Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ESR2 0 broad.mit.edu 37 14 64735549 64735549 + Missense_Mutation SNP G G T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr14:64735549G>T ENST00000557772.1 - 3 615 c.616C>A c.(616-618)Ctt>Att p.L206I ESR2_ENST00000554572.1_Missense_Mutation_p.L206I|ESR2_ENST00000553796.1_Missense_Mutation_p.L206I|ESR2_ENST00000542956.1_Missense_Mutation_p.L206I|ESR2_ENST00000358599.5_Missense_Mutation_p.L206I|ESR2_ENST00000353772.3_Missense_Mutation_p.L206I|ESR2_ENST00000341099.4_Missense_Mutation_p.L206I|ESR2_ENST00000555278.1_Missense_Mutation_p.L206I|ESR2_ENST00000357782.2_Missense_Mutation_p.L206I|ESR2_ENST00000267525.6_Missense_Mutation_p.L206I|ESR2_ENST00000555483.1_5'UTR NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 206 cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CACTTCCGAAGTCGGCAGGCC 0.478000 85 481 1.96202e-32 2.21072e-32 1 1 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 10 1325 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140176342 140176342 + Missense_Mutation SNP A A G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:140176342A>G ENST00000526136.1 + 1 1793 c.1793A>G c.(1792-1794)gAc>gGc p.D598G PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598G|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598G NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCAGTGGACGCTGACTCA 0.662000 57 386 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48789965 48789965 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:48789965G>A ENST00000595607.1 + 6 1578 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K ZNF114_ENST00000315849.1_Missense_Mutation_p.E362K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E362K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E328K Q8NC26 ZN114_HUMAN zinc finger protein 114 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) GAAGCCCTACGAATGTGAAGA 0.388000 228 658 0 0 1 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102760426 102760426 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:102760426G>A ENST00000417955.1 - 3 693 c.539C>T c.(538-540)gCg>gTg p.A180V NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 180 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GATAAGGACCGCATCTATTGG 0.463000 6 810 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18562785 18562785 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr18:18562785C>T ENST00000399799.1 - 21 3438 c.2498G>A c.(2497-2499)aGa>aAa p.R833K NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 833 Glu-rich. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TTCATTTCCTCTATACTGTCT 0.333000 52 350 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083776 17083776 + RNA SNP C C A rs56318124 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:17083776C>A ENST00000455405.2 - 0 812 p.R674L(1) CACAGAGACACGCGTGAAGAC 0.537000 10 175 1.10923e-09 1.20733e-09 1 1 0 PARP12 64761 broad.mit.edu 37 7 139756817 139756817 + Missense_Mutation SNP T T A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:139756817T>A ENST00000263549.3 - 3 1472 c.599A>T c.(598-600)gAt>gTt p.D200V NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 200 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) ATTAGAGAAATCATGGGATCT 0.438000 71 477 0 0 1 0 0 NBPF12 149013 broad.mit.edu 37 1 146397441 146397441 + Silent SNP G G C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:146397441G>C ENST00000442909.2 + 6 1094 c.258G>C c.(256-258)ctG>ctC p.L86L NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Silent_p.L86L neuroblastoma breakpoint family, member 12 ovary(2) 2 CAGAGCAGCTGAAACAAGCTG 0.512000 6 1000 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145325997 145325997 + Silent SNP A A G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:145325997A>G ENST00000342960.5 + 30 3905 c.3870A>G c.(3868-3870)caA>caG p.Q1290Q NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1290 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAGTCTTGCAAGACTCACTGG 0.468000 9 656 0 0 1 0 0 CCDC102A 92922 broad.mit.edu 37 16 57559977 57559977 + Silent SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:57559977C>T ENST00000258214.2 - 3 894 c.648G>A c.(646-648)gaG>gaA p.E216E NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 216 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 GGCTGCGCGCCTCCCAGCAGT 0.716000 7 42 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 7 166 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 6 413 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 6 214 0 0 1 0 0 GUSBP11 0 broad.mit.edu 37 22 24002072 24002072 + RNA SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr22:24002072G>A ENST00000417194.1 - 0 3212 CATGAAATCGGCAAAATTCCA 0.443000 6 309 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69403349 69403349 + Silent SNP C C T rs146629248 byFrequency TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr4:69403349C>T ENST00000317746.2 - 6 1629 c.1587G>A c.(1585-1587)agG>agA p.R529R NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 529 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.R529R(2) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 ATAACTAATCCCTTTTCTTCT 0.408000 6 281 0 0 1 0 0 TNNT1 7138 broad.mit.edu 37 19 55653261 55653261 + Silent SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:55653261C>T ENST00000588981.1 - 7 360 c.156G>A c.(154-156)ccG>ccA p.P52P TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000291901.8_Silent_p.P52P|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587758.1_Silent_p.P41P|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000536926.1_Silent_p.P41P|TNNT1_ENST00000356783.5_Silent_p.P41P NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 52 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) GGATCTTTGGCGGGATCAAAG 0.597000 7 854 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 4 97 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 5 242 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68720759 68720759 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:68720759G>A ENST00000303145.7 - 3 262 c.176C>T c.(175-177)cCt>cTt p.P59L MDM1_ENST00000430606.2_Missense_Mutation_p.P59L|MDM1_ENST00000411698.2_Missense_Mutation_p.P59L|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 59 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) GTCATGGTAAGGGACTCTTCT 0.413000 44 297 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148072839 148072839 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:148072839C>T ENST00000370460.2 + 21 4392 c.3913C>T c.(3913-3915)Cgc>Tgc p.R1305C AFF2_ENST00000370457.5_Missense_Mutation_p.R1270C|AFF2_ENST00000286437.5_Missense_Mutation_p.R946C|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272C NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1305 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GTGTTGGCTGCGCATCGATGC 0.542000 112 361 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12516159 12516159 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:12516159G>A ENST00000358136.3 + 66 12569 c.12439G>A c.(12439-12441)Gta>Ata p.V4147I VPS13D_ENST00000543766.1_Missense_Mutation_p.V145I|VPS13D_ENST00000496628.1_Intron|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4122I NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4146 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGAACACCTTGTAGCCGGCAT 0.532000 5 375 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 7 348 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664106 22664106 + RNA SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr22:22664106G>A ENST00000426066.1 + 0 629 NR_027293.1 TGTAGGGAATGTTTAATTCAG 0.398000 7 294 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 11 551 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 8 270 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11007918 11007918 + Silent SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:11007918C>T ENST00000377004.4 - 12 2273 c.2274G>A c.(2272-2274)acG>acA p.T758T C1orf127_ENST00000377008.4_Silent_p.T591T NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 609 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TCAGGGTTTGCGTGGATGGAG 0.672000 15 134 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276064 186276064 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:186276064G>A ENST00000445192.2 + 7 1258 c.1213G>A c.(1213-1215)Gca>Aca p.A405T PRG4_ENST00000367485.4_Missense_Mutation_p.A312T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A364T|PRG4_ENST00000367486.3_Missense_Mutation_p.A362T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 405 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTGCACCCACCAC 0.657000 6 469 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4511859 4511859 + Missense_Mutation SNP T T C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:4511859T>C ENST00000301286.3 - 3 2070 c.2071A>G c.(2071-2073)Atg>Gtg p.M691V NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 691 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 ACTGCCCCCATGAGCCCAGTA 0.592000 9 1933 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46730641 46730641 + Silent SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr13:46730641C>T ENST00000398576.2 - 8 811 c.423G>A c.(421-423)cgG>cgA p.R141R LCP1_ENST00000323076.2_Silent_p.R141R P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 141 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding p.R141R(1) breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GGATGACATGCCGACAATCAG 0.383000 T BCL6 NHL 6 706 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940373 22940373 + Missense_Mutation SNP T T C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:22940373T>C ENST00000397104.3 - 5 2064 c.2065A>G c.(2065-2067)Aag>Gag p.K689E ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E zinc finger protein 99 p.K689E(3) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTTATGTTTTCTA 0.343000 5 381 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47681762 47681762 + Missense_Mutation SNP G G A rs138759912 byFrequency TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:47681762G>A ENST00000525123.1 - 19 2957 c.2672C>T c.(2671-2673)gCg>gTg p.A891V AGBL2_ENST00000357610.3_Missense_Mutation_p.A893V|AGBL2_ENST00000298861.4_Missense_Mutation_p.A891V NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 891 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TGGGTATGCCGCCATGGCAGC 0.507000 42 333 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681963 100681963 + Silent SNP T T C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:100681963T>C ENST00000306151.4 + 3 7330 c.7266T>C c.(7264-7266)gtT>gtC p.V2422V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2422 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTCCTGTTGACACCAGCA 0.512000 11 1808 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22928115 22928115 + RNA SNP T T A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr14:22928115T>A ENST00000514473.2 - 0 225 TRDJ3_ENST00000390476.1_RNA ACAGATGTTTTTCGGAACTGG 0.522000 14 62 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54649652 54649652 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:54649652C>T ENST00000406403.1 + 8 2313 c.710C>T c.(709-711)gCg>gTg p.A237V CNOT3_ENST00000221232.5_Missense_Mutation_p.A237V|CNOT3_ENST00000358389.3_Missense_Mutation_p.A56V O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 237 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ACAGCACAGGCGCTGGTCGCC 0.632000 19 349 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57578958 57578958 + Missense_Mutation SNP A A G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:57578958A>G ENST00000243077.3 + 40 6899 c.6433A>G c.(6433-6435)Atc>Gtc p.I2145V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2145 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCTTAAAGACATCAAAGTCTT 0.627000 38 412 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25953443 25953443 + Silent SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:25953443G>A ENST00000356865.6 - 11 2460 c.2349C>T c.(2347-2349)gaC>gaT p.D783D NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 783 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCCCTCTGGCGTCAACTAGGT 0.502000 44 316 0 0 1 0 0 NPFFR1 64106 broad.mit.edu 37 10 72025941 72025941 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:72025941G>A ENST00000277942.5 - 2 221 c.214C>T c.(214-216)Cgg>Tgg p.R72W NM_022146.4 NP_071429.1 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 72 integral to membrane|plasma membrane neuropeptide receptor activity endometrium(2)|lung(1) 3 TGCATGTGCCGGTTCTTGAGC 0.562000 36 261 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457754 15457754 + Missense_Mutation SNP T T G rs148628178 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:15457754T>G ENST00000360151.4 - 8 814 c.815A>C c.(814-816)tAt>tCt p.Y272S NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 TGGAAGGGGATAGAGCAGACG 0.517000 7 1481 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 5 173 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 5 151 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61611293 61611293 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:61611293C>T ENST00000583023.1 + 5 733 c.722C>T c.(721-723)gCg>gTg p.A241V KCNH6_ENST00000581784.1_Missense_Mutation_p.A241V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A241V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A241V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A241V NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 241 regulation of transcription, DNA-dependent|signal transduction p.A241V(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) AAGCTGCAGGCGCCGCGCATC 0.672000 78 382 0 0 1 0 0 AKT2 208 broad.mit.edu 37 19 40762881 40762881 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:40762881C>T ENST00000392038.2 - 3 425 c.127G>A c.(127-129)Gag>Aag p.E43K AKT2_ENST00000311278.6_Missense_Mutation_p.E43K|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000424901.1_Missense_Mutation_p.E43K NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 43 PH. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) TCAGGGGCCTCGGGCCTCTCC 0.562000 A """ovarian, pancreatic """ 6 330 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183854501 183854501 + Silent SNP T T A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:183854501T>A ENST00000273783.3 + 2 419 c.297T>A c.(295-297)gcT>gcA p.A99A EIF2B5_ENST00000432569.1_Silent_p.A99A|EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Silent_p.A99A NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 99 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCTGGAAAGCTGCTCAAATCA 0.423000 7 900 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 7 497 0.010729 0.0109341 1 1 0 DCAF8 50717 broad.mit.edu 37 1 160213756 160213756 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:160213756C>T ENST00000368073.3 - 3 477 c.43G>A c.(43-45)Gct>Act p.A15T DCAF8_ENST00000556710.1_Missense_Mutation_p.A169T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A15T|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.A15T Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 15 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 TTACCATTAGCTAAGTCTGTT 0.463000 112 771 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19439055 19439055 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:19439055G>A ENST00000375267.2 - 78 11767 c.11764C>T c.(11764-11766)Cgg>Tgg p.R3922W UBR4_ENST00000375254.3_Missense_Mutation_p.R3922W|UBR4_ENST00000375217.2_Missense_Mutation_p.R3915W|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.R3898W Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3922 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACCTCCTCCCGCATGGCCGCA 0.602000 5 401 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114377796 114377796 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:114377796C>T ENST00000545145.2 - 15 1985 c.1907G>A c.(1906-1908)cGc>cAc p.R636H RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 636 RRM 4. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GAAGGCCTTGCGGGCCTCCAG 0.622000 6 351 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 6 524 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 5 83 0 0 1 0 0 C11orf40 143501 broad.mit.edu 37 11 4594586 4594586 + Missense_Mutation SNP A A T rs143067877 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:4594586A>T ENST00000307616.1 - 2 257 c.258T>A c.(256-258)gaT>gaA p.D86E NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 86 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TGTGGCCGTTATCACCCATCA 0.473000 26 381 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102293007 102293007 + RNA SNP C C G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:102293007C>G ENST00000561463.1 + 0 1053 CGCGTGGGAACAAGAAGACAC 0.582000 5 48 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990483 990483 + Silent SNP C C T rs145231691 byFrequency TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:990483C>T ENST00000190165.2 + 2 935 c.897C>T c.(895-897)tcC>tcT p.S299S NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 299 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGCGAACTTCCGCAGAACCTG 0.577000 65 255 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810641 123810641 + Missense_Mutation SNP C C A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:123810641C>A ENST00000307033.2 + 1 392 c.318C>A c.(316-318)ttC>ttA p.F106L NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCTTCCACTTCATTGGAGGCA 0.498000 56 319 7.89702e-26 8.83583e-26 1 1 0 SLC4A5 57835 broad.mit.edu 37 2 74477486 74477486 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr2:74477486G>A ENST00000394019.2 - 17 2034 c.1637C>T c.(1636-1638)gCc>gTc p.A546V SLC4A5_ENST00000377632.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000423644.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A482V|SLC4A5_ENST00000377634.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A546V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A482V NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 546 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATTGTCGGTGGCATCCCCCAG 0.527000 OREG0014716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 439 0 0 1 0 0 SARM1 23098 broad.mit.edu 37 17 26715525 26715525 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:26715525G>A ENST00000457710.3 + 7 2259 c.1788G>A c.(1786-1788)atG>atA p.M596I SARM1_ENST00000379061.4_3'UTR NM_015077.2 NP_055892.2 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 630 TIR. innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) ACAAGTGCATGCAAGACCATG 0.542000 7 900 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 8 475 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678310 65678310 + Silent SNP T T G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:65678310T>G ENST00000352385.2 - 18 3248 c.3039A>C c.(3037-3039)ccA>ccC p.P1013P NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1013 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CATGGGCAGCTGGGGGGCTGG 0.667000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 78 0 0 1 0 0 MAP2K4 6416 broad.mit.edu 37 17 11998898 11998898 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:11998898C>T ENST00000415385.3 + 5 486 c.433C>T c.(433-435)Cgg>Tgg p.R145W MAP2K4_ENST00000353533.5_Missense_Mutation_p.R134W P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 134 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.R134W(2)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) CCAGAGAATTCGGTCAACAGT 0.338000 """D, Mis, N""" """pancreatic, breast, colorectal""" 34 230 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132177680 132177680 + Silent SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:132177680C>T ENST00000374786.1 + 4 1103 c.624C>T c.(622-624)gcC>gcT p.A208A NTM_ENST00000539799.1_Silent_p.A208A|NTM_ENST00000374791.3_Silent_p.A208A|NTM_ENST00000425719.2_Silent_p.A208A|NTM_ENST00000427481.2_Silent_p.A199A|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.A208A NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 208 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 ATGACGTGGCCGCGCCCGTGG 0.582000 26 151 0 0 1 0 0 MAK 4117 broad.mit.edu 37 6 10764813 10764813 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:10764813G>A ENST00000313243.2 - 14 2126 c.1744C>T c.(1744-1746)Cgg>Tgg p.R582W MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.R582W|MAK_ENST00000354489.2_Missense_Mutation_p.R582W|RP11-637O19.3_ENST00000480294.1_Intron P20794 MAK_HUMAN male germ cell-associated kinase 582 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity p.R582R(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) AACTGCCCCCGACCAGTTTTT 0.398000 87 510 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62893346 62893346 + Silent SNP C C A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:62893346C>A ENST00000584306.1 - 3 560 c.30G>T c.(28-30)gcG>gcT p.A10A LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.A10A|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584131.1_RNA NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 10 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ACATGACACACGCTAGTGCCG 0.572000 10 910 2.17888e-05 2.26377e-05 1 1 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 9 264 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124339199 124339199 + Missense_Mutation SNP A A G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:124339199A>G ENST00000368909.3 + 10 891 c.785A>G c.(784-786)tAc>tGc p.Y262C DMBT1_ENST00000344338.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y262C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.Y262C|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000338354.3_Missense_Mutation_p.Y262C NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 262 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTGATGACTACTGGGACACC 0.617000 12 1981 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125539748 125539748 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:125539748G>A ENST00000241305.3 - 7 1067 c.913C>T c.(913-915)Cgg>Tgg p.R305W CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 305 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) ATCTCGTTCCGGCGGTGATAA 0.448000 59 547 0 0 1 0 0 CDYL 9425 broad.mit.edu 37 6 4892101 4892101 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:4892101C>T ENST00000328908.5 + 4 472 c.341C>T c.(340-342)aCg>aTg p.T114M CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.T60M|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 114 Chromo. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AGACGCCACACGGAGAAGCAG 0.507000 5 256 0 0 1 0 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864178 31864178 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr21:31864178C>T ENST00000334063.4 - 1 97 c.98G>A c.(97-99)cGc>cAc p.R33H NM_181609.3 NP_853640.1 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 33 intermediate filament large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 9 ACCCAGTCTGCGGAAGCTGCC 0.582000 141 966 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 6 419 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 6 494 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55172659 55172659 + Missense_Mutation SNP A A G rs5018687 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:55172659A>G ENST00000425133.2 - 3 247 c.209T>C c.(208-210)aTt>aCt p.I70T FAM104B_ENST00000358460.4_Missense_Mutation_p.I69T|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 69 p.I70T(2) endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 TTCAGTAACAATCTGGTTTAA 0.458000 6 285 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64566932 64566932 + Silent SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:64566932G>A ENST00000294066.2 - 14 1105 c.1014C>T c.(1012-1014)ggC>ggT p.G338G MAP4K2_ENST00000377350.3_Silent_p.G338G NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 338 activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 TGCGTGGGGCGCCAAATTTCA 0.597000 7 392 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326017 152326017 + Missense_Mutation SNP C C A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:152326017C>A ENST00000388718.5 - 3 4317 c.4245G>T c.(4243-4245)agG>agT p.R1415S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1415 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCAGTTGTCCTGGACCCTC 0.527000 9 1229 2.80697e-09 3.03457e-09 1 1 0 CACNA1H 8912 broad.mit.edu 37 16 1260913 1260913 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:1260913G>A ENST00000348261.5 + 21 4413 c.4165G>A c.(4165-4167)Gcc>Acc p.A1389T CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1389T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1389T NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1389 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGCTGGTGGCGCCAAGATCCT 0.687000 7 697 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 7 66 0.0167234 0.0169351 1 1 0 CDC27 996 broad.mit.edu 37 17 45219271 45219271 + Nonsense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:45219271C>T ENST00000066544.3 - 12 1592 c.1499G>A c.(1498-1500)tGg>tAg p.W500* CDC27_ENST00000446365.2_Nonsense_Mutation_p.W439*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.W506*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.W499* NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 500 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GCACAGTACCCAACCAGTATT 0.358000 9 908 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334112 39334112 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:39334112C>T ENST00000377726.2 - 1 348 c.305G>A c.(304-306)cGc>cAc p.R102H NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 102 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament p.R102H(1) kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGCTGGGGCGGCAGCAGGT 0.657000 78 426 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33068870 33068870 + Silent SNP G G A rs113018466 byFrequency TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:33068870G>A ENST00000397149.3 - 4 503 c.453C>T c.(451-453)ggC>ggT p.G151G SMU1_ENST00000536631.1_5'UTR NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 151 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CACTGACTTCGCCAGCTAAGG 0.507000 4 193 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 9 231 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806606 21806606 + Missense_Mutation SNP T T G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:21806606T>G ENST00000318220.6 + 14 2151 c.1103T>G c.(1102-1104)tTt>tGt p.F368C NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 424 NBPF 2. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTGGATAGATTTTATTCAACT 0.468000 6 90 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 6 212 1 1 1 1 0 KIF1A 547 broad.mit.edu 37 2 241712602 241712602 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr2:241712602C>T ENST00000498729.2 - 13 1355 c.1109G>A c.(1108-1110)cGc>cAc p.R370H KIF1A_ENST00000320389.7_Missense_Mutation_p.R370H NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 370 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTTCAGCTCGCGGATCAGCTT 0.617000 39 216 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102509562 102509562 + Splice_Site SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:102509562G>A ENST00000321521.9 + 21 2988 c.2414_splice c.e21-1 p.V805_splice PPIP5K2_ENST00000358359.3_Splice_Site_p.V805_splice|PPIP5K2_ENST00000414217.1_Splice_Site_p.V805_splice|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 805 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CTAATTTTAGGTATTCTAGAG 0.303000 36 214 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34663823 34663823 + Silent SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:34663823G>A ENST00000374789.3 - 11 1972 c.1647C>T c.(1645-1647)gaC>gaT p.D549D PARD3_ENST00000374773.1_Silent_p.D549D|PARD3_ENST00000346874.4_Silent_p.D549D|PARD3_ENST00000374776.1_Silent_p.D549D|PARD3_ENST00000545693.1_Silent_p.D549D|PARD3_ENST00000545260.1_Silent_p.D505D|PARD3_ENST00000350537.4_Silent_p.D549D|PARD3_ENST00000544292.1_Silent_p.D279D|PARD3_ENST00000374794.3_Silent_p.D505D|PARD3_ENST00000374788.3_Silent_p.D549D|PARD3_ENST00000374790.3_Silent_p.D505D|PARD3_ENST00000340077.5_Silent_p.D549D NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 549 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GGTGGAAGGCGTCTTCCTGGC 0.478000 137 785 0 0 1 0 0 CYP21A1P 0 broad.mit.edu 37 6 31975463 31975463 + RNA SNP T T C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:31975463T>C ENST00000342991.6 + 0 1386 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GCAGCGACTGTAGGAGGAGCT 0.657000 3 51 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855284 53855284 + Silent SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:53855284G>A ENST00000458035.1 + 4 1473 c.1356G>A c.(1354-1356)tcG>tcA p.S452S ZNF845_ENST00000595091.1_Silent_p.S452S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S452S(2) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCGAACCTTGAAA 0.398000 8 487 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 245 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10254528 10254528 + Silent SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:10254528G>A ENST00000340748.4 - 28 3217 c.2982C>T c.(2980-2982)ggC>ggT p.G994G DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Silent_p.G994G|DNMT1_ENST00000359526.4_Silent_p.G1010G P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 994 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CTTTGATCCGGCCAATTCGGT 0.542000 8 1289 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43540277 43540277 + Missense_Mutation SNP T T C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:43540277T>C ENST00000265351.7 - 3 476 c.266A>G c.(265-267)tAt>tGt p.Y89C NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 89 Necessary for interaction with Ran. gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GTTCTTCAGATACACCTTCTC 0.423000 8 339 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31373160 31373160 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:31373160C>T ENST00000268296.4 + 10 1137 c.1016C>T c.(1015-1017)aCg>aTg p.T339M ITGAX_ENST00000562522.1_Missense_Mutation_p.T339M NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 339 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCCCCAGGTACGGAGACCACA 0.572000 6 648 0 0 1 0 0 KLF15 28999 broad.mit.edu 37 3 126070729 126070729 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:126070729G>A ENST00000296233.3 - 2 1267 c.1037C>T c.(1036-1038)aCg>aTg p.T346M NM_014079.3 NP_054798.1 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 346 nucleus DNA binding|zinc ion binding endometrium(1)|lung(7)|ovary(2)|skin(2) 12 GBM - Glioblastoma multiforme(114;0.147) CTTCTCACCCGTGTGCCGGCG 0.592000 5 116 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10471951 10471951 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr18:10471951C>T ENST00000355285.4 + 3 1021 c.667C>T c.(667-669)Ctc>Ttc p.L223F APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 223 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) TCACCACAACCTCGACCACCT 0.572000 123 568 0 0 1 0 0 DMRT2 10655 broad.mit.edu 37 9 1056404 1056404 + Missense_Mutation SNP C C G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:1056404C>G ENST00000382251.3 + 5 1146 c.817C>G c.(817-819)Cgc>Ggc p.R273G DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R273G|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.R273G Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 273 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) TCTGCCCAACCGCATGGTGCC 0.473000 5 405 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 5 182 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 7 202 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 8 367 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 26026228 26026228 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:26026228C>T ENST00000356865.6 - 2 703 c.592G>A c.(592-594)Gcc>Acc p.A198T NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 198 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCCAGGTTGGCGGTCTCGATG 0.602000 43 343 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 6 133 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 7 205 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189582120 189582120 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:189582120G>A ENST00000264731.3 + 5 768 c.679G>A c.(679-681)Gcc>Acc p.A227T TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 227 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGTTATCCGCGCCATGCCTGT 0.517000 HNSCC(45;0.13) 5 489 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42882797 42882797 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:42882797G>A ENST00000426548.1 - 3 658 c.389C>T c.(388-390)aCg>aTg p.T130M GJC1_ENST00000330514.4_Missense_Mutation_p.T130M|GJC1_ENST00000592524.1_Missense_Mutation_p.T130M|GJC1_ENST00000590758.1_Missense_Mutation_p.T130M NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 130 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) GTCCTCCTCCGTTTCTTCCAG 0.483000 78 512 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102822797 102822797 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:102822797C>T ENST00000260302.3 - 5 771 c.743G>A c.(742-744)gGc>gAc p.G248D MMP13_ENST00000340273.4_Missense_Mutation_p.G248D NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 248 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.G248D(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTGGCTTTTGCCGGTGTAGGT 0.448000 9 955 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244574656 244574656 + Silent SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:244574656C>T ENST00000366535.3 - 12 1567 c.1251G>A c.(1249-1251)gcG>gcA p.A417A NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 417 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) GTTCTTTAAACGCCCTTGCAT 0.333000 65 335 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 16 181 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 8 190 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 5 283 8.12818e-05 8.3366e-05 1 1 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 5 179 5.9392e-07 6.21093e-07 1 1 0 RAD17 5884 broad.mit.edu 37 5 68692367 68692367 + Missense_Mutation SNP T T A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:68692367T>A ENST00000509734.1 + 15 2277 c.1599T>A c.(1597-1599)aaT>aaA p.N533K RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 533 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTAATAAATAAAAAGGTAA 0.338000 Other conserved DNA damage response genes 12 58 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64375284 64375284 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:64375284G>A ENST00000265459.6 - 23 4984 c.4523C>T c.(4522-4524)aCg>aTg p.T1508M NRXN2_ENST00000377559.3_Missense_Mutation_p.T1438M|NRXN2_ENST00000377551.1_Missense_Mutation_p.T1508M|NRXN2_ENST00000301894.2_Missense_Mutation_p.T462M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1501M NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1508 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CTCGTCGTCCGTGGGGGGGAG 0.687000 6 47 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48581229 48581229 + Nonsense_Mutation SNP C C A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr18:48581229C>A ENST00000342988.3 + 5 1071 c.533C>A c.(532-534)tCa>tAa p.S178* RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 178 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(3) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GAAGGACATTCAATTCAAACC 0.438000 67 331 8.83742e-36 1.00283e-35 1 1 0 KDM6A 7403 broad.mit.edu 37 X 44833922 44833922 + Missense_Mutation SNP T T C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:44833922T>C ENST00000377967.4 + 4 387 c.346T>C c.(346-348)Tac>Cac p.Y116H KDM6A_ENST00000543216.1_Missense_Mutation_p.Y116H|KDM6A_ENST00000382899.4_Missense_Mutation_p.Y116H|KDM6A_ENST00000536777.1_Missense_Mutation_p.Y116H NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 116 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(14)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ATTATCTGCATACCAGAGGTA 0.348000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 4 230 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78423616 78423616 + Missense_Mutation SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:78423616G>A ENST00000278550.7 - 26 4427 c.3965C>T c.(3964-3966)gCg>gTg p.A1322V NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 ACCTGTCCCCGCAACCACCTC 0.577000 7 670 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58120468 58120468 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:58120468C>T ENST00000357272.4 + 27 4805 c.4640C>T c.(4639-4641)gCc>gTc p.A1547V FLNB_ENST00000348383.5_Missense_Mutation_p.A1547V|FLNB_ENST00000295956.4_Missense_Mutation_p.A1547V|FLNB_ENST00000419752.2_Missense_Mutation_p.A1378V|FLNB_ENST00000493452.1_Missense_Mutation_p.A1378V|FLNB_ENST00000490882.1_Missense_Mutation_p.A1578V|FLNB_ENST00000429972.2_Missense_Mutation_p.A1547V|FLNB_ENST00000358537.3_Missense_Mutation_p.A1547V O75369 FLNB_HUMAN filamin B, beta 1547 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GCCCGAGATGCCGGGGAAGGC 0.483000 6 701 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 4 118 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124412927 124412927 + Missense_Mutation SNP C C A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:124412927C>A ENST00000306842.2 - 1 648 c.624G>T c.(622-624)atG>atT p.M208I NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TGACAATGGGCATTCCAACGT 0.453000 24 147 2.89027e-11 3.16742e-11 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 6 205 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195391115 195391115 + RNA SNP T T C rs28401477 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:195391115T>C ENST00000445430.1 + 0 641 ACACCTTATATGGGAGGGTAA 0.597000 6 159 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37307495 37307495 + Missense_Mutation SNP C C T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:37307495C>T ENST00000373091.3 - 10 1388 c.1372G>A c.(1372-1374)Ggg>Agg p.G458R GRIK3_ENST00000373093.4_Missense_Mutation_p.G458R NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 458 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGGTCATTCCCGTATAGCGTC 0.572000 80 603 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 9 353 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 8 966 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 13 791 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 11 1284 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 12 404 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 9 459 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 8 779 --- --- --- --- AGBL5 60509 broad.mit.edu 37 2 27278900 27278901 + Frame_Shift_Ins INS - - C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr2:27278900_27278901insC ENST00000360131.4 + 7 1418_1419 c.1259_1260insC c.(1258-1260)accfs p.T420fs AGBL5_ENST00000323064.8_Frame_Shift_Ins_p.T420fs NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 420 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGATACCATCCCCCCCAAAG 0.515 7 1300 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 11 156 --- --- --- --- TEKT4 150483 broad.mit.edu 37 2 95539829 95539830 + Frame_Shift_Ins INS - - G rs149873671 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr2:95539829_95539830insG ENST00000295201.4 + 3 826_827 c.689_690insG c.(688-690)ctafs p.L230fs AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 230 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.P230P(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CAGGCTCATCCGTACTCCACCA 0.663 8 419 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 404 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 7 701 --- --- --- --- GPX1 2876 broad.mit.edu 37 3 49395674 49395676 + In_Frame_Del DEL GCC GCC - rs56041243 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:49395674_49395676delGCC ENST00000419783.1 - 1 357_359 c.36_38delGGC c.(34-39)gcc>gc p.AA12del GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 12 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding p.A12_A13delAA(1) breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CACCGACTGGgccgccgccgccg 0.690 4 8 --- --- --- --- CACNA2D2 9254 broad.mit.edu 37 3 50418559 50418560 + Splice_Site INS - - G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:50418559_50418560insG ENST00000435965.1 - 7 826 c.e7-2 CACNA2D2_ENST00000479441.1_Splice_Site|CACNA2D2_ENST00000424201.2_Splice_Site|CACNA2D2_ENST00000395083.1_Splice_Site|CACNA2D2_ENST00000360963.3_Splice_Site|CACNA2D2_ENST00000423994.2_Splice_Site|CACNA2D2_ENST00000429770.1_Splice_Site|CACNA2D2_ENST00000266039.3_Splice_Site Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGACAGTGGCTGGGGGGAAGCG 0.599 8 734 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 521 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:99568273delT ENST00000331335.5 - 5 2717 c.2247delA c.(2245-2247)aafs p.K749fs FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K749fs|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 749 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GTTGATTTAGTTTTTTTTGCA 0.403 7 594 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 8 1009 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 14 495 --- --- --- --- ATP13A4 84239 broad.mit.edu 37 3 193130095 193130096 + Frame_Shift_Ins INS - - T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr3:193130095_193130096insT ENST00000342695.4 - 27 3401_3402 c.3079_3080insA c.(3079-3081)ggafs p.G1027fs ATP13A4_ENST00000392443.3_Frame_Shift_Ins_p.G1008fs|ATP13A4_ENST00000400270.2_Frame_Shift_Ins_p.G43fs|ATP13A4_ENST00000482964.1_5'UTR NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1027 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATTACTTTCCATTTTTTCTGGA 0.391 70 1083 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 8 869 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr4:39462464delA ENST00000261434.3 + 2 218 c.100delA c.(100-102)aafs p.K36fs LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 36 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CTTGCCAGATAAAAAAAAGGA 0.393 11 839 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 17 722 --- --- --- --- OCIAD2 132299 broad.mit.edu 37 4 48894833 48894833 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr4:48894833delA ENST00000508632.1 - 6 571 c.339delT c.(337-339)ttfs p.F113fs OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron NM_001014446.1 NP_001014446.1 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 113 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 GCTGATCTTCAAAAAAATGGA 0.393 7 1297 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 300 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 7 355 --- --- --- --- ZFP42 132625 broad.mit.edu 37 4 188924331 188924331 + Frame_Shift_Del DEL A A - rs141008020 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr4:188924331delA ENST00000326866.4 + 4 778 c.370delA c.(370-372)aafs p.K125fs ZFP42_ENST00000509524.1_Frame_Shift_Del_p.K125fs NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 125 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGAATACATGAAAAAAGGGGT 0.403 7 797 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 9 1183 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 12 1125 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 7 1154 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 8 252 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 9 1064 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 11 1424 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 7 443 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 19 626 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 11 306 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521769 32521771 + RNA DEL ATT ATT - rs77824792 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:32521769_32521771delATT ENST00000411500.1 - 0 740 NR_001298.1 AGGTTTAGTGATTTTTATTCCAA 0.429 10 32 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 8 401 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269188 44269189 + Frame_Shift_Ins INS - - T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:44269188_44269189insT ENST00000244571.4 - 20 2613_2614 c.2611_2612insA c.(2611-2613)tcafs p.S871fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 871 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGCTCCTGAGTTTTCTTTGCA 0.584 7 611 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 17 415 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 8 419 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcg>tc p.SS13del MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 13 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 8 128 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:65150713_65150714insA ENST00000430126.2 + 0 694_695 CATACCATGAGAAAATCTCTAA 0.436 13 147 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 15 562 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595446 82595447 + Frame_Shift_Ins INS - - T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:82595446_82595447insT ENST00000423517.2 - 4 3994_3995 c.3657_3658insA c.(3655-3660)aataatfs p.NN1219fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1158 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCAGGGATTAGTTTTTTTTCTT 0.386 7 954 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcagcaacagcagcagcagc 0.507 9 273 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 8 408 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 8 661 --- --- --- --- GTF2E2 2961 broad.mit.edu 37 8 30511012 30511014 + In_Frame_Del DEL GAT GAT - rs113662547 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:30511012_30511014delGAT ENST00000355904.4 - 2 384_386 c.102_104delATC c.(100-105)tcg>tc p.SS34del NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 34 Poly-Ser. regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CTTCTTTGACGATGATGATGATG 0.384 7 576 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 7 778 --- --- --- --- ASPH 444 broad.mit.edu 37 8 62588724 62588726 + In_Frame_Del DEL TTC TTC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:62588724_62588726delTTC ENST00000379449.6 - 5 694_696 c.520_522delGAA c.(520-522)del p.E174del ASPH_ENST00000517903.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000356457.5_Intron NM_001164756.1 NP_001158228.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 0 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CGGTTTCGCTTTCTTCTTCTTCT 0.369 9 300 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494020 65494021 + In_Frame_Ins INS - - GCA rs34265378 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:65494020_65494021insGCA ENST00000321870.1 + 1 1207_1208 c.673_674insGCA c.(673-675)cag>GCAcag p.224_225insA RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 224 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S234delS(1) NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 cggcagcggcggcagcagcagc 0.718 15 26 --- --- --- --- RBM12B 389677 broad.mit.edu 37 8 94747495 94747496 + Frame_Shift_Del DEL TA TA - rs111589624 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:94747495_94747496delTA ENST00000399300.2 - 3 1356_1357 c.1143_1144delTA c.(1141-1146)gaggfs p.DR381fs RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.DR381fs NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 381 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TGTCCGGGCCTATCTCTCTCTA 0.361 9 751 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 8 1079 --- --- --- --- OXR1 55074 broad.mit.edu 37 8 107704955 107704955 + Splice_Site DEL G G - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:107704955delG ENST00000445937.1 + 7 786 c.e7-1 OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000497705.1_Splice_Site NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AAAAAAAAAAGAATCCTGATG 0.348 8 208 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140521 124140521 + Splice_Site DEL T T - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr8:124140521delT ENST00000287380.1 + 14 1975 c.1884_splice c.e14-1 p.F631_splice TBC1D31_ENST00000378080.2_Splice_Site_p.F526_splice|TBC1D31_ENST00000309336.3_Splice_Site_p.F631_splice|TBC1D31_ENST00000521676.1_Splice_Site_p.F508_splice|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000522420.1_Splice_Site_p.F526_splice|TBC1D31_ENST00000327098.5_Splice_Site_p.F631_splice NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTCTTACAGTTTTTTTTTCA 0.323 8 333 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 8 437 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 7 978 --- --- --- --- ZNF367 195828 broad.mit.edu 37 9 99180258 99180259 + In_Frame_Ins INS - - GGC TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:99180258_99180259insGGC ENST00000375256.4 - 1 352_353 c.56_57insGCC c.(55-57)cgt>cGCCgt p.19_19R>RR NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 19 Pro-rich. regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) AGAAGATGACGggcggcggcgg 0.752 10 40 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 11 184 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 8 276 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 9 21 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673298 75673298 + Splice_Site DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:75673298delA ENST00000446342.1 + 6 893 c.409_splice c.e6-1 p.G137_splice PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 154 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCCTCCAGGAAAAAAGCCCT 0.517 7 1941 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88753099 88753100 + RNA INS - - T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:88753099_88753100insT ENST00000444431.1 + 0 64 RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATGAGTTTACTTTTTTTTTTA 0.307 12 140 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:101559000delA ENST00000370449.4 + 8 1017 c.904delA c.(904-906)aafs p.K303fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 303 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGGGACCAAAAAAGATGT 0.403 8 996 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 7 721 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 9 785 --- --- --- --- TBC1D10C 374403 broad.mit.edu 37 11 67177148 67177149 + Frame_Shift_Ins INS - - G TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:67177148_67177149insG ENST00000312390.5 + 10 1293_1294 c.1264_1265insG c.(1264-1266)ggcfs p.G422fs TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G422fs NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 422 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCTCCTGACTCGGGCCCGGGGC 0.698 9 95 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752495 129752496 + Frame_Shift_Ins INS - - T rs149369172 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr11:129752495_129752496insT ENST00000446488.3 - 9 1035_1036 c.932_933insA c.(931-933)agtfs p.S311fs NFRKB_ENST00000304521.5_Frame_Shift_Ins_p.S311fs|NFRKB_ENST00000524794.1_Frame_Shift_Ins_p.S336fs|NFRKB_ENST00000524746.1_Frame_Shift_Ins_p.S311fs NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 311 Lys-rich. DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTTCCTTAACCTTTTTTTTAAG 0.441 7 517 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 12 651 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 8 556 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 7 428 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 7 634 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 7 655 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382975.4_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 9 395 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 10 300 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 16 971 --- --- --- --- LRCH1 23143 broad.mit.edu 37 13 47243183 47243186 + Frame_Shift_Del DEL CCTG CCTG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr13:47243183_47243186delCCTG ENST00000311191.6 + 3 700_703 c.471_474delCCTG c.(469-474)gcfs p.AL157fs LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 157 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCTGTCCGCCCTGCCTGCCTGCC 0.436 8 850 --- --- --- --- RNASEH2B 79621 broad.mit.edu 37 13 51530587 51530587 + Frame_Shift_Del DEL A A - rs75254367 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr13:51530587delA ENST00000336617.3 + 11 1315 c.916delA c.(916-918)aafs p.K308fs RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 308 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) GGTAAAAAATAAAAAAAAAAT 0.299 9 240 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 7 619 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782216 35782216 + Frame_Shift_Del DEL A A - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr14:35782216delA ENST00000261479.4 + 5 659 c.539delA c.(538-540)gafs p.E180fs PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|KIAA0391_ENST00000557565.1_3'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AGCTTCCTTGAAAAAAAAGTG 0.403 8 915 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 8 147 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93720047 93720048 + Frame_Shift_Ins INS - - T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr14:93720047_93720048insT ENST00000334746.5 - 7 2004_2005 c.1697_1698insA c.(1696-1698)agcfs p.S566fs BTBD7_ENST00000393170.2_Frame_Shift_Ins_p.S140fs|BTBD7_ENST00000554565.1_Frame_Shift_Ins_p.S215fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 566 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGATGCCAGCATTTTTTTGCCG 0.386 7 599 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 604 --- --- --- --- BEGAIN 57596 broad.mit.edu 37 14 101005271 101005273 + In_Frame_Del DEL CCT CCT - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr14:101005271_101005273delCCT ENST00000556751.1 - 5 4027_4029 c.623_625delAGG c.(622-627)gcc>g p.EA210del BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 274 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GCCGCCTCGGCCTCCTCCTCCTC 0.724 7 114 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709778 22709779 + RNA DEL TC TC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:22709778_22709779delTC ENST00000314246.8 - 0 1069 CATGCTACCATCTCTCTCTCTG 0.535 8 655 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 8 66 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 9 831 --- --- --- --- PLA2G4E 123745 broad.mit.edu 37 15 42302330 42302331 + Frame_Shift_Ins INS - - C rs72237204 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr15:42302330_42302331insC ENST00000413860.2 - 1 114_115 c.115_116insG c.(115-117)cagfs p.Q39fs PLA2G4E_ENST00000399518.3_Intron Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 0 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CAGAACACTGGCCCCCCCACCC 0.594 7 123 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 563 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 11 411 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 8 603 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 71220807 71220808 + Frame_Shift_Ins INS - - T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr16:71220807_71220808insT ENST00000538248.1 - 2 106_107 c.72_73insA c.(70-75)aatactfs p.NT24fs HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000448691.1_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Ins_p.NT14fs|HYDIN_ENST00000541601.1_Frame_Shift_Ins_p.NT14fs|HYDIN_ENST00000448089.2_5'UTR NM_001198542.1 NP_001185471.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATTTTTAGTAATTTTTTTTTCT 0.337 7 398 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G G - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:7577558delG ENST00000420246.2 - 7 855 c.723delC c.(721-723)tcfs p.S241fs TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCCCATGCAGGAACTGTTAC 0.577 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 39 273 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 13 1158 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 14 1032 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 12 784 --- --- --- --- ZNF793 390927 broad.mit.edu 37 19 38028414 38028415 + Frame_Shift_Ins INS - - T TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:38028414_38028415insT ENST00000445217.1 + 4 889_890 c.854_855insT c.(853-855)tttfs p.F285fs ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Frame_Shift_Ins_p.F285fs|ZNF793_ENST00000542455.1_Frame_Shift_Ins_p.F285fs Q6ZN11 ZN793_HUMAN zinc finger protein 793 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C288fs*113(1) kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCTTTGAATGTTTTTTTTGTG 0.465 8 235 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 11 131 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 8 97 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 13 742 --- --- --- --- PRKD2 25865 broad.mit.edu 37 19 47201092 47201093 + Frame_Shift_Ins INS - - ATGTA TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr19:47201092_47201093insATGTA ENST00000433867.1 - 9 1613_1614 c.1136_1137insTACAT c.(1135-1137)accfs p.T379fs PRKD2_ENST00000601806.1_Frame_Shift_Ins_p.T222fs|PRKD2_ENST00000600194.1_Frame_Shift_Ins_p.T222fs|PRKD2_ENST00000595515.1_Frame_Shift_Ins_p.T379fs|PRKD2_ENST00000291281.4_Frame_Shift_Ins_p.T379fs NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 379 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) TCATTAGGGGGATGTACCCCAG 0.574 10 645 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37137766 37137766 + Frame_Shift_Del DEL C C - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr20:37137766delC ENST00000262879.6 + 6 1071 c.787delC c.(787-789)ccfs p.P263fs RALGAPB_ENST00000537204.1_Frame_Shift_Del_p.P263fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.P263fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.P41fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.P263fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 263 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ATTTAAAGTTCCCGATGAAGA 0.363 10 667 --- --- --- --- HNF4A 3172 broad.mit.edu 37 20 43052773 43052775 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr20:43052773_43052775delGCT ENST00000316099.3 + 8 1097_1099 c.1008_1010delGCT c.(1006-1011)gag>ga p.EL336del HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del|HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 336 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCTTTGGAGAGCTGCTGCTGCTG 0.576 7 133 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 8 514 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 8 373 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 7 17 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1463 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ctcctcctcttcctcctcctcct 0.389 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 309 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928153 92928155 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:92928153_92928155delTGC ENST00000373079.3 - 1 412_414 c.149_151delGCA c.(148-153)act>a p.ST50del NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 50 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ctgccactagtgctgctgctgct 0.586 10 109 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-FB-AAPY-01A-11D-A40W-08 TCGA-FB-AAPY-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5708a05-d6ea-45e7-95b3-396cb55160cb 1df543cd-3c9f-4509-bcee-0ce063aa435c g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 11 873 --- --- --- ---