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 CCDC178 374864 broad.mit.edu 37 18 30903498 30903498 + Missense_Mutation SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr18:30903498C>T ENST00000383096.3 - 11 1161 c.979G>A c.(979-981)Gat>Aat p.D327N CCDC178_ENST00000402325.1_Missense_Mutation_p.D327N|CCDC178_ENST00000579947.1_Missense_Mutation_p.D327N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D327N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.D327N|CCDC178_ENST00000300227.8_Missense_Mutation_p.D327N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D327N coiled-coil domain containing 178 ATATCCTTATCAATCTCTTCT 0.323000 3 13 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38835389 38835389 + Missense_Mutation SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr3:38835389C>A ENST00000449082.2 - 1 112 c.113G>T c.(112-114)aGa>aTa p.R38I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 38 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATGCTTCTCTCTGGCTTTCTT 0.522000 16 29 0.000422831 0.000455357 1 1 0 COL12A1 1303 broad.mit.edu 37 6 75865417 75865417 + Missense_Mutation SNP A A G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr6:75865417A>G ENST00000322507.8 - 16 3713 c.3404T>C c.(3403-3405)gTt>gCt p.V1135A COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1135A|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1135A NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1135 Fibronectin type-III 8. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ATAGGGTCCAACCACTAACTC 0.453000 3 80 0 0 1 0 0 KTI12 112970 broad.mit.edu 37 1 52499103 52499103 + Missense_Mutation SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:52499103C>T ENST00000371614.1 - 1 385 c.331G>A c.(331-333)Ggc>Agc p.G111S RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 111 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 ATCGGGCCGCCGGGCCGTACG 0.677000 11 48 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2050502 2050502 + Missense_Mutation SNP G G T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr8:2050502G>T ENST00000262113.4 + 21 2806 c.2665G>T c.(2665-2667)Gca>Tca p.A889S MYOM2_ENST00000523438.1_Missense_Mutation_p.A314S NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 889 Fibronectin type-III 5. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CAGGGTCCGGGCAGTCAATGC 0.502000 5 8 2.7689e-08 3.14307e-08 1 1 0 INSRR 3645 broad.mit.edu 37 1 156812204 156812204 + Missense_Mutation SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:156812204G>A ENST00000368195.3 - 18 3619 c.3223C>T c.(3223-3225)Cgg>Tgg p.R1075W NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1075 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTCAGGCCGCAAAGATCGA 0.602000 21 79 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651937 84651937 + Missense_Mutation SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr15:84651937C>T ENST00000286744.5 + 21 3781 c.3557C>T c.(3556-3558)cCc>cTc p.P1186L ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1186L NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1186 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.P1186L(1) NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCCAACCTCCCTCAATTTCA 0.413000 5 29 0 0 1 0 0 FAM78B 149297 broad.mit.edu 37 1 166039888 166039888 + Missense_Mutation SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:166039888C>A ENST00000338353.3 - 3 965 c.376G>T c.(376-378)Ggc>Tgc p.G126C FAM78B_ENST00000354422.3_Missense_Mutation_p.G126C Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 126 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) TTGGTGGGGCCAACCAGGGTC 0.537000 34 45 9.04072e-19 1.10061e-18 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107840675 107840675 + Silent SNP T T G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chrX:107840675T>G ENST00000328300.6 + 24 1900 c.1656T>G c.(1654-1656)acT>acG p.T552T COL4A5_ENST00000361603.2_Silent_p.T552T NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 552 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.T552T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ATATCCTCACTTTTCCAGGAA 0.512000 Alport syndrome with Diffuse Leiomyomatosis 7 50 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113293441 113293441 + Missense_Mutation SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr8:113293441G>A ENST00000297405.5 - 59 9714 c.9470C>T c.(9469-9471)gCc>gTc p.A3157V CSMD3_ENST00000352409.3_Missense_Mutation_p.A3087V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3117V|CSMD3_ENST00000455883.2_Missense_Mutation_p.A2988V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3157 Sushi 23. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTTCCATTGGCTGTGCACTG 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 64 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581456 140581456 + Missense_Mutation SNP C C G rs142976572 TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr5:140581456C>G ENST00000354757.3 + 1 2109 c.2109C>G c.(2107-2109)ttC>ttG p.F703L PCDHB11_ENST00000536699.1_Missense_Mutation_p.F338L NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 703 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTTCCTCTTCTCGGTGCTCC 0.687000 14 82 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138601149 138601149 + Missense_Mutation SNP A A G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr6:138601149A>G ENST00000251691.4 + 14 2475 c.2309A>G c.(2308-2310)aAg>aGg p.K770R NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 770 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GACTTCATGAAGCAGGTGCAG 0.552000 22 43 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10699179 10699179 + Missense_Mutation SNP G G C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:10699179G>C ENST00000377022.3 - 21 5417 c.5100C>G c.(5098-5100)gaC>gaG p.D1700E NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1700 Asp-rich.|Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) cgtcgtcgtcgtcctcgtcgt 0.731000 2 2 0 0 1 0 0 TP53I11 9537 broad.mit.edu 37 11 44959810 44959810 + Missense_Mutation SNP T T C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr11:44959810T>C ENST00000533940.1 - 5 681 c.77A>G c.(76-78)aAg>aGg p.K26R TP53I11_ENST00000395648.3_Missense_Mutation_p.K26R|TP53I11_ENST00000531928.2_Missense_Mutation_p.K26R|TP53I11_ENST00000525680.1_Missense_Mutation_p.K26R|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000308212.5_Missense_Mutation_p.K26R NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 26 negative regulation of cell proliferation|response to stress integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 GCCGAGGATCTTGCGGGTCTT 0.692000 5 22 0 0 1 0 0 C6orf89 221477 broad.mit.edu 37 6 36870061 36870061 + Missense_Mutation SNP T T C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr6:36870061T>C ENST00000480824.2 + 4 548 c.254T>C c.(253-255)tTa>tCa p.L85S C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.L85S|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.L92S Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 85 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 TTCAGCCCATTAGCACCTGAG 0.473000 17 40 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111399326 111399326 + Nonsense_Mutation SNP T T A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr2:111399326T>A ENST00000535254.1 - 20 2525 c.2458A>T c.(2458-2460)Aga>Tga p.R820* BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Nonsense_Mutation_p.R840*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.R840* NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 840 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GGCTTTAGTCTTTCCATCAAC 0.428000 22 76 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180377314 180377314 + Nonsense_Mutation SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr3:180377314C>A ENST00000273654.4 - 12 1535 c.916G>T c.(916-918)Gaa>Taa p.E306* CCDC39_ENST00000442201.2_Nonsense_Mutation_p.E222* Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 222 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTAATGAGTTCTTGTCTTTCA 0.353000 16 19 3.51602e-12 4.10202e-12 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18788726 18788726 + Nonsense_Mutation SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr7:18788726C>T ENST00000406451.3 + 14 2149 c.1999C>T c.(1999-2001)Cga>Tga p.R667* HDAC9_ENST00000441542.2_Nonsense_Mutation_p.R670*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.R667*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.R626* NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 667 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TATCTGGTCACGACTGCAAGA 0.438000 5 35 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113496656 113496656 + Splice_Site SNP G G T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr9:113496656G>T ENST00000416899.2 + 6 879 c.e6+1 MUSK_ENST00000374448.4_Splice_Site|MUSK_ENST00000189978.5_Splice_Site O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CGGAAATGCTGTGAGTGTCAT 0.488000 4 90 1 1 1 1 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) 12 7 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132002640 132002640 + Splice_Site SNP T T G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr8:132002640T>G ENST00000286355.5 - 2 3201 c.1110_splice c.e2+1 p.Q370_splice ADCY8_ENST00000377928.3_Splice_Site_p.Q370_splice NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 370 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGTTGGTACCTGTCTTTGGTT 0.502000 HNSCC(32;0.087) 11 63 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237948062 237948062 + Silent SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:237948062G>A ENST00000366574.2 + 90 13367 c.13050G>A c.(13048-13050)gaG>gaA p.E4350E RYR2_ENST00000360064.6_Silent_p.E4356E|RYR2_ENST00000542537.1_Silent_p.E4334E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4350 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGAGGGAGAGAGGAAACCCC 0.542000 6 43 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17744124 17744124 + Missense_Mutation SNP A A C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chrX:17744124A>C ENST00000380060.3 + 6 2173 c.1835A>C c.(1834-1836)aAc>aCc p.N612T NHS_ENST00000398097.3_Missense_Mutation_p.N456T NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 612 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) TCCAGTGGCAACTGGAGTGGG 0.592000 9 95 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148549 34148549 + Missense_Mutation SNP C C G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chrX:34148549C>G ENST00000346193.3 - 1 1898 c.1847G>C c.(1846-1848)gGa>gCa p.G616A NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 616 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TCCCAGGTCTCCAGCCCACTT 0.438000 4 36 0 0 1 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217383 26217383 + Missense_Mutation SNP G G C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr6:26217383G>C ENST00000303910.2 + 1 219 c.181G>C c.(181-183)Gcc>Ccc p.A61P NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 61 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) ATATCTGACGGCCGAGATCTT 0.627000 9 36 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76869353 76869353 + Missense_Mutation SNP G G T rs144530847 by1000genomes TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr11:76869353G>T ENST00000409709.3 + 9 1152 c.880G>T c.(880-882)Gac>Tac p.D294Y MYO7A_ENST00000409619.2_Missense_Mutation_p.D283Y|MYO7A_ENST00000458637.2_Missense_Mutation_p.D294Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.D294Y NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 294 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGGCCGGGTGGACAGCCAGGA 0.617000 7 36 2.0095e-06 2.25064e-06 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7695291 7695291 + Silent SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr17:7695291C>T ENST00000572933.1 + 45 8417 c.6957C>T c.(6955-6957)ttC>ttT p.F2319F DNAH2_ENST00000389173.2_Silent_p.F2319F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2319 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CATTTGTGTTCAGCATGATCT 0.522000 27 93 0 0 1 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716613 153716613 + Missense_Mutation SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chrX:153716613G>A ENST00000263512.4 - 2 1165 c.667C>T c.(667-669)Ccc>Tcc p.P223S SLC10A3_ENST00000369649.4_Missense_Mutation_p.P194S|SLC10A3_ENST00000393587.4_Missense_Mutation_p.P223S|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P278S NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 223 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGGGCTGGGGGCTCTGCATG 0.562000 7 34 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136501721 136501721 + Silent SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr9:136501721C>A ENST00000393056.2 + 1 240 c.228C>A c.(226-228)ctC>ctA p.L76L NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 76 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding p.L76L(1) central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) ATTTCCAGCTCCTGGTGCGGA 0.627000 7 14 5.4927e-09 6.32037e-09 1 1 0 VANGL2 57216 broad.mit.edu 37 1 160389273 160389273 + Missense_Mutation SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:160389273C>T ENST00000368061.2 + 4 1148 c.674C>T c.(673-675)gCc>gTc p.A225V NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 225 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGTGGACGCCCTTCTTTTC 0.652000 6 46 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88387495 88387495 + Silent SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr2:88387495G>A ENST00000419482.2 + 3 514 c.429G>A c.(427-429)gaG>gaA p.E143E SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Silent_p.E143E NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 143 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 GGGAGGAGGAGCAGAAGGACC 0.617000 3 50 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45624599 45624599 + Missense_Mutation SNP T T G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr14:45624599T>G ENST00000267430.5 + 8 1418 c.1333T>G c.(1333-1335)Tat>Gat p.Y445D FANCM_ENST00000556036.1_Missense_Mutation_p.Y445D|FANCM_ENST00000542564.2_Missense_Mutation_p.Y419D NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 445 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AAAATTTGTTTATAGTCATCC 0.254000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 3 14 0 0 1 0 0 KLRB1 3820 broad.mit.edu 37 12 9760420 9760420 + Missense_Mutation SNP T T C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr12:9760420T>C ENST00000229402.3 - 1 62 c.16A>G c.(16-18)Ata>Gta p.I6V NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 6 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 TCAGCATATATTGCTTGTTGG 0.428000 3 24 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37536565 37536565 + Missense_Mutation SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr20:37536565G>A ENST00000299824.1 + 9 1204 c.1015G>A c.(1015-1017)Gca>Aca p.A339T PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A297T NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 339 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GACCTCCAGCGCAGGCAGCCG 0.597000 4 28 0 0 1 0 0 RGS13 6003 broad.mit.edu 37 1 192627355 192627355 + Missense_Mutation SNP A A G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:192627355A>G ENST00000391995.2 + 6 440 c.152A>G c.(151-153)tAt>tGt p.Y51C RGS13_ENST00000543215.1_Missense_Mutation_p.Y51C|RGS13_ENST00000482095.1_3'UTR NM_002927.4 NP_002918.1 O14921 RGS13_HUMAN regulator of G-protein signaling 13 51 RGS. plasma membrane GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1) 19 TATGCAGCATATTTAAAAATG 0.358000 15 24 0 0 1 0 0 OR1D5 8386 broad.mit.edu 37 17 2966283 2966283 + Missense_Mutation SNP A A C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr17:2966283A>C ENST00000575751.1 - 1 618 c.619T>G c.(619-621)Ttc>Gtc p.F207V NM_014566.1 NP_055381.1 P58170 OR1D5_HUMAN olfactory receptor, family 1, subfamily D, member 5 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|lung(10) 11 GGGGTGAGGAAGATGAAGCAG 0.483000 5 21 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29386745 29386745 + Missense_Mutation SNP G G T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr2:29386745G>T ENST00000320081.5 + 13 1838 c.1583G>T c.(1582-1584)gGt>gTt p.G528V CLIP4_ENST00000404424.1_Missense_Mutation_p.G528V|CLIP4_ENST00000401617.2_Missense_Mutation_p.G421V|CLIP4_ENST00000401605.1_Missense_Mutation_p.G528V NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 528 CAP-Gly 2. endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) AAGAATGATGGTTCAGTTGGA 0.378000 27 30 2.68265e-12 3.17384e-12 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107838765 107838765 + Missense_Mutation SNP T T G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chrX:107838765T>G ENST00000328300.6 + 22 1694 c.1450T>G c.(1450-1452)Tgc>Ggc p.C484G COL4A5_ENST00000361603.2_Missense_Mutation_p.C484G NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 484 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTGCTTCAACTGCATTGGAAC 0.403000 Alport syndrome with Diffuse Leiomyomatosis 8 67 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209067 71209067 + Splice_Site SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr14:71209067C>A ENST00000554752.2 - 6 1567 c.e6+1 MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CGGCCACTGACCAGAAGGGAG 0.607000 23 77 2.4375e-19 3.01103e-19 1 1 0 LTBP4 8425 broad.mit.edu 37 19 41128356 41128356 + Missense_Mutation SNP G G T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr19:41128356G>T ENST00000308370.7 + 27 3466 c.3466G>T c.(3466-3468)Gcc>Tcc p.A1156S LTBP4_ENST00000396819.3_Missense_Mutation_p.A1089S|LTBP4_ENST00000204005.9_Missense_Mutation_p.A1119S|LTBP4_ENST00000545697.1_Missense_Mutation_p.A524S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1157 Pro-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGTTCTGCCCGCCAGGCCACC 0.711000 3 6 0.150653 0.152469 1 1 0 MIR450A2 574505 broad.mit.edu 37 X 133674538 133674538 + RNA SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chrX:133674538C>A ENST00000385022.1 - 0 99 NR_030227.1 CCTCTTTTCCCCATATTATTG 0.343000 5 47 0.014758 0.0154959 1 1 0 NPFFR2 10886 broad.mit.edu 37 4 73013371 73013371 + Missense_Mutation SNP A A G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr4:73013371A>G ENST00000308744.6 + 4 1509 c.1411A>G c.(1411-1413)Agc>Ggc p.S471G NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S372G|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S369G NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 471 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) AAAAGCTAAAAGCCATGTGCT 0.433000 3 14 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140107026 140107026 + Missense_Mutation SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr9:140107026G>A ENST00000371521.4 + 3 369 c.286G>A c.(286-288)Ggc>Agc p.G96S NDOR1_ENST00000344894.5_Missense_Mutation_p.G96S|NDOR1_ENST00000458322.2_Missense_Mutation_p.G96S|NDOR1_ENST00000427047.2_Missense_Mutation_p.G96S NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 96 Flavodoxin-like. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGCCGTCCTGGGCCTCGGGGA 0.587000 17 43 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340055 62340055 + Silent SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr20:62340055G>A ENST00000328969.5 + 2 250 c.123G>A c.(121-123)ggG>ggA p.G41G ZGPAT_ENST00000357119.4_Silent_p.G41G|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Silent_p.G41G|ZGPAT_ENST00000369967.3_Silent_p.G41G|ZGPAT_ENST00000355969.6_Silent_p.G41G NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 41 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) AGCTGCAGGGGGACCTGAAGG 0.687000 7 24 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114111023 114111023 + Missense_Mutation SNP A A C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr8:114111023A>C ENST00000297405.5 - 5 1123 c.879T>G c.(877-879)gaT>gaG p.D293E CSMD3_ENST00000352409.3_Missense_Mutation_p.D293E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D253E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D293E|CSMD3_ENST00000519485.1_5'UTR NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 293 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTCTAAGTAATCATATTTCT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 18 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7726790 7726790 + Missense_Mutation SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr17:7726790C>A ENST00000572933.1 + 74 12633 c.11173C>A c.(11173-11175)Cca>Aca p.P3725T DNAH2_ENST00000389173.2_Missense_Mutation_p.P3725T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3725 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AATGGACAATCCATGTAGTAG 0.483000 54 46 2.84776e-26 3.57032e-26 1 1 0 LRRC27 80313 broad.mit.edu 37 10 134161561 134161561 + Silent SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr10:134161561G>A ENST00000392638.2 + 6 822 c.627G>A c.(625-627)gcG>gcA p.A209A LRRC27_ENST00000344079.5_Silent_p.A209A|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368610.3_Silent_p.A147A|LRRC27_ENST00000368612.1_Silent_p.A147A|LRRC27_ENST00000432555.2_Silent_p.A82A|LRRC27_ENST00000368615.3_Silent_p.A209A|LRRC27_ENST00000368614.3_Silent_p.A209A|LRRC27_ENST00000368613.4_Silent_p.A209A Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 209 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GAGACCACGCGTCTAACCAAG 0.567000 14 27 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340076 62340076 + Silent SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr20:62340076G>A ENST00000328969.5 + 2 271 c.144G>A c.(142-144)gaG>gaA p.E48E ZGPAT_ENST00000357119.4_Silent_p.E48E|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Silent_p.E48E|ZGPAT_ENST00000369967.3_Silent_p.E48E|ZGPAT_ENST00000355969.6_Silent_p.E48E NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 48 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) AGCTCATCGAGCTCACCGAGG 0.667000 9 30 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176825247 176825247 + Missense_Mutation SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr5:176825247G>A ENST00000324417.5 + 13 1971 c.1880G>A c.(1879-1881)cGt>cAt p.R627H SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 627 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTCCCCCCGTCTTGCACTG 0.692000 5 26 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113988160 113988160 + Silent SNP A A G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr8:113988160A>G ENST00000297405.5 - 7 1492 c.1248T>C c.(1246-1248)tcT>tcC p.S416S CSMD3_ENST00000352409.3_Silent_p.S416S|CSMD3_ENST00000343508.3_Silent_p.S376S|CSMD3_ENST00000455883.2_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 416 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTGGATGAGGAGAGAGCCCGT 0.478000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 54 0 0 1 0 0 GPS1 2873 broad.mit.edu 37 17 80012838 80012838 + Missense_Mutation SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr17:80012838C>T ENST00000392358.2 + 5 1143 c.794C>T c.(793-795)cCa>cTa p.P265L GPS1_ENST00000578552.1_Missense_Mutation_p.P225L|GPS1_ENST00000320548.4_Missense_Mutation_p.P209L|GPS1_ENST00000355130.2_Missense_Mutation_p.P265L|GPS1_ENST00000306823.6_Missense_Mutation_p.P229L NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 229 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GAGTCCACCCCAGAGATTGCC 0.642000 15 42 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135771795 135771795 + Missense_Mutation SNP C C G rs118203753 TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr9:135771795C>G ENST00000298552.3 - 23 3543 c.3322G>C c.(3322-3324)Ggc>Cgc p.G1108R TSC1_ENST00000440111.2_Missense_Mutation_p.G1108R|TSC1_ENST00000545250.1_Missense_Mutation_p.G1057R NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1108 G -> S. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTGGTCATGCCGTCCTCATCA 0.527000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 17 17 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997013 82997013 + Silent SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr7:82997013C>T ENST00000307792.3 - 17 2684 c.2217G>A c.(2215-2217)agG>agA p.R739R SEMA3E_ENST00000427262.1_Silent_p.R679R NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 739 Arg/Lys-rich (basic). axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TAAGCTTTTTCCTCTTTCTAT 0.473000 14 68 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149225967 149225967 + Missense_Mutation SNP C C G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr2:149225967C>G ENST00000407073.1 + 9 1452 c.455C>G c.(454-456)tCt>tGt p.S152C MBD5_ENST00000404807.1_Missense_Mutation_p.S152C NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 152 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGAAATAAGTCTCATGAAGGA 0.368000 8 12 0 0 1 0 0 RUNDC1 146923 broad.mit.edu 37 17 41139391 41139391 + Missense_Mutation SNP A A G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr17:41139391A>G ENST00000361677.1 + 2 629 c.617A>G c.(616-618)tAt>tGt p.Y206C NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 206 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) gagggcagttatgactcgctg 0.542000 6 23 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169699661 169699661 + Missense_Mutation SNP G G T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:169699661G>T ENST00000333360.7 - 5 766 c.627C>A c.(625-627)agC>agA p.S209R SELE_ENST00000367775.1_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.S209R|SELE_ENST00000367776.1_Missense_Mutation_p.S209R|SELE_ENST00000367774.1_Missense_Mutation_p.S209R|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.S209R|SELE_ENST00000367779.4_Missense_Mutation_p.S209R|SELE_ENST00000367782.4_Missense_Mutation_p.S209R NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 209 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CCCTATCACAGCTGATAGAGC 0.512000 13 65 0.000308642 0.0003367 1 1 0 USF2 7392 broad.mit.edu 37 19 35760495 35760495 + Missense_Mutation SNP C C G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr19:35760495C>G ENST00000222305.3 + 3 158 c.121C>G c.(121-123)Cca>Gca p.P41A USF2_ENST00000595068.1_Missense_Mutation_p.P41A|USF2_ENST00000343550.5_Missense_Mutation_p.P41A|USF2_ENST00000379134.3_Missense_Mutation_p.P41A|USF2_ENST00000594064.1_Missense_Mutation_p.P39A NM_003367.2 NP_003358.1 Q15853 USF2_HUMAN upstream transcription factor 2, c-fos interacting 41 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1) 13 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) CGGGGACGGCCCAGGAGCGGA 0.736000 8 4 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134873005 134873005 + Missense_Mutation SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr3:134873005G>A ENST00000398015.3 + 6 1679 c.1309G>A c.(1309-1311)Gtt>Att p.V437I EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 437 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCCCTCCACCGTTCCCATCAT 0.532000 92 153 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24569244 24569244 + Silent SNP G G T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr14:24569244G>T ENST00000545054.2 + 7 1572 c.654G>T c.(652-654)ggG>ggT p.G218G PCK2_ENST00000561286.1_Silent_p.G218G|PCK2_ENST00000216780.4_Silent_p.G352G|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.G352G|PCK2_ENST00000559250.1_Silent_p.G364G|PCK2_ENST00000558096.1_Silent_p.G218G Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 352 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) GCTTCTTTGGGGTTGCCCCTG 0.507000 4 75 0.0293803 0.0304685 1 1 0 RP1 6101 broad.mit.edu 37 8 55538646 55538646 + Missense_Mutation SNP A A T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr8:55538646A>T ENST00000220676.1 + 4 2352 c.2204A>T c.(2203-2205)gAt>gTt p.D735V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 735 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAGAAAAGTGATACTGTAATT 0.318000 5 24 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 686377 686377 + Silent SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr17:686377C>T ENST00000304478.4 + 2 475 c.369C>T c.(367-369)atC>atT p.I123I NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 123 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) AAGGGAAGATCCTGCTGGAAG 0.428000 4 33 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134977882 134977882 + Missense_Mutation SNP G G T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr3:134977882G>T ENST00000398015.3 + 16 3245 c.2875G>T c.(2875-2877)Gca>Tca p.A959S EPHB1_ENST00000493838.1_Missense_Mutation_p.A520S NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 959 SAM. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CATCACCTTGGCAGGCCATCA 0.453000 7 11 2.17888e-05 2.40823e-05 1 1 0 OR5B2 390190 broad.mit.edu 37 11 58190560 58190560 + Missense_Mutation SNP A A C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr11:58190560A>C ENST00000302581.2 - 1 226 c.175T>G c.(175-177)Ttt>Gtt p.F59V NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTGAGGAAAAAGTACATGGGG 0.498000 12 49 0 0 1 0 0 CENPH 64946 broad.mit.edu 37 5 68491555 68491555 + Missense_Mutation SNP A A T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr5:68491555A>T ENST00000283006.2 + 4 338 c.251A>T c.(250-252)gAc>gTc p.D84V CENPH_ENST00000515001.1_Missense_Mutation_p.D84V NM_022909.3 NP_075060.1 Q9H3R5 CENPH_HUMAN centromere protein H 84 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding kidney(15)|large_intestine(2)|lung(3) 20 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) AAAATTGAAGACCTGGAAAAT 0.264000 8 10 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23064923 23064923 + Missense_Mutation SNP T T C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr20:23064923T>C ENST00000246006.4 - 1 2054 c.1907A>G c.(1906-1908)gAg>gGg p.E636G NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 636 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGCCCTGCTCTCAGCTCGCTC 0.592000 13 79 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35780974 35780974 + Nonsense_Mutation SNP G G T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr3:35780974G>T ENST00000187397.4 + 17 2266 c.1810G>T c.(1810-1812)Gga>Tga p.G604* ARPP21_ENST00000417925.1_Nonsense_Mutation_p.G605*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.G585*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.G585*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.G605* NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 604 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GCTTCCTACAGGAGGATTCTC 0.617000 9 12 1.11149e-13 1.33379e-13 1 1 0 NOS1 4842 broad.mit.edu 37 12 117768586 117768586 + Silent SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr12:117768586G>A ENST00000317775.6 - 2 974 c.289C>T c.(289-291)Ctg>Ttg p.L97L NOS1_ENST00000344089.3_Silent_p.L97L|NOS1_ENST00000338101.4_Silent_p.L97L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 97 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGGCCCCTCAGAATGAGGACC 0.622000 7 11 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121691675 121691675 + Missense_Mutation SNP C C G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr10:121691675C>G ENST00000369075.3 + 16 2675 c.2603C>G c.(2602-2604)tCt>tGt p.S868C SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.S657C NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 868 DDHD. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) CGTATGGGATCTGATTTGAAG 0.388000 7 45 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040257 107040257 + Missense_Mutation SNP T T C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr2:107040257T>C ENST00000409886.3 - 20 4253 c.4166A>G c.(4165-4167)gAt>gGt p.D1389G RGPD3_ENST00000304514.7_Missense_Mutation_p.D1389G NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1389 RanBD1 2. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GTGCTTATTATCATAATTCTG 0.353000 69 100 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283414 152283414 + Silent SNP T T C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:152283414T>C ENST00000368799.1 - 3 3983 c.3948A>G c.(3946-3948)agA>agG p.R1316R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1316 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGACTGGCTCTGTCTTCTT 0.542000 Ichthyosis 119 220 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45133262 45133262 + Missense_Mutation SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr20:45133262C>T ENST00000457685.2 - 4 1348 c.25G>A c.(25-27)Gtc>Atc p.V9I ZNF334_ENST00000593880.1_Missense_Mutation_p.G52D|ZNF334_ENST00000347606.4_Missense_Mutation_p.V47I Q9HCZ1 ZN334_HUMAN zinc finger protein 334 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CCCACAGAGACCAAGTTGCTG 0.458000 10 53 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233221 21233221 + Missense_Mutation SNP T T G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr2:21233221T>G ENST00000233242.1 - 26 6646 c.6519A>C c.(6517-6519)caA>caC p.Q2173H NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2173 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGTCTGCAGTTGAGATAGTT 0.259000 3 13 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760573 186760573 + Missense_Mutation SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr3:186760573G>A ENST00000169298.3 + 4 756 c.82G>A c.(82-84)Gaa>Aaa p.E28K ST6GAL1_ENST00000448044.1_Missense_Mutation_p.E28K|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 28 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TGTGTGGAAGGAAAAGAAGAA 0.433000 31 43 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124824765 124824765 + Missense_Mutation SNP G G C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr8:124824765G>C ENST00000334705.7 + 24 2584 c.2338G>C c.(2338-2340)Gct>Cct p.A780P NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 780 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TTAGGAAGGTGCTTCAATATT 0.363000 23 36 0 0 1 0 0 ISG20L2 81875 broad.mit.edu 37 1 156697421 156697421 + Silent SNP C C G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:156697421C>G ENST00000313146.6 - 1 806 c.24G>C c.(22-24)ctG>ctC p.L8L ISG20L2_ENST00000368219.1_Silent_p.L8L NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 8 ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCAAAATCCAGATTGAGCA 0.468000 39 55 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114803908 114803908 + Missense_Mutation SNP C C G TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr12:114803908C>G ENST00000526441.1 - 7 1043 c.1044G>C c.(1042-1044)tgG>tgC p.W348C TBX5_ENST00000310346.4_Intron|TBX5_ENST00000405440.2_Intron|TBX5_ENST00000349716.5_Intron Q99593 TBX5_HUMAN T-box 5 0 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CCCCTCACCCCCAACCCAAGG 0.358000 7 28 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12680707 12680707 + Missense_Mutation SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr18:12680707C>T ENST00000262127.2 - 9 1468 c.1243G>A c.(1243-1245)Gga>Aga p.G415R RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.G340R NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 415 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCATCAGTTCCACAAGTCATA 0.378000 37 50 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44259720 44259720 + Missense_Mutation SNP C C A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr7:44259720C>A ENST00000395749.2 - 23 2018 c.1942G>T c.(1942-1944)Ggc>Tgc p.G648C CAMK2B_ENST00000358707.3_Missense_Mutation_p.G485C|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000353625.4_Missense_Mutation_p.G461C|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G524C|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G474C|CAMK2B_ENST00000258682.6_Missense_Mutation_p.G499C|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000457475.1_Missense_Mutation_p.G500C|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G524C|CAMK2B_ENST00000395747.2_Missense_Mutation_p.G500C|CAMK2B_ENST00000346990.4_Missense_Mutation_p.G431C NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 648 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TGCCACTTGCCGTCGCGGCGG 0.672000 8 9 0.000673444 0.000716067 1 1 0 EP400 57634 broad.mit.edu 37 12 132537941 132537941 + Silent SNP G G C TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr12:132537941G>C ENST00000333577.4 + 44 7744 c.7635G>C c.(7633-7635)ccG>ccC p.P2545P EP400_ENST00000389561.2_Silent_p.P2509P|EP400_ENST00000332482.4_Silent_p.P2472P|EP400_ENST00000389562.2_Silent_p.P2508P|EP400_ENST00000330386.6_Silent_p.P2428P Q96L91 EP400_HUMAN E1A binding protein p400 2545 Interaction with ZNF42 (By similarity).|Poly-Pro. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity 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) Agccacccccgccccagccgc 0.736000 2 2 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69184598 69184598 + Silent SNP G G A TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr16:69184598G>A ENST00000563094.1 + 7 931 c.897G>A c.(895-897)gcG>gcA p.A299A CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Silent_p.A299A|CIRH1A_ENST00000314423.7_Silent_p.A299A Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 299 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) GCCCAACAGCGCTGATATCTG 0.552000 OREG0023906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 36 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39376765 39376765 + Silent SNP C C T TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr5:39376765C>T ENST00000320816.6 - 12 2591 c.2124G>A c.(2122-2124)ttG>ttA p.L708L DAB2_ENST00000509337.1_Silent_p.L687L|DAB2_ENST00000339788.6_Silent_p.L490L|DAB2_ENST00000545653.1_Silent_p.L687L NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 708 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) TGATCTTGTTCAATAGTTGAT 0.453000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 86 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207739269 207739272 + Splice_Site DEL GTGA GTGA - TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr1:207739269_207739272delGTGA ENST00000367049.4 + 24 3952 c.e24+1 CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000400960.2_Splice_Site|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Splice_Site|CR1_ENST00000367052.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTGTGTGAACGTGAGTAATAGGAG 0.397 8 90 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242465 55242479 + In_Frame_Del DEL GGAATTAAGAGAAGC GGAATTAAGAGAAGC - rs121913438 TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr7:55242465_55242479delGGAATTAAGAGAAGC ENST00000275493.2 + 19 2412_2426 c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)aaa>aa p.KELREA745del EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 745 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG 0.479 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 8 104 --- --- --- --- PHF2 5253 broad.mit.edu 37 9 96439004 96439005 + In_Frame_Ins INS - - CCTGCCTCCACCACA rs75653373 by1000genomes TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr9:96439004_96439005insCCTGCCTCCACCACA ENST00000359246.4 + 21 3328_3329 c.2961_2962insCCTGCCTCCACCACA c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc p.987_988TG>TLPPPHG PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 987 Ser/Thr-rich. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 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 p.T987_P988insPASTT(1)|p.T987T(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) cctctaccaccccggcctccac 0.688 2 4 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48919226 48919229 + Frame_Shift_Del DEL TTCT TTCT - TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr13:48919226_48919229delTTCT ENST00000267163.4 + 4 529_532 c.391_394delTTCT c.(391-396)ttfs p.FF131fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 131 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGTCCATAAATTCTTTAACTTACT 0.275 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 17 8 --- --- --- --- ZSCAN30 100101467 broad.mit.edu 37 18 32843477 32843478 + Splice_Site DEL CT CT - TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr18:32843477_32843478delCT ENST00000420878.3 - 4 1007_1008 c.553_splice c.e4+1 p.RD184_splice ZSCAN30_ENST00000333206.5_Splice_Site_p.RD184_splice|ZSCAN30_ENST00000589178.1_Splice_Site_p.RD184_splice|ZSCAN30_ENST00000601405.1_3'UTR|ZSCAN30_ENST00000383091.2_Splice_Site_p.RD184_splice|ZNF397_ENST00000589420.1_Intron NM_001166012.1 NP_001159484.1 Q86W11 ZSC30_HUMAN zinc finger and SCAN domain containing 30 184 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|lung(3)|urinary_tract(1) 9 GGCTTCTCACCTCTCTCCTGGA 0.535 21 59 --- --- --- --- CBR3-AS1 100506428 broad.mit.edu 37 21 37518894 37518894 + RNA DEL T T - TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chr21:37518894delT ENST00000413862.1 - 0 79 CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000453159.1_RNA NR_038892.1 atttctgttcttttttttttt 0.448 2 4 --- --- --- --- RP3-368A4.5 0 broad.mit.edu 37 X 73423614 73423614 + RNA DEL A A - TCGA-86-8074-01A-11D-2238-08 TCGA-86-8074-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 699460ce-e908-4d17-8425-b7fca3bfbeb9 4b4655c7-8e74-41e5-addb-112ad0689559 g.chrX:73423614delA ENST00000603037.1 - 0 346 CTCATCTACCAAAAACCTGGC 0.493 2 4 --- --- --- ---