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 ZNF491 126069 broad.mit.edu 37 19 11917167 11917167 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:11917167T>G ENST00000323169.5 + 3 730 c.399T>G c.(397-399)tgT>tgG p.C133W ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 CTTATAAATGTAAGTTTTGTG 0.373000 8 105 0 0 1 0 0 RBM7 10179 broad.mit.edu 37 11 114272469 114272469 + Nonsense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:114272469C>T ENST00000544347.1 + 2 136 c.136C>T c.(136-138)Caa>Taa p.Q46* RBM7_ENST00000541475.1_Missense_Mutation_p.P49L|RBM7_ENST00000375490.5_Missense_Mutation_p.P49L|RBM7_ENST00000545678.1_Intron|RBM7_ENST00000540163.1_Missense_Mutation_p.P49L|RBM7_ENST00000544582.1_Missense_Mutation_p.P49L GATGGTAAACCAAAGCAGTTT 0.328000 3 40 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18635941 18635941 + Splice_Site SNP C C A rs151019079 byFrequency TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:18635941C>A ENST00000380548.4 + 6 941 c.602C>A c.(601-603)tCg>tAg p.S201* ADAMTSL1_ENST00000380566.4_Splice_Site_p.S201*|ADAMTSL1_ENST00000276935.6_Splice_Site_p.S201*|ADAMTSL1_ENST00000327883.7_Splice_Site_p.S201* NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 201 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCTCTCTAGCGGATGATACT 0.358000 4 69 0.0215528 0.0219641 1 1 0 KLHDC2 23588 broad.mit.edu 37 14 50238354 50238354 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:50238354G>A ENST00000298307.5 + 2 1057 c.196G>A c.(196-198)Gaa>Aaa p.E66K KLHDC2_ENST00000554589.1_Missense_Mutation_p.E66K|KLHDC2_ENST00000557247.1_Missense_Mutation_p.E66K|KLHDC2_ENST00000553538.1_3'UTR NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 66 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) TCTGCCTAGAGAAGAACTATG 0.358000 7 78 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6191156 6191156 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:6191156T>C ENST00000530810.1 - 1 482 c.401A>G c.(400-402)tAt>tGt p.Y134C RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTGTTGTATATCTCAGTGG 0.507000 3 56 0 0 1 0 0 SP2 6668 broad.mit.edu 37 17 45992745 45992745 + Silent SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:45992745C>A ENST00000376741.4 + 2 212 c.75C>A c.(73-75)tcC>tcA p.S25S AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 25 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 CTGCCGCCTCCACCACCCAGG 0.547000 6 126 0.00116845 0.00122825 1 1 0 SMC6 79677 broad.mit.edu 37 2 17898110 17898110 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:17898110T>C ENST00000448223.2 - 14 1513 c.1244A>G c.(1243-1245)gAg>gGg p.E415G SMC6_ENST00000402989.1_Missense_Mutation_p.E415G|SMC6_ENST00000351948.4_Missense_Mutation_p.E415G|SMC6_ENST00000381272.4_Missense_Mutation_p.E441G NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 415 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTTACTCTCTCTTTTAACCA 0.338000 8 93 0 0 1 0 0 CBS 875 broad.mit.edu 37 21 44474032 44474032 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr21:44474032G>C ENST00000398165.3 - 17 1873 c.1614C>G c.(1612-1614)gaC>gaG p.D538E CBS_ENST00000398168.1_Missense_Mutation_p.D552E|CBS_ENST00000359624.3_Missense_Mutation_p.D538E|CBS_ENST00000352178.5_Missense_Mutation_p.D538E|CBS_ENST00000544202.1_Missense_Mutation_p.D450E|CBS_ENST00000398158.1_Missense_Mutation_p.D538E NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 538 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) AGTTCAGCAAGTCAATGGCGG 0.662000 4 79 0 0 1 0 0 MBD2 8932 broad.mit.edu 37 18 51690899 51690899 + Missense_Mutation SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr18:51690899T>A ENST00000256429.3 - 5 1331 c.1103A>T c.(1102-1104)gAc>gTc p.D368V NM_003927.4 NP_003918.1 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 368 transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) TTACCTGATGTCTTCATCTGT 0.408000 4 67 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200193515 200193515 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:200193515C>T ENST00000443023.1 - 7 2580 c.1115G>A c.(1114-1116)cGc>cAc p.R372H SATB2_ENST00000417098.1_Missense_Mutation_p.R431H|SATB2_ENST00000457245.1_Missense_Mutation_p.R431H|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000260926.5_Missense_Mutation_p.R431H|SATB2_ENST00000428695.1_Missense_Mutation_p.R313H Q9UPW6 SATB2_HUMAN SATB homeobox 2 431 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity p.R431H(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTGGTAGATGCGATCTCGCTC 0.562000 9 31 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477253 110477253 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:110477253C>T ENST00000378402.5 + 49 8296 c.8192C>T c.(8191-8193)cCa>cTa p.P2731L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2731 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGGTTCTCCCATTTAGTGAA 0.453000 HNSCC(38;0.096) 5 98 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66947095 66947095 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:66947095G>T ENST00000299752.4 - 9 1186 c.993C>A c.(991-993)gaC>gaA p.D331E CDH16_ENST00000570262.1_Missense_Mutation_p.D251E|CDH16_ENST00000394055.3_Missense_Mutation_p.D331E|CDH16_ENST00000565796.1_Missense_Mutation_p.D331E|CDH16_ENST00000568632.1_Missense_Mutation_p.D234E NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 331 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TAGGCACGTTGTCATTCTCAT 0.597000 8 143 0.000157383 0.000168085 1 1 0 CPSF7 79869 broad.mit.edu 37 11 61196668 61196668 + Nonsense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:61196668C>A ENST00000340437.4 - 2 249 c.169G>T c.(169-171)Gag>Tag p.E57* CPSF7_ENST00000394888.4_Nonsense_Mutation_p.E14*|CPSF7_ENST00000439958.3_Nonsense_Mutation_p.E14*|CPSF7_ENST00000541963.1_Nonsense_Mutation_p.E14*|CPSF7_ENST00000448745.1_Nonsense_Mutation_p.E14* NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 14 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding p.E14Q(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 TTGAACTCCTCGTCAGCATAT 0.488000 15 167 6.94344e-10 7.72458e-10 1 1 0 SLC29A1 2030 broad.mit.edu 37 6 44197677 44197677 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:44197677G>A ENST00000393841.1 + 6 839 c.348G>A c.(346-348)ctG>ctA p.L116L SLC29A1_ENST00000371755.3_Silent_p.L116L|SLC29A1_ENST00000393844.1_Silent_p.L116L|SLC29A1_ENST00000371713.1_Silent_p.L116L|SLC29A1_ENST00000313248.7_Silent_p.L195L|SLC29A1_ENST00000371731.1_Silent_p.L116L|SLC29A1_ENST00000371724.1_Silent_p.L116L|SLC29A1_ENST00000371740.5_Silent_p.L116L|SLC29A1_ENST00000371708.1_Silent_p.L116L|SLC29A1_ENST00000427851.2_Silent_p.L116L|SLC29A1_ENST00000472176.1_3'UTR NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 116 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) TGGGCAGCCTGGTGGCCATCC 0.602000 5 31 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 69011861 69011861 + Silent SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr15:69011861A>G ENST00000543950.1 + 11 1620 c.1266A>G c.(1264-1266)ttA>ttG p.L422L CORO2B_ENST00000566799.1_Silent_p.L427L|CORO2B_ENST00000540068.1_Silent_p.L422L|CORO2B_ENST00000261861.5_Silent_p.L422L NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 427 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TAGATTTATTAGAAAATGTCC 0.393000 5 60 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9072189 9072189 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:9072189C>T ENST00000457346.2 - 14 1677 c.1603G>A c.(1603-1605)Gag>Aag p.E535K SCUBE2_ENST00000309263.3_Missense_Mutation_p.E506K|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E535K Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 506 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GGAAACAGCTCAGCATTTTTC 0.498000 7 111 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 438025 438025 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:438025C>G ENST00000338977.5 - 2 243 c.195G>C c.(193-195)caG>caC p.Q65H ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.Q77H|ZNF721_ENST00000506646.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 ATATTTTGCTCTGAGTATTTG 0.294000 9 81 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871674 51871674 + Silent SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:51871674T>A ENST00000371497.5 + 2 2564 c.1677T>A c.(1675-1677)ccT>ccA p.P559P TSHZ2_ENST00000329613.6_Silent_p.P556P|TSHZ2_ENST00000603338.2_Silent_p.P556P NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 559 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CGCCTTTGCCTATGGGATCCC 0.582000 4 87 0 0 1 0 0 C2orf57 165100 broad.mit.edu 37 2 232457829 232457829 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:232457829C>T ENST00000313965.2 + 1 255 c.167C>T c.(166-168)aCg>aTg p.T56M NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 56 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) TCCTTCAAGACGGCCACCCCC 0.542000 10 84 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144895519 144895519 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:144895519C>G ENST00000356994.2 - 6 535 c.529G>C c.(529-531)Gaa>Caa p.E177Q SCRIB_ENST00000377533.3_Missense_Mutation_p.E96Q|SCRIB_ENST00000320476.3_Missense_Mutation_p.E177Q NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 177 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TCCAGCTGTTCCAGCTTGACC 0.642000 14 54 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23557529 23557529 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:23557529G>C ENST00000300619.7 - 2 273 c.68C>G c.(67-69)tCt>tGt p.S23C ZNF91_ENST00000397082.2_Missense_Mutation_p.S23C|ZNF91_ENST00000599743.1_Missense_Mutation_p.S23C NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 23 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTCCTCCGGAGAGAATTCTAT 0.423000 5 153 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70205984 70205984 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr18:70205984G>T ENST00000269503.4 - 4 1154 c.381C>A c.(379-381)caC>caA p.H127Q CBLN2_ENST00000585159.1_Missense_Mutation_p.H127Q|CBLN2_ENST00000581073.1_Missense_Mutation_p.H13Q|CBLN2_ENST00000584764.1_Missense_Mutation_p.H11Q|CBLN2_ENST00000583651.1_5'UTR NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 127 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) CAAGATCAAAGTGGTTGCCAA 0.428000 9 60 0.000274275 0.000290601 1 1 0 DMXL1 1657 broad.mit.edu 37 5 118484935 118484935 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:118484935A>G ENST00000311085.8 + 18 3493 c.3413A>G c.(3412-3414)cAt>cGt p.H1138R DMXL1_ENST00000539542.1_Missense_Mutation_p.H1138R NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1138 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AACACAAAGCATTTAGTTCAC 0.363000 10 78 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16641716 16641716 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:16641716C>T ENST00000375592.3 - 2 414 c.198G>A c.(196-198)caG>caA p.Q66Q FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 66 F-box. autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TTTTGTGTTCCTGATACGGTG 0.438000 12 107 0 0 1 0 0 IRAK1BP1 134728 broad.mit.edu 37 6 79607896 79607896 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:79607896G>C ENST00000369940.2 + 4 733 c.628G>C c.(628-630)Gaa>Caa p.E210Q IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.E123Q NM_001010844.2 NP_001010844.1 Q5VVH5 IKBP1_HUMAN interleukin-1 receptor-associated kinase 1 binding protein 1 210 I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3) 12 all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223) BRCA - Breast invasive adenocarcinoma(397;0.21) AGAAACAAAAGAATGGGAAGG 0.388000 5 34 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136804281 136804281 + Missense_Mutation SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:136804281T>A ENST00000371851.1 - 2 590 c.265A>T c.(265-267)Agg>Tgg p.R89W VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Missense_Mutation_p.R89W|VAV2_ENST00000371850.3_Missense_Mutation_p.R89W P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 89 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) TCGCTGTTCCTTAATCCAAAT 0.473000 4 98 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32802653 32802653 + Nonsense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:32802653C>G ENST00000380250.3 + 40 5763 c.5267C>G c.(5266-5268)tCa>tGa p.S1756* NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1756 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GGGCTTAGTTCAAGCTCCACC 0.552000 12 155 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62198524 62198524 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:62198524G>A ENST00000467148.1 - 6 2256 c.2187C>T c.(2185-2187)caC>caT p.H729H HELZ2_ENST00000427522.2_Silent_p.H160H NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GCGCCACCTCGTGAGTCTCCT 0.657000 10 60 0 0 1 0 0 ZNF322 79692 broad.mit.edu 37 6 26637599 26637599 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:26637599C>G ENST00000415922.2 - 4 1828 c.1183G>C c.(1183-1185)Gcg>Ccg p.A395P ZNF322_ENST00000471278.1_Missense_Mutation_p.A395P NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding GCTTCTGACGCATGGGGAGGG 0.413000 10 191 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130216823 130216823 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:130216823G>T ENST00000323301.4 + 2 621 c.17G>T c.(16-18)cGg>cTg p.R6L LRSAM1_ENST00000373322.1_Missense_Mutation_p.R6L|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R6L|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R6L NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 6 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CTCTTCTTCCGGAAGCGGAAA 0.552000 4 34 0.014758 0.0151553 1 1 0 CSNK1D 1453 broad.mit.edu 37 17 80231196 80231196 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:80231196C>G ENST00000314028.6 - 1 411 c.62G>C c.(61-63)gGa>gCa p.G21A CSNK1D_ENST00000392334.2_Missense_Mutation_p.G21A|CSNK1D_ENST00000398519.5_Missense_Mutation_p.G21A NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 21 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) ATAGATGTCTCCGAAGGAGCC 0.726000 3 14 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158257809 158257809 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:158257809G>C ENST00000296526.7 + 11 2079 c.1754G>C c.(1753-1755)aGt>aCt p.S585T GRIA2_ENST00000449365.1_Missense_Mutation_p.S538T|GRIA2_ENST00000393815.2_Missense_Mutation_p.S538T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S538T|GRIA2_ENST00000264426.9_Missense_Mutation_p.S585T NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 585 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GAAACACAAAGTAGTGAATCA 0.423000 8 110 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24231668 24231668 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr3:24231668C>T ENST00000396671.2 - 5 528 c.180G>A c.(178-180)caG>caA p.Q60Q THRB_ENST00000416420.1_Silent_p.Q60Q|THRB_ENST00000356447.4_Silent_p.Q60Q NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 60 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TCCAAGTGGTCTGGATGAGAT 0.488000 10 125 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102494944 102494944 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:102494944C>T ENST00000321521.9 + 17 2405 c.1832C>T c.(1831-1833)tCt>tTt p.S611F PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S611F|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S611F O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 611 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GATAGTGACTCTCTGAGCAGT 0.418000 7 97 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32268212 32268212 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:32268212C>G ENST00000343380.5 - 2 411 c.272G>C c.(271-273)aGg>aCg p.R91T NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 91 Cyclin A/CDK2 binding. KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150). apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 CAGGTCCAGCCTCCGCTTCAC 0.622000 3 45 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10956418 10956418 + Silent SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:10956418T>A ENST00000283141.6 + 25 2402 c.2106T>A c.(2104-2106)ggT>ggA p.G702G NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 702 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ACTTGAACGGTTCTGCCATTC 0.348000 4 61 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325259 79325259 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:79325259A>G ENST00000428286.1 - 8 2054 c.854T>C c.(853-855)aTg>aCg p.M285T PRUNE2_ENST00000376718.3_Missense_Mutation_p.M644T Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 644 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGGTGGCCCCATGTGACCTGT 0.488000 8 131 0 0 1 0 0 GPR17 2840 broad.mit.edu 37 2 128409176 128409176 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:128409176C>T ENST00000544369.1 + 4 1562 c.951C>T c.(949-951)aaC>aaT p.N317N GPR17_ENST00000393018.3_Silent_p.N317N|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000272644.3_Silent_p.N317N|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 317 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) CCAGCCTCAACGGGGCACTCG 0.642000 8 57 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562366 140562366 + Missense_Mutation SNP A A C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:140562366A>C ENST00000361016.2 + 1 1387 c.232A>C c.(232-234)Aag>Cag p.K78Q NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 78 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGCAGCTCAAGGCTCAAAC 0.493000 5 47 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50550224 50550224 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:50550224T>G ENST00000595661.1 + 6 3019 c.2524T>G c.(2524-2526)Tat>Gat p.Y842D ZNF473_ENST00000270617.3_Missense_Mutation_p.Y842D|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.Y830D|ZNF473_ENST00000391821.2_Missense_Mutation_p.Y842D|ZNF473_ENST00000601364.1_Intron Q8WTR7 ZN473_HUMAN zinc finger protein 473 842 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GGAGACACTTTATCAGTGTCA 0.532000 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 80 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130897307 130897307 + Missense_Mutation SNP C C A rs148857930 byFrequency TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:130897307C>A ENST00000261655.4 - 15 2841 c.2678G>T c.(2677-2679)gGa>gTa p.G893V NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 893 SH3 2. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ACGGTAGAATCCATCAGCGTC 0.443000 12 30 0.00136819 0.00143258 1 1 0 GMPPB 29925 broad.mit.edu 37 3 49759438 49759438 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr3:49759438T>G ENST00000480687.1 - 9 1027 c.911A>C c.(910-912)gAg>gCg p.E304A AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.E304A|GMPPB_ENST00000308388.6_Missense_Mutation_p.E304A Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 304 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AATGCAGGACTCAAGCCAGGA 0.667000 4 47 0 0 1 0 0 GP9 2815 broad.mit.edu 37 3 128780823 128780823 + Missense_Mutation SNP G G A rs137994346 TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr3:128780823G>A ENST00000307395.4 + 3 463 c.241G>A c.(241-243)Gat>Aat p.D81N NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) 81 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) GCAGACCCTCGATGTGACGCA 0.687000 11 50 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 3 16 0 0 1 0 0 LOC286238 286238 broad.mit.edu 37 9 91262464 91262464 + RNA SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:91262464C>T ENST00000418343.2 - 0 287 TATCATCTCTCCTGTTTTGTA 0.433000 5 81 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156517 22156517 + Missense_Mutation SNP A A C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:22156517A>C ENST00000397126.4 - 4 1467 c.1319T>G c.(1318-1320)cTt>cGt p.L440R ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATGTTCCATAAGGTTTGAGGA 0.378000 6 110 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785391 111785391 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:111785391C>A ENST00000261726.6 + 22 3877 c.3723C>A c.(3721-3723)agC>agA p.S1241R NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1241 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TTGATCCAAGCGGGGGTCCTG 0.662000 26 65 2.44723e-14 2.76869e-14 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13885125 13885125 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:13885125G>C ENST00000265104.4 - 19 3060 c.2956C>G c.(2956-2958)Cat>Gat p.H986D CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 986 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGAGAGGAATGAATACGTTTG 0.443000 Kartagener syndrome 5 122 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77386148 77386148 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:77386148C>G ENST00000308488.6 - 14 3797 c.3495G>C c.(3493-3495)aaG>aaC p.K1165N RSF1_ENST00000360355.2_Missense_Mutation_p.K1134N|RSF1_ENST00000480887.1_Missense_Mutation_p.K913N Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1165 Arg-rich. CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TCTTTGGGGTCTTTCTTCGCA 0.453000 6 90 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57004431 57004431 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:57004431C>A ENST00000606794.1 - 1 244 c.48G>T c.(46-48)caG>caT p.Q16H NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 16 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CACACTCAGACTGGTTGTCTG 0.587000 11 113 6.42651e-13 7.24e-13 1 1 0 FAM179A 165186 broad.mit.edu 37 2 29274839 29274839 + Silent SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:29274839C>G ENST00000379558.4 + 20 3291 c.2940C>G c.(2938-2940)ctC>ctG p.L980L FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.L925L NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 980 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGCACGTCCTCAAGACGCTCC 0.637000 4 15 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25009316 25009316 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:25009316C>T ENST00000381989.3 - 31 4068 c.3963G>A c.(3961-3963)ccG>ccA p.P1321P NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1321 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AACCAACGGCCGGAGCCAAAA 0.483000 12 77 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5564656 5564656 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:5564656C>T ENST00000310917.2 - 22 4337 c.3606G>A c.(3604-3606)gaG>gaA p.E1202E EVC2_ENST00000344408.5_Silent_p.E1282E|EVC2_ENST00000344938.1_Intron NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1282 integral to membrane p.E1282D(1) NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GCAGTGAGATCTCTGGCTCCT 0.483000 12 168 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67572595 67572595 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:67572595C>T ENST00000540839.3 + 4 405 c.185C>T c.(184-186)cCg>cTg p.P62L CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000422602.2_Missense_Mutation_p.P62L|FAM65A_ENST00000428437.2_Missense_Mutation_p.P56L|FAM65A_ENST00000379312.3_Missense_Mutation_p.P46L|FAM65A_ENST00000042381.4_Missense_Mutation_p.P42L Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 46 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GTCTTCAGCCCGCCGGGGCCC 0.677000 3 78 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19805732 19805732 + Missense_Mutation SNP A A T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:19805732A>T ENST00000311322.8 + 2 600 c.130A>T c.(130-132)Agg>Tgg p.R44W LPL_ENST00000521994.1_3'UTR NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 44 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) ATTTGCCCTAAGGACCCCTGA 0.438000 7 112 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45431921 45431921 + Silent SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:45431921C>G ENST00000361462.2 + 1 480 c.297C>G c.(295-297)ctC>ctG p.L99L FAM179B_ENST00000382233.2_Silent_p.L99L|FAM179B_ENST00000361577.3_Silent_p.L99L Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 99 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 ACACTCGGCTCCTTCAACTCC 0.642000 6 88 0 0 1 0 0 FBRS 64319 broad.mit.edu 37 16 30680914 30680914 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:30680914C>T ENST00000356166.6 + 18 3979 c.2891C>T c.(2890-2892)cCc>cTc p.P964L FBRS_ENST00000395073.2_Intron|FBRS_ENST00000568722.1_Missense_Mutation_p.P356L|FBRS_ENST00000287468.5_Missense_Mutation_p.P444L Q9HAH7 FBRS_HUMAN fibrosin 444 ovary(1) 1 Colorectal(24;0.103) GTGCCCGCCCCCCGGCCCAGT 0.701000 4 80 0 0 1 0 0 COQ3 51805 broad.mit.edu 37 6 99828202 99828202 + Silent SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:99828202T>C ENST00000254759.3 - 3 273 c.249A>G c.(247-249)agA>agG p.R83R COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 83 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) TACTGTACAGTCTCGCCCAAG 0.428000 4 38 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43251345 43251345 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:43251345C>T ENST00000259750.4 + 14 2950 c.2867C>T c.(2866-2868)gCt>gTt p.A956V NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 956 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GAGTTCAGCGCTGGGGGCGAG 0.627000 9 57 0 0 1 0 0 FCHSD2 9873 broad.mit.edu 37 11 72726931 72726931 + Splice_Site SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:72726931C>G ENST00000409314.1 - 4 334 c.e4-1 FCHSD2_ENST00000409853.1_Splice_Site|FCHSD2_ENST00000409418.4_Splice_Site|FCHSD2_ENST00000458644.2_Splice_Site|FCHSD2_ENST00000311172.7_Splice_Site O94868 FCSD2_HUMAN FCH and double SH3 domains 2 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TCTGCATACCCTGttaaaaaa 0.313000 3 20 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135352302 135352302 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr10:135352302G>T ENST00000463117.2 + 11 1588 c.1316G>T c.(1315-1317)gGa>gTa p.G439V SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.G439V P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 439 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding p.G439V(1) NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GTGTGTGCTGGAGAAGGCCTG 0.468000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 25 153 1.06801e-11 1.19815e-11 1 1 0 BRCA1 672 broad.mit.edu 37 17 41244457 41244457 + Missense_Mutation SNP T T C rs80357647 TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:41244457T>C ENST00000309486.4 - 9 3230 c.2203A>G c.(2203-2205)Att>Gtt p.I735V BRCA1_ENST00000357654.3_Missense_Mutation_p.I1031V|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.I984V|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.I1031V|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.I1031V|BRCA1_ENST00000354071.3_Missense_Mutation_p.I1031V NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1031 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TTTTCTCTAATGTTATTACGG 0.368000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 11 160 0 0 1 0 0 VAPB 9217 broad.mit.edu 37 20 57014066 57014066 + Silent SNP A A T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:57014066A>T ENST00000475243.1 + 4 719 c.381A>T c.(379-381)gcA>gcT p.A127A VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 127 cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) AATTGCCAGCAGAGAATGATA 0.299000 15 108 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558398 140558398 + Silent SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:140558398G>C ENST00000239444.2 + 1 1028 c.783G>C c.(781-783)ctG>ctC p.L261L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 261 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAAGCTTCCTGGTTGTGAAGG 0.438000 11 172 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158850771 158850771 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:158850771A>G ENST00000367097.3 + 3 1742 c.385A>G c.(385-387)Agt>Ggt p.S129G TULP4_ENST00000367094.2_Missense_Mutation_p.S129G NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 129 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCCCAAGGTGAGTGATTTCAC 0.408000 11 162 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135323399 135323399 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:135323399C>T ENST00000285968.6 + 38 5386 c.5360C>T c.(5359-5361)tCa>tTa p.S1787L NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1787 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CCTAGCCTTTCAGAAACAGTT 0.423000 7 143 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77297720 77297720 + Splice_Site SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:77297720T>A ENST00000393774.3 + 3 514 c.e3+2 C14orf166B_ENST00000460005.1_Splice_Site|C14orf166B_ENST00000450042.2_Splice_Site NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GCCCTGGTGGTGAGCATGCTA 0.577000 4 46 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7980484 7980484 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:7980484C>A ENST00000246024.2 - 4 577 c.362G>T c.(361-363)cGt>cTt p.R121L TMX4_ENST00000530935.1_5'UTR NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 121 Thioredoxin. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 GCCACGATAACGGCGGAATAT 0.383000 3 54 0.00909568 0.00937663 1 1 0 ENGASE 64772 broad.mit.edu 37 17 77079895 77079895 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:77079895T>G ENST00000579016.1 + 10 1304 c.1304T>G c.(1303-1305)tTg>tGg p.L435W ENGASE_ENST00000584568.1_3'UTR NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 435 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 ATCCAGCCCTTGTTTGGAGAA 0.652000 5 80 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49219061 49219061 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:49219061C>G ENST00000327979.2 - 13 1606 c.1195G>C c.(1195-1197)Gag>Cag p.E399Q FAM65C_ENST00000535356.1_Missense_Mutation_p.E403Q|FAM65C_ENST00000045083.2_Missense_Mutation_p.E399Q Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 399 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCAGGCAGCTCCTGACTCTGG 0.632000 11 61 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49643021 49643021 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:49643021G>C ENST00000334186.4 + 17 2522 c.2173G>C c.(2173-2175)Gag>Cag p.E725Q PPFIA3_ENST00000602351.1_Missense_Mutation_p.E725Q NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 725 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TGCCCGTCTTGAGAGAATGAC 0.647000 11 37 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158647621 158647621 + Silent SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:158647621A>G ENST00000368147.4 - 7 996 c.816T>C c.(814-816)gaT>gaC p.D272D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTCAGTCACATCCCTGCAGT 0.488000 6 39 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155098558 155098558 + Silent SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:155098558C>G ENST00000392825.3 + 5 894 c.327C>G c.(325-327)gtC>gtG p.V109V GALNT13_ENST00000409237.1_Silent_p.V109V NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 109 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AGACAAAAGTCTACCCTGATG 0.328000 3 52 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768406 88768406 + RNA SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr10:88768406G>A ENST00000444431.1 + 0 3006 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AAAGCGAAGTGGGAAATGGCT 0.473000 40 335 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120572181 120572181 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:120572181C>A ENST00000300648.6 - 53 7243 c.7231G>T c.(7231-7233)Gtg>Ttg p.V2411L NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2411 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCCTGAATCACAAACCTCAGG 0.622000 4 90 3.59834e-05 3.90551e-05 1 1 0 ZNF334 55713 broad.mit.edu 37 20 45130360 45130360 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:45130360A>G ENST00000457685.2 - 6 2827 c.1504T>C c.(1504-1506)Tgg>Cgg p.W502R ZNF334_ENST00000593880.1_Missense_Mutation_p.W563R|ZNF334_ENST00000347606.4_Missense_Mutation_p.W540R Q9HCZ1 ZN334_HUMAN zinc finger protein 334 540 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) GGTCTCTCCCATATAGTTCTC 0.448000 11 199 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34666944 34666944 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr10:34666944C>A ENST00000374789.3 - 10 1815 c.1490G>T c.(1489-1491)gGg>gTg p.G497V PARD3_ENST00000374788.3_Missense_Mutation_p.G497V|PARD3_ENST00000374794.3_Missense_Mutation_p.G453V|PARD3_ENST00000350537.4_Missense_Mutation_p.G497V|PARD3_ENST00000346874.4_Missense_Mutation_p.G497V|PARD3_ENST00000545260.1_Missense_Mutation_p.G453V|PARD3_ENST00000374790.3_Missense_Mutation_p.G453V|PARD3_ENST00000374776.1_Missense_Mutation_p.G497V|PARD3_ENST00000340077.5_Missense_Mutation_p.G497V|PARD3_ENST00000544292.1_Missense_Mutation_p.G227V|PARD3_ENST00000374773.1_Missense_Mutation_p.G497V|PARD3_ENST00000545693.1_Missense_Mutation_p.G497V NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 497 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AATGGCCGCCCCCCGGGGGAG 0.478000 8 118 0.000157383 0.000168085 1 1 0 REG1A 5967 broad.mit.edu 37 2 79349237 79349237 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:79349237C>T ENST00000233735.1 + 4 410 c.307C>T c.(307-309)Cat>Tat p.H103Y NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 103 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GATTGGCCTCCATGACCCCAA 0.502000 9 74 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168408 142168408 + RNA SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:142168408C>T ENST00000454561.2 - 0 515 GATACAGGGCCGAGTCGTCCA 0.512000 9 140 0 0 1 0 0 SERPINI1 5274 broad.mit.edu 37 3 167512415 167512415 + Silent SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr3:167512415T>C ENST00000295777.5 + 5 1115 c.684T>C c.(682-684)ttT>ttC p.F228F SERPINI1_ENST00000446050.2_Silent_p.F228F NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 228 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TAGGGGAATTTAGTGATGGCT 0.398000 9 52 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7682263 7682263 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:7682263C>T ENST00000446248.2 + 17 3446 c.3345C>T c.(3343-3345)cgC>cgT p.R1115R CAMSAP3_ENST00000160298.4_Silent_p.R1088R NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 1088 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CTGGAAGCCGCGAACGGGACT 0.632000 4 62 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114789775 114789775 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:114789775G>A ENST00000334062.7 - 8 781 c.660C>T c.(658-660)gaC>gaT p.D220D RASA3_ENST00000389544.4_Silent_p.D188D|RASA3_ENST00000542651.1_3'UTR NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 220 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GCTTGTCCACGTCTTCCTCCT 0.527000 63 311 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117450860 117450860 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:117450860T>C ENST00000160373.3 - 3 464 c.373A>G c.(373-375)Atg>Gtg p.M125V NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 125 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGTGCGGACATCCTTTCTTGC 0.498000 15 222 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30325696 30325696 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr21:30325696C>A ENST00000389194.2 - 17 3225 c.3220G>T c.(3220-3222)Gca>Tca p.A1074S LTN1_ENST00000361371.5_Missense_Mutation_p.A1028S NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1028 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AGCAGTTCTGCAACTAAAAGA 0.348000 4 92 1 1 1 1 0 TTC12 54970 broad.mit.edu 37 11 113235702 113235702 + Silent SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:113235702T>G ENST00000529221.1 + 21 2067 c.1962T>G c.(1960-1962)ctT>ctG p.L654L TTC12_ENST00000314756.3_Silent_p.L654L|TTC12_ENST00000483239.2_Silent_p.L660L|TTC12_ENST00000393020.1_Intron NM_017868.3 NP_060338.3 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 654 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGTTAAAGCTTGCAGGCAGTG 0.582000 3 67 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11096952 11096952 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:11096952G>T ENST00000358026.2 + 4 727 c.443G>T c.(442-444)gGg>gTg p.G148V SMARCA4_ENST00000344626.4_Missense_Mutation_p.G148V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G148V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G148V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G148V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G148V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G148V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G148V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G148V NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 148 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ATGTCTTCCGGGCCAGGAGGT 0.652000 """F, N, Mis""" NSCLC 3 36 0.115264 0.116134 1 1 0 OR4M2 390538 broad.mit.edu 37 15 22369239 22369239 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr15:22369239C>T ENST00000332663.2 + 1 762 c.664C>T c.(664-666)Ctg>Ttg p.L222L RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGCCTTCCTTCTGGCCTTGTT 0.478000 15 237 0 0 1 0 0 SNAPC3 6619 broad.mit.edu 37 9 15453176 15453176 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:15453176A>G ENST00000380821.3 + 7 1129 c.953A>G c.(952-954)gAa>gGa p.E318G SNAPC3_ENST00000380799.1_Missense_Mutation_p.E115G NM_001039697.1 NP_001034786.1 Q92966 SNPC3_HUMAN small nuclear RNA activating complex, polypeptide 3, 50kDa 318 regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(2) 12 GBM - Glioblastoma multiforme(50;2.15e-06) GGAGACTGTGAACATGTCATT 0.348000 23 162 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83289626 83289626 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:83289626T>G ENST00000549919.1 + 4 2471 c.666T>G c.(664-666)atT>atG p.I222M TMTC2_ENST00000548305.1_Missense_Mutation_p.I228M|TMTC2_ENST00000321196.3_Missense_Mutation_p.I228M Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 228 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 TCCTAAGCATTAGTTTGTTAA 0.428000 5 103 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183095852 183095852 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:183095852C>G ENST00000435564.1 - 5 672 c.472G>C c.(472-474)Gat>Cat p.D158H PDE1A_ENST00000351439.5_Missense_Mutation_p.D142H|PDE1A_ENST00000358139.2_Missense_Mutation_p.D158H|PDE1A_ENST00000331935.6_Missense_Mutation_p.D158H|PDE1A_ENST00000409365.1_Missense_Mutation_p.D142H|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.D158H|PDE1A_ENST00000346717.4_Missense_Mutation_p.D124H|PDE1A_ENST00000536095.1_Missense_Mutation_p.D54H|PDE1A_ENST00000410103.1_Missense_Mutation_p.D158H NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 158 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) GACCATTTATCAACATCCTGT 0.323000 8 169 0 0 1 0 0 FEZ1 9638 broad.mit.edu 37 11 125333378 125333378 + Splice_Site SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:125333378A>G ENST00000278919.3 - 4 733 c.e4+1 FEZ1_ENST00000527350.1_Intron NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) AGATACTTATACCTGATCTGC 0.433000 6 86 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8200753 8200753 + Missense_Mutation SNP A A T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:8200753A>T ENST00000162391.3 + 7 2238 c.1093A>T c.(1093-1095)Atg>Ttg p.M365L FOXJ2_ENST00000428177.2_Missense_Mutation_p.M365L NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 365 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TGTAATGGCCATGCATCCACC 0.647000 5 49 0 0 1 0 0 STARD10 10809 broad.mit.edu 37 11 72469644 72469644 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:72469644G>A ENST00000334805.6 - 4 1309 c.390C>T c.(388-390)gtC>gtT p.V130V STARD10_ENST00000543304.1_Silent_p.V130V|STARD10_ENST00000545082.1_Silent_p.V101V|STARD10_ENST00000538536.1_Silent_p.V84V|STARD10_ENST00000538437.1_5'UTR|ARAP1_ENST00000359373.5_Intron NM_006645.2 NP_006636.2 Q9Y365 PCTL_HUMAN StAR-related lipid transfer (START) domain containing 10 130 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) GGAGGGTGATGACATCACGGT 0.592000 4 35 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50753032 50753032 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:50753032C>T ENST00000440075.2 + 14 1655 c.1608C>T c.(1606-1608)ctC>ctT p.L536L MYH14_ENST00000596571.1_Silent_p.L528L|MYH14_ENST00000262269.8_Silent_p.L536L|MYH14_ENST00000598205.1_Silent_p.L536L|MYH14_ENST00000425460.1_Silent_p.L536L|MYH14_ENST00000376970.2_Silent_p.L528L|MYH14_ENST00000601313.1_Silent_p.L536L Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 528 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGACCTTCCTCGACTTTGGCC 0.622000 32 98 0 0 1 0 0 OSCP1 127700 broad.mit.edu 37 1 36883757 36883757 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:36883757T>C ENST00000356637.5 - 11 1216 c.1153A>G c.(1153-1155)Atg>Gtg p.M385V OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000315643.9_Missense_Mutation_p.M335V|OSCP1_ENST00000433045.2_Missense_Mutation_p.M330V|OSCP1_ENST00000235532.5_Missense_Mutation_p.M375V Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 385 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 TCATCCATCATGGCGAGCAAA 0.597000 3 35 0 0 1 0 0 QRFP 347148 broad.mit.edu 37 9 133768915 133768915 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:133768915G>A ENST00000343079.1 - 1 310 c.311C>T c.(310-312)gCg>gTg p.A104V NM_198180.1 NP_937823.1 P83859 OX26_HUMAN pyroglutamylated RFamide peptide 104 locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior extracellular region neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding cervix(1)|endometrium(3)|lung(1)|skin(2) 7 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267) CTTCTCCCCCGCAGCAGGGAG 0.652000 9 135 0 0 1 0 0 FASTKD1 79675 broad.mit.edu 37 2 170394620 170394620 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:170394620C>T ENST00000453153.2 - 11 2323 c.1977G>A c.(1975-1977)caG>caA p.Q659Q FASTKD1_ENST00000453929.2_Intron|FASTKD1_ENST00000495505.1_5'UTR NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 659 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 TAAGATGAAACTGGACTCTTG 0.353000 9 168 0 0 1 0 0 TRMT5 57570 broad.mit.edu 37 14 61442276 61442276 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:61442276T>C ENST00000261249.6 - 4 1745 c.1361A>G c.(1360-1362)aAt>aGt p.N454S RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 454 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) TGGGGCCACATTTCTTACCAG 0.493000 13 70 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718514 142718514 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chrX:142718514C>T ENST00000381779.4 - 2 636 c.411G>A c.(409-411)caG>caA p.Q137Q SLITRK4_ENST00000338017.4_Silent_p.Q137Q|SLITRK4_ENST00000356928.1_Silent_p.Q137Q NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 137 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGTAGTCAGCCTGGAGATACT 0.388000 4 108 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121498354 121498354 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:121498354G>A ENST00000260197.7 + 47 6584 c.6455G>A c.(6454-6456)gGg>gAg p.G2152E SORL1_ENST00000525532.1_Missense_Mutation_p.G1096E|SORL1_ENST00000527934.1_Missense_Mutation_p.G767E|SORL1_ENST00000532694.1_Missense_Mutation_p.G998E|SORL1_ENST00000534286.1_Missense_Mutation_p.G1062E NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2152 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTGAGCCTGGGGGTGGGGTTT 0.602000 7 95 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125078729 125078729 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:125078729T>G ENST00000522917.1 + 27 3822 c.3616T>G c.(3616-3618)Tct>Gct p.S1206A FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.S1206A NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1206 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGCAGATGAATCTGCTGAAAA 0.488000 13 173 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85645708 85645708 + Nonsense_Mutation SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:85645708T>A ENST00000322366.6 - 45 7668 c.7261A>T c.(7261-7263)Aaa>Taa p.K2421* WDFY3_ENST00000295888.4_Nonsense_Mutation_p.K2438* Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2438 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TAGTACTCTTTACTGTCATAA 0.428000 6 87 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72204788 72204788 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:72204788C>T ENST00000305425.4 - 3 1454 c.1032G>A c.(1030-1032)atG>atA p.M344I DACH1_ENST00000359684.2_Missense_Mutation_p.M344I|DACH1_ENST00000313174.7_Missense_Mutation_p.M344I|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 342 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TTTTCACCTTCATTGCTTcag 0.408000 20 189 0 0 1 0 0 NDUFV2 4729 broad.mit.edu 37 18 9126853 9126853 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr18:9126853G>C ENST00000400033.1 + 8 730 c.613G>C c.(613-615)Gaa>Caa p.E205Q RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.E202Q|RP11-143J12.2_ENST00000582375.1_RNA P19404 NDUV2_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 202 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|lung(4)|ovary(1)|stomach(1) 7 NADH(DB00157) TAAGGATATTGAAGAAATTAT 0.313000 24 135 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77412858 77412858 + Silent SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:77412858A>G ENST00000308488.6 - 6 1718 c.1416T>C c.(1414-1416)taT>taC p.Y472Y RSF1_ENST00000360355.2_Silent_p.Y441Y|RSF1_ENST00000480887.1_Silent_p.Y220Y Q96T23 RSF1_HUMAN remodeling and spacing factor 1 472 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TAGAGGGGCTATAGCTCTCTT 0.383000 5 87 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89816305 89816305 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:89816305C>G ENST00000389301.3 - 32 3102 c.3072G>C c.(3070-3072)atG>atC p.M1024I FANCA_ENST00000568369.1_Missense_Mutation_p.M1024I NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1024 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding p.M1024fs*4(1) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GGTCAGCTACCATCTCCTGAA 0.607000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 56 0 0 1 0 0 PLA2G4B 100137049 broad.mit.edu 37 15 42137934 42137934 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr15:42137934A>G ENST00000542534.2 + 20 2189 c.2149A>G c.(2149-2151)Atg>Gtg p.M717V PLA2G4B_ENST00000458483.1_Missense_Mutation_p.M486V|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.M486V|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.M717V|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.M717V NM_005090.3 NP_005081.1 phospholipase A2, group IVB (cytosolic) all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371) GGGGCAGCTGATGAAGAGGCT 0.597000 3 53 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49219081 49219081 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:49219081C>G ENST00000327979.2 - 13 1586 c.1175G>C c.(1174-1176)aGc>aCc p.S392T FAM65C_ENST00000535356.1_Missense_Mutation_p.S396T|FAM65C_ENST00000045083.2_Missense_Mutation_p.S392T Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 392 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTTCTTAGGCTGGGACCCCG 0.627000 11 61 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065380 23065380 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:23065380C>G ENST00000246006.4 - 1 1597 c.1450G>C c.(1450-1452)Gag>Cag p.E484Q NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 484 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) CCTTTGTCCTCCTCATCGGGG 0.657000 3 58 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170628216 170628216 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:170628216C>T ENST00000513761.1 + 11 2507 c.1948C>T c.(1948-1950)Cat>Tat p.H650Y CLCN3_ENST00000504131.2_Missense_Mutation_p.H633Y|CLCN3_ENST00000347613.4_Missense_Mutation_p.H650Y|CLCN3_ENST00000360642.3_Missense_Mutation_p.H623Y NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 650 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) AGAATTCACTCATACCACCCT 0.443000 10 71 0 0 1 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971219 45971219 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr21:45971219G>A ENST00000391621.1 - 1 169 c.123C>T c.(121-123)ccC>ccT p.P41P KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 41 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(4)|skin(1) 6 GGGTCAGGCAGGGGGCTGGGG 0.692000 5 70 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44153382 44153382 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:44153382G>A ENST00000223357.3 + 21 3304 c.2999G>A c.(2998-3000)cGg>cAg p.R1000Q AEBP1_ENST00000450684.2_Missense_Mutation_p.R575Q NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 1000 Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AACGGGAACCGGCCTATCCCA 0.607000 6 118 0 0 1 0 0 RBP5 83758 broad.mit.edu 37 12 7281378 7281378 + Translation_Start_Site SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:7281378G>C ENST00000266560.3 - 0 160 RBP5_ENST00000542370.1_De_novo_Start_InFrame NM_031491.2 NP_113679.1 P82980 RET5_HUMAN retinol binding protein 5, cellular cytoplasm retinal binding|retinol binding|transporter activity autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1) 10 Vitamin A(DB00162) GCATTGTGTGGATGAAGGTTT 0.562000 3 6 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76393544 76393544 + Nonsense_Mutation SNP A A T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:76393544A>T ENST00000357063.3 + 14 3496 c.2236A>T c.(2236-2238)Aaa>Taa p.K746* LMO7_ENST00000321797.8_Nonsense_Mutation_p.K461*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.K746*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.K412*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.K461*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.K311* Q8WWI1 LMO7_HUMAN LIM domain 7 746 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TGCAAAATGGAAAGATCGTCG 0.398000 4 73 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999860 45999860 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr21:45999860C>A ENST00000400372.1 - 1 621 c.596G>T c.(595-597)tGc>tTc p.C199F TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 199 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 CTGCTGGCAGCATGAAGTGGA 0.637000 9 218 3.86212e-05 4.17484e-05 1 1 0 SLC6A14 11254 broad.mit.edu 37 X 115577926 115577926 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chrX:115577926T>G ENST00000371900.4 + 7 897 c.809T>G c.(808-810)cTt>cGt p.L270R NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 270 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TTTACAGCTCTTTTCCCCTAT 0.348000 10 93 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112924403 112924403 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:112924403G>A ENST00000374530.3 + 10 3384 c.3204G>A c.(3202-3204)gtG>gtA p.V1068V AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000259318.7_Intron|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000374525.1_Intron|AKAP2_ENST00000555236.1_Silent_p.V1068V|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000434623.2_Silent_p.V926V NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 827 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CTTGCAAGGTGACTTCCGAGG 0.458000 14 199 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48295472 48295472 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:48295472T>G ENST00000285737.4 + 5 954 c.861T>G c.(859-861)caT>caG p.H287Q LONP2_ENST00000535754.1_Missense_Mutation_p.H243Q NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 287 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AGCAGGCCCATAAAGTCTGTG 0.348000 5 77 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149447835 149447835 + Missense_Mutation SNP A A C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:149447835A>C ENST00000258484.6 + 2 240 c.206A>C c.(205-207)aAa>aCa p.K69T EPC2_ENST00000409654.1_Missense_Mutation_p.K69T NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 69 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) AGAGAAAAAAAAGAGAGTATG 0.363000 3 92 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20931928 20931928 + Silent SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:20931928G>C ENST00000261497.4 - 2 434 c.231C>G c.(229-231)ctC>ctG p.L77L USP22_ENST00000537526.2_Silent_p.L65L|USP22_ENST00000455117.2_5'UTR NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 77 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 AGACACAGTAGAGGCAGGAAT 0.537000 7 66 0 0 1 0 0 HINFP 25988 broad.mit.edu 37 11 119002618 119002618 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:119002618G>A ENST00000350777.2 + 5 665 c.602G>A c.(601-603)tGc>tAc p.C201Y HINFP_ENST00000527410.1_Missense_Mutation_p.C201Y|HINFP_ENST00000527354.1_3'UTR NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 201 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GTGGTAGCCTGCCCCACCTGT 0.547000 6 79 0 0 1 0 0 SMARCC1 6599 broad.mit.edu 37 3 47734738 47734738 + Silent SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr3:47734738C>A ENST00000254480.5 - 12 1337 c.1218G>T c.(1216-1218)gcG>gcT p.A406A SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 406 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TACCTAGATCCGCTACAGTTC 0.353000 8 96 5.68852e-11 6.35496e-11 1 1 0 PRRT2 112476 broad.mit.edu 37 16 29825231 29825231 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:29825231G>T ENST00000300797.6 + 2 1030 c.856G>T c.(856-858)Gtg>Ttg p.V286L PRRT2_ENST00000358758.7_Missense_Mutation_p.V286L|PRRT2_ENST00000567659.1_Missense_Mutation_p.V286L|AC009133.20_ENST00000569039.1_RNA Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 286 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 TGTCAACATCGTGGCCTTCGC 0.622000 5 77 0.000602214 0.000635539 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 131853320 131853320 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:131853320G>A ENST00000359827.3 - 22 4991 c.4029C>T c.(4027-4029)taC>taT p.Y1343Y PLXNA4_ENST00000321063.4_Silent_p.Y1343Y Q9HCM2 PLXA4_HUMAN plexin A4 1343 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCTCCTGCCGGTAGCCCGGGA 0.597000 3 25 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144809077 144809077 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:144809077G>C ENST00000388913.3 - 5 2679 c.2554C>G c.(2554-2556)Ctg>Gtg p.L852V NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 852 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCCAGCGGCAGAGGGCTGTCC 0.682000 5 19 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121258411 121258411 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr3:121258411T>G ENST00000264233.5 - 4 628 c.500A>C c.(499-501)aAa>aCa p.K167T NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 167 Helicase ATP-binding. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ACCGTCTACTTTTATTCCTAC 0.393000 DNA polymerases (catalytic subunits) 4 85 0 0 1 0 0 NDUFA10 4705 broad.mit.edu 37 2 240929491 240929491 + Splice_Site SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:240929491C>G ENST00000252711.2 - 9 1099 c.999G>C c.(997-999)gaG>gaC p.E333D NDUFA10_ENST00000307300.4_Splice_Site_p.E363D|NDUFA10_ENST00000404554.1_Splice_Site_p.E333D NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 333 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) ACAGTCTTACCTCTCTGAACT 0.468000 9 70 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52468277 52468277 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:52468277C>T ENST00000243644.4 - 5 1656 c.1429G>A c.(1429-1431)Ggc>Agc p.G477S HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 477 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) GCGAGGAGGCCGCTGATGTTT 0.512000 20 55 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349274 30349274 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:30349274C>A ENST00000327564.7 + 1 1251 c.1190C>A c.(1189-1191)cCa>cAa p.P397Q LRRC37B_ENST00000394713.3_Missense_Mutation_p.P370Q|LRRC37B_ENST00000341671.7_Missense_Mutation_p.P370Q|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P288Q|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P382Q Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 370 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CAGGAGGCCCCAATTCAGCCT 0.517000 10 192 2.17888e-05 2.37453e-05 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41561101 41561101 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr21:41561101C>T ENST00000400454.1 - 12 2898 c.2421G>A c.(2419-2421)atG>atA p.M807I NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 807 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCGTGCAGCTCATCTCCTTTT 0.502000 4 67 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588552 140588552 + Nonsense_Mutation SNP C C T rs142953283 by1000genomes TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:140588552C>T ENST00000239450.2 + 1 262 c.73C>T c.(73-75)Cag>Tag p.Q25* PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 25 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGAATGTCTCAGGCGGGCTC 0.488000 12 73 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79580458 79580458 + Translation_Start_Site SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:79580458G>A ENST00000539314.1 - 0 420 NPLOC4_ENST00000374747.5_Missense_Mutation_p.T91M|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000331134.6_Missense_Mutation_p.T91M Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGGAACTGACGTCTCCATTTC 0.507000 3 33 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919543 48919543 + Silent SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:48919543G>C ENST00000310194.1 + 1 129 c.129G>C c.(127-129)ctG>ctC p.L43L OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TGGAAAACCTGATGCTGCTGC 0.507000 24 96 0 0 1 0 0 HEXDC 284004 broad.mit.edu 37 17 80393672 80393672 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:80393672G>A ENST00000337014.6 + 6 1029 c.555G>A c.(553-555)gtG>gtA p.V185V HEXDC_ENST00000327949.9_Silent_p.V185V|HEXDC_ENST00000577944.1_Silent_p.V185V NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 185 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CCAGCGGCGTGAAGGCCCGGC 0.697000 7 92 0 0 1 0 0 ZBTB43 23099 broad.mit.edu 37 9 129595911 129595911 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:129595911T>C ENST00000373464.4 + 3 1387 c.1123T>C c.(1123-1125)Tgt>Cgt p.C375R ZBTB43_ENST00000449886.1_Missense_Mutation_p.C375R|ZBTB43_ENST00000373457.1_Missense_Mutation_p.C375R NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCTGTATCCTTGTCAGTGTGG 0.493000 4 72 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17873574 17873574 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:17873574G>A ENST00000594202.1 + 5 310 c.31G>A c.(31-33)Gag>Aag p.E11K FCHO1_ENST00000252771.7_Missense_Mutation_p.E11K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E18K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E11K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E11K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E11K|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000539407.1_Missense_Mutation_p.E11K|FCHO1_ENST00000596536.1_Missense_Mutation_p.E11K|FCHO1_ENST00000595033.1_5'UTR NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 11 FCH. NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CCTGCAGGGCGAGAAAAATCA 0.562000 8 94 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131181295 131181295 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:131181295C>G ENST00000357668.1 - 9 792 c.765G>C c.(763-765)ttG>ttC p.L255F ASAP1_ENST00000518721.1_Missense_Mutation_p.L255F Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 255 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CAGCTGTTTTCAAGCCATCTT 0.279000 3 52 0 0 1 0 0 CLP1 10978 broad.mit.edu 37 11 57426974 57426974 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:57426974A>G ENST00000533682.1 + 2 751 c.26A>G c.(25-27)aAg>aGg p.K9R CLP1_ENST00000529430.1_Missense_Mutation_p.K20R|CLP1_ENST00000302731.4_Missense_Mutation_p.K9R|CLP1_ENST00000525602.1_Missense_Mutation_p.K9R Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 9 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 AATGATGACAAGAAGCCAACC 0.418000 5 39 0 0 1 0 0 LY6G6D 58530 broad.mit.edu 37 6 31683389 31683389 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:31683389C>T ENST00000503322.1 + 5 916 c.913C>T c.(913-915)Cta>Tta p.L305L LY6G6F_ENST00000556581.1_Silent_p.L305L|LY6G6D_ENST00000375825.3_Silent_p.L56L ACAGATCAAGCTACCTGGAAA 0.597000 7 34 0 0 1 0 0 MRPS27 23107 broad.mit.edu 37 5 71530006 71530006 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:71530006G>C ENST00000261413.5 - 6 454 c.415C>G c.(415-417)Cca>Gca p.P139A MRPS27_ENST00000457646.4_Missense_Mutation_p.P83A|MRPS27_ENST00000515404.1_Missense_Mutation_p.P83A|MRPS27_ENST00000513900.1_Missense_Mutation_p.P153A|MRPS27_ENST00000522562.1_5'UTR NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 139 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) AAGTTATCTGGAAAAATTCCA 0.279000 7 59 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200534573 200534573 + Splice_Site SNP A A C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:200534573A>C ENST00000367350.4 - 24 4324 c.3886T>G c.(3886-3888)Ttg>Gtg p.L1296V NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1296 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 GATTGCTTACAGTTATCTTGA 0.333000 7 45 0 0 1 0 0 ALG11 440138 broad.mit.edu 37 13 52598548 52598548 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:52598548T>C ENST00000521508.1 + 3 687 c.682T>C c.(682-684)Ttt>Ctt p.F228L ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) CAGGAATCCTTTTCTCAGCAA 0.358000 12 191 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29375670 29375670 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:29375670C>T ENST00000320081.5 + 9 1396 c.1141C>T c.(1141-1143)Cat>Tat p.H381Y CLIP4_ENST00000401617.2_Missense_Mutation_p.H274Y|CLIP4_ENST00000401605.1_Missense_Mutation_p.H381Y|CLIP4_ENST00000404424.1_Missense_Mutation_p.H381Y NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 381 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TGACGTAGCTCATGTGACGTC 0.358000 12 65 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133447326 133447326 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:133447326C>T ENST00000266880.7 - 5 450 c.387G>A c.(385-387)atG>atA p.M129I CHFR_ENST00000315585.7_Missense_Mutation_p.M129I|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.M129I|CHFR_ENST00000432561.2_Missense_Mutation_p.M129I|CHFR_ENST00000443047.2_Intron Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 129 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) ATTCTTGTGTCATGCCTTGCT 0.413000 28 165 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 182322 182322 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:182322G>A ENST00000283426.6 + 18 3750 c.3700G>A c.(3700-3702)Gat>Aat p.D1234N NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1234 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CTGGTCATCTGATATCAGAGC 0.657000 7 43 0 0 1 0 0 PLAC8L1 153770 broad.mit.edu 37 5 145465065 145465065 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:145465065A>G ENST00000311450.4 - 3 409 c.352T>C c.(352-354)Ttt>Ctt p.F118L NM_001029869.1 NP_001025040.1 A1L4L8 PL8L1_HUMAN PLAC8-like 1 118 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCAGTGCAAAGGTGGACCCA 0.463000 11 60 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060729 9060729 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:9060729G>A ENST00000397910.4 - 3 26920 c.26717C>T c.(26716-26718)aCc>aTc p.T8906I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8908 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGTGAAGTGGTCACAGGTTC 0.488000 10 166 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36437643 36437643 + Silent SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:36437643T>C ENST00000373191.4 + 4 680 c.331T>C c.(331-333)Tta>Cta p.L111L AGO3_ENST00000324350.5_Silent_p.L111L|AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000397828.2_Silent_p.L111L NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 AGACGTTACTTTACCTGGGGA 0.368000 4 63 0 0 1 0 0 LOC81691 81691 broad.mit.edu 37 16 20835826 20835826 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:20835826C>T ENST00000261377.6 + 7 891 c.682C>T c.(682-684)Ctc>Ttc p.L228F AC004381.6_ENST00000348433.6_Missense_Mutation_p.L228F|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.L228F|AC004381.6_ENST00000567297.1_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 CAATAGTCCTCTCTTTGGACT 0.348000 4 70 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114454463 114454463 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:114454463C>G ENST00000394779.3 - 23 3729 c.3485G>C c.(3484-3486)gGg>gCg p.G1162A C9orf84_ENST00000374287.3_Missense_Mutation_p.G1201A|C9orf84_ENST00000318737.4_Missense_Mutation_p.G1201A|C9orf84_ENST00000394777.4_Missense_Mutation_p.G1127A NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 1201 I -> T (in dbSNP:rs1475110). breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGTATTCTGCCCTATATTAGA 0.368000 6 94 0 0 1 0 0 LRRC46 90506 broad.mit.edu 37 17 45913816 45913816 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:45913816G>A ENST00000269025.4 + 7 933 c.570G>A c.(568-570)ctG>ctA p.L190L NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 190 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 TCCCAGAGCTGAGTGGCCCAT 0.597000 5 42 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44859730 44859730 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr15:44859730C>T ENST00000261866.7 - 36 6662 c.6646G>A c.(6646-6648)Gaa>Aaa p.E2216K SPG11_ENST00000427534.2_Missense_Mutation_p.E2216K|SPG11_ENST00000535302.2_Missense_Mutation_p.E2103K NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2216 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TTGTGCTTTTCACTGTCTCCA 0.517000 4 50 0 0 1 0 0 OR7C1 26664 broad.mit.edu 37 19 14910947 14910947 + Translation_Start_Site SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:14910947A>G ENST00000248073.2 - 1 76 c.2T>C c.(1-3)aTg>aCg p.M1T OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 1 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 TCCTGTTTCCATGGGGATAAA 0.393000 7 143 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67663512 67663512 + Silent SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:67663512G>C ENST00000545606.1 + 1 452 c.15G>C c.(13-15)tcG>tcC p.S5S CAND1_ENST00000539109.1_3'UTR NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 5 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) CGAGCGCCTCGTACCACATTT 0.652000 6 38 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155242157 155242157 + Missense_Mutation SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:155242157T>A ENST00000357232.4 - 14 3028 c.3029A>T c.(3028-3030)aAg>aTg p.K1010M NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATCAAGTTCCTTAGAAAGAAA 0.363000 17 119 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73478029 73478029 + Splice_Site SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:73478029C>T ENST00000377110.3 - 3 501 c.e3-1 TRPM3_ENST00000377101.1_Splice_Site|TRPM3_ENST00000437699.3_Splice_Site|TRPM3_ENST00000357533.2_Splice_Site|TRPM3_ENST00000423814.3_Splice_Site|TRPM3_ENST00000360823.2_Splice_Site|TRPM3_ENST00000377111.2_Splice_Site|TRPM3_ENST00000377106.1_Splice_Site|TRPM3_ENST00000361823.5_Splice_Site|TRPM3_ENST00000396283.1_Splice_Site|TRPM3_ENST00000377105.1_Splice_Site Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ACAGCAACACCTATAACAGAA 0.478000 11 39 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6719357 6719357 + Silent SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:6719357C>A ENST00000245907.6 - 2 224 c.132G>T c.(130-132)ctG>ctT p.L44L NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 44 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CGTGGGCCTCCAGCACCATGG 0.577000 8 78 1.12685e-05 1.23307e-05 1 1 0 GOLGA6L3 100133220 broad.mit.edu 37 15 83014132 83014132 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr15:83014132C>G ENST00000557886.1 - 6 550 c.451G>C c.(451-453)Gag>Cag p.E151Q p.E151Q(4) endometrium(6)|kidney(5)|prostate(1) 12 GCTGGGGGCTCTGGGGCCAGG 0.522000 2 4 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164709194 164709194 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr3:164709194G>A ENST00000264382.3 - 44 5117 c.5055C>T c.(5053-5055)gtC>gtT p.V1685V NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1685 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GACCACCACGGACATGTAGGT 0.393000 HNSCC(35;0.089) 5 87 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37631847 37631847 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:37631847C>T ENST00000297153.7 - 2 1281 c.103G>A c.(103-105)Gca>Aca p.A35T MDGA1_ENST00000434837.3_Missense_Mutation_p.A35T|MDGA1_ENST00000505425.1_Missense_Mutation_p.A35T Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 35 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCACACATGCCTGGCCCGCA 0.607000 6 95 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153182004 153182004 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:153182004T>C ENST00000285900.5 + 15 2817 c.2474T>C c.(2473-2475)tTa>tCa p.L825S GRIA1_ENST00000518783.1_Missense_Mutation_p.L835S|GRIA1_ENST00000448073.4_Missense_Mutation_p.L835S|GRIA1_ENST00000521843.2_Missense_Mutation_p.L756S|GRIA1_ENST00000340592.5_Missense_Mutation_p.L825S|GRIA1_ENST00000518142.1_Missense_Mutation_p.L745S NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 825 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTGGTTGCCTTAATCGAGTTC 0.522000 7 171 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7663139 7663139 + Missense_Mutation SNP G G A rs112194246 TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:7663139G>A ENST00000572933.1 + 17 4128 c.2668G>A c.(2668-2670)Gca>Aca p.A890T DNAH2_ENST00000389173.2_Missense_Mutation_p.A890T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 890 Stem (By similarity). 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) GCAGACTTTGGCAGGTGTGGT 0.522000 6 208 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7689456 7689456 + Silent SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:7689456T>A ENST00000572933.1 + 40 7604 c.6144T>A c.(6142-6144)gtT>gtA p.V2048V DNAH2_ENST00000389173.2_Silent_p.V2048V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2048 AAA 2 (By similarity). 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) GGGAGACCGTTGAGCAGGAGA 0.522000 5 97 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416319 105416319 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:105416319G>C ENST00000333244.5 - 7 5588 c.5469C>G c.(5467-5469)ttC>ttG p.F1823L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1823 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGCATTTTGAACTTGCTGT 0.612000 62 490 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39678663 39678663 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:39678663C>G ENST00000265708.4 - 6 474 c.371G>C c.(370-372)aGt>aCt p.S124T ADAM2_ENST00000521880.1_Missense_Mutation_p.S124T|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.S124T|ADAM2_ENST00000379853.2_Missense_Mutation_p.S124T NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 124 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TATTCCATAACTAACATTTTC 0.318000 6 68 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2416678 2416678 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:2416678C>G ENST00000332578.3 + 11 1786 c.1786C>G c.(1786-1788)Ctg>Gtg p.L596V NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 596 Peptidase S1 2. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGCTGTCCTGGAGCTGGC 0.652000 4 49 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7647885 7647885 + Silent SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:7647885C>G ENST00000359156.4 - 6 1414 c.1212G>C c.(1210-1212)ctG>ctC p.L404L CD163_ENST00000541972.1_Silent_p.L392L|CD163_ENST00000396620.3_Silent_p.L404L|CD163_ENST00000432237.2_Silent_p.L404L NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 404 SRCR 4. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CAGCTTCTTTCAGTCCCCAGC 0.507000 4 111 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1017346 1017346 + Missense_Mutation SNP A A T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:1017346A>T ENST00000421673.2 - 31 5505 c.5455T>A c.(5455-5457)Tcc>Acc p.S1819T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1819 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTCTGGAAGGATGTTGCAGTG 0.572000 18 723 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409670 13409670 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:13409670C>T ENST00000360228.5 - 19 2776 c.2777G>A c.(2776-2778)gGg>gAg p.G926E CACNA1A_ENST00000573710.2_Missense_Mutation_p.G927E NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 927 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTGGGGGTCCCCGGCCTTGCC 0.771000 4 22 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44684959 44684959 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:44684959G>A ENST00000222673.5 + 3 298 c.256G>A c.(256-258)Gga>Aga p.G86R OGDH_ENST00000543843.1_Missense_Mutation_p.G26R|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Missense_Mutation_p.G86R|OGDH_ENST00000443864.2_Missense_Mutation_p.G86R|OGDH_ENST00000449767.1_Missense_Mutation_p.G86R|OGDH_ENST00000444676.1_Missense_Mutation_p.G86R NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 86 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) CACGAATGCCGGAGCCCCACC 0.577000 4 129 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107427325 107427325 + Silent SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:107427325G>T ENST00000340010.5 - 8 1102 c.918C>A c.(916-918)ggC>ggA p.G306G SLC26A3_ENST00000422236.2_Silent_p.G271G NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 306 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TAAAGTCACAGCCGTAGGATA 0.438000 7 97 0.00307968 0.00319951 1 1 0 NOTUM 147111 broad.mit.edu 37 17 79910868 79910868 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:79910868T>G ENST00000409678.3 - 11 1843 c.1460A>C c.(1459-1461)gAg>gCg p.E487A NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 487 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CCCCAGCAGCTCACTGGGCTC 0.652000 4 129 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558021 159558021 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:159558021C>T ENST00000255040.2 + 2 292 c.195C>T c.(193-195)gcC>gcT p.A65A NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 65 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TCTCTCGTGCCTACAGCCTCT 0.418000 6 133 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174230307 174230307 + Missense_Mutation SNP A A T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:174230307A>T ENST00000306721.3 + 7 1125 c.1022A>T c.(1021-1023)tAt>tTt p.Y341F CDCA7_ENST00000392567.2_Missense_Mutation_p.Y262F|CDCA7_ENST00000347703.3_Missense_Mutation_p.Y262F|CDCA7_ENST00000410101.3_Missense_Mutation_p.Y297F|CDCA7_ENST00000410019.3_Missense_Mutation_p.Y220F NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 262 Mediates transcriptional activity. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) GAGAAGATATATAACCGTTCA 0.463000 4 49 0 0 1 0 0 ANAPC7 51434 broad.mit.edu 37 12 110812022 110812022 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:110812022T>C ENST00000455511.3 - 11 1727 c.1727A>G c.(1726-1728)gAa>gGa p.E576G ANAPC7_ENST00000481473.1_5'UTR NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 576 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 CAGGTCCCCTTCTTCCCCACT 0.632000 4 60 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088946 86088946 + Missense_Mutation SNP C C T rs147368086 TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:86088946C>T ENST00000330753.4 + 2 1855 c.1088C>T c.(1087-1089)aCg>aTg p.T363M FLRT2_ENST00000554746.1_Missense_Mutation_p.T363M NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 363 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGTCCCACCACGACCCCCGGC 0.562000 5 146 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107289187 107289187 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:107289187A>G ENST00000277216.3 - 1 303 c.304T>C c.(304-306)Ttc>Ctc p.F102L NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 AACCCAAAGAACATCTGCACT 0.448000 6 130 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76813097 76813097 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chrX:76813097A>G ENST00000373344.5 - 30 6738 c.6524T>C c.(6523-6525)aTt>aCt p.I2175T ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I2137T NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2175 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CCGATCATAAATCTTATCTTC 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 19 49 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 1005690 1005690 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:1005690G>C ENST00000537687.1 + 24 7460 c.6817G>C c.(6817-6819)Gac>Cac p.D2273H WNK1_ENST00000340908.4_Missense_Mutation_p.D1606H|WNK1_ENST00000535572.1_Missense_Mutation_p.D1765H|WNK1_ENST00000315939.6_Missense_Mutation_p.D2013H|WNK1_ENST00000530271.2_Missense_Mutation_p.D2511H NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2013 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCCGTCTTCTGACCCGGAGGC 0.493000 7 104 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75672492 75672492 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:75672492C>T ENST00000356136.3 + 7 839 c.598C>T c.(598-600)Cat>Tat p.H200Y UVRAG_ENST00000528420.1_Missense_Mutation_p.H99Y|UVRAG_ENST00000533454.1_5'UTR NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 200 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TTCTAGGCTTCATAGAGCCCA 0.333000 4 68 0 0 1 0 0 ULK2 9706 broad.mit.edu 37 17 19741844 19741844 + Nonsense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:19741844G>A ENST00000395544.4 - 10 1256 c.757C>T c.(757-759)Cag>Tag p.Q253* ULK2_ENST00000361658.2_Nonsense_Mutation_p.Q253* NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 253 Protein kinase. signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TGGTTTCTCTGAAGCAAACCC 0.318000 10 83 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137623474 137623474 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:137623474G>C ENST00000371817.3 + 8 1711 c.1297G>C c.(1297-1299)Gga>Cga p.G433R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 433 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GATCGGGCCGGGAATGCCGGC 0.642000 5 35 0 0 1 0 0 CHCHD7 79145 broad.mit.edu 37 8 57127188 57127188 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:57127188C>A ENST00000523975.1 + 3 200 c.52C>A c.(52-54)Cag>Aag p.Q18K CHCHD7_ENST00000355315.3_Missense_Mutation_p.Q6K|CHCHD7_ENST00000519367.1_Missense_Mutation_p.Q6K|CHCHD7_ENST00000521831.1_Missense_Mutation_p.Q6K|CHCHD7_ENST00000396723.5_Missense_Mutation_p.Q15K|CHCHD7_ENST00000518801.1_Missense_Mutation_p.Q18K|CHCHD7_ENST00000521524.1_Missense_Mutation_p.Q18K|CHCHD7_ENST00000517933.1_Missense_Mutation_p.Q6K|CHCHD7_ENST00000523061.1_Missense_Mutation_p.Q6K|CHCHD7_ENST00000303759.3_Missense_Mutation_p.Q31K Q9BUK0 CHCH7_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 7 6 CHCH. CHCHD7/PLAG1(12) endometrium(1) 1 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00159)|all cancers(17;0.0112) CTCGGTAACACAGAGGCTGAG 0.363000 T PLAG1 salivary adenoma 4 70 5.9392e-07 6.57994e-07 1 1 0 CERCAM 51148 broad.mit.edu 37 9 131196706 131196706 + Missense_Mutation SNP A A C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:131196706A>C ENST00000372842.1 + 12 4259 c.1115A>C c.(1114-1116)cAg>cCg p.Q372P CERCAM_ENST00000372838.4_Missense_Mutation_p.Q450P Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 450 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 GGACGGAAGCAGGTGAACCCT 0.657000 5 54 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83320118 83320118 + Splice_Site SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chrX:83320118T>C ENST00000262752.2 - 21 1980 c.1973A>G c.(1972-1974)gAt>gGt p.D658G RPS6KA6_ENST00000543399.1_Splice_Site_p.D658G NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 658 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GGAAAGCAAATCCTAAATTAA 0.338000 12 41 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192760 152192760 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:152192760A>G ENST00000368801.2 - 3 1420 c.1345T>C c.(1345-1347)Tct>Cct p.S449P FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 449 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTGGAAGATCGACCAAAG 0.587000 9 170 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63091999 63091999 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:63091999A>G ENST00000263991.5 + 10 1478 c.996A>G c.(994-996)atA>atG p.I332M EHBP1_ENST00000431489.1_Missense_Mutation_p.I297M|EHBP1_ENST00000405289.1_Missense_Mutation_p.I297M|EHBP1_ENST00000405015.3_Missense_Mutation_p.I297M|EHBP1_ENST00000354487.3_Missense_Mutation_p.I297M NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 332 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TTGTGACCATAAAGGATTCTC 0.373000 8 131 0 0 1 0 0 FGD3 89846 broad.mit.edu 37 9 95792238 95792238 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:95792238C>G ENST00000375482.3 + 15 2136 c.1640C>G c.(1639-1641)tCc>tGc p.S547C FGD3_ENST00000538555.1_Missense_Mutation_p.S150C|FGD3_ENST00000416701.2_Missense_Mutation_p.S547C|FGD3_ENST00000337352.6_Missense_Mutation_p.S547C NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 547 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 ACCTTCAACTCCATCACCAAG 0.562000 3 45 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139736904 139736904 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:139736904G>T ENST00000303045.6 - 25 2647 c.2201C>A c.(2200-2202)cCt>cAt p.P734H COL22A1_ENST00000435777.1_Missense_Mutation_p.P734H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 734 Collagen-like 5.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GATCTCTCCAGGCAAACCCTG 0.592000 HNSCC(7;0.00092) 4 43 0.184627 0.185321 1 1 0 MARCH1 55016 broad.mit.edu 37 4 164507041 164507041 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:164507041T>C ENST00000503008.1 - 6 1259 c.283A>G c.(283-285)Aca>Gca p.T95A MARCH1_ENST00000274056.7_Missense_Mutation_p.T95A|MARCH1_ENST00000514618.1_Missense_Mutation_p.T351A|MARCH1_ENST00000339875.5_Missense_Mutation_p.T78A NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 95 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CGACAGGGTGTGATGAGGGGG 0.537000 10 49 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49218831 49218831 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:49218831C>G ENST00000327979.2 - 13 1836 c.1425G>C c.(1423-1425)gaG>gaC p.E475D FAM65C_ENST00000535356.1_Missense_Mutation_p.E479D|FAM65C_ENST00000045083.2_Missense_Mutation_p.E475D Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 475 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGCTGGGGCTCTCCCCTCCTA 0.682000 6 35 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160888683 160888683 + RNA SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:160888683G>T ENST00000335388.5 - 0 1573 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CCTGACGCTGGGGTCTGTGGT 0.537000 6 119 0.0215528 0.0219641 1 1 0 BACH2 60468 broad.mit.edu 37 6 90661094 90661094 + Missense_Mutation SNP T T A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:90661094T>A ENST00000257749.4 - 7 1438 c.731A>T c.(730-732)aAt>aTt p.N244I BACH2_ENST00000343122.3_Missense_Mutation_p.N244I|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.N244I|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 244 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TGATGATGCATTATAGACATT 0.493000 12 140 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926341 22926341 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:22926341C>A ENST00000261374.3 + 2 996 c.562C>A c.(562-564)Cct>Act p.P188T NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 188 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TCAAGAGGCTCCTCGACGCAT 0.562000 7 96 0.00198382 0.00206906 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16892177 16892177 + Silent SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:16892177G>C ENST00000430580.2 - 27 3902 c.3015C>G c.(3013-3015)tcC>tcG p.S1005S NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1005 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ATGCATAAAAGGAACTTCCAT 0.448000 14 1470 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8398038 8398038 + Missense_Mutation SNP C C T rs138563874 TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:8398038C>T ENST00000471889.1 + 7 2145 c.1760C>T c.(1759-1761)gCt>gTt p.A587V SLC45A1_ENST00000377479.2_Missense_Mutation_p.A621V|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A587V Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 587 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCCTTCAGTGCTGCCTTCTAC 0.602000 4 45 0 0 1 0 0 SNRPB 6628 broad.mit.edu 37 20 2443806 2443806 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:2443806C>A ENST00000339610.6 - 6 706 c.251G>T c.(250-252)gGg>gTg p.G84V SNRPB_ENST00000438552.2_Missense_Mutation_p.G163V|SNRPB_ENST00000381342.2_Missense_Mutation_p.G163V P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 163 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 GGTTGGAGCCCCGGCAATACT 0.597000 7 72 8.12818e-05 8.75091e-05 1 1 0 VMA21 203547 broad.mit.edu 37 X 150573406 150573406 + Missense_Mutation SNP A A G rs141926826 byFrequency TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chrX:150573406A>G ENST00000330374.6 + 3 287 c.182A>G c.(181-183)aAt>aGt p.N61S VMA21_ENST00000370361.1_Missense_Mutation_p.N116S|VMA21_ENST00000477649.1_3'UTR NM_001017980.3 NP_001017980.1 Q3ZAQ7 VMA21_HUMAN VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) 61 vacuolar proton-transporting V-type ATPase complex assembly COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 7 GGGATGTCCAATAGGGACAGC 0.418000 20 59 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101808524 101808524 + Missense_Mutation SNP T T A rs151188411 byFrequency TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr10:101808524T>A ENST00000370418.3 - 8 1472 c.1221A>T c.(1219-1221)gaA>gaT p.E407D NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 407 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CCAACGTTGGTTCCGCAGGAC 0.527000 21 76 0 0 1 0 0 TMEM255B 348013 broad.mit.edu 37 13 114498136 114498136 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:114498136G>A ENST00000375353.3 + 4 295 c.268G>A c.(268-270)Gtg>Atg p.V90M NM_182614.2 NP_872420.1 transmembrane protein 255B GGCAGCGATCGTGTTTATCAG 0.537000 4 37 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396176 38396176 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:38396176A>G ENST00000377698.3 + 2 584 c.431A>G c.(430-432)aAg>aGg p.K144R NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 144 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GAGGTCATCAAGGTGTATCGG 0.552000 4 111 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31457562 31457562 + Silent SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:31457562C>G ENST00000322054.5 + 1 360 c.75C>G c.(73-75)ctC>ctG p.L25L EHD3_ENST00000541626.1_Silent_p.L25L NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 25 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GTGAGGGGCTCAAGAAACTCT 0.637000 12 63 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562365 140562365 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:140562365C>T ENST00000361016.2 + 1 1386 c.231C>T c.(229-231)ctC>ctT p.L77L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 77 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTTGCAGCTCAAGGCTCAAA 0.493000 5 49 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58445019 58445019 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr20:58445019T>C ENST00000357552.3 - 36 3800 c.3575A>G c.(3574-3576)aAg>aGg p.K1192R SYCP2_ENST00000371001.2_Missense_Mutation_p.K1192R Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1192 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AGTATTACTCTTAGTTGGAGT 0.323000 3 62 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142574308 142574308 + Silent SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:142574308G>C ENST00000359396.3 - 6 860 c.615C>G c.(613-615)ctC>ctG p.L205L RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 205 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TGTTGGGCTGGAGGATGAGGA 0.572000 13 83 0 0 1 0 0 AIRE 326 broad.mit.edu 37 21 45706895 45706895 + Silent SNP G G A rs142788946 TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr21:45706895G>A ENST00000291582.5 + 3 469 c.342G>A c.(340-342)aaG>aaA p.K114K NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 114 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) AGGGGAGGAAGCCCCCGGCCG 0.677000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 6 51 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137713498 137713498 + Silent SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:137713498A>G ENST00000314358.5 + 4 764 c.564A>G c.(562-564)caA>caG p.Q188Q NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 188 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAAAGCTACAAGAGATATTCA 0.423000 5 46 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236740250 236740250 + Splice_Site SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:236740250C>G ENST00000366582.3 - 21 2870 c.e21-1 HEATR1_ENST00000366581.2_Splice_Site NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GATGTCACCACTAAAATCAAA 0.388000 5 73 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124096176 124096176 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr10:124096176C>T ENST00000368994.2 + 15 1685 c.1434C>T c.(1432-1434)acC>acT p.T478T BTBD16_ENST00000260723.4_Silent_p.T477T Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 477 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTGGGTTGACCACGTCATCCT 0.502000 5 50 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2336825 2336825 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr16:2336825G>C ENST00000301732.5 - 22 3848 c.3148C>G c.(3148-3150)Cca>Gca p.P1050A ABCA3_ENST00000382381.3_Missense_Mutation_p.P992A NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1050 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GCAGTGGCTGGAGAGTGGTAC 0.627000 6 121 0 0 1 0 0 BEST4 266675 broad.mit.edu 37 1 45251815 45251815 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:45251815G>A ENST00000372207.3 - 4 566 c.567C>T c.(565-567)acC>acT p.T189T NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 189 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) CCGCCAGGTTGGTGAACCAGA 0.562000 OREG0013447 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 141 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85399914 85399914 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr15:85399914A>G ENST00000258888.5 + 6 2718 c.2551A>G c.(2551-2553)Aag>Gag p.K851E NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 851 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACAAGAAAGCAAGAGGCCACA 0.537000 5 27 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695252 247695252 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:247695252G>T ENST00000366487.3 - 2 923 c.562C>A c.(562-564)Ctg>Atg p.L188M GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) ACACAAGCCAGTTGCATAATG 0.547000 3 32 0.004672 0.00483498 1 1 0 TWF1 5756 broad.mit.edu 37 12 44194324 44194324 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:44194324T>C ENST00000395510.2 - 4 421 c.292A>G c.(292-294)Aaa>Gaa p.K98E TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000325127.4_Missense_Mutation_p.K132E|TWF1_ENST00000548315.1_Missense_Mutation_p.K98E NM_001242397.1|NM_002822.4 NP_001229326.1|NP_002813.3 Q12792 TWF1_HUMAN twinfilin actin-binding protein 1 98 ADF-H 1. actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1) 14 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) TACAACATTTTTTGACGAACC 0.318000 12 75 0 0 1 0 0 SDAD1 55153 broad.mit.edu 37 4 76878504 76878504 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:76878504T>C ENST00000356260.5 - 20 1946 c.1828A>G c.(1828-1830)Aaa>Gaa p.K610E AC110615.1_ENST00000599764.1_Missense_Mutation_p.L87S|SDAD1_ENST00000395711.4_Missense_Mutation_p.K573E NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 610 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTGTCTCTTTGTCAGACTTT 0.373000 4 70 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 129062021 129062021 + Nonsense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr11:129062021G>A ENST00000310343.9 - 1 72 c.73C>T c.(73-75)Cag>Tag p.Q25* NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 25 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TCAGTCACCTGGATTATAACT 0.438000 10 137 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105353213 105353213 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:105353213G>A ENST00000453495.1 + 12 2868 c.2640G>A c.(2638-2640)gcG>gcA p.A880A CEP170B_ENST00000556508.1_Silent_p.A809A|CEP170B_ENST00000414716.3_Silent_p.A879A|CEP170B_ENST00000418279.1_Silent_p.A809A centrosomal protein 170B GTCCCCCAGCGCCCGGCAAGC 0.682000 5 46 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768622 31768622 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:31768622C>T ENST00000240587.4 - 2 2404 c.2077G>A c.(2077-2079)Gag>Aag p.E693K NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 693 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTCACCAGCTCCTTGCCATTC 0.647000 10 53 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101798598 101798598 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:101798598G>A ENST00000375001.3 + 21 2752 c.2329G>A c.(2329-2331)Gaa>Aaa p.E777K NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 777 Triple-helical region 3 (COL3). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TGACCAGGGAGAAAGGGGGAT 0.542000 3 51 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681824 100681824 + Missense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:100681824G>T ENST00000306151.4 + 3 7191 c.7127G>T c.(7126-7128)gGt>gTt p.G2376V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2376 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCTCAAGCCGGTTCATCTCCT 0.493000 15 300 2.23348e-06 2.46422e-06 1 1 0 ANGPT2 285 broad.mit.edu 37 8 6360674 6360674 + Nonsense_Mutation SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:6360674G>T ENST00000325203.5 - 9 1913 c.1439C>A c.(1438-1440)tCa>tAa p.S480* ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.S428*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.S479*|MCPH1_ENST00000344683.5_Intron O15123 ANGP2_HUMAN angiopoietin 2 480 Fibrinogen C-terminal. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) CGAATAGCCTGAGCCTTTCCA 0.443000 3 61 0.00024832 0.000264149 1 1 0 C7orf61 402573 broad.mit.edu 37 7 100061291 100061291 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:100061291T>C ENST00000332375.3 - 2 327 c.82A>G c.(82-84)Aaa>Gaa p.K28E TSC22D4_ENST00000496728.1_5'UTR NM_001004323.1 NP_001004323.1 Q8IZ16 CG061_HUMAN chromosome 7 open reading frame 61 28 central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1) 4 GGTTTAATTTTTTGCCTCCAG 0.478000 4 94 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 6 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32944544 32944544 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:32944544G>A ENST00000395289.2 + 7 2632 c.1031G>A c.(1030-1032)gGa>gAa p.G344E BRD2_ENST00000374825.4_Missense_Mutation_p.G344E|BRD2_ENST00000449085.2_Missense_Mutation_p.G297E|BRD2_ENST00000443797.2_Missense_Mutation_p.G224E|BRD2_ENST00000374831.4_Missense_Mutation_p.G344E|BRD2_ENST00000395287.1_Missense_Mutation_p.G344E P25440 BRD2_HUMAN bromodomain containing 2 344 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TCTAAGAAAGGAAAGCTTTCA 0.483000 7 116 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9236789 9236789 + Missense_Mutation SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:9236789C>T ENST00000305444.2 - 1 837 c.838G>A c.(838-840)Gtg>Atg p.V280M NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GGGGTGACCACGGTATACATC 0.468000 6 95 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15774321 15774321 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:15774321C>G ENST00000281172.5 - 21 2835 c.2399G>C c.(2398-2400)cGa>cCa p.R800P EPS8_ENST00000540613.1_Missense_Mutation_p.R540P|EPS8_ENST00000542903.1_Missense_Mutation_p.R540P|EPS8_ENST00000543523.1_Missense_Mutation_p.R800P|EPS8_ENST00000543612.1_Missense_Mutation_p.R800P NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 800 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TTTTTCCTGTCGTCTTCTCAT 0.403000 4 119 0 0 1 0 0 RAB4B-EGLN2 100529264 broad.mit.edu 37 19 41289874 41289874 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:41289874C>T ENST00000594136.1 + 5 429 c.324C>T c.(322-324)acC>acT p.T108T RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Silent_p.T108T|RAB4B_ENST00000357052.2_Silent_p.T108T|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR ATGCCCGCACCCTGGCCAGCC 0.632000 5 66 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202205096 202205096 + Missense_Mutation SNP T T G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:202205096T>G ENST00000367278.3 + 4 492 c.403T>G c.(403-405)Tgg>Ggg p.W135G LGR6_ENST00000439764.2_Missense_Mutation_p.W92G|LGR6_ENST00000255432.7_Missense_Mutation_p.W83G NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 135 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 AGAGGCGCTGTGGGAGCTGCC 0.617000 6 57 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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) 6 42 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108861219 108861219 + Missense_Mutation SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:108861219C>G ENST00000356922.4 - 2 2670 c.2398G>C c.(2398-2400)Gaa>Caa p.E800Q LIG4_ENST00000442234.1_Missense_Mutation_p.E800Q|LIG4_ENST00000405925.1_Missense_Mutation_p.E800Q NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 800 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TACCGATATTCTAAATCAGCA 0.398000 Non-homologous end-joining 4 78 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73460063 73460063 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:73460063G>A ENST00000556143.1 - 4 1711 c.991C>T c.(991-993)Cat>Tat p.H331Y ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H331Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H331Y NM_001281735.1|NM_021260.2 NP_001268664.1|NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 331 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) TCTGAGGGATGATCTATACAA 0.502000 3 34 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11833762 11833762 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:11833762A>G ENST00000341191.6 - 4 740 c.587T>C c.(586-588)tTg>tCg p.L196S ZNF823_ENST00000545749.1_Missense_Mutation_p.L14S NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 TTTCCCACACAACTTACATTT 0.423000 HNSCC(68;0.2) 12 121 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146651129 146651129 + RNA SNP C C G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:146651129C>G ENST00000607149.1 + 0 350 RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA TATTAGCTATCTACAACGAGA 0.398000 8 65 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94701005 94701005 + Splice_Site SNP G G T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:94701005G>T ENST00000304338.3 + 7 884 c.730G>T c.(730-732)Ggg>Tgg p.G244W NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 244 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CCAGGGCATTGGGTAGGTATA 0.368000 3 28 0.115264 0.116134 1 1 0 MAGI2 9863 broad.mit.edu 37 7 78636425 78636425 + Silent SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:78636425G>A ENST00000354212.4 - 2 652 c.399C>T c.(397-399)ctC>ctT p.L133L MAGI2_ENST00000419488.1_Silent_p.L133L|MAGI2_ENST00000522391.1_Silent_p.L133L NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 133 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGCGGAGGTAGAGGTTGTCAC 0.378000 5 82 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 52 0 0 1 0 0 CHCHD7 79145 broad.mit.edu 37 8 57127187 57127187 + Silent SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr8:57127187A>G ENST00000523975.1 + 3 199 c.51A>G c.(49-51)acA>acG p.T17T CHCHD7_ENST00000355315.3_Silent_p.T5T|CHCHD7_ENST00000519367.1_Silent_p.T5T|CHCHD7_ENST00000521831.1_Silent_p.T5T|CHCHD7_ENST00000396723.5_Silent_p.T14T|CHCHD7_ENST00000518801.1_Silent_p.T17T|CHCHD7_ENST00000521524.1_Silent_p.T17T|CHCHD7_ENST00000517933.1_Silent_p.T5T|CHCHD7_ENST00000523061.1_Silent_p.T5T|CHCHD7_ENST00000303759.3_Silent_p.T30T Q9BUK0 CHCH7_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 7 5 CHCH. CHCHD7/PLAG1(12) endometrium(1) 1 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00159)|all cancers(17;0.0112) CCTCGGTAACACAGAGGCTGA 0.363000 T PLAG1 salivary adenoma 4 70 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559422 129559422 + Silent SNP C C T TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr12:129559422C>T ENST00000422113.2 - 9 2624 c.2298G>A c.(2296-2298)ctG>ctA p.L766L TMEM132D_ENST00000389441.4_Silent_p.L304L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 766 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCACCTTGACCAGGGTGCCTT 0.463000 7 130 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7663142 7663142 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:7663142G>A ENST00000572933.1 + 17 4131 c.2671G>A c.(2671-2673)Ggt>Agt p.G891S DNAH2_ENST00000389173.2_Missense_Mutation_p.G891S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 891 Stem (By similarity). 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) GACTTTGGCAGGTGTGGTCAA 0.517000 5 214 0 0 1 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900082 4900082 + Missense_Mutation SNP T T A rs118093265 by1000genomes TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr7:4900082T>A ENST00000404991.1 - 1 1543 c.1357A>T c.(1357-1359)Agc>Tgc p.S453C RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 453 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AGATCAATGCTGAGAATTTCA 0.373000 7 128 0 0 1 0 0 EIF4E2 9470 broad.mit.edu 37 2 233431800 233431800 + Missense_Mutation SNP T T C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr2:233431800T>C ENST00000409514.1 + 6 583 c.541T>C c.(541-543)Tca>Cca p.S181P EIF4E2_ENST00000409167.3_Missense_Mutation_p.S136P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.S136P|EIF4E2_ENST00000409098.1_Missense_Mutation_p.S181P|EIF4E2_ENST00000258416.3_Missense_Mutation_p.S181P|EIF4E2_ENST00000409495.1_Missense_Mutation_p.S181P|EIF4E2_ENST00000409322.1_Missense_Mutation_p.S136P NM_001282958.1 NP_001269887.1 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 181 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGACATTATTTCAATATGGAA 0.493000 15 73 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7690871 7690871 + Missense_Mutation SNP G G C TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:7690871G>C ENST00000338316.4 + 5 877 c.788G>C c.(787-789)aGg>aCg p.R263T ADCY2_ENST00000537121.1_Missense_Mutation_p.R83T|ADCY2_ENST00000513693.1_3'UTR NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 263 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ATCATCCAGAGGCTGCAGGGC 0.562000 5 54 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137716455 137716455 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:137716455G>A ENST00000371817.3 + 62 5122 c.4708G>A c.(4708-4710)Gga>Aga p.G1570R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1570 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGCCCCCCGGGAGAGGTCAT 0.652000 5 31 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228464949 228464950 + Frame_Shift_Ins INS - - G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr1:228464949_228464950insG ENST00000570156.2 + 28 7888_7889 c.7814_7815insG c.(7813-7818)gcggatfs p.D2606fs OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Frame_Shift_Ins_p.D1078fs|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Frame_Shift_Ins_p.D2231fs|OBSCN_ENST00000284548.11_Frame_Shift_Ins_p.D2231fs NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1600 Ig-like 25. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.A2230A(2)|p.A2414A(1)|p.A2513A(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGCGAGTTCGCGGATCAGGGAG 0.639 7 18 --- --- --- --- POLQ 10721 broad.mit.edu 37 3 121207969 121207969 + Frame_Shift_Del DEL G G - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr3:121207969delG ENST00000264233.5 - 16 3937 c.3809delC c.(3808-3810)ccafs p.P1270fs NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1270 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TCCAGCTGATGGAAGTACTTC 0.348 DNA polymerases (catalytic subunits) 7 190 --- --- --- --- LOC101927237 101927237 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128207200 128207202 + RNA DEL GAG GAG - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr4:128207200_128207202delGAG ENST00000504050.1 - 0 368 GAATgaggaagaggaggaggagg 0.335 2 4 --- --- --- --- ERBB2IP 55914 broad.mit.edu 37 5 65346627 65346628 + Frame_Shift_Del DEL AG AG - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr5:65346627_65346628delAG ENST00000284037.5 + 20 2309_2310 c.1920_1921delAG c.(1918-1923)acagatfs p.D641fs ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.D637fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.D641fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.D641fs NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 641 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CAAAGGAAACAGATTCTTTATC 0.312 11 80 --- --- --- --- SOBP 55084 broad.mit.edu 37 6 107956280 107956282 + In_Frame_Del DEL GCC GCC - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr6:107956280_107956282delGCC ENST00000317357.5 + 6 2891_2893 c.2232_2234delGCC c.(2230-2235)cagccg>cag p.P751del SOBP_ENST00000494935.1_3'UTR NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 751 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CTCCCGAGCAgccgccgccgccg 0.749 2 4 --- --- --- --- LINC01239 441389 broad.mit.edu 37 9 22823496 22823497 + RNA INS - - C rs146924324 by1000genomes TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr9:22823496_22823497insC ENST00000436786.1 + 0 1631_1632 NR_038977.1 acttgggttttctgttgagatg 0.520 5 4 --- --- --- --- ATP12A 479 broad.mit.edu 37 13 25268647 25268648 + Frame_Shift_Del DEL TG TG - rs150118663 TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:25268647_25268648delTG ENST00000218548.6 + 11 1794_1795 c.1461_1462delTG c.(1459-1464)gatgtgfs p.V488fs ATP12A_ENST00000381946.3_Frame_Shift_Del_p.V482fs NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 482 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TTTTGGGTGATGTGATGGAAAT 0.366 OREG0022298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 115 --- --- --- --- FRY 10129 broad.mit.edu 37 13 32828466 32828467 + Frame_Shift_Del DEL AG AG - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr13:32828466_32828467delAG ENST00000380250.3 + 51 7847_7848 c.7351_7352delAG c.(7351-7353)agcfs p.S2451fs NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2451 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGACACAAACAGCGAGCAGCAG 0.500 10 137 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96829275 96829275 + Frame_Shift_Del DEL G G - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr14:96829275delG ENST00000359933.4 - 1 932 c.39delC c.(37-39)gccfs p.A13fs NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 13 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GGTACCGGCAGGCCCTCTTCT 0.647 13 78 --- --- --- --- TEFM 79736 broad.mit.edu 37 17 29226288 29226289 + Frame_Shift_Del DEL TC TC - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:29226288_29226289delTC ENST00000581216.1 - 4 1602_1603 c.981_982delGA c.(979-984)cagatgfs p.QM327fs TEFM_ENST00000580840.1_3'UTR NM_024683.3 NP_078959.3 Q96QE5 TEFM_HUMAN transcription elongation factor, mitochondrial 327 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding GATAAAAACATCTGTCTGTAGT 0.381 7 154 --- --- --- --- KRTAP9-4 85280 broad.mit.edu 37 17 39406365 39406365 + Frame_Shift_Del DEL C C - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr17:39406365delC ENST00000334109.2 + 1 427 c.393delC c.(391-393)cgcfs p.R131fs NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 131 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTGCTGCCGCCCAGCCTGCT 0.577 15 192 --- --- --- --- ZNF226 7769 broad.mit.edu 37 19 44680560 44680561 + Frame_Shift_Del DEL AG AG - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:44680560_44680561delAG ENST00000590089.1 + 7 1512_1513 c.1145_1146delAG c.(1144-1146)cagfs p.Q382fs ZNF226_ENST00000454662.2_Frame_Shift_Del_p.Q382fs|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.Q382fs Q9NYT6 ZN226_HUMAN zinc finger protein 226 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) CAGGACCATCAGAGACTCCACA 0.475 18 107 --- --- --- --- GP6 51206 broad.mit.edu 37 19 55530035 55530036 + Frame_Shift_Del DEL CG CG - rs1654416 by1000genomes TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chr19:55530035_55530036delCG ENST00000310373.3 - 6 735_736 c.708_709delCG c.(706-711)aacgaafs p.NE236fs GP6_ENST00000333884.2_Frame_Shift_Del_p.NE218fs|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Frame_Shift_Del_p.NE236fs|CTC-550B14.7_ENST00000586845.1_RNA NM_001083899.1 NP_001077368 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 236 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) GTGAAGACTTCGTTTGTGAATG 0.450 7 135 --- --- --- --- CA5BP1 340591 broad.mit.edu 37 X 15699130 15699130 + RNA DEL G G - TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 730313c2-ea4d-4cfa-8bc3-59a7eec7a3b6 a2440235-aa6f-4545-a323-90e06eb7964a g.chrX:15699130delG ENST00000380334.2 + 0 27 CTAGGTTATTGGGTTCCTGCA 0.443 2 4 --- --- --- ---