rna_s1200_S21.arriba.fusions.filtered.tsv

File Info

Filename: rna_s1200_S21.arriba.fusions.filtered.tsv
Full Path: s3://natera-rnd-pltf-dev-s3-gitlab-results/rnafusion/build2803241/baseline-run/63723170/arriba/rna_s1200_S21.arriba.fusions.filtered.tsv
Size: 45.6 KB
Workflow Run: gitlab-rnafusion-build2803241-baseline-run-63723170
Published: Jun 05, 2026 5:11 PM

Content

View in new tab

#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

141

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(5),mismatches(1)

CTGTGGAGGAGCTCTTCAAGCTGCTGAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAA

VEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQ

SYNTHESIZER:1:REGRESSION:1:1101:34880460:34890460,SYNTHESIZER:1:REGRESSION:1:1101:41244120:41254120,SYNTHESIZER:1:REGRESSION:1:1101:41260000:41270000,SYNTHESIZER:1:REGRESSION:1:1101:49350600:49360600,SYNTHESIZER:1:REGRESSION:1:1101:49402150:49412150,SYNTHESIZER:1:REGRESSION:1:1101:68040290:68050290,SYNTHESIZER:1:REGRESSION:1:1101:83249940:83259940,SYNTHESIZER:1:REGRESSION:1:1101:97233870:97243870,SYNTHESIZER:1:REGRESSION:2:1101:30722060:30732060,SYNTHESIZER:1:REGRESSION:2:1101:57524010:57534010,SYNTHESIZER:1:REGRESSION:2:1101:61323240:61333240,SYNTHESIZER:1:REGRESSION:2:1101:65879710:65889710,SYNTHESIZER:1:REGRESSION:3:1101:26578090:26588090,SYNTHESIZER:1:REGRESSION:3:1101:33716140:33726140,SYNTHESIZER:1:REGRESSION:3:1101:41854800:41864800,SYNTHESIZER:1:REGRESSION:3:1101:49608860:49618860,SYNTHESIZER:1:REGRESSION:3:1101:61200620:61210620,SYNTHESIZER:1:REGRESSION:3:1101:69111040:69121040,SYNTHESIZER:1:REGRESSION:3:1101:72481000:72491000,SYNTHESIZER:1:REGRESSION:4:1101:13036270:13046270,SYNTHESIZER:1:REGRESSION:4:1101:22353200:22363200,SYNTHESIZER:1:REGRESSION:4:1101:28479970:28489970,SYNTHESIZER:1:REGRESSION:4:1101:52511650:52521650,SYNTHESIZER:1:REGRESSION:4:1101:69995900:70005900,SYNTHESIZER:1:REGRESSION:1:1101:28051130:28061130,SYNTHESIZER:1:REGRESSION:1:1101:50174490:50184490,SYNTHESIZER:1:REGRESSION:1:1101:52961340:52971340,SYNTHESIZER:1:REGRESSION:1:1101:6243410:6253410,SYNTHESIZER:1:REGRESSION:1:1101:80529760:80539760,SYNTHESIZER:1:REGRESSION:1:1101:8425410:8435410,SYNTHESIZER:1:REGRESSION:1:1101:87889880:87899880,SYNTHESIZER:1:REGRESSION:1:1101:99213420:99223420,SYNTHESIZER:1:REGRESSION:2:1101:27149600:27159600,SYNTHESIZER:1:REGRESSION:2:1101:44764460:44774460,SYNTHESIZER:1:REGRESSION:2:1101:54154280:54164280,SYNTHESIZER:1:REGRESSION:2:1101:56369770:56379770,SYNTHESIZER:1:REGRESSION:2:1101:90495290:90505290,SYNTHESIZER:1:REGRESSION:2:1101:9544450:9554450,SYNTHESIZER:1:REGRESSION:3:1101:35280880:35290880,SYNTHESIZER:1:REGRESSION:3:1101:60441500:60451500,SYNTHESIZER:1:REGRESSION:3:1101:65504970:65514970,SYNTHESIZER:1:REGRESSION:3:1101:65791540:65801540,SYNTHESIZER:1:REGRESSION:3:1101:71258560:71268560,SYNTHESIZER:1:REGRESSION:3:1101:87128380:87138380,SYNTHESIZER:1:REGRESSION:3:1101:93427820:93437820,SYNTHESIZER:1:REGRESSION:4:1101:21171910:21181910,SYNTHESIZER:1:REGRESSION:4:1101:4577000:4587000,SYNTHESIZER:1:REGRESSION:4:1101:57509800:57519800,SYNTHESIZER:1:REGRESSION:4:1101:67524780:67534780,SYNTHESIZER:1:REGRESSION:4:1101:79947230:79957230,SYNTHESIZER:1:REGRESSION:4:1101:6194060:6204060,SYNTHESIZER:1:REGRESSION:4:1101:71335440:71345440

chr4:1806934-chr4:1739702

0.22279792746113988

0.14803625377643503

0.18541709061878747

False

PASS

LMNA

NTRK1

+/+

chr1:156130773

chr1:156874906

CDS/splice-site

deletion

349

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(4),low_entropy(1)

GCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAG|GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACC___GCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATG

ARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAK|VSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHF

SYNTHESIZER:1:REGRESSION:1:1101:36363320:36373320,SYNTHESIZER:1:REGRESSION:1:1101:51281320:51291320,SYNTHESIZER:1:REGRESSION:1:1101:60878880:60888880,SYNTHESIZER:1:REGRESSION:1:1101:63699200:63709200,SYNTHESIZER:1:REGRESSION:1:1101:74283100:74293100,SYNTHESIZER:1:REGRESSION:1:1101:93263280:93273280,SYNTHESIZER:1:REGRESSION:2:1101:46809580:46819580,SYNTHESIZER:1:REGRESSION:2:1101:49502720:49512720,SYNTHESIZER:1:REGRESSION:3:1101:61339670:61349670,SYNTHESIZER:1:REGRESSION:4:1101:13375770:13385770,SYNTHESIZER:1:REGRESSION:4:1101:22891390:22901390,SYNTHESIZER:1:REGRESSION:4:1101:83123410:83133410,SYNTHESIZER:1:REGRESSION:4:1101:92420240:92430240,SYNTHESIZER:1:REGRESSION:4:1101:96862140:96872140,SYNTHESIZER:1:REGRESSION:1:1101:67566700:67576700,SYNTHESIZER:1:REGRESSION:2:1101:31411120:31421120,SYNTHESIZER:1:REGRESSION:2:1101:48911230:48921230,SYNTHESIZER:1:REGRESSION:2:1101:53244670:53254670,SYNTHESIZER:1:REGRESSION:2:1101:58614140:58624140,SYNTHESIZER:1:REGRESSION:2:1101:837380:847380,SYNTHESIZER:1:REGRESSION:2:1101:96068060:96078060,SYNTHESIZER:1:REGRESSION:3:1101:10266310:10276310,SYNTHESIZER:1:REGRESSION:3:1101:28659750:28669750,SYNTHESIZER:1:REGRESSION:3:1101:71272030:71282030,SYNTHESIZER:1:REGRESSION:3:1101:7999190:8009190,SYNTHESIZER:1:REGRESSION:3:1101:86272920:86282920,SYNTHESIZER:1:REGRESSION:3:1101:91269240:91279240,SYNTHESIZER:1:REGRESSION:4:1101:19005640:19015640,SYNTHESIZER:1:REGRESSION:4:1101:46042090:46052090,SYNTHESIZER:1:REGRESSION:4:1101:50758220:50768220

chr1:156130773-chr1:156874906

0.0332409972299169

0.1566265060240964

0.09493375162700665

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(9),mismatches(1)

CTGTGGAGGAGCTCTTCAAGCTGCTGAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|AATGTTATGGAACAGTTCAATCCTGGGCTGCGAAATTTAATAAACCTGGGGAAAAATTATGAGAAAGCTGTAAACG___CTATGATCCTGGCAGGAAAAGCCTACTACGATGGAGTGGCCAAGATCGGTGAGATTGCCACTGGGTCCCCCGT

VEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|NVMEQFNPGLRNLINLGKNYEKAVNAMILAGKAYYDGVAKIGEIATGSP

SYNTHESIZER:1:REGRESSION:1:1101:11271270:11281270,SYNTHESIZER:1:REGRESSION:1:1101:35109030:35119030,SYNTHESIZER:1:REGRESSION:1:1101:38838690:38848690,SYNTHESIZER:1:REGRESSION:1:1101:40392150:40402150,SYNTHESIZER:1:REGRESSION:1:1101:42849500:42859500,SYNTHESIZER:1:REGRESSION:1:1101:46057530:46067530,SYNTHESIZER:1:REGRESSION:1:1101:54511420:54521420,SYNTHESIZER:1:REGRESSION:1:1101:66861940:66871940,SYNTHESIZER:1:REGRESSION:1:1101:84946680:84956680,SYNTHESIZER:1:REGRESSION:2:1101:42089380:42099380,SYNTHESIZER:1:REGRESSION:2:1101:55616890:55626890,SYNTHESIZER:1:REGRESSION:2:1101:56578990:56588990,SYNTHESIZER:1:REGRESSION:2:1101:76883530:76893530,SYNTHESIZER:1:REGRESSION:2:1101:86153140:86163140,SYNTHESIZER:1:REGRESSION:3:1101:15185210:15195210,SYNTHESIZER:1:REGRESSION:3:1101:28128910:28138910,SYNTHESIZER:1:REGRESSION:3:1101:58463390:58473390,SYNTHESIZER:1:REGRESSION:3:1101:74943610:74953610,SYNTHESIZER:1:REGRESSION:3:1101:87706670:87716670,SYNTHESIZER:1:REGRESSION:4:1101:41316680:41326680,SYNTHESIZER:1:REGRESSION:4:1101:4348500:4358500,SYNTHESIZER:1:REGRESSION:4:1101:5140310:5150310,SYNTHESIZER:1:REGRESSION:4:1101:57102750:57112750,SYNTHESIZER:1:REGRESSION:4:1101:8342020:8352020,SYNTHESIZER:1:REGRESSION:4:1101:94707700:94717700,SYNTHESIZER:1:REGRESSION:1:1101:10416680:10426680,SYNTHESIZER:1:REGRESSION:3:1101:39082850:39092850,SYNTHESIZER:1:REGRESSION:2:1101:20960190:20970190,SYNTHESIZER:1:REGRESSION:3:1101:20963300:20973300,SYNTHESIZER:1:REGRESSION:4:1101:60973030:60983030

chr4:1806934-chr7:98362432

0.1891891891891892

0.18518518518518517

0.1871871871871872

False

PASS

ETV6

NTRK3

+/+

-/-

chr12:11869969

chr15:87940753

CDS/splice-site

translocation

195

high

in-frame

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

ENSG00000139083.11

ENSG00000140538.16

ENST00000396373.9

ENST00000394480.6

downstream

duplicates(1)

AGGCTCTCCGAGGACGGGCTGCATAGGGAAGGGAAGCCCATCAACCTCTCTCATCGGGAAGACCTGGCTTACATGAACCACATCATGGTCTCTGTCTCCCCGCCTGAAGAGCACGCCATGCCCATTGGGAGAATAGCAG|ATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAG___GCCCTGAAGGATCCCACC

RLSEDGLHREGKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGRIA|dVQHIKRRDIVLKRELGEGAFGKVFLAECYNLSPTKDKMLVAVKALKDP

SYNTHESIZER:1:REGRESSION:1:1101:89693730:89703730,SYNTHESIZER:1:REGRESSION:3:1101:96422090:96432090,SYNTHESIZER:1:REGRESSION:4:1101:14366840:14376840,SYNTHESIZER:1:REGRESSION:4:1101:46242410:46252410,SYNTHESIZER:1:REGRESSION:4:1101:83513290:83523290,SYNTHESIZER:1:REGRESSION:1:1101:46890280:46900280,SYNTHESIZER:1:REGRESSION:1:1101:62249160:62259160,SYNTHESIZER:1:REGRESSION:1:1101:83615090:83625090,SYNTHESIZER:1:REGRESSION:2:1101:30913640:30923640,SYNTHESIZER:1:REGRESSION:2:1101:54231830:54241830,SYNTHESIZER:1:REGRESSION:4:1101:37250030:37260030,SYNTHESIZER:1:REGRESSION:4:1101:98267340:98277340

chr12:11869969-chr15:87940753

0.025

0.35294117647058826

0.18897058823529414

False

PASS

KIF5B

RET

-/-

+/+

chr10:32017143

chr10:43114480

CDS/splice-site

inversion

153

high

in-frame

Kinesin_motor_domain(100%)|Protein_kinase_domain(100%)

ENSG00000170759.11

ENSG00000165731.20

ENST00000302418.5

ENST00000355710.8

upstream

duplicates(2)

CGTGATCGCAAACGCTATCAGCAAGAAGTAGATCGCATAAAGGAAGCAGTCAGGTCAAAGAATATGGCCAGAAGAGGGCATTCTGCACAGATTG|ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCAC

RDRKRYQQEVDRIKEAVRSKNMARRGHSAQI|dPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCYHKFAHKP

SYNTHESIZER:1:REGRESSION:3:1101:98713850:98723850,SYNTHESIZER:1:REGRESSION:1:1101:50600840:50610840,SYNTHESIZER:1:REGRESSION:1:1101:62528620:62538620,SYNTHESIZER:1:REGRESSION:2:1101:54674900:54684900,SYNTHESIZER:1:REGRESSION:2:1101:61557770:61567770,SYNTHESIZER:1:REGRESSION:3:1101:1751670:1761670,SYNTHESIZER:1:REGRESSION:3:1101:90250180:90260180,SYNTHESIZER:1:REGRESSION:4:1101:10754780:10764780,SYNTHESIZER:1:REGRESSION:4:1101:22443210:22453210,SYNTHESIZER:1:REGRESSION:4:1101:533760:543760,SYNTHESIZER:1:REGRESSION:4:1101:89687090:89697090,SYNTHESIZER:1:REGRESSION:4:1101:96585540:96595540

chr10:32017143-chr10:43114480

0.006493506493506494

0.25

0.12824675324675325

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(1)

CTTCCTCTTTATCTAGCTCCGCCTTTTTGGATCTGCAGCAAGTCGGCTCCGGGGTCCCGCCCTTCAATGCCTTTCCCCATGCTGCCTCCGTGTACGGGCAGTTCACGGGCCAGGCCCTCCTCTCAG|AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCCAG

SSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLS|eMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFS

SYNTHESIZER:1:REGRESSION:2:1101:84478580:84488580,SYNTHESIZER:1:REGRESSION:1:1101:16887500:16897500,SYNTHESIZER:1:REGRESSION:1:1101:37680630:37690630,SYNTHESIZER:1:REGRESSION:2:1101:81157010:81167010,SYNTHESIZER:1:REGRESSION:3:1101:14604220:14614220,SYNTHESIZER:1:REGRESSION:3:1101:81025040:81035040,SYNTHESIZER:1:REGRESSION:4:1101:32146510:32156510,SYNTHESIZER:1:REGRESSION:4:1101:32584600:32594600,SYNTHESIZER:1:REGRESSION:4:1101:84808600:84818600

chr2:113235394-chr3:12379704

0.125

0.2692307692307692

0.1971153846153846

False

PASS

TFG

NTRK1

+/+

chr3:100732672

chr1:156874571

CDS/splice-site

translocation

162

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

duplicates(1)

CCAGGACCTTCCACCAATATTCCTGAAAATG___ATACTGTGGATGGTAGGGAAGAAAAGTCTGCTTCTGATTCTTCTGGAAAACAGTCTACTCAGGTTATGGCAGCAAGTATGTCTGCTTTTGATCCTTTAAAAAACCAAGATGAAATCAATAAAAATGTTATGTCAGCGTTTGGCTTAACAGATGATCAGGTTTCAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGAC

PGPSTNIPENDTVDGREEKSASDSSGKQSTQVMAASMSAFDPLKNQDEINKNVMSAFGLTDDQVS|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCG

SYNTHESIZER:1:REGRESSION:1:1101:70534020:70544020,SYNTHESIZER:1:REGRESSION:1:1101:84163250:84173250,SYNTHESIZER:1:REGRESSION:2:1101:21446870:21456870,SYNTHESIZER:1:REGRESSION:3:1101:31015700:31025700,SYNTHESIZER:1:REGRESSION:3:1101:62094520:62104520,SYNTHESIZER:1:REGRESSION:4:1101:13534050:13544050,SYNTHESIZER:1:REGRESSION:4:1101:20342280:20352280,SYNTHESIZER:1:REGRESSION:4:1101:8187220:8197220

chr3:100732672-chr1:156874571

0.03571428571428571

0.05263157894736842

0.044172932330827065

False

FAIL

total_reads_below_min(7.0<8.0)

NCOA4

RET

-/-

+/+

chr10:46012883

chr10:43116584

CDS/splice-site

inversion

231

high

in-frame

Nuclear_coactivator(62%)|Protein_kinase_domain(100%)

ENSG00000266412.6

ENSG00000165731.20

ENST00000581486.6

ENST00000355710.8

upstream

duplicates(1)

CAGCATCCGGTATTGTAGCTGTCCCTTTCAGCGAATGGCTCCTTGGAAGCAAACCTGCCAGTGGTTATCAAGCTCCTTACATACCCAGCACCGACCCCCAGGACTGGCTTACCCAAAAGCAGACCTTGGAGAACAGTCAG|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCT

ASGIVAVPFSEWLLGSKPASGYQAPYIPSTDPQDWLTQKQTLENSQ|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKM

SYNTHESIZER:1:REGRESSION:1:1101:12974860:12984860,SYNTHESIZER:1:REGRESSION:1:1101:53409600:53419600,SYNTHESIZER:1:REGRESSION:1:1101:64462730:64472730,SYNTHESIZER:1:REGRESSION:2:1101:15646250:15656250,SYNTHESIZER:1:REGRESSION:4:1101:17711310:17721310,SYNTHESIZER:1:REGRESSION:2:1101:11054120:11064120,SYNTHESIZER:1:REGRESSION:4:1101:64967110:64977110,SYNTHESIZER:1:REGRESSION:4:1101:99728030:99738030

chr10:46012883-chr10:43116584

0.01282051282051282

0.06349206349206349

0.03815628815628815

False

FAIL

total_reads_below_min(7.0<8.0)

CCDC6

RET

-/-

+/+

chr10:59906122

chr10:43116584

CDS/splice-site

inversion

110

high

in-frame

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

ENSG00000108091.11

ENSG00000165731.20

ENST00000263102.7

ENST00000355710.8

upstream

AGCAAGAGAACAAGGTGCTGAAGATAGAGCTGGAGACCTACAAACTGAAGTGCAAGGCACTGCAGGAGGAGAACCGCGACCTGCGCAAAGCCAGCGTGACCATC|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCC

QENKVLKIELETYKLKCKALQEENRDLRKASVTI|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTV

SYNTHESIZER:1:REGRESSION:1:1101:93715690:93725690,SYNTHESIZER:1:REGRESSION:2:1101:96039050:96049050,SYNTHESIZER:1:REGRESSION:3:1101:60823020:60833020,SYNTHESIZER:1:REGRESSION:4:1101:71986860:71996860,SYNTHESIZER:1:REGRESSION:1:1101:9795350:9805350,SYNTHESIZER:1:REGRESSION:3:1101:6818570:6828570

chr10:59906122-chr10:43116584

0.017857142857142856

0.06349206349206349

0.04067460317460317

False

FAIL

total_reads_below_min(6.0<8.0)

ACIN1

-/-

chr14:23079590

chr14:23079595

CDS

duplication/ITD

medium

in-frame

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

ENSG00000100813.14

ENST00000262710.5

upstream

downstream

duplicates(7)

CCTCATCTTCCTCCTCCAGTTCTAGATCAAGATCTCGCTCTCCTGACAGTTCAGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCACGTTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCACAACTGCAGG

SSSSSSSRSRSRSPDSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRSRSRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVPQLQ

SYNTHESIZER:1:REGRESSION:1:1101:49353540:49363540,SYNTHESIZER:1:REGRESSION:1:1101:58398110:58408110,SYNTHESIZER:1:REGRESSION:1:1101:71080980:71090980,SYNTHESIZER:1:REGRESSION:1:1101:89613500:89623500,SYNTHESIZER:1:REGRESSION:1:1101:92302270:92312270,SYNTHESIZER:1:REGRESSION:2:1101:10925300:10935300,SYNTHESIZER:1:REGRESSION:2:1101:17491080:17501080,SYNTHESIZER:1:REGRESSION:2:1101:31506730:31516730,SYNTHESIZER:1:REGRESSION:2:1101:3259740:3269740,SYNTHESIZER:1:REGRESSION:2:1101:66744500:66754500,SYNTHESIZER:1:REGRESSION:2:1101:92945370:92955370,SYNTHESIZER:1:REGRESSION:2:1101:96397290:96407290,SYNTHESIZER:1:REGRESSION:3:1101:10541170:10551170,SYNTHESIZER:1:REGRESSION:3:1101:1459520:1469520,SYNTHESIZER:1:REGRESSION:3:1101:54603360:54613360,SYNTHESIZER:1:REGRESSION:3:1101:5868930:5878930,SYNTHESIZER:1:REGRESSION:3:1101:90834060:90844060,SYNTHESIZER:1:REGRESSION:4:1101:11765120:11775120,SYNTHESIZER:1:REGRESSION:4:1101:42265860:42275860,SYNTHESIZER:1:REGRESSION:4:1101:69624270:69634270,SYNTHESIZER:1:REGRESSION:1:1101:41141110:41151110,SYNTHESIZER:1:REGRESSION:1:1101:48662050:48672050,SYNTHESIZER:1:REGRESSION:1:1101:63807400:63817400,SYNTHESIZER:1:REGRESSION:2:1101:26728870:26738870,SYNTHESIZER:1:REGRESSION:2:1101:44451630:44461630,SYNTHESIZER:1:REGRESSION:2:1101:59769460:59779460,SYNTHESIZER:1:REGRESSION:2:1101:88411480:88421480,SYNTHESIZER:1:REGRESSION:2:1101:89026950:89036950,SYNTHESIZER:1:REGRESSION:2:1101:96417590:96427590,SYNTHESIZER:1:REGRESSION:3:1101:11255690:11265690,SYNTHESIZER:1:REGRESSION:3:1101:14947470:14957470,SYNTHESIZER:1:REGRESSION:3:1101:33188850:33198850,SYNTHESIZER:1:REGRESSION:3:1101:47000720:47010720,SYNTHESIZER:1:REGRESSION:3:1101:52630220:52640220,SYNTHESIZER:1:REGRESSION:3:1101:6281980:6291980,SYNTHESIZER:1:REGRESSION:3:1101:74427970:74437970,SYNTHESIZER:1:REGRESSION:3:1101:80218300:80228300,SYNTHESIZER:1:REGRESSION:3:1101:97732470:97742470,SYNTHESIZER:1:REGRESSION:4:1101:10125380:10135380,SYNTHESIZER:1:REGRESSION:4:1101:16060430:16070430,SYNTHESIZER:1:REGRESSION:4:1101:48183160:48193160,SYNTHESIZER:1:REGRESSION:4:1101:53059610:53069610

chr14:23079590-chr14:23079595

0.20987654320987653

0.2

0.20493827160493827

True

aih_curated_blacklist

score(3)

FAIL

confidence_below_min(medium<high);aih_curated_blacklist

NCOR2

-/-

chr12:124402513

chr12:124402515

CDS

duplication/ITD

137

medium

in-frame

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

ENSG00000196498.13

ENST00000458234.5

upstream

downstream

duplicates(7),low_entropy(14),mismappers(1)

CTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAG___CAGCAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|AGCCCATGCCCCGCAGCAGCCAGGAGGAGAAAGATGAGAAGGAGAAGGAAAAGGAGGCGGAGAAGGAGGAGGAGAAGCCGG

YYYLTKKNENYKSLVRRSYRRRGKSQQQQQQQQQQQQQQQQQ|qPMPRSSQEEKDEKEKEKEAEKEEEKP

SYNTHESIZER:1:REGRESSION:1:1101:20712900:20722900,SYNTHESIZER:1:REGRESSION:1:1101:37529580:37539580,SYNTHESIZER:1:REGRESSION:1:1101:4049500:4059500,SYNTHESIZER:1:REGRESSION:1:1101:47677070:47687070,SYNTHESIZER:1:REGRESSION:1:1101:51124080:51134080,SYNTHESIZER:1:REGRESSION:1:1101:57460100:57470100,SYNTHESIZER:1:REGRESSION:1:1101:66806090:66816090,SYNTHESIZER:1:REGRESSION:1:1101:71640040:71650040,SYNTHESIZER:1:REGRESSION:1:1101:72660510:72670510,SYNTHESIZER:1:REGRESSION:1:1101:95398230:95408230,SYNTHESIZER:1:REGRESSION:2:1101:14410430:14420430,SYNTHESIZER:1:REGRESSION:2:1101:31577660:31587660,SYNTHESIZER:1:REGRESSION:2:1101:36334350:36344350,SYNTHESIZER:1:REGRESSION:2:1101:37522470:37532470,SYNTHESIZER:1:REGRESSION:2:1101:42620260:42630260,SYNTHESIZER:1:REGRESSION:2:1101:46516570:46526570,SYNTHESIZER:1:REGRESSION:2:1101:49709220:49719220,SYNTHESIZER:1:REGRESSION:2:1101:61668840:61678840,SYNTHESIZER:1:REGRESSION:2:1101:79135810:79145810,SYNTHESIZER:1:REGRESSION:2:1101:96028790:96038790,SYNTHESIZER:1:REGRESSION:3:1101:22375040:22385040,SYNTHESIZER:1:REGRESSION:3:1101:22664930:22674930,SYNTHESIZER:1:REGRESSION:3:1101:26599210:26609210,SYNTHESIZER:1:REGRESSION:3:1101:36650920:36660920,SYNTHESIZER:1:REGRESSION:3:1101:4267810:4277810,SYNTHESIZER:1:REGRESSION:3:1101:53155410:53165410,SYNTHESIZER:1:REGRESSION:3:1101:5755970:5765970,SYNTHESIZER:1:REGRESSION:3:1101:6565890:6575890,SYNTHESIZER:1:REGRESSION:3:1101:8202630:8212630,SYNTHESIZER:1:REGRESSION:3:1101:96597300:96607300,SYNTHESIZER:1:REGRESSION:4:1101:10963620:10973620,SYNTHESIZER:1:REGRESSION:4:1101:21426640:21436640,SYNTHESIZER:1:REGRESSION:4:1101:25052360:25062360,SYNTHESIZER:1:REGRESSION:4:1101:28979600:28989600,SYNTHESIZER:1:REGRESSION:4:1101:29376740:29386740,SYNTHESIZER:1:REGRESSION:4:1101:30205590:30215590,SYNTHESIZER:1:REGRESSION:4:1101:43024980:43034980,SYNTHESIZER:1:REGRESSION:4:1101:45282880:45292880,SYNTHESIZER:1:REGRESSION:4:1101:48138800:48148800,SYNTHESIZER:1:REGRESSION:4:1101:50862190:50872190,SYNTHESIZER:1:REGRESSION:4:1101:90664580:90674580,SYNTHESIZER:1:REGRESSION:1:1101:47660510:47670510,SYNTHESIZER:1:REGRESSION:2:1101:31229230:31239230,SYNTHESIZER:1:REGRESSION:3:1101:18423110:18433110

chr12:124402513-chr12:124402515

0.13291139240506328

0.012345679012345678

0.07262853570870448

False

FAIL

confidence_below_min(medium<high)

ZNF814

-/-

chr19:57874500

chr19:57874583

CDS

duplication/ITD

medium

in-frame

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

ENSG00000204514.10

ENST00000435989.7

upstream

downstream

duplicates(14)

CTGCTCACTAGAGAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT?AATGTGGAG

LLTREECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKKH?CG

SYNTHESIZER:1:REGRESSION:1:1101:52616720:52626720,SYNTHESIZER:1:REGRESSION:1:1101:52616720:52626720,SYNTHESIZER:1:REGRESSION:1:1101:52616720:52626720,SYNTHESIZER:1:REGRESSION:1:1101:72697130:72707130,SYNTHESIZER:1:REGRESSION:1:1101:86921620:86931620,SYNTHESIZER:1:REGRESSION:2:1101:37154620:37164620,SYNTHESIZER:1:REGRESSION:2:1101:41974830:41984830,SYNTHESIZER:1:REGRESSION:3:1101:79807580:79817580,SYNTHESIZER:1:REGRESSION:4:1101:25696960:25706960,SYNTHESIZER:1:REGRESSION:4:1101:4736890:4746890,SYNTHESIZER:1:REGRESSION:4:1101:4736890:4746890,SYNTHESIZER:1:REGRESSION:4:1101:4736890:4746890,SYNTHESIZER:1:REGRESSION:1:1101:52616720:52626720,SYNTHESIZER:1:REGRESSION:1:1101:86921620:86931620,SYNTHESIZER:1:REGRESSION:3:1101:79807580:79817580,SYNTHESIZER:1:REGRESSION:4:1101:25696960:25706960,SYNTHESIZER:1:REGRESSION:4:1101:4736890:4746890,SYNTHESIZER:1:REGRESSION:1:1101:6259630:6269630,SYNTHESIZER:1:REGRESSION:1:1101:72697130:72707130,SYNTHESIZER:1:REGRESSION:1:1101:72697130:72707130,SYNTHESIZER:1:REGRESSION:2:1101:37154620:37164620,SYNTHESIZER:1:REGRESSION:2:1101:41974830:41984830,SYNTHESIZER:1:REGRESSION:2:1101:41974830:41984830,SYNTHESIZER:1:REGRESSION:2:1101:62125710:62135710,SYNTHESIZER:1:REGRESSION:1:1101:72697130:72707130,SYNTHESIZER:1:REGRESSION:2:1101:41974830:41984830

chr19:57874500-chr19:57874583

0.1568627450980392

0.06666666666666667

0.11176470588235293

True

aih_curated_blacklist

score(3)

FAIL

confidence_below_min(medium<high);aih_curated_blacklist

DDX11

+/+

chr12:31084016

chr12:31084008

CDS

duplication/ITD

122

150

medium

in-frame

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

ENSG00000013573.17

ENST00000542838.6

downstream

upstream

duplicates(27)

CCCCTTACATGATGAGAAAGATGAATCCCTGTGTCTGTCTTCcTCCTGCGAAGGGGCTGCAGGCACCCCGAGGCCTGCTGGAGAACCGGCCTGGGTTACTCAG|GTTACTCAGTTTGTGCAGAAGAAAGAAGAGAGGGACCTGGTGaACCGACTgAAG___GCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAAtGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTG

PLHDEKDESLCLSSSCEGAAGTPRPAGEPAWVTQ|VTQFVQKKEERDLVnRLKAEQARRKQREEcLQQLQHRVQLKYAAKR

SYNTHESIZER:1:REGRESSION:1:1101:35182630:35192630,SYNTHESIZER:1:REGRESSION:1:1101:35182630:35192630,SYNTHESIZER:1:REGRESSION:2:1101:22937790:22947790,SYNTHESIZER:1:REGRESSION:2:1101:34694790:34704790,SYNTHESIZER:1:REGRESSION:2:1101:57897920:57907920,SYNTHESIZER:1:REGRESSION:2:1101:57897920:57907920,SYNTHESIZER:1:REGRESSION:3:1101:19744140:19754140,SYNTHESIZER:1:REGRESSION:3:1101:97255420:97265420,SYNTHESIZER:1:REGRESSION:3:1101:97255420:97265420,SYNTHESIZER:1:REGRESSION:3:1101:97255420:97265420,SYNTHESIZER:1:REGRESSION:3:1101:97255420:97265420,SYNTHESIZER:1:REGRESSION:4:1101:27404410:27414410,SYNTHESIZER:1:REGRESSION:4:1101:27404410:27414410,SYNTHESIZER:1:REGRESSION:4:1101:27404410:27414410,SYNTHESIZER:1:REGRESSION:4:1101:27404410:27414410,SYNTHESIZER:1:REGRESSION:4:1101:50861170:50871170,SYNTHESIZER:1:REGRESSION:4:1101:50861170:50871170,SYNTHESIZER:1:REGRESSION:4:1101:50861170:50871170,SYNTHESIZER:1:REGRESSION:4:1101:50861170:50871170,SYNTHESIZER:1:REGRESSION:4:1101:92174740:92184740,SYNTHESIZER:1:REGRESSION:4:1101:92174740:92184740,SYNTHESIZER:1:REGRESSION:4:1101:92174740:92184740,SYNTHESIZER:1:REGRESSION:4:1101:92174740:92184740,SYNTHESIZER:1:REGRESSION:1:1101:35533160:35543160,SYNTHESIZER:1:REGRESSION:1:1101:35533160:35543160,SYNTHESIZER:1:REGRESSION:1:1101:35533160:35543160,SYNTHESIZER:1:REGRESSION:2:1101:22937790:22947790,SYNTHESIZER:1:REGRESSION:2:1101:22937790:22947790,SYNTHESIZER:1:REGRESSION:2:1101:22937790:22947790,SYNTHESIZER:1:REGRESSION:2:1101:34694790:34704790,SYNTHESIZER:1:REGRESSION:2:1101:34694790:34704790,SYNTHESIZER:1:REGRESSION:2:1101:34694790:34704790,SYNTHESIZER:1:REGRESSION:3:1101:19744140:19754140,SYNTHESIZER:1:REGRESSION:3:1101:19744140:19754140,SYNTHESIZER:1:REGRESSION:3:1101:19744140:19754140,SYNTHESIZER:1:REGRESSION:3:1101:43516410:43526410,SYNTHESIZER:1:REGRESSION:3:1101:80856710:80866710,SYNTHESIZER:1:REGRESSION:3:1101:80856710:80866710,SYNTHESIZER:1:REGRESSION:3:1101:80856710:80866710

chr12:31084016-chr12:31084008

0.03937007874015748

0.044585987261146494

0.04197803300065199

False

FAIL

confidence_below_min(medium<high)

CD74

ROS1

-/-

chr5:150404680

chr6:117324415

CDS/splice-site

translocation

3913

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(2)

CCCGGAGAACCTGAGACACCTTAAGAACACCATGGAGACCATAGACTGGAAG___GTCTTTGAGAGCTGGATGCACCATTGGCTCCTGTTTGAAATGAGCAGGCACTCCTTGGAGCAAAAGCCCACTGACGCTCCACCGAAAG|ATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG___TCTGGCATAGAAGATTAAAGAATCAAAAAAGTGCCAAGGAAGGGGTGACAGTGCTTATAAACGAAGACAAAGAGTTGGCTGAGCTGCGAGGTCTGGCAGCCGGAGTAGGCCTGGCTAATGCCTGCTATGCAATACA

PENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPK|dDFWIPETSFILTIIVGIFLVVTIPLTFVWHRRLKNQKSAKEGVTVLINEDKELAELRGLAAGVGLANACYAI

SYNTHESIZER:1:REGRESSION:3:1101:26182540:26192540,SYNTHESIZER:1:REGRESSION:3:1101:59193120:59203120,SYNTHESIZER:1:REGRESSION:4:1101:56356590:56366590,SYNTHESIZER:1:REGRESSION:4:1101:81680000:81690000,SYNTHESIZER:1:REGRESSION:4:1101:88080800:88090800,SYNTHESIZER:1:REGRESSION:1:1101:45221450:45231450,SYNTHESIZER:1:REGRESSION:1:1101:65779580:65789580,SYNTHESIZER:1:REGRESSION:2:1101:12516850:12526850,SYNTHESIZER:1:REGRESSION:2:1101:39479650:39489650,SYNTHESIZER:1:REGRESSION:3:1101:57529150:57539150,SYNTHESIZER:1:REGRESSION:4:1101:51045480:51055480,SYNTHESIZER:1:REGRESSION:4:1101:78948620:78958620

chr5:150404680-chr6:117324415

0.001276161306789178

0.2631578947368421

0.13221702802181565

False

FAIL

confidence_below_min(medium<high)

SLC45A3

BRAF

-/-

chr1:205680394

chr7:140794467

5'UTR/splice-site

CDS/splice-site

translocation

161

medium

|Protein_kinase_domain(100%)

ENSG00000158715.6

ENSG00000157764.14

ENST00000367145.4

ENST00000644969.2

upstream

downstream

mismatches(1)

CGGGTGACAGCCGCGCGCCTCGGCCAG|GCCCCAAATTCTCACCAGTCCGTCTCCTTCAAAATCCATTCCAATTCCACAGCCCTTCCGACCAGCAGATGAAGATCATCGAAATCAATTTGGGCAACGAGACCGATCCTCATCAGCTCCCAATGTGCATATAAAC

SYNTHESIZER:1:REGRESSION:1:1101:38192480:38202480,SYNTHESIZER:1:REGRESSION:2:1101:57243320:57253320,SYNTHESIZER:1:REGRESSION:2:1101:66202390:66212390,SYNTHESIZER:1:REGRESSION:3:1101:15659710:15669710,SYNTHESIZER:1:REGRESSION:4:1101:7592960:7602960

chr1:205680394-chr7:140794467

0.024242424242424242

False

FAIL

confidence_below_min(medium<high);total_reads_below_min(4.0<8.0)

EGFR

SEPTIN14

+/+

-/-

chr7:55200413

chr7:55796092

CDS/splice-site

inversion

medium

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(2)

GTCTGGAGCTACG___GGGTGACcGTTTGGGAGTTGATGACCTTTGGATCCAAGCCATATGACGGAATCCCTGCCAGCGAGATCTCCTCCATCCTGGAGAAAGGAGAACGCCTCCCTCAGCCACCCATATGTACCATCGATGTCTACATGATCATGGTCAAGT___GCTGGATGATAGACGCAGATAGTCGCCCAAAGTTCCGTGAGTTGATCATCGAATTCTCCAAAATGGCCCGAGACCCCCAGCGCTACCTTGTCATTCAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAA

VWSYGVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQ|LQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKM

SYNTHESIZER:1:REGRESSION:1:1101:19530920:19540920,SYNTHESIZER:1:REGRESSION:1:1101:82738580:82748580,SYNTHESIZER:1:REGRESSION:1:1101:96441660:96451660,SYNTHESIZER:1:REGRESSION:3:1101:55893390:55903390,SYNTHESIZER:1:REGRESSION:4:1101:51624220:51634220

chr7:55200413-chr7:55796092

0.21428571428571427

0.0

0.10714285714285714

False

FAIL

confidence_below_min(medium<high);total_reads_below_min(3.0<8.0)

EML4

ALK

+/+

-/-

chr2:42295516

chr2:29223528

CDS/splice-site

inversion

medium

in-frame

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

ENSG00000143924.19

ENSG00000171094.18

ENST00000318522.10

ENST00000389048.8

downstream

GCCCACACCTGGGAAAGGACCTAAAG|TGTACCGCCGGAAGCACCAGGAGCTGCAAGCCATGCAGATGGAGCTGCAGAGCCCTGAGTACAAGCTGAGCAAGCTCCGCACCTCGACCATCATGACCGACTACAACCCC

PTPGKGPK|vYRRKHQELQAMQMELQSPEYKLSKLRTSTIMTDYN

SYNTHESIZER:1:REGRESSION:2:1101:39670450:39680450,SYNTHESIZER:1:REGRESSION:3:1101:60475410:60485410

chr2:42295516-chr2:29223528

0.0

0.2857142857142857

0.14285714285714285

False

FAIL

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

TPM3

NTRK1

-/-

+/+

chr1:154170400

chr1:156874571

CDS/splice-site

inversion

681

medium

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

AGTGTCTGAGTGCTGCcGAAGAAAAG___TACTCTCAAAAAGAAGATAAATATGAGGAAGAAATCAAGATTCTTACTGATAAACTCAAGGAG___GCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGG

CLSAAEEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLE|dTNSTSGDPV

SYNTHESIZER:1:REGRESSION:1:1101:68198860:68208860,SYNTHESIZER:1:REGRESSION:3:1101:59083260:59093260

chr1:154170400-chr1:156874571

0.0029282576866764276

0.0

0.0014641288433382138

False

FAIL

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

BOLA2B

SMG1P5

-/-

chr16:30193358

chr16:30288681

CDS/splice-site

exon

duplication

1212

293

medium

out-of-frame

BolA-like_protein(62%)|

ENSG00000169627.9

ENSG00000183604.14

ENST00000305321.4

ENST00000529428.5

upstream

downstream

CCGAGTCCTGGTGGTGTCGGCCAAGTTCGAGGGGAAACCGCTGCTTCAGAGACACAG|CTTGGATCCTAGCATGACTATACATTGTGACATGGTCATTACATATGGATTAGACCAACTGGAGAATTGCCAGACTTGTGGTACCAATTATATCATCTCAGTCTTGAATTTACTCACGCTG

RVLVVSAKFEGKPLLQRHs|ldpsmtihcdmvitygldqlencqtcgtnyiisvlnllt

SYNTHESIZER:1:REGRESSION:3:1101:23676460:23686460,SYNTHESIZER:1:REGRESSION:4:1101:27382250:27392250

chr16:30193358-chr16:30288681

0.0

0.006779661016949152

0.003389830508474576

False

FAIL

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

NBEAL2

+/+

chr3:47002102

chr3:47002085

CDS

duplication/ITD

153

162

low

in-frame

Domain_of_unknown_function_(DUF4800)(25%),Neurobeachin/BDCP__DUF4704_alpha_solenoid_region(100%)|Beige/BEACH_domain(100%),Domain_of_unknown_function_(DUF4800)(77%),PH_domain_associated_with_Beige/BEACH(100%),WD_domain__G-beta_repeat(100%)

ENSG00000160796.18

ENST00000450053.8

downstream

upstream

duplicates(3),low_entropy(2)

TCGCCTGGGAGCCTGGCCCCACCTGGCCAACGGCACAGCTGATCTCCGTGAGATGGCGCAGATTGGCCTACGGCTTGTACTTGGCTACATCCTGCTGGAAGACCCACAG___CTGCATGCCCAGGCCTACGTGAGATTGCACATGCTGCTACAGACTGCAGTGCCAGCCCGCCGCGAGGAGGCCTGCTATGTGCTCTCCAAGCTGGAGGCTGCACTGGGGCGGGTGCTGAACACCTCTTCCTTGGAGTCAGCCACTGATGAGGCAGGGTCCCCACTTGCAGCTGCAGCAGCTGCA|GCAGCTGCAGCAGCTGCAGCAGCTGCAGAGCGCTGCTCCTGGCTGGTaCCACTGGTGCGCACGCTGCTAGACCGTGCCTATGAGCCGCTGGGGCTGCAGTGGGGACTGCCCTCCCTGCCACCCACCAATGGCAGCCCCACCTTCTTTGAAGACTTCCAGGCTTTTTGTGCCACACCCGAATGGCGCCACTTCATCGACAAACAG___GTACAGCCAAC

RLGAWPHLANGTADLREMAQIGLRLVLGYILLEDPQLHAQAYVRLHMLLQTAVPARREEACYVLSKLEAALGRVLNTSSLESATDEAGSPLAAAAAA|AAAAAAAAAERCSWLVPLVRTLLDRAYEPLGLQWGLPSLPPTNGSPTFFEDFQAFCATPEWRHFIDKQVQP

SYNTHESIZER:1:REGRESSION:1:1101:66780220:66790220,SYNTHESIZER:1:REGRESSION:2:1101:83644800:83654800,SYNTHESIZER:1:REGRESSION:2:1101:94149810:94159810,SYNTHESIZER:1:REGRESSION:2:1101:96290870:96300870,SYNTHESIZER:1:REGRESSION:3:1101:47067690:47077690,SYNTHESIZER:1:REGRESSION:3:1101:48373830:48383830,SYNTHESIZER:1:REGRESSION:3:1101:50891560:50901560,SYNTHESIZER:1:REGRESSION:4:1101:29885310:29895310,SYNTHESIZER:1:REGRESSION:4:1101:60951620:60961620,SYNTHESIZER:1:REGRESSION:1:1101:2117320:2127320,SYNTHESIZER:1:REGRESSION:1:1101:30351600:30361600,SYNTHESIZER:1:REGRESSION:1:1101:89117320:89127320,SYNTHESIZER:1:REGRESSION:1:1101:98960060:98970060,SYNTHESIZER:1:REGRESSION:2:1101:76863510:76873510,SYNTHESIZER:1:REGRESSION:3:1101:28939700:28949700,SYNTHESIZER:1:REGRESSION:3:1101:51007750:51017750,SYNTHESIZER:1:REGRESSION:4:1101:35850560:35860560,SYNTHESIZER:1:REGRESSION:4:1101:70218900:70228900

chr3:47002102-chr3:47002085

0.03164556962025317

0.047058823529411764

0.039352196574832465

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

mismappers(1)

CTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GtTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACcCCTGGGTGGAGCTTCCCC

LMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|vgyeeetqnnrsglwnymevteegtnqrplsnqdvg*

SYNTHESIZER:1:REGRESSION:1:1101:11254060:11264060,SYNTHESIZER:1:REGRESSION:1:1101:61702160:61712160,SYNTHESIZER:1:REGRESSION:1:1101:93457540:93467540,SYNTHESIZER:1:REGRESSION:1:1101:47307600:47317600,SYNTHESIZER:1:REGRESSION:2:1101:31989160:31999160,SYNTHESIZER:1:REGRESSION:2:1101:94966600:94976600,SYNTHESIZER:1:REGRESSION:3:1101:66016910:66026910,SYNTHESIZER:1:REGRESSION:4:1101:17435740:17445740,SYNTHESIZER:1:REGRESSION:4:1101:43108670:43118670,SYNTHESIZER:1:REGRESSION:2:1101:57633340:57643340

chr20:58673711-chr20:58691724

0.047619047619047616

0.13253012048192772

0.09007458405048767

False

FAIL

confidence_below_min(low<high)

AC015911.9

SLFN12L

-/-

chr17:35522279

chr17:35480195

exon

CDS/splice-site

deletion/read-through

low

|Putative_DNA-binding_domain(100%)

ENSG00000286030.2

ENSG00000205045.11

ENST00000650652.2

ENST00000628453.3

upstream

downstream

duplicates(1)

ATAGAACAGCCCTGGCAGGGCCAGGACTACTGCACTTGCACTGCCCTTACTTTGAAGCAGAAGCTGGTGAACATGGGGGGCTACACTGGGGAGGTGTGTGTCAGGGCCAAGGTCCTCTGCCTGAGTCCTGAGAGCAGCGCAGAGGC...CTCACAGCCCAGCAGTATGAGATATTCTCCAGAAGCTTCCACAAGAACAGAGAATTGTTTGTCCATGGCTTACCTGGCTTAGGAAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACATTTGTGAAAGTCAGTTTCTGAGGAATTTCATCAG|AAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAATGTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATGAAGGATTGTCAACTGAGAAAACAGCAGAATGAAAATGTCTCACGAGCTG

SYNTHESIZER:1:REGRESSION:1:1101:78524070:78534070,SYNTHESIZER:1:REGRESSION:2:1101:27738030:27748030,SYNTHESIZER:1:REGRESSION:2:1101:31111520:31121520,SYNTHESIZER:1:REGRESSION:2:1101:40998460:41008460,SYNTHESIZER:1:REGRESSION:3:1101:31518490:31528490,SYNTHESIZER:1:REGRESSION:3:1101:34638240:34648240,SYNTHESIZER:1:REGRESSION:3:1101:46348530:46358530,SYNTHESIZER:1:REGRESSION:4:1101:93940630:93950630,SYNTHESIZER:1:REGRESSION:3:1101:88102510:88112510,SYNTHESIZER:1:REGRESSION:1:1101:93117040:93127040

chr17:35522279-chr17:35480195

0.06976744186046512

0.13513513513513514

0.10245128849780014

False

FAIL

confidence_below_min(low<high)

RBM14

RBM4

+/+

chr11:66617057

chr11:66646027

CDS/splice-site

deletion/read-through

229

203

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

CGCGCGCTCGTGGTGGAGATGTCGCGCCCAAGGCCTCTTAATACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GTGGGATGTGTGTGGGCTGAAATTCCGAGCTGCGGTTGTGCATGAGAATACACCCTTCGTGGTACCCCATCTCCGGGACGTTCTCGGCTCTGTGCGTTCAGTCCCTCAGGAACCGTGGACCTTAATTTACCTTGCTAAGTTCAGACCTTCTCTTCCTTTCCTTTCCTTTCCTC

RALVVEMSRPRPLNTWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gGMCVG*

SYNTHESIZER:1:REGRESSION:4:1101:73757450:73767450,SYNTHESIZER:1:REGRESSION:2:1101:40761270:40771270,SYNTHESIZER:1:REGRESSION:3:1101:53680380:53690380,SYNTHESIZER:1:REGRESSION:3:1101:77792060:77802060,SYNTHESIZER:1:REGRESSION:3:1101:93277930:93287930,SYNTHESIZER:1:REGRESSION:2:1101:6399730:6409730

chr11:66617057-chr11:66646027

0.006507592190889371

0.021686746987951807

0.014097169589420588

False

FAIL

confidence_below_min(low<high);total_reads_below_min(6.0<8.0)

RBM14

RBM4

+/+

chr11:66617057

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

229

248

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(11),read_through(33)

ACTTGGAAGATTTTCGTGGGCAATGTGTCGGCTGCATGCACGAGCCAGGAACTGCGCAGCCTCTTCGAGCGCCGCGGACGCGTCATCGAGTGTGACGTGGTGAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAGCTTCATGG

TWKIFVGNVSAACTSQELRSLFERRGRVIECDVVK|gscqdgeavhrkpapggyragdsltlravwegagm*

SYNTHESIZER:1:REGRESSION:1:1101:20255620:20265620,SYNTHESIZER:1:REGRESSION:1:1101:74089670:74099670,SYNTHESIZER:1:REGRESSION:1:1101:82112550:82122550,SYNTHESIZER:1:REGRESSION:1:1101:87384240:87394240,SYNTHESIZER:1:REGRESSION:2:1101:18758020:18768020,SYNTHESIZER:1:REGRESSION:2:1101:33086820:33096820,SYNTHESIZER:1:REGRESSION:2:1101:45060020:45070020,SYNTHESIZER:1:REGRESSION:2:1101:45736750:45746750,SYNTHESIZER:1:REGRESSION:2:1101:69702500:69712500,SYNTHESIZER:1:REGRESSION:2:1101:81535880:81545880,SYNTHESIZER:1:REGRESSION:2:1101:9131950:9141950,SYNTHESIZER:1:REGRESSION:3:1101:84512860:84522860,SYNTHESIZER:1:REGRESSION:3:1101:91136810:91146810,SYNTHESIZER:1:REGRESSION:4:1101:10605730:10615730,SYNTHESIZER:1:REGRESSION:4:1101:72227110:72237110,SYNTHESIZER:1:REGRESSION:4:1101:81295850:81305850,SYNTHESIZER:1:REGRESSION:1:1101:21838310:21848310,SYNTHESIZER:1:REGRESSION:1:1101:37758830:37768830,SYNTHESIZER:1:REGRESSION:1:1101:5573400:5583400,SYNTHESIZER:1:REGRESSION:1:1101:56552360:56562360,SYNTHESIZER:1:REGRESSION:1:1101:91038520:91048520,SYNTHESIZER:1:REGRESSION:1:1101:96008560:96018560,SYNTHESIZER:1:REGRESSION:1:1101:96127970:96137970,SYNTHESIZER:1:REGRESSION:2:1101:11444520:11454520,SYNTHESIZER:1:REGRESSION:2:1101:12206720:12216720,SYNTHESIZER:1:REGRESSION:2:1101:13618480:13628480,SYNTHESIZER:1:REGRESSION:2:1101:15027580:15037580,SYNTHESIZER:1:REGRESSION:2:1101:39621220:39631220,SYNTHESIZER:1:REGRESSION:2:1101:85007160:85017160,SYNTHESIZER:1:REGRESSION:2:1101:91028130:91038130,SYNTHESIZER:1:REGRESSION:3:1101:27620570:27630570,SYNTHESIZER:1:REGRESSION:3:1101:34586440:34596440,SYNTHESIZER:1:REGRESSION:3:1101:6095420:6105420,SYNTHESIZER:1:REGRESSION:3:1101:66133950:66143950,SYNTHESIZER:1:REGRESSION:3:1101:78065240:78075240,SYNTHESIZER:1:REGRESSION:3:1101:87534420:87544420,SYNTHESIZER:1:REGRESSION:3:1101:92041700:92051700,SYNTHESIZER:1:REGRESSION:4:1101:33845260:33855260,SYNTHESIZER:1:REGRESSION:4:1101:34416240:34426240,SYNTHESIZER:1:REGRESSION:4:1101:34705750:34715750,SYNTHESIZER:1:REGRESSION:4:1101:6339770:6349770,SYNTHESIZER:1:REGRESSION:4:1101:82544590:82554590,SYNTHESIZER:1:REGRESSION:4:1101:90098410:90108410,SYNTHESIZER:1:REGRESSION:4:1101:94293330:94303330

chr11:66617057-chr11:66639700

0.0

False

FAIL

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

RBM14

RBM4

+/+

chr11:66625678

chr11:66639700

CDS/splice-site

5'UTR/splice-site

deletion/read-through

101

248

low

out-of-frame

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

ENSG00000239306.5

ENSG00000173933.21

ENST00000310137.5

ENST00000396053.9

downstream

upstream

read_through(1)

CCCCACCCCGGGCCAGCTACGACGATCCCTACAAAAAGGCTGTCGCCATGTCGAAAAG|GCTCTTGTCAGGATGGTGAAGCTGTTCATCGGAAACCTGCCCCGGGAGGCTACAGAGCAGGAGATTCGCTCACTCTTCGAGCAGTATGGGAAGGTGCTGGAATGTGACATCATTAAGAATTACGGCTTTGTGCACATAGAAGACAAGACGGCAGCTGAGGATGCCATACGCAACCTGCACCATTACAAGCTTCATGGGGTGAACATCAACGTGGAA

PPRASYDDPYKKAVAMSKr|llsgw*

SYNTHESIZER:1:REGRESSION:4:1101:24859760:24869760

chr11:66625678-chr11:66639700

0.0

False

FAIL

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

TMED7

TICAM2

-/-

chr5:115616318

chr5:115581315

CDS

5'UTR/splice-site

deletion/read-through

low

stop-codon

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

ENSG00000134970.14

ENSG00000243414.6

ENST00000456936.4

ENST00000427199.3

upstream

downstream

mismappers(1)

TCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGAGGGGCCAACAGGAAAGCAGGAGGGAGCTCAGAGCGTGGAAGAGATGTTTGAAGAAGAAGC

SYNTHESIZER:1:REGRESSION:1:1101:63224580:63234580,SYNTHESIZER:1:REGRESSION:1:1101:97516960:97526960,SYNTHESIZER:1:REGRESSION:4:1101:38842010:38852010

chr5:115616318-chr5:115581315

0.0

0.3333333333333333

0.16666666666666666

False

FAIL

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

TVP23C

CDRT4

-/-

chr17:15503098

chr17:15438200

CDS

CDS/splice-site

deletion/read-through

low

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

GGCCATCCCTCGAGGAAGTTTCATCAG|GACTCACAGAAAACACTGGACTTCCCCGGAAGCTACTTGAAAAACATGACCCCTGGCCGGCCTATGTCACCTATACCTCTCAGACAGTGAAAAGAC

GHPSRKFHQ|dsqktldfpgsylknmtpgrpmspiplrq*

SYNTHESIZER:1:REGRESSION:3:1101:35320060:35330060,SYNTHESIZER:1:REGRESSION:4:1101:84932880:84942880

chr17:15503098-chr17:15438200

0.0

0.2222222222222222

0.1111111111111111

False

FAIL

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

TVP23C

CDRT4

-/-

chr17:15540433

chr17:15440285

CDS/splice-site

5'UTR/splice-site

deletion/read-through

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

GGCGGTGGTTATTATGGGTGTGGTGCTACAAGGTGCCAACCTGTATGGTTACATCAGGTGTAAGGTGCGCAGCAGAAAGCATTTAACCAGCATGGCTACTTCATATTTTGGAAAGCAGTTTTTAAGACAA|GAATCTGAACCTGTGATGTTAAGAAATCAG

AVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQ|esepvmlrn

SYNTHESIZER:1:REGRESSION:1:1101:43706280:43716280

chr17:15540433-chr17:15440285

0.012048192771084338

0.0

0.006024096385542169

False

FAIL

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

SLC34A2

ROS1

+/+

-/-

chr4:25664330

chr6:117324415

CDS/splice-site

translocation

low

in-frame

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

ENSG00000157765.13

ENSG00000047936.11

ENST00000382051.8

ENST00000368507.8

downstream

CAAAGAGACCAACAAAA___CAGATAACACTGAGGCACCTGTAACCAAGATTGAACTTCTGCCGTCCTACTCCACGGCTACACTGATAGATGAGCCCACTGAGGTGGATGACCCCTGGAACCTACCCACTCTTCAGGACTCGGGGATCAAGTG...CAGAGAGAGACACCAAAGGGAAGATTCTCTGTTTCTTCCAAGcGATTGGGAGATTGATTTTACTTCTCGGATTTCTCTACTTTTTCGTGTGCTCCCTGGATATTCTTAGTAGCGCCTTCCAGCTGGTTGGAG|ATGATTTTTGGATACCAG

ERDTKGKILCFFQaIGRLILLLGFLYFFVCSLDILSSAFQLVG|dDFWIP

SYNTHESIZER:1:REGRESSION:4:1101:21104900:21114900

chr4:25664330-chr6:117324415

0.09090909090909091

0.0

0.045454545454545456

False

FAIL

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

30 rows