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 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 5 58 0 0 0.000602214 0 0 COL6A2 0 broad.mit.edu 37 21 47549370 47549370 + Missense_Mutation SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr21:47549370G>A ENST00000357838.4 + 28 2804 c.2722G>A c.(2722-2724)Gtg>Atg p.V908M COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Missense_Mutation_p.V908M|COL6A2_ENST00000310645.5_3'UTR NM_058174.2 NP_478054.2 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 0 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CAGGGACATCGTGGGGGACCC 0.687000 8 18 0 0 0.000274275 0 0 NPAP1 23742 broad.mit.edu 37 15 24924397 24924397 + Missense_Mutation SNP G G C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr15:24924397G>C ENST00000329468.2 + 1 3857 c.3383G>C c.(3382-3384)tGg>tCg p.W1128S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAGCACACATGGACAGAGAGA 0.478000 44 77 0 0 0.000781405 0 0 UBE2B 7320 broad.mit.edu 37 5 133725924 133725924 + Silent SNP G G T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr5:133725924G>T ENST00000265339.2 + 6 756 c.339G>T c.(337-339)ctG>ctT p.L113L UBE2B_ENST00000511807.1_3'UTR NM_003337.2 NP_003328.1 P63146 UBE2B_HUMAN ubiquitin-conjugating enzyme E2B 113 canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV cytoplasm|plasma membrane|replication fork ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity kidney(1)|large_intestine(2)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGTCTCTGCTGGATGAACCGA 0.388000 Rad6 pathway 4 38 0.000602214 0.00686244 0.000602214 1 0 SH2B3 10019 broad.mit.edu 37 12 111885211 111885211 + Missense_Mutation SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr12:111885211G>A ENST00000341259.2 + 6 1456 c.1099G>A c.(1099-1101)Ggc>Agc p.G367S SH2B3_ENST00000538307.1_Missense_Mutation_p.G165S NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 367 SH2. blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 CTGGTTCCACGGCCCCATCTC 0.622000 23 52 0 0 0.000295444 0 0 COBLL1 22837 broad.mit.edu 37 2 165579003 165579003 + Missense_Mutation SNP T T C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr2:165579003T>C ENST00000375458.2 - 5 912 c.691A>G c.(691-693)Att>Gtt p.I231V COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000409184.3_Missense_Mutation_p.I269V|COBLL1_ENST00000392717.2_Missense_Mutation_p.I269V|COBLL1_ENST00000342193.4_Missense_Mutation_p.I231V|COBLL1_ENST00000194871.6_Missense_Mutation_p.I297V NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 269 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TCCTTCATAATATCTAGGTTT 0.313000 27 25 0 0 0.000339439 0 0 MAGI2 9863 broad.mit.edu 37 7 77998517 77998517 + Silent SNP G G C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr7:77998517G>C ENST00000354212.4 - 7 1312 c.1059C>G c.(1057-1059)ggC>ggG p.G353G MAGI2_ENST00000535697.1_Silent_p.G190G|MAGI2_ENST00000536571.1_Silent_p.G185G|MAGI2_ENST00000419488.1_Silent_p.G353G|MAGI2_ENST00000522391.1_Silent_p.G353G NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 353 Interaction with DDN.|WW 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TTTTTTCCCAGCCATATGGAA 0.274000 13 38 0 0 0.000219431 0 0 CIC 23152 broad.mit.edu 37 19 42791815 42791815 + Missense_Mutation SNP T T A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr19:42791815T>A ENST00000572681.2 + 6 3496 c.3428T>A c.(3427-3429)cTg>cAg p.L1143Q CIC_ENST00000160740.3_Missense_Mutation_p.L234Q|CIC_ENST00000575354.2_Missense_Mutation_p.L234Q Q96RK0 CIC_HUMAN capicua transcriptional repressor 234 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.I233_L234>M(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AGCAAGATCCTGGGCGAGTGG 0.617000 """Mis, F, S""" oligodendroglioma 20 10 0 0 0.000295444 0 0 CABLES1 91768 broad.mit.edu 37 18 20837289 20837289 + Silent SNP C C T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr18:20837289C>T ENST00000256925.7 + 10 1860 c.1860C>T c.(1858-1860)caC>caT p.H620H RP11-17J14.2_ENST00000585184.1_RNA|CABLES1_ENST00000420687.2_Silent_p.H355H|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Silent_p.H293H|TMEM241_ENST00000450466.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 620 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) TGCCCGAGCACGAAGTCATGC 0.557000 8 36 0 0 0.000442599 0 0 TLR7 51284 broad.mit.edu 37 X 12904193 12904193 + Missense_Mutation SNP G G C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chrX:12904193G>C ENST00000380659.3 + 3 705 c.566G>C c.(565-567)tGt>tCt p.C189S NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 189 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) CGAAATCCTTGTTATGTTTCA 0.383000 27 47 0 0 0.00106085 0 0 DMPK 1760 broad.mit.edu 37 19 46275947 46275947 + Silent SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr19:46275947G>A ENST00000600757.1 - 9 1998 c.1311C>T c.(1309-1311)caC>caT p.H437H DMPK_ENST00000458663.2_Silent_p.H427H|DMPK_ENST00000447742.2_Silent_p.H427H|DMPK_ENST00000291270.4_Silent_p.H432H|DMPK_ENST00000354227.5_Silent_p.H427H|DMPK_ENST00000343373.4_Silent_p.H442H Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 442 regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) GCGCTTGCACGTGTGGCTCAA 0.632000 17 3 0 0 0.00188189 0 0 MMEL1 79258 broad.mit.edu 37 1 2529663 2529663 + Nonsense_Mutation SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr1:2529663G>A ENST00000288709.6 - 13 1468 c.1228C>T c.(1228-1230)Cga>Tga p.R410* MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R262*|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R419* NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 419 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TAGTTCACTCGTGTGTCCTTG 0.582000 29 11 0 0 0.000409698 0 0 TPM3 7170 broad.mit.edu 37 1 154145663 154145663 + Missense_Mutation SNP A A G TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr1:154145663A>G ENST00000368533.3 - 3 333 c.281T>C c.(280-282)aTt>aCt p.I94T TPM3_ENST00000330188.9_Missense_Mutation_p.I94T|TPM3_ENST00000323144.7_Missense_Mutation_p.I94T|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000302206.5_Missense_Mutation_p.I4T|TPM3_ENST00000271850.7_Missense_Mutation_p.I131T|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368530.2_Missense_Mutation_p.I131T|TPM3_ENST00000368531.2_Missense_Mutation_p.I94T|TPM3_ENST00000328159.4_Missense_Mutation_p.I94T|TPM3_ENST00000341372.3_Missense_Mutation_p.I69T NM_001043352.1|NM_001278188.1|NM_153649.3 NP_001036817.1|NP_001265117.1|NP_705935.1 P06753 TPM3_HUMAN tropomyosin 3 130 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CCGGTTTTCAATAACCTTCAT 0.433000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 16 34 0 0 0.000422831 0 0 HDX 139324 broad.mit.edu 37 X 83616611 83616611 + Missense_Mutation SNP G G T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chrX:83616611G>T ENST00000297977.5 - 5 1426 c.1315C>A c.(1315-1317)Cgc>Agc p.R439S HDX_ENST00000506585.2_Missense_Mutation_p.R381S|HDX_ENST00000373177.2_Missense_Mutation_p.R439S NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 439 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 AACTGAGTGCGGTCCTGTAGC 0.378000 14 19 1.05317e-09 1.2287e-08 0.000219431 1 0 ACN9 57001 broad.mit.edu 37 7 96747045 96747045 + Silent SNP C C A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr7:96747045C>A ENST00000432641.2 + 1 1144 c.10C>A c.(10-12)Cgg>Agg p.R4R ACN9_ENST00000360382.4_Silent_p.R4R NM_020186.2 NP_064571.1 Q9NRP4 ACN9_HUMAN ACN9 homolog (S. cerevisiae) 4 regulation of gluconeogenesis mitochondrial intermembrane space large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3) 10 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) TATGCCGGGGCGGCACGTTTC 0.647000 24 40 1.74807e-11 2.14138e-10 0.000339439 1 0 CD22 933 broad.mit.edu 37 19 35832001 35832001 + Silent SNP T T C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr19:35832001T>C ENST00000085219.5 + 7 1533 c.1467T>C c.(1465-1467)agT>agC p.S489S CD22_ENST00000544992.2_Silent_p.S489S|CD22_ENST00000419549.2_Silent_p.S317S|CD22_ENST00000341773.6_Silent_p.S312S|CD22_ENST00000594250.1_Silent_p.S312S|CD22_ENST00000536635.2_Silent_p.S401S|CD22_ENST00000270311.6_Silent_p.S369S NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 489 Ig-like C2-type 4. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CTTGTAATAGTTGGTGCTCGT 0.622000 4 40 0 0 0.00024832 0 0 TMEM176A 55365 broad.mit.edu 37 7 150500857 150500857 + Silent SNP C C A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr7:150500857C>A ENST00000484928.1 + 5 1073 c.492C>A c.(490-492)ccC>ccA p.P164P TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P Q96HP8 T176A_HUMAN transmembrane protein 176A 164 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCAGCCCCCACTCAGAGTC 0.537000 19 41 3.62473e-10 4.332e-09 0.00188189 1 0 PSMD5 5711 broad.mit.edu 37 9 123586941 123586941 + Missense_Mutation SNP G G T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr9:123586941G>T ENST00000210313.3 - 7 911 c.837C>A c.(835-837)aaC>aaA p.N279K PSMD5_ENST00000373904.5_Missense_Mutation_p.N236K NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 279 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 ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 TGACAGCCAGGTTTCCAAAAA 0.388000 26 40 1.5548e-18 1.95347e-17 0.000878237 1 0 CAPNS2 84290 broad.mit.edu 37 16 55600782 55600782 + Silent SNP A A G TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr16:55600782A>G ENST00000457326.2 + 1 199 c.114A>G c.(112-114)ggA>ggG p.G38G LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 38 Gly-rich. cytoplasm|plasma membrane calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 GAAATATTGGAGGGATAGTTG 0.507000 3 28 0 0 0.00024832 0 0 EXD1 161829 broad.mit.edu 37 15 41476577 41476577 + Missense_Mutation SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr15:41476577G>A ENST00000314992.5 - 10 1287 c.1097C>T c.(1096-1098)cCa>cTa p.P366L EXD1_ENST00000458580.2_Missense_Mutation_p.P424L NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 366 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TGTAAAACTTGGAGCTTTATC 0.378000 51 87 0 0 0.000781405 0 0 GRIK4 2900 broad.mit.edu 37 11 120732708 120732708 + Missense_Mutation SNP G G T rs137906208 by1000genomes TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr11:120732708G>T ENST00000527524.2 + 9 1072 c.785G>T c.(784-786)cGt>cTt p.R262L GRIK4_ENST00000438375.2_Missense_Mutation_p.R262L|GRIK4_ENST00000527130.1_3'UTR Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 262 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GTGGATGATCGTGTCAACATC 0.483000 72 81 1.42382e-21 1.83598e-20 0.000781405 1 0 PCLO 27445 broad.mit.edu 37 7 82583261 82583261 + Silent SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr7:82583261G>A ENST00000423517.2 - 5 7345 c.7008C>T c.(7006-7008)tcC>tcT p.S2336S PCLO_ENST00000333891.8_Silent_p.S2336S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2267 Poly-Pro.|Pro-rich. 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 ACACGGTTTCGGATAAGCTAC 0.428000 45 49 0 0 0.000509022 0 0 USP37 57695 broad.mit.edu 37 2 219321847 219321847 + Missense_Mutation SNP A A C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr2:219321847A>C ENST00000258399.3 - 24 3093 c.2681T>G c.(2680-2682)gTt>gGt p.V894G USP37_ENST00000454775.1_Missense_Mutation_p.V894G|USP37_ENST00000418019.1_Missense_Mutation_p.V894G|USP37_ENST00000415516.1_Missense_Mutation_p.V800G NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 894 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GTGACTGACAACACTGATGAG 0.363000 4 45 0 0 0.00024832 0 0 POP1 10940 broad.mit.edu 37 8 99169863 99169863 + Silent SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr8:99169863G>A ENST00000401707.2 + 16 2520 c.2439G>A c.(2437-2439)aaG>aaA p.K813K POP1_ENST00000349693.3_Silent_p.K813K NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 813 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AATTACTGAAGCAACTGTCAG 0.488000 6 55 0 0 0.000157383 0 0 DOCK8 81704 broad.mit.edu 37 9 368171 368171 + Silent SNP G G C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr9:368171G>C ENST00000382329.1 + 2 456 c.69G>C c.(67-69)ggG>ggC p.G23G DOCK8_ENST00000469391.1_Intron|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 0 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TCAAATCAGGGTGGGCTGCTC 0.502000 41 23 0 0 0.00195071 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 35 45 0 0 0.00170553 0 0 GGT7 2686 broad.mit.edu 37 20 33439058 33439058 + Silent SNP C C T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr20:33439058C>T ENST00000336431.5 - 13 1745 c.1701G>A c.(1699-1701)gcG>gcA p.A567A GGT7_ENST00000469018.1_5'UTR NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 567 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TGAGGCCCCGCGCAGCTCCAT 0.637000 10 29 0 0 0.000978159 0 0 SMARCA4 6597 broad.mit.edu 37 19 11141525 11141525 + Missense_Mutation SNP G G C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr19:11141525G>C ENST00000358026.2 + 25 3786 c.3502G>C c.(3502-3504)Gca>Cca p.A1168P SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1168P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1168P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1168P NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1168 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCTCCAGTCGGCAGACACTGT 0.607000 """F, N, Mis""" NSCLC 3 8 0 0 6.4e-05 0 0 TMEM131 23505 broad.mit.edu 37 2 98377070 98377070 + Silent SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr2:98377070G>A ENST00000186436.5 - 38 5322 c.5094C>T c.(5092-5094)agC>agT p.S1698S NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1698 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CTGAGCCATCGCTGTCAACAG 0.478000 4 7 0 0 0.00024832 0 0 CLEC7A 64581 broad.mit.edu 37 12 10277909 10277909 + Missense_Mutation SNP C C T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr12:10277909C>T ENST00000353231.5 - 3 499 c.341G>A c.(340-342)aGc>aAc p.S114N CLEC7A_ENST00000298523.5_Missense_Mutation_p.S114N|CLEC7A_ENST00000304084.8_Missense_Mutation_p.S160N|CLEC7A_ENST00000533022.1_Missense_Mutation_p.S160N|CLEC7A_ENST00000396484.2_Missense_Mutation_p.S81N NM_022570.4 NP_072092.2 Q9BXN2 CLC7A_HUMAN C-type lectin domain family 7, member A 160 carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation cytoplasm|integral to membrane metal ion binding|MHC protein binding|sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 TTCATTTGAGCTGTCTATCTT 0.388000 11 70 0 0 0.00136819 0 0 RNF32 140545 broad.mit.edu 37 7 156447399 156447399 + Missense_Mutation SNP A A G TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr7:156447399A>G ENST00000392741.2 + 3 492 c.404A>G c.(403-405)gAg>gGg p.E135G RNF32_ENST00000432459.2_Missense_Mutation_p.E135G|RNF32_ENST00000405335.1_Missense_Mutation_p.E135G|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000311822.8_Missense_Mutation_p.E135G|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000343665.4_Missense_Mutation_p.E135G|RNF32_ENST00000317955.5_Missense_Mutation_p.E135G|RNF32_ENST00000392743.2_Missense_Mutation_p.E135G Q9H0A6 RNF32_HUMAN ring finger protein 32 135 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GAAGAATTCGAGCTTCGTCCT 0.542000 3 47 0 0 0.000602214 0 0 WFDC9 259240 broad.mit.edu 37 20 44237304 44237304 + Silent SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr20:44237304G>A ENST00000326000.1 - 4 454 c.237C>T c.(235-237)aaC>aaT p.N79N NM_147198.3 NP_671731.1 Q8NEX5 WFDC9_HUMAN WAP four-disulfide core domain 9 79 extracellular region breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) CAACTCACTCGTTGTCTAAGC 0.463000 10 85 0 0 0.000673444 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004654 75004654 + Missense_Mutation SNP C C T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chrX:75004654C>T ENST00000373359.2 - 1 425 c.233G>A c.(232-234)cGt>cAt p.R78H NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 78 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGCCCCCAAACGTCTGGACTG 0.557000 12 35 0 0 0.00136819 0 0 OR52N5 390075 broad.mit.edu 37 11 5799221 5799221 + Missense_Mutation SNP A A G TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr11:5799221A>G ENST00000317093.2 - 1 676 c.644T>C c.(643-645)aTt>aCt p.I215T TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AAACACTCCAATCAGGAGAGC 0.438000 15 57 0 0 0.000219431 0 0 TANGO6 79613 broad.mit.edu 37 16 68894132 68894132 + Missense_Mutation SNP T T C TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr16:68894132T>C ENST00000261778.1 + 2 452 c.440T>C c.(439-441)tTc>tCc p.F147S NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) ACTGTCCAGTTCGTTTTGCAG 0.483000 70 91 0 0 0.000781405 0 0 ZNF157 7712 broad.mit.edu 37 X 47269681 47269681 + Missense_Mutation SNP G G A TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chrX:47269681G>A ENST00000377073.3 + 2 165 c.79G>A c.(79-81)Gtg>Atg p.V27M NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 27 KRAB. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 ACAGGGGTCCGTGTCATTCGA 0.483000 9 81 0 0 0.000673444 0 0 TRPC6 7225 broad.mit.edu 37 11 101323746 101323746 + Silent SNP A A G TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr11:101323746A>G ENST00000344327.3 - 13 3160 c.2736T>C c.(2734-2736)ctT>ctC p.L912L TRPC6_ENST00000360497.4_Silent_p.L857L|TRPC6_ENST00000532133.1_Silent_p.L834L|TRPC6_ENST00000348423.4_Silent_p.L796L NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 912 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GTTCTCTAATAAGTTCTGCTA 0.368000 47 87 0 0 0.000781405 0 0 MST1L 0 broad.mit.edu 37 1 17084730 17084730 + RNA DEL G G - TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr1:17084730delG ENST00000455405.2 - 0 286 p.R494fs*37(1) AAGCACTGCCGGGCAGTCAGT 0.582 2 4 --- --- --- --- NRG2 9542 broad.mit.edu 37 5 139422532 139422534 + In_Frame_Del DEL GCT GCT - TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr5:139422532_139422534delGCT ENST00000541337.1 - 1 350_352 c.121_123delAGC c.(121-123)del p.S41del NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000361474.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 41 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity p.S41delS(2) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgccgctctcgctgctgctgctg 0.700 2 4 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174141 13174142 + RNA INS - - AAC rs112328257 by1000genomes TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr12:13174141_13174142insAAC ENST00000543321.1 + 0 1025 tctgtctcaaaaacaacaacaa 0.550 4 5 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 4 7 --- --- --- --- FOXJ1 2302 broad.mit.edu 37 17 74136327 74136327 + Frame_Shift_Del DEL G G - TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr17:74136327delG ENST00000322957.6 - 2 504 c.150delC c.(148-150)ccfs p.P50fs NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 50 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|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 large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) GGGGCAGGGCGGGGGCCTTGG 0.756 2 4 --- --- --- --- CTD-3018O17.3 0 broad.mit.edu 37 19 52896073 52896074 + RNA DEL TA TA - TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr19:52896073_52896074delTA ENST00000601562.1 - 0 784 GTGGAAGCTGTATATATATATA 0.460 2 4 --- --- --- --- CARD10 29775 broad.mit.edu 37 22 37900249 37900249 + Frame_Shift_Del DEL G G - TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b576b3bd-8c8b-4b42-bb6e-de38b2e326a5 f68fc265-8b53-451d-b684-8e541d074aeb g.chr22:37900249delG ENST00000403299.1 - 10 1794 c.1578delC c.(1576-1578)ccfs p.P526fs CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs|CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 526 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) AGCCGGCACTGGGGGGGAAGG 0.642 2 4 --- --- --- ---