH00995:48:23YTGFLT4:4:1148:17229:3550,LH00995:48:23YTGFLT4:4:1253:22163:21262,LH00995:48:23YTGFLT4:4:1365:38174:21136,LH00995:48:23YTGFLT4:4:1401:47615:21458,LH00995:48:23YTGFLT4:4:1466:18450:6759,LH00995:48:23YTGFLT4:4:2109:15400:13191,LH00995:48:23YTGFLT4:4:2238:1752:5470,LH00995:48:23YTGFLT4:4:2251:27729:21346,LH00995:48:23YTGFLT4:4:2255:51376:26152,LH00995:48:23YTGFLT4:4:2328:31880:18698,LH00995:48:23YTGFLT4:4:2338:34371:20323,LH00995:48:23YTGFLT4:4:2428:28935:18585,LH00995:48:23YTGFLT4:4:2451:36669:6002,LH00995:48:23YTGFLT4:5:1290:46644:23532,LH00995:48:23YTGFLT4:5:1339:21079:8511,LH00995:48:23YTGFLT4:5:1361:44241:15391,LH00995:48:23YTGFLT4:5:1446:5733:12672,LH00995:48:23YTGFLT4:5:2126:1275:23280,LH00995:48:23YTGFLT4:5:2132:43222:16792,LH00995:48:23YTGFLT4:5:2152:15570:14858,LH00995:48:23YTGFLT4:5:2390:38392:5708,LH00995:48:23YTGFLT4:5:2408:26759:20505,LH00995:48:23YTGFLT4:5:2457:9721:8258,LH00995:48:23YTGFLT4:5:2470:1283:3760,LH00995:48:23YTGFLT4:6:1198:39096:21108,LH00995:48:23YTGFLT4:6:1210:39476:3018,LH00995:48:23YTGFLT4:6:1221:33619:24961,LH00995:48:23YTGFLT4:6:1233:19186:15881,LH00995:48:23YTGFLT4:6:1233:19194:15867,LH00995:48:23YTGFLT4:6:1278:46870:29277,LH00995:48:23YTGFLT4:6:1312:11638:18137,LH00995:48:23YTGFLT4:6:1334:9551:27217,LH00995:48:23YTGFLT4:6:1334:9567:27217,LH00995:48:23YTGFLT4:6:2198:27115:8791,LH00995:48:23YTGFLT4:6:2265:44136:25129,LH00995:48:23YTGFLT4:6:2271:36952:9604,LH00995:48:23YTGFLT4:6:2274:12229:2037,LH00995:48:23YTGFLT4:6:2313:39209:26600,LH00995:48:23YTGFLT4:6:2376:3581:23938,LH00995:48:23YTGFLT4:7:1146:10975:3424,LH00995:48:23YTGFLT4:7:1147:11646:19889,LH00995:48:23YTGFLT4:7:1159:4948:15293,LH00995:48:23YTGFLT4:7:1230:13912:21654,LH00995:48:23YTGFLT4:7:1418:30698:18081,LH00995:48:23YTGFLT4:7:1448:50292:26460,LH00995:48:23YTGFLT4:7:1496:7472:6745,LH00995:48:23YTGFLT4:7:2115:47712:3662,LH00995:48:23YTGFLT4:7:2202:48229:11874,LH00995:48:23YTGFLT4:7:2291:6072:16932,LH00995:48:23YTGFLT4:7:2325:35391:15082,LH00995:48:23YTGFLT4:7:2337:13491:3550,LH00995:48:23YTGFLT4:7:2337:37842:11761,LH00995:48:23YTGFLT4:7:2461:37316:5162,LH00995:48:23YTGFLT4:7:2462:19591:16946,LH00995:48:23YTGFLT4:8:1120:25941:1939,LH00995:48:23YTGFLT4:8:1211:9519:26881,LH00995:48:23YTGFLT4:8:1234:14980:22971,LH00995:48:23YTGFLT4:8:1234:14988:22957,LH00995:48:23YTGFLT4:8:1274:31184:6759,LH00995:48:23YTGFLT4:8:1412:44362:18740,LH00995:48:23YTGFLT4:8:2112:39419:7964,LH00995:48:23YTGFLT4:8:2152:24121:8483,LH00995:48:23YTGFLT4:8:2161:16695:25634,LH00995:48:23YTGFLT4:8:2218:11339:13247,LH00995:48:23YTGFLT4:8:2348:20982:15965,LH00995:48:23YTGFLT4:8:2372:8823:4825,LH00995:48:23YTGFLT4:8:2374:24760:28058,LH00995:48:23YTGFLT4:8:2478:23668:27679,LH00995:48:23YTGFLT4:8:2484:43578:28366,LH00995:48:23YTGFLT4:8:2498:32632:16918

DES

FP671120.4

+/+

chr2:219426085

chr21:8216919

3'UTR

intron

translocation

18203

9248

low

stop-codon

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

ENSG00000175084.12

ENSG00000278996.1

ENST00000373960.4

downstream

upstream

duplicates(10)

AGCATGAAGTGCTCTAAAGACAGAGACCCTCTGCCACCAGAGACCGTCCTCACCCCTGTCCTCACTGCTCCCTGAAGCCAGCCTTCTTCCATCCCAGGACACCACACCCAGC|CCCGCGCCCTCTCTCTCTCTCTCTCCCCCG

LH00995:48:23YTGFLT4:1:1149:23272:20491,LH00995:48:23YTGFLT4:1:1453:19356:13961,LH00995:48:23YTGFLT4:1:2314:32106:24499,LH00995:48:23YTGFLT4:2:1106:35989:4797,LH00995:48:23YTGFLT4:2:1171:48739:9337,LH00995:48:23YTGFLT4:2:1454:5975:11159,LH00995:48:23YTGFLT4:2:2293:11379:23994,LH00995:48:23YTGFLT4:2:2422:46773:2878,LH00995:48:23YTGFLT4:3:1174:2934:6171,LH00995:48:23YTGFLT4:3:1174:2942:6157,LH00995:48:23YTGFLT4:3:2212:46814:1771,LH00995:48:23YTGFLT4:3:2448:46029:9800,LH00995:48:23YTGFLT4:4:2174:13483:18782,LH00995:48:23YTGFLT4:4:2193:51255:20281,LH00995:48:23YTGFLT4:4:2217:49233:27567,LH00995:48:23YTGFLT4:4:2371:34614:6871,LH00995:48:23YTGFLT4:4:2492:14793:5862,LH00995:48:23YTGFLT4:5:1482:25238:18852,LH00995:48:23YTGFLT4:5:2188:6469:21794,LH00995:48:23YTGFLT4:6:1239:45293:24583,LH00995:48:23YTGFLT4:6:2407:27835:16596,LH00995:48:23YTGFLT4:7:2123:32284:21920,LH00995:48:23YTGFLT4:7:2137:34525:27932,LH00995:48:23YTGFLT4:7:2388:22665:9604,LH00995:48:23YTGFLT4:7:2472:49330:27735,LH00995:48:23YTGFLT4:8:1107:31030:12126,LH00995:48:23YTGFLT4:8:1168:52007:11355,LH00995:48:23YTGFLT4:8:1493:24283:21906,LH00995:48:23YTGFLT4:8:2186:35973:18333

MLXIP

FP236383.3

+/+

chr12:122133580

chr21:8399958

CDS

intron

translocation

44272

11795

low

out-of-frame

ENSG00000175727.14

ENSG00000280441.3

ENST00000319080.12

downstream

upstream

duplicates(199),mismatches(38)

CCTGGCTCACATGGATGAGCAGGGCTGTGAACACACCTCCCGGACTGAGGACCCGTTTATCCAGCCCACGGACTTCGGTCCCTCAGAGCCGCCACTGAGTGTCCCGCAGCCCTTCCTCCCTGTCTTCACCATGCCCCTGCTGTCTCCCAGCCCCGC|GCCCTCTCTCTCTCTCTCTCCCCC

LAHMDEQGCEHTSRTEDPFIQPTDFGPSEPPLSVPQPFLPVFTMPLLSPSPa|pslslsp

LH00995:48:23YTGFLT4:1:1122:20732:6619,LH00995:48:23YTGFLT4:1:1134:40811:3256,LH00995:48:23YTGFLT4:1:1142:20618:11663,LH00995:48:23YTGFLT4:1:1166:44168:13639,LH00995:48:23YTGFLT4:1:1187:2788:23518,LH00995:48:23YTGFLT4:1:1192:45730:12532,LH00995:48:23YTGFLT4:1:1202:22325:23139,LH00995:48:23YTGFLT4:1:1216:19372:13233,LH00995:48:23YTGFLT4:1:1224:45163:3480,LH00995:48:23YTGFLT4:1:1254:8006:1560,LH00995:48:23YTGFLT4:1:1287:36636:3116,LH00995:48:23YTGFLT4:1:1292:36183:1378,LH00995:48:23YTGFLT4:1:1353:6145:2681,LH00995:48:23YTGFLT4:1:1364:40139:13611,LH00995:48:23YTGFLT4:1:1371:36806:28548,LH00995:48:23YTGFLT4:1:1371:36814:28562,LH00995:48:23YTGFLT4:1:1371:36823:28548,LH00995:48:23YTGFLT4:1:1408:3136:20533,LH00995:48:23YTGFLT4:1:1408:3144:20547,LH00995:48:23YTGFLT4:1:1465:4746:2135,LH00995:48:23YTGFLT4:1:1483:32713:2401,LH00995:48:23YTGFLT4:1:1496:27058:6058,LH00995:48:23YTGFLT4:1:2101:16767:15503,LH00995:48:23YTGFLT4:1:2128:44807:23322,LH00995:48:23YTGFLT4:1:2159:51393:29011,LH00995:48:23YTGFLT4:1:2213:50122:27651,LH00995:48:23YTGFLT4:1:2235:32252:19847,LH00995:48:23YTGFLT4:1:2240:24097:3452,LH00995:48:23YTGFLT4:1:2242:31596:25073,LH00995:48:23YTGFLT4:1:2317:41531:17955,LH00995:48:23YTGFLT4:1:2341:2804:22677,LH00995:48:23YTGFLT4:1:2379:20699:14774,LH00995:48:23YTGFLT4:1:2390:11347:12252,LH00995:48:23YTGFLT4:1:2404:30626:20309,LH00995:48:23YTGFLT4:1:2435:18580:15699,LH00995:48:23YTGFLT4:1:2439:49734:14172,LH00995:48:23YTGFLT4:1:2442:34954:21192,LH00995:48:23YTGFLT4:2:1152:27915:8609,LH00995:48:23YTGFLT4:2:1167:32996:26180,LH00995:48:23YTGFLT4:2:1180:5692:14984,LH00995:48:23YTGFLT4:2:1182:33886:17156,LH00995:48:23YTGFLT4:2:1271:37073:7628,LH00995:48:23YTGFLT4:2:1276:27907:28548,LH00995:48:23YTGFLT4:2:1288:5029:10949,LH00995:48:23YTGFLT4:2:1289:30561:26558,LH00995:48:23YTGFLT4:2:1332:15222:26222,LH00995:48:23YTGFLT4:2:1346:46199:15054,LH00995:48:23YTGFLT4:2:1407:44128:1546,LH00995:48:23YTGFLT4:2:1432:39088:4895,LH00995:48:23YTGFLT4:2:1438:25755:18123,LH00995:48:23YTGFLT4:2:1448:4996:20169,LH00995:48:23YTGFLT4:2:1465:35326:29011,LH00995:48:23YTGFLT4:2:1480:35925:22621,LH00995:48:23YTGFLT4:2:1480:35933:22607,LH00995:48:23YTGFLT4:2:2103:39339:19931,LH00995:48:23YTGFLT4:2:2105:49006:23392,LH00995:48:23YTGFLT4:2:2105:49022:23392,LH00995:48:23YTGFLT4:2:2116:13806:22145,LH00995:48:23YTGFLT4:2:2141:17034:27007,LH00995:48:23YTGFLT4:2:2149:40382:9884,LH00995:48:23YTGFLT4:2:2170:39274:22313,LH00995:48:23YTGFLT4:2:2219:3605:15741,LH00995:48:23YTGFLT4:2:2222:45366:15629,LH00995:48:23YTGFLT4:2:2222:7650:3158,LH00995:48:23YTGFLT4:2:2237:18418:25003,LH00995:48:23YTGFLT4:2:2254:43553:14704,LH00995:48:23YTGFLT4:2:2305:17180:24120,LH00995:48:23YTGFLT4:2:2330:49208:22705,LH00995:48:23YTGFLT4:2:2363:44006:26110,LH00995:48:23YTGFLT4:2:2374:38489:28156,LH00995:48:23YTGFLT4:2:2457:28506:26054,LH00995:48:23YTGFLT4:2:2476:45794:29347,LH00995:48:23YTGFLT4:2:2484:6703:6787,LH00995:48:23YTGFLT4:3:1141:27576:24471,LH00995:48:23YTGFLT4:3:1224:9713:8637,LH00995:48:23YTGFLT4:3:1241:27050:18291,LH00995:48:23YTGFLT4:3:1245:32446:23770,LH00995:48:23YTGFLT4:3:1264:48610:8076,LH00995:48:23YTGFLT4:3:1295:21880:22509,LH00995:48:23YTGFLT4:3:1326:37696:9884,LH00995:48:23YTGFLT4:3:1333:37818:2724,LH00995:48:23YTGFLT4:3:1410:35326:27693,LH00995:48:23YTGFLT4:3:1411:40277:15755,LH00995:48:23YTGFLT4:3:1433:31151:20267,LH00995:48:23YTGFLT4:3:1481:40334:1504,LH00995:48:23YTGFLT4:3:2127:2100:22159,LH00995:48:23YTGFLT4:3:2141:31920:9043,LH00995:48:23YTGFLT4:3:2243:30342:12756,LH00995:48:23YTGFLT4:3:2276:34509:1140,LH00995:48:23YTGFLT4:3:2348:32810:11846,LH00995:48:23YTGFLT4:3:2367:47971:1364,LH00995:48:23YTGFLT4:3:2389:52040:25255,LH00995:48:23YTGFLT4:3:2431:33894:15068,LH00995:48:23YTGFLT4:3:2443:29647:27834,LH00995:48:23YTGFLT4:3:2444:40293:8609,LH00995:48:23YTGFLT4:3:2458:13475:12938,LH00995:48:23YTGFLT4:3:2488:40463:2065,LH00995:48:23YTGFLT4:3:2495:13993:21822,LH00995:48:23YTGFLT4:4:1214:10117:3060,LH00995:48:23YTGFLT4:4:1217:51158:9127,LH00995:48:23YTGFLT4:4:1240:48383:2808,LH00995:48:23YTGFLT4:4:1240:48391:2822,LH00995:48:23YTGFLT4:4:1260:2675:4041,LH00995:48:23YTGFLT4:4:1283:31750:3620,LH00995:48:23YTGFLT4:4:1313:45705:5652,LH00995:48:23YTGFLT4:4:1316:9058:26138,LH00995:48:23YTGFLT4:4:1318:31265:26264,LH00995:48:23YTGFLT4:4:1345:36903:16357,LH00995:48:23YTGFLT4:4:1357:44783:28997,LH00995:48:23YTGFLT4:4:1409:8111:13569,LH00995:48:23YTGFLT4:4:1415:31750:8525,LH00995:48:23YTGFLT4:4:1432:2472:18319,LH00995:48:23YTGFLT4:4:1437:32357:6969,LH00995:48:23YTGFLT4:4:1473:6469:22775,LH00995:48:23YTGFLT4:4:1480:34784:15685,LH00995:48:23YTGFLT4:4:1480:34792:15671,LH00995:48:23YTGFLT4:4:2101:33967:15867,LH00995:48:23YTGFLT4:4:2171:34031:20491,LH00995:48:23YTGFLT4:4:2261:43529:14214,LH00995:48:23YTGFLT4:4:2317:7949:19482,LH00995:48:23YTGFLT4:4:2323:3225:4573,LH00995:48:23YTGFLT4:4:2329:39185:15124,LH00995:48:23YTGFLT4:4:2348:31718:28198,LH00995:48:23YTGFLT4:4:2361:28409:4307,LH00995:48:23YTGFLT4:4:2383:40641:25970,LH00995:48:23YTGFLT4:4:2393:28878:3214,LH00995:48:23YTGFLT4:4:2395:36636:29235,LH00995:48:23YTGFLT4:4:2421:3047:14606,LH00995:48:23YTGFLT4:4:2436:12172:1799,LH00995:48:23YTGFLT4:5:1101:47000:3859,LH00995:48:23YTGFLT4:5:1121:3435:28674,LH00995:48:23YTGFLT4:5:1130:51376:18193,LH00995:48:23YTGFLT4:5:1189:40204:23840,LH00995:48:23YTGFLT4:5:1190:21994:3116,LH00995:48:23YTGFLT4:5:1212:29186:19804,LH00995:48:23YTGFLT4:5:1249:2416:15166,LH00995:48:23YTGFLT4:5:1295:26718:8300,LH00995:48:23YTGFLT4:5:1378:37923:17170,LH00995:48:23YTGFLT4:5:1394:6242:16610,LH00995:48:23YTGFLT4:5:1412:5903:14200,LH00995:48:23YTGFLT4:5:1417:48124:27834,LH00995:48:23YTGFLT4:5:1424:5239:12462,LH00995:48:23YTGFLT4:5:1444:27325:2513,LH00995:48:23YTGFLT4:5:1451:34412:9632,LH00995:48:23YTGFLT4:5:1457:8378:21794,LH00995:48:23YTGFLT4:5:2116:22527:29543,LH00995:48:23YTGFLT4:5:2131:22722:22593,LH00995:48:23YTGFLT4:5:2141:25844:15979,LH00995:48:23YTGFLT4:5:2159:13879:24401,LH00995:48:23YTGFLT4:5:2173:32672:21780,LH00995:48:23YTGFLT4:5:2236:36353:15853,LH00995:48:23YTGFLT4:5:2276:4317:19945,LH00995:48:23YTGFLT4:5:2344:24833:24597,LH00995:48:23YTGFLT4:5:2346:44087:8455,LH00995:48:23YTGFLT4:5:2349:16258:11425,LH00995:48:23YTGFLT4:5:2392:18790:5470,LH00995:48:23YTGFLT4:5:2393:37591:25143,LH00995:48:23YTGFLT4:5:2428:30229:18669,LH00995:48:23YTGFLT4:5:2482:5288:14592,LH00995:48:23YTGFLT4:6:1192:47380:2808,LH00995:48:23YTGFLT4:6:1193:48602:22915,LH00995:48:23YTGFLT4:6:1259:8321:23518,LH00995:48:23YTGFLT4:6:1374:20448:27455,LH00995:48:23YTGFLT4:6:1383:33781:16161,LH00995:48:23YTGFLT4:6:1401:14640:12546,LH00995:48:23YTGFLT4:6:1449:51328:24106,LH00995:48:23YTGFLT4:6:1469:6534:25718,LH00995:48:23YTGFLT4:6:1469:6542:25704,LH00995:48:23YTGFLT4:6:1478:10037:10907,LH00995:48:23YTGFLT4:6:1479:30893:3592,LH00995:48:23YTGFLT4:6:2103:51279:18417,LH00995:48:23YTGFLT4:6:2111:37178:25353,LH00995:48:23YTGFLT4:6:2148:12642:14158,LH00995:48:23YTGFLT4:6:2184:37591:14578,LH00995:48:23YTGFLT4:6:2231:40940:20323,LH00995:48:23YTGFLT4:6:2237:24785:14676,LH00995:48:23YTGFLT4:6:2265:42655:9309,LH00995:48:23YTGFLT4:6:2275:42591:10739,LH00995:48:23YTGFLT4:6:2293:19745:25788,LH00995:48:23YTGFLT4:6:2332:25124:23980,LH00995:48:23YTGFLT4:6:2348:44824:12560,LH00995:48:23YTGFLT4:6:2355:37081:27567,LH00995:48:23YTGFLT4:6:2396:5563:14480,LH00995:48:23YTGFLT4:6:2410:31863:2808,LH00995:48:23YTGFLT4:6:2436:21807:4139,LH00995:48:23YTGFLT4:6:2436:9616:25676,LH00995:48:23YTGFLT4:6:2437:34363:2990,LH00995:48:23YTGFLT4:6:2441:37421:5484,LH00995:48:23YTGFLT4:6:2475:50292:11299,LH00995:48:23YTGFLT4:7:1103:10312:15811,LH00995:48:23YTGFLT4:7:1122:23401:16960,LH00995:48:23YTGFLT4:7:1161:46013:4391,LH00995:48:23YTGFLT4:7:1165:25917:10697,LH00995:48:23YTGFLT4:7:1166:29606:27679,LH00995:48:23YTGFLT4:7:1228:3071:23560,LH00995:48:23YTGFLT4:7:1232:38424:15797,LH00995:48:23YTGFLT4:7:1274:45091:6857,LH00995:48:23YTGFLT4:7:1323:3823:16652,LH00995:48:23YTGFLT4:7:1324:38400:2443,LH00995:48:23YTGFLT4:7:1339:35399:14592,LH00995:48:23YTGFLT4:7:1349:13645:16371,LH00995:48:23YTGFLT4:7:1349:43618:2934,LH00995:48:23YTGFLT4:7:1403:39808:16652,LH00995:48:23YTGFLT4:7:1441:52202:3901,LH00995:48:23YTGFLT4:7:1452:25262:20491,LH00995:48:23YTGFLT4:7:1452:25270:20477,LH00995:48:23YTGFLT4:7:1460:6566:14956,LH00995:48:23YTGFLT4:7:1464:2893:17731,LH00995:48:23YTGFLT4:7:1472:49257:3788,LH00995:48:23YTGFLT4:7:1491:20756:25213,LH00995:48:23YTGFLT4:7:2101:30488:5946,LH00995:48:23YTGFLT4:7:2116:22244:17478,LH00995:48:23YTGFLT4:7:2134:32494:8160,LH00995:48:23YTGFLT4:7:2185:36410:17128,LH00995:48:23YTGFLT4:7:2226:47809:19917,LH00995:48:23YTGFLT4:7:2264:19146:3536,LH00995:48:23YTGFLT4:7:2271:22600:10893,LH00995:48:23YTGFLT4:7:2319:49176:15699,LH00995:48:23YTGFLT4:7:2349:48577:14298,LH00995:48:23YTGFLT4:7:2427:9195:19538,LH00995:48:23YTGFLT4:7:2455:12156:21948,LH00995:48:23YTGFLT4:7:2489:1364:14578,LH00995:48:23YTGFLT4:7:2497:41984:8567,LH00995:48:23YTGFLT4:8:1103:32956:18768,LH00995:48:23YTGFLT4:8:1106:12755:27469,LH00995:48:23YTGFLT4:8:1132:23870:8356,LH00995:48:23YTGFLT4:8:1153:14923:5694,LH00995:48:23YTGFLT4:8:1155:42615:24821,LH00995:48:23YTGFLT4:8:1171:26095:1953,LH00995:48:23YTGFLT4:8:1173:19923:1967,LH00995:48:23YTGFLT4:8:1191:41685:26376,LH00995:48:23YTGFLT4:8:1236:10449:9856,LH00995:48:23YTGFLT4:8:1237:5983:1785,LH00995:48:23YTGFLT4:8:1257:40803:28268,LH00995:48:23YTGFLT4:8:1281:46207:15713,LH00995:48:23YTGFLT4:8:1286:50883:25101,LH00995:48:23YTGFLT4:8:1333:8394:11369,LH00995:48:23YTGFLT4:8:1365:6606:5694,LH00995:48:23YTGFLT4:8:1366:31014:6521,LH00995:48:23YTGFLT4:8:1412:40285:18487,LH00995:48:23YTGFLT4:8:1444:32567:7165,LH00995:48:23YTGFLT4:8:2121:14381:28464,LH00995:48:23YTGFLT4:8:2222:20998:11005,LH00995:48:23YTGFLT4:8:2234:46102:19426,LH00995:48:23YTGFLT4:8:2330:36612:26951,LH00995:48:23YTGFLT4:8:2349:29938:24499,LH00995:48:23YTGFLT4:8:2374:20481:17955,LH00995:48:23YTGFLT4:8:2376:7116:26923,LH00995:48:23YTGFLT4:8:2379:4729:16540,LH00995:48:23YTGFLT4:8:2418:12925:3802,LH00995:48:23YTGFLT4:8:2420:11193:8903,LH00995:48:23YTGFLT4:8:2445:29097:10682,LH00995:48:23YTGFLT4:8:2449:17342:4335,LH00995:48:23YTGFLT4:8:2452:14535:18081,LH00995:48:23YTGFLT4:8:2467:5199:1827,LH00995:48:23YTGFLT4:8:2490:16581:24316

CFAP44

-/-

chr3:113403974

chr3:113404016

CDS

CDS/splice-site

duplication/ITD

low

|WD_domain__G-beta_repeat(100%)

ENSG00000206530.11

ENST00000393845.9

upstream

downstream

duplicates(11)

GATTTGGCAAAACAATCACTACTGATATAGAAGGCTACATGGAGCTCCCAGATGGGAAG___GTGCTCTCAGGGTCAGAATGGGGCAACATGCTGCTTTGGGAAG|...GTGCTCTCAGGGTCAGAATGGGGCAACATGCTGCTTTGGGAAG

LH00995:48:23YTGFLT4:1:1369:22714:23784,LH00995:48:23YTGFLT4:1:2271:16889:13667,LH00995:48:23YTGFLT4:3:1317:39120:13891,LH00995:48:23YTGFLT4:3:2422:5538:17352,LH00995:48:23YTGFLT4:4:1109:37462:26628,LH00995:48:23YTGFLT4:4:2158:44743:9898,LH00995:48:23YTGFLT4:4:2158:44743:9898,LH00995:48:23YTGFLT4:4:2232:15967:19608,LH00995:48:23YTGFLT4:5:1418:40762:27441,LH00995:48:23YTGFLT4:6:1464:12520:19804,LH00995:48:23YTGFLT4:6:2305:50948:28016,LH00995:48:23YTGFLT4:7:2336:46288:21990,LH00995:48:23YTGFLT4:8:2293:33643:2443,LH00995:48:23YTGFLT4:8:2343:45293:19314,LH00995:48:23YTGFLT4:1:1369:22714:23784,LH00995:48:23YTGFLT4:1:2271:16889:13667,LH00995:48:23YTGFLT4:3:1317:39120:13891,LH00995:48:23YTGFLT4:3:2422:5538:17352,LH00995:48:23YTGFLT4:4:1109:37462:26628,LH00995:48:23YTGFLT4:4:2232:15967:19608,LH00995:48:23YTGFLT4:5:1418:40762:27441,LH00995:48:23YTGFLT4:6:1464:12520:19804,LH00995:48:23YTGFLT4:6:2305:50948:28016,LH00995:48:23YTGFLT4:7:2336:46288:21990,LH00995:48:23YTGFLT4:8:2293:33643:2443,LH00995:48:23YTGFLT4:8:2343:45293:19314

ZFP62

-/-

chr5:180850041

chr5:180850124

CDS

duplication/ITD

344

388

low

in-frame

C2H2-type_zinc_finger(33%),Zinc_finger__C2H2_type(51%)|C2H2-type_zinc_finger(66%),Zinc_finger__C2H2_type(52%)

ENSG00000196670.14

ENST00000512132.5

upstream

downstream

duplicates(20),mismappers(1)

CTTCAACACAGAACTATTCATACCGGAGAGAGACCTTATGTATGTGATGTGTGTGGGAAAACGTTCAGAAACAATGCAGGCCTCAAAGTCCACAGGAGGCTCCATACTGGGGAAAAACCATATAAGTGTGATGTGTGTGGGAAAaC|GTTCAGAAACAATGCAGGCCTCAAAGTCCACAGGAGGCTCCATACTGGGGAAAAACCATATAAGTGTGATGTGTGTGGGAAAaC

LQHRTIHTGERPYVCDVCGKTFRNNAGLKVHRRLHTGEKPYKCDVCGKt|FRNNAGLKVHRRLHTGEKPYKCDVCGK

LH00995:48:23YTGFLT4:2:1309:31418:6100,LH00995:48:23YTGFLT4:2:1309:31418:6100,LH00995:48:23YTGFLT4:2:1379:43958:15461,LH00995:48:23YTGFLT4:3:1490:47032:11677,LH00995:48:23YTGFLT4:4:1294:29542:3494,LH00995:48:23YTGFLT4:4:1397:20893:20519,LH00995:48:23YTGFLT4:4:1467:12350:19875,LH00995:48:23YTGFLT4:6:1269:10166:27217,LH00995:48:23YTGFLT4:6:1269:10166:27217,LH00995:48:23YTGFLT4:7:2226:13515:9505,LH00995:48:23YTGFLT4:8:1252:30375:19706,LH00995:48:23YTGFLT4:8:1451:19114:19426,LH00995:48:23YTGFLT4:8:1455:20327:3957,LH00995:48:23YTGFLT4:8:1460:24857:26881,LH00995:48:23YTGFLT4:2:2302:21905:26811,LH00995:48:23YTGFLT4:3:2289:23846:29053,LH00995:48:23YTGFLT4:7:1249:24688:8062,LH00995:48:23YTGFLT4:7:2392:48958:8174,LH00995:48:23YTGFLT4:8:1387:37348:8693,LH00995:48:23YTGFLT4:2:1379:43958:15461,LH00995:48:23YTGFLT4:3:1490:47032:11677,LH00995:48:23YTGFLT4:4:1294:29542:3494,LH00995:48:23YTGFLT4:4:1397:20893:20519,LH00995:48:23YTGFLT4:4:1467:12350:19875,LH00995:48:23YTGFLT4:7:2226:13515:9505,LH00995:48:23YTGFLT4:8:1252:30375:19706,LH00995:48:23YTGFLT4:8:1451:19114:19426,LH00995:48:23YTGFLT4:8:1455:20327:3957,LH00995:48:23YTGFLT4:8:1460:24857:26881,LH00995:48:23YTGFLT4:1:1140:46620:9954,LH00995:48:23YTGFLT4:2:1330:29364:20141,LH00995:48:23YTGFLT4:2:1330:29372:20155,LH00995:48:23YTGFLT4:6:1171:13895:28688,LH00995:48:23YTGFLT4:6:1375:21743:20057,LH00995:48:23YTGFLT4:6:1393:9114:15643

STAG3

+/+

chr7:100198950

chr7:100198883

CDS

duplication/ITD

low

out-of-frame

STAG_domain__(100%)|

ENSG00000066923.18

ENST00000426455.5

downstream

upstream

duplicates(29)

TGAGTGCGAGATAAGAAcGATGGGTGGAAGAGAGCAACGCCAGAGCCCAGG?GCCCAGAGGACTTTCTTCCAGCTTCTGCTGTCCTTCTTTGTGGA|AGAGAGCAACGCCAGAGCCCAGG?GCCCAGAGGACTTT

ECEIRtMGGREQRQSPGAQRTFFQLLLSFFVe|esnaraq?prgl

LH00995:48:23YTGFLT4:4:2202:11477:2331,LH00995:48:23YTGFLT4:4:2202:11477:2331,LH00995:48:23YTGFLT4:4:2209:43108:4433,LH00995:48:23YTGFLT4:4:2209:43108:4433,LH00995:48:23YTGFLT4:4:2269:42955:10444,LH00995:48:23YTGFLT4:4:2269:42955:10444,LH00995:48:23YTGFLT4:4:2279:16800:23013,LH00995:48:23YTGFLT4:4:2279:16800:23013,LH00995:48:23YTGFLT4:4:2279:16800:23013,LH00995:48:23YTGFLT4:5:1255:40342:13625,LH00995:48:23YTGFLT4:5:1255:40342:13625,LH00995:48:23YTGFLT4:5:1255:40342:13625,LH00995:48:23YTGFLT4:5:1375:6485:8455,LH00995:48:23YTGFLT4:5:1375:6485:8455,LH00995:48:23YTGFLT4:5:1375:6493:8441,LH00995:48:23YTGFLT4:5:1375:6493:8441,LH00995:48:23YTGFLT4:5:2325:4244:26124,LH00995:48:23YTGFLT4:5:2325:4244:26124,LH00995:48:23YTGFLT4:5:2325:4244:26124,LH00995:48:23YTGFLT4:7:2296:38902:3760,LH00995:48:23YTGFLT4:7:2296:38902:3760,LH00995:48:23YTGFLT4:7:2452:42615:9043,LH00995:48:23YTGFLT4:7:2452:42615:9043,LH00995:48:23YTGFLT4:8:1134:29396:26082,LH00995:48:23YTGFLT4:8:1134:29396:26082,LH00995:48:23YTGFLT4:8:1134:29396:26082,LH00995:48:23YTGFLT4:8:1408:45552:20127,LH00995:48:23YTGFLT4:8:1408:45552:20127,LH00995:48:23YTGFLT4:8:1408:45552:20127,LH00995:48:23YTGFLT4:2:2241:26799:19202,LH00995:48:23YTGFLT4:2:2241:26799:19202,LH00995:48:23YTGFLT4:2:2241:26799:19202,LH00995:48:23YTGFLT4:2:2241:26799:19202,LH00995:48:23YTGFLT4:2:2241:26799:19202,LH00995:48:23YTGFLT4:4:1411:42615:4195,LH00995:48:23YTGFLT4:4:1411:42615:4195,LH00995:48:23YTGFLT4:4:1411:42615:4195,LH00995:48:23YTGFLT4:2:2155:22875:5540,LH00995:48:23YTGFLT4:2:2155:22875:5540

C1QTNF3

AMACR

-/-

chr5:34020587

chr5:34005899

CDS

CDS/splice-site

deletion/read-through

176

1519

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(10)

TTTGGGGCCCCAGTATCAG___GTGTGTATTTCTTCACCTTCAGCATGATGAAGCATGAGGATGTTGAGGAAGTGTATGTGTACCTTATGCACAATGGCAACACAGTCTTCAGCATGTACAG___CTATGAAATGAAGGGCAAATCAGATACATCCAGCAATCATGCTGTGCTGAAGCTAGCCAAAGGGGATGAGGTTTGGCTGCGAATGGGCAATGGCGCTCTCCATGGGGACCACCAACGCTTCTCCACCTTTGCAGGATTCCTGCTCTTTGAAACTAA|GTGTCATGGAGAAACTCCAGCTGGGCCCAGAGATTCTGCAGCGGGAAAATCCAAGGCTTATTTATGCCAGGCTGAGTGGATTTGGCCAGTCAGGAAGCTTCTGCCGGTTAGCTGGCCACGATATCAACTATTTGGCTTTGTCAG___GTGTTCTCTCAAAAATTGGCAGAAGTGGTGAGAATCCGTAT

FGAPVSGVYFFTFSMMKHEDVEEVYVYLMHNGNTVFSMYSYEMKGKSDTSSNHAVLKLAKGDEVWLRMGNGALHGDHQRFSTFAGFLLFETk|chgetpagprdsaagkskaylcqaewiwpvrkllpvswpryqlfgfvrcslknwqkw*

LH00995:48:23YTGFLT4:1:1137:22956:21710,LH00995:48:23YTGFLT4:1:1286:16881:14970,LH00995:48:23YTGFLT4:1:1325:39994:4475,LH00995:48:23YTGFLT4:1:1440:14680:6759,LH00995:48:23YTGFLT4:2:1415:32308:3971,LH00995:48:23YTGFLT4:2:2422:42121:24639,LH00995:48:23YTGFLT4:3:1324:17156:23574,LH00995:48:23YTGFLT4:3:1383:1299:18810,LH00995:48:23YTGFLT4:4:1252:43489:19804,LH00995:48:23YTGFLT4:4:1384:27851:24443,LH00995:48:23YTGFLT4:4:2301:20392:15755,LH00995:48:23YTGFLT4:5:1259:36782:3816,LH00995:48:23YTGFLT4:6:1279:23142:27525,LH00995:48:23YTGFLT4:7:1472:50114:20603,LH00995:48:23YTGFLT4:2:1382:10085:25227,LH00995:48:23YTGFLT4:2:1382:10093:25213,LH00995:48:23YTGFLT4:7:1316:16541:15138,LH00995:48:23YTGFLT4:7:1316:16549:15152

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48620851

CDS/splice-site

deletion/read-through

234

low

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(12),low_entropy(1)

CCGTGCCTGACACCTGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CCTAAACTCTACAGATCTGTAATTGAAGATGTAATTGAAGGAGTTCGGAATCTATTTGCTGAAGAAGGTAT?GAGGAACAAGTTTTAAAAGACTTG...___TCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCA

VPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQ|PKLYRSVIEDVIEGVRNLFAEEG?EEQVLKD

LH00995:48:23YTGFLT4:2:2104:17318:16680,LH00995:48:23YTGFLT4:2:2343:19736:4979,LH00995:48:23YTGFLT4:4:1280:14098:11047,LH00995:48:23YTGFLT4:4:2444:48140:2611,LH00995:48:23YTGFLT4:6:1471:42664:13975,LH00995:48:23YTGFLT4:6:2101:5514:20925,LH00995:48:23YTGFLT4:7:1496:15028:8455,LH00995:48:23YTGFLT4:7:2358:40083:3424,LH00995:48:23YTGFLT4:8:2171:46814:5414,LH00995:48:23YTGFLT4:1:1142:41466:12798,LH00995:48:23YTGFLT4:1:1253:51449:18487,LH00995:48:23YTGFLT4:1:2133:15780:20911,LH00995:48:23YTGFLT4:3:2431:40576:14956,LH00995:48:23YTGFLT4:4:1159:27818:10094,LH00995:48:23YTGFLT4:4:2229:40398:23672,LH00995:48:23YTGFLT4:4:2368:40746:11047,LH00995:48:23YTGFLT4:5:1169:22382:4657,LH00995:48:23YTGFLT4:6:1128:5126:25662,LH00995:48:23YTGFLT4:6:2384:10935:23420,LH00995:48:23YTGFLT4:8:2127:43529:25816,LH00995:48:23YTGFLT4:8:2163:11258:16694

STON1

GTF2A1L

+/+

chr2:48591855

chr2:48621167

CDS/splice-site

deletion/read-through

234

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(2)

TGTGCCTCAAGGACAGAGGTCAGGTCTCTGGGAGTGGAGAGTGATGTCCAGCCACAGAAACATGTTCAGCAGCGAGCTTGCTACAACATCCAG|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGCCGCACAGCTTGCACCAAACATTGCAATCGTCAACAG___CATCATTAGTTATTCCTGCTGGTAGAACTCTTCCAAGTTTTACCACAGCAGAACTG___GGCACTTCAAACTCCAGTGCAAACTTTACTTTTCCTGGTTATCCCATTCATGT

CASRTEVRSLGVESDVQPQKHVQQRACYNIQ|LWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLPSFTTAELGTSNSSANFTFPGYPIH

LH00995:48:23YTGFLT4:1:1167:11614:26979,LH00995:48:23YTGFLT4:1:2437:9406:12672,LH00995:48:23YTGFLT4:2:2121:44451:26320,LH00995:48:23YTGFLT4:7:2102:44290:8469,LH00995:48:23YTGFLT4:3:1203:37866:1406,LH00995:48:23YTGFLT4:3:1302:13912:3830,LH00995:48:23YTGFLT4:3:2355:17504:14172,LH00995:48:23YTGFLT4:7:1389:45139:24793

STON1

GTF2A1L

+/+

chr2:48582563

chr2:48621167

CDS/splice-site

deletion/read-through

144

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(3)

CTGTGGGGTCAGCAAAATATGAGAGTGCCTACCAGGCAGTGGTATGGAAGATAGATCGGCTTCCAGACAAAAATTCAA|CTCTGGGAAACCAAGGTTTTGCAGTCTAAAGCAACAGAAGACTTCTTCAGAAATAGCATCCAATCACCTCTGTTTACTCTTCAGTTGC

VGSAKYESAYQAVVWKIDRLPDKNS|tlgnqgfav*

LH00995:48:23YTGFLT4:3:1232:40706:12042,LH00995:48:23YTGFLT4:8:1164:34493:9828,LH00995:48:23YTGFLT4:2:2389:21023:3564,LH00995:48:23YTGFLT4:6:1231:4543:12966,LH00995:48:23YTGFLT4:8:1364:11695:2401

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

744

low

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

duplicates(26)

TGTTTCAATTCACGAAGtTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGT

LH00995:48:23YTGFLT4:1:1226:26945:20519,LH00995:48:23YTGFLT4:1:1439:12585:20897,LH00995:48:23YTGFLT4:1:2123:30383:6549,LH00995:48:23YTGFLT4:1:2123:30391:6563,LH00995:48:23YTGFLT4:1:2312:49767:28772,LH00995:48:23YTGFLT4:2:2224:8823:21836,LH00995:48:23YTGFLT4:2:2379:32219:1462,LH00995:48:23YTGFLT4:2:2475:3710:29403,LH00995:48:23YTGFLT4:3:1492:18393:7334,LH00995:48:23YTGFLT4:3:2186:36564:5372,LH00995:48:23YTGFLT4:4:1150:25076:23672,LH00995:48:23YTGFLT4:4:1484:38376:25381,LH00995:48:23YTGFLT4:4:1484:38384:25395,LH00995:48:23YTGFLT4:4:2238:18766:9519,LH00995:48:23YTGFLT4:5:2101:39258:10122,LH00995:48:23YTGFLT4:5:2355:31629:24849,LH00995:48:23YTGFLT4:6:1369:25820:25886,LH00995:48:23YTGFLT4:6:2349:8354:3200,LH00995:48:23YTGFLT4:7:1423:3775:24583,LH00995:48:23YTGFLT4:7:1467:21443:23826,LH00995:48:23YTGFLT4:7:2347:27017:13163,LH00995:48:23YTGFLT4:8:1290:11946:10570,LH00995:48:23YTGFLT4:8:1492:36758:13499,LH00995:48:23YTGFLT4:1:1207:5094:1757,LH00995:48:23YTGFLT4:1:1468:32365:20155,LH00995:48:23YTGFLT4:2:2493:24599:22117,LH00995:48:23YTGFLT4:3:1126:24396:28324,LH00995:48:23YTGFLT4:3:2102:26168:21584,LH00995:48:23YTGFLT4:4:1132:14041:14564,LH00995:48:23YTGFLT4:5:2370:5684:24302,LH00995:48:23YTGFLT4:7:2465:16727:12182,LH00995:48:23YTGFLT4:7:2470:24340:23209,LH00995:48:23YTGFLT4:8:2319:2958:12406

IGH@-ext

FP236383.3

-/-

+/+

chr14:105707156

chr21:8399951

exon

intron

translocation

10352

11795

low

IGH.g@-ext

ENSG00000280441.3

IGH.t@-ext

upstream

duplicates(6),mismappers(9)

CTTCACACAGAAGACCATCGACCGCTTGGCGGGTAAACCCACCCATGTCAATGTGTCTGTTGTCATGGCGGAGGTGGACGGCACCTGCTACTGAGCCGCCCGCCTG|GCCCCGCGCCCTCTCTCTCTCTCTCTCCCCCG

LH00995:48:23YTGFLT4:1:1243:33991:14592,LH00995:48:23YTGFLT4:1:2135:50551:12476,LH00995:48:23YTGFLT4:1:2487:11509:15475,LH00995:48:23YTGFLT4:2:1345:46862:7516,LH00995:48:23YTGFLT4:3:2157:30545:9267,LH00995:48:23YTGFLT4:3:2356:42583:8567,LH00995:48:23YTGFLT4:3:2356:42599:8567,LH00995:48:23YTGFLT4:4:1116:21217:27301,LH00995:48:23YTGFLT4:4:1347:9438:26516,LH00995:48:23YTGFLT4:4:2126:15683:8945,LH00995:48:23YTGFLT4:5:1144:32551:21262,LH00995:48:23YTGFLT4:5:2205:33473:27792,LH00995:48:23YTGFLT4:5:2471:45430:27735,LH00995:48:23YTGFLT4:6:2269:8702:11173,LH00995:48:23YTGFLT4:6:2434:48966:18501,LH00995:48:23YTGFLT4:7:1150:20901:16806,LH00995:48:23YTGFLT4:7:1267:39864:26867,LH00995:48:23YTGFLT4:7:2351:31426:28310,LH00995:48:23YTGFLT4:8:1118:10651:5694,LH00995:48:23YTGFLT4:8:2189:25375:16932,LH00995:48:23YTGFLT4:8:2209:49483:15363

SLCO1B3

SLCO1B7

+/+

chr12:20901467

chr12:21015639

CDS/splice-site

exon/splice-site

deletion/read-through

235

low

out-of-frame

Kazal-type_serine_protease_inhibitor_domain(100%),Organic_Anion_Transporter_Polypeptide_(OATP)_family(100%)|

ENSG00000111700.13

ENSG00000205754.12

ENST00000381545.8

ENST00000648739.1

downstream

upstream

duplicates(9),low_entropy(1)

ATTTATCTTGTTGACTGTGAA___GATTGTTCAACCTGAATTGAAAGCACTTGCAATGGGTTTCCAGTCAATGGTTATAAGAACACTAG___GAGGAATTCTAGCTCCAATATATTTTGGGGCTCTGATTGATAAAACATGTATGAAGTGGTCCACCAACAGCTGTGGAGCACAAGGaGCTTGTAGGATATATAATTCCGTATTTTTTGG|ATCTTCTTGACACTCCTGTCATTCAGCTATGTTGCTAAAGCACTAGCTGGAATTTTTATGAAAAT

FILLTVKIVQPELKALAMGFQSMVIRTLGGILAPIYFGALIDKTCMKWSTNSCGAQGACRIYNSVFFg|ss*

LH00995:48:23YTGFLT4:1:2237:12455:19048,LH00995:48:23YTGFLT4:2:1150:50551:21976,LH00995:48:23YTGFLT4:3:1494:27341:8427,LH00995:48:23YTGFLT4:3:2170:46886:6016,LH00995:48:23YTGFLT4:3:2492:26128:24457,LH00995:48:23YTGFLT4:3:2492:26136:24443,LH00995:48:23YTGFLT4:4:1216:12504:9435,LH00995:48:23YTGFLT4:4:1462:34638:21318,LH00995:48:23YTGFLT4:4:2428:27244:5176,LH00995:48:23YTGFLT4:5:2132:41102:3844,LH00995:48:23YTGFLT4:6:2458:2950:5442,LH00995:48:23YTGFLT4:7:1189:12350:15194,LH00995:48:23YTGFLT4:7:1189:12358:15208,LH00995:48:23YTGFLT4:8:1110:48618:12826,LH00995:48:23YTGFLT4:8:1193:18377:26502

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

2862

1964

low

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000398692.8

downstream

upstream

duplicates(13)

GGAGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCT

EMSRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

LH00995:48:23YTGFLT4:2:2364:8621:13219,LH00995:48:23YTGFLT4:4:1392:18652:7950,LH00995:48:23YTGFLT4:4:1392:18660:7964,LH00995:48:23YTGFLT4:7:1264:30844:8244,LH00995:48:23YTGFLT4:1:1245:11816:9646,LH00995:48:23YTGFLT4:1:1368:21929:6030,LH00995:48:23YTGFLT4:1:2295:40285:2401,LH00995:48:23YTGFLT4:1:2449:15327:25900,LH00995:48:23YTGFLT4:3:2364:29542:7810,LH00995:48:23YTGFLT4:4:1259:29331:23532,LH00995:48:23YTGFLT4:4:1483:41790:9323,LH00995:48:23YTGFLT4:5:1292:5029:24008,LH00995:48:23YTGFLT4:6:1248:44071:22831,LH00995:48:23YTGFLT4:6:1436:48852:14017,LH00995:48:23YTGFLT4:7:1244:35755:4279,LH00995:48:23YTGFLT4:7:2125:32381:1238,LH00995:48:23YTGFLT4:8:2223:9066:19622,LH00995:48:23YTGFLT4:8:2282:44637:18039

RBM14

RBM4

+/+

chr11:66617057

chr11:66652277

CDS/splice-site

deletion/read-through

2862

low

in-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000578778.5

downstream

upstream

duplicates(1)

TTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|TAGAGACGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCTTGATCCG

FVGNVSAACTSQELRSLFERRGRVIECDVVK|vETGFHRVNQDGLDLLTS*

LH00995:48:23YTGFLT4:2:1243:31240:11313,LH00995:48:23YTGFLT4:6:2394:34185:25606

RBM14

RBM4

+/+

chr11:66617057

chr11:66643859

CDS/splice-site

deletion/read-through

2862

1501

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(3)

GGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|ACACCTGTTGCCGACCTCAGGAGCTGCTGCCAC

GNVSAACTSQELRSLFERRGRVIECDVVK|dtccrpqellp

LH00995:48:23YTGFLT4:3:1410:30359:3648,LH00995:48:23YTGFLT4:8:1193:14793:25031,LH00995:48:23YTGFLT4:8:1448:43659:4769,LH00995:48:23YTGFLT4:8:2385:28514:29515

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

2862

1415

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(2)

GTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGC

SAACTSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSR

LH00995:48:23YTGFLT4:3:2277:5061:8623,LH00995:48:23YTGFLT4:4:1339:27681:12238,LH00995:48:23YTGFLT4:6:1433:45980:12630

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

2862

1884

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(308),read_through(100)

TTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGAC

NTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

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8:23YTGFLT4:2:1107:45851:6241,LH00995:48:23YTGFLT4:2:1118:50810:10066,LH00995:48:23YTGFLT4:2:1121:46369:26895,LH00995:48:23YTGFLT4:2:1121:46377:26909,LH00995:48:23YTGFLT4:2:1128:3985:14550,LH00995:48:23YTGFLT4:2:1184:14389:21556,LH00995:48:23YTGFLT4:2:1273:17164:13583,LH00995:48:23YTGFLT4:2:1298:40018:8553,LH00995:48:23YTGFLT4:2:1333:45244:8469,LH00995:48:23YTGFLT4:2:1385:9648:27245,LH00995:48:23YTGFLT4:2:1449:12957:4167,LH00995:48:23YTGFLT4:2:1458:44597:16848,LH00995:48:23YTGFLT4:2:1463:39961:29697,LH00995:48:23YTGFLT4:2:2151:35326:15811,LH00995:48:23YTGFLT4:2:2186:29517:19650,LH00995:48:23YTGFLT4:2:2214:10926:12448,LH00995:48:23YTGFLT4:2:2244:51700:26993,LH00995:48:23YTGFLT4:2:2251:28102:14116,LH00995:48:23YTGFLT4:2:2264:2756:10038,LH00995:48:23YTGFLT4:2:2309:14195:7376,LH00995:48:23YTGFLT4:2:2367:46264:3844,LH00995:48:23YTGFLT4:2:2376:52169:19398,LH00995:48:23YTGFLT4:2:2384:33392:16329,LH00995:48:23YTGFLT4:2:2388:26556:19706,LH00995:48:23YTGFLT4:2:2449:31944:22453,LH00995:48:23YTGFLT4:2:2450:24105:7474,LH00995:48:23YTGFLT4:3:1124:12277:28520,LH00995:48:23YTGFLT4:3:1124:12294:28520,LH00995:48:23YTGFLT4:3:1124:15230:29179,LH00995:48:23YTGFLT4:3:1253:12536:19861,LH00995:48:23YTGFLT4:3:1273:18313:15629,LH00995:48:23YTGFLT4:3:1287:22916:5414,LH00995:48:23YTGFLT4:3:1386:27268:27974,LH00995:48:23YTGFLT4:3:1386:27284:27974,LH00995:48:23YTGFLT4:3:1431:24841:10682,LH00995:48:23YTGFLT4:3:1491:29404:5190,LH00995:48:23YTGFLT4:3:2159:31621:16231,LH00995:48:23YTGFLT4:3:2170:33942:25465,LH00995:48:23YTGFLT4:3:2191:27883:7824,LH00995:48:23YTGFLT4:3:2213:21678:16357,LH00995:48:23YTGFLT4:3:2214:27438:10024,LH00995:48:23YTGFLT4:3:2239:5765:22425,LH00995:48:23YTGFLT4:3:2305:6178:16834,LH00995:48:23YTGFLT4:3:2407:14316:20645,LH00995:48:23YTGFLT4:3:2480:49856:12896,LH00995:48:23YTGFLT4:4:1130:35641:24316,LH00995:48:23YTGFLT4:4:1185:48788:13093,LH00995:48:23YTGFLT4:4:1185:48804:13093,LH00995:48:23YTGFLT4:4:1198:29517:27189,LH00995:48:23YTGFLT4:4:1198:29525:27175,LH00995:48:23YTGFLT4:4:1234:24615:7824,LH00995:48:23YTGFLT4:4:1307:44985:7460,LH00995:48:23YTGFLT4:4:1365:9794:6058,LH00995:48:23YTGFLT4:4:1424:37162:29109,LH00995:48:23YTGFLT4:4:1449:49475:23027,LH00995:48:23YTGFLT4:4:1490:41288:1925,LH00995:48:23YTGFLT4:4:2117:11986:18263,LH00995:48:23YTGFLT4:4:2248:16420:1476,LH00995:48:23YTGFLT4:4:2249:17900:23658,LH00995:48:23YTGFLT4:4:2259:49532:14858,LH00995:48:23YTGFLT4:4:2329:40868:10052,LH00995:48:23YTGFLT4:4:2455:28951:10430,LH00995:48:23YTGFLT4:4:2471:4835:9547,LH00995:48:23YTGFLT4:4:2474:11218:6143,LH00995:48:23YTGFLT4:5:1105:9171:16750,LH00995:48:23YTGFLT4:5:1109:13014:22873,LH00995:48:23YTGFLT4:5:1110:11606:1182,LH00995:48:23YTGFLT4:5:1110:11614:1168,LH00995:48:23YTGFLT4:5:1110:11622:1182,LH00995:48:23YTGFLT4:5:1197:23070:4279,LH00995:48:23YTGFLT4:5:1213:48990:24905,LH00995:48:23YTGFLT4:5:1224:18418:24555,LH00995:48:23YTGFLT4:5:1229:23806:19006,LH00995:48:23YTGFLT4:5:1303:37907:24120,LH00995:48:23YTGFLT4:5:1319:37996:15587,LH00995:48:23YTGFLT4:5:1340:32745:2569,LH00995:48:23YTGFLT4:5:1340:32753:2583,LH00995:48:23YTGFLT4:5:1356:3322:21472,LH00995:48:23YTGFLT4:5:1360:11549:28408,LH00995:48:23YTGFLT4:5:1404:8176:24527,LH00995:48:23YTGFLT4:5:1456:48189:11159,LH00995:48:23YTGFLT4:5:1467:15869:14788,LH00995:48:23YTGFLT4:5:2178:33287:13345,LH00995:48:23YTGFLT4:5:2205:28975:28212,LH00995:48:23YTGFLT4:5:2233:32786:3732,LH00995:48:23YTGFLT4:5:2268:31621:9449,LH00995:48:23YTGFLT4:5:2268:46417:10584,LH00995:48:23YTGFLT4:5:2288:24752:26530,LH00995:48:23YTGFLT4:5:2315:14842:12224,LH00995:48:23YTGFLT4:5:2345:34145:7768,LH00995:48:23YTGFLT4:5:2484:13022:26278,LH00995:48:23YTGFLT4:6:1141:30561:20001,LH00995:48:23YTGFLT4:6:1154:25594:10192,LH00995:48:23YTGFLT4:6:1258:28263:15405,LH00995:48:23YTGFLT4:6:1262:37874:3662,LH00995:48:23YTGFLT4:6:1270:8103:14200,LH00995:48:23YTGFLT4:6:1275:24623:11846,LH00995:48:23YTGFLT4:6:1346:15255:5456,LH00995:48:23YTGFLT4:6:1385:24558:9996,LH00995:48:23YTGFLT4:6:1398:4560:20141,LH00995:48:23YTGFLT4:6:1413:24825:27862,LH00995:48:23YTGFLT4:6:1415:28085:17170,LH00995:48:23YTGFLT4:6:1438:40932:20225,LH00995:48:23YTGFLT4:6:1454:46272:15909,LH00995:48:23YTGFLT4:6:2141:38149:12294,LH00995:48:23YTGFLT4:6:2166:27689:15951,LH00995:48:23YTGFLT4:6:2178:21047:5848,LH00995:48:23YTGFLT4:6:2191:10530:11677,LH00995:48:23YTGFLT4:6:2228:29404:12392,LH00995:48:23YTGFLT4:6:2230:5312:11075,LH00995:48:23YTGFLT4:6:2260:46142:2597,LH00995:48:23YTGFLT4:6:2313:28951:28422,LH00995:48:23YTGFLT4:6:2423:48553:11789,LH00995:48:23YTGFLT4:6:2440:37437:3074,LH00995:48:23YTGFLT4:6:2452:13499:27665,LH00995:48:23YTGFLT4:6:2458:44395:2597,LH00995:48:23YTGFLT4:7:1181:10943:25171,LH00995:48:23YTGFLT4:7:1186:19486:16484,LH00995:48:23YTGFLT4:7:1241:19526:11089,LH00995:48:23YTGFLT4:7:1279:11946:26208,LH00995:48:23YTGFLT4:7:1294:12229:23784,LH00995:48:23YTGFLT4:7:1307:47631:2653,LH00995:48:23YTGFLT4:7:1307:47639:2639,LH00995:48:23YTGFLT4:7:1316:16031:10080,LH00995:48:23YTGFLT4:7:1316:16039:10094,LH00995:48:23YTGFLT4:7:1344:41094:24316,LH00995:48:23YTGFLT4:7:1386:9964:28352,LH00995:48:23YTGFLT4:7:1423:45835:6717,LH00995:48:23YTGFLT4:7:1458:10983:20897,LH00995:48:23YTGFLT4:7:2113:7051:18908,LH00995:48:23YTGFLT4:7:2165:50220:4083,LH00995:48:23YTGFLT4:7:2181:46749:19538,LH00995:48:23YTGFLT4:7:2184:35528:1476,LH00995:48:23YTGFLT4:7:2194:15611:12546,LH00995:48:23YTGFLT4:7:2209:11849:13205,LH00995:48:23YTGFLT4:7:2470:45268:3466,LH00995:48:23YTGFLT4:8:1108:38829:10809,LH00995:48:23YTGFLT4:8:1148:1744:25493,LH00995:48:23YTGFLT4:8:1211:9292:16624,LH00995:48:23YTGFLT4:8:1337:35374:15671,LH00995:48:23YTGFLT4:8:1341:7334:3620,LH00995:48:23YTGFLT4:8:1359:22261:17955,LH00995:48:23YTGFLT4:8:1359:22269:17941,LH00995:48:23YTGFLT4:8:1359:22285:17941,LH00995:48:23YTGFLT4:8:1371:15570:14662,LH00995:48:23YTGFLT4:8:1393:3184:14956,LH00995:48:23YTGFLT4:8:1427:41927:11888,LH00995:48:23YTGFLT4:8:1483:16962:18978,LH00995:48:23YTGFLT4:8:2218:32883:8076,LH00995:48:23YTGFLT4:8:2359:42016:4279,LH00995:48:23YTGFLT4:8:2404:3605:25662,LH00995:48:23YTGFLT4:8:2419:7585:27960,LH00995:48:23YTGFLT4:8:2421:10813:28534,LH00995:48:23YTGFLT4:8:2429:15020:15923,LH00995:48:23YTGFLT4:8:2485:4495:26502

RBM14

RBM4

+/+

chr11:66617550

chr11:66639700

exon/splice-site

5'UTR/splice-site

deletion/read-through

1884

low

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000461478.1

ENST00000396053.9

downstream

upstream

duplicates(1),read_through(2)

CCCCAAGGCCGCCCTCCTGTTtCCTCCCGATGAATGTGCTCAAGCGGAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTT

LH00995:48:23YTGFLT4:7:1217:25335:9519,LH00995:48:23YTGFLT4:8:2112:21848:15363,LH00995:48:23YTGFLT4:8:2390:18685:26755

AGAP3

HOXD11

+/+

chr7:151086814

chr2:176107588

CDS

translocation

134

low

in-frame

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

ENSG00000133612.19

ENSG00000128713.14

ENST00000397238.7

ENST00000249504.7

downstream

upstream

duplicates(12),low_entropy(1),mismatches(3)

CCGGGCCCGCCTCGGGCCCCACGGCTCCGAAGCCATGAACTTCCAGGCGGGCGGGGGGCAGAGCCCGCAGCAGCAGCAGAGCCTGGCGGCTCCGGGGGGCGGCGGCG|GCGGCGGCGGCGGCAGCGCGGGGGGCGGC

MNFQAGGGQSPQQQQSLAAPGGGG|gGGGGSAGG

LH00995:48:23YTGFLT4:5:1273:20133:16315,LH00995:48:23YTGFLT4:7:1408:17051:20897,LH00995:48:23YTGFLT4:7:2274:39549:11495,LH00995:48:23YTGFLT4:7:2326:29639:15293,LH00995:48:23YTGFLT4:8:2450:16913:28422,LH00995:48:23YTGFLT4:1:1417:21063:29081,LH00995:48:23YTGFLT4:1:2126:18936:8721,LH00995:48:23YTGFLT4:1:2262:19631:23041,LH00995:48:23YTGFLT4:2:1290:30933:1701,LH00995:48:23YTGFLT4:2:2150:26233:24134,LH00995:48:23YTGFLT4:3:2284:21727:9155,LH00995:48:23YTGFLT4:3:2401:40334:15152,LH00995:48:23YTGFLT4:5:1176:9923:24527,LH00995:48:23YTGFLT4:5:1256:42049:14676,LH00995:48:23YTGFLT4:6:1122:47590:4097,LH00995:48:23YTGFLT4:6:2348:34654:24401,LH00995:48:23YTGFLT4:6:2416:29679:23770,LH00995:48:23YTGFLT4:6:2493:7909:5008,LH00995:48:23YTGFLT4:7:2345:42769:15307,LH00995:48:23YTGFLT4:8:2172:20076:18263,LH00995:48:23YTGFLT4:8:2226:32082:26811

CRYZL2P

SEC16B

-/-

chr1:178026155

chr1:177968039

exon/splice-site

5'UTR/splice-site

deletion/read-through

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(3),mismappers(1)

AGCTGCTGCTGGAcGTGcCGAGAAGTGCAAGCTGGCGATGCAGAGGGGTGCGCAGTCCAGCGTGAACTACAGTCAGGGCAGCCTGAAGGATGCA|GAAGATAAAATAACTGCACAACTTACTCAAAACCCAGGACAAATTCAGAGAGTCAAGGATGGAACTTTGGGCTCCCCAGAGGCTGCCCCAGACACGAGGGAAGGCCACAGCACCCTCAAAGGATCCAGACCGAGGGTTTCGGAGAGATG

LH00995:48:23YTGFLT4:1:2149:32769:22957,LH00995:48:23YTGFLT4:1:2484:31030:4083,LH00995:48:23YTGFLT4:2:1332:36734:28562,LH00995:48:23YTGFLT4:2:2419:39508:15853,LH00995:48:23YTGFLT4:2:2427:23668:15601,LH00995:48:23YTGFLT4:4:1478:47825:27651,LH00995:48:23YTGFLT4:5:2358:41264:3228,LH00995:48:23YTGFLT4:8:2264:18191:13037

RBM33(11092),SHH(7403)

AC036108.2

./-

-/+

chr7:155792577

chr15:99131434

intergenic

exon

translocation

12980

low

ENSG00000261054.1

upstream

duplicates(8),mismatches(1)

GGGGGAGAGAGAGAGAGAGAGGCCA|GTGAGATGGAGAAGGCTGTGGAGTCGGTGGTTCGGGAGAGCCTGAGCAGGCAACGCAGCCCAGCGCCTGGCAGCCCAGATGAGGAAGGTGGAGCGGAG

LH00995:48:23YTGFLT4:1:1285:44629:5722,LH00995:48:23YTGFLT4:1:2350:10781:12112,LH00995:48:23YTGFLT4:2:1272:12892:25662,LH00995:48:23YTGFLT4:5:1169:40487:13457,LH00995:48:23YTGFLT4:5:1169:40495:13471,LH00995:48:23YTGFLT4:5:2158:2480:15166,LH00995:48:23YTGFLT4:6:2315:29938:6423,LH00995:48:23YTGFLT4:6:2315:29946:6409,LH00995:48:23YTGFLT4:6:2369:17803:23994,LH00995:48:23YTGFLT4:7:2249:14947:2597,LH00995:48:23YTGFLT4:7:2352:34517:10178,LH00995:48:23YTGFLT4:8:1335:41232:26965,LH00995:48:23YTGFLT4:8:2128:44921:11215

PCDHGA5

PCDHGA8

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

LH00995:48:23YTGFLT4:1:1426:40787:24597,LH00995:48:23YTGFLT4:1:1429:14009:16049,LH00995:48:23YTGFLT4:2:1144:27098:15601,LH00995:48:23YTGFLT4:3:1183:18232:16778,LH00995:48:23YTGFLT4:3:2335:37284:13989,LH00995:48:23YTGFLT4:3:2483:22447:20267,LH00995:48:23YTGFLT4:4:1447:46862:29571,LH00995:48:23YTGFLT4:5:2102:17334:16848,LH00995:48:23YTGFLT4:5:2169:28797:7530,LH00995:48:23YTGFLT4:5:2458:35221:2541,LH00995:48:23YTGFLT4:6:1442:5466:14480,LH00995:48:23YTGFLT4:6:2170:21371:2681,LH00995:48:23YTGFLT4:6:2263:34565:8609,LH00995:48:23YTGFLT4:8:1264:42324:8511,LH00995:48:23YTGFLT4:8:1264:42332:8525,LH00995:48:23YTGFLT4:8:1383:18830:28044,LH00995:48:23YTGFLT4:8:1428:20691:4783,LH00995:48:23YTGFLT4:8:2168:40123:19636

PCDHGA5

PCDHGC3

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

PCDHGA5

PCDHGC5

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

PCDHGA5

PCDHGC4

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

PCDHGA5

PCDHGB6

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

PCDHGA5

PCDHGB7

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

PCDHGA5

PCDHGA12

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

PCDHGA5

PCDHGA9

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

PCDHGA5

PCDHGA11

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

PCDHGA5

PCDHGA10

+/+

chr5:141366751

chr5:141494807

CDS

CDS/splice-site

deletion/read-through

2056

low

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(15)

CTGATCTTTCCCCAGCCCAACTACGCAGACACGCTCCTTAGTGAAGAGAGCTGTGAGAAAAGCGAGCCTCTTCTGATGTCTGATAAGGTAGATGCAAACAAAGAAGAACGGCGAGTTCAG|CAAGCCCCGCCCAACACGGACTGGCGTTTCTCTCAGGCCCAGAGACCC

LIFPQPNYADTLLSEESCEKSEPLLMSDKVDANKEERRVQ|QAPPNTDWRFSQAQR

GCNT1

HLA-F

+/+

chr9:76571801

chr6:29724137

intron

exon

translocation

201

300

low

Core-2/I-Branching_enzyme(100%)|Class_I_Histocompatibility_antigen__domains_alpha_1_and_2(49%),Immunoglobulin_C1-set_domain(100%)

ENSG00000187210.14

ENSG00000204642.14

ENST00000485513.1

downstream

upstream

duplicates(1)

CTCGGATAGCCGGTCCCCCGCCTGTCCCCGCCGGCGGG|GCTAGCTGGGCGGGGCTGACTGCGGGGACCGGCTAGGGTCTCACACCCTCCAGGGAATGAATGGCTGCGACATGGGGCCCGACGGACGCCTCCTCCGCGGGTATCACCAGCACGCGTACGAC

LH00995:48:23YTGFLT4:1:1468:4519:24274,LH00995:48:23YTGFLT4:1:2133:36823:3186,LH00995:48:23YTGFLT4:7:2329:4754:14284,LH00995:48:23YTGFLT4:8:1105:37898:28618

ZNF207

+/+

chr17:32373457

chr17:32351743

3'UTR/splice-site

CDS/splice-site

duplication/non-canonical_splicing

180

low

ENSG00000010244.19

ENST00000584416.1

ENST00000342555.10

downstream

upstream

ATAGCCCTGCCATAGGACAGGCTGAGGCTGAGTCTCAGTGTTGCCCTGTTCAGTCTGAGGCA|g|TGTCATCATTAGGCTGTCTTTGTGCCTTAACAGTATTGATCAGGTATTGTAATAGAGATTTTGATGATGAGAAGATCCTTATTCAGCA

LH00995:48:23YTGFLT4:1:1482:17730:21290,LH00995:48:23YTGFLT4:2:2317:13620:24765,LH00995:48:23YTGFLT4:3:1464:13879:6157

SLC3A2

NUP85

+/+

chr11:62871669

chr17:75231340

CDS/splice-site

translocation

364

1155

low

out-of-frame

|Nup85_Nucleoporin(43%)

ENSG00000168003.18

ENSG00000125450.11

ENST00000680729.1

ENST00000245544.9

downstream

upstream

duplicates(11)

AGAGACGGGGTCTGACTGTGTTACCCAGGCTGGTCTTCAACTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCTTCCAAGAATGCTGAGGTTACAG|CATCGCCCTGAGCAACTGGTGGTTTGTGGCCCACCTGACAGACCTGCTGGACCACTGCAAGCTCCTCCAGTCA

ETGSDCVTQAGLQLLASSDPPALASKNAEVT|asp*

LH00995:48:23YTGFLT4:4:1253:23822:9786,LH00995:48:23YTGFLT4:6:2213:26249:14802,LH00995:48:23YTGFLT4:7:1415:6914:29207,LH00995:48:23YTGFLT4:7:2256:18029:17380,LH00995:48:23YTGFLT4:8:2238:19380:7362,LH00995:48:23YTGFLT4:2:1425:39986:26937,LH00995:48:23YTGFLT4:2:2172:17463:13345,LH00995:48:23YTGFLT4:3:2172:15756:19188,LH00995:48:23YTGFLT4:5:1124:15190:28072,LH00995:48:23YTGFLT4:5:1252:39759:2275,LH00995:48:23YTGFLT4:5:2310:2375:26558,LH00995:48:23YTGFLT4:7:1101:36863:15951,LH00995:48:23YTGFLT4:7:2276:41523:20155

MYO10

PTBP3

-/-

chr5:16754828

chr9:112297916

CDS/splice-site

translocation

618

4795

low

in-frame

Myosin_X_N-terminal_SH3_domain(100%),Myosin_head_(motor_domain)(85%)|RNA_recognition_motif._(a.k.a._RRM__RBD__or_RNP_domain)(100%),RRM-like_domain(100%)

ENSG00000145555.15

ENSG00000119314.16

ENST00000513610.6

ENST00000458258.5

upstream

downstream

duplicates(5)

CTTTTTGAACATGTTTCAAGCCGCAACAACCAGGATACCTTGAAATGTGGAAGCAAACATCGGCGGCCTACAGTCAGCTCACAGTTCAAG___GACTCACTGCATTCCTTAATGGCAACGCTAAGCTCCTCTAATCCTTTCTTTGTTCGCTGTATCAAGCCAAACATGCAGAAG|CGGGGATCTGATGAGCTTCTTTCTTCTGGCATCATTAACGGACCTTTTACCATGAATAGTTCTACTCCTTCTACAG___CTAATGGGAATGACAGCAAGAAATTTAAAC

LFEHVSSRNNQDTLKCGSKHRRPTVSSQFKDSLHSLMATLSSSNPFFVRCIKPNMQK|RGSDELLSSGIINGPFTMNSSTPSTANGNDSKKFK

LH00995:48:23YTGFLT4:4:1304:7229:10220,LH00995:48:23YTGFLT4:8:2338:52040:14942,LH00995:48:23YTGFLT4:4:1219:27470:26446,LH00995:48:23YTGFLT4:4:1219:27479:26460,LH00995:48:23YTGFLT4:4:2268:35560:7334,LH00995:48:23YTGFLT4:5:1362:28708:20575,LH00995:48:23YTGFLT4:6:2343:38659:24975

RNF31

PRMT5

+/+

-/-

chr14:24148876

chr14:22923160

CDS/splice-site

inversion

2098

1143

low

in-frame

PNGase/UBA-_or_UBX-containing_domain(100%),PUB_domain(100%)|PRMT5_arginine-N-methyltransferase(3%),PRMT5_oligomerisation_domain(100%)

ENSG00000092098.17

ENSG00000100462.16

ENST00000324103.11

ENST00000397441.6

downstream

duplicates(3)

GTTGAGCTTCCCCGAAGGGCAGGAGGAGCCAGATGAGCAtCAGGTTGCTACAGTCACACTGGAAGTACTGCTGCTTCGGACAGAGCTCAGCCTGCTATTGCAG___AATACTCATCCAAGACAGCAGGCACTGGAGCAGCTGTTGGAAGACAAGGTTGAAGATGAT___ATGCTGCAGCTTTCAGAATTTGACCCCCTATTGAGAGAGATTGCTCCTGGCCCCCTtACCACACCCTCTGTCCCAG|ATGATGGTGTGAGCATCCCCGGGGAGTACACTTCCTTTCTGGCTCCCATCTCTTCCTCCAAGCTGTACAATGAGGTCCGAGCCTGTAGGGAG

LSFPEGQEEPDEHQVATVTLEVLLLRTELSLLLQNTHPRQQALEQLLEDKVEDDMLQLSEFDPLLREIAPGPLTTPSVP|dDGVSIPGEYTSFLAPISSSKLYNEVRACR

LH00995:48:23YTGFLT4:3:1278:5781:4573,LH00995:48:23YTGFLT4:4:1181:5506:17464,LH00995:48:23YTGFLT4:5:1441:37769:6843,LH00995:48:23YTGFLT4:7:1126:41596:13275,LH00995:48:23YTGFLT4:8:2388:5983:20309

CLK2

CLASRP

-/-

+/+

chr1:155265860

chr19:45069066

CDS/splice-site

translocation

311

2119

low

out-of-frame

Protein_kinase_domain(47%)|

ENSG00000176444.19

ENSG00000104859.15

ENST00000368361.9

ENST00000221455.8

upstream

duplicates(2)

CCTGCCCTACCCCATCCACCAAGTGCGCCACATGGCCTTCCAGCTGTGCCAGGCTGTCAAGT___TCCTCCATGATAACAAGCTGACACATACAGACCTCAAGCCTGAAAATATTCTGTTTGTGAATTCAGACTATGAGCTCACCTACAACCTAGAGAAG|TtAAGGCGGATAAGAAGGCGGCACAAGAAAAGATGATCCAGCAGGAGCATGAGCGGCAGGTGAAGTGGGAAAGGGAGGGCTGGG

LPYPIHQVRHMAFQLCQAVKFLHDNKLTHTDLKPENILFVNSDYELTYNLEK|lrrirrrhkkr*

LH00995:48:23YTGFLT4:6:1482:29533:3957,LH00995:48:23YTGFLT4:3:1283:14575:7670,LH00995:48:23YTGFLT4:3:2203:37826:17591,LH00995:48:23YTGFLT4:3:2203:37834:17577

SCART1

MTG1

+/+

chr10:133467353

chr10:133419480

CDS/splice-site

duplication

185

743

low

out-of-frame

Scavenger_receptor_cysteine-rich_domain(100%)|

ENSG00000214279.13

ENSG00000148824.19

ENST00000640237.1

ENST00000317502.11

downstream

upstream

duplicates(3)

ACGGAAGTGTGGTGAAGGTGGACACAGAAGCCGCAG|GTACGTGCAGCACTACGGCCTGGGCAGTGCCTGTGACAACGTAGAGCGCGTGCTGAAGAGTGTGGCTGTGAAGCTGGGGAAG

GSVVKVDTEAA|gtcsttawavpvtt*

LH00995:48:23YTGFLT4:1:1330:49540:18740,LH00995:48:23YTGFLT4:2:2439:11646:25578,LH00995:48:23YTGFLT4:2:2492:50931:28716,LH00995:48:23YTGFLT4:6:2183:38756:27189,LH00995:48:23YTGFLT4:8:2477:1898:22509

99 rows