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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample TNFRSF4 7293 broad.mit.edu 37 1 1149375 1149375 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:1149375C>T uc001ade.2 - 1 138 c.133G>A c.(133-135)GAG>AAG p.E45K TNFRSF4_uc001adf.2_5'UTR NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 45 Extracellular (Potential).|TNFR-Cys 1. immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGCCTGCACTCGTGGCAGCAC 0.721 NaN 0 0 0 0.004672 0 3 5 CASZ1 54897 broad.mit.edu 37 1 10713996 10713996 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:10713996C>T uc001aro.2 - 11 2438 c.2118G>A c.(2116-2118)CCG>CCA p.P706P CASZ1_uc001arp.1_Silent_p.P706P|CASZ1_uc009vmx.2_Silent_p.P730P NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 706 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCAGCGAGGGCGGCAGCCCCA 0.667 NaN 0 0 0 0.028581 0 17 49 DNAJC16 23341 broad.mit.edu 37 1 15860766 15860766 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:15860766G>A uc001aws.2 + 3 322 c.202G>A c.(202-204)GAC>AAC p.D68N DNAJC16_uc001awr.1_Missense_Mutation_p.D68N|DNAJC16_uc001awt.2_5'UTR NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 68 Cytoplasmic (Potential).|J. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TGGAGCAGAAGACAAGTTCAT 0.413 NaN 0 0 0 0.048971 0 48 46 DNAJC16 23341 broad.mit.edu 37 1 15863024 15863024 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:15863024G>C uc001aws.2 + 4 409 c.289G>C c.(289-291)GAG>CAG p.E97Q DNAJC16_uc001awr.1_Missense_Mutation_p.E97Q|DNAJC16_uc001awt.2_5'UTR NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 97 Cytoplasmic (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AGACGCTGGAGAGAACCAGGG 0.363 NaN 0 0 0 0.037714 0 31 29 RSC1A1 6248 broad.mit.edu 37 1 15986519 15986519 + Silent SNP T T C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:15986519T>C uc010obn.1 + 1 156 c.156T>C c.(154-156)GCT>GCC p.A52A DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 52 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AACCTAAAGCTGTGAAGGCTT 0.448 NaN 0 0 0 0.048971 0 154 179 ARHGEF10L 55160 broad.mit.edu 37 1 17942675 17942675 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:17942675C>T uc001ban.2 + 9 972 c.813C>T c.(811-813)TTC>TTT p.F271F ARHGEF10L_uc009vpe.1_Silent_p.F232F|ARHGEF10L_uc001bao.2_Silent_p.F232F|ARHGEF10L_uc001bap.2_Silent_p.F232F|ARHGEF10L_uc010ocr.1_Silent_p.F29F|ARHGEF10L_uc001baq.2_Silent_p.F37F|ARHGEF10L_uc010ocs.1_5'Flank|ARHGEF10L_uc001bar.2_5'Flank NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 271 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AAGTCTCCTTCCTGCACAGGA 0.622 NaN 0 0 0 0.054565 0 33 71 LUZP1 7798 broad.mit.edu 37 1 23418794 23418794 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:23418794C>G uc001bgk.2 - 4 2345 c.1961G>C c.(1960-1962)AGA>ACA p.R654T LUZP1_uc010odv.1_Missense_Mutation_p.R654T|LUZP1_uc001bgl.2_Missense_Mutation_p.R654T|LUZP1_uc001bgm.1_Missense_Mutation_p.R654T NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 654 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TGGCTTCTCTCTGCCACTGGA 0.483 NaN 0 0 0 0.048971 0 79 166 LUZP1 7798 broad.mit.edu 37 1 23418882 23418882 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:23418882C>T uc001bgk.2 - 4 2257 c.1873G>A c.(1873-1875)GAA>AAA p.E625K LUZP1_uc010odv.1_Missense_Mutation_p.E625K|LUZP1_uc001bgl.2_Missense_Mutation_p.E625K|LUZP1_uc001bgm.1_Missense_Mutation_p.E625K NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 625 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTAACCCCTTCTTTATGTGAG 0.468 NaN 0 0 0 0.048971 0 80 160 LUZP1 7798 broad.mit.edu 37 1 23419929 23419929 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:23419929C>T uc001bgk.2 - 4 1210 c.826G>A c.(826-828)GAA>AAA p.E276K LUZP1_uc010odv.1_Missense_Mutation_p.E276K|LUZP1_uc001bgl.2_Missense_Mutation_p.E276K|LUZP1_uc001bgm.1_Missense_Mutation_p.E276K NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 276 Potential. nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTTTCATTTTCTGATTTGTTT 0.403 NaN 0 0 0 0.045705 0 7 74 GPN2 54707 broad.mit.edu 37 1 27212601 27212601 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:27212601C>G uc001bnd.1 - 3 874 c.592G>C c.(592-594)GAG>CAG p.E198Q NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN ATP binding domain 1 family, member B 198 GTP binding 0 TCCAGAACCTCTGTGTAGTAG 0.502 NaN 0 0 0 0.020292 0 15 38 TMEM54 113452 broad.mit.edu 37 1 33363847 33363847 + Silent SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:33363847C>G uc001bwi.1 - 2 204 c.90G>C c.(88-90)GTG>GTC p.V30V TMEM54_uc001bwj.1_Silent_p.V30V|TMEM54_uc001bwk.1_Silent_p.V30V NM_033504 NP_277039 Q969K7 TMM54_HUMAN transmembrane protein 54 30 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGATGAAGCTCACATGGCCCA 0.612 NaN 0 0 0 0.076483 0 23 64 TMEM54 113452 broad.mit.edu 37 1 33363913 33363913 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:33363913C>T uc001bwi.1 - 2 138 c.24G>A c.(22-24)CTG>CTA p.L8L TMEM54_uc001bwj.1_Silent_p.L8L|TMEM54_uc001bwk.1_Silent_p.L8L NM_033504 NP_277039 Q969K7 TMM54_HUMAN transmembrane protein 54 8 integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CGCCCACACTCAGGCCTCCTG 0.617 NaN 0 0 0 0.105934 0 12 43 CD58 965 broad.mit.edu 37 1 117078651 117078651 + Silent SNP A A T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:117078651A>T uc001egm.2 - 3 685 c.564T>A c.(562-564)ACT>ACA p.T188T CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.T188T|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.T188T NM_001779 NP_001770 P19256 LFA3_HUMAN CD58 molecule isoform 1 188 Extracellular (Potential).|Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding 0 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) GATTGCTAAGAGTACACTGTA 0.343 NaN 0 0 0 0.014758 0 5 118 CHD1L 9557 broad.mit.edu 37 1 146747112 146747112 + Missense_Mutation SNP C C A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:146747112C>A uc001epm.3 + 13 1429 c.1366C>A c.(1366-1368)CAT>AAT p.H456N uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.H343N|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.H362N|CHD1L_uc010ozp.1_Missense_Mutation_p.H175N|CHD1L_uc001epo.3_Missense_Mutation_p.H252N|CHD1L_uc010ozq.1_Missense_Mutation_p.H29N|CHD1L_uc009wji.2_Missense_Mutation_p.H175N NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 456 Helicase C-terminal. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) TGCCAGGGCTCATCGCATTGG 0.443 NaN 1 0 2.02796e-37 0.048971 2.19171e-37 69 72 MTMR11 10903 broad.mit.edu 37 1 149903264 149903264 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:149903264G>A uc001etl.3 - 13 1429 c.1178C>T c.(1177-1179)TCA>TTA p.S393L MTMR11_uc001etm.1_Missense_Mutation_p.S321L|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Silent_p.F219F NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 393 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TTCGGGGGCTGAAAGCAGCTG 0.562 NaN 0 0 0 0.09836 0 41 66 ZNF687 57592 broad.mit.edu 37 1 151262304 151262304 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:151262304G>A uc001exq.2 + 6 2883 c.2785G>A c.(2785-2787)GAG>AAG p.E929K ZNF687_uc009wmo.2_Missense_Mutation_p.E929K|ZNF687_uc009wmp.2_Missense_Mutation_p.E929K NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 929 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTCAGAAGAGGAGGAAGTACC 0.657 NaN 0 0 0 0.02938 0 6 3 SMG5 23381 broad.mit.edu 37 1 156242175 156242175 + Nonsense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:156242175G>A uc001foc.3 - 7 798 c.649C>T c.(649-651)CAG>TAG p.Q217* NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 217 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) GTGCCCAGCTGATTGAAGGGC 0.493 NaN 0 0 0 0.021553 0 5 20 SMG5 23381 broad.mit.edu 37 1 156243158 156243158 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:156243158G>C uc001foc.3 - 6 777 c.628C>G c.(628-630)CAG>GAG p.Q210E NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 210 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TTACCAATCTGAGGAGCTACT 0.478 NaN 0 0 0 0.0918 0 23 54 HMCN1 83872 broad.mit.edu 37 1 186106714 186106714 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:186106714G>A uc001grq.1 + 88 13896 c.13667G>A c.(13666-13668)TGC>TAC p.C4556Y HMCN1_uc001grs.1_Missense_Mutation_p.C125Y NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4556 TSP type-1 1. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGTCGTCTGTGCAACCAGCCC 0.488 NaN 0 0 0 0.037714 0 29 37 TRAF3IP3 80342 broad.mit.edu 37 1 209933433 209933433 + Missense_Mutation SNP G G A rs150331171 TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:209933433G>A uc001hho.2 + 3 339 c.49G>A c.(49-51)GAG>AAG p.E17K TRAF3IP3_uc001hhl.2_Missense_Mutation_p.E17K|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.E17K|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.E17K|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.E17K NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 17 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCGGTGGGCTGAGAGCTATGA 0.622 NaN 0 0 0 0.038395 0 17 33 ZP4 57829 broad.mit.edu 37 1 238053473 238053473 + Missense_Mutation SNP T T G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:238053473T>G uc001hym.2 - 2 179 c.179A>C c.(178-180)AAC>ACC p.N60T LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 60 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CAGCCCTTGGTTGTCTGGAGG 0.562 NaN 0 0 0 0.048971 0 53 56 WDR64 128025 broad.mit.edu 37 1 241951205 241951205 + Silent SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:241951205C>G uc001hzf.1 + 13 1542 c.1389C>G c.(1387-1389)CTC>CTG p.L463L WDR64_uc001hzg.1_Silent_p.L376L NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 910 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) AGCGAAGGCTCTTTGAATTAT 0.383 NaN 0 0 0 0.048971 0 77 105 WAC 51322 broad.mit.edu 37 10 28903604 28903604 + Nonsense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr10:28903604C>T uc001iuf.2 + 11 1631 c.1546C>T c.(1546-1548)CAG>TAG p.Q516* WAC_uc001iud.2_Nonsense_Mutation_p.Q471*|WAC_uc001iue.2_Nonsense_Mutation_p.Q206*|WAC_uc001iug.2_Nonsense_Mutation_p.Q413*|WAC_uc001iuh.2_Nonsense_Mutation_p.Q468* NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 516 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 TCGAAGTCTTCAGCGCTCAAG 0.408 NaN 0 0 0 0.034045 0 26 53 HPS6 79803 broad.mit.edu 37 10 103825676 103825676 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr10:103825676G>A uc001kuj.2 + 1 530 c.445G>A c.(445-447)GAG>AAG p.E149K NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 149 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGCCCGGGCCGAGGGCCCGTC 0.736 NaN Hermansky-Pudlak_syndrome 0 0 0 0.009096 0 4 0 OR51D1 390038 broad.mit.edu 37 11 4661394 4661394 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr11:4661394C>T uc010qyk.1 + 1 374 c.374C>T c.(373-375)TCA>TTA p.S125L NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 125 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCGTGGAGTCAGCTGTCCTG 0.547 NaN 0 0 0 0.064281 0 37 25 OR51D1 390038 broad.mit.edu 37 11 4661499 4661499 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr11:4661499C>T uc010qyk.1 + 1 479 c.479C>T c.(478-480)TCT>TTT p.S160F NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTGGACTATCTGCCCTGACC 0.532 NaN 0 0 0 0.048971 0 60 64 CAPRIN1 4076 broad.mit.edu 37 11 34097866 34097867 + Missense_Mutation DNP TG TG CA rs140627436 byFrequency TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr11:34097866_34097867TG>CA uc001mvh.1 + 5 639_640 c.450_451TG>CA c.(448-453)CTTGAG>CTCAAG p.E151K CAPRIN1_uc001mvg.2_Missense_Mutation_p.E151K|CAPRIN1_uc001mvi.2_Missense_Mutation_p.E151K|CAPRIN1_uc001mvj.1_Missense_Mutation_p.E70K NM_005898 NP_005889 Q14444 CAPR1_HUMAN membrane component chromosome 11 surface marker 151 Potential. negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) AAACTGTACTTGAGCTACAGTA 0.401 NaN 0 0 0 0.004672 0 26 24 PCNXL3 399909 broad.mit.edu 37 11 65385501 65385501 + Missense_Mutation SNP A A G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr11:65385501A>G uc001oey.2 + 6 668 c.668A>G c.(667-669)GAT>GGT p.D223G NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 223 integral to membrane 0 CTGGCTGGAGATGGAGCGCCC 0.622 NaN 0 0 0 0.02938 0 7 8 SHANK2 22941 broad.mit.edu 37 11 70332827 70332827 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr11:70332827C>T uc001oqc.2 - 21 3649 c.3571G>A c.(3571-3573)GCG>ACG p.A1191T SHANK2_uc010rqn.1_Missense_Mutation_p.A603T|SHANK2_uc001opz.2_Missense_Mutation_p.A596T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 812 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCGCTGCTCGCGGAGGGCACT 0.706 NaN 0 0 0 0.020292 0 15 48 ARHGEF12 23365 broad.mit.edu 37 11 120298916 120298916 + Missense_Mutation SNP C C G rs147982337 by1000genomes TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr11:120298916C>G uc001pxl.1 + 8 552 c.545C>G c.(544-546)TCT>TGT p.S182C ARHGEF12_uc009zat.2_Missense_Mutation_p.S163C|ARHGEF12_uc010rzn.1_Missense_Mutation_p.S79C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S79C NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 182 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CCTGGAGCATCTGGGAATATG 0.458 NaN T MLL AML 0 0 0 0.048971 0 73 117 IGSF9B 22997 broad.mit.edu 37 11 133789947 133789947 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr11:133789947G>C uc001qgx.3 - 18 3904 c.3673C>G c.(3673-3675)CGC>GGC p.R1225G NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1225 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) AGGCCCGGGCGAGGCCGGGCA 0.677 NaN 0 0 0 0.049695 0 21 45 CAPRIN2 65981 broad.mit.edu 37 12 30863384 30863384 + Nonsense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr12:30863384G>A uc001rji.1 - 18 3587 c.2836C>T c.(2836-2838)CAG>TAG p.Q946* CAPRIN2_uc001rjf.1_Silent_p.L756L|CAPRIN2_uc001rjg.1_Nonsense_Mutation_p.Q613*|CAPRIN2_uc001rjh.1_Nonsense_Mutation_p.Q896*|CAPRIN2_uc001rjj.1_Nonsense_Mutation_p.Q612*|CAPRIN2_uc001rjk.3_Silent_p.L959L|CAPRIN2_uc001rjl.3_Silent_p.L904L NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 946 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CTGCTCACCTGAGAAGAATCA 0.448 NaN 0 0 0 0.048971 0 88 153 SELPLG 6404 broad.mit.edu 37 12 109017670 109017670 + Silent SNP G G T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr12:109017670G>T uc001tni.2 - 2 574 c.414C>A c.(412-414)CCC>CCA p.P138P SELPLG_uc001tnh.2_Intron|SELPLG_uc010sxe.1_Silent_p.P154P NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 138 2.|Extracellular (Potential).|12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 GTGCCTCCGTGGGCACTGGTT 0.612 NaN 1 0 7.26314e-15 0.034045 7.70602e-15 29 71 CORO1C 23603 broad.mit.edu 37 12 109095087 109095087 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr12:109095087C>G uc001tnj.2 - 2 104 c.8G>C c.(7-9)CGA>CCA p.R3P CORO1C_uc009zva.2_Missense_Mutation_p.R56P|CORO1C_uc010sxf.1_Missense_Mutation_p.R3P NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 3 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 TCGTACCACTCGCCTCATCGT 0.428 NaN 0 0 0 0.080422 0 39 72 NUDT15 55270 broad.mit.edu 37 13 48611984 48611984 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr13:48611984G>C uc001vbw.1 + 1 282 c.102G>C c.(100-102)AGG>AGC p.R34S SUCLA2_uc010tgd.1_5'UTR|NUDT15_uc001vbv.2_Missense_Mutation_p.R34S NM_018283 NP_060753 Q9NV35 NUD15_HUMAN nudix-type motif 15 34 Nudix hydrolase. hydrolase activity|metal ion binding 0 all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;4.83e-07) TGGGGAAGAGGAAAGGCTCGG 0.682 NaN OREG0022405 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 4 RBM26 64062 broad.mit.edu 37 13 79928636 79928636 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr13:79928636G>C uc001vkz.2 - 13 1944 c.1930C>G c.(1930-1932)CCA>GCA p.P644A RBM26_uc001vky.2_Missense_Mutation_p.P639A|RBM26_uc001vla.2_Missense_Mutation_p.P642A|RBM26_uc010tia.1_Missense_Mutation_p.P23A|RBM26_uc001vkx.2_Missense_Mutation_p.P354A NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 642 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GAAGGTACTGGACCCAGCCGC 0.463 NaN 0 0 0 0.014758 0 4 77 FARP1 10160 broad.mit.edu 37 13 99083532 99083532 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr13:99083532G>A uc001vnj.2 + 18 2477 c.2141G>A c.(2140-2142)CGA>CAA p.R714Q FARP1_uc001vnh.2_Missense_Mutation_p.R714Q NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 714 DH. R -> L (in a breast cancer sample; somatic mutation). regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity p.R714L(2) breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGGGACTGCCGAGGTGAGTGC 0.687 NaN 0 0 0 0.021553 0 4 3 TM9SF2 9375 broad.mit.edu 37 13 100154005 100154005 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr13:100154005G>A uc001voj.1 + 1 278 c.145G>A c.(145-147)GAA>AAA p.E49K TM9SF2_uc010afz.1_Missense_Mutation_p.E49K NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 49 Lumenal (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CTTCTGCGACGAAGAAAAAAA 0.647 NaN 0 0 0 0.045705 0 30 34 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr13:115047559C>T uc001vup.2 + 2 308 c.271C>T c.(271-273)CTG>TTG p.L91L UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731 NaN 0 0 0 0.004672 0 2 1 TMEM55B 90809 broad.mit.edu 37 14 20928871 20928871 + Silent SNP G G A rs150985847 TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr14:20928871G>A uc001vxl.2 - 2 429 c.276C>T c.(274-276)AAC>AAT p.N92N TMEM55B_uc001vxk.2_Silent_p.N99N NM_144568 NP_653169 Q86T03 TM55B_HUMAN transmembrane protein 55B isoform 2 92 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) TGCCTTCCACGTTGATGAGAG 0.527 NaN 0 0 0 0.050027 0 32 84 SOS2 6655 broad.mit.edu 37 14 50626242 50626242 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr14:50626242C>G uc001wxs.3 - 10 1857 c.1759G>C c.(1759-1761)GAA>CAA p.E587Q SOS2_uc010tql.1_Missense_Mutation_p.E554Q|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.E275Q NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 587 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) AAGTTGTCTTCAAAAACAATG 0.338 NaN 0 0 0 0.039052 0 44 85 FBXO34 55030 broad.mit.edu 37 14 55817155 55817155 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr14:55817155C>T uc001xbu.2 + 2 292 c.47C>T c.(46-48)CCG>CTG p.P16L FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.P16L NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 16 ovary(2)|lung(2)|skin(1) 5 GAGCACCCCCCGGAAGTCAGC 0.423 NaN 0 0 0 0.020292 0 15 45 PSEN1 5663 broad.mit.edu 37 14 73683862 73683862 + Missense_Mutation SNP C C A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr14:73683862C>A uc001xnr.2 + 11 1442 c.1158C>A c.(1156-1158)TTC>TTA p.F386L PSEN1_uc001xnv.2_Missense_Mutation_p.F382L|PSEN1_uc010ark.2_Missense_Mutation_p.F382L|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 386 Required for interaction with CTNND2.|Required for interaction with CTNNB1.|Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) TGGGAGATTTCATTTTCTACA 0.368 NaN 1 0 5.85753e-14 0.048971 6.17703e-14 51 74 AHNAK2 113146 broad.mit.edu 37 14 105411641 105411641 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr14:105411641C>T uc010axc.1 - 7 10267 c.10147G>A c.(10147-10149)GAG>AAG p.E3383K AHNAK2_uc001ypx.2_Missense_Mutation_p.E3283K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3383 nucleus ovary(1) 1 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) CCAGCTCCCTCGGGCACGTGG 0.632 NaN 0 0 0 0.048971 0 94 225 TPM1 7168 broad.mit.edu 37 15 63354444 63354444 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr15:63354444G>C uc002alg.2 + 7 861 c.670G>C c.(670-672)GAG>CAG p.E224Q TPM1_uc002alh.2_Missense_Mutation_p.E224Q|TPM1_uc010bgn.2_RNA|TPM1_uc002ali.2_Missense_Mutation_p.E224Q|TPM1_uc002alj.2_Missense_Mutation_p.E224Q|TPM1_uc002alk.2_Missense_Mutation_p.E224Q|TPM1_uc002all.2_Missense_Mutation_p.E224Q|TPM1_uc002alm.2_Missense_Mutation_p.E266Q|TPM1_uc010uie.1_Missense_Mutation_p.E224Q|TPM1_uc002alp.2_Missense_Mutation_p.E224Q|TPM1_uc010uif.1_Missense_Mutation_p.E188Q|TPM1_uc002alr.2_Missense_Mutation_p.E188Q|TPM1_uc002als.2_Missense_Mutation_p.E188Q|TPM1_uc010uig.1_Missense_Mutation_p.E188Q|TPM1_uc002alt.2_Missense_Mutation_p.E188Q|TPM1_uc010bgp.2_Missense_Mutation_p.E98Q NM_001018005 NP_001018005 P09493 TPM1_HUMAN tropomyosin 1 alpha chain isoform 1 224 By similarity. cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber actin binding|structural constituent of cytoskeleton|structural constituent of muscle 0 ATATGAGGAAGAGATCAAGGT 0.433 NaN 0 0 0 0.041601 0 28 69 RPL4 6124 broad.mit.edu 37 15 66794183 66794183 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr15:66794183C>G uc002apv.2 - 5 545 c.489G>C c.(487-489)AAG>AAC p.K163N RPL4_uc010bhr.2_Missense_Mutation_p.K69N|RPL4_uc002apw.2_Missense_Mutation_p.K69N|RPL4_uc002apx.2_Missense_Mutation_p.K69N|RPL4_uc010ujq.1_Missense_Mutation_p.K163N|SNORD18C_uc010bhs.1_5'Flank NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 163 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 CTTCCTTGGTCTTCTTGTAGC 0.383 NaN 0 0 0 0.041601 0 31 49 TPSG1 25823 broad.mit.edu 37 16 1271924 1271924 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr16:1271924G>C uc002ckw.2 - 6 832 c.830C>G c.(829-831)TCT>TGT p.S277C NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN transmembrane tryptase preproprotein 277 proteolysis integral to plasma membrane serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) GGGGTACCCAGACTCTGAGCC 0.657 NaN 0 0 0 0.069234 0 10 22 TPSG1 25823 broad.mit.edu 37 16 1271985 1271985 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr16:1271985G>A uc002ckw.2 - 6 771 c.769C>T c.(769-771)CGT>TGT p.R257C NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN transmembrane tryptase preproprotein 257 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) GCAGGGACACGAGTGTAGACT 0.672 NaN 0 0 0 0.080935 0 11 28 ITGAL 3683 broad.mit.edu 37 16 30521724 30521724 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr16:30521724G>A uc002dyi.3 + 22 2727 c.2551G>A c.(2551-2553)GAG>AAG p.E851K ITGAL_uc002dyj.3_Missense_Mutation_p.E767K|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 851 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) GCTTCCTGAAGAGTCCAGGCT 0.532 NaN 0 0 0 0.039052 0 41 88 IRX6 79190 broad.mit.edu 37 16 55362791 55362791 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr16:55362791G>C uc002ehy.2 + 5 1434 c.901G>C c.(901-903)GAG>CAG p.E301Q IRX6_uc002ehx.2_Missense_Mutation_p.E301Q NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 301 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 TGCAGCTCGAGAGGGCCGATT 0.597 NaN 0 0 0 0.069288 0 23 56 CDH3 1001 broad.mit.edu 37 16 68716273 68716273 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr16:68716273C>T uc002ewf.2 + 9 2197 c.1065C>T c.(1063-1065)GAC>GAT p.D355D CDH3_uc010vli.1_Silent_p.D300D NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 355 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CTGATCTGGACGCCCCCAACT 0.592 NaN 0 0 0 0.038395 0 17 28 CYB5B 80777 broad.mit.edu 37 16 69458658 69458658 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr16:69458658C>T uc002exg.1 + 1 161 c.72C>T c.(70-72)GTC>GTT p.V24V CYB5B_uc002exf.2_Silent_p.V24V|CYB5B_uc010cfl.1_Silent_p.V24V NM_030579 NP_085056 O43169 CYB5B_HUMAN cytochrome b5 outer mitochondrial membrane 20 Cytochrome b5 heme-binding. electron transport chain|transport integral to membrane|mitochondrial outer membrane heme binding 0 Ovarian(137;0.101) AGACCTCAGTCACCTATTACC 0.567 NaN 0 0 0 0.034045 0 28 52 TCF25 22980 broad.mit.edu 37 16 89967083 89967083 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr16:89967083C>G uc002fpb.2 + 12 1344 c.1262C>G c.(1261-1263)TCT>TGT p.S421C TCF25_uc002fpc.2_Missense_Mutation_p.S186C NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 421 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TTTGCCTTCTCTGTTCCACTG 0.532 NaN 0 0 0 0.045705 0 31 53 DNAH2 146754 broad.mit.edu 37 17 7697658 7697658 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr17:7697658C>G uc002giu.1 + 48 7670 c.7656C>G c.(7654-7656)ATC>ATG p.I2552M NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2552 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCAACATTATCAACATGACCT 0.592 NaN 0 0 0 0.041601 0 29 42 CNTROB 116840 broad.mit.edu 37 17 7843441 7843441 + Missense_Mutation SNP G G T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr17:7843441G>T uc002gjq.2 + 10 2111 c.1192G>T c.(1192-1194)GCC>TCC p.A398S CNTROB_uc002gjp.2_Missense_Mutation_p.A398S|CNTROB_uc002gjr.2_Missense_Mutation_p.A300S|CNTROB_uc010vum.1_Missense_Mutation_p.A110S NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 398 Potential.|Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) AGCCCAGGCCGCCTGGGAGAC 0.532 NaN 1 0 1.06801e-11 0.041601 1.11278e-11 31 80 PHOSPHO1 162466 broad.mit.edu 37 17 47302012 47302012 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr17:47302012G>A uc010wlv.1 - 3 766 c.400C>T c.(400-402)CGC>TGC p.R134C PHOSPHO1_uc002ios.2_Missense_Mutation_p.R159C NM_178500 NP_848595 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 isoform 2 134 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity 0 Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) CCGGCGGCGCGCAGCGAGCTC 0.657 NaN 0 0 0 0.004672 0 3 6 KIF2B 84643 broad.mit.edu 37 17 51901070 51901070 + Nonsense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr17:51901070C>T uc002iua.2 + 1 832 c.676C>T c.(676-678)CGA>TGA p.R226* uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 226 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TCTCAACCAGCGAGAGACAAC 0.557 NaN 0 0 0 0.049695 0 20 33 ABCA9 10350 broad.mit.edu 37 17 66972297 66972297 + Silent SNP G G T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr17:66972297G>T uc002jhu.2 - 38 4898 c.4755C>A c.(4753-4755)CTC>CTA p.L1585L ABCA9_uc010dez.2_Silent_p.L1547L NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1585 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TAGACTGTGAGAGGCTGTACT 0.403 NaN 1 0 3.8784e-16 0.062417 4.14014e-16 21 63 ACTG1 71 broad.mit.edu 37 17 79477994 79477994 + Missense_Mutation SNP T T C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr17:79477994T>C uc002kaj.1 - 4 968 c.943A>G c.(943-945)AAG>GAG p.K315E ACTG1_uc002kah.1_Missense_Mutation_p.K193E|ACTG1_uc002kai.1_Missense_Mutation_p.K272E|ACTG1_uc002kak.1_Missense_Mutation_p.K315E|ACTG1_uc010wun.1_Missense_Mutation_p.K315E|ACTG1_uc002kal.1_Missense_Mutation_p.K315E|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 315 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) GTGATCTCCTTCTGCATCCTG 0.632 NaN 0 0 0 0.064281 0 36 66 NPLOC4 55666 broad.mit.edu 37 17 79534448 79534448 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr17:79534448G>C uc002kat.3 - 15 1743 c.1561C>G c.(1561-1563)CTG>GTG p.L521V NPLOC4_uc002kau.3_Missense_Mutation_p.L521V|NPLOC4_uc010wur.1_Missense_Mutation_p.L360V|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_Silent_p.L44L NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 521 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 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) CGCACCTGCAGAGGCATAACT 0.502 NaN 0 0 0 0.038147 0 8 11 C18orf34 374864 broad.mit.edu 37 18 30554631 30554631 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr18:30554631C>G uc002kxn.2 - 21 2545 c.2403G>C c.(2401-2403)CAG>CAC p.Q801H C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.Q265H|C18orf34_uc010xbr.1_Missense_Mutation_p.Q825H|C18orf34_uc010dmf.1_Missense_Mutation_p.Q121H|C18orf34_uc002kxo.2_Missense_Mutation_p.Q763H|C18orf34_uc002kxp.2_Missense_Mutation_p.Q801H NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 801 ovary(1) 1 GCATCCTTCTCTGCAGCTGAC 0.502 NaN 0 0 0 0.024245 0 16 16 KIAA1632 57724 broad.mit.edu 37 18 43534669 43534669 + Silent SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr18:43534669C>G uc002lbm.2 - 2 799 c.699G>C c.(697-699)GTG>GTC p.V233V KIAA1632_uc002lbo.1_Silent_p.V233V NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 233 autophagy 0 GCAAGGGTTTCACTGCCACCA 0.483 NaN 0 0 0 0.09836 0 41 30 KIAA1632 57724 broad.mit.edu 37 18 43535299 43535299 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr18:43535299C>G uc002lbm.2 - 2 169 c.69G>C c.(67-69)AAG>AAC p.K23N KIAA1632_uc002lbo.1_Missense_Mutation_p.K23N NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 23 autophagy 0 CATACTTCTTCTTTTCCTAAA 0.353 NaN 0 0 0 0.080935 0 12 12 DAPK3 1613 broad.mit.edu 37 19 3959237 3959237 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:3959237G>A uc002lzc.1 - 8 1320 c.1227C>T c.(1225-1227)CTC>CTT p.L409L DAPK3_uc002lzb.1_Silent_p.L146L|DAPK3_uc002lzd.1_Silent_p.L409L NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 409 Interaction with CDC5L (By similarity). apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) AGCGGCGCTTGAGGCCGCTGG 0.701 NaN 0 0 0 0.047766 0 8 9 ADAMTS10 81794 broad.mit.edu 37 19 8661877 8661877 + Missense_Mutation SNP A A G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:8661877A>G uc002mkj.1 - 8 1308 c.1034T>C c.(1033-1035)ATC>ACC p.I345T ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 345 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 TCACCGTGTGATGAGCACTGC 0.537 NaN 0 0 0 0.108266 0 27 62 C19orf56 51398 broad.mit.edu 37 19 12780451 12780451 + Translation_Start_Site SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:12780451G>C uc002mud.2 - 1 15 c.-233C>G c.(-235--231)ATCGG>ATGGG MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_Intron|WDR83_uc002muc.2_Intron|WDR83_uc010dyw.2_5'Flank NM_016145 NP_057229 Q9Y284 CS056_HUMAN hypothetical protein LOC51398 integral to membrane 0 GTTCCAACCCGATCACCGAAA 0.458 NaN 0 0 0 0.004672 0 3 4 WDR83 84292 broad.mit.edu 37 19 12780828 12780828 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:12780828G>A uc002mue.3 + 4 476 c.141G>A c.(139-141)AAG>AAA p.K47K WDR83_uc002muc.2_RNA|C19orf56_uc002mud.2_5'Flank|WDR83_uc010dyw.2_Silent_p.K47K NM_001099737 NP_001093207 Q9BRX9 WDR83_HUMAN mitogen-activated protein kinase organizer 1 47 WD 1. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm lung(1)|breast(1) 2 GCAGTGACAAGACGCTGAAGC 0.677 NaN 0 0 0 0.074837 0 40 96 NACC1 112939 broad.mit.edu 37 19 13246039 13246039 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:13246039G>C uc002mwm.2 + 2 186 c.18G>C c.(16-18)CAG>CAC p.Q6H NM_052876 NP_443108 Q96RE7 NACC1_HUMAN transcriptional repressor NAC1 6 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body 0 AGACACTGCAGATGGAGATCC 0.627 NaN 0 0 0 0.105934 0 13 38 ZNF492 57615 broad.mit.edu 37 19 22847622 22847622 + Missense_Mutation SNP A A C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:22847622A>C uc002nqw.3 + 4 1395 c.1151A>C c.(1150-1152)AAG>ACG p.K384T NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 384 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ACTACACATAAGAGAATTCAT 0.378 NaN 0 0 0 0.069288 0 16 52 MAP4K1 11184 broad.mit.edu 37 19 39098807 39098807 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:39098807C>T uc002oix.1 - 14 1118 c.1010G>A c.(1009-1011)CGG>CAG p.R337Q MAP4K1_uc002oiw.1_5'Flank|MAP4K1_uc002oiy.1_Missense_Mutation_p.R337Q|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 337 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTCCATGTGCCGCCCTAGGGT 0.602 NaN 0 0 0 0.069234 0 9 25 MED29 55588 broad.mit.edu 37 19 39883109 39883109 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:39883109G>C uc002olf.2 + 2 322 c.285G>C c.(283-285)TTG>TTC p.L95F PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.L95F|MED29_uc010xux.1_Intron NM_017592 NP_060062 Q9NX70 MED29_HUMAN mediator complex subunit 29 74 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding ovary(1)|pancreas(1) 2 all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ACTAGACCTTGATGAAGGTTG 0.433 NaN 0 0 0 0.076483 0 23 46 PNMAL2 57469 broad.mit.edu 37 19 46998146 46998146 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:46998146C>T uc002pes.2 - 1 1024 c.577G>A c.(577-579)GAG>AAG p.E193K uc002peu.1_Missense_Mutation_p.S86L NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 193 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TCCTCGGCCTCACTCCTCGCG 0.647 NaN 0 0 0 0.043863 0 20 37 KCNC3 3748 broad.mit.edu 37 19 50826951 50826951 + Missense_Mutation SNP C C T rs104894699 TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:50826951C>T uc002pru.1 - 2 1554 c.1259G>A c.(1258-1260)CGC>CAC p.R420H KCNC3_uc002prt.1_Missense_Mutation_p.R56H NM_004977 NP_004968 Q14003 KCNC3_HUMAN Shaw-related voltage-gated potassium channel 420 Helical; Voltage-sensor; Name=Segment S4; (Potential). R -> H (in SCA13; loss of channel activity). cell death voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GCGCAGGATGCGGACGAAGCG 0.657 NaN 0 0 0 0.020292 0 12 44 LILRA4 23547 broad.mit.edu 37 19 54849825 54849825 + Nonsense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:54849825G>C uc002qfj.2 - 3 254 c.197C>G c.(196-198)TCA>TGA p.S66* LILRA4_uc002qfi.2_5'UTR NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 66 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCTCGACATTGAGTTTCCCTC 0.532 NaN 0 0 0 0.104719 0 40 110 ZNF543 125919 broad.mit.edu 37 19 57840563 57840563 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr19:57840563C>T uc002qoi.1 + 4 2078 c.1733C>T c.(1732-1734)TCA>TTA p.S578L NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GCACAGACTTCAGTCAACATC 0.423 NaN 0 0 0 0.059317 0 37 62 ASXL2 55252 broad.mit.edu 37 2 25990544 25990544 + Nonsense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr2:25990544G>C uc002rgs.2 - 7 904 c.683C>G c.(682-684)TCA>TGA p.S228* ASXL2_uc002rgt.1_5'UTR NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 228 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGGAGTTTGAGTTTTGAGG 0.413 NaN 0 0 0 0.069456 0 36 47 NCKAP5 344148 broad.mit.edu 37 2 133542927 133542927 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr2:133542927G>A uc002ttp.2 - 14 1831 c.1457C>T c.(1456-1458)GCA>GTA p.A486V NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 486 protein binding 0 TTGGAGCAATGCTAAGGTGGA 0.498 NaN 0 0 0 0.069456 0 35 79 LRP1B 53353 broad.mit.edu 37 2 141625828 141625828 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr2:141625828G>A uc002tvj.1 - 26 5146 c.4174C>T c.(4174-4176)CTT>TTT p.L1392F LRP1B_uc010fnl.1_Missense_Mutation_p.L574F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1392 Extracellular (Potential).|LDL-receptor class B 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCCAGAAAAGAATTCTaaaa 0.249 NaN TSP Lung(27;0.18) 0 0 0 0.038395 0 10 37 TTN 7273 broad.mit.edu 37 2 179393575 179393575 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr2:179393575C>T uc010zfg.1 - 309 99423 c.99199G>A c.(99199-99201)GAT>AAT p.D33067N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26762N|TTN_uc010zfi.1_Missense_Mutation_p.D26695N|TTN_uc010zfj.1_Missense_Mutation_p.D26570N|TTN_uc002umq.2_Missense_Mutation_p.D84N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33994 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTTCACATCAGTGGCACCA 0.453 NaN 0 0 0 0.055883 0 20 34 TTN 7273 broad.mit.edu 37 2 179430575 179430575 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr2:179430575C>T uc010zfg.1 - 275 72804 c.72580G>A c.(72580-72582)GAA>AAA p.E24194K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17889K|TTN_uc010zfi.1_Missense_Mutation_p.E17822K|TTN_uc010zfj.1_Missense_Mutation_p.E17697K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25121 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCCAAATTCATTTTCAGCC 0.433 NaN 0 0 0 0.048971 0 73 187 IKZF2 22807 broad.mit.edu 37 2 213872226 213872226 + Missense_Mutation SNP A A G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr2:213872226A>G uc002vem.2 - 8 1608 c.1439T>C c.(1438-1440)TTC>TCC p.F480S IKZF2_uc010fuu.2_Missense_Mutation_p.F335S|IKZF2_uc002vej.2_Missense_Mutation_p.F427S|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.F406S|IKZF2_uc002vel.2_Missense_Mutation_p.F401S|IKZF2_uc010fuw.2_Missense_Mutation_p.F254S|IKZF2_uc010fux.2_Missense_Mutation_p.F254S|IKZF2_uc010fuy.2_Missense_Mutation_p.F408S|IKZF2_uc002ven.2_Missense_Mutation_p.F454S|IKZF2_uc002vei.2_Missense_Mutation_p.F258S NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 480 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ATGGTCTAGGAAAAGGACTCG 0.512 NaN 0 0 0 0.055883 0 19 119 RNPEPL1 57140 broad.mit.edu 37 2 241514466 241514466 + Silent SNP G G T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr2:241514466G>T uc002vzi.2 + 7 1208 c.615G>T c.(613-615)CTG>CTT p.L205L RNPEPL1_uc010fzf.2_Silent_p.L111L|RNPEPL1_uc002vzj.2_5'Flank NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 205 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CCAGCCACCTGATGAACCTGT 0.587 NaN 1 0 3.41278e-10 0.0333 3.51375e-10 15 112 KCNB1 3745 broad.mit.edu 37 20 48098781 48098781 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr20:48098781G>A uc002xur.1 - 1 401 c.237C>T c.(235-237)GAC>GAT p.D79D KCNB1_uc002xus.1_Silent_p.D79D NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 79 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACTCGTTGTCGTCGAGGCTGT 0.647 NaN 0 0 0 0.028581 0 16 21 NFATC2 4773 broad.mit.edu 37 20 50051848 50051848 + Missense_Mutation SNP T T C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr20:50051848T>C uc002xwd.2 - 8 2129 c.1909A>G c.(1909-1911)ATG>GTG p.M637V NFATC2_uc002xwc.2_Missense_Mutation_p.M637V|NFATC2_uc010zyv.1_Missense_Mutation_p.M418V|NFATC2_uc010zyw.1_Missense_Mutation_p.M418V|NFATC2_uc010zyx.1_Missense_Mutation_p.M617V|NFATC2_uc010zyy.1_Missense_Mutation_p.M418V|NFATC2_uc010zyz.1_Missense_Mutation_p.M418V|NFATC2_uc002xwe.2_Missense_Mutation_p.M617V NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 637 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) ACAAAAAGCATGTTCTATAAG 0.453 NaN 0 0 0 0.048971 0 51 103 SRMS 6725 broad.mit.edu 37 20 62173828 62173828 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr20:62173828C>T uc002yfi.1 - 4 793 c.752G>A c.(751-753)GGC>GAC p.G251D NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 251 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGGCAGGGAGCCCAGCCACAG 0.672 NaN 0 0 0 0.080935 0 10 24 RWDD2B 10069 broad.mit.edu 37 21 30380387 30380387 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr21:30380387G>A uc002yms.2 - 4 507 c.420C>T c.(418-420)TTC>TTT p.F140F RWDD2B_uc002ymt.2_Silent_p.F111F|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Silent_p.F60F NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 140 RWD. 0 GTTTTTGCAGGAATGCAGTCA 0.398 NaN 0 0 0 0.055883 0 20 59 RSPH1 89765 broad.mit.edu 37 21 43897508 43897508 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr21:43897508G>A uc002zbg.2 - 7 725 c.620C>T c.(619-621)CCA>CTA p.P207L NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 207 meiosis cytosol|nucleus ovary(1) 1 TTTCCATTTTGGAACAACAGT 0.453 NaN 0 0 0 0.054565 0 30 61 SLC19A1 6573 broad.mit.edu 37 21 46951324 46951324 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr21:46951324C>T uc002zhl.1 - 3 1047 c.928G>A c.(928-930)GAT>AAT p.D310N SLC19A1_uc010gpy.1_Missense_Mutation_p.D310N|SLC19A1_uc011aft.1_Missense_Mutation_p.D270N|SLC19A1_uc002zhm.1_Missense_Mutation_p.D310N|SLC19A1_uc010gpz.1_Missense_Mutation_p.D189N NM_194255 NP_919231 P41440 S19A1_HUMAN solute carrier family 19 member 1 310 Helical; (Probable). folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity 0 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GAGGCAGCATCTGCCGCGCCG 0.662 NaN 0 0 0 0.037714 0 28 78 THOC5 8563 broad.mit.edu 37 22 29917011 29917011 + Missense_Mutation SNP T T C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr22:29917011T>C uc003afr.2 - 14 1588 c.1253A>G c.(1252-1254)AAT>AGT p.N418S THOC5_uc003afq.2_Missense_Mutation_p.N79S|THOC5_uc003afs.2_Missense_Mutation_p.N418S|THOC5_uc003aft.2_Missense_Mutation_p.N418S|THOC5_uc003afu.2_Missense_Mutation_p.N418S|THOC5_uc010gvo.2_Missense_Mutation_p.N162S NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 418 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 CTGATACTGATTGGCTGGATT 0.463 NaN 0 0 0 0.048971 0 67 153 ASCC2 84164 broad.mit.edu 37 22 30198142 30198142 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr22:30198142G>A uc003agr.2 - 14 1514 c.1409C>T c.(1408-1410)TCT>TTT p.S470F ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.S470F|ASCC2_uc011akr.1_Missense_Mutation_p.S394F NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 470 CUE. regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GGAGATGAGAGAGTCCAGTTC 0.607 NaN 0 0 0 0.037714 0 27 46 APOBEC3H 164668 broad.mit.edu 37 22 39497957 39497957 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr22:39497957C>T uc011aoh.1 + 4 519 c.453C>T c.(451-453)CAC>CAT p.H151H APOBEC3H_uc011aoi.1_RNA|APOBEC3H_uc003axa.3_RNA NM_181773 NP_861438 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 151 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Melanoma(58;0.04) TTGTGGACCACGAGAAACCGC 0.522 NaN 0 0 0 0.030593 0 28 52 LRRN1 57633 broad.mit.edu 37 3 3886477 3886477 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:3886477G>A uc003bpt.3 + 2 913 c.152G>A c.(151-153)AGA>AAA p.R51K SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 51 LRRNT.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TCAACTTACAGAGAAGCCACC 0.438 NaN 0 0 0 0.080422 0 37 92 IL17RC 84818 broad.mit.edu 37 3 9974314 9974314 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:9974314C>T uc003bua.2 + 17 1859 c.1623C>T c.(1621-1623)CTC>CTT p.L541L CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Silent_p.L470L|IL17RC_uc011atp.1_Silent_p.L309L|IL17RC_uc003bud.2_Silent_p.L11L|IL17RC_uc003bub.2_Silent_p.L455L|IL17RC_uc010hct.2_Silent_p.L470L|IL17RC_uc010hcu.2_Silent_p.L453L|IL17RC_uc010hcv.2_Silent_p.L438L|IL17RC_uc011atq.1_Silent_p.L455L|IL17RC_uc003buc.2_Silent_p.L11L|IL17RC_uc003bue.2_Silent_p.L106L|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 541 Helical; (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GCTGGGCCCTCGTGTGGCTGG 0.532 NaN OREG0015383 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.054565 0 32 77 SMARCC1 6599 broad.mit.edu 37 3 47717003 47717003 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:47717003G>C uc003crq.2 - 18 1919 c.1801C>G c.(1801-1803)CTC>GTC p.L601V SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.L492V NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 601 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 skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCAGTACGGAGACCAAAGTTC 0.378 NaN 0 0 0 0.038395 0 16 36 IP6K2 51447 broad.mit.edu 37 3 48732710 48732710 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:48732710G>A uc003cup.2 - 2 259 c.15C>T c.(13-15)TTC>TTT p.F5F IP6K2_uc003cuq.2_Silent_p.F5F|IP6K2_uc011bbq.1_Silent_p.F5F|IP6K2_uc011bbr.1_Silent_p.F5F|IP6K2_uc003cur.2_Silent_p.F5F|IP6K2_uc003cus.2_Silent_p.F5F|IP6K2_uc003cut.2_RNA|IP6K2_uc011bbs.1_RNA|IP6K2_uc011bbt.1_Silent_p.F60F|IP6K2_uc003cuv.1_Nonsense_Mutation_p.Q131*|IP6K2_uc011bbu.1_Silent_p.F59F|IP6K2_uc011bbv.1_Silent_p.F63F|IP6K2_uc003cuw.1_Nonsense_Mutation_p.Q130* NM_001005909 NP_001005909 Q9UHH9 IP6K2_HUMAN inositol hexaphosphate kinase 2 isoform a 5 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity 0 CCATGGCCCTGAAGGCTGGGC 0.637 NaN 0 0 0 0.069288 0 24 26 ACTR8 93973 broad.mit.edu 37 3 53907147 53907147 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:53907147G>A uc003dhd.2 - 9 1132 c.1073C>T c.(1072-1074)TCT>TTT p.S358F ACTR8_uc003dhb.2_Missense_Mutation_p.S63F|ACTR8_uc003dhc.2_Missense_Mutation_p.S247F NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 358 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) CTGAAGCCCAGAGATGTCCTG 0.418 NaN 0 0 0 0.080935 0 10 14 OR5H14 403273 broad.mit.edu 37 3 97868522 97868522 + Missense_Mutation SNP A A C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:97868522A>C uc003dsg.1 + 1 293 c.293A>C c.(292-294)AAG>ACG p.K98T NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCTGAATGCAAGATACAGTTG 0.383 NaN 0 0 0 0.048971 0 100 202 CASR 846 broad.mit.edu 37 3 121980624 121980624 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:121980624G>C uc003eev.3 + 4 1114 c.742G>C c.(742-744)GAT>CAT p.D248H CASR_uc003eew.3_Missense_Mutation_p.D248H NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 248 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCAGTACTCTGATGAGGAAGA 0.502 NaN 0 0 0 0.048971 0 60 157 PLXND1 23129 broad.mit.edu 37 3 129303367 129303367 + Silent SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:129303367G>C uc003emx.2 - 6 1990 c.1890C>G c.(1888-1890)CTC>CTG p.L630L NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 630 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CCATGCCACTGAGGCTGGGCA 0.637 NaN 0 0 0 0.074837 0 38 54 PAQR9 344838 broad.mit.edu 37 3 142681210 142681210 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr3:142681210G>A uc003evg.2 - 1 969 c.969C>T c.(967-969)TAC>TAT p.Y323Y PAQR9_uc003evf.1_RNA NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 323 Cytoplasmic (Potential). integral to membrane receptor activity 0 ACACCTGGTCGTAGATGCTGA 0.597 NaN 0 0 0 0.069234 0 11 108 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.076483 0 22 9 GABRA4 2557 broad.mit.edu 37 4 46967082 46967082 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr4:46967082G>C uc003gxg.2 - 8 1178 c.1039C>G c.(1039-1041)CAA>GAA p.Q347E NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 347 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTTCCATTTGAATATTGGTG 0.478 NaN 0 0 0 0.099896 0 26 68 AASDH 132949 broad.mit.edu 37 4 57220365 57220365 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr4:57220365C>G uc003hbn.2 - 8 1376 c.1223G>C c.(1222-1224)AGA>ACA p.R408T AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.R255T|AASDH_uc003hbo.2_Missense_Mutation_p.R308T|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.R408T|AASDH_uc003hbp.2_Missense_Mutation_p.R408T NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 408 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) AAAACACACTCTGTTTCTGCC 0.373 NaN 0 0 0 0.09319 0 12 51 RASA1 5921 broad.mit.edu 37 5 86672272 86672272 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr5:86672272C>G uc003kiw.2 + 16 2192 c.2074C>G c.(2074-2076)CTC>GTC p.L692V RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L515V|RASA1_uc011ctv.1_Missense_Mutation_p.L525V|RASA1_uc011ctw.1_Missense_Mutation_p.L526V|RASA1_uc010jaw.2_Missense_Mutation_p.L514V NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 692 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ATGGTTTCTGCTCAGCTCCCA 0.423 NaN 0 0 0 0.080935 0 12 17 PCDHB1 29930 broad.mit.edu 37 5 140432013 140432013 + Nonsense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr5:140432013C>T uc003lik.1 + 1 1035 c.958C>T c.(958-960)CAA>TAA p.Q320* NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 320 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATTGACATTCAAGCTACAGA 0.473 NaN 0 0 0 0.048971 0 52 42 MSH5 4439 broad.mit.edu 37 6 31712335 31712335 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr6:31712335G>A uc003nwv.1 + 8 739 c.660G>A c.(658-660)GTG>GTA p.V220V MSH5_uc003nwt.1_Silent_p.V237V|MSH5_uc003nwu.1_Silent_p.V220V|MSH5_uc003nww.1_Silent_p.V220V|MSH5_uc003nwx.1_Silent_p.V237V|MSH5_uc011dof.1_5'UTR NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 220 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 CTCATCTGGTGAACATAGATC 0.463 NaN Direct_reversal_of_damage|MMR 0 0 0 0.059317 0 33 49 EEF1A1 1915 broad.mit.edu 37 6 74229729 74229729 + Silent SNP A A G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr6:74229729A>G uc003phi.2 - 1 58 c.21T>C c.(19-21)CAT>CAC p.H7H EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Silent_p.H7H|EEF1A1_uc003phf.2_Silent_p.H7H|EEF1A1_uc003phg.2_Silent_p.H7H|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Silent_p.H7H|EEF1A1_uc003phk.2_Silent_p.H7H|EEF1A1_uc003phl.2_Silent_p.H7H|EEF1A1_uc003phm.1_RNA NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 7 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 CAATGTTGATATGAGTCTTTT 0.423 NaN 0 0 0 0.034045 0 31 52 ZNF292 23036 broad.mit.edu 37 6 87967337 87967337 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr6:87967337C>T uc003plm.3 + 8 4031 c.3990C>T c.(3988-3990)TTC>TTT p.F1330F NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CAAATAACTTCAGTAGCACCA 0.428 NaN 0 0 0 0.014758 0 5 12 TIAM2 26230 broad.mit.edu 37 6 155566797 155566797 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr6:155566797C>T uc003qqb.2 + 21 4857 c.3584C>T c.(3583-3585)GCG>GTG p.A1195V TIAM2_uc003qqe.2_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.2_Missense_Mutation_p.A728V|TIAM2_uc003qqf.2_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.2_Missense_Mutation_p.A507V|TIAM2_uc003qqh.2_Missense_Mutation_p.A120V NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1195 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTTTATTACGCGGACCACTTT 0.403 NaN 0 0 0 0.048971 0 86 217 SNX9 51429 broad.mit.edu 37 6 158330750 158330750 + Silent SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr6:158330750G>C uc003qqv.1 + 8 932 c.759G>C c.(757-759)GTG>GTC p.V253V NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 253 PX. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) TTGACTGTGTGGTAGCAGATC 0.393 NaN 0 0 0 0.041601 0 32 77 POLD2 5425 broad.mit.edu 37 7 44157603 44157603 + Missense_Mutation SNP A A T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:44157603A>T uc010kxz.2 - 4 931 c.281T>A c.(280-282)GTG>GAG p.V94E POLD2_uc003tke.3_Missense_Mutation_p.V94E|POLD2_uc010kya.2_Missense_Mutation_p.V94E|POLD2_uc003tkf.3_Missense_Mutation_p.V94E NM_006230 NP_006221 P49005 DPOD2_HUMAN DNA-directed DNA polymerase delta 2 94 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding ovary(2) 2 CAGAGTGCCCACCACACAGCA 0.622 NaN 0 0 0 0.064281 0 37 59 AUTS2 26053 broad.mit.edu 37 7 70255358 70255358 + Silent SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:70255358C>T uc003tvw.3 + 19 3899 c.3156C>T c.(3154-3156)ATC>ATT p.I1052I AUTS2_uc003tvx.3_Silent_p.I1028I|AUTS2_uc011keg.1_Silent_p.I504I NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1052 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TCATGGGCATCAGCCCCCTCC 0.622 NaN 0 0 0 0.02938 0 6 23 HEPACAM2 253012 broad.mit.edu 37 7 92848628 92848628 + Missense_Mutation SNP T T A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:92848628T>A uc003umm.2 - 2 239 c.216A>T c.(214-216)AGA>AGT p.R72S HEPACAM2_uc003uml.2_Missense_Mutation_p.R60S|HEPACAM2_uc010lff.2_Missense_Mutation_p.R60S|HEPACAM2_uc011khy.1_Missense_Mutation_p.R95S NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 72 Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 TTGTGTGGGGTCTCTCAAATA 0.498 NaN 0 0 0 0.041601 0 32 60 ASB4 51666 broad.mit.edu 37 7 95165854 95165854 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:95165854G>A uc011kij.1 + 4 1084 c.1084G>A c.(1084-1086)GAC>AAC p.D362N NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 362 intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CCCCGATGATGACTTGGAGGT 0.388 NaN 0 0 0 0.105934 0 13 37 LMTK2 22853 broad.mit.edu 37 7 97821587 97821587 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:97821587G>C uc003upd.1 + 11 2103 c.1810G>C c.(1810-1812)GAG>CAG p.E604Q NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 604 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGTACAGATGAGGACTTCTT 0.517 NaN 0 0 0 0.043863 0 19 39 MLL5 55904 broad.mit.edu 37 7 104730618 104730618 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:104730618G>A uc003vcm.2 + 14 2055 c.1521G>A c.(1519-1521)CAG>CAA p.Q507Q MLL5_uc010lja.1_Silent_p.Q361Q|MLL5_uc010ljb.1_Silent_p.Q507Q|MLL5_uc003vcl.2_Silent_p.Q507Q|MLL5_uc010ljc.2_Silent_p.Q507Q|MLL5_uc003vco.1_RNA|MLL5_uc010ljd.1_3'UTR NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 507 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 CACAAAATCAGAATATTACTT 0.328 NaN 0 0 0 0.034045 0 30 65 MLL5 55904 broad.mit.edu 37 7 104731737 104731737 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:104731737G>A uc003vcm.2 + 15 2232 c.1698G>A c.(1696-1698)CAG>CAA p.Q566Q MLL5_uc003vcl.2_Silent_p.Q566Q|MLL5_uc010ljc.2_Silent_p.Q566Q NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 566 Potential. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 CAGAGGAGCAGATTGCAGAAA 0.378 NaN 0 0 0 0.058154 0 5 28 MLL5 55904 broad.mit.edu 37 7 104731744 104731744 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:104731744G>A uc003vcm.2 + 15 2239 c.1705G>A c.(1705-1707)GAA>AAA p.E569K MLL5_uc003vcl.2_Missense_Mutation_p.E569K|MLL5_uc010ljc.2_Missense_Mutation_p.E569K NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 569 Potential. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 GCAGATTGCAGAAAGGAAAAG 0.383 NaN 0 0 0 0.058154 0 4 27 MLL5 55904 broad.mit.edu 37 7 104731755 104731755 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:104731755G>A uc003vcm.2 + 15 2250 c.1716G>A c.(1714-1716)AGG>AGA p.R572R MLL5_uc003vcl.2_Silent_p.R572R|MLL5_uc010ljc.2_Silent_p.R572R NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 572 Potential. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 AAAGGAAAAGGAAGATGGTAA 0.373 NaN 0 0 0 0.038147 0 4 23 OR6V1 346517 broad.mit.edu 37 7 142750161 142750161 + Missense_Mutation SNP C C A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr7:142750161C>A uc011ksv.1 + 1 724 c.724C>A c.(724-726)CAC>AAC p.H242N NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) TTGCGGGTCTCACCTCACACT 0.552 NaN 1 0 1.07234e-20 0.048971 1.15178e-20 50 120 UBR5 51366 broad.mit.edu 37 8 103357737 103357737 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr8:103357737G>C uc003ykr.1 - 8 806 c.773C>G c.(772-774)TCT>TGT p.S258C UBR5_uc003yks.1_Missense_Mutation_p.S258C NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 258 S -> Y (in Ref. 2; AAF88143). cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGGGTGGGCAGAATGAATGTC 0.413 NaN 0 0 0 0.080935 0 10 25 UBR5 51366 broad.mit.edu 37 8 103357753 103357753 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr8:103357753C>G uc003ykr.1 - 8 790 c.757G>C c.(757-759)GAT>CAT p.D253H UBR5_uc003yks.1_Missense_Mutation_p.D253H NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 253 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ATGTCGGCATCAAGGAGAGAC 0.403 NaN 0 0 0 0.028581 0 13 25 CPSF1 29894 broad.mit.edu 37 8 145624217 145624217 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr8:145624217G>A uc003zcj.2 - 17 1665 c.1590C>T c.(1588-1590)CCC>CCT p.P530P NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 530 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CATAGCAGCCGGGAAGCTCAA 0.637 NaN 0 0 0 0.038147 0 6 159 BSPRY 54836 broad.mit.edu 37 9 116132396 116132396 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:116132396G>C uc004bhg.3 + 6 1231 c.1183G>C c.(1183-1185)GAT>CAT p.D395H BSPRY_uc010muw.2_3'UTR NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 395 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1) 1 TGCTGTGGCCGATCAGACCAT 0.592 NaN 0 0 0 0.104719 0 39 30 COL27A1 85301 broad.mit.edu 37 9 116999271 116999271 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:116999271G>A uc011lxl.1 + 18 2630 c.2630G>A c.(2629-2631)GGG>GAG p.G877E COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 877 Collagen-like 5.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GGGAGCCAGGGGTTGCCAGGG 0.622 NaN 0 0 0 0.09319 0 12 10 SPTAN1 6709 broad.mit.edu 37 9 131370245 131370245 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131370245G>A uc004bvl.3 + 33 4374 c.4261G>A c.(4261-4263)GAT>AAT p.D1421N SPTAN1_uc004bvm.3_Missense_Mutation_p.D1421N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1401N NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1421 Spectrin 15. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GCAGAAACTTGATATTCTTGA 0.547 NaN 0 0 0 0.034045 0 29 18 SPTAN1 6709 broad.mit.edu 37 9 131370275 131370275 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131370275G>C uc004bvl.3 + 33 4404 c.4291G>C c.(4291-4293)GAG>CAG p.E1431Q SPTAN1_uc004bvm.3_Missense_Mutation_p.E1431Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1411Q NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1431 Spectrin 15. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGCAGACCTGGAGAAGGCCTG 0.532 NaN 0 0 0 0.034045 0 30 28 SPTAN1 6709 broad.mit.edu 37 9 131370487 131370487 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131370487G>A uc004bvl.3 + 34 4536 c.4423G>A c.(4423-4425)GAC>AAC p.D1475N SPTAN1_uc004bvm.3_Missense_Mutation_p.D1475N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1455N NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1475 Spectrin 16. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AGACAAAGGAGACTCACTGGA 0.522 NaN 0 0 0 0.048971 0 82 62 SPTAN1 6709 broad.mit.edu 37 9 131371219 131371219 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131371219G>A uc004bvl.3 + 35 4671 c.4558G>A c.(4558-4560)GGA>AGA p.G1520R SPTAN1_uc004bvm.3_Missense_Mutation_p.G1520R|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1500R NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1520 Spectrin 16. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TTATGCCAAGGGAGACATTTC 0.552 NaN 0 0 0 0.048971 0 46 92 SPTAN1 6709 broad.mit.edu 37 9 131371243 131371243 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131371243G>A uc004bvl.3 + 35 4695 c.4582G>A c.(4582-4584)GAG>AAG p.E1528K SPTAN1_uc004bvm.3_Missense_Mutation_p.E1528K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1508K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1528 Spectrin 16. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CCGGCGCAATGAGGTCTTGGA 0.572 NaN 0 0 0 0.069456 0 37 64 SPTAN1 6709 broad.mit.edu 37 9 131371429 131371429 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131371429G>A uc004bvl.3 + 36 4737 c.4624G>A c.(4624-4626)GAG>AAG p.E1542K SPTAN1_uc004bvm.3_Missense_Mutation_p.E1542K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1522K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1542 Spectrin 16. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CCAGATGATTGAGAAAAGGTC 0.473 NaN 0 0 0 0.037714 0 30 37 SPTAN1 6709 broad.mit.edu 37 9 131371495 131371495 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131371495G>A uc004bvl.3 + 36 4803 c.4690G>A c.(4690-4692)GAG>AAG p.E1564K SPTAN1_uc004bvm.3_Missense_Mutation_p.E1564K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1544K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1564 Spectrin 17. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GGATGAGATTGAGGCTTGGAT 0.478 NaN 0 0 0 0.037714 0 28 21 SPTAN1 6709 broad.mit.edu 37 9 131374105 131374105 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131374105G>A uc004bvl.3 + 37 4984 c.4871G>A c.(4870-4872)GGC>GAC p.G1624D SPTAN1_uc004bvm.3_Missense_Mutation_p.G1629D|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1604D NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1624 Spectrin 17. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GCCTGTGCCGGCAGTGAGGAT 0.557 NaN 0 0 0 0.055883 0 14 21 SPTAN1 6709 broad.mit.edu 37 9 131374110 131374110 + Missense_Mutation SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131374110G>A uc004bvl.3 + 37 4989 c.4876G>A c.(4876-4878)GAG>AAG p.E1626K SPTAN1_uc004bvm.3_Missense_Mutation_p.E1631K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1606K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1626 Spectrin 17. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGCCGGCAGTGAGGATGCTGT 0.557 NaN 0 0 0 0.043863 0 13 19 SPTAN1 6709 broad.mit.edu 37 9 131377919 131377919 + Silent SNP G G A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131377919G>A uc004bvl.3 + 40 5255 c.5142G>A c.(5140-5142)CTG>CTA p.L1714L SPTAN1_uc004bvm.3_Silent_p.L1719L|SPTAN1_uc004bvn.3_Silent_p.L1694L NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1714 Spectrin 18. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AGGATCGCCTGAAGGACCTGA 0.542 NaN 0 0 0 0.038395 0 16 23 SPTAN1 6709 broad.mit.edu 37 9 131378027 131378027 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131378027G>C uc004bvl.3 + 40 5363 c.5250G>C c.(5248-5250)AAG>AAC p.K1750N SPTAN1_uc004bvm.3_Missense_Mutation_p.K1755N|SPTAN1_uc004bvn.3_Missense_Mutation_p.K1730N NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1750 Spectrin 18. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AGAAGATCAAGAGCATGGCGG 0.567 NaN 0 0 0 0.069288 0 24 30 SPTAN1 6709 broad.mit.edu 37 9 131378038 131378038 + Missense_Mutation SNP C C T TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131378038C>T uc004bvl.3 + 40 5374 c.5261C>T c.(5260-5262)GCC>GTC p.A1754V SPTAN1_uc004bvm.3_Missense_Mutation_p.A1759V|SPTAN1_uc004bvn.3_Missense_Mutation_p.A1734V NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1754 Spectrin 18. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AGCATGGCGGCCTCCCGGCGA 0.572 NaN 0 0 0 0.049695 0 21 27 LUZP1 7798 broad.mit.edu 37 1 23419916 23419916 + Frame_Shift_Del DEL T T - TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr1:23419916delT uc001bgk.2 - 4 1223 c.839delA c.(838-840)AACfs p.N280fs LUZP1_uc010odv.1_Frame_Shift_Del_p.N280fs|LUZP1_uc001bgl.2_Frame_Shift_Del_p.N280fs|LUZP1_uc001bgm.1_Frame_Shift_Del_p.N280fs NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 280 Potential. nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CTGATTGCGGTTCTTTTCATT 0.393 NaN NaN NaN NaN NaN NaN 23 94 --- --- C15orf52 388115 broad.mit.edu 37 15 40630039 40630040 + Frame_Shift_Ins INS - - C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr15:40630039_40630040insC uc001zlh.3 - 6 716_717 c.700_701insG c.(700-702)GACfs p.D234fs C15orf52_uc001zli.1_Frame_Shift_Ins_p.D166fs|C15orf52_uc010ucn.1_Frame_Shift_Ins_p.D24fs NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 234 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CTGGGCATAGTCCCAGCCCGCC 0.693 NaN NaN NaN NaN NaN NaN 9 32 --- --- SEMA4B 10509 broad.mit.edu 37 15 90771602 90771602 + Frame_Shift_Del DEL C C - TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr15:90771602delC uc002boy.2 + 15 2524 c.2241delC c.(2239-2241)TTCfs p.F747fs SEMA4B_uc002boz.2_Frame_Shift_Del_p.F747fs|SEMA4B_uc010uqd.1_Frame_Shift_Del_p.F585fs|SEMA4B_uc002bpa.2_Frame_Shift_Del_p.F585fs|SEMA4B_uc010bnv.1_Intron NM_020210 NP_064595 semaphorin 4B precursor ovary(1)|breast(1)|kidney(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) TGAAAGTCTTCCTGAAGCAGG 0.612 NaN NaN NaN NaN NaN NaN 16 26 --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr4:4228274_4228282delCCACAGCAG uc003ghp.1 - 1 340_348 c.310_318delCTGCTGTGG c.(310-318)CTGCTGTGGdel p.LLW104del NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 104_106 Helical; (Potential). biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 NaN NaN NaN NaN NaN NaN 8 23 --- --- EEF1A1 1915 broad.mit.edu 37 6 74229695 74229696 + Frame_Shift_Ins INS - - CGAATCTA TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr6:74229695_74229696insCGAATCTA uc003phi.2 - 1 91_92 c.54_55insTAGATTCG c.(52-57)TCGGGCfs p.S18fs EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phf.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phg.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phk.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phl.2_Frame_Shift_Ins_p.S18fs|EEF1A1_uc003phm.1_RNA NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 18_19 GTP (By similarity). cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 GTGGACTTGCCCGAATCTACGT 0.416 NaN NaN NaN NaN NaN NaN 25 76 --- --- SPTAN1 6709 broad.mit.edu 37 9 131371153 131371154 + Frame_Shift_Ins INS - - A TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chr9:131371153_131371154insA uc004bvl.3 + 35 4605_4606 c.4492_4493insA c.(4492-4494)GAAfs p.E1498fs SPTAN1_uc004bvm.3_Frame_Shift_Ins_p.E1498fs|SPTAN1_uc004bvn.3_Frame_Shift_Ins_p.E1478fs NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1498 Spectrin 16. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TTTCTGACAGGAAGAGAAGATT 0.54 NaN NaN NaN NaN NaN NaN 50 128 --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81697c0-54af-4f8a-88c4-36934f163f5f 77e72aa6-bc4a-4382-9a91-4f882d28c906 g.chrX:51239296_51239309delTCCTCGAGGCAGCC uc010njt.2 - 1 NM_018159 NP_060629 Q96G61 NUD11_HUMAN nudix-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.584 NaN HNSCC(48;0.14) NaN NaN NaN NaN NaN 4 7 --- ---