rna_s1221_S42.arriba.fusions.filtered.tsv

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Filename: rna_s1221_S42.arriba.fusions.filtered.tsv
Full Path: s3://natera-rnd-pltf-dev-s3-gitlab-results/rnafusion/build2803284/baseline-run/63723377/arriba/rna_s1221_S42.arriba.fusions.filtered.tsv
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Workflow Run: gitlab-rnafusion-build2803284-baseline-run-63723377
Published: Jun 05, 2026 5:20 PM

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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

breakpoint_ID

vaf1

vaf2

vaf_avg

total_reads

blacklisted

aih_curated_reason

FILTER

filter_reason

FGFR3

TACC3

+/+

chr4:1806934

chr4:1739702

CDS/splice-site

duplication

140

high

in-frame

Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%)

ENSG00000068078.20

ENSG00000013810.20

ENST00000412135.7

ENST00000651472.1

downstream

upstream

duplicates(4)

TGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAG

CTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEK

SYNTHESIZER:1:REGRESSION:1:1101:153535120:153545120,SYNTHESIZER:1:REGRESSION:1:1101:160550110:160560110,SYNTHESIZER:1:REGRESSION:1:1101:164815460:164825460,SYNTHESIZER:1:REGRESSION:1:1101:178999920:179009920,SYNTHESIZER:1:REGRESSION:1:1101:187626400:187636400,SYNTHESIZER:1:REGRESSION:2:1101:112919410:112929410,SYNTHESIZER:1:REGRESSION:2:1101:150072740:150082740,SYNTHESIZER:1:REGRESSION:2:1101:163095770:163105770,SYNTHESIZER:1:REGRESSION:2:1101:188123480:188133480,SYNTHESIZER:1:REGRESSION:2:1101:199687200:199697200,SYNTHESIZER:1:REGRESSION:3:1101:113487110:113497110,SYNTHESIZER:1:REGRESSION:3:1101:151699350:151709350,SYNTHESIZER:1:REGRESSION:3:1101:158825840:158835840,SYNTHESIZER:1:REGRESSION:3:1101:163982960:163992960,SYNTHESIZER:1:REGRESSION:3:1101:194263860:194273860,SYNTHESIZER:1:REGRESSION:4:1101:129123590:129133590,SYNTHESIZER:1:REGRESSION:4:1101:142537460:142547460,SYNTHESIZER:1:REGRESSION:4:1101:169368800:169378800,SYNTHESIZER:1:REGRESSION:4:1101:169577660:169587660,SYNTHESIZER:1:REGRESSION:4:1101:189380640:189390640,SYNTHESIZER:1:REGRESSION:1:1101:110254350:110264350,SYNTHESIZER:1:REGRESSION:1:1101:144045710:144055710,SYNTHESIZER:1:REGRESSION:1:1101:165731810:165741810,SYNTHESIZER:1:REGRESSION:1:1101:170063320:170073320,SYNTHESIZER:1:REGRESSION:2:1101:118464700:118474700,SYNTHESIZER:1:REGRESSION:2:1101:124371890:124381890,SYNTHESIZER:1:REGRESSION:2:1101:139793760:139803760,SYNTHESIZER:1:REGRESSION:2:1101:142938110:142948110,SYNTHESIZER:1:REGRESSION:2:1101:145670420:145680420,SYNTHESIZER:1:REGRESSION:3:1101:127173320:127183320,SYNTHESIZER:1:REGRESSION:3:1101:171930860:171940860,SYNTHESIZER:1:REGRESSION:3:1101:197101420:197111420,SYNTHESIZER:1:REGRESSION:4:1101:120300050:120310050

chr4:1806934-chr4:1739702

0.1566265060240964

0.10256410256410256

0.1295953042940995

False

PASS

LMNA

NTRK1

+/+

chr1:156130773

chr1:156874906

CDS/splice-site

deletion

290

high

in-frame

Intermediate_filament_protein(39%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(95%)

ENSG00000160789.23

ENSG00000198400.13

ENST00000368301.6

ENST00000392302.7

downstream

upstream

duplicates(3)

GGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAG|GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAA

ARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAK|VSVAVGLAVFACLFLSTLLLVLNKCGRRN

SYNTHESIZER:1:REGRESSION:1:1101:135814020:135824020,SYNTHESIZER:1:REGRESSION:1:1101:154376590:154386590,SYNTHESIZER:1:REGRESSION:1:1101:171944360:171954360,SYNTHESIZER:1:REGRESSION:1:1101:178383360:178393360,SYNTHESIZER:1:REGRESSION:1:1101:183101920:183111920,SYNTHESIZER:1:REGRESSION:1:1101:185976960:185986960,SYNTHESIZER:1:REGRESSION:1:1101:188936360:188946360,SYNTHESIZER:1:REGRESSION:2:1101:114170330:114180330,SYNTHESIZER:1:REGRESSION:2:1101:141994820:142004820,SYNTHESIZER:1:REGRESSION:2:1101:157079590:157089590,SYNTHESIZER:1:REGRESSION:2:1101:162923440:162933440,SYNTHESIZER:1:REGRESSION:2:1101:177787000:177797000,SYNTHESIZER:1:REGRESSION:3:1101:119331150:119341150,SYNTHESIZER:1:REGRESSION:3:1101:131338300:131348300,SYNTHESIZER:1:REGRESSION:3:1101:139444180:139454180,SYNTHESIZER:1:REGRESSION:3:1101:152444590:152454590,SYNTHESIZER:1:REGRESSION:4:1101:142221230:142231230,SYNTHESIZER:1:REGRESSION:1:1101:106142050:106152050,SYNTHESIZER:1:REGRESSION:1:1101:162985760:162995760,SYNTHESIZER:1:REGRESSION:2:1101:140089430:140099430,SYNTHESIZER:1:REGRESSION:2:1101:174359880:174369880,SYNTHESIZER:1:REGRESSION:2:1101:178037280:178047280,SYNTHESIZER:1:REGRESSION:3:1101:180678360:180688360,SYNTHESIZER:1:REGRESSION:4:1101:168290960:168300960,SYNTHESIZER:1:REGRESSION:4:1101:182105480:182115480

chr1:156130773-chr1:156874906

0.04918032786885246

0.09333333333333334

0.07125683060109289

False

PASS

PAX8

PPARG

-/-

+/+

chr2:113235394

chr3:12379704

CDS/splice-site

translocation

high

in-frame

'Paired_box'_domain(100%),Paired-box_protein_2_C_terminal(21%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%)

ENSG00000125618.18

ENSG00000132170.23

ENST00000681162.1

ENST00000287820.10

upstream

duplicates(4)

CCAGTTCTAGCTCCACCCCTTCCTCTTTATCTAGCTCCGCCTTTTTGGATCTGCAGCAAGTCGGCTCCGGGGTCCCGCCCTTCAATGCCTTTCCCCATGCTGCCTCCGTGTACGGGCAGTTCACGGGCCAGGCCCTCCTCTCAG|AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCC

SSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLS|eMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDF

SYNTHESIZER:1:REGRESSION:1:1101:110557600:110567600,SYNTHESIZER:1:REGRESSION:1:1101:123685670:123695670,SYNTHESIZER:1:REGRESSION:1:1101:129145280:129155280,SYNTHESIZER:1:REGRESSION:2:1101:114157790:114167790,SYNTHESIZER:1:REGRESSION:2:1101:186829560:186839560,SYNTHESIZER:1:REGRESSION:3:1101:105790680:105800680,SYNTHESIZER:1:REGRESSION:3:1101:107887330:107897330,SYNTHESIZER:1:REGRESSION:3:1101:125391490:125401490,SYNTHESIZER:1:REGRESSION:4:1101:102689670:102699670,SYNTHESIZER:1:REGRESSION:4:1101:127808830:127818830,SYNTHESIZER:1:REGRESSION:4:1101:129188250:129198250,SYNTHESIZER:1:REGRESSION:4:1101:184155660:184165660,SYNTHESIZER:1:REGRESSION:1:1101:135873490:135883490,SYNTHESIZER:1:REGRESSION:1:1101:142667990:142677990,SYNTHESIZER:1:REGRESSION:1:1101:145413880:145423880,SYNTHESIZER:1:REGRESSION:1:1101:160896630:160906630,SYNTHESIZER:1:REGRESSION:1:1101:175591860:175601860,SYNTHESIZER:1:REGRESSION:3:1101:101222080:101232080,SYNTHESIZER:1:REGRESSION:3:1101:131073750:131083750,SYNTHESIZER:1:REGRESSION:3:1101:170907060:170917060,SYNTHESIZER:1:REGRESSION:3:1101:171041080:171051080,SYNTHESIZER:1:REGRESSION:4:1101:107114360:107124360,SYNTHESIZER:1:REGRESSION:4:1101:154504510:154514510

chr2:113235394-chr3:12379704

0.2702702702702703

0.28125

0.27576013513513514

False

PASS

ETV6

NTRK3

+/+

-/-

chr12:11869969

chr15:87940753

CDS/splice-site

translocation

167

high

in-frame

Sterile_alpha_motif_(SAM)/Pointed_domain(100%)|Protein_kinase_domain(100%)

ENSG00000139083.11

ENSG00000140538.16

ENST00000396373.9

ENST00000394480.6

downstream

duplicates(3)

CCGTGGATTTCAAACAGTCCAGGCTCTCCGAGGACGGGCTGCATAGGGAAGGGAAGCCCATCAACCTCTCTCATCGGGAAGACCTGGCTTACATGAACCACATCATGGTCTCTGTCTCCCCGCCTGAAGAGCACGCCATGCCCATTGGGAGAATAGCAG|ATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACC

VDFKQSRLSEDGLHREGKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGRIA|dVQHIKRRDIVLKRELGEGAFGKVFLAECYNLSP

SYNTHESIZER:1:REGRESSION:1:1101:108436840:108446840,SYNTHESIZER:1:REGRESSION:1:1101:117665360:117675360,SYNTHESIZER:1:REGRESSION:1:1101:143897140:143907140,SYNTHESIZER:1:REGRESSION:2:1101:109656140:109666140,SYNTHESIZER:1:REGRESSION:2:1101:170018500:170028500,SYNTHESIZER:1:REGRESSION:2:1101:177410840:177420840,SYNTHESIZER:1:REGRESSION:3:1101:112717140:112727140,SYNTHESIZER:1:REGRESSION:3:1101:115047590:115057590,SYNTHESIZER:1:REGRESSION:3:1101:122745210:122755210,SYNTHESIZER:1:REGRESSION:3:1101:142495850:142505850,SYNTHESIZER:1:REGRESSION:3:1101:163563280:163573280,SYNTHESIZER:1:REGRESSION:3:1101:167892680:167902680,SYNTHESIZER:1:REGRESSION:3:1101:176592440:176602440,SYNTHESIZER:1:REGRESSION:3:1101:193542040:193552040,SYNTHESIZER:1:REGRESSION:4:1101:107746990:107756990,SYNTHESIZER:1:REGRESSION:4:1101:180328560:180338560,SYNTHESIZER:1:REGRESSION:2:1101:114379060:114389060,SYNTHESIZER:1:REGRESSION:2:1101:187135080:187145080,SYNTHESIZER:1:REGRESSION:2:1101:194468760:194478760,SYNTHESIZER:1:REGRESSION:4:1101:125293000:125303000,SYNTHESIZER:1:REGRESSION:4:1101:142989740:142999740,SYNTHESIZER:1:REGRESSION:4:1101:199816980:199826980

chr12:11869969-chr15:87940753

0.07222222222222222

0.375

0.2236111111111111

False

PASS

EGFR

SEPTIN14

+/+

-/-

chr7:55200413

chr7:55796092

CDS/splice-site

inversion

high

in-frame

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

ENSG00000146648.19

ENSG00000154997.9

ENST00000275493.7

ENST00000388975.4

downstream

duplicates(3)

AGATCTCCTCCATCCTGGAGAAAGGAGAACGCCTCCCTCAGCCACCCATATGTACCATCGATGTCTACATGATCATGGTCAAGT___GCTGGATGATAGACGCAGATAGTCGCCCAAAGTTCCGTGAGTTGATCATCGAATTCTCCAAAATGGCCCGAGACCCCCAGCGCTACCTTGTCATTCAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCCGAAGCAC

ISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQ|LQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEA

SYNTHESIZER:1:REGRESSION:1:1101:123837080:123847080,SYNTHESIZER:1:REGRESSION:1:1101:154211320:154221320,SYNTHESIZER:1:REGRESSION:1:1101:175887920:175897920,SYNTHESIZER:1:REGRESSION:1:1101:184009660:184019660,SYNTHESIZER:1:REGRESSION:1:1101:190825340:190835340,SYNTHESIZER:1:REGRESSION:3:1101:104460550:104470550,SYNTHESIZER:1:REGRESSION:3:1101:117301920:117311920,SYNTHESIZER:1:REGRESSION:3:1101:121939230:121949230,SYNTHESIZER:1:REGRESSION:3:1101:125998540:126008540,SYNTHESIZER:1:REGRESSION:3:1101:169791040:169801040,SYNTHESIZER:1:REGRESSION:4:1101:117795060:117805060,SYNTHESIZER:1:REGRESSION:4:1101:142980110:142990110,SYNTHESIZER:1:REGRESSION:4:1101:175531440:175541440,SYNTHESIZER:1:REGRESSION:4:1101:175621460:175631460,SYNTHESIZER:1:REGRESSION:1:1101:184188320:184198320,SYNTHESIZER:1:REGRESSION:2:1101:104544800:104554800,SYNTHESIZER:1:REGRESSION:2:1101:180866040:180876040,SYNTHESIZER:1:REGRESSION:2:1101:192037840:192047840,SYNTHESIZER:1:REGRESSION:3:1101:101331620:101341620,SYNTHESIZER:1:REGRESSION:3:1101:175966020:175976020,SYNTHESIZER:1:REGRESSION:3:1101:191697200:191707200,SYNTHESIZER:1:REGRESSION:4:1101:105963210:105973210

chr7:55200413-chr7:55796092

0.3333333333333333

0.07368421052631578

0.20350877192982456

False

PASS

FGFR3

BAIAP2L1

+/+

-/-

chr4:1806934

chr7:98362432

CDS/splice-site

translocation

high

in-frame

Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|IRSp53/MIM_homology_domain(99%),Variant_SH3_domain(100%)

ENSG00000068078.20

ENSG00000006453.14

ENST00000412135.7

ENST00000005260.9

downstream

duplicates(2)

ACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|AATGTTATGGAACAGTTCAATCCTGGGCTGCGAAATTTAATAAACCTGGGGAAAAATTATGAGAAAGCTGTA

CTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|NVMEQFNPGLRNLINLGKNYEKA

SYNTHESIZER:1:REGRESSION:1:1101:102533240:102543240,SYNTHESIZER:1:REGRESSION:1:1101:133736800:133746800,SYNTHESIZER:1:REGRESSION:1:1101:162189670:162199670,SYNTHESIZER:1:REGRESSION:1:1101:165144720:165154720,SYNTHESIZER:1:REGRESSION:1:1101:165773160:165783160,SYNTHESIZER:1:REGRESSION:2:1101:157573110:157583110,SYNTHESIZER:1:REGRESSION:3:1101:104672530:104682530,SYNTHESIZER:1:REGRESSION:3:1101:114207430:114217430,SYNTHESIZER:1:REGRESSION:3:1101:125428790:125438790,SYNTHESIZER:1:REGRESSION:3:1101:154139900:154149900,SYNTHESIZER:1:REGRESSION:3:1101:156600120:156610120,SYNTHESIZER:1:REGRESSION:3:1101:166255480:166265480,SYNTHESIZER:1:REGRESSION:3:1101:177723880:177733880,SYNTHESIZER:1:REGRESSION:4:1101:121204890:121214890,SYNTHESIZER:1:REGRESSION:4:1101:167667880:167677880,SYNTHESIZER:1:REGRESSION:4:1101:176895300:176905300,SYNTHESIZER:1:REGRESSION:4:1101:181456980:181466980,SYNTHESIZER:1:REGRESSION:1:1101:159620770:159630770,SYNTHESIZER:1:REGRESSION:2:1101:153401020:153411020

chr4:1806934-chr7:98362432

0.18604651162790697

0.1

0.14302325581395348

False

PASS

AC015911.9

SLFN12L

-/-

chr17:35522279

chr17:35480195

exon

CDS/splice-site

deletion/read-through

high

|Putative_DNA-binding_domain(100%)

ENSG00000286030.2

ENSG00000205045.11

ENST00000650652.2

ENST00000628453.3

upstream

downstream

duplicates(1)

AGGAAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACATTTGTGAAAGTCAGTTTCTGAGGAATTTCATCAG|AAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAATGTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATGAAGGATTGTCAACTGAGAAAACAGCAGAATGAAAATGTCTCACGAGCTGTGTGTGCTCTGCTGAATTCTGGAGGGGGAGTGATCAAGGCTGAAGTTGAGAATAAAGGCTATAGTTATAAAAAAGATGGAATAGGGCT

SYNTHESIZER:1:REGRESSION:1:1101:149039200:149049200,SYNTHESIZER:1:REGRESSION:1:1101:181518160:181528160,SYNTHESIZER:1:REGRESSION:1:1101:187618760:187628760,SYNTHESIZER:1:REGRESSION:2:1101:112151520:112161520,SYNTHESIZER:1:REGRESSION:2:1101:180683420:180693420,SYNTHESIZER:1:REGRESSION:3:1101:177617500:177627500,SYNTHESIZER:1:REGRESSION:3:1101:183606380:183616380,SYNTHESIZER:1:REGRESSION:4:1101:101537850:101547850,SYNTHESIZER:1:REGRESSION:4:1101:137899530:137909530,SYNTHESIZER:1:REGRESSION:2:1101:101684050:101694050,SYNTHESIZER:1:REGRESSION:3:1101:144224670:144234670,SYNTHESIZER:1:REGRESSION:3:1101:147437680:147447680,SYNTHESIZER:1:REGRESSION:4:1101:169013400:169023400

chr17:35522279-chr17:35480195

0.125

0.13846153846153847

0.13173076923076923

False

PASS

NCOA4

RET

-/-

+/+

chr10:46012883

chr10:43116584

CDS/splice-site

inversion

188

high

in-frame

Nuclear_coactivator(62%)|Protein_kinase_domain(100%)

ENSG00000266412.6

ENSG00000165731.20

ENST00000581486.6

ENST00000355710.8

upstream

duplicates(1),mismatches(1)

TGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAG___AAGTCAGCATCCGGTATTGTAGCTGTCCCTTTCAGCGAATGGCTCCTTGGAAGCAAACCTGCCAGTGGTTATCAAGCTCCTTACATACCCAGCACCGACCCCCAGGACTGGCTTACCCAAAAGCAGACCTTGGAGAACAGTCAG|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGG

MAHASSANIGPFLEKRGCISMPEQKSASGIVAVPFSEWLLGSKPASGYQAPYIPSTDPQDWLTQKQTLENSQ|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRA

SYNTHESIZER:1:REGRESSION:2:1101:113709440:113719440,SYNTHESIZER:1:REGRESSION:2:1101:139941720:139951720,SYNTHESIZER:1:REGRESSION:3:1101:115141820:115151820,SYNTHESIZER:1:REGRESSION:3:1101:129575110:129585110,SYNTHESIZER:1:REGRESSION:4:1101:108469140:108479140,SYNTHESIZER:1:REGRESSION:4:1101:152609140:152619140,SYNTHESIZER:1:REGRESSION:1:1101:123748870:123758870,SYNTHESIZER:1:REGRESSION:1:1101:146132110:146142110,SYNTHESIZER:1:REGRESSION:2:1101:132675980:132685980,SYNTHESIZER:1:REGRESSION:2:1101:184004760:184014760,SYNTHESIZER:1:REGRESSION:3:1101:167336160:167346160,SYNTHESIZER:1:REGRESSION:4:1101:142941020:142951020

chr10:46012883-chr10:43116584

0.025906735751295335

0.08333333333333333

0.05462003454231433

False

PASS

SLC45A3

BRAF

-/-

chr1:205680394

chr7:140794467

5'UTR/splice-site

CDS/splice-site

translocation

184

high

|Protein_kinase_domain(100%)

ENSG00000158715.6

ENSG00000157764.14

ENST00000367145.4

ENST00000644969.2

upstream

downstream

AAAAGCCGCCGGCTGGCGCGCGTGGGGGGCAAGGAAGGGGGGGCGGAACCAGCCTGCACGCGCTGGCTCCGGGTGACAGCCGCGCGCCTCGGCCAG|GCCCCAAATTCTCACCAGTCCGTCTCCTTCAAAATCCATTCCAATTCCACAGCCCTTCCGACCAGCAGATGAAGATCATCGAAATCAATTTGGGCAACGAGACCGATCCTCATCAGCTCCCAATGTGCA

SYNTHESIZER:1:REGRESSION:2:1101:113217710:113227710,SYNTHESIZER:1:REGRESSION:4:1101:194269680:194279680,SYNTHESIZER:1:REGRESSION:1:1101:102019990:102029990,SYNTHESIZER:1:REGRESSION:1:1101:114480240:114490240,SYNTHESIZER:1:REGRESSION:1:1101:151846950:151856950,SYNTHESIZER:1:REGRESSION:1:1101:180341680:180351680,SYNTHESIZER:1:REGRESSION:2:1101:177309360:177319360,SYNTHESIZER:1:REGRESSION:2:1101:183363880:183373880

chr1:205680394-chr7:140794467

0.5

0.031578947368421054

0.2657894736842105

False

PASS

EML4

ALK

+/+

-/-

chr2:42295516

chr2:29223528

CDS/splice-site

inversion

102

high

in-frame

HELP_motif(100%),WD_domain__G-beta_repeat(25%)|Protein_kinase_domain(100%)

ENSG00000143924.19

ENSG00000171094.18

ENST00000318522.10

ENST00000389048.8

downstream

TGAAAAGCCAAAATTTGTGCAGTGTTTAGCATTCTTGGGGAATGGAGATGTTCTTACTGGAGACTCAGGTGGAGTCATGCTTATATGGAGCAAAACTACTGTAGAGCCCACACCTGGGAAAGGACCTAAAG|TGTACCGCCGGAAGCACCAGGAGCTGCAAGCCATGCAGATGGAGCTGCAGAGCCCTGAGTACAAGCTGAGCAAGCTCCGCACCTCGACCATCATGACCGACTACAACCCCAACTACTGaTTTGCTGGCAAGACCTCCTCCATCAGTGACCTGAAGGAGGTGCCGCGGAAAAACATCACCC

EKPKFVQCLAFLGNGDVLTGDSGGVMLIWSKTTVEPTPGKGPK|vYRRKHQELQAMQMELQSPEYKLSKLRTSTIMTDYNPNY*

SYNTHESIZER:1:REGRESSION:1:1101:135792610:135802610,SYNTHESIZER:1:REGRESSION:2:1101:177669960:177679960,SYNTHESIZER:1:REGRESSION:3:1101:151282770:151292770,SYNTHESIZER:1:REGRESSION:4:1101:135316850:135326850,SYNTHESIZER:1:REGRESSION:1:1101:128262090:128272090,SYNTHESIZER:1:REGRESSION:4:1101:186659800:186669800

chr2:42295516-chr2:29223528

0.019230769230769232

0.18181818181818182

0.10052447552447552

False

FAIL

total_reads_below_min(6.0<8.0)

TFG

NTRK1

+/+

chr3:100732672

chr1:156874571

CDS/splice-site

translocation

284

high

in-frame

PB1_domain(100%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%)

ENSG00000114354.15

ENSG00000198400.13

ENST00000675047.1

ENST00000392302.7

downstream

upstream

CAAGTCAGGTGAAATATCTCCGTCGAGAACTGATAGAACTTCGAAATAAAGTGAATCGTTTATTGGATAGCTTGGAACCACCTGGAGAACCAGGACCTTCCACCAATATTCCTGAAAATG___ATACTGTGGATGGTAGGGAAGAAAAGTCTGCTTCTGATTCTTCTGGAAAACAGTCTACTCAGGTTATGGCAGCAAGTATGTCTGCTTTTGATCCTTTAAAAAACCAAGATGAAATCAATAAAAATGTTATGTCAGCGTTTGGCTTAACAGATGATCAGGTTTCAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGAC

SQVKYLRRELIELRNKVNRLLDSLEPPGEPGPSTNIPENDTVDGREEKSASDSSGKQSTQVMAASMSAFDPLKNQDEINKNVMSAFGLTDDQVS|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCG

SYNTHESIZER:1:REGRESSION:1:1101:165780740:165790740,SYNTHESIZER:1:REGRESSION:1:1101:168587920:168597920,SYNTHESIZER:1:REGRESSION:1:1101:106200170:106210170,SYNTHESIZER:1:REGRESSION:1:1101:125502780:125512780,SYNTHESIZER:1:REGRESSION:2:1101:185402840:185412840,SYNTHESIZER:1:REGRESSION:3:1101:177292020:177302020

chr3:100732672-chr1:156874571

0.013888888888888888

0.09523809523809523

0.054563492063492064

False

FAIL

total_reads_below_min(6.0<8.0)

SLC34A2

ROS1

+/+

-/-

chr4:25664330

chr6:117324415

CDS/splice-site

translocation

high

in-frame

Na+/Pi-cotransporter(8%)|Protein_kinase_domain(100%)

ENSG00000157765.13

ENSG00000047936.11

ENST00000645788.1

ENST00000368507.8

downstream

CTCCACGGCTACACTGATAGATGAGCCCACTGAGGTGGATGACCCCTGGAACCTACCCACTCTTCAGGACTCGGGGATCAAGTGGTCAG___AGAGAGACACCAAAGGGAAGATTCTCTGTTTCTTCCAAGGGATTGGGAGATTGATTTTACTTCTCGGATTTCTCTACTTTTTCGTGTGCTCCCTGGATATTCTTAGTAGCGCCTTCCAGCTGGTTGGAG|ATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG___TCTGGCATAGAAGATTAAAGAATCAAAAAAGTGCCAAGGAAGGGGTGACAGTGCTTATAAACGAAGACAAAGAGTTGGCTGAGCTGCGAGGTCTGGCAGCCGGAGTAGGCCTGGCTAATGtCTGCTATGCAATACA___TACTCTTCCAACCCAAGAGGAG

STATLIDEPTEVDDPWNLPTLQDSGIKWSERDTKGKILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVG|dDFWIPETSFILTIIVGIFLVVTIPLTFVWHRRLKNQKSAKEGVTVLINEDKELAELRGLAAGVGLANvCYAIHTLPTQE

SYNTHESIZER:1:REGRESSION:4:1101:167453070:167463070,SYNTHESIZER:1:REGRESSION:1:1101:130977870:130987870,SYNTHESIZER:1:REGRESSION:2:1101:141828610:141838610,SYNTHESIZER:1:REGRESSION:3:1101:115479950:115489950,SYNTHESIZER:1:REGRESSION:4:1101:136724050:136734050,SYNTHESIZER:1:REGRESSION:3:1101:105933070:105943070

chr4:25664330-chr6:117324415

0.23076923076923078

0.2727272727272727

0.2517482517482518

False

FAIL

total_reads_below_min(6.0<8.0)

CCDC6

RET

-/-

+/+

chr10:59906122

chr10:43116584

CDS/splice-site

inversion

106

high

in-frame

Uncharacterized_conserved_protein_H4_(DUF2046)(17%)|Protein_kinase_domain(100%)

ENSG00000108091.11

ENSG00000165731.20

ENST00000263102.7

ENST00000355710.8

upstream

duplicates(1),mismatches(1)

CACCAACCGCCTGGCCTCGCTGCAGCAAGAGAACAAGGTGCTGAAGATAGAGCTGGAGACCTACAAACTGAAGTGCAAGGCACTGCAGGAGGAGAACCGCGACCTGCGCAAAGCCAGCGTGACCATC|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGA

TNRLASLQQENKVLKIELETYKLKCKALQEENRDLRKASVTI|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKG

SYNTHESIZER:1:REGRESSION:2:1101:128771480:128781480,SYNTHESIZER:1:REGRESSION:4:1101:159869100:159879100,SYNTHESIZER:1:REGRESSION:4:1101:163503910:163513910,SYNTHESIZER:1:REGRESSION:4:1101:195935080:195945080,SYNTHESIZER:1:REGRESSION:1:1101:109089400:109099400,SYNTHESIZER:1:REGRESSION:1:1101:175824400:175834400,SYNTHESIZER:1:REGRESSION:3:1101:127963900:127973900,SYNTHESIZER:1:REGRESSION:3:1101:182731840:182741840

chr10:59906122-chr10:43116584

0.018518518518518517

0.06779661016949153

0.04315756434400502

False

FAIL

total_reads_below_min(6.0<8.0)

TPM3

NTRK1

-/-

+/+

chr1:154170400

chr1:156874571

CDS/splice-site

inversion

676

high

in-frame

Tropomyosin(78%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%)

ENSG00000143549.21

ENSG00000198400.13

ENST00000271850.11

ENST00000392302.7

upstream

mismatches(1)

GGATGAGCAGATTAGACTGATGGACCAGAACCTGAAGTGTCTGAGTGCTGCcGAAGAAAAG___TACTCTCAAAAAGAAGATAAATATGAGGAAGAAATCAAGATTCTTACTGATAAACTCAAGGAG___GCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACCG

DEQIRLMDQNLKCLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGIN

SYNTHESIZER:1:REGRESSION:3:1101:155802760:155812760,SYNTHESIZER:1:REGRESSION:3:1101:175273260:175283260,SYNTHESIZER:1:REGRESSION:1:1101:170819600:170829600,SYNTHESIZER:1:REGRESSION:2:1101:178201220:178211220,SYNTHESIZER:1:REGRESSION:3:1101:100245160:100255160,SYNTHESIZER:1:REGRESSION:4:1101:121317540:121327540,SYNTHESIZER:1:REGRESSION:2:1101:188988440:188998440

chr1:154170400-chr1:156874571

0.0036845983787767134

0.15555555555555556

0.07962007696716614

False

FAIL

total_reads_below_min(6.0<8.0)

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

140

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(18),mismappers(3)

AGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCACAACTGCAGG

GSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQ

SYNTHESIZER:1:REGRESSION:1:1101:105445720:105455720,SYNTHESIZER:1:REGRESSION:1:1101:106362530:106372530,SYNTHESIZER:1:REGRESSION:1:1101:125537470:125547470,SYNTHESIZER:1:REGRESSION:1:1101:127220540:127230540,SYNTHESIZER:1:REGRESSION:1:1101:157595730:157605730,SYNTHESIZER:1:REGRESSION:1:1101:185505680:185515680,SYNTHESIZER:1:REGRESSION:1:1101:191942800:191952800,SYNTHESIZER:1:REGRESSION:2:1101:116068070:116078070,SYNTHESIZER:1:REGRESSION:2:1101:119248530:119258530,SYNTHESIZER:1:REGRESSION:2:1101:167850600:167860600,SYNTHESIZER:1:REGRESSION:2:1101:168637080:168647080,SYNTHESIZER:1:REGRESSION:2:1101:173692320:173702320,SYNTHESIZER:1:REGRESSION:2:1101:192669920:192679920,SYNTHESIZER:1:REGRESSION:3:1101:101209400:101219400,SYNTHESIZER:1:REGRESSION:3:1101:157031320:157041320,SYNTHESIZER:1:REGRESSION:3:1101:174353840:174363840,SYNTHESIZER:1:REGRESSION:3:1101:177220200:177230200,SYNTHESIZER:1:REGRESSION:4:1101:108469720:108479720,SYNTHESIZER:1:REGRESSION:4:1101:130684250:130694250,SYNTHESIZER:1:REGRESSION:4:1101:132802670:132812670,SYNTHESIZER:1:REGRESSION:4:1101:139739390:139749390,SYNTHESIZER:1:REGRESSION:4:1101:170044280:170054280,SYNTHESIZER:1:REGRESSION:4:1101:170357280:170367280,SYNTHESIZER:1:REGRESSION:4:1101:173083760:173093760,SYNTHESIZER:1:REGRESSION:4:1101:174281320:174291320,SYNTHESIZER:1:REGRESSION:4:1101:183138520:183148520,SYNTHESIZER:1:REGRESSION:4:1101:195647680:195657680,SYNTHESIZER:1:REGRESSION:4:1101:197404840:197414840,SYNTHESIZER:1:REGRESSION:1:1101:107644630:107654630,SYNTHESIZER:1:REGRESSION:1:1101:108262870:108272870,SYNTHESIZER:1:REGRESSION:1:1101:109230560:109240560,SYNTHESIZER:1:REGRESSION:1:1101:111791600:111801600,SYNTHESIZER:1:REGRESSION:1:1101:119834890:119844890,SYNTHESIZER:1:REGRESSION:1:1101:139120910:139130910,SYNTHESIZER:1:REGRESSION:1:1101:142921410:142931410,SYNTHESIZER:1:REGRESSION:1:1101:145949590:145959590,SYNTHESIZER:1:REGRESSION:1:1101:166708930:166718930,SYNTHESIZER:1:REGRESSION:1:1101:167333540:167343540,SYNTHESIZER:1:REGRESSION:1:1101:171716040:171726040,SYNTHESIZER:1:REGRESSION:1:1101:175397320:175407320,SYNTHESIZER:1:REGRESSION:1:1101:198949820:198959820,SYNTHESIZER:1:REGRESSION:2:1101:114013270:114023270,SYNTHESIZER:1:REGRESSION:2:1101:118917690:118927690,SYNTHESIZER:1:REGRESSION:2:1101:121653740:121663740,SYNTHESIZER:1:REGRESSION:2:1101:122059000:122069000,SYNTHESIZER:1:REGRESSION:2:1101:122293190:122303190,SYNTHESIZER:1:REGRESSION:2:1101:122350510:122360510,SYNTHESIZER:1:REGRESSION:2:1101:147834940:147844940,SYNTHESIZER:1:REGRESSION:2:1101:149349990:149359990,SYNTHESIZER:1:REGRESSION:2:1101:154779030:154789030,SYNTHESIZER:1:REGRESSION:2:1101:157362630:157372630,SYNTHESIZER:1:REGRESSION:2:1101:163551380:163561380,SYNTHESIZER:1:REGRESSION:2:1101:164567960:164577960,SYNTHESIZER:1:REGRESSION:2:1101:164656320:164666320,SYNTHESIZER:1:REGRESSION:2:1101:170068880:170078880,SYNTHESIZER:1:REGRESSION:2:1101:170775720:170785720,SYNTHESIZER:1:REGRESSION:2:1101:172624040:172634040,SYNTHESIZER:1:REGRESSION:2:1101:177801520:177811520,SYNTHESIZER:1:REGRESSION:2:1101:179508860:179518860,SYNTHESIZER:1:REGRESSION:2:1101:181866760:181876760,SYNTHESIZER:1:REGRESSION:2:1101:190550360:190560360,SYNTHESIZER:1:REGRESSION:2:1101:191629320:191639320,SYNTHESIZER:1:REGRESSION:2:1101:195436120:195446120,SYNTHESIZER:1:REGRESSION:3:1101:111656930:111666930,SYNTHESIZER:1:REGRESSION:3:1101:117297590:117307590,SYNTHESIZER:1:REGRESSION:3:1101:129022200:129032200,SYNTHESIZER:1:REGRESSION:3:1101:129056400:129066400,SYNTHESIZER:1:REGRESSION:3:1101:137538680:137548680,SYNTHESIZER:1:REGRESSION:3:1101:146366250:146376250,SYNTHESIZER:1:REGRESSION:3:1101:152968590:152978590,SYNTHESIZER:1:REGRESSION:3:1101:163973920:163983920,SYNTHESIZER:1:REGRESSION:3:1101:176636800:176646800,SYNTHESIZER:1:REGRESSION:3:1101:177154880:177164880,SYNTHESIZER:1:REGRESSION:3:1101:185351960:185361960,SYNTHESIZER:1:REGRESSION:3:1101:187516920:187526920,SYNTHESIZER:1:REGRESSION:3:1101:191137600:191147600,SYNTHESIZER:1:REGRESSION:3:1101:195222900:195232900,SYNTHESIZER:1:REGRESSION:3:1101:195861240:195871240,SYNTHESIZER:1:REGRESSION:4:1101:103869670:103879670,SYNTHESIZER:1:REGRESSION:4:1101:105035070:105045070,SYNTHESIZER:1:REGRESSION:4:1101:106459260:106469260,SYNTHESIZER:1:REGRESSION:4:1101:115272560:115282560,SYNTHESIZER:1:REGRESSION:4:1101:121678600:121688600,SYNTHESIZER:1:REGRESSION:4:1101:124636450:124646450,SYNTHESIZER:1:REGRESSION:4:1101:129444890:129454890,SYNTHESIZER:1:REGRESSION:4:1101:143353870:143363870,SYNTHESIZER:1:REGRESSION:4:1101:145435230:145445230,SYNTHESIZER:1:REGRESSION:4:1101:145830570:145840570,SYNTHESIZER:1:REGRESSION:4:1101:150513300:150523300,SYNTHESIZER:1:REGRESSION:4:1101:154490280:154500280,SYNTHESIZER:1:REGRESSION:4:1101:158881780:158891780,SYNTHESIZER:1:REGRESSION:4:1101:161767560:161777560,SYNTHESIZER:1:REGRESSION:4:1101:170877680:170887680,SYNTHESIZER:1:REGRESSION:4:1101:171195840:171205840,SYNTHESIZER:1:REGRESSION:4:1101:174259640:174269640,SYNTHESIZER:1:REGRESSION:4:1101:175427840:175437840,SYNTHESIZER:1:REGRESSION:4:1101:181343860:181353860,SYNTHESIZER:1:REGRESSION:4:1101:190464500:190474500,SYNTHESIZER:1:REGRESSION:4:1101:196519680:196529680

chr14:23079590-chr14:23079595

0.20588235294117646

0.2893401015228426

0.24761122723200954

True

aih_curated_blacklist

score(3)

FAIL

confidence_below_min(medium<high);aih_curated_blacklist

KIF5B

RET

-/-

+/+

chr10:32017143

chr10:43114480

CDS/splice-site

inversion

147

medium

in-frame

Kinesin_motor_domain(100%)|Protein_kinase_domain(100%)

ENSG00000170759.11

ENSG00000165731.20

ENST00000302418.5

ENST00000355710.8

upstream

duplicates(4)

CTCGTGATCGCAAACGCTATCAGCAAGAAGTAGATCGCATAAAGGAAGCAGTCAGGTCAAAGAATATGGCCAGAAGAGGGCATTCTGCACAGATTG|ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACC

RDRKRYQQEVDRIKEAVRSKNMARRGHSAQI|dPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCYHKFAHKP

SYNTHESIZER:1:REGRESSION:1:1101:103070150:103080150,SYNTHESIZER:1:REGRESSION:1:1101:107479970:107489970,SYNTHESIZER:1:REGRESSION:1:1101:176792320:176802320,SYNTHESIZER:1:REGRESSION:1:1101:185165200:185175200,SYNTHESIZER:1:REGRESSION:2:1101:101734440:101744440,SYNTHESIZER:1:REGRESSION:2:1101:103771410:103781410,SYNTHESIZER:1:REGRESSION:2:1101:125250910:125260910,SYNTHESIZER:1:REGRESSION:2:1101:150086940:150096940,SYNTHESIZER:1:REGRESSION:2:1101:170177900:170187900,SYNTHESIZER:1:REGRESSION:2:1101:177425480:177435480,SYNTHESIZER:1:REGRESSION:3:1101:105829190:105839190,SYNTHESIZER:1:REGRESSION:3:1101:113956240:113966240,SYNTHESIZER:1:REGRESSION:3:1101:119669980:119679980,SYNTHESIZER:1:REGRESSION:3:1101:131014380:131024380,SYNTHESIZER:1:REGRESSION:3:1101:162137330:162147330,SYNTHESIZER:1:REGRESSION:3:1101:185301520:185311520,SYNTHESIZER:1:REGRESSION:4:1101:135013380:135023380,SYNTHESIZER:1:REGRESSION:4:1101:160998930:161008930,SYNTHESIZER:1:REGRESSION:4:1101:162137130:162147130

chr10:32017143-chr10:43114480

0.0

0.2542372881355932

0.1271186440677966

False

FAIL

confidence_below_min(medium<high)

CD74

ROS1

-/-

chr5:150404680

chr6:117324415

CDS/splice-site

translocation

3405

medium

in-frame

CLIP__MHC2_interacting(100%),Class_II_MHC-associated_invariant_chain_trimerisation_domain(100%)|Protein_kinase_domain(100%)

ENSG00000019582.16

ENSG00000047936.11

ENST00000009530.12

ENST00000368507.8

upstream

downstream

duplicates(1)

GGGAGCTTCCCGGAGAACCTGAGACACCTTAAGAACACCATGGAGACCATAGACTGGAAG___GTCTTTGAGAGCTGGATGCACCATTGGCTCCTGTTTGAAATGAGCAGGCACTCCTTGGAGCAAAAGCCCACTGACGCTCCACCGAAAG|ATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG___TCTGGCATAGAAGATTAAAGAATCAAAAAAGTGCCAAGGAAGGGGTGACAGTGCTTATAAACGAA

GSFPENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPK|dDFWIPETSFILTIIVGIFLVVTIPLTFVWHRRLKNQKSAKEGVTVLIN

SYNTHESIZER:1:REGRESSION:1:1101:165849850:165859850,SYNTHESIZER:1:REGRESSION:2:1101:141458070:141468070,SYNTHESIZER:1:REGRESSION:2:1101:155946520:155956520,SYNTHESIZER:1:REGRESSION:2:1101:163839600:163849600,SYNTHESIZER:1:REGRESSION:2:1101:177099000:177109000,SYNTHESIZER:1:REGRESSION:4:1101:147556630:147566630,SYNTHESIZER:1:REGRESSION:4:1101:165006360:165016360,SYNTHESIZER:1:REGRESSION:4:1101:185288800:185298800,SYNTHESIZER:1:REGRESSION:1:1101:123501700:123511700,SYNTHESIZER:1:REGRESSION:2:1101:163939440:163949440,SYNTHESIZER:1:REGRESSION:3:1101:168414720:168424720,SYNTHESIZER:1:REGRESSION:4:1101:167689610:167699610,SYNTHESIZER:1:REGRESSION:2:1101:159296320:159306320,SYNTHESIZER:1:REGRESSION:4:1101:139409330:139419330

chr5:150404680-chr6:117324415

0.0024901127874615496

0.2727272727272727

0.13760869275736712

False

FAIL

confidence_below_min(medium<high)

ZNF814

-/+

chr19:57874584

chr19:57874502

CDS

duplication/ITD

medium

ENSG00000204514.10

downstream

upstream

duplicates(14)

ATGTTTTTTTTCAGTGTGAACTCTCTGATGATTACTGAAGCTAACATATTTGCTAAAGGATTTCCCACATTCTCCACATTCAT|ATGTTTTTTTTCAGTGTGAACTCTCTGATGATTACTGAAGCTAACATATTTGCTAAAGGATTTCCCACATTCTCCACATTCATGTTTTTTTTCAGTGTGAACTCTCTGATGATTACTCAAGCTAGCATATTTGCTAAAGGACTTCCC

SYNTHESIZER:1:REGRESSION:1:1101:118571770:118581770,SYNTHESIZER:1:REGRESSION:1:1101:118571770:118581770,SYNTHESIZER:1:REGRESSION:3:1101:111603970:111613970,SYNTHESIZER:1:REGRESSION:3:1101:111603970:111613970,SYNTHESIZER:1:REGRESSION:4:1101:111862970:111872970,SYNTHESIZER:1:REGRESSION:4:1101:173906820:173916820,SYNTHESIZER:1:REGRESSION:4:1101:173906820:173916820,SYNTHESIZER:1:REGRESSION:1:1101:145238390:145248390,SYNTHESIZER:1:REGRESSION:1:1101:179968480:179978480,SYNTHESIZER:1:REGRESSION:4:1101:111862970:111872970,SYNTHESIZER:1:REGRESSION:4:1101:175836680:175846680,SYNTHESIZER:1:REGRESSION:4:1101:175836680:175846680,SYNTHESIZER:1:REGRESSION:4:1101:175836680:175846680,SYNTHESIZER:1:REGRESSION:1:1101:118571770:118581770,SYNTHESIZER:1:REGRESSION:3:1101:111603970:111613970,SYNTHESIZER:1:REGRESSION:4:1101:173906820:173916820,SYNTHESIZER:1:REGRESSION:1:1101:100925280:100935280,SYNTHESIZER:1:REGRESSION:1:1101:157774900:157784900,SYNTHESIZER:1:REGRESSION:1:1101:167291740:167301740,SYNTHESIZER:1:REGRESSION:1:1101:179968480:179978480,SYNTHESIZER:1:REGRESSION:1:1101:157774900:157784900,SYNTHESIZER:1:REGRESSION:1:1101:167291740:167301740,SYNTHESIZER:1:REGRESSION:1:1101:179968480:179978480,SYNTHESIZER:1:REGRESSION:1:1101:179968480:179978480

chr19:57874584-chr19:57874502

0.06666666666666667

0.12244897959183673

0.0945578231292517

False

FAIL

confidence_below_min(medium<high)

NCOR2

-/-

chr12:124402513

chr12:124402515

CDS

duplication/ITD

497

405

low

in-frame

G-protein_pathway_suppressor_2-interacting_domain(100%)|Myb-like_DNA-binding_domain(100%)

ENSG00000196498.13

ENST00000458234.5

upstream

downstream

duplicates(16),low_entropy(52),mismappers(1)

TCTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAG___CAGCAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|AGCCCATGCCCCGCAGCAGCCAGGAGGAGAAAGATGAGAAGGAGAAGGAAAAGGAGGCGGAGAAGGAGGA

YYYLTKKNENYKSLVRRSYRRRGKSQQQQQQQQQQQQQQQQQ|qPMPRSSQEEKDEKEKEKEAEKE

SYNTHESIZER:1:REGRESSION:1:1101:102278550:102288550,SYNTHESIZER:1:REGRESSION:1:1101:103087880:103097880,SYNTHESIZER:1:REGRESSION:1:1101:103784990:103794990,SYNTHESIZER:1:REGRESSION:1:1101:106363680:106373680,SYNTHESIZER:1:REGRESSION:1:1101:110209060:110219060,SYNTHESIZER:1:REGRESSION:1:1101:111728240:111738240,SYNTHESIZER:1:REGRESSION:1:1101:114420360:114430360,SYNTHESIZER:1:REGRESSION:1:1101:133988000:133998000,SYNTHESIZER:1:REGRESSION:1:1101:139600830:139610830,SYNTHESIZER:1:REGRESSION:1:1101:142314270:142324270,SYNTHESIZER:1:REGRESSION:1:1101:144645310:144655310,SYNTHESIZER:1:REGRESSION:1:1101:146911280:146921280,SYNTHESIZER:1:REGRESSION:1:1101:148112980:148122980,SYNTHESIZER:1:REGRESSION:1:1101:150990180:151000180,SYNTHESIZER:1:REGRESSION:1:1101:153772760:153782760,SYNTHESIZER:1:REGRESSION:1:1101:154339040:154349040,SYNTHESIZER:1:REGRESSION:1:1101:158244560:158254560,SYNTHESIZER:1:REGRESSION:1:1101:158691540:158701540,SYNTHESIZER:1:REGRESSION:1:1101:160655900:160665900,SYNTHESIZER:1:REGRESSION:1:1101:162290710:162300710,SYNTHESIZER:1:REGRESSION:1:1101:170743640:170753640,SYNTHESIZER:1:REGRESSION:1:1101:175166320:175176320,SYNTHESIZER:1:REGRESSION:1:1101:176099600:176109600,SYNTHESIZER:1:REGRESSION:1:1101:184219480:184229480,SYNTHESIZER:1:REGRESSION:1:1101:185421920:185431920,SYNTHESIZER:1:REGRESSION:2:1101:110415010:110425010,SYNTHESIZER:1:REGRESSION:2:1101:111191770:111201770,SYNTHESIZER:1:REGRESSION:2:1101:112356140:112366140,SYNTHESIZER:1:REGRESSION:2:1101:115633850:115643850,SYNTHESIZER:1:REGRESSION:2:1101:115920500:115930500,SYNTHESIZER:1:REGRESSION:2:1101:117257090:117267090,SYNTHESIZER:1:REGRESSION:2:1101:119060660:119070660,SYNTHESIZER:1:REGRESSION:2:1101:127583400:127593400,SYNTHESIZER:1:REGRESSION:2:1101:128659390:128669390,SYNTHESIZER:1:REGRESSION:2:1101:134085680:134095680,SYNTHESIZER:1:REGRESSION:2:1101:140189350:140199350,SYNTHESIZER:1:REGRESSION:2:1101:143297350:143307350,SYNTHESIZER:1:REGRESSION:2:1101:146465960:146475960,SYNTHESIZER:1:REGRESSION:2:1101:149254090:149264090,SYNTHESIZER:1:REGRESSION:2:1101:160535420:160545420,SYNTHESIZER:1:REGRESSION:2:1101:161393630:161403630,SYNTHESIZER:1:REGRESSION:2:1101:164289190:164299190,SYNTHESIZER:1:REGRESSION:2:1101:173687160:173697160,SYNTHESIZER:1:REGRESSION:2:1101:175327640:175337640,SYNTHESIZER:1:REGRESSION:2:1101:175493000:175503000,SYNTHESIZER:1:REGRESSION:2:1101:175847140:175857140,SYNTHESIZER:1:REGRESSION:2:1101:177208600:177218600,SYNTHESIZER:1:REGRESSION:2:1101:184776260:184786260,SYNTHESIZER:1:REGRESSION:2:1101:188780140:188790140,SYNTHESIZER:1:REGRESSION:2:1101:193532700:193542700,SYNTHESIZER:1:REGRESSION:2:1101:196740780:196750780,SYNTHESIZER:1:REGRESSION:2:1101:198029580:198039580,SYNTHESIZER:1:REGRESSION:3:1101:108399000:108409000,SYNTHESIZER:1:REGRESSION:3:1101:108598980:108608980,SYNTHESIZER:1:REGRESSION:3:1101:109664690:109674690,SYNTHESIZER:1:REGRESSION:3:1101:122138690:122148690,SYNTHESIZER:1:REGRESSION:3:1101:127503490:127513490,SYNTHESIZER:1:REGRESSION:3:1101:128512150:128522150,SYNTHESIZER:1:REGRESSION:3:1101:130731240:130741240,SYNTHESIZER:1:REGRESSION:3:1101:132262610:132272610,SYNTHESIZER:1:REGRESSION:3:1101:132364420:132374420,SYNTHESIZER:1:REGRESSION:3:1101:143369950:143379950,SYNTHESIZER:1:REGRESSION:3:1101:146607470:146617470,SYNTHESIZER:1:REGRESSION:3:1101:148396350:148406350,SYNTHESIZER:1:REGRESSION:3:1101:153242500:153252500,SYNTHESIZER:1:REGRESSION:3:1101:154458340:154468340,SYNTHESIZER:1:REGRESSION:3:1101:158251450:158261450,SYNTHESIZER:1:REGRESSION:3:1101:161118690:161128690,SYNTHESIZER:1:REGRESSION:3:1101:162670200:162680200,SYNTHESIZER:1:REGRESSION:3:1101:165293910:165303910,SYNTHESIZER:1:REGRESSION:3:1101:167244030:167254030,SYNTHESIZER:1:REGRESSION:3:1101:169107240:169117240,SYNTHESIZER:1:REGRESSION:3:1101:170760020:170770020,SYNTHESIZER:1:REGRESSION:3:1101:175442240:175452240,SYNTHESIZER:1:REGRESSION:3:1101:175500360:175510360,SYNTHESIZER:1:REGRESSION:3:1101:176441820:176451820,SYNTHESIZER:1:REGRESSION:3:1101:180129200:180139200,SYNTHESIZER:1:REGRESSION:3:1101:181980680:181990680,SYNTHESIZER:1:REGRESSION:3:1101:183794240:183804240,SYNTHESIZER:1:REGRESSION:3:1101:184391420:184401420,SYNTHESIZER:1:REGRESSION:3:1101:191952320:191962320,SYNTHESIZER:1:REGRESSION:3:1101:193445360:193455360,SYNTHESIZER:1:REGRESSION:3:1101:197166420:197176420,SYNTHESIZER:1:REGRESSION:3:1101:199761720:199771720,SYNTHESIZER:1:REGRESSION:4:1101:102100170:102110170,SYNTHESIZER:1:REGRESSION:4:1101:103370170:103380170,SYNTHESIZER:1:REGRESSION:4:1101:105386010:105396010,SYNTHESIZER:1:REGRESSION:4:1101:115630300:115640300,SYNTHESIZER:1:REGRESSION:4:1101:120034580:120044580,SYNTHESIZER:1:REGRESSION:4:1101:120280020:120290020,SYNTHESIZER:1:REGRESSION:4:1101:121045830:121055830,SYNTHESIZER:1:REGRESSION:4:1101:126377230:126387230,SYNTHESIZER:1:REGRESSION:4:1101:128178850:128188850,SYNTHESIZER:1:REGRESSION:4:1101:133439710:133449710,SYNTHESIZER:1:REGRESSION:4:1101:144516110:144526110,SYNTHESIZER:1:REGRESSION:4:1101:147101580:147111580,SYNTHESIZER:1:REGRESSION:4:1101:148012120:148022120,SYNTHESIZER:1:REGRESSION:4:1101:148386590:148396590,SYNTHESIZER:1:REGRESSION:4:1101:148545510:148555510,SYNTHESIZER:1:REGRESSION:4:1101:148811660:148821660,SYNTHESIZER:1:REGRESSION:4:1101:157665940:157675940,SYNTHESIZER:1:REGRESSION:4:1101:157814590:157824590,SYNTHESIZER:1:REGRESSION:4:1101:158843910:158853910,SYNTHESIZER:1:REGRESSION:4:1101:161290090:161300090,SYNTHESIZER:1:REGRESSION:4:1101:165145950:165155950,SYNTHESIZER:1:REGRESSION:4:1101:165858630:165868630,SYNTHESIZER:1:REGRESSION:4:1101:166472950:166482950,SYNTHESIZER:1:REGRESSION:4:1101:166491170:166501170,SYNTHESIZER:1:REGRESSION:4:1101:169956380:169966380,SYNTHESIZER:1:REGRESSION:4:1101:173262880:173272880,SYNTHESIZER:1:REGRESSION:4:1101:185496600:185506600,SYNTHESIZER:1:REGRESSION:4:1101:190599520:190609520,SYNTHESIZER:1:REGRESSION:4:1101:190686720:190696720,SYNTHESIZER:1:REGRESSION:4:1101:191099560:191109560,SYNTHESIZER:1:REGRESSION:4:1101:194983200:194993200,SYNTHESIZER:1:REGRESSION:4:1101:195744120:195754120,SYNTHESIZER:1:REGRESSION:4:1101:199977040:199987040,SYNTHESIZER:1:REGRESSION:1:1101:170193660:170203660

chr12:124402513-chr12:124402515

0.08974358974358974

0.0

0.04487179487179487

False

FAIL

confidence_below_min(low<high)

BAZ1B

-/-

chr7:73477031

chr7:73477090

CDS

duplication/ITD

144

175

low

in-frame

ATP-utilising_chromatin_assembly_and_remodelling_N-terminal(100%),WSTF__HB1__Itc1p__MBD9_motif_1(100%)|Bromodomain(100%),PHD-finger(100%),Williams-Beuren_syndrome_DDT_(WSD)__D-TOX_E_motif(100%)

ENSG00000009954.11

ENST00000339594.9

upstream

downstream

duplicates(4),low_entropy(1)

CTAGAAAAGCTGGAGACCTCTGAATTTTTTGAGCTGACGTCAGAGGAGAAGCTACAGATCTTGACAGCACTGTGCCACCGGATCCTCATGACATACTCAGTGCAAGACCACATGGAGACCAGACAGCAGATGTCTGCAGAGTTGTGGAAGGAACGGCTTGCTGTGTTGAAGGAAGAAAATGATAAGAAGAGAGCAGAGAAACAGAAACGGAAAGAAATGGAAGCCAAAAATAAAGAAAATGatAA|g|AAGAGAGCAGAGAAACAGAAACGGAAAGAAATGGAAGCCAAAAATAAAGAAAATGatAAg

LEKLETSEFFELTSEEKLQILTALCHRILMTYSVQDHMETRQQMSAELWKERLAVLKEENDKKRAEKQKRKEMEAKNKENdk|KRAEKQKRKEMEAKNKENd

SYNTHESIZER:1:REGRESSION:1:1101:147960690:147970690,SYNTHESIZER:1:REGRESSION:1:1101:147960690:147970690,SYNTHESIZER:1:REGRESSION:2:1101:111891100:111901100,SYNTHESIZER:1:REGRESSION:2:1101:111891100:111901100,SYNTHESIZER:1:REGRESSION:2:1101:132026350:132036350,SYNTHESIZER:1:REGRESSION:2:1101:132026350:132036350,SYNTHESIZER:1:REGRESSION:3:1101:161982140:161992140,SYNTHESIZER:1:REGRESSION:3:1101:163374320:163384320,SYNTHESIZER:1:REGRESSION:3:1101:163374320:163384320,SYNTHESIZER:1:REGRESSION:3:1101:168675600:168685600,SYNTHESIZER:1:REGRESSION:4:1101:143931060:143941060,SYNTHESIZER:1:REGRESSION:1:1101:157643810:157653810,SYNTHESIZER:1:REGRESSION:4:1101:105875590:105885590,SYNTHESIZER:1:REGRESSION:4:1101:164159770:164169770,SYNTHESIZER:1:REGRESSION:4:1101:192638900:192648900,SYNTHESIZER:1:REGRESSION:3:1101:161982140:161992140,SYNTHESIZER:1:REGRESSION:3:1101:168675600:168685600,SYNTHESIZER:1:REGRESSION:4:1101:143931060:143941060

chr7:73477031-chr7:73477090

0.07096774193548387

0.011299435028248588

0.041133588481866226

False

FAIL

confidence_below_min(low<high)

STX16

NPEPL1

+/+

chr20:58673711

chr20:58691724

CDS/splice-site

5'UTR/splice-site

deletion/read-through

low

out-of-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

duplicates(2)

GACGATAACACTCTTTACCATCGG___GGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GtTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACcCCTGGGTGGAGCTTCCCC

DDNTLYHRGFTEDQLVLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|vgyeeetqnnrsglwnymevteegtnqrplsnqdvg*

SYNTHESIZER:1:REGRESSION:2:1101:156478760:156488760,SYNTHESIZER:1:REGRESSION:3:1101:138839090:138849090,SYNTHESIZER:1:REGRESSION:1:1101:178250240:178260240,SYNTHESIZER:1:REGRESSION:2:1101:116375130:116385130,SYNTHESIZER:1:REGRESSION:2:1101:151707580:151717580,SYNTHESIZER:1:REGRESSION:3:1101:101732110:101742110,SYNTHESIZER:1:REGRESSION:3:1101:149900710:149910710,SYNTHESIZER:1:REGRESSION:3:1101:185804560:185814560,SYNTHESIZER:1:REGRESSION:3:1101:195071800:195081800,SYNTHESIZER:1:REGRESSION:3:1101:196533860:196543860,SYNTHESIZER:1:REGRESSION:4:1101:142063050:142073050

chr20:58673711-chr20:58691724

0.020618556701030927

0.1891891891891892

0.10490387294511007

False

FAIL

confidence_below_min(low<high)

STX16

NPEPL1

+/+

chr20:58673711

chr20:58693737

CDS/splice-site

deletion/read-through

low

in-frame

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

ENSG00000124222.22

ENSG00000215440.12

ENST00000361830.7

ENST00000525967.5

downstream

upstream

GTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCCAACCCCACGGACAGCTGTCCCCTCTACCTGAACTACGCC

SCIKTEDGLKQLHK|LWQAALSTLNPNPTDSCPLYLNY

SYNTHESIZER:1:REGRESSION:2:1101:153648890:153658890

chr20:58673711-chr20:58693737

0.0

0.013157894736842105

0.006578947368421052

False

FAIL

confidence_below_min(low<high);total_reads_below_min(1.0<8.0)

SOGA3

KIAA0408

-/-

chr6:127473080

chr6:127454101

3'UTR

5'UTR/splice-site

deletion/read-through

low

stop-codon

Protein_SOGA_(100%)|Domain_of_unknown_function_(DUF4482)(100%)

ENSG00000214338.10

ENSG00000189367.15

ENST00000525778.5

ENST00000483725.8

upstream

downstream

duplicates(3),mismappers(1)

CTTCTCTTTGTCTTTGCATTTACCTTCCCAGATGTTCCAGCCTATCATTTTACTTATTCTCATTCTTGTATTATTTTCATCACTTTCTTACACAACAATATTTAAACTTGTCTTCCTTTTTACACTGTTTTTTGTACTGTAAATCTTTCATCATTTACCATTCATTGTAGTATTTTCAGTTTGTTTATTTTGTTCACCCTTCAAGACAAGAAGTAAAAGAAGTATAATTTCTGTAGTAACCAATGCTATAAAAACACTGAAGACTGCTTATTTCTTTA?AAAGATACAACTCATCTTACCAAGACCAAATTCAATAAGAAGCCCAAACACTAAAATATTTCAG|GCTTTATTTTAAAGGCAAGTGAGACTGCTTCAAATAAAACAACTTCAAGCTTCCAAGAAACAGTTAAGAGGAGGCAGAGAAGAGCAGAAACACTTCTTTGCTGACACTTACACTGTTGCCATGGACCTACATAAGCAGTGGGAGAACACAGAGACTAACTGGCATAAGGAAAAGATGGAATTACTGGACCAGTTTGACAATGAAAGAAAGGAATGGGAAAGTCAATGGAAGATTATGCAGAAGAAAATAGAAGAG___CTTTGCCGGGAAGTAAAGCTTTGGAGGAAAATCAATATCAATGAAcGTGCTAAGATCATTGATCTTTACCATGAGAAGACCAT

SYNTHESIZER:1:REGRESSION:1:1101:139942030:139952030,SYNTHESIZER:1:REGRESSION:1:1101:161927700:161937700,SYNTHESIZER:1:REGRESSION:1:1101:174053320:174063320,SYNTHESIZER:1:REGRESSION:2:1101:102758480:102768480,SYNTHESIZER:1:REGRESSION:2:1101:173391320:173401320,SYNTHESIZER:1:REGRESSION:3:1101:126265830:126275830,SYNTHESIZER:1:REGRESSION:4:1101:114576320:114586320,SYNTHESIZER:1:REGRESSION:4:1101:182634880:182644880,SYNTHESIZER:1:REGRESSION:1:1101:135817310:135827310,SYNTHESIZER:1:REGRESSION:3:1101:170471320:170481320,SYNTHESIZER:1:REGRESSION:3:1101:198861220:198871220

chr6:127473080-chr6:127454101

0.17647058823529413

0.23529411764705882

0.20588235294117646

False

FAIL

confidence_below_min(low<high);total_reads_below_min(7.0<8.0)

TUBA4B

TUBA4A

+/+

-/-

chr2:219271539

chr2:219250947

CDS

inversion

109

1374

low

out-of-frame

Tubulin/FtsZ_family__GTPase_domain(100%)|Tubulin_C-terminal_domain(100%)

ENSG00000243910.8

ENSG00000127824.14

ENST00000490341.3

ENST00000398989.2

downstream

AGCTTCTCTGCGCTTTGACGGGGCCCTCAATGT|ACCTGACAGAGTTCCAGACCAACCTGGTGCCCTACCCTCGCATCCACTTCCCCCTGG

ASLRFDGALNv|pdrvpdqpgalpshplpp

SYNTHESIZER:1:REGRESSION:4:1101:132613500:132623500

chr2:219271539-chr2:219250947

0.00909090909090909

0.0007272727272727272

0.004909090909090909

False

FAIL

confidence_below_min(low<high);total_reads_below_min(2.0<8.0)

RBM14

RBM4

+/+

chr11:66617057

chr11:66643450

CDS/splice-site

deletion/read-through

162

204

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(1)

ACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCAAACGAATGCACGTGCAGTTGTCCACCAGCCGGCTTAGGACTGCGCCCGGGATGGGAGACCAGAGCGGCTGCTATCGGTGCGGGAAAGAGGGGCACTGGTCCAAAGAGTGTCCGATAGATCGTTCAGGCCGCGTGGCAGACTTGAaCGAGC

TSQELRSLFERRGRVIECDVVK|gKRMHVQLSTSRLRTAPGMGDQSGCYRCGKEGHWSKECPIDRSGRVADLnE

SYNTHESIZER:1:REGRESSION:2:1101:186046680:186056680,SYNTHESIZER:1:REGRESSION:3:1101:163118200:163128200,SYNTHESIZER:1:REGRESSION:4:1101:169427560:169437560

chr11:66617057-chr11:66643450

0.0

0.009708737864077669

0.0048543689320388345

False

FAIL

confidence_below_min(low<high);total_reads_below_min(2.0<8.0)

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

162

185

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(1)

GTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCAT...GGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCTTTCCTCTCCTGCCCATTTTCCTGTTCTTCTGTCCTTCAATACTTCTGTAGCTTCCCA

SAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

SYNTHESIZER:1:REGRESSION:4:1101:107837050:107847050,SYNTHESIZER:1:REGRESSION:4:1101:178501800:178511800

chr11:66617057-chr11:66646027

0.0

0.005376344086021506

0.002688172043010753

False

FAIL

confidence_below_min(low<high);total_reads_below_min(1.0<8.0)

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

162

257

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(6),read_through(33)

ACGGTCATGAGCTGCGCCGTCATGAAACAGTTCGCCTTCGTGCACATGCGCGAGAACGCGGGCGCGCTGCGCGCCATCGAAGCCCTGCACGGCCACGAGCTGCGGCCGGGGCGCGCGCTCGTGGTGGAGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAGCTTCATGGGGTGAACATCAACGTGGAAGCCAGC

TVMSCAVMKQFAFVHMRENAGALRAIEALHGHELRPGRALVVEMSRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

SYNTHESIZER:1:REGRESSION:1:1101:134675920:134685920,SYNTHESIZER:1:REGRESSION:1:1101:176814280:176824280,SYNTHESIZER:1:REGRESSION:2:1101:104001560:104011560,SYNTHESIZER:1:REGRESSION:2:1101:126569310:126579310,SYNTHESIZER:1:REGRESSION:2:1101:130574640:130584640,SYNTHESIZER:1:REGRESSION:2:1101:135811210:135821210,SYNTHESIZER:1:REGRESSION:2:1101:146092470:146102470,SYNTHESIZER:1:REGRESSION:2:1101:167070800:167080800,SYNTHESIZER:1:REGRESSION:2:1101:193335460:193345460,SYNTHESIZER:1:REGRESSION:3:1101:119802240:119812240,SYNTHESIZER:1:REGRESSION:4:1101:194339120:194349120,SYNTHESIZER:1:REGRESSION:1:1101:107110750:107120750,SYNTHESIZER:1:REGRESSION:1:1101:116371920:116381920,SYNTHESIZER:1:REGRESSION:1:1101:139837070:139847070,SYNTHESIZER:1:REGRESSION:1:1101:157164450:157174450,SYNTHESIZER:1:REGRESSION:1:1101:162247920:162257920,SYNTHESIZER:1:REGRESSION:1:1101:166884950:166894950,SYNTHESIZER:1:REGRESSION:1:1101:199012080:199022080,SYNTHESIZER:1:REGRESSION:2:1101:105147080:105157080,SYNTHESIZER:1:REGRESSION:2:1101:129299300:129309300,SYNTHESIZER:1:REGRESSION:2:1101:132357180:132367180,SYNTHESIZER:1:REGRESSION:2:1101:136246760:136256760,SYNTHESIZER:1:REGRESSION:2:1101:144006140:144016140,SYNTHESIZER:1:REGRESSION:2:1101:156183740:156193740,SYNTHESIZER:1:REGRESSION:2:1101:175114780:175124780,SYNTHESIZER:1:REGRESSION:2:1101:194392420:194402420,SYNTHESIZER:1:REGRESSION:2:1101:198445180:198455180,SYNTHESIZER:1:REGRESSION:3:1101:110334560:110344560,SYNTHESIZER:1:REGRESSION:3:1101:116804060:116814060,SYNTHESIZER:1:REGRESSION:3:1101:122269700:122279700,SYNTHESIZER:1:REGRESSION:3:1101:137698890:137708890,SYNTHESIZER:1:REGRESSION:3:1101:149001470:149011470,SYNTHESIZER:1:REGRESSION:3:1101:153603870:153613870,SYNTHESIZER:1:REGRESSION:3:1101:153604070:153614070,SYNTHESIZER:1:REGRESSION:3:1101:181744040:181754040,SYNTHESIZER:1:REGRESSION:3:1101:194003200:194013200,SYNTHESIZER:1:REGRESSION:4:1101:169832480:169842480,SYNTHESIZER:1:REGRESSION:4:1101:172472820:172482820,SYNTHESIZER:1:REGRESSION:4:1101:180286560:180296560

chr11:66617057-chr11:66639700

0.0

False

FAIL

confidence_below_min(low<high);total_reads_below_min(0.0<8.0)

MALT1

+/+

chr18:58723251

chr18:58709378

CDS/splice-site

duplication/non-canonical_splicing

126

253

low

in-frame

Caspase_domain(31%),Immunoglobulin_domain(100%)|Caspase_domain(100%),Immunoglobulin_domain(53%),MALT1_Ig-like_domain(100%)

ENSG00000172175.15

ENST00000649217.2

downstream

upstream

ATTACCGGGAGCACCCCAAGCTCAAAGCTCCTTTGGTGGATGTGTACGAATTGACTAACTTACTGAGACAGCTGGACTTCAAAGTGGTTTCACTGTTGGATCTTACTGAATATGAGATGCGTAATGCTGTGGATGAGTTTTTACTCCTTTTAGACAAGGGAGTATATG|GAAGTGTTGATGGCGTCTCTGAATCCAAGTTGCAAATCTGTGTTGAACCAACTTCCCAAAAGCTGAT

YREHPKLKAPLVDVYELTNLLRQLDFKVVSLLDLTEYEMRNAVDEFLLLLDKGVY|gSVDGVSESKLQICVEPTSQKL

SYNTHESIZER:1:REGRESSION:2:1101:157873470:157883470,SYNTHESIZER:1:REGRESSION:3:1101:135785870:135795870

chr18:58723251-chr18:58709378

0.015625

0.0

0.0078125

False

FAIL

confidence_below_min(low<high);total_reads_below_min(2.0<8.0)

TMPRSS2

ERG

-/-

chr21:41508081

chr21:38584945

5'UTR/splice-site

deletion

low

|Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%)

ENSG00000184012.14

ENSG00000157554.19

ENST00000332149.10

ENST00000442448.5

upstream

downstream

AGCGCCGCCTGGAGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAGACAAATGACTCtCAGAGAAAAAAGATGGCAGAACCAAGGGCAACTAAAG___CCGTCAGGTTCTGAACAGCTGGTAGATGGGCTGGCTTACTGAAGGACATGATTCAGACTGTCCCGGACCCAGCAGCTCATATCAAGG

SYNTHESIZER:1:REGRESSION:1:1101:169432080:169442080

chr21:41508081-chr21:38584945

0.125

False

FAIL

confidence_below_min(low<high);total_reads_below_min(1.0<8.0)

30 rows