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 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 5 317 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|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 47 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 57 10 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50724947 50724947 + Missense_Mutation SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr10:50724947C>T ENST00000515869.1 - 6 1738 c.1618G>A c.(1618-1620)Gag>Aag p.E540K PGBD3_ENST00000508005.2_Missense_Mutation_p.E72K|PGBD3_ENST00000374127.3_Missense_Mutation_p.E72K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E540K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E540K|ERCC6_ENST00000355832.5_Intron NM_001277059.1 NP_001263988.1 GAGTCAGACTCAGCATCAGAG 0.453000 6 95 0 0 1 0 0 MIR654 724024 broad.mit.edu 37 14 101506628 101506628 + RNA SNP T T C TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr14:101506628T>C ENST00000385199.1 + 0 73 NR_030390.1 CCATCACCTTTAGAAGCCCCC 0.557000 6 10 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516511 102516511 + RNA SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr15:102516511C>T ENST00000557932.1 + 0 1459 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 AGACTTGGGCCGTTGCTCTGA 0.627000 4 56 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 4 106 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50595871 50595871 + Silent SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:50595871C>T ENST00000444124.2 - 6 878 c.678G>A c.(676-678)ctG>ctA p.L226L DDC_ENST00000380984.4_Silent_p.L226L|DDC_ENST00000431062.1_Intron|DDC_ENST00000426377.1_Silent_p.L148L|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.L226L NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 226 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TGTCTCTCTCCAGGGCTTCCT 0.512000 12 53 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48314803 48314803 + Missense_Mutation SNP T T G TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:48314803T>G ENST00000435803.1 + 17 5564 c.5540T>G c.(5539-5541)aTg>aGg p.M1847R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1847 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CATGGGCTCATGTCTTCTTCC 0.448000 15 20 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149545325 149545325 + Missense_Mutation SNP T T C TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:149545325T>C ENST00000223210.4 + 4 988 c.743T>C c.(742-744)cTg>cCg p.L248P NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 CCAGGGCCTCTGGGAGGATTT 0.582000 12 10 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 3 15 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 3 54 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294648 102294648 + RNA SNP T T C TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr15:102294648T>C ENST00000561463.1 + 0 2694 TTCTCAGAGCTGCTGTCCAAC 0.587000 3 39 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294651 102294651 + RNA SNP T T G TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr15:102294651T>G ENST00000561463.1 + 0 2697 TCAGAGCTGCTGTCCAACCTG 0.587000 3 37 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) 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) atcaaagaaggaaagaagaag 0.423000 4 50 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135370341 135370341 + Missense_Mutation SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:135370341C>T ENST00000354042.4 - 14 2223 c.1534G>A c.(1534-1536)Gtg>Atg p.V512M C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 512 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 ACAATGGACACGAGGATGCAT 0.567000 48 71 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21573845 21573845 + Silent SNP G G A TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr1:21573845G>A ENST00000415912.2 - 9 1109 c.984C>T c.(982-984)ccC>ccT p.P328P ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Silent_p.P344P|ECE1_ENST00000374893.6_Silent_p.P344P|ECE1_ENST00000357071.4_Silent_p.P332P|ECE1_ENST00000264205.6_Silent_p.P341P NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 344 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) AGTTGATGGCGGGTGCCAAGG 0.537000 3 30 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22546262 22546262 + Missense_Mutation SNP C C T TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr16:22546262C>T ENST00000424340.1 + 7 2237 c.1958C>T c.(1957-1959)cCg>cTg p.P653L NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.P653L NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 AGACACCTGCCGAGCGTCTGC 0.582000 4 117 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232871 134232871 + Missense_Mutation SNP G G A TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr8:134232871G>A ENST00000250160.6 + 3 503 c.397G>A c.(397-399)Ggc>Agc p.G133S WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 133 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CTACAACAACGGCCAGTCCTT 0.667000 27 43 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 7 88 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 9 689 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 3 6 --- --- --- --- C10orf71 118461 broad.mit.edu 37 10 50534970 50534977 + Splice_Site DEL ACACACAC ACACACAC - rs72337199 TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr10:50534970_50534977delACACACAC ENST00000323868.4 + 4 2413_2415 c.2074_splice c.e4-1 p.692_splice C10orf71_ENST00000374144.3_3'UTR NM_001135196.1 NP_001128668.1 Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 692 p.?(1) endometrium(1) 1 AAAACAAGCAacacacacacacacacac 0.505 4 2 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-QR-A70M-01A-11D-A35D-08 TCGA-QR-A70M-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0e1131e-5535-4486-b713-f1fffb65f6c4 abfa77cd-8240-4def-86b6-16fe97e5596f g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TCCCTGGAAAACACACACACAC 0.411 10 113 --- --- --- ---