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 SAMD11 148398 broad.mit.edu 37 1 865617 865617 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:865617C>G uc001abw.1 + 3 235 c.155C>G c.(154-156)TCT>TGT p.S52C SAMD11_uc001abv.1_Missense_Mutation_p.S52C NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 52 nucleus 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CCCAGCTTCTCTGCCAGCGAT 0.597 NaN 0 0 0 0.001984 0 6 20 TAS1R1 80835 broad.mit.edu 37 1 6639125 6639125 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:6639125C>G uc001ant.2 + 6 2007 c.2007C>G c.(2005-2007)TTC>TTG p.F669L TAS1R1_uc001anu.2_Missense_Mutation_p.F415L|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 669 Cytoplasmic (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TACCTACATTCTACCACGCCT 0.522 NaN 0 0 0 0.009718 0 37 83 TAS1R1 80835 broad.mit.edu 37 1 6639332 6639332 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:6639332C>T uc001ant.2 + 6 2214 c.2214C>T c.(2212-2214)CTC>CTT p.L738L TAS1R1_uc001anu.2_Silent_p.L484L|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 738 Helical; Name=5; (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) ATGGCCTCCTCTCCATCAGTG 0.542 NaN 0 0 0 0.006122 0 18 48 TAS1R1 80835 broad.mit.edu 37 1 6639338 6639338 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:6639338C>T uc001ant.2 + 6 2220 c.2220C>T c.(2218-2220)ATC>ATT p.I740I TAS1R1_uc001anu.2_Silent_p.I486I|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 740 Helical; Name=5; (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TCCTCTCCATCAGTGCCTTTG 0.547 NaN 0 0 0 0.00499 0 18 52 PTCHD2 57540 broad.mit.edu 37 1 11561856 11561856 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:11561856G>A uc001ash.3 + 2 945 c.807G>A c.(805-807)ACG>ACA p.T269T PTCHD2_uc001asi.1_Silent_p.T269T NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 269 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ACACTCAGACGCACGCGCACT 0.677 NaN 0 0 0 0.001368 0 12 20 LHX8 431707 broad.mit.edu 37 1 75609605 75609605 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:75609605G>A uc001dgo.2 + 7 1350 c.686G>A c.(685-687)CGG>CAG p.R229Q LHX8_uc001dgq.2_Missense_Mutation_p.R168Q NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 229 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AAAAGAGCTCGGACCAGCTTT 0.403 NaN 0 0 0 0.001855 0 14 37 ODF2L 57489 broad.mit.edu 37 1 86842058 86842058 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:86842058A>G uc001dll.1 - 8 1008 c.668T>C c.(667-669)ATG>ACG p.M223T ODF2L_uc001dlm.1_Missense_Mutation_p.M223T|ODF2L_uc001dln.2_Missense_Mutation_p.M223T|ODF2L_uc001dlo.2_Missense_Mutation_p.M92T|ODF2L_uc001dlp.2_Missense_Mutation_p.M223T|ODF2L_uc010osg.1_Missense_Mutation_p.M223T|ODF2L_uc001dlq.1_Missense_Mutation_p.M53T|ODF2L_uc009wcr.1_Missense_Mutation_p.M92T NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 223 centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) ATTCTTATTCATTCTTGATTG 0.313 NaN 0 0 0 0.001368 0 11 25 KIAA1324 57535 broad.mit.edu 37 1 109732234 109732234 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:109732234C>T uc001dwq.2 + 12 1505 c.1369C>T c.(1369-1371)CAC>TAC p.H457Y KIAA1324_uc009wex.1_Missense_Mutation_p.H407Y|KIAA1324_uc009wey.2_Missense_Mutation_p.H370Y|KIAA1324_uc010ovg.1_Missense_Mutation_p.H355Y|KIAA1324_uc001dwr.2_Missense_Mutation_p.H107Y NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 457 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GGCTGGTGATCACATTTACAC 0.517 NaN 0 0 0 0.00499 0 15 21 DDX20 11218 broad.mit.edu 37 1 112308378 112308378 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:112308378G>C uc001ebs.2 + 11 1689 c.1332G>C c.(1330-1332)CTG>CTC p.L444L DDX20_uc010owf.1_Silent_p.L206L|DDX20_uc001ebt.2_Silent_p.L52L NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 444 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCTGGTCTGATGGAAGAAT 0.353 NaN 0 0 0 0.004878 0 38 74 BCL9 607 broad.mit.edu 37 1 147090999 147090999 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:147090999G>C uc001epq.2 + 8 1778 c.1038G>C c.(1036-1038)GAG>GAC p.E346D BCL9_uc010ozr.1_Missense_Mutation_p.E272D NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 346 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CACTGGGAGAGAATCCCGATG 0.577 NaN T IGH@|IGL@ B-ALL 0 0 0 0.00361 0 74 167 HAX1 10456 broad.mit.edu 37 1 154245817 154245817 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:154245817G>A uc001fes.2 + 2 220 c.59G>A c.(58-60)AGA>AAA p.R20K HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_Missense_Mutation_p.R20K|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_5'UTR NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 20 Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTCAGCCACAGAGATCCCTTT 0.493 NaN Kostmann_syndrome 0 0 0 0.009535 0 31 114 C1orf114 57821 broad.mit.edu 37 1 169390861 169390861 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:169390861C>G uc001gga.1 - 3 976 c.808G>C c.(808-810)GAA>CAA p.E270Q C1orf114_uc001gfz.1_Missense_Mutation_p.E270Q|C1orf114_uc009wvq.1_Missense_Mutation_p.E270Q|C1orf114_uc001ggb.2_Missense_Mutation_p.E270Q|C1orf114_uc001ggc.1_Missense_Mutation_p.E270Q NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 270 0 all_hematologic(923;0.208) GTAGAATCTTCTTTCTTGGTG 0.468 NaN 0 0 0 0.00361 0 50 170 METTL13 51603 broad.mit.edu 37 1 171753057 171753057 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:171753057C>T uc001ghz.2 + 2 678 c.331C>T c.(331-333)CCT>TCT p.P111S METTL13_uc001gia.2_Missense_Mutation_p.P25S|METTL13_uc001gib.2_Missense_Mutation_p.P111S|METTL13_uc010pml.1_Missense_Mutation_p.P110S NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 111 methyltransferase activity|protein binding kidney(1) 1 GATGGAGTTTCCTGATGCCTC 0.527 NaN 0 0 0 0.008871 0 21 75 RC3H1 149041 broad.mit.edu 37 1 173930937 173930937 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:173930937C>G uc001gju.3 - 11 2215 c.2128G>C c.(2128-2130)GAA>CAA p.E710Q RC3H1_uc010pms.1_Missense_Mutation_p.E710Q|RC3H1_uc001gjv.2_Missense_Mutation_p.E710Q|RC3H1_uc010pmt.1_Missense_Mutation_p.E710Q NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 710 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TGGTATCTTTCTCTGGATTCT 0.438 NaN 0 0 0 0.00361 0 59 196 LAMC1 3915 broad.mit.edu 37 1 183096408 183096408 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:183096408G>A uc001gpy.3 + 17 3249 c.2992G>A c.(2992-2994)GAT>AAT p.D998N NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 998 Laminin EGF-like 11. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGCAAAGATGATGGTCGCTG 0.433 NaN 0 0 0 0.00499 0 18 54 C1orf26 54823 broad.mit.edu 37 1 185130013 185130013 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:185130013C>G uc001grg.3 + 2 154 c.40C>G c.(40-42)CAG>GAG p.Q14E C1orf26_uc001grh.3_Missense_Mutation_p.Q14E NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 14 0 AGAGACATCTCAGAGGAAAGA 0.323 NaN 0 0 0 0.008871 0 15 51 CHIT1 1118 broad.mit.edu 37 1 203192777 203192777 + Missense_Mutation SNP A A T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:203192777A>T uc001gzn.2 - 5 422 c.326T>A c.(325-327)ATG>AAG p.M109K FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.M100K NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 109 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 CGTGGCTACCATATCTGTGAA 0.542 NaN 0 0 0 0.00361 0 51 180 REN 5972 broad.mit.edu 37 1 204125342 204125342 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:204125342G>A uc001haq.2 - 8 968 c.924C>T c.(922-924)CTC>CTT p.L308L NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 308 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) AGGCCTCCATGAGCTTCTCTA 0.562 NaN 0 0 0 0.00361 0 100 357 DISP1 84976 broad.mit.edu 37 1 223116319 223116319 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:223116319C>T uc001hnu.1 + 2 301 c.154C>T c.(154-156)CCA>TCA p.P52S NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 52 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AAAAGTGAGTCCAAATGGATG 0.512 NaN 0 0 0 0.001882 0 22 78 C1orf35 79169 broad.mit.edu 37 1 228288840 228288840 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:228288840C>T uc001hrx.2 - 8 878 c.784G>A c.(784-786)GAG>AAG p.E262K C1orf35_uc009xew.2_RNA NM_024319 NP_077295 Q9BU76 MMTA2_HUMAN hypothetical protein LOC79169 262 E -> K (in Ref. 1; AAN15215). 0 Prostate(94;0.0488) CATCAGGCCTCAGAGCCTCTG 0.627 NaN 0 0 0 0.002522 0 44 108 OBSCN 84033 broad.mit.edu 37 1 228556048 228556048 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:228556048C>T uc009xez.1 + 88 19742 c.19698C>T c.(19696-19698)GTC>GTT p.V6566V OBSCN_uc001hsr.1_Silent_p.V1195V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6566 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGGTCAAGGTCTACATCCAGC 0.622 NaN 0 0 0 0.009096 0 4 9 EXOC8 149371 broad.mit.edu 37 1 231473425 231473425 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:231473425C>G uc001huq.2 - 1 154 c.67G>C c.(67-69)GAG>CAG p.E23Q C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 23 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) AGCCGCGCCTCAAAACCCCCT 0.667 NaN 0 0 0 0.004878 0 35 109 GAD2 2572 broad.mit.edu 37 10 26558051 26558051 + Silent SNP G G T rs149629039 byFrequency TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:26558051G>T uc001isp.2 + 9 1427 c.924G>T c.(922-924)GGG>GGT p.G308G GAD2_uc001isq.2_Silent_p.G308G NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 308 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CTTCCAGAGGGAAAATGATTC 0.403 NaN 1 0 9.16793e-09 0.00499 9.42801e-09 17 42 ARMC4 55130 broad.mit.edu 37 10 28196616 28196616 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:28196616G>C uc009xky.2 - 17 2684 c.2586C>G c.(2584-2586)CTC>CTG p.L862L ARMC4_uc010qds.1_Silent_p.L387L|ARMC4_uc010qdt.1_Silent_p.L554L|ARMC4_uc001itz.2_Silent_p.L862L NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 862 ARM 6. binding ovary(4)|skin(2) 6 TGCATGGACAGAGTGCCCATG 0.448 NaN 0 0 0 0.001882 0 21 37 ANK3 288 broad.mit.edu 37 10 61835134 61835134 + Silent SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:61835134T>A uc001jky.2 - 37 5697 c.5505A>T c.(5503-5505)GCA>GCT p.A1835A ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1835 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GTTTCTTTAATGCTGGTTCTG 0.413 NaN 0 0 0 0.00361 0 53 150 CDH23 64072 broad.mit.edu 37 10 73572328 73572328 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:73572328G>C uc001jrx.3 + 65 9849 c.9472G>C c.(9472-9474)GAG>CAG p.E3158Q CDH23_uc001jsg.3_Missense_Mutation_p.E918Q|CDH23_uc001jsh.3_Missense_Mutation_p.E918Q|CDH23_uc001jsi.3_Missense_Mutation_p.E918Q|CDH23_uc001jsj.3_Missense_Mutation_p.E55Q|CDH23_uc010qjr.1_Missense_Mutation_p.E55Q NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3158 Cytoplasmic (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GAACCTGAGTGAGATCGCCGA 0.642 NaN 0 0 0 0.00623 0 39 72 ENTPD7 57089 broad.mit.edu 37 10 101460767 101460767 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:101460767G>A uc001kqa.3 + 11 1551 c.1373G>A c.(1372-1374)AGA>AAA p.R458K ENTPD7_uc009xwl.2_Missense_Mutation_p.R460K NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 458 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) CTAACTCAGAGATTCAAGAAT 0.443 NaN 0 0 0 0.00361 0 86 168 DCLRE1A 9937 broad.mit.edu 37 10 115609492 115609492 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:115609492G>A uc001law.2 - 2 2290 c.1372C>T c.(1372-1374)CTT>TTT p.L458F NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 458 Nuclear focus formation. cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) ACTAACGGAAGAGAAACTTGA 0.343 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.007413 0 19 38 DCLRE1A 9937 broad.mit.edu 37 10 115610376 115610376 + Nonsense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:115610376G>C uc001law.2 - 2 1406 c.488C>G c.(487-489)TCA>TGA p.S163* NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 163 Nuclear localization region. cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) AGGAATGGTTGAGGTACACAG 0.408 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.008291 0 9 20 STK32C 282974 broad.mit.edu 37 10 134059433 134059433 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr10:134059433G>A uc001lle.1 - 2 429 c.289C>T c.(289-291)CGG>TGG p.R97W STK32C_uc001lld.1_5'UTR|STK32C_uc010quu.1_Missense_Mutation_p.R110W|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 97 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCAATGGCCCGAAGGATCTGG 0.627 NaN 0 0 0 0.00333 0 22 58 B4GALNT4 338707 broad.mit.edu 37 11 376347 376347 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:376347G>A uc001lpb.2 + 13 1302 c.1293G>A c.(1291-1293)CCG>CCA p.P431P NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 431 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCTCAACCCGGACGGTGAGT 0.617 NaN 0 0 0 0.001368 0 12 46 OR52A4 390053 broad.mit.edu 37 11 5142584 5142584 + Silent SNP A A T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:5142584A>T uc001lzz.1 - 1 225 c.225T>A c.(223-225)ATT>ATA p.I75I OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TGCTAAGTGAAATGTCTGTGG 0.428 NaN 0 0 0 0.00499 0 18 53 DNHD1 144132 broad.mit.edu 37 11 6592276 6592276 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:6592276G>A uc001mdw.3 + 42 14098 c.13534G>A c.(13534-13536)GGC>AGC p.G4512S DNHD1_uc001mea.3_Missense_Mutation_p.G781S|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.G780S|DNHD1_uc010rao.1_Missense_Mutation_p.G770S|DNHD1_uc009yfg.2_Missense_Mutation_p.G137S NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4512 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCAGCTGAAGGGCGCACCCCC 0.682 NaN 0 0 0 0.003163 0 14 33 DGKZ 8525 broad.mit.edu 37 11 46398102 46398102 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:46398102C>T uc001ncn.1 + 25 2879 c.2754C>T c.(2752-2754)ATC>ATT p.I918I DGKZ_uc001nch.1_Silent_p.I746I|DGKZ_uc010rgq.1_Silent_p.I673I|DGKZ_uc001ncj.1_Silent_p.I696I|DGKZ_uc010rgr.1_Silent_p.I695I|DGKZ_uc001nck.1_Silent_p.I508I|DGKZ_uc001ncl.2_Silent_p.I730I|DGKZ_uc001ncm.2_Silent_p.I729I|DGKZ_uc009yky.1_Silent_p.I730I|DGKZ_uc010rgs.1_Silent_p.I707I NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 918 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding p.I746I(1) pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TCTACAGGATCGACCGAGCCC 0.672 NaN 0 0 0 0.002852 0 42 89 OR4P4 81300 broad.mit.edu 37 11 55406520 55406520 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:55406520G>C uc010rij.1 + 1 687 c.687G>C c.(685-687)GAG>GAC p.E229D NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 ACTCTGCAGAGAGACGCAGCA 0.383 NaN 0 0 0 0.004656 0 26 56 OR5F1 338674 broad.mit.edu 37 11 55761768 55761768 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:55761768A>G uc010riv.1 - 1 334 c.334T>C c.(334-336)TGC>CGC p.C112R NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AAGAGGATGCATTCGGTTGTC 0.473 NaN 0 0 0 0.007835 0 42 103 PLCB3 5331 broad.mit.edu 37 11 64032574 64032574 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:64032574C>T uc001nzb.2 + 23 2804 c.2804C>T c.(2803-2805)CCA>CTA p.P935L PLCB3_uc009ypg.1_Missense_Mutation_p.P935L|PLCB3_uc009yph.1_Missense_Mutation_p.P868L|PLCB3_uc009ypi.2_Missense_Mutation_p.P935L NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 935 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 CTCAGCAGCCCAGGTAAGGAG 0.721 NaN 0 0 0 0.009096 0 3 4 PLCB3 5331 broad.mit.edu 37 11 64033997 64033997 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:64033997C>T uc001nzb.2 + 29 3387 c.3387C>T c.(3385-3387)ATC>ATT p.I1129I PLCB3_uc009ypg.1_Silent_p.I1129I|PLCB3_uc009yph.1_Silent_p.I1062I|PLCB3_uc009ypi.2_Silent_p.I1129I NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 1129 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 GTCGGCACATCACTGAGTCAG 0.632 NaN 0 0 0 0.002096 0 28 57 SF3B2 10992 broad.mit.edu 37 11 65831159 65831159 + Silent SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:65831159C>G uc001ogy.1 + 19 2329 c.2289C>G c.(2287-2289)CTC>CTG p.L763L NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 763 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 CCCCTGAACTCATTGAGCTGA 0.537 NaN 0 0 0 0.003163 0 13 27 GSTP1 2950 broad.mit.edu 37 11 67353985 67353985 + Silent SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:67353985C>G uc001omf.2 + 7 819 c.570C>G c.(568-570)CTC>CTG p.L190L GSTP1_uc001omg.1_Silent_p.L171L NM_000852 NP_000843 P09211 GSTP1_HUMAN glutathione transferase 190 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding ovary(1) 1 Ethacrynic acid(DB00903)|Glutathione(DB00143) GGCCCAAGCTCAAGGCCTTCC 0.627 NaN 0 0 0 0.004007 0 17 28 GSTP1 2950 broad.mit.edu 37 11 67353995 67353995 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:67353995C>T uc001omf.2 + 7 829 c.580C>T c.(580-582)CTG>TTG p.L194L GSTP1_uc001omg.1_Silent_p.L175L NM_000852 NP_000843 P09211 GSTP1_HUMAN glutathione transferase 194 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding ovary(1) 1 Ethacrynic acid(DB00903)|Glutathione(DB00143) CAAGGCCTTCCTGGCCTCCCC 0.622 NaN 0 0 0 0.004007 0 16 23 PDE2A 5138 broad.mit.edu 37 11 72292403 72292403 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:72292403G>A uc010rrc.1 - 23 2286 c.2043C>T c.(2041-2043)CTC>CTT p.L681L PDE2A_uc001oso.2_Silent_p.L660L|PDE2A_uc010rra.1_Silent_p.L674L|PDE2A_uc001osn.2_Silent_p.L425L|PDE2A_uc010rrb.1_Silent_p.L672L|PDE2A_uc010rrd.1_Silent_p.L566L NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 681 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCACTCACTCGAGGTAGTTGG 0.532 NaN 0 0 0 0.006122 0 16 30 POLD3 10714 broad.mit.edu 37 11 74303737 74303737 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:74303737G>A uc001ovf.1 + 1 109 c.34G>A c.(34-36)GAG>AAG p.E12K POLD3_uc009yua.1_5'UTR NM_006591 NP_006582 Q15054 DPOD3_HUMAN DNA-directed DNA polymerase delta 3 12 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|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 delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding kidney(2)|ovary(1) 3 Breast(11;3.21e-06) AAATATAGACGAGTTCGTCAC 0.642 NaN 0 0 0 0.003163 0 15 18 FAT3 120114 broad.mit.edu 37 11 92531056 92531056 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:92531056G>A uc001pdj.3 + 9 4894 c.4877G>A c.(4876-4878)TGC>TAC p.C1626Y NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1626 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATCACCATTTGCAAAGAACCA 0.453 NaN TCGA Ovarian(4;0.039) 0 0 0 0.00361 0 47 73 SIK3 23387 broad.mit.edu 37 11 116741051 116741052 + Nonsense_Mutation DNP GC GC AA TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:116741051_116741052GC>AA uc001ppy.2 - 14 1665_1666 c.1629_1630GC>TT c.(1627-1632)GTGCAG>GTTTAG p.Q544* SIK3_uc001ppz.2_Nonsense_Mutation_p.Q443*|SIK3_uc001pqa.2_Nonsense_Mutation_p.Q496*|SIK3_uc001ppx.2_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 544 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 CATTACCTCTGCACAGCTTCCT 0.594 NaN OREG0003489 type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.004672 0 12 27 OR10G4 390264 broad.mit.edu 37 11 123886665 123886665 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:123886665G>A uc010sac.1 + 1 384 c.384G>A c.(382-384)CCG>CCA p.P128P NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TCAGTTACCCGCTCAGGTACA 0.557 NaN 0 0 0 0.00361 0 50 125 GLB1L3 112937 broad.mit.edu 37 11 134181051 134181051 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:134181051C>G uc009zdf.2 + 13 1634 c.1274C>G c.(1273-1275)TCC>TGC p.S425C GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 425 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GACGCCCTATCCTACTTAAAT 0.582 NaN 0 0 0 0.00361 0 114 196 C12orf53 196500 broad.mit.edu 37 12 6806635 6806635 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:6806635C>T uc001qqf.1 - 3 417 c.341G>A c.(340-342)CGA>CAA p.R114Q C12orf53_uc001qqg.1_Missense_Mutation_p.R114Q NM_153685 NP_710152 Q8IYJ0 CL053_HUMAN hypothetical protein LOC196500 precursor 114 Extracellular (Potential). integral to membrane 0 TCCATCCTCTCGAGACACGGT 0.632 NaN 0 0 0 0.006122 0 16 24 ERGIC2 51290 broad.mit.edu 37 12 29498396 29498396 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:29498396G>A uc001riv.2 - 11 938 c.805C>T c.(805-807)CAG>TAG p.Q269* ERGIC2_uc001riw.2_RNA NM_016570 NP_057654 Q96RQ1 ERGI2_HUMAN PTX1 protein 269 Lumenal (Potential). vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus ovary(1) 1 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) ACAGAAAACTGATGGGTGTCT 0.303 NaN 0 0 0 0.002852 0 42 91 IPO8 10526 broad.mit.edu 37 12 30802107 30802107 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:30802107G>A uc001rjd.2 - 20 2402 c.2232C>T c.(2230-2232)GTC>GTT p.V744V IPO8_uc001rje.1_Silent_p.V233V|IPO8_uc010sjt.1_Silent_p.V539V NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 744 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GAAGAATGATGACTTCCAGAA 0.428 NaN 0 0 0 0.00623 0 37 77 DENND5B 160518 broad.mit.edu 37 12 31540716 31540716 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:31540716G>T uc001rki.1 - 21 3832 c.3646C>A c.(3646-3648)CGC>AGC p.R1216S DENND5B_uc001rkh.1_Missense_Mutation_p.R1251S|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1216 RUN 2. integral to membrane ovary(1)|central_nervous_system(1) 2 GGGAGCAGGCGATCCCTACAG 0.527 NaN 1 0 2.31682e-05 0.003163 2.34923e-05 15 31 MLL2 8085 broad.mit.edu 37 12 49427126 49427126 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:49427126G>A uc001rta.3 - 39 11362 c.11362C>T c.(11362-11364)CAG>TAG p.Q3788* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3788 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GACAGCTGCTGGACCAGGAGG 0.667 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.000602 0 5 6 FMNL3 91010 broad.mit.edu 37 12 50050233 50050233 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:50050233C>T uc001ruv.1 - 9 1073 c.839G>A c.(838-840)CGA>CAA p.R280Q FMNL3_uc001ruw.1_Missense_Mutation_p.R229Q|FMNL3_uc001ruu.1_Missense_Mutation_p.R130Q NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 280 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 GTGACCTCCTCGCACCAAACA 0.512 NaN 0 0 0 0.008291 0 10 32 MYF5 4617 broad.mit.edu 37 12 81111214 81111214 + Silent SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:81111214C>G uc001szg.2 + 1 507 c.372C>G c.(370-372)CTC>CTG p.L124L NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 124 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 TGGAGATCCTCAGGAATGCCA 0.597 NaN 0 0 0 0.00361 0 52 81 SLC17A8 246213 broad.mit.edu 37 12 100751235 100751235 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:100751235G>C uc010svi.1 + 1 379 c.66G>C c.(64-66)AAG>AAC p.K22N SLC17A8_uc009ztx.2_Missense_Mutation_p.K22N NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 22 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 AAGGAGTGAAGAACGCCGTGG 0.413 NaN 0 0 0 0.003755 0 36 88 C12orf48 55010 broad.mit.edu 37 12 102576369 102576369 + Missense_Mutation SNP A A T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr12:102576369A>T uc001tjf.2 + 9 1339 c.1227A>T c.(1225-1227)GAA>GAT p.E409D C12orf48_uc001tjg.2_Missense_Mutation_p.E328D|C12orf48_uc010swa.1_Missense_Mutation_p.E486D|C12orf48_uc001tjh.2_Missense_Mutation_p.E328D|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.E124D|C12orf48_uc001tjk.2_Missense_Mutation_p.E288D|C12orf48_uc009zud.2_Intron NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 409 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 CCCTAAGAGAACGCATCTGTG 0.264 NaN 0 0 0 0.001368 0 12 16 HMGB1 3146 broad.mit.edu 37 13 31037474 31037474 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr13:31037474C>G uc001usw.2 - 3 350 c.166G>C c.(166-168)GAG>CAG p.E56Q HMGB1_uc001usz.2_Missense_Mutation_p.E56Q|HMGB1_uc001usv.2_Missense_Mutation_p.E56Q|HMGB1_uc001usx.2_Missense_Mutation_p.E56Q|HMGB1_uc001usy.2_Intron|HMGB1_uc001uta.1_Missense_Mutation_p.E56Q NM_002128 NP_002119 P09429 HMGB1_HUMAN high-mobility group box 1 56 HMG box 1. base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding ovary(1) 1 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) TTTCCTTTCTCTTTAGCAGAC 0.333 NaN 0 0 0 0.008361 0 31 36 IRS2 8660 broad.mit.edu 37 13 110435362 110435362 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr13:110435362C>T uc001vqv.2 - 1 3553 c.3039G>A c.(3037-3039)CCG>CCA p.P1013P NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1013 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) acggcggATACGGGGAGGAGG 0.368 NaN 0 0 0 0.004672 0 3 2 TMEM55B 90809 broad.mit.edu 37 14 20929450 20929450 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:20929450G>A uc001vxl.2 - 1 188 c.35C>T c.(34-36)TCT>TTT p.S12F TMEM55B_uc001vxk.2_Missense_Mutation_p.S12F NM_144568 NP_653169 Q86T03 TM55B_HUMAN transmembrane protein 55B isoform 2 12 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) GATGGGCTCAGACAGCAGCGG 0.672 NaN 0 0 0 0.009096 0 3 4 PRMT5 10419 broad.mit.edu 37 14 23397792 23397792 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:23397792G>T uc001whm.1 - 2 234 c.143C>A c.(142-144)CCG>CAG p.P48Q PRMT5_uc001whl.1_Missense_Mutation_p.P31Q|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Intron|PRMT5_uc010tng.1_Missense_Mutation_p.P31Q|PRMT5_uc010tnh.1_Missense_Mutation_p.P48Q|PRMT5_uc001whn.1_Missense_Mutation_p.P31Q NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 48 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) CTTGAAACGCGGATGGAAGAC 0.537 NaN 1 0 3.01185e-09 0.003954 3.10831e-09 25 78 CPNE6 9362 broad.mit.edu 37 14 24543758 24543758 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:24543758G>C uc001wll.2 + 6 616 c.517G>C c.(517-519)GAC>CAC p.D173H CPNE6_uc010tnv.1_Missense_Mutation_p.D228H|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 173 C2 2. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) CAGCAAGTCTGACCCTTTCAT 0.547 NaN 0 0 0 0.003954 0 23 64 RALGAPA1 253959 broad.mit.edu 37 14 36121033 36121033 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:36121033G>A uc001wti.2 - 30 4527 c.4136C>T c.(4135-4137)TCA>TTA p.S1379L RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.S1379L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S1392L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1426L NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1379 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TTCATAAGATGAAGCCTCTGT 0.274 NaN 0 0 0 0.004656 0 25 64 FAM179B 23116 broad.mit.edu 37 14 45478126 45478126 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:45478126C>G uc001wvv.2 + 6 3124 c.2915C>G c.(2914-2916)TCT>TGT p.S972C FAM179B_uc001wvw.2_Missense_Mutation_p.S972C|FAM179B_uc010anc.2_Intron NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 972 Ser-rich. binding skin(2)|upper_aerodigestive_tract(1) 3 ATGCATAGCTCTCTTAGGTCC 0.338 NaN 0 0 0 0.008871 0 21 47 SIPA1L1 26037 broad.mit.edu 37 14 72125097 72125097 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:72125097G>A uc001xms.2 + 6 2389 c.2041G>A c.(2041-2043)GAA>AAA p.E681K SIPA1L1_uc001xmt.2_Missense_Mutation_p.E681K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E681K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E681K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E156K NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 681 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CAAAGATTATGAAATTATGTT 0.348 NaN 0 0 0 0.00333 0 20 35 LTBP2 4053 broad.mit.edu 37 14 75017811 75017811 + Nonsense_Mutation SNP G G A rs137854855 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:75017811G>A uc001xqa.2 - 7 2029 c.1642C>T c.(1642-1644)CGA>TGA p.R548* NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 548 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGCAGTCCTCGAGGCCTGGGT 0.652 NaN 0 0 0 0.003163 0 15 39 TRIP11 9321 broad.mit.edu 37 14 92471361 92471361 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:92471361G>C uc001xzy.2 - 11 3747 c.2959C>G c.(2959-2961)CAA>GAA p.Q987E TRIP11_uc010auf.1_Missense_Mutation_p.Q723E NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 987 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTATCTGTTTGAATGTCCTGT 0.333 NaN T PDGFRB AML 0 0 0 0.003163 0 15 36 SERPINA12 145264 broad.mit.edu 37 14 94964104 94964104 + Missense_Mutation SNP G G C rs61757459 byFrequency TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:94964104G>C uc001ydj.2 - 3 1427 c.631C>G c.(631-633)CGA>GGA p.R211G NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 211 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) GCCTTACCTCGAAAGAAAATA 0.219 NaN 0 0 0 0.001855 0 14 41 RTL1 388015 broad.mit.edu 37 14 101349412 101349412 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:101349412C>G uc010txj.1 - 1 1773 c.1714G>C c.(1714-1716)GAT>CAT p.D572H uc001yig.3_RNA|MIR127_hsa-mir-127|MI0000472_RNA|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 572 pancreas(1) 1 GTCTCATCATCTGCTTCCTTC 0.572 NaN 0 0 0 0.00308 0 7 13 AHNAK2 113146 broad.mit.edu 37 14 105413526 105413526 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:105413526C>A uc010axc.1 - 7 8382 c.8262G>T c.(8260-8262)AAG>AAT p.K2754N AHNAK2_uc001ypx.2_Missense_Mutation_p.K2654N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2754 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) CGTTGGGGCCCTTAACATCTA 0.612 NaN 1 0 4.31119e-35 0.00361 4.63053e-35 100 172 ACTC1 70 broad.mit.edu 37 15 35083368 35083368 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:35083368C>G uc001ziu.1 - 6 1180 c.937G>C c.(937-939)GAT>CAT p.D313H uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 313 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TGCATACGATCAGCAATACCA 0.443 NaN 0 0 0 0.00361 0 77 152 RPUSD2 27079 broad.mit.edu 37 15 40864067 40864067 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:40864067G>A uc001zmd.1 + 2 871 c.871G>A c.(871-873)GAG>AAG p.E291K NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 291 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TGCAGTCTCTGAGAGAATTCA 0.552 NaN 0 0 0 0.003755 0 31 81 CTDSPL2 51496 broad.mit.edu 37 15 44778881 44778881 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:44778881C>T uc001ztr.2 + 4 874 c.458C>T c.(457-459)TCA>TTA p.S153L CTDSPL2_uc001zts.2_Missense_Mutation_p.S153L|CTDSPL2_uc001ztt.2_Missense_Mutation_p.S153L|CTDSPL2_uc010bdv.2_Missense_Mutation_p.S153L NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 153 phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) AACTTTTTTTCACCAGCAAAT 0.289 NaN 0 0 0 0.00333 0 22 80 BCL2L10 10017 broad.mit.edu 37 15 52402123 52402123 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:52402123C>A uc002abq.2 - 2 586 c.537G>T c.(535-537)TGG>TGT p.W179C NM_020396 NP_065129 Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 169 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding 0 all cancers(107;0.0148) GCTGTTTTCTCCAAAAAGCCA 0.438 NaN 1 0 1.63498e-16 0.00361 1.72416e-16 65 110 TCF12 6938 broad.mit.edu 37 15 57545488 57545488 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:57545488G>C uc002aec.2 + 15 1501 c.1217G>C c.(1216-1218)AGA>ACA p.R406T TCF12_uc010ugm.1_Missense_Mutation_p.R458T|TCF12_uc010ugn.1_Missense_Mutation_p.R426T|TCF12_uc002aea.2_Missense_Mutation_p.R430T|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.R430T|TCF12_uc002aed.2_Missense_Mutation_p.R406T|TCF12_uc002aee.2_Missense_Mutation_p.R236T|TCF12_uc010bft.2_Missense_Mutation_p.R260T|TCF12_uc010ugo.1_Missense_Mutation_p.R170T|TCF12_uc010ugp.1_Missense_Mutation_p.R64T|TCF12_uc010ugq.1_Missense_Mutation_p.R40T|TCF12_uc010ugr.1_Missense_Mutation_p.R19T NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 406 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CGTTTAGACAGACTGGATGAT 0.443 NaN T TEC extraskeletal myxoid chondrosarcoma 0 0 0 0.005443 0 23 66 CRAMP1L 57585 broad.mit.edu 37 16 1712505 1712505 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:1712505C>G uc010uvh.1 + 11 2428 c.2428C>G c.(2428-2430)CCA>GCA p.P810A CRAMP1L_uc002cmf.2_RNA NM_020825 NP_065876 Q96RY5 CRML_HUMAN Crm, cramped-like 810 nucleus DNA binding 0 GAGAAACCCTCCAAGACCCCT 0.547 NaN 0 0 0 0.00361 0 52 98 CREBBP 1387 broad.mit.edu 37 16 3819201 3819201 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:3819201C>T uc002cvv.2 - 15 3238 c.3034G>A c.(3034-3036)GAA>AAA p.E1012K CREBBP_uc002cvw.2_Missense_Mutation_p.E974K NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1012 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCTTTGGATTCACCAGGATCG 0.592 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.005524 0 36 57 SEC14L5 9717 broad.mit.edu 37 16 5040888 5040888 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:5040888G>A uc002cye.2 + 5 646 c.466G>A c.(466-468)GTC>ATC p.V156I NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 156 PRELI/MSF1. integral to membrane|intracellular transporter activity 0 CACCGCCAACGTCAAGAGGGT 0.403 NaN 0 0 0 0.009096 0 4 7 PLK1 5347 broad.mit.edu 37 16 23690256 23690256 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:23690256G>A uc002dlz.1 + 1 56 c.3G>A c.(1-3)ATG>ATA p.M1I NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) TCGGGAGCATGAGTGCTGCAG 0.682 NaN 0 0 0 0.004672 0 3 3 TNRC6A 27327 broad.mit.edu 37 16 24800967 24800967 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:24800967C>T uc002dmm.2 + 6 1118 c.1004C>T c.(1003-1005)TCT>TTT p.S335F TNRC6A_uc010bxs.2_Missense_Mutation_p.S82F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S82F|TNRC6A_uc002dmn.2_Missense_Mutation_p.S82F|TNRC6A_uc002dmo.2_Missense_Mutation_p.S82F NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 335 Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Ser-rich.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GAAAGCAAATCTGAAAGTAGC 0.438 NaN 0 0 0 0.004878 0 39 49 CCDC101 112869 broad.mit.edu 37 16 28601977 28601977 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:28601977G>C uc002dqf.2 + 8 777 c.592G>C c.(592-594)GAA>CAA p.E198Q uc010vct.1_Intron NM_138414 NP_612423 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 198 SGF29 C-terminal. establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(1) 1 CATCGATGAAGAAGGCAAAGA 0.577 NaN 0 0 0 0.00361 0 77 138 CDH11 1009 broad.mit.edu 37 16 65032529 65032529 + Silent SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:65032529A>G uc002eoi.2 - 4 893 c.459T>C c.(457-459)AAT>AAC p.N153N CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.N153N|CDH11_uc010vin.1_Silent_p.N27N|CDH11_uc010vio.1_Silent_p.N153N NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 153 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GAGGGTTGTCATTAATGTCCT 0.582 NaN T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 0 0 0 0.008361 0 29 55 CDH5 1003 broad.mit.edu 37 16 66432402 66432402 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:66432402G>A uc002eom.3 + 10 1685 c.1529G>A c.(1528-1530)CGA>CAA p.R510Q NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 510 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) ATAACACCACGAAACGTGAAG 0.443 NaN 0 0 0 0.004007 0 16 35 PARD6A 50855 broad.mit.edu 37 16 67696116 67696116 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:67696116G>A uc002ett.2 + 3 698 c.607G>A c.(607-609)GCT>ACT p.A203T ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.A202T|PARD6A_uc002etu.2_Missense_Mutation_p.A27T NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 203 PDZ.|Interaction with PARD3 and CDC42 (By similarity). cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TGGGGGTCTGGCTGAGAGTAC 0.597 NaN 0 0 0 0.005524 0 39 67 NFAT5 10725 broad.mit.edu 37 16 69693744 69693744 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:69693744C>G uc002exm.1 + 6 2465 c.1257C>G c.(1255-1257)ATC>ATG p.I419M NFAT5_uc002exh.1_Missense_Mutation_p.I213M|NFAT5_uc002exi.2_Missense_Mutation_p.I343M|NFAT5_uc002exj.1_Missense_Mutation_p.I343M|NFAT5_uc002exk.1_Missense_Mutation_p.I343M|NFAT5_uc002exl.1_Missense_Mutation_p.I437M|NFAT5_uc002exn.1_Missense_Mutation_p.I437M NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 419 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GAGTTAATATCATGAGGAAAG 0.398 NaN 0 0 0 0.003214 0 46 61 HYDIN 54768 broad.mit.edu 37 16 70934909 70934909 + Nonsense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:70934909C>A uc002ezr.2 - 53 9171 c.9043G>T c.(9043-9045)GAG>TAG p.E3015* NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3016 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGCCTCACCTCCAACCGAATA 0.418 NaN 1 0 1.414e-09 0.003755 1.4645e-09 24 181 C16orf7 9605 broad.mit.edu 37 16 89779125 89779125 + Splice_Site SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:89779125C>T uc002fom.1 - 5 557 c.432_splice c.e5-1 p.K144_splice C16orf7_uc002fol.1_Splice_Site_p.K74_splice|uc002fon.1_RNA NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) CGTCAGCTCTCTGGAAATGTG 0.607 NaN 0 0 0 0.004482 0 9 26 FANCA 2175 broad.mit.edu 37 16 89845229 89845229 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:89845229C>T uc002fou.1 - 20 1848 c.1806G>A c.(1804-1806)GCG>GCA p.A602A FANCA_uc010vpn.1_Silent_p.A602A NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 602 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ACTCTATAAACGCCACACGGG 0.478 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.00361 0 44 84 FANCA 2175 broad.mit.edu 37 16 89858462 89858462 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:89858462C>T uc002fou.1 - 13 1140 c.1098G>A c.(1096-1098)CTG>CTA p.L366L FANCA_uc010vpn.1_Silent_p.L366L NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 366 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CCTCTGCACTCAGCATCACAA 0.527 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.002299 0 21 73 VPS53 55275 broad.mit.edu 37 17 617947 617947 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:617947C>G uc002frn.2 - 1 150 c.3G>C c.(1-3)ATG>ATC p.M1I VPS53_uc010cjo.1_Missense_Mutation_p.M1I|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.M1I|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.M1I NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 1 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) CCTCCTCCATCATTCCGCCAC 0.706 NaN 0 0 0 0.004289 0 35 79 CLEC10A 10462 broad.mit.edu 37 17 6979314 6979314 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:6979314G>A uc002gek.2 - 6 813 c.510C>T c.(508-510)CTC>CTT p.L170L CLEC10A_uc002gej.2_Silent_p.L143L|CLEC10A_uc002gel.2_Silent_p.L143L|CLEC10A_uc010clv.1_Silent_p.L143L NM_182906 NP_878910 Q8IUN9 CLC10_HUMAN C-type lectin, superfamily member 14 isoform 1 170 Extracellular (Potential).|Potential. endocytosis|innate immune response integral to membrane|plasma membrane sugar binding 0 CATTGTTGTTGAGAGTAGCCA 0.547 NaN 0 0 0 0.00632 0 27 51 CLEC10A 10462 broad.mit.edu 37 17 6980295 6980295 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:6980295G>A uc002gek.2 - 4 499 c.196C>T c.(196-198)CAG>TAG p.Q66* CLEC10A_uc002gej.2_Nonsense_Mutation_p.Q66*|CLEC10A_uc002gel.2_Nonsense_Mutation_p.Q66*|CLEC10A_uc010clv.1_Nonsense_Mutation_p.Q66* NM_182906 NP_878910 Q8IUN9 CLC10_HUMAN C-type lectin, superfamily member 14 isoform 1 66 Extracellular (Potential). endocytosis|innate immune response integral to membrane|plasma membrane sugar binding 0 AGGTCCCTCTGAAATTTGGAA 0.393 NaN 0 0 0 0.002096 0 32 47 ALOX12B 242 broad.mit.edu 37 17 7984221 7984221 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:7984221G>A uc002gjy.1 - 4 769 c.508C>T c.(508-510)CGC>TGC p.R170C uc010cnq.1_RNA NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 170 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 TTGGGGTTGCGATGCCTCCGC 0.652 NaN Multiple Myeloma(8;0.094) 0 0 0 0.00361 0 59 95 DNAH9 1770 broad.mit.edu 37 17 11607583 11607583 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:11607583G>C uc002gne.2 + 25 5283 c.5215G>C c.(5215-5217)GAG>CAG p.E1739Q DNAH9_uc010coo.2_Missense_Mutation_p.E1033Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1739 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGCCAGGCTGGAGGAAGGCTA 0.512 NaN 0 0 0 0.006999 0 39 86 SMCR8 140775 broad.mit.edu 37 17 18221435 18221435 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:18221435C>A uc002gsy.3 + 1 2842 c.2332C>A c.(2332-2334)CAG>AAG p.Q778K NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 778 central_nervous_system(1) 1 TATGGATTTTCAGAAGTGGAA 0.522 NaN 1 0 1.38658e-30 0.00361 1.48379e-30 47 92 PSMD11 5717 broad.mit.edu 37 17 30807212 30807212 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:30807212C>T uc010cta.1 + 12 1163 c.1123C>T c.(1123-1125)CAT>TAT p.H375Y PSMD11_uc002hhm.2_Missense_Mutation_p.H375Y NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 375 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) CAAGAAATTTCATGGTAAGTA 0.408 NaN 0 0 0 0.00361 0 46 81 GAS2L2 246176 broad.mit.edu 37 17 34079687 34079687 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:34079687C>T uc002hjv.1 - 1 211 c.183G>A c.(181-183)ACG>ACA p.T61T NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 61 CH. cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCACCAGGCCCGTTTCCAGCA 0.627 NaN 0 0 0 0.00333 0 25 51 ACACA 31 broad.mit.edu 37 17 35614640 35614640 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:35614640C>T uc002hnm.2 - 14 1891 c.1700G>A c.(1699-1701)AGA>AAA p.R567K ACACA_uc002hnk.2_Missense_Mutation_p.R489K|ACACA_uc002hnl.2_Missense_Mutation_p.R509K|ACACA_uc002hnn.2_Missense_Mutation_p.R567K|ACACA_uc002hno.2_Missense_Mutation_p.R604K|ACACA_uc010cuz.2_Missense_Mutation_p.R567K NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 567 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGCCTCTTCTCTGTTTTCTCC 0.378 NaN 0 0 0 0.007413 0 17 44 HELZ 9931 broad.mit.edu 37 17 65104787 65104787 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:65104787G>A uc010wqk.1 - 30 4735 c.4548C>T c.(4546-4548)TTC>TTT p.F1516F HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.F1515F|HELZ_uc010der.2_Silent_p.F59F NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TCCACTGCTGGAACCGTGCCT 0.502 NaN 0 0 0 0.004878 0 37 61 KIAA0195 9772 broad.mit.edu 37 17 73491426 73491426 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:73491426C>T uc002jnz.3 + 21 3065 c.2790C>T c.(2788-2790)ATC>ATT p.I930I KIAA0195_uc010wsa.1_Silent_p.I940I|KIAA0195_uc010wsb.1_Silent_p.I570I|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 930 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGACCTCATCAGCTTCCAGC 0.597 NaN 0 0 0 0.007413 0 16 53 EVPL 2125 broad.mit.edu 37 17 74005847 74005847 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr17:74005847C>T uc002jqi.2 - 22 3667 c.3439G>A c.(3439-3441)GGG>AGG p.G1147R EVPL_uc010wss.1_Missense_Mutation_p.G1169R|EVPL_uc010wst.1_Missense_Mutation_p.G617R NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1147 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 TGGAGGAGCCCTGGGTCCTGC 0.632 NaN 0 0 0 0.004878 0 30 55 NDC80 10403 broad.mit.edu 37 18 2608705 2608705 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:2608705G>C uc002kli.2 + 15 1746 c.1564G>C c.(1564-1566)GAG>CAG p.E522Q NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 522 Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 ATAGGAAGCAGAGGAAGAGGA 0.388 NaN 0 0 0 0.005443 0 24 40 CEP192 55125 broad.mit.edu 37 18 13068356 13068356 + Splice_Site SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:13068356A>G uc010xac.1 + 24 4839 c.4759_splice c.e24-2 p.D1587_splice CEP192_uc010dlf.1_Splice_Site|CEP192_uc010xad.1_Splice_Site_p.D1112_splice|CEP192_uc002kru.2_Splice_Site|CEP192_uc002krv.2_Splice_Site_p.D9_splice|CEP192_uc002krw.2_5'Flank NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa ovary(4)|pancreas(1) 5 TTAATTTTATAGGATCCAGAA 0.294 NaN 0 0 0 0.006122 0 18 27 KIAA1012 22878 broad.mit.edu 37 18 29437531 29437531 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:29437531C>T uc002kxc.3 - 20 3524 c.3160G>A c.(3160-3162)GAA>AAA p.E1054K KIAA1012_uc002kxb.3_Missense_Mutation_p.E1000K|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 1054 ER to Golgi vesicle-mediated transport cis-Golgi network 0 TTGACACTTTCATAGTAAAAC 0.348 NaN 0 0 0 0.007413 0 18 37 SMAD2 4087 broad.mit.edu 37 18 45372078 45372078 + Missense_Mutation SNP T T G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:45372078T>G uc002lcy.2 - 9 1339 c.1091A>C c.(1090-1092)CAG>CCG p.Q364P SMAD2_uc002lcz.2_Missense_Mutation_p.Q364P|SMAD2_uc010xdc.1_Missense_Mutation_p.Q334P|SMAD2_uc010xdd.1_Missense_Mutation_p.Q334P NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 364 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 GCCATATCTCTGATTACAATT 0.418 NaN 0 0 0 0.007835 0 42 52 MYO5B 4645 broad.mit.edu 37 18 47379927 47379927 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:47379927C>T uc002leb.2 - 31 4401 c.4113G>A c.(4111-4113)GAG>GAA p.E1371E MYO5B_uc002lea.2_Silent_p.E486E NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1371 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) GTTTGTCCATCTCCTCCTTCA 0.617 NaN 0 0 0 0.002299 0 21 51 PIGN 23556 broad.mit.edu 37 18 59824982 59824982 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:59824982G>T uc002lii.3 - 5 729 c.281C>A c.(280-282)TCT>TAT p.S94Y PIGN_uc002lij.3_Missense_Mutation_p.S94Y NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 94 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) ACCTGGCCGAGATTCTGTTGG 0.378 NaN 1 0 0.000602214 0.000602 0.000606396 5 20 SERPINB4 6318 broad.mit.edu 37 18 61328322 61328322 + Missense_Mutation SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:61328322T>A uc002ljg.2 - 1 155 c.129A>T c.(127-129)TTA>TTT p.L43F SERPINB3_uc002lji.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqa.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqb.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqc.2_Missense_Mutation_p.L43F P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 43 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 CTTTGGCTCCTAAGAGGACCA 0.438 NaN 0 0 0 0.00361 0 40 100 ZNF236 7776 broad.mit.edu 37 18 74616410 74616411 + Missense_Mutation DNP AG AG GA TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:74616410_74616411AG>GA uc002lmi.2 + 12 2161_2162 c.1963_1964AG>GA c.(1963-1965)AGA>GAA p.R655E ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 655 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TGAAGCAGATAGACCATACAAG 0.347 NaN 0 0 0 0.004672 0 18 23 PTPRS 5802 broad.mit.edu 37 19 5222225 5222225 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:5222225G>A uc002mbv.2 - 19 3344 c.3110C>T c.(3109-3111)CCC>CTC p.P1037L PTPRS_uc002mbu.1_Missense_Mutation_p.P606L|PTPRS_uc010xin.1_Missense_Mutation_p.P606L|PTPRS_uc002mbw.2_Missense_Mutation_p.P1015L|PTPRS_uc002mbx.2_Missense_Mutation_p.P610L|PTPRS_uc002mby.2_Missense_Mutation_p.P606L NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1037 Extracellular (Potential).|Fibronectin type-III 8. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GAAGTTCTTGGGCGAGACTGC 0.607 NaN 0 0 0 0.004672 0 3 39 AP1M2 10053 broad.mit.edu 37 19 10689595 10689595 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:10689595G>C uc002mpc.2 - 8 945 c.861C>G c.(859-861)TCC>TCG p.S287S AP1M2_uc002mpd.2_Silent_p.S289S NM_005498 NP_005489 Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 287 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(2) 2 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CGCGGCTGTGGGAGAACTTCT 0.418 NaN 0 0 0 0.004672 0 3 18 SMARCA4 6597 broad.mit.edu 37 19 11168977 11168977 + Nonsense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:11168977C>T uc002mqf.3 + 31 4755 c.4471C>T c.(4471-4473)CGA>TGA p.R1491* SMARCA4_uc010dxp.2_Nonsense_Mutation_p.R1491*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.R1523*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.R1458*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.R1457*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.R1461*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.R1460*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.R581* NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1491 Bromo. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCTGCCCTCGCGAAAGGAGCT 0.637 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.001368 0 13 28 FKBP8 23770 broad.mit.edu 37 19 18650429 18650429 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:18650429C>G uc002njk.1 - 3 507 c.394G>C c.(394-396)GAG>CAG p.E132Q FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Missense_Mutation_p.E161Q|FKBP8_uc002njj.1_Missense_Mutation_p.E132Q|FKBP8_uc002njl.1_Missense_Mutation_p.E132Q|FKBP8_uc002njm.1_Missense_Mutation_p.E132Q|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 132 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 GTGCCATTCTCCAGCGACGTC 0.667 NaN 0 0 0 0.00361 0 71 83 FKBP8 23770 broad.mit.edu 37 19 18650529 18650529 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:18650529C>T uc002njk.1 - 3 407 c.294G>A c.(292-294)GGG>GGA p.G98G FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Silent_p.G127G|FKBP8_uc002njj.1_Silent_p.G98G|FKBP8_uc002njl.1_Silent_p.G98G|FKBP8_uc002njm.1_Silent_p.G98G|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 98 apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 ACAGCCCGTTCCCTGCCAGGG 0.662 NaN 0 0 0 0.00361 0 66 84 SFRS14 10147 broad.mit.edu 37 19 19136463 19136463 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:19136463G>A uc002nkx.2 - 3 840 c.694C>T c.(694-696)CAG>TAG p.Q232* SFRS14_uc002nkz.1_Nonsense_Mutation_p.Q246*|SFRS14_uc002nla.1_Nonsense_Mutation_p.Q232*|SFRS14_uc002nlb.2_Nonsense_Mutation_p.Q232*|SFRS14_uc010xqk.1_Intron NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 232 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) AGCAGGCCCTGAGTCTCCCCC 0.522 NaN 0 0 0 0.004878 0 36 37 ZNF682 91120 broad.mit.edu 37 19 20118011 20118011 + Silent SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:20118011C>A uc002noq.2 - 4 423 c.300G>T c.(298-300)CTG>CTT p.L100L ZNF682_uc002noo.2_Silent_p.L68L|ZNF682_uc002nop.2_Silent_p.L68L|ZNF682_uc010eck.2_Silent_p.L24L NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 CATATCTTCTCAGTATCACTT 0.358 NaN 1 0 7.48243e-07 0.006214 7.64051e-07 9 5 ANKRD27 84079 broad.mit.edu 37 19 33096819 33096819 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:33096819C>G uc002ntn.1 - 24 2571 c.2415G>C c.(2413-2415)AAG>AAC p.K805N NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 805 ANK 9. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) TGAGGTCCTTCTTATTGGGTT 0.512 NaN 0 0 0 0.00874 0 41 40 GPI 2821 broad.mit.edu 37 19 34868692 34868692 + Missense_Mutation SNP G G A rs148548669 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:34868692G>A uc002nvg.1 + 6 642 c.539G>A c.(538-540)CGC>CAC p.R180H GPI_uc002nvf.2_Missense_Mutation_p.R219H|GPI_uc010xrv.1_Missense_Mutation_p.R191H|GPI_uc010xrw.1_Missense_Mutation_p.R152H|GPI_uc010edl.1_Missense_Mutation_p.R180H NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 180 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) GGAGGTCCCCGCGTCTGGTAT 0.532 NaN 0 0 0 0.005524 0 34 53 LRFN1 57622 broad.mit.edu 37 19 39798949 39798949 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:39798949G>C uc002okw.2 - 2 1640 c.1640C>G c.(1639-1641)TCG>TGG p.S547W NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 547 Helical; (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GACGAGGACCGAGGCGACGAT 0.667 NaN 0 0 0 0.008291 0 11 34 LRFN1 57622 broad.mit.edu 37 19 39804928 39804928 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:39804928C>T uc002okw.2 - 1 1049 c.1049G>A c.(1048-1050)CGG>CAG p.R350Q NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 350 Ig-like.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCCGTCCCCCCGGACCCGGGT 0.692 NaN 0 0 0 0.001984 0 7 16 PSG1 5669 broad.mit.edu 37 19 43372352 43372352 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:43372352G>A uc002ovb.2 - 5 1282 c.1144C>T c.(1144-1146)CGC>TGC p.R382C PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.R382C|PSG1_uc010eio.1_Missense_Mutation_p.R382C|PSG1_uc002oux.1_Missense_Mutation_p.R311C|PSG1_uc002ouy.1_Missense_Mutation_p.R289C|PSG1_uc002ouz.1_Missense_Mutation_p.R382C|PSG1_uc002ova.1_Missense_Mutation_p.R289C|PSG1_uc002ovc.2_Missense_Mutation_p.R289C|PSG1_uc002ovd.1_Missense_Mutation_p.R382C NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 382 Ig-like C2-type 3. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) GTAATATGGCGGATAAAGAGC 0.463 NaN 0 0 0 0.00361 0 87 198 ZNF226 7769 broad.mit.edu 37 19 44680638 44680638 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:44680638C>G uc002oyp.2 + 6 1367 c.1223C>G c.(1222-1224)TCC>TGC p.S408C ZNF226_uc002oyq.2_Missense_Mutation_p.S291C|ZNF226_uc002oyr.2_Missense_Mutation_p.S291C|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.S408C|ZNF226_uc002oyt.2_Missense_Mutation_p.S408C NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 408 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) CATCTTCAATCCCATCAAAGA 0.443 NaN 0 0 0 0.00278 0 24 33 APOC1 341 broad.mit.edu 37 19 45418151 45418151 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:45418151G>A uc002pac.1 + 3 255 c.3G>A c.(1-3)ATG>ATA p.M1I APOC1_uc002pad.1_Missense_Mutation_p.M1I|APOC1_uc002pae.1_Missense_Mutation_p.M1I|APOC1_uc002paf.1_5'Flank NM_001645 NP_001636 P02654 APOC1_HUMAN apolipoprotein C-I precursor 1 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) GCCTCGCCATGAGGCTCTTCC 0.607 NaN 0 0 0 0.000978 0 10 29 GLTSCR1 29998 broad.mit.edu 37 19 48204667 48204667 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:48204667C>T uc002phh.3 + 15 3872 c.3678C>T c.(3676-3678)CCC>CCT p.P1226P GLTSCR1_uc002phi.3_Silent_p.P984P NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1226 protein binding pancreas(3) 3 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCCACGGCCCCCTGTCGTCTT 0.692 NaN 0 0 0 0.001168 0 6 11 LRRC4B 94030 broad.mit.edu 37 19 51021654 51021654 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:51021654G>A uc002pss.2 - 3 1453 c.1316C>T c.(1315-1317)ACG>ATG p.T439M NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 439 Extracellular (Potential).|Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGCTGAGTTCGTCACCATGCA 0.517 NaN 0 0 0 0.002445 0 29 48 KLK15 55554 broad.mit.edu 37 19 51329142 51329142 + Silent SNP G G A rs137922291 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:51329142G>A uc002ptl.2 - 5 712 c.681C>T c.(679-681)GAC>GAT p.D227D KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Silent_p.D142D|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Silent_p.D226D|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 227 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CACAAGGGACGTCACCCCAGG 0.557 NaN 0 0 0 0.00499 0 16 28 CNOT3 4849 broad.mit.edu 37 19 54647809 54647809 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:54647809G>T uc002qdj.1 + 6 637 c.326G>T c.(325-327)GGC>GTC p.G109V CNOT3_uc010yel.1_Missense_Mutation_p.G109V|CNOT3_uc002qdi.2_Missense_Mutation_p.G22V|CNOT3_uc002qdk.1_Missense_Mutation_p.G109V|CNOT3_uc010ere.1_RNA NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 109 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAGGGCCTGGGCCTGGCCCAG 0.547 NaN 1 0 2.37509e-13 0.010504 2.48656e-13 22 55 TNNT1 7138 broad.mit.edu 37 19 55649415 55649415 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:55649415C>T uc002qjb.3 - 10 504 c.415G>A c.(415-417)GAG>AAG p.E139K TNNT1_uc002qiz.3_Missense_Mutation_p.E69K|TNNT1_uc002qja.3_Missense_Mutation_p.E69K|TNNT1_uc002qjc.3_Missense_Mutation_p.E139K|TNNT1_uc002qje.3_Missense_Mutation_p.E128K|TNNT1_uc002qjd.3_Missense_Mutation_p.E128K|TNNT1_uc002qjf.2_Missense_Mutation_p.E135K NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 139 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) TTCTTGGCCTCTTCCTCTTCC 0.567 NaN 0 0 0 0.00361 0 43 79 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NaN 1 0 0.004672 0.004672 0.00468817 3 16 DDX1 1653 broad.mit.edu 37 2 15753407 15753407 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:15753407G>C uc002rce.2 + 14 1304 c.1016G>C c.(1015-1017)GGA>GCA p.G339A DDX1_uc010yjq.1_Missense_Mutation_p.G247A NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 339 Necessary for interaction with RELA.|Helicase ATP-binding. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TTGGAAAATGGAGTAAGTTGT 0.323 NaN 0 0 0 0.004482 0 8 28 ITSN2 50618 broad.mit.edu 37 2 24522785 24522785 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24522785C>G uc002rfe.2 - 12 1595 c.1337G>C c.(1336-1338)AGA>ACA p.R446T ITSN2_uc002rff.2_Missense_Mutation_p.R446T|ITSN2_uc002rfg.2_Missense_Mutation_p.R446T|ITSN2_uc010eyd.2_Missense_Mutation_p.R471T NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 446 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACCTCTCGTCTTTCTATGTC 0.289 NaN 0 0 0 0.003163 0 14 60 ITSN2 50618 broad.mit.edu 37 2 24522905 24522905 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24522905C>T uc002rfe.2 - 12 1475 c.1217G>A c.(1216-1218)CGA>CAA p.R406Q ITSN2_uc002rff.2_Missense_Mutation_p.R406Q|ITSN2_uc002rfg.2_Missense_Mutation_p.R406Q|ITSN2_uc010eyd.2_Missense_Mutation_p.R431Q NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 406 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCTGTTTTCGTTCCCACTC 0.453 NaN 0 0 0 0.002445 0 30 114 ITSN2 50618 broad.mit.edu 37 2 24522915 24522915 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24522915C>T uc002rfe.2 - 12 1465 c.1207G>A c.(1207-1209)GAG>AAG p.E403K ITSN2_uc002rff.2_Missense_Mutation_p.E403K|ITSN2_uc002rfg.2_Missense_Mutation_p.E403K|ITSN2_uc010eyd.2_Missense_Mutation_p.E428K NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 403 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTTCCCACTCTTCCTTTTCT 0.453 NaN 0 0 0 0.004878 0 32 118 ITSN2 50618 broad.mit.edu 37 2 24523032 24523032 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24523032C>G uc002rfe.2 - 12 1348 c.1090G>C c.(1090-1092)GAG>CAG p.E364Q ITSN2_uc002rff.2_Missense_Mutation_p.E364Q|ITSN2_uc002rfg.2_Missense_Mutation_p.E364Q|ITSN2_uc010eyd.2_Missense_Mutation_p.E389Q NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 364 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTTTGTCCTCAAAAGTAACT 0.448 NaN 0 0 0 0.00874 0 39 55 NCOA1 8648 broad.mit.edu 37 2 24930608 24930608 + Nonsense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:24930608G>T uc002rfk.2 + 11 2527 c.2269G>T c.(2269-2271)GAG>TAG p.E757* NCOA1_uc010eye.2_Nonsense_Mutation_p.E757*|NCOA1_uc002rfi.2_Nonsense_Mutation_p.E606*|NCOA1_uc002rfj.2_Nonsense_Mutation_p.E757*|NCOA1_uc002rfl.2_Nonsense_Mutation_p.E757* NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 757 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGATAAAGATGAGAAAGATTT 0.378 NaN T PAX3 alveolar rhadomyosarcoma 1 0 6.42651e-13 0.000978 6.70392e-13 12 25 GCKR 2646 broad.mit.edu 37 2 27746223 27746223 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:27746223G>C uc002rky.2 + 19 1861 c.1795G>C c.(1795-1797)GAG>CAG p.E599Q GCKR_uc010ezd.2_Missense_Mutation_p.E597Q|GCKR_uc010ylu.1_Missense_Mutation_p.E409Q NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 599 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) TTCTGTCTGTGAGGCTGTCAG 0.597 NaN 0 0 0 0.006214 0 10 37 GCKR 2646 broad.mit.edu 37 2 27746258 27746258 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:27746258G>C uc002rky.2 + 19 1896 c.1830G>C c.(1828-1830)CAG>CAC p.Q610H GCKR_uc010ezd.2_Missense_Mutation_p.Q608H|GCKR_uc010ylu.1_Missense_Mutation_p.Q420H NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 610 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) GGCCAGGTCAGAAGCGCACTG 0.612 NaN 0 0 0 0.001368 0 13 54 SUPT7L 9913 broad.mit.edu 37 2 27884012 27884012 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:27884012C>T uc002rlh.1 - 3 601 c.258G>A c.(256-258)CAG>CAA p.Q86Q SUPT7L_uc002rli.1_Silent_p.Q86Q|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Silent_p.Q84Q|SUPT7L_uc010ezh.1_Silent_p.Q84Q|SLC4A1AP_uc002rlk.3_5'Flank NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 86 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) GCTGCTGATTCTGGGCCTGAG 0.517 NaN 0 0 0 0.003163 0 16 47 CAPN13 92291 broad.mit.edu 37 2 30965216 30965216 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:30965216G>A uc002rnn.2 - 13 1631 c.1455C>T c.(1453-1455)AGC>AGT p.S485S CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_Silent_p.S39S NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 485 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGAAATGGCTGCTCAGGTGCC 0.532 NaN 0 0 0 0.000602 0 5 8 VPS54 51542 broad.mit.edu 37 2 64141357 64141357 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:64141357C>G uc002scq.2 - 17 2456 c.2293G>C c.(2293-2295)GTT>CTT p.V765L VPS54_uc002scp.2_Missense_Mutation_p.V753L|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Missense_Mutation_p.V250L|VPS54_uc010fct.2_Missense_Mutation_p.V612L NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 765 protein transport|retrograde transport, endosome to Golgi 0 TCAGTAGTAACAGATGGGATG 0.348 NaN 0 0 0 0.002836 0 31 48 REG1B 5968 broad.mit.edu 37 2 79312402 79312402 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:79312402C>G uc002sny.2 - 6 553 c.441G>C c.(439-441)AAG>AAC p.K147N NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 147 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 CCTTCCATTTCTTGAATCCTA 0.403 NaN 0 0 0 0.006214 0 9 18 MRPS5 64969 broad.mit.edu 37 2 95766234 95766234 + Nonsense_Mutation SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:95766234T>A uc002sub.2 - 10 1134 c.916A>T c.(916-918)AAG>TAG p.K306* MRPS5_uc002suc.2_RNA NM_031902 NP_114108 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 306 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome ovary(2)|central_nervous_system(1) 3 GGTTGTTTCTTCATCTTGATA 0.323 NaN 0 0 0 0.006122 0 17 39 LCT 3938 broad.mit.edu 37 2 136562346 136562346 + Silent SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:136562346G>T uc002tuu.1 - 10 4466 c.4455C>A c.(4453-4455)ATC>ATA p.I1485I NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1485 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CCTGGGGCTGGATGCTGGCGG 0.562 NaN 1 0 4.96729e-08 0.008871 5.09016e-08 18 41 NEB 4703 broad.mit.edu 37 2 152553231 152553231 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:152553231G>C uc010fnx.2 - 17 1680 c.1489C>G c.(1489-1491)CCA>GCA p.P497A NEB_uc010fny.1_Missense_Mutation_p.P51A NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 497 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GTCTTATCTGGATGGACTTTG 0.458 NaN 0 0 0 0.006214 0 10 26 KBTBD10 10324 broad.mit.edu 37 2 170371102 170371102 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:170371102G>A uc002ueu.1 + 2 1206 c.1129G>A c.(1129-1131)GAA>AAA p.E377K KBTBD10_uc010zdh.1_Missense_Mutation_p.E315K NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 377 Kelch 1. striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 CATAGCATCTGAATGGGTTGG 0.398 NaN 0 0 0 0.004656 0 24 33 NFE2L2 4780 broad.mit.edu 37 2 178098799 178098799 + Missense_Mutation SNP T T A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 T A T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:178098799T>A uc002ulh.3 - 2 801 c.246A>T c.(244-246)GAA>GAT p.E82D NFE2L2_uc002ulg.3_Missense_Mutation_p.E66D|NFE2L2_uc010zfa.1_Missense_Mutation_p.E66D|NFE2L2_uc002uli.3_Missense_Mutation_p.E66D|NFE2L2_uc010fra.2_Missense_Mutation_p.E66D|NFE2L2_uc010frb.2_Missense_Mutation_p.E66D NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 82 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTGGGAGAAATTCACCTGTCT 0.433 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.010504 0 20 33 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:178098810C>G uc002ulh.3 - 2 790 c.235G>C c.(235-237)GAG>CAG p.E79Q NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.004007 0 16 34 DUSP28 285193 broad.mit.edu 37 2 241500413 241500413 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:241500413G>C uc002vzg.2 + 1 943 c.312G>C c.(310-312)AAG>AAC p.K104N ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.K104N NM_001033575 NP_001028747 Q4G0W2 DUS28_HUMAN dual specificity phosphatase 28 104 Tyrosine-protein phosphatase. protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311) TCTACTGCAAGAACGGCCGCA 0.741 NaN 0 0 0 0.009096 0 4 12 KCNS1 3787 broad.mit.edu 37 20 43723922 43723922 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:43723922G>A uc002xnc.2 - 5 1567 c.1170C>T c.(1168-1170)TTC>TTT p.F390F KCNS1_uc002xnd.2_Silent_p.F390F NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 390 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) CCACACCAGAGAACACTGACA 0.567 NaN 0 0 0 0.00245 0 14 40 C20orf43 51507 broad.mit.edu 37 20 55088466 55088466 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:55088466G>A uc002xxt.2 + 6 680 c.573G>A c.(571-573)CTG>CTA p.L191L C20orf43_uc010zzf.1_Silent_p.L221L|C20orf43_uc002xxu.2_Silent_p.L191L|C20orf43_uc002xxv.2_Silent_p.L191L|GCNT7_uc010zzg.1_Intron NM_016407 NP_057491 Q9BY42 CT043_HUMAN hypothetical protein LOC51507 191 ovary(1) 1 Colorectal(105;0.202) AGAGAAGGCTGAGAGCGAAGC 0.562 NaN 0 0 0 0.004672 0 3 14 TFAP2C 7022 broad.mit.edu 37 20 55206428 55206428 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:55206428G>A uc002xya.2 + 2 459 c.216G>A c.(214-216)TCG>TCA p.S72S TFAP2C_uc010zzi.1_5'UTR NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 72 Gln/Pro-rich (transactivation domain). cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) ACTCCCAGTCGGCCGACCCCT 0.701 NaN 0 0 0 0.003163 0 15 34 NPEPL1 79716 broad.mit.edu 37 20 57268967 57268967 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:57268967C>G uc010zzs.1 + 2 420 c.325C>G c.(325-327)CGC>GGC p.R109G NPEPL1_uc010zzr.1_Missense_Mutation_p.R61G|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R81G|NPEPL1_uc002xzp.2_Translation_Start_Site NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 109 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity 0 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) CGGAGCGCATCGCTGCATTGT 0.701 NaN 0 0 0 0.00308 0 8 17 HRH3 11255 broad.mit.edu 37 20 60794805 60794805 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr20:60794805G>C uc002ycf.2 - 1 519 c.222C>G c.(220-222)CTC>CTG p.L74L HRH3_uc002ycg.2_Silent_p.L74L|HRH3_uc002ych.2_Silent_p.L74L|HRH3_uc002yci.2_Silent_p.L74L NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN histamine receptor H3 74 Helical; Name=2; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) TGGCGAGGTTGAGCAGGAAGA 0.682 NaN 0 0 0 0.001882 0 18 46 PRDM15 63977 broad.mit.edu 37 21 43298877 43298877 + Missense_Mutation SNP G G A rs75817094 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr21:43298877G>A uc002yzq.1 - 3 451 c.340C>T c.(340-342)CGG>TGG p.R114W PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGCTGTACCCGAGGGCGGGGG 0.493 NaN 0 0 0 0.001855 0 12 6 SLC25A18 83733 broad.mit.edu 37 22 18070755 18070755 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:18070755G>A uc002zmp.1 + 9 1134 c.640G>A c.(640-642)GAG>AAG p.E214K SLC25A18_uc010gqx.2_Missense_Mutation_p.E214K|SLC25A18_uc002zmq.1_Missense_Mutation_p.E214K NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN solute carrier 214 integral to membrane|mitochondrial inner membrane binding|symporter activity 0 Lung(27;0.124) L-Glutamic Acid(DB00142) GGGGTTCAACGAGCTCGCCGG 0.532 NaN 0 0 0 0.007835 0 42 69 CHEK2 11200 broad.mit.edu 37 22 29091193 29091193 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:29091193G>C uc003adu.1 - 12 1369 c.1297C>G c.(1297-1299)CAA>GAA p.Q433E CHEK2_uc003ads.1_Missense_Mutation_p.Q212E|CHEK2_uc010gvh.1_Missense_Mutation_p.Q342E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.Q476E|CHEK2_uc003adv.1_Missense_Mutation_p.Q404E|CHEK2_uc003adw.1_Missense_Mutation_p.Q433E|CHEK2_uc003adx.1_Missense_Mutation_p.Q212E|CHEK2_uc003ady.1_Missense_Mutation_p.Q422E|CHEK2_uc003adz.1_Missense_Mutation_p.Q237E NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 433 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 AGTGACACTTGAGTCCTATGC 0.413 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 0 0 0 0.000978 0 11 28 CHEK2 11200 broad.mit.edu 37 22 29091207 29091207 + Missense_Mutation SNP G G A rs137853011 byFrequency TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:29091207G>A uc003adu.1 - 12 1355 c.1283C>T c.(1282-1284)TCT>TTT p.S428F CHEK2_uc003ads.1_Missense_Mutation_p.S207F|CHEK2_uc010gvh.1_Missense_Mutation_p.S337F|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.S471F|CHEK2_uc003adv.1_Missense_Mutation_p.S399F|CHEK2_uc003adw.1_Missense_Mutation_p.S428F|CHEK2_uc003adx.1_Missense_Mutation_p.S207F|CHEK2_uc003ady.1_Intron|CHEK2_uc003adz.1_Missense_Mutation_p.S232F NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 428 Protein kinase. S -> F (increases breast cancer risk approximately 2-fold among Ashkenazi Jewish women). cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCTATGCTCAGAGAAAGGTGG 0.398 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 0 0 0 0.000978 0 11 29 EP300 2033 broad.mit.edu 37 22 41556722 41556722 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:41556722C>G uc003azl.3 + 20 4062 c.3667C>G c.(3667-3669)CAA>GAA p.Q1223E NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1223 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TTCCCAGCCTCAAACGTAAGT 0.388 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.005443 0 26 41 BRD1 23774 broad.mit.edu 37 22 50216812 50216812 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:50216812C>T uc003biv.2 - 1 1641 c.1154G>A c.(1153-1155)TGT>TAT p.C385Y BRD1_uc011arf.1_Translation_Start_Site|BRD1_uc011arg.1_Missense_Mutation_p.C385Y|BRD1_uc011arh.1_Missense_Mutation_p.C385Y|BRD1_uc003biu.3_Missense_Mutation_p.C385Y NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 385 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GTGGACATCACAGTAAGCGGT 0.542 NaN 0 0 0 0.00361 0 66 112 TTLL8 164714 broad.mit.edu 37 22 50470355 50470355 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:50470355G>A uc011ark.1 - 11 1467 c.1467C>T c.(1465-1467)CAC>CAT p.H489H NM_001080447 NP_001073916 tubulin tyrosine ligase-like family, member 8 ovary(2) 2 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CCTTCATGGCGTGGGCGATGG 0.642 NaN 0 0 0 0.00278 0 25 36 PLXNB2 23654 broad.mit.edu 37 22 50717351 50717351 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr22:50717351C>T uc003bkv.3 - 28 4585 c.4479G>A c.(4477-4479)AAG>AAA p.K1493K PLXNB2_uc003bkt.1_Silent_p.K285K|PLXNB2_uc003bku.1_Silent_p.K478K NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1493 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTCAATGATCTTCTCCTTGA 0.642 NaN 0 0 0 0.001368 0 11 31 MLH1 4292 broad.mit.edu 37 3 37056007 37056007 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:37056007G>C uc003cgl.2 + 9 822 c.762G>C c.(760-762)AAG>AAC p.K254N MLH1_uc011aye.1_Missense_Mutation_p.K13N|MLH1_uc011ayb.1_Missense_Mutation_p.K13N|MLH1_uc010hge.2_Missense_Mutation_p.K254N|MLH1_uc003cgn.3_Missense_Mutation_p.K13N|MLH1_uc011ayc.1_Missense_Mutation_p.K156N|MLH1_uc011ayd.1_Missense_Mutation_p.K13N|MLH1_uc003cgo.2_Missense_Mutation_p.K13N|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'UTR NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 254 Missing (in HNPCC2). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 ACTCAGTGAAGAAGTGCATCT 0.383 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 0 0 0 0.006122 0 17 21 COL7A1 1294 broad.mit.edu 37 3 48622525 48622525 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:48622525G>C uc003ctz.2 - 32 3920 c.3919C>G c.(3919-3921)CCA>GCA p.P1307A NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1307 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGCTGCCTGGACGCCCATCT 0.682 NaN 0 0 0 0.006122 0 16 41 COL7A1 1294 broad.mit.edu 37 3 48622544 48622544 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:48622544G>A uc003ctz.2 - 32 3901 c.3900C>T c.(3898-3900)TTC>TTT p.F1300F NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1300 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGCTCCAGGGAAGCCCTGAG 0.667 NaN 0 0 0 0.000978 0 12 37 PPM1M 132160 broad.mit.edu 37 3 52282393 52282393 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:52282393C>G uc003ddf.3 + 6 720 c.355C>G c.(355-357)CTG>GTG p.L119V PPM1M_uc011bed.1_Missense_Mutation_p.L280V|PPM1M_uc010hmd.2_Missense_Mutation_p.L119V|PPM1M_uc003ddg.3_Missense_Mutation_p.L68V|PPM1M_uc003ddh.3_5'Flank Q96MI6 PPM1M_HUMAN RecName: Full=Protein phosphatase 1M; EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta; Short=PP2C-eta; Short=PP2CE; 119 PP2C-like. protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding 0 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) GTTCACCCGACTGGAGTTCCC 0.592 NaN 0 0 0 0.004482 0 9 23 C3orf63 23272 broad.mit.edu 37 3 56680888 56680888 + Missense_Mutation SNP T T C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:56680888T>C uc003did.3 - 14 1978 c.1877A>G c.(1876-1878)AAT>AGT p.N626S C3orf63_uc003dic.3_Missense_Mutation_p.N230S|C3orf63_uc003die.3_Missense_Mutation_p.N626S NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 626 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) AAGTTTTCTATTTTCTTCAAA 0.299 NaN 0 0 0 0.004482 0 9 25 PDE12 201626 broad.mit.edu 37 3 57543222 57543222 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:57543222G>A uc003diw.3 + 1 1242 c.1116G>A c.(1114-1116)GGG>GGA p.G372G PDE12_uc003div.2_Silent_p.G372G NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 372 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) GGCTCGAGGGGGTGTTTCGAA 0.547 NaN 0 0 0 0.008291 0 11 42 FAM116A 201627 broad.mit.edu 37 3 57619051 57619051 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:57619051G>C uc003dja.2 - 15 1365 c.1294C>G c.(1294-1296)CAA>GAA p.Q432E NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 432 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) ATAACACTTTGAGCCTCAGAA 0.303 NaN 0 0 0 0.003163 0 14 33 PSMD6 9861 broad.mit.edu 37 3 64009039 64009039 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:64009039G>C uc003dma.1 - 1 82 c.57C>G c.(55-57)ATC>ATG p.I19M PSMD6_uc003dlz.1_Translation_Start_Site|PSMD6_uc003dmb.1_Missense_Mutation_p.I19M|PSMD6_uc003dmc.1_Intron|PSMD6_uc003dmd.1_Intron NM_014814 NP_055629 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, 19 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex ATPase activity|protein binding central_nervous_system(1)|skin(1) 2 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) GCAGCTGCGCGATACGCAAGT 0.672 NaN 0 0 0 0.001368 0 12 17 IQCB1 9657 broad.mit.edu 37 3 121491473 121491473 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:121491473C>G uc010hre.1 - 14 1713 c.1498G>C c.(1498-1500)GAA>CAA p.E500Q IQCB1_uc003eek.2_Missense_Mutation_p.E367Q|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 500 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) GCTCGCTCTTCTAGGGCCCTG 0.498 NaN 0 0 0 0.009718 0 41 84 DIRC2 84925 broad.mit.edu 37 3 122598123 122598123 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:122598123C>T uc003efw.3 + 9 1474 c.1335C>T c.(1333-1335)TTC>TTT p.F445F DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Silent_p.F283F|uc003efx.1_RNA NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 445 Helical; (Potential). transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) TGTCTTGGTTCAACTGGTGCC 0.463 NaN 0 0 0 0.00361 0 103 189 IFT122 55764 broad.mit.edu 37 3 129185821 129185821 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:129185821C>G uc003emm.2 + 8 858 c.652C>G c.(652-654)CTG>GTG p.L218V IFT122_uc003eml.2_Missense_Mutation_p.L269V|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Missense_Mutation_p.L68V|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 218 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 CCCTTCCACTCTGAAGTCAGC 0.498 NaN 0 0 0 0.002836 0 33 64 DNAJC13 23317 broad.mit.edu 37 3 132182552 132182552 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:132182552G>C uc003eor.2 + 17 1848 c.1783G>C c.(1783-1785)GAA>CAA p.E595Q DNAJC13_uc010htq.1_Missense_Mutation_p.E595Q NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 595 heat shock protein binding ovary(1)|breast(1) 2 AGGTGATAAAGAAATTGCTAC 0.383 NaN 0 0 0 0.004656 0 24 42 XRN1 54464 broad.mit.edu 37 3 142144273 142144273 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:142144273C>T uc003eus.2 - 4 581 c.514G>A c.(514-516)GAG>AAG p.E172K XRN1_uc003eut.2_Missense_Mutation_p.E172K|XRN1_uc003euu.2_Missense_Mutation_p.E172K|XRN1_uc003euv.1_Missense_Mutation_p.E33K|XRN1_uc003euw.2_Missense_Mutation_p.E172K|XRN1_uc011bnh.1_Intron NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 172 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 ATAATAACCTCATGGCCTGAG 0.279 NaN 0 0 0 0.00499 0 17 6 KLHL24 54800 broad.mit.edu 37 3 183368537 183368537 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:183368537C>T uc003flv.2 + 3 688 c.393C>T c.(391-393)ATC>ATT p.I131I KLHL24_uc003flw.2_Silent_p.I131I|KLHL24_uc003flx.2_Silent_p.I131I NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 131 BTB. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AGGTGAAGATCACTACAGAGA 0.408 NaN 0 0 0 0.001984 0 6 137 C3orf43 255798 broad.mit.edu 37 3 196236536 196236536 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr3:196236536C>G uc003fws.2 - 2 212 c.55G>C c.(55-57)GAC>CAC p.D19H C3orf43_uc003fwr.2_Missense_Mutation_p.D11H NM_001077657 NP_001071125 Q147U7 CC043_HUMAN hypothetical protein LOC255798 19 Potential. integral to membrane ovary(1) 1 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) AGTTTGTGGTCTACTCTGTAG 0.373 NaN 0 0 0 0.00361 0 46 86 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b 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 0.001368 0 11 19 EVC 2121 broad.mit.edu 37 4 5754566 5754566 + Missense_Mutation SNP G G A rs145645536 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:5754566G>A uc003gil.1 + 9 1286 c.1102G>A c.(1102-1104)GCC>ACC p.A368T EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 368 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) TTTGCAGGACGCCCTGGAGAG 0.557 NaN 0 0 0 0.006999 0 39 64 ADAMTS3 9508 broad.mit.edu 37 4 73185578 73185578 + Missense_Mutation SNP T T C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:73185578T>C uc003hgk.1 - 8 1242 c.1205A>G c.(1204-1206)CAT>CGT p.H402R NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 402 Peptidase M12B. Zinc; catalytic (By similarity). collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GACTTACACATGGCCCGTTTC 0.448 NaN 0 0 0 0.006122 0 18 26 AFF1 4299 broad.mit.edu 37 4 88053553 88053553 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:88053553A>G uc003hqj.3 + 18 3690 c.3283A>G c.(3283-3285)ATT>GTT p.I1095V AFF1_uc011ccz.1_Missense_Mutation_p.I1102V|AFF1_uc003hqk.3_Missense_Mutation_p.I1095V|AFF1_uc011cda.1_Missense_Mutation_p.I733V NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1095 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TTCTCCATGCATTGCAAGGTA 0.343 NaN 0 0 0 0.006122 0 17 25 DDIT4L 115265 broad.mit.edu 37 4 101109268 101109268 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:101109268C>T uc003hvq.2 - 3 351 c.148G>A c.(148-150)GAG>AAG p.E50K NM_145244 NP_660287 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 50 negative regulation of signal transduction cytoplasm ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) GTTGATTCCTCAAATATTACC 0.368 NaN 0 0 0 0.009718 0 45 72 PCDH10 57575 broad.mit.edu 37 4 134072260 134072260 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:134072260C>G uc003iha.2 + 1 1791 c.965C>G c.(964-966)CCA>CGA p.P322R uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P322R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 322 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GAAGAGAGCCCAGTGTACCAA 0.612 NaN 0 0 0 0.002852 0 41 78 TLR2 7097 broad.mit.edu 37 4 154625251 154625251 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr4:154625251C>G uc003inq.2 + 3 1411 c.1192C>G c.(1192-1194)CAT>GAT p.H398D TLR2_uc003inr.2_Missense_Mutation_p.H398D|TLR2_uc003ins.2_Missense_Mutation_p.H398D NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 398 LRR 9.|Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) AAGGCAAAATCATTTGGCATC 0.363 NaN 0 0 0 0.007413 0 19 47 MARCH6 10299 broad.mit.edu 37 5 10402684 10402684 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:10402684C>G uc003jet.1 + 14 1345 c.1162C>G c.(1162-1164)CTC>GTC p.L388V MARCH6_uc011cmu.1_Missense_Mutation_p.L340V|MARCH6_uc003jeu.1_Missense_Mutation_p.L86V|MARCH6_uc011cmv.1_Missense_Mutation_p.L283V NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 388 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 AGTATTCCCTCTCATTTGTGG 0.358 NaN 0 0 0 0.00361 0 86 183 FAM151B 167555 broad.mit.edu 37 5 79797732 79797732 + Silent SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:79797732G>C uc003kgv.1 + 2 290 c.147G>C c.(145-147)CTG>CTC p.L49L FAM151B_uc010jal.1_RNA NM_205548 NP_991111 Q6UXP7 F151B_HUMAN hypothetical protein LOC167555 49 0 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) ATGAGGCACTGAAAAGTAAGT 0.368 NaN 0 0 0 0.007835 0 39 33 EFNA5 1946 broad.mit.edu 37 5 106722987 106722987 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:106722987C>A uc003kol.2 - 4 796 c.514G>T c.(514-516)GAT>TAT p.D172Y NM_001962 NP_001953 P52803 EFNA5_HUMAN ephrin-A5 precursor 172 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding 0 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) AAAACACGATCATGAACACCT 0.318 NaN 1 0 0.00010058 0.001368 0.000101631 8 7 MAN2A1 4124 broad.mit.edu 37 5 109051929 109051929 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:109051929C>G uc003kou.1 + 3 1462 c.499C>G c.(499-501)CAA>GAA p.Q167E NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 167 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TGAACCCCTTCAAGTCTTTGT 0.378 NaN 0 0 0 0.00278 0 24 26 LARS 51520 broad.mit.edu 37 5 145557190 145557190 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:145557190C>G uc003lnx.1 - 2 283 c.45G>C c.(43-45)AAG>AAC p.K15N LARS_uc011dbq.1_Missense_Mutation_p.K15N|LARS_uc011dbr.1_Intron|LARS_uc011dbs.1_Missense_Mutation_p.K15N NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 15 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CTTTCTCAATCTTCTTCAAAA 0.363 NaN 0 0 0 0.010504 0 20 16 ZNF454 285676 broad.mit.edu 37 5 178392337 178392337 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr5:178392337G>T uc003mjo.1 + 5 1203 c.932G>T c.(931-933)TGC>TTC p.C311F ZNF454_uc010jkz.1_Missense_Mutation_p.C311F NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 311 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GCCTTTGTGTGCAGGGCACAC 0.378 NaN 1 0 7.33628e-21 0.002299 7.79312e-21 21 22 HIST1H2AK 8330 broad.mit.edu 37 6 27805964 27805964 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:27805964G>A uc003njs.2 - 1 154 c.154C>T c.(154-156)CTG>TTG p.L52L HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank NM_003510 NP_003501 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 52 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding upper_aerodigestive_tract(1) 1 ACCGCCGCCAGGTACACCGGC 0.652 NaN 0 0 0 0.009096 0 4 63 CFB 629 broad.mit.edu 37 6 31895930 31895930 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:31895930C>T uc011dor.1 + 2 509 c.245C>T c.(244-246)GCG>GTG p.A82V C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.A82V|C2_uc003nyf.2_Missense_Mutation_p.A82V|C2_uc010jtk.2_Intron|C2_uc011doq.1_Missense_Mutation_p.R44W|C2_uc003nyg.2_Intron NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 156 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 CTGTCTAAGGCGGTCTGCAAA 0.473 NaN 0 0 0 0.004672 0 3 13 UHRF1BP1 54887 broad.mit.edu 37 6 34824635 34824635 + Nonsense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:34824635C>T uc003oju.3 + 11 1594 c.1360C>T c.(1360-1362)CAG>TAG p.Q454* UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 454 ovary(3) 3 GCCTGCCTTTCAGCCTCCAGC 0.502 NaN 0 0 0 0.00278 0 22 47 DAAM2 23500 broad.mit.edu 37 6 39828707 39828707 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:39828707G>A uc003oow.2 + 3 328 c.172G>A c.(172-174)GAA>AAA p.E58K DAAM2_uc010jxc.2_Missense_Mutation_p.E58K|DAAM2_uc003oox.2_Missense_Mutation_p.E58K|DAAM2_uc003oov.3_Missense_Mutation_p.E58K|DAAM2_uc003ooy.3_Missense_Mutation_p.E58K NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 58 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) TTTGCAGGATGAATTGGATCT 0.448 NaN 0 0 0 0.004482 0 9 15 DST 667 broad.mit.edu 37 6 56492874 56492874 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:56492874C>T uc003pdf.2 - 32 4490 c.4462G>A c.(4462-4464)GAA>AAA p.E1488K DST_uc003pcz.3_Missense_Mutation_p.E1310K|DST_uc011dxj.1_Missense_Mutation_p.E1339K|DST_uc011dxk.1_Missense_Mutation_p.E1350K|DST_uc003pcy.3_Missense_Mutation_p.E984K|DST_uc003pdb.2_Missense_Mutation_p.E984K|DST_uc003pdc.3_Missense_Mutation_p.E984K|DST_uc003pdd.3_Missense_Mutation_p.E984K NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1310 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGAGTAGTTTCAACCTGCTGG 0.388 NaN 0 0 0 0.00278 0 21 48 KCNQ5 56479 broad.mit.edu 37 6 73751677 73751677 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:73751677G>A uc003pgk.2 + 3 855 c.508G>A c.(508-510)GTC>ATC p.V170I KCNQ5_uc003pgj.3_Missense_Mutation_p.V170I|KCNQ5_uc011dyh.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyi.1_Missense_Mutation_p.V170I|KCNQ5_uc010kat.2_Missense_Mutation_p.V170I|KCNQ5_uc011dyj.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyk.1_Intron NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 170 Helical; Name=Segment S2; (Potential). protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GATGATTGTCGTCTTTGGTTT 0.423 NaN 0 0 0 0.00361 0 71 141 MDN1 23195 broad.mit.edu 37 6 90402857 90402857 + Nonsense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:90402857G>A uc003pnn.1 - 63 10008 c.9892C>T c.(9892-9894)CAA>TAA p.Q3298* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3298 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCATCCTTTGGCGAAGCAGC 0.473 NaN 0 0 0 0.00308 0 8 26 C6orf167 253714 broad.mit.edu 37 6 97626386 97626386 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:97626386G>A uc003ppb.2 - 18 2878 c.2612C>T c.(2611-2613)TCA>TTA p.S871L C6orf167_uc011eaf.1_Missense_Mutation_p.S831L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 871 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) TTGGGCCTTTGAGAAAATACT 0.299 NaN 0 0 0 0.003163 0 14 46 COQ3 51805 broad.mit.edu 37 6 99823896 99823896 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:99823896C>G uc003ppk.2 - 5 676 c.649G>C c.(649-651)GAT>CAT p.D217H NM_017421 NP_059117 Q9NZJ6 COQ3_HUMAN hexaprenyldihydroxybenzoate methyltransferase 217 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity p.D217H(1) upper_aerodigestive_tract(1) 1 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) ACAACAGCATCAAATGTTTCT 0.388 NaN 0 0 0 0.00623 0 40 116 SIM1 6492 broad.mit.edu 37 6 100896129 100896129 + Splice_Site SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:100896129C>G uc003pqj.3 - 7 951 c.744_splice c.e7-1 p.R248_splice SIM1_uc010kcu.2_Splice_Site_p.R248_splice NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTCCGCCACCCTGAGGAGAGC 0.637 NaN 0 0 0 0.009096 0 4 25 LAMA4 3910 broad.mit.edu 37 6 112476059 112476059 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:112476059C>G uc003pvu.2 - 16 2359 c.2050G>C c.(2050-2052)GAG>CAG p.E684Q LAMA4_uc003pvv.2_Missense_Mutation_p.E677Q|LAMA4_uc003pvt.2_Missense_Mutation_p.E677Q NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 684 Domain II and I.|Potential. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTACTAGACTCTGCCTTTGCT 0.393 NaN 0 0 0 0.005443 0 25 58 VNN2 8875 broad.mit.edu 37 6 133073771 133073771 + Missense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:133073771G>T uc003qdt.2 - 4 666 c.655C>A c.(655-657)CCT>ACT p.P219T VNN2_uc003qds.2_Intron|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.P166T NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 219 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTAACACCAGGATCATAGAAG 0.438 NaN 1 0 9.84934e-19 0.002522 1.04245e-18 45 109 THBS2 7058 broad.mit.edu 37 6 169623541 169623541 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:169623541C>T uc003qwt.2 - 19 3051 c.2803G>A c.(2803-2805)GAT>AAT p.D935N NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 935 TSP type-3 8. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTGTCAAAATCATCTTTACAA 0.393 NaN 0 0 0 0.007291 0 28 54 SUN1 23353 broad.mit.edu 37 7 883137 883137 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:883137C>G uc011jvp.1 + 6 717 c.638C>G c.(637-639)TCT>TGT p.S213C SUN1_uc010ksa.1_Missense_Mutation_p.S234C|SUN1_uc003sje.1_Missense_Mutation_p.S213C|SUN1_uc003sjf.2_Missense_Mutation_p.S163C|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.S24C NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 213 SYNE2-binding.|Nuclear. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 AGAGTTTATTCTAGGGACAGG 0.502 NaN 0 0 0 0.00361 0 79 186 KIAA0415 9907 broad.mit.edu 37 7 4830402 4830402 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:4830402C>T uc003sne.2 + 16 2120 c.2037C>T c.(2035-2037)TTC>TTT p.F679F KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.F156F NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 679 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) CTCTGCTATTCGAGGTCACCC 0.647 NaN 0 0 0 0.00308 0 8 11 C7orf28A 51622 broad.mit.edu 37 7 5942310 5942310 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:5942310C>G uc003spf.2 + 6 547 c.457C>G c.(457-459)CTG>GTG p.L153V NM_015622 NP_056437 P86791 CCZ1_HUMAN hypothetical protein LOC51622 153 LKAMEDGGVK -> PESHGRRRVQ (in Ref. 1; AAD34038). lysosomal membrane 0 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15) TGGTACATTTCTGAAAGCCAT 0.323 NaN 0 0 0 0.005443 0 19 33 ABCA13 154664 broad.mit.edu 37 7 48312697 48312697 + Missense_Mutation SNP A A G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:48312697A>G uc003toq.2 + 17 3459 c.3434A>G c.(3433-3435)CAC>CGC p.H1145R ABCA13_uc010kyr.2_Missense_Mutation_p.H648R NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1145 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATGTCCATTCACTGTACCGTT 0.353 NaN 0 0 0 0.006122 0 15 43 ASL 435 broad.mit.edu 37 7 65548157 65548157 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:65548157G>C uc003tuo.2 + 6 553 c.442G>C c.(442-444)GAG>CAG p.E148Q ASL_uc011kdu.1_Missense_Mutation_p.E148Q|ASL_uc010kzx.1_3'UTR|ASL_uc011kdv.1_Missense_Mutation_p.E148Q|ASL_uc003tup.2_Missense_Mutation_p.E148Q|ASL_uc003tur.2_Missense_Mutation_p.E148Q|ASL_uc003tuq.2_Missense_Mutation_p.E148Q NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 148 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) GGATCGGGCAGAGGCGTGAGT 0.637 NaN 0 0 0 0.004007 0 16 22 CYP3A4 1576 broad.mit.edu 37 7 99367796 99367796 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:99367796C>T uc003urv.1 - 5 485 c.381G>A c.(379-381)AAG>AAA p.K127K CYP3A4_uc003urw.1_Silent_p.K127K|CYP3A4_uc011kiz.1_Intron|CYP3A4_uc011kja.1_Silent_p.K78K|CYP3A4_uc011kjb.1_Intron NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 127 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) ATCGTAATCTCTTCCATTCTT 0.378 NaN 0 0 0 0.003271 0 34 58 UBN2 254048 broad.mit.edu 37 7 138968238 138968238 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:138968238C>G uc011kqr.1 + 15 2587 c.2587C>G c.(2587-2589)CAG>GAG p.Q863E NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 863 ovary(1)|skin(1) 2 TTCTTCCATTCAGAACCCTAA 0.463 NaN 0 0 0 0.006999 0 42 66 ZNF777 27153 broad.mit.edu 37 7 149152725 149152725 + Missense_Mutation SNP T T G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:149152725T>G uc003wfv.2 - 2 552 c.389A>C c.(388-390)CAC>CCC p.H130P NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TTCAGGGGAGTGAACGGGGGC 0.612 NaN 0 0 0 0.00361 0 98 192 NOS3 4846 broad.mit.edu 37 7 150699002 150699002 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:150699002G>C uc003wif.2 + 13 1892 c.1596G>C c.(1594-1596)CAG>CAC p.Q532H NOS3_uc011kuy.1_Missense_Mutation_p.Q326H|NOS3_uc011kuz.1_Missense_Mutation_p.Q532H|NOS3_uc011kva.1_Missense_Mutation_p.Q532H|NOS3_uc011kvb.1_Missense_Mutation_p.Q532H NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 532 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCCGGGCCCAGAGCTACGCAC 0.647 NaN 0 0 0 0.006122 0 19 39 LGI3 203190 broad.mit.edu 37 8 22005745 22005745 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:22005745C>A uc003xav.2 - 8 1864 c.1575G>T c.(1573-1575)CAG>CAT p.Q525H LGI3_uc010ltu.2_Missense_Mutation_p.Q501H NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 525 EAR 7. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CCAGGAGTAGCTGGGCGTCCC 0.607 NaN 1 0 7.11191e-15 0.002836 7.47266e-15 34 39 GSR 2936 broad.mit.edu 37 8 30557646 30557646 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:30557646C>T uc003xih.1 - 6 738 c.647G>A c.(646-648)AGC>AAC p.S216N NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 216 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) TATTCCTAAGCTGGCACCTAT 0.428 NaN 0 0 0 0.00333 0 24 25 ADAM32 203102 broad.mit.edu 37 8 39044508 39044508 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:39044508C>T uc003xmt.3 + 11 1241 c.996C>T c.(994-996)GAC>GAT p.D332D ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 332 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TATCATATGACGACCCAAAGA 0.348 NaN 0 0 0 0.00361 0 103 32 RDH10 157506 broad.mit.edu 37 8 74235043 74235043 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:74235043G>C uc003xzi.2 + 5 1160 c.900G>C c.(898-900)AAG>AAC p.K300N RDH10_uc003xzj.2_Missense_Mutation_p.K135N|uc003xzk.1_Intron NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 300 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity 0 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) CCTTCATGAAGAGGTAACTGG 0.512 NaN 0 0 0 0.002836 0 31 51 ZFAND1 79752 broad.mit.edu 37 8 82626198 82626198 + Silent SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:82626198C>T uc003ycj.1 - 6 449 c.435G>A c.(433-435)TTG>TTA p.L145L ZFAND1_uc010lzx.1_Silent_p.L145L|ZFAND1_uc003yck.1_Silent_p.L38L NM_024699 NP_078975 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 145 zinc ion binding ovary(1) 1 TTAATTTCATCAATGCAACCT 0.313 NaN 0 0 0 0.007413 0 19 27 RAD54B 25788 broad.mit.edu 37 8 95392433 95392433 + Silent SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:95392433G>T uc003ygk.2 - 12 2285 c.2187C>A c.(2185-2187)CTC>CTA p.L729L RAD54B_uc010may.1_Silent_p.L536L NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) ATCCTCCAATGAGGTTAAGTC 0.318 NaN Direct_reversal_of_damage|Homologous_recombination 1 0 1.49906e-05 0.00245 1.52536e-05 14 19 RAD54B 25788 broad.mit.edu 37 8 95392461 95392461 + Nonsense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:95392461G>C uc003ygk.2 - 12 2257 c.2159C>G c.(2158-2160)TCA>TGA p.S720* RAD54B_uc010may.1_Nonsense_Mutation_p.S527* NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) ACCAGCTTTTGAACTTAACAA 0.368 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.008291 0 11 24 UBR5 51366 broad.mit.edu 37 8 103357737 103357737 + Missense_Mutation SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:103357737G>A uc003ykr.1 - 8 806 c.773C>T c.(772-774)TCT>TTT p.S258F UBR5_uc003yks.1_Missense_Mutation_p.S258F 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 0.006122 0 17 31 CSMD3 114788 broad.mit.edu 37 8 113529420 113529420 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:113529420G>A uc003ynu.2 - 28 4758 c.4599C>T c.(4597-4599)GTC>GTT p.V1533V CSMD3_uc003yns.2_Silent_p.V805V|CSMD3_uc003ynt.2_Silent_p.V1493V|CSMD3_uc011lhx.1_Silent_p.V1429V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1533 Extracellular (Potential).|Sushi 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CATTCATGGGGACCCCTGGGT 0.423 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.007413 0 17 30 HAS2 3037 broad.mit.edu 37 8 122626714 122626714 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:122626714C>G uc003yph.2 - 4 1832 c.1294G>C c.(1294-1296)GTC>CTC p.V432L NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 432 Helical; Name=5; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AAGACCATGACGATATTTCCT 0.428 NaN 0 0 0 0.004482 0 9 206 DGAT1 8694 broad.mit.edu 37 8 145540687 145540687 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr8:145540687C>G uc003zbv.3 - 15 1514 c.1246G>C c.(1246-1248)GAG>CAG p.E416Q DGAT1_uc010mfv.2_Missense_Mutation_p.R250P NM_012079 NP_036211 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 416 Lumenal (Potential). triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity 0 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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GCACTGACCTCGTGGAAGAAG 0.647 NaN 0 0 0 0.006122 0 19 37 TTC16 158248 broad.mit.edu 37 9 130482603 130482603 + Nonsense_Mutation SNP G G T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr9:130482603G>T uc004brq.1 + 6 653 c.586G>T c.(586-588)GAG>TAG p.E196* PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.E183*|TTC16_uc004brr.1_Nonsense_Mutation_p.E141*|TTC16_uc010mxn.1_5'UTR NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 196 binding 0 CATCACCAACGAGCTGAAGCA 0.622 NaN 1 0 4.18559e-23 0.00361 4.46257e-23 50 37 TSC1 7248 broad.mit.edu 37 9 135781236 135781236 + Nonsense_Mutation SNP C C A rs118203570 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr9:135781236C>A uc004cca.2 - 15 1963 c.1729G>T c.(1729-1731)GAG>TAG p.E577* TSC1_uc004ccb.3_Nonsense_Mutation_p.E576*|TSC1_uc011mcq.1_Nonsense_Mutation_p.E526*|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 577 E -> D. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) ATACTGGTCTCCAAAGAAGTC 0.547 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 1 0 4.26978e-12 0.00333 4.43812e-12 22 21 GPSM1 26086 broad.mit.edu 37 9 139250815 139250815 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr9:139250815C>T uc004chd.2 + 13 1854 c.1634C>T c.(1633-1635)TCG>TTG p.S545L GPSM1_uc011mdu.1_Missense_Mutation_p.S36L|GPSM1_uc004che.2_Missense_Mutation_p.S36L NM_001145638 NP_001139110 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 (AGS3-like, C. 545 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) ATGACGGCCTCGCCCCAGACC 0.721 NaN 0 0 0 0.004482 0 9 8 CCDC120 90060 broad.mit.edu 37 X 48925325 48925325 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:48925325G>C uc010nik.2 + 10 2077 c.1570G>C c.(1570-1572)GAA>CAA p.E524Q CCDC120_uc011mmq.1_Missense_Mutation_p.E512Q|CCDC120_uc004dmf.2_Missense_Mutation_p.E524Q|CCDC120_uc010nil.2_Missense_Mutation_p.E524Q|CCDC120_uc011mmr.1_Missense_Mutation_p.E524Q|CCDC120_uc011mms.1_Missense_Mutation_p.E512Q NM_033626 NP_296375 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 isoform 3 524 Pro-rich. protein binding pancreas(1) 1 AGAGGCTGCCGAAGGCCCTGA 0.657 NaN 0 0 0 0.009096 0 4 0 UBQLN2 29978 broad.mit.edu 37 X 56591564 56591564 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:56591564C>G uc004dus.2 + 1 1493 c.1258C>G c.(1258-1260)CCT>GCT p.P420A UBQLN2_uc011moq.1_Missense_Mutation_p.P420A NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 420 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 TACTGCAAATCCTCAGCTGCA 0.542 NaN 0 0 0 0.000978 0 12 5 ZC3H12B 340554 broad.mit.edu 37 X 64722819 64722819 + Missense_Mutation SNP G G C TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:64722819G>C uc010nko.2 + 5 2217 c.2208G>C c.(2206-2208)TTG>TTC p.L736F NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 736 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 CCTATCCCTTGAGTAACAGCC 0.557 NaN 0 0 0 0.003163 0 16 11 TMEM31 203562 broad.mit.edu 37 X 102968912 102968912 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:102968912C>G uc004elh.2 + 3 684 c.493C>G c.(493-495)CTG>GTG p.L165V GLRA4_uc011mse.1_Intron NM_182541 NP_872347 Q5JXX7 TMM31_HUMAN transmembrane protein 31 165 Helical; (Potential). integral to membrane 0 tgtcttcattctgatcttctt 0.159 NaN 0 0 0 0.001984 0 7 2 STAG2 10735 broad.mit.edu 37 X 123176495 123176495 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:123176495G>A uc004etz.3 + 6 801 c.462G>A c.(460-462)GAG>GAA p.E154E STAG2_uc004eua.2_Silent_p.E154E|STAG2_uc004eub.2_Silent_p.E154E|STAG2_uc004euc.2_Silent_p.E154E|STAG2_uc004eud.2_Silent_p.E154E|STAG2_uc004eue.2_Silent_p.E154E NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 154 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 AATTCGATGAGGTAACTTACT 0.279 NaN 0 0 0 0.00245 0 15 5 ENOX2 10495 broad.mit.edu 37 X 129771250 129771250 + Missense_Mutation SNP C C G TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:129771250C>G uc004evw.2 - 12 1769 c.1351G>C c.(1351-1353)GAA>CAA p.E451Q ENOX2_uc004evx.2_Missense_Mutation_p.E422Q|ENOX2_uc004evy.2_Missense_Mutation_p.E422Q|ENOX2_uc004evv.2_Missense_Mutation_p.E276Q NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 451 Potential. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 AGCTGCTGTTCTTTGTTAGGG 0.473 NaN 0 0 0 0.00361 0 83 44 ENOX2 10495 broad.mit.edu 37 X 129771262 129771262 + Missense_Mutation SNP C C A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:129771262C>A uc004evw.2 - 12 1757 c.1339G>T c.(1339-1341)GAC>TAC p.D447Y ENOX2_uc004evx.2_Missense_Mutation_p.D418Y|ENOX2_uc004evy.2_Missense_Mutation_p.D418Y|ENOX2_uc004evv.2_Missense_Mutation_p.D272Y NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 447 Potential. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 TTGTTAGGGTCATCTTCTCTG 0.473 NaN 1 0 5.00475e-40 0.00361 5.39545e-40 84 41 SPANXC 64663 broad.mit.edu 37 X 140336533 140336533 + Missense_Mutation SNP C C T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chrX:140336533C>T uc004fbk.2 - 1 114 c.58G>A c.(58-60)GAG>AAG p.E20K SPANXC_uc004fbl.2_Intron NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN sperm protein associated with the nucleus, X 20 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) TCATTCACCTCGTTGGATTCA 0.303 NaN 0 0 0 0.00361 0 52 30 IL22RA1 58985 broad.mit.edu 37 1 24463780 24463780 + Frame_Shift_Del DEL C C - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr1:24463780delC uc001biq.1 - 3 235 c.196delG c.(196-198)GTGfs p.V66fs IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.1_5'UTR|IL22RA1_uc010oeh.1_Frame_Shift_Del_p.V66fs NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 66 Extracellular (Potential).|Fibronectin type-III 1. integral to membrane interferon receptor activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TTCTTTGCCACCCAGTCCCTC 0.587 NaN NaN NaN NaN NaN NaN 22 75 --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs71859853 TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr11:124750448_124750453delCGGAGT uc001qbc.2 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)CGGAGTdel p.RS1367del ROBO3_uc001qbd.2_In_Frame_Del_p.RS292del|ROBO3_uc010sar.1_In_Frame_Del_p.RS416del|ROBO3_uc001qbe.2_In_Frame_Del_p.RS292del|ROBO3_uc001qbf.1_In_Frame_Del_p.RS251del NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1367_1368 Cytoplasmic (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.519 NaN NaN NaN NaN NaN NaN 3 5 --- --- CAB39L 81617 broad.mit.edu 37 13 49957036 49957037 + Frame_Shift_Ins INS - - T TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr13:49957036_49957037insT uc001vcw.2 - 2 508_509 c.10_11insA c.(10-12)ATGfs p.M4fs CAB39L_uc001vcx.2_Frame_Shift_Ins_p.M4fs|CAB39L_uc010adf.2_Frame_Shift_Ins_p.M1fs NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 4 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding 0 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) AAACAAAGGCATTTTTTTCATG 0.287 NaN NaN NaN NaN NaN NaN 16 63 --- --- FOXA1 3169 broad.mit.edu 37 14 38061263 38061263 + Frame_Shift_Del DEL G G - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr14:38061263delG uc001wuf.2 - 2 1038 c.726delC c.(724-726)TCCfs p.S242fs FOXA1_uc010tpz.1_Frame_Shift_Del_p.S209fs NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 242 Fork-head. chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GCGTCCAGTAGGAGCCCTTGC 0.587 NaN NaN NaN NaN NaN NaN 46 39 --- --- SPG21 51324 broad.mit.edu 37 15 65275846 65275846 + Frame_Shift_Del DEL T T - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr15:65275846delT uc002aod.2 - 2 155 c.62delA c.(61-63)AAGfs p.K21fs SPG21_uc002aoe.2_Frame_Shift_Del_p.K21fs|SPG21_uc010bhb.2_Frame_Shift_Del_p.K21fs|SPG21_uc010bhc.2_5'UTR NM_001127889 NP_001121361 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 isoform a 21 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding 0 CATACATACCTTTTTAAGGGG 0.333 NaN NaN NaN NaN NaN NaN 2 4 --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr16:24807240delA uc002dmm.2 + 9 3655 c.3541delA c.(3541-3543)AAAfs p.K1181fs TNRC6A_uc010bxs.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.2_Frame_Shift_Del_p.K869fs NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1181 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.224 NaN NaN NaN NaN NaN NaN 7 164 --- --- MYOM1 8736 broad.mit.edu 37 18 3164366 3164366 + Frame_Shift_Del DEL G G - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr18:3164366delG uc002klp.2 - 10 1745 c.1411delC c.(1411-1413)CATfs p.H471fs MYOM1_uc002klq.2_Frame_Shift_Del_p.H471fs NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 471 Ig-like C2-type 2. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TTGTTGAGATGGGAAAATGTC 0.393 NaN NaN NaN NaN NaN NaN 9 15 --- --- NGEF 25791 broad.mit.edu 37 2 233744322 233744324 + In_Frame_Del DEL CTC CTC - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr2:233744322_233744324delCTC uc002vts.2 - 15 2256_2258 c.2008_2010delGAG c.(2008-2010)GAGdel p.E670del NGEF_uc010zmm.1_In_Frame_Del_p.E393del|NGEF_uc010fyg.1_In_Frame_Del_p.E578del NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 670 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GATTCAAGATCTCCTCAGTCATG 0.581 NaN NaN NaN NaN NaN NaN 44 106 --- --- CDKN1A 1026 broad.mit.edu 37 6 36652009 36652010 + Frame_Shift_Ins INS - - GG TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 - GG - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:36652009_36652010insGG uc003omm.3 + 2 253_254 c.131_132insGG c.(130-132)GAGfs p.E44fs CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E78fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E44fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E44fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 44 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 TGCATCCAGGAGGCCCGTGAGC 0.658 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 17 40 --- --- UNC5CL 222643 broad.mit.edu 37 6 40996310 40996316 + Frame_Shift_Del DEL GGGGCTG GGGGCTG - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr6:40996310_40996316delGGGGCTG uc003opi.2 - 9 1442_1448 c.1353_1359delCAGCCCC c.(1351-1359)CGCAGCCCCfs p.R451fs NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN unc-5 homolog C-like 451_453 Death.|Cytoplasmic (Potential). signal transduction cytoplasm|integral to membrane ovary(2) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGCCGCTGCGGGGCTGCGCTGGCAGG 0.671 NaN NaN NaN NaN NaN NaN 12 66 --- --- MLL3 58508 broad.mit.edu 37 7 151845284 151845288 + Frame_Shift_Del DEL GAAGA GAAGA - TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 GAAGA - GAAGA GAAGA Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 357a748c-0c33-4408-b31f-dc7f0375031d 6f6c0555-16e2-4b99-8f40-07197d272e0b g.chr7:151845284_151845288delGAAGA uc003wla.2 - 52 13943_13947 c.13724_13728delTCTTC c.(13723-13728)CTCTTCfs p.L4575fs MLL3_uc003wkz.2_Frame_Shift_Del_p.L3693fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.L733fs|MLL3_uc003wky.2_Frame_Shift_Del_p.L2139fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4575_4576 FYR N-terminal. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGCCCACAGGGAAGAGTGCTTTAGG 0.566 NaN N medulloblastoma NaN NaN NaN NaN NaN 16 41 --- ---