Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TRPC4 7223 broad.mit.edu 37 13 38320463 38320463 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:38320463G>A ENST00000379705.3 - 3 1365 c.508C>T c.(508-510)Cga>Tga p.R170* TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R170*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.R170*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R170*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R170*|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R170*|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R170* Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 170 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCGTGGGGTCGAGGCACTGAG 0.473000 56 70 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43126660 43126660 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:43126660C>T ENST00000230419.4 + 18 3048 c.2827C>T c.(2827-2829)Caa>Taa p.Q943* PTK7_ENST00000352931.2_Nonsense_Mutation_p.Q887*|PTK7_ENST00000349241.2_Nonsense_Mutation_p.Q813*|PTK7_ENST00000481273.1_Nonsense_Mutation_p.Q951*|PTK7_ENST00000345201.2_Nonsense_Mutation_p.Q903* NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 943 Interaction with CTNNB1.|Protein kinase; inactive. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TGCCCAGAGACAAGTGAAGGT 0.592000 51 57 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52376715 52376715 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:52376715A>C ENST00000420592.1 - 6 1684 c.351T>G c.(349-351)caT>caG p.H117Q ZNF577_ENST00000451628.2_Missense_Mutation_p.H117Q|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.H176Q Q9BSK1 ZN577_HUMAN zinc finger protein 577 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CAGTTCTCTGATGTTGAATAA 0.463000 4 139 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90816721 90816721 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:90816721C>T ENST00000394980.1 + 2 918 c.599C>T c.(598-600)tCa>tTa p.S200L MMRN1_ENST00000394981.1_Missense_Mutation_p.S166L|MMRN1_ENST00000264790.2_Missense_Mutation_p.S200L Q13201 MMRN1_HUMAN multimerin 1 200 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TACCAAAAATCAAATTTCGAA 0.448000 16 17 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767765 41767765 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:41767765C>T ENST00000379483.3 - 1 937 c.629G>A c.(628-630)cGg>cAg p.R210Q NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 210 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) AGTCTCCTCCCGAATTGAACC 0.537000 49 232 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 871159 871159 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:871159G>A ENST00000316157.3 - 12 1370 c.1330C>T c.(1330-1332)Cga>Tga p.R444* NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 444 nucleotide binding|RNA binding p.R444*(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TTAATTAATCGATCTGCAGTG 0.463000 74 21 0 0 1 0 0 TRIM8 81603 broad.mit.edu 37 10 104414852 104414852 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:104414852C>T ENST00000302424.6 + 3 804 c.682C>T c.(682-684)Ctg>Ttg p.L228L TRIM8_ENST00000487927.1_3'UTR NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 228 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) AGTGAACCAACTGAAGGAGGA 0.572000 28 39 0 0 1 0 0 ZYG11B 79699 broad.mit.edu 37 1 53245584 53245584 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:53245584G>A ENST00000294353.6 + 4 1156 c.1011G>A c.(1009-1011)cgG>cgA p.R337R ZYG11B_ENST00000545132.1_Silent_p.R337R|ZYG11B_ENST00000443756.2_Silent_p.R337R NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 337 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 ACAGTGAACGGGCATTCTTTG 0.388000 78 46 0 0 1 0 0 SPIC 121599 broad.mit.edu 37 12 101880137 101880137 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:101880137G>A ENST00000551346.1 + 6 494 c.335G>A c.(334-336)cGa>cAa p.R112Q SPIC_ENST00000299272.5_Missense_Mutation_p.R112Q Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 112 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 AAGAAGCTCCGACTGTTTGAA 0.428000 78 18 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40411976 40411976 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:40411976C>T ENST00000221347.6 - 7 3659 c.3652G>A c.(3652-3654)Gag>Aag p.E1218K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1218 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGCCGCCCTCCTGGCAGTGG 0.682000 44 66 0 0 1 0 0 CCDC144NL-AS1 440416 broad.mit.edu 37 17 20861666 20861666 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:20861666G>A ENST00000582583.1 + 0 750 RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000584433.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA ATCCCCCAAAGTGGGATACCA 0.448000 6 7 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172832 5172832 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:5172832G>A ENST00000380367.1 - 2 1185 c.768C>T c.(766-768)ctC>ctT p.L256L OR52A1_ENST00000328942.1_Silent_p.L256L Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 256 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAGGCAAGGAGGTAGAACT 0.428000 27 68 0 0 1 0 0 C4A 720 broad.mit.edu 37 6 31962366 31962366 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:31962366G>A ENST00000428956.2 + 21 2768 c.2684G>A c.(2683-2685)cGg>cAg p.R895Q C4A_ENST00000498271.1_Missense_Mutation_p.R895Q NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) GGCTCTGCCCGGCCTGTTGCC 0.692000 27 28 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7773063 7773063 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:7773063A>G ENST00000338316.4 + 18 2322 c.2233A>G c.(2233-2235)Att>Gtt p.I745V ADCY2_ENST00000537121.1_Missense_Mutation_p.I565V NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 745 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CTACAGCTGCATTCTGGGACT 0.468000 44 270 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49700100 49700100 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:49700100C>T ENST00000252826.5 + 17 2740 c.2614C>T c.(2614-2616)Ctc>Ttc p.L872F TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Missense_Mutation_p.L518F NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 872 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCTAGTGGCTCTCACCTGCTT 0.716000 6 30 0 0 1 0 0 KCNMB4 27345 broad.mit.edu 37 12 70760624 70760624 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:70760624T>A ENST00000258111.4 + 1 569 c.110T>A c.(109-111)tTc>tAc p.F37Y NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 37 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ATCTTCGGCTTCTGCTGGCTG 0.612000 41 406 0 0 1 0 0 RGL4 266747 broad.mit.edu 37 22 24036534 24036534 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:24036534G>A ENST00000290691.5 + 5 2083 c.912_splice c.e5-1 p.E305_splice RGL4_ENST00000401461.1_Splice_Site_p.E169_splice NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 305 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CCCTCTCCAGGAGTGCCTAAG 0.572000 57 37 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938722 2938722 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:2938722G>A ENST00000378404.2 + 1 677 c.472G>A c.(472-474)Gac>Aac p.D158N NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 158 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCTGGTGGTGGACAGCGGGGA 0.632000 40 122 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136501805 136501805 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:136501805G>A ENST00000393056.2 + 1 324 c.312G>A c.(310-312)tgG>tgA p.W104* NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 104 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) TGGTGCTCTGGACCGATGGGG 0.607000 42 11 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927367 43927367 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:43927367T>A ENST00000282406.4 + 8 1380 c.1270T>A c.(1270-1272)Tct>Act p.S424T NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 424 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TAACTCACTCTCTGGAAAAGG 0.443000 64 125 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134659722 134659722 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:134659722C>T ENST00000368586.5 - 44 6377 c.6277G>A c.(6277-6279)Gcc>Acc p.A2093T TTC40_ENST00000263170.5_Missense_Mutation_p.A254T NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 254 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 GTCTCTGAGGCCGAGCAGCTC 0.682000 9 26 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71029589 71029589 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:71029589C>T ENST00000334414.6 - 2 357 c.313G>A c.(313-315)Gaa>Aaa p.E105K PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.E104K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E105K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAGGCATTTTCCACCTCAAGG 0.537000 6 106 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28196959 28196959 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:28196959G>A ENST00000354638.3 - 18 2077 c.1922C>T c.(1921-1923)tCg>tTg p.S641L OCA2_ENST00000353809.5_Missense_Mutation_p.S617L|OCA2_ENST00000382996.2_Missense_Mutation_p.S641L NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 641 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.S641W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGGACAAACGAATTGAGGAA 0.443000 Oculocutaneous Albinism 37 57 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295535 62295535 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:62295535G>A ENST00000378024.4 - 5 6628 c.6354C>T c.(6352-6354)tcC>tcT p.S2118S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2118 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CATCAGGCATGGAGATCTTGG 0.512000 175 229 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109381664 109381664 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:109381664G>A ENST00000283195.6 + 20 4795 c.4669G>A c.(4669-4671)Gaa>Aaa p.E1557K NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1557 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AGTGCGAAATGAAGCAAATGC 0.408000 104 139 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582174 82582174 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:82582174G>A ENST00000423517.2 - 5 8432 c.8095C>T c.(8095-8097)Cct>Tct p.P2699S PCLO_ENST00000333891.8_Missense_Mutation_p.P2699S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2630 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTCTGGAGGAATTGTTATG 0.403000 8 22 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885601 29885601 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:29885601G>A ENST00000310624.6 + 4 2005 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 664 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CCCAGAGAAGGAAGAGGCCAA 0.562000 23 71 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64133293 64133293 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:64133293G>A ENST00000295902.6 - 7 1458 c.873C>T c.(871-873)tcC>tcT p.S291S PRICKLE2_ENST00000564377.1_Silent_p.S347S NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 291 LIM zinc-binding 3. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GCCCCAGGAGGGATTTCTTGC 0.542000 75 117 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148924065 148924065 + Silent SNP G G A rs117829763 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:148924065G>A ENST00000264613.6 - 6 1360 c.1098C>T c.(1096-1098)atC>atT p.I366I NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 366 cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GCTTCCCACGGATATTATCCT 0.413000 27 88 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130293331 130293331 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:130293331G>A ENST00000358511.6 + 7 3540 c.3509G>A c.(3508-3510)aGg>aAg p.R1170K COL6A6_ENST00000453409.2_Missense_Mutation_p.R1170K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1170 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTCAATAAAAGGATCGTTCGC 0.448000 24 26 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184689496 184689496 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:184689496C>T ENST00000287546.4 + 39 3547 c.3376C>T c.(3376-3378)Ctt>Ttt p.L1126F VPS8_ENST00000446204.2_Missense_Mutation_p.L1034F|VPS8_ENST00000436792.2_Missense_Mutation_p.L1124F|VPS8_ENST00000437079.3_Missense_Mutation_p.L1126F NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1126 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GACCATTGCTCTTTGCCAGAG 0.393000 9 23 0 0 1 0 0 FOXRED1 55572 broad.mit.edu 37 11 126147010 126147010 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:126147010C>T ENST00000263578.5 + 10 1220 c.1146C>T c.(1144-1146)ttC>ttT p.F382F FOXRED1_ENST00000532125.1_Silent_p.F368F|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Silent_p.F212F NM_017547.3 NP_060017.1 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 1 382 integral to membrane|mitochondrion oxidoreductase activity|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) ACCATGATTTCTTCCAGGACA 0.542000 100 109 0 0 1 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257771 41257771 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:41257771A>G ENST00000307221.4 - 1 359 c.228T>C c.(226-228)ggT>ggC p.G76G XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 76 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 AATGACTTCCACCTCCGTTTA 0.353000 4 150 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304559 53304559 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:53304559A>G ENST00000438150.2 - 2 1273 c.380T>C c.(379-381)aTt>aCt p.I127T ZNF28_ENST00000360272.4_Missense_Mutation_p.I127T|ZNF28_ENST00000414252.2_Missense_Mutation_p.I127T|ZNF28_ENST00000457749.2_Missense_Mutation_p.I180T P17035 ZNF28_HUMAN zinc finger protein 28 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CCTACAACAAATTCTTTGGGA 0.368000 48 170 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18491677 18491677 + Nonsense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:18491677T>A ENST00000336714.3 + 2 630 c.198T>A c.(196-198)tgT>tgA p.C66* SEC23B_ENST00000262544.2_Nonsense_Mutation_p.C66*|SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377475.3_Nonsense_Mutation_p.C66*|SEC23B_ENST00000377465.1_Nonsense_Mutation_p.C66* NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 66 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 GGCCAACTTGTAAAGCTGTTC 0.383000 93 118 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961642 73961642 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:73961642C>T ENST00000373468.1 - 3 3401 c.2750G>A c.(2749-2751)gGa>gAa p.G917E KIAA2022_ENST00000055682.5_Missense_Mutation_p.G917E Q5QGS0 K2022_HUMAN KIAA2022 917 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTGGGAGGCTCCAAATTCACT 0.458000 19 3 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24974803 24974803 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:24974803C>T ENST00000250378.3 - 5 692 c.663G>A c.(661-663)cgG>cgA p.R221R CMA1_ENST00000206446.4_Silent_p.R110R|RP11-80A15.1_ENST00000555109.1_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 221 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) TTGCATCCGACCGTCCATAGG 0.602000 39 33 0 0 1 0 0 STX19 415117 broad.mit.edu 37 3 93734101 93734101 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:93734101G>A ENST00000315099.2 - 2 269 c.13C>T c.(13-15)Ctt>Ttt p.L5F ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron NM_001001850.2 NP_001001850.1 Q8N4C7 STX19_HUMAN syntaxin 19 5 intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity kidney(2)|large_intestine(2)|lung(4)|prostate(1) 9 AGTTCTTGAAGTCGGTCTTTC 0.383000 33 43 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170063677 170063677 + Missense_Mutation SNP G G A rs143884041 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:170063677G>A ENST00000263816.3 - 39 6838 c.6553C>T c.(6553-6555)Ctt>Ttt p.L2185F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2185 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGACTTTAAGAAGAACACGG 0.418000 49 69 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138450896 138450896 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:138450896G>A ENST00000344876.4 - 1 2733 c.2347C>T c.(2347-2349)Cct>Tct p.P783S PCDH18_ENST00000507846.1_Missense_Mutation_p.P563S|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P783S NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 783 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCTAAGGTAGGAGATGAAGAT 0.507000 9 43 0 0 1 0 0 SPAG11B 10407 broad.mit.edu 37 8 7320368 7320368 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:7320368G>A ENST00000317900.5 - 2 245 c.75C>T c.(73-75)gcC>gcT p.A25A SPAG11B_ENST00000398462.2_Silent_p.A25A|SPAG11B_ENST00000361111.2_Silent_p.A25A|SPAG11B_ENST00000297498.2_Silent_p.A25A|SPAG11B_ENST00000359758.5_Silent_p.A25A NM_058203.2 NP_478110.1 Q08648 SG11B_HUMAN sperm associated antigen 11B 25 spermatogenesis extracellular region large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) TCACATGTCTGGCTTGAGACG 0.587000 41 144 0 0 1 0 0 SEPT4 5414 broad.mit.edu 37 17 56599281 56599281 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:56599281C>T ENST00000426861.1 - 6 873 c.787G>A c.(787-789)Gga>Aga p.G263R SEPT4_ENST00000393086.1_Intron|SEPT4_ENST00000583114.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000580809.1_Missense_Mutation_p.G164R|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000317268.3_Intron NM_080415.2 NP_536340.1 O43236 SEPT4_HUMAN septin 4 0 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGCCTGTTCCCTTGACAGCA 0.602000 50 69 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37913579 37913579 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:37913579G>T ENST00000357972.5 + 3 779 c.233G>T c.(232-234)gGa>gTa p.G78V SYTL5_ENST00000297875.2_Missense_Mutation_p.G78V|SYTL5_ENST00000456733.2_Missense_Mutation_p.G78V|TM4SF2_ENST00000465127.1_Intron Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 78 RabBD. intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 TTTGACCGGGGAGACCCTTGT 0.517000 55 5 4.64241e-40 4.77276e-40 1 1 0 PCLO 27445 broad.mit.edu 37 7 82579060 82579060 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:82579060G>A ENST00000423517.2 - 6 11181 c.10844C>T c.(10843-10845)tCc>tTc p.S3615F PCLO_ENST00000333891.8_Missense_Mutation_p.S3615F|PCLO_ENST00000437081.1_Missense_Mutation_p.S335F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3546 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTGGGTGGGGAAGGAGCCAG 0.498000 51 36 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9489684 9489684 + Silent SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:9489684C>A ENST00000402466.1 + 16 2571 c.1803C>A c.(1801-1803)acC>acA p.T601T SETD5_ENST00000402198.1_Silent_p.T699T|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Silent_p.T718T|SETD5_ENST00000302463.6_Silent_p.T601T|SETD5_ENST00000406341.1_Silent_p.T699T Q9C0A6 SETD5_HUMAN SET domain containing 5 699 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) ACCCCAAAACCAAAAAGGTAA 0.433000 10 11 1.3612e-06 1.37228e-06 1 1 0 C12orf40 283461 broad.mit.edu 37 12 40114658 40114658 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:40114658G>A ENST00000324616.5 + 13 1718 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 522 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 CAAAACCAAGGAAAAAATGAA 0.294000 21 6 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100333389 100333389 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:100333389G>A ENST00000542585.1 + 0 248 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CAGCTCTAGGGACAACTGTGA 0.498000 4 20 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961496 1961496 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:1961496C>T ENST00000217305.2 - 4 463 c.238G>A c.(238-240)Gag>Aag p.E80K PDYN_ENST00000540134.1_Missense_Mutation_p.E80K|PDYN_ENST00000539905.1_Missense_Mutation_p.E80K|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 80 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCCAAGTCCTCCTTGTCATTG 0.572000 71 92 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16455387 16455387 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:16455387G>A ENST00000395824.1 - 6 2686 c.2069C>T c.(2068-2070)tCa>tTa p.S690L ZNF287_ENST00000395825.3_Missense_Mutation_p.S690L Q9HBT7 ZN287_HUMAN zinc finger protein 287 683 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TTGATTAAGTGATGAGGAATA 0.363000 16 44 0 0 1 0 0 MSL1 339287 broad.mit.edu 37 17 38285607 38285607 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:38285607C>T ENST00000398532.3 + 3 1417 c.1102C>T c.(1102-1104)Ccc>Tcc p.P368S MSL1_ENST00000578648.1_Missense_Mutation_p.P368S|MSL1_ENST00000579565.1_Missense_Mutation_p.P105S|MSL1_ENST00000577454.1_Missense_Mutation_p.P368S Q68DK7 MSL1_HUMAN male-specific lethal 1 homolog (Drosophila) 368 histone H4-K16 acetylation MSL complex endometrium(1)|kidney(2)|large_intestine(2)|lung(2) 7 TAAAGAGGAACCCTGTGGTTC 0.428000 27 54 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308423 205308423 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:205308423G>A ENST00000367156.3 - 7 1472 c.656C>T c.(655-657)aCc>aTc p.T219I KLHDC8A_ENST00000537168.1_Missense_Mutation_p.T106I|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T219I|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.T85I|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T219I NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 219 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) GTTGTCCAGGGTCACAAAGCT 0.567000 21 57 0 0 1 0 0 EIF2D 1939 broad.mit.edu 37 1 206776555 206776555 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:206776555C>T ENST00000271764.2 - 6 742 c.534G>A c.(532-534)cgG>cgA p.R178R EIF2D_ENST00000367114.3_Intron NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 178 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 TGTTTCCAGACCGCCTGGAAA 0.542000 47 48 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3182247 3182247 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:3182247C>T ENST00000355072.5 + 36 4763 c.4618C>T c.(4618-4620)Ccg>Tcg p.P1540S NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1540 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CACAGCCATACCGGCTCTGCA 0.423000 31 68 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038628 75038628 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:75038628C>T ENST00000326665.5 - 14 2984 c.2766G>A c.(2764-2766)ctG>ctA p.L922L C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 922 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTGCCTCTCTCAGGGCTGCTA 0.537000 47 157 0 0 1 0 0 PDIA6 10130 broad.mit.edu 37 2 10927439 10927439 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:10927439G>A ENST00000404371.2 - 13 1618 c.1281C>T c.(1279-1281)tcC>tcT p.S427S PDIA6_ENST00000272227.3_Silent_p.S375S|PDIA6_ENST00000381611.4_Silent_p.S380S|PDIA6_ENST00000540494.1_Silent_p.S372S|PDIA6_ENST00000404824.2_Silent_p.S423S Q15084 PDIA6_HUMAN protein disulfide isomerase family A, member 6 375 Asp/Glu-rich (acidic). cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) GCTCACTGAAGGAGCCTTTTA 0.448000 60 89 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891355 89891355 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:89891355C>T ENST00000534061.1 + 7 1069 c.839C>T c.(838-840)cCc>cTc p.P280L NAALAD2_ENST00000321955.4_Missense_Mutation_p.P280L|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 280 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GTGGGAATCCCCCGAATACCT 0.313000 83 124 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95524312 95524312 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:95524312G>A ENST00000297591.5 - 12 2832 c.2757C>T c.(2755-2757)atC>atT p.I919I KIAA1429_ENST00000421249.2_Silent_p.I919I|KIAA1429_ENST00000437199.1_Silent_p.I919I NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 919 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TCAAGTTATCGATATTCTTTA 0.388000 9 43 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55224500 55224500 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:55224500C>T ENST00000413439.1 + 0 1769 GGGTCAGGTCCTGTGAAGGGG 0.597000 22 15 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11593744 11593744 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:11593744G>T ENST00000262442.3 + 20 4673 c.4605G>T c.(4603-4605)caG>caT p.Q1535H DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1535H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1535 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 NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 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) TTCGGGCACAGCTACCCCAGG 0.488000 17 30 2.39187e-15 2.42499e-15 1 1 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877768 76877768 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:76877768G>A ENST00000328299.3 + 3 437 c.289G>A c.(289-291)Gag>Aag p.E97K ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 97 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 GGTGGGAAATGAGATAGATCG 0.473000 21 65 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48808426 48808426 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:48808426G>A ENST00000316623.5 - 11 1736 c.1281C>T c.(1279-1281)gtC>gtT p.V427V NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 427 Pro-rich. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GTGGTCGAGGGACCGGAATTT 0.473000 142 158 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1081518 1081518 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:1081518C>T ENST00000441003.2 + 12 1563 c.1536C>T c.(1534-1536)ctC>ctT p.L512L MUC2_ENST00000359061.5_Silent_p.L512L NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 512 VWFD 2. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TCATGCAACTCTTTGTGACAC 0.647000 42 45 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739366 38739366 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:38739366C>T ENST00000449082.2 - 27 5344 c.5345G>A c.(5344-5346)cGa>cAa p.R1782Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1782 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAGTATATTTCGATTGGGTTT 0.473000 33 56 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53573412 53573412 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:53573412G>A ENST00000342160.3 - 69 11357 c.10900C>T c.(10900-10902)Ctt>Ttt p.L3634F HUWE1_ENST00000262854.6_Missense_Mutation_p.L3634F|HUWE1_ENST00000474288.1_5'UTR Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3634 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGTTTACAAAGGGTATAACCC 0.493000 19 4 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39659586 39659586 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:39659586C>T ENST00000246635.3 - 3 734 c.688G>A c.(688-690)Gag>Aag p.E230K KRT13_ENST00000336861.3_Missense_Mutation_p.E230K|KRT13_ENST00000587544.1_Missense_Mutation_p.E230K NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 230 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) TTCAGGCTCTCGATCTGCATC 0.582000 62 155 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25919417 25919417 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:25919417A>C ENST00000398988.3 + 9 1195 c.750A>C c.(748-750)gaA>gaC p.E250D KSR1_ENST00000268763.6_Missense_Mutation_p.E250D|KSR1_ENST00000509603.2_Missense_Mutation_p.E387D|KSR1_ENST00000319524.6_Missense_Mutation_p.E387D|KSR1_ENST00000581975.1_3'UTR NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 385 FSEGLSDTCIPLHASGRLTPRAL -> EFRHTSALTQHTAH TQHTSAHTQ (in Ref. 3). Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GTACCAAAGAAGCCCCTGCCT 0.522000 149 101 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61110896 61110896 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:61110896C>T ENST00000394900.3 + 11 1177 c.948C>T c.(946-948)ctC>ctT p.L316L NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 316 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 CTCTCACCCTCCTGCTGGTGG 0.587000 125 159 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3216800 3216800 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:3216800G>A ENST00000602557.1 - 22 3736 c.3181C>T c.(3181-3183)Cac>Tac p.H1061Y CSMD1_ENST00000537824.1_Missense_Mutation_p.H1060Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H1060Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H1060Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H1061Y|CSMD1_ENST00000520002.1_Missense_Mutation_p.H1061Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.H1061Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1061 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACACCAAAGTGAAAACCAATT 0.522000 18 26 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43230705 43230705 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:43230705G>A ENST00000259750.4 + 13 1686 c.1603G>A c.(1603-1605)Gag>Aag p.E535K TTBK1_ENST00000304139.5_Missense_Mutation_p.E484K NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 535 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GCTGGCTGAGGAGGAGGATTT 0.642000 20 36 0 0 1 0 0 PRLH 51052 broad.mit.edu 37 2 238475779 238475779 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:238475779C>T ENST00000165524.1 + 2 225 c.225C>T c.(223-225)ttC>ttT p.F75F NM_015893.1 NP_056977.1 P81277 PRRP_HUMAN prolactin releasing hormone 75 extracellular region endometrium(1)|large_intestine(1) 2 Lung NSC(271;0.142)|all_lung(227;0.175) Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249) TGACCTGCTTCCCCCTGGAAG 0.672000 69 74 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 188 122 1.03563e-105 1.07431e-105 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79321135 79321135 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:79321135G>A ENST00000428286.1 - 8 6178 c.4978C>T c.(4978-4980)Cct>Tct p.P1660S PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2019S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2019 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTGACAGCAGGAAAATTTTCT 0.433000 7 15 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122273434 122273434 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:122273434C>T ENST00000398250.1 + 3 529 c.177C>T c.(175-177)ttC>ttT p.F59F PPAPDC1A_ENST00000369073.3_Silent_p.F49F|PPAPDC1A_ENST00000439221.1_Silent_p.F59F|PPAPDC1A_ENST00000541332.1_Silent_p.F59F|PPAPDC1A_ENST00000398248.1_Intron NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 59 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) CAATTTCTTTCCTCACACCCC 0.398000 58 63 0 0 1 0 0 CDC42EP1 11135 broad.mit.edu 37 22 37964254 37964254 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:37964254C>T ENST00000249014.4 + 3 1023 c.603C>T c.(601-603)gaC>gaT p.D201D NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 201 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) TGGACCTCGACCTTGGGCCCT 0.657000 104 81 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48697010 48697010 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:48697010G>A ENST00000544264.1 - 1 3338 c.3058C>T c.(3058-3060)Cgt>Tgt p.R1020C CELSR3_ENST00000164024.4_Missense_Mutation_p.R1020C Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1020 Cadherin 7. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTTACTGTACGGACAATTCCA 0.547000 79 113 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36100427 36100427 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:36100427C>T ENST00000377966.3 + 11 1751 c.1185C>T c.(1183-1185)atC>atT p.I395I NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 395 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TGCCATTTATCAATATACCTG 0.403000 25 10 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35086398 35086398 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:35086398G>A ENST00000382002.5 - 4 541 c.115C>T c.(115-117)Ccc>Tcc p.P39S PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.P39S|PRLR_ENST00000513753.1_Missense_Mutation_p.P39S|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Missense_Mutation_p.P39S|PRLR_ENST00000310101.5_Missense_Mutation_p.P39S|PRLR_ENST00000231423.3_Missense_Mutation_p.P39S|PRLR_ENST00000397391.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 39 Fibronectin type-III 1. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TCCTTATTGGGAGAACGACAT 0.453000 40 48 0 0 1 0 0 SEC13 6396 broad.mit.edu 37 3 10346764 10346764 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:10346764C>T ENST00000397117.1 - 7 1210 c.619G>A c.(619-621)Gcc>Acc p.A207T SEC13_ENST00000397109.3_Missense_Mutation_p.A207T|SEC13_ENST00000350697.3_Missense_Mutation_p.A221T|SEC13_ENST00000383801.2_Missense_Mutation_p.A267T|SEC13_ENST00000337354.4_Missense_Mutation_p.A224T P55735 SEC13_HUMAN SEC13 homolog (S. cerevisiae) 221 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding p.A221T(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 ATGGAGGGGGCCCAGGCCACA 0.607000 62 73 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30885747 30885747 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:30885747C>T ENST00000454381.3 - 8 787 c.741G>A c.(739-741)atG>atA p.M247I GADL1_ENST00000282538.5_Missense_Mutation_p.M247I Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 247 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) CCTCAGGTATCATTTTACCTC 0.438000 64 84 0 0 1 0 0 GRK1 6011 broad.mit.edu 37 13 114322124 114322124 + Silent SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:114322124C>A ENST00000335678.6 + 1 655 c.423C>A c.(421-423)atC>atA p.I141I NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 141 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) CTGTGGAGATCCAGGACGGGC 0.627000 8 11 5.16669e-11 5.22507e-11 1 1 0 RASGRP1 10125 broad.mit.edu 37 15 38811551 38811551 + Silent SNP C C T rs143250519 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:38811551C>T ENST00000310803.5 - 4 525 c.348G>A c.(346-348)aaG>aaA p.K116K RASGRP1_ENST00000561180.1_Silent_p.K167K|RASGRP1_ENST00000450598.2_Silent_p.K116K|RASGRP1_ENST00000539159.1_Silent_p.K68K|RASGRP1_ENST00000558164.1_Silent_p.K116K|RASGRP1_ENST00000559830.1_Silent_p.K116K NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 116 N-terminal Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) CTGGTGAATTCTTTGCCAAAG 0.388000 48 73 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196965187 196965187 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:196965187G>A ENST00000367414.5 + 6 954 c.898G>A c.(898-900)Gag>Aag p.E300K CFHR5_ENST00000256785.4_Missense_Mutation_p.E276K NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 276 Sushi 5. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ACCTGAACTCGAGTACGGTTA 0.348000 48 80 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90281315 90281315 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:90281315C>T ENST00000268130.7 + 16 1910 c.1809C>T c.(1807-1809)atC>atT p.I603I WDR93_ENST00000560294.1_Silent_p.I575I|WDR93_ENST00000444934.2_Silent_p.I320I NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 603 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) ATGCTGGAATCCAATATTCTG 0.428000 180 315 0 0 1 0 0 C11orf65 160140 broad.mit.edu 37 11 108264076 108264076 + Nonsense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:108264076G>T ENST00000525729.1 - 5 512 c.443C>A c.(442-444)tCa>tAa p.S148* C11orf65_ENST00000393084.1_Nonsense_Mutation_p.S197*|C11orf65_ENST00000526725.1_5'UTR|C11orf65_ENST00000529391.1_Nonsense_Mutation_p.S197* Q8NCR3 CK065_HUMAN chromosome 11 open reading frame 65 197 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ATGATGTGTTGACTTAGCCTC 0.398000 4 160 1 1 1 1 0 BRINP1 1620 broad.mit.edu 37 9 122075565 122075565 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:122075565G>A ENST00000265922.3 - 2 530 c.69C>T c.(67-69)tcC>tcT p.S23S DBC1_ENST00000373964.2_Silent_p.S23S NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 23 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GTTCCTGGTGGGAGGGCTGCA 0.512000 41 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091430 9091430 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9091430G>A ENST00000397910.4 - 1 588 c.385C>T c.(385-387)Cca>Tca p.P129S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 129 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGTCCTTGGGGAACTCAAT 0.498000 44 82 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141162801 141162801 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:141162801C>T ENST00000514251.1 + 4 1850 c.1571C>T c.(1570-1572)aCt>aTt p.T524I ZBTB38_ENST00000321464.5_Missense_Mutation_p.T525I|ZBTB38_ENST00000441582.2_Missense_Mutation_p.T524I Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 524 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 TGTCTTGAAACTTTCATGACC 0.383000 34 38 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31918680 31918680 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:31918680G>A ENST00000556679.1 + 26 3375 c.3320G>A c.(3319-3321)cGa>cAa p.R1107Q CFB_ENST00000425368.2_Missense_Mutation_p.R605Q|CFB_ENST00000456570.1_Missense_Mutation_p.R1107Q|CFB_ENST00000477310.1_Missense_Mutation_p.R956Q P00751 CFAB_HUMAN complement factor B 605 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GGAACAACTCGAGCTTTGAGG 0.527000 52 82 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35452956 35452956 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:35452956C>T ENST00000357182.4 - 16 3954 c.3727G>A c.(3727-3729)Gga>Aga p.G1243R ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Intron NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 1243 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GCTTGTAATCCTAAATCTGAA 0.333000 29 111 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44595524 44595524 + Missense_Mutation SNP C C G rs138244178 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:44595524C>G ENST00000372299.3 + 2 639 c.581C>G c.(580-582)cCg>cGg p.P194R KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 194 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) TTGTTGGGCCCGACTGTGCCT 0.597000 37 127 0 0 1 0 0 TCF7 6932 broad.mit.edu 37 5 133451023 133451023 + Silent SNP G G A rs140392908 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:133451023G>A ENST00000395029.1 + 2 456 c.261G>A c.(259-261)cgG>cgA p.R87R TCF7_ENST00000378564.1_Silent_p.R87R|TCF7_ENST00000321584.4_Silent_p.R87R|TCF7_ENST00000342854.5_Silent_p.R87R|TCF7_ENST00000321603.6_Silent_p.R87R P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 87 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCTCGGGCGGGAACACGCTG 0.721000 6 9 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542541 21542541 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:21542541C>T ENST00000298694.4 + 3 779 c.652C>T c.(652-654)Cct>Tct p.P218S ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P218S Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 218 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CCCTCCACTTCCTGAGGAGGC 0.612000 15 28 0 0 1 0 0 CRYGB 1419 broad.mit.edu 37 2 209007373 209007373 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:209007373C>T ENST00000260988.4 - 3 564 c.517G>A c.(517-519)Gat>Aat p.D173N NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 173 visual perception structural constituent of eye lens cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) CAGTACAAATCCATGACTCGT 0.443000 64 85 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678354 25678354 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:25678354G>A ENST00000382051.3 + 13 2106 c.2056G>A c.(2056-2058)Gaa>Aaa p.E686K SLC34A2_ENST00000504570.1_Missense_Mutation_p.E685K|SLC34A2_ENST00000503434.1_Missense_Mutation_p.E685K NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 686 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CTCAAAGACCGAATGCACGGC 0.572000 T ROS1 NSCLC 40 117 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78415601 78415601 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:78415601C>T ENST00000397909.2 + 9 2155 c.1982C>T c.(1981-1983)tCa>tTa p.S661L NAV3_ENST00000266692.7_Missense_Mutation_p.S661L|NAV3_ENST00000536525.2_Missense_Mutation_p.S661L|NAV3_ENST00000228327.6_Missense_Mutation_p.S661L Q8IVL0 NAV3_HUMAN neuron navigator 3 661 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATGGACTTATCATATAGTAAG 0.423000 HNSCC(70;0.22) 40 12 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235335940 235335940 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:235335940C>T ENST00000264183.3 - 23 4301 c.3804G>A c.(3802-3804)gaG>gaA p.E1268E ARID4B_ENST00000349213.3_Silent_p.E1182E|ARID4B_ENST00000366603.2_Silent_p.E1268E NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 1268 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TACTTTCTCTCTCTTTCTTCT 0.338000 10 5 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 37903866 37903866 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:37903866C>T ENST00000261439.4 + 2 505 c.150C>T c.(148-150)ctC>ctT p.L50L TBC1D1_ENST00000508802.1_Silent_p.L50L|TBC1D1_ENST00000402522.1_Silent_p.L50L NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 50 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TGCGAAGACTCAGCAGGCAGT 0.582000 67 102 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165703502 165703502 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:165703502A>G ENST00000230301.8 - 7 1195 c.1175T>C c.(1174-1176)gTt>gCt p.V392A C6orf118_ENST00000543069.1_3'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 392 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTTCTTTTCAACCTTCTCAGT 0.308000 7 20 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18504864 18504864 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:18504864G>A ENST00000380548.4 + 2 440 c.101G>A c.(100-102)gGc>gAc p.G34D ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.G34D|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.G34D|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G34D|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G34D|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G34D NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 34 TSP type-1 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GACCGGGACGGCCTATGGGAT 0.587000 77 15 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39798475 39798475 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:39798475C>T ENST00000564288.1 + 37 6992 c.6215C>T c.(6214-6216)tCt>tTt p.S2072F MACF1_ENST00000372915.3_Missense_Mutation_p.S2077F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S512F|MACF1_ENST00000567887.1_Missense_Mutation_p.S2109F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2077 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACAGAAGATTCTTCTGTAGAG 0.373000 20 24 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2847860 2847860 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:2847860G>A ENST00000254528.3 + 2 347 c.188G>A c.(187-189)gGa>gAa p.G63E NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 63 EMI. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GTGCTGGAGGGAAGTGAGAGT 0.617000 34 66 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61897243 61897243 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:61897243G>A ENST00000427159.2 - 21 3108 c.2463C>T c.(2461-2463)ttC>ttT p.F821F NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 821 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CCACCACCTTGAAATGACCTC 0.527000 112 138 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81219192 81219192 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:81219192G>A ENST00000599697.1 - 11 1901 c.1902C>T c.(1900-1902)acC>acT p.T634T PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 634 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCAGGCGCAGGGTGACAGCAG 0.637000 55 4 0 0 1 0 0 TMEM55A 55529 broad.mit.edu 37 8 92052877 92052877 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:92052877G>C ENST00000285419.3 - 1 415 c.101C>G c.(100-102)cCc>cGc p.P34R NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 34 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) CTTACCTCTGGGGCTGCTTTC 0.562000 25 126 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54958994 54958994 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:54958994G>A ENST00000273286.5 - 2 418 c.256C>T c.(256-258)Ctt>Ttt p.L86F CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L10F|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 86 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGATTTGAAAGGGAATTGTTG 0.443000 10 26 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36840665 36840665 + RNA SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:36840665A>C ENST00000557188.1 + 0 296 GGGTCTCCACAAATGCTCACC 0.468000 4 21 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115536999 115536999 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:115536999C>T ENST00000354462.3 + 5 556 c.398C>T c.(397-399)aCc>aTc p.T133I PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.T217I|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.T301I|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.T383I pleckstrin homology domain containing, family S member 1 CTGTTTCTTACCCGGTCCATC 0.527000 20 21 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52941539 52941539 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:52941539G>A ENST00000332323.6 + 4 926 c.865G>A c.(865-867)Ggg>Agg p.G289R ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.G276R NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CAAAGAATGTGGGAAAGTCTT 0.373000 15 19 0 0 1 0 0 WFDC2 10406 broad.mit.edu 37 20 44108568 44108568 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:44108568C>T ENST00000342873.3 + 1 490 c.57C>T c.(55-57)tcC>tcT p.S19S WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000488143.1_Intron|WFDC2_ENST00000372676.3_Intron Q14508 WFDC2_HUMAN WAP four-disulfide core domain 2 0 proteolysis|spermatogenesis extracellular space serine-type endopeptidase inhibitor activity lung(1) 1 Myeloproliferative disorder(115;0.0122) ACCCTTACTCCTTTTTCTACC 0.572000 219 339 0 0 1 0 0 HTR2A 3356 broad.mit.edu 37 13 47409284 47409284 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:47409284G>A ENST00000378688.4 - 3 1235 c.1104C>T c.(1102-1104)atC>atT p.I368I HTR2A_ENST00000542664.1_Silent_p.I368I|HTR2A_ENST00000543956.1_Silent_p.I284I P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 368 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGAGATAACCGATCCAAACAA 0.458000 39 38 0 0 1 0 0 RTN4R 65078 broad.mit.edu 37 22 20229598 20229598 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:20229598G>A ENST00000043402.7 - 2 1496 c.1058C>T c.(1057-1059)gCt>gTt p.A353V NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 353 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) GCCTGCCGAAGCTGGTCTTCC 0.667000 42 80 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42719292 42719292 + Silent SNP C C T rs139272745 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:42719292C>T ENST00000230882.4 + 10 1873 c.1683C>T c.(1681-1683)aaC>aaT p.N561N GHR_ENST00000357703.3_Silent_p.N539N|GHR_ENST00000537449.1_Silent_p.N374N NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 561 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CAAGCTTAAACCAAGAGGACA 0.498000 12 32 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102157429 102157429 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:102157429G>A ENST00000306176.1 + 2 246 c.146G>A c.(145-147)aGa>aAa p.R49K ZPLD1_ENST00000466937.1_Missense_Mutation_p.R33K|ZPLD1_ENST00000491959.1_Missense_Mutation_p.R33K NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 33 ZP. integral to membrane p.R49I(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CTCCACAGTAGATTTCCTGGT 0.418000 29 22 0 0 1 0 0 NARF 26502 broad.mit.edu 37 17 80422298 80422298 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:80422298C>T ENST00000390006.4 + 3 541 c.67C>T c.(67-69)Ctt>Ttt p.L23F NARF_ENST00000581743.1_3'UTR|NARF_ENST00000345415.7_Intron|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000309794.10_Missense_Mutation_p.L82F|NARF_ENST00000457415.3_Missense_Mutation_p.L82F NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 82 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CGTTCTGAACCTTAACAAGGT 0.542000 42 45 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494352 7494352 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:7494352G>A ENST00000486284.1 + 6 1507 c.1233G>A c.(1231-1233)gtG>gtA p.V411V GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.V411V|GRM7_ENST00000403881.1_Silent_p.V411V|GRM7_ENST00000357716.4_Silent_p.V411V|GRM7_ENST00000402647.2_Silent_p.V411V NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 411 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TCCAGTTCGTGATTGACGCAG 0.493000 31 40 0 0 1 0 0 RHBDF2 79651 broad.mit.edu 37 17 74475857 74475857 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:74475857G>A ENST00000591885.1 - 4 780 c.230C>T c.(229-231)cCt>cTt p.P77L RHBDF2_ENST00000389760.4_Missense_Mutation_p.P77L|RHBDF2_ENST00000592378.1_Intron|RHBDF2_ENST00000313080.4_Missense_Mutation_p.P106L Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 106 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 GCGGAAGCCAGGGCGCTTCTC 0.647000 27 34 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109031453 109031453 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:109031453C>T ENST00000478945.1 - 3 366 c.120G>A c.(118-120)atG>atA p.M40I NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 40 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CGCTTGGTTCCATTTGTTCCA 0.413000 59 74 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43940861 43940861 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:43940861G>A ENST00000343694.3 + 6 517 c.444_splice c.e6-1 p.E149_splice RBPJL_ENST00000372743.1_Splice_Site_p.E149_splice|RBPJL_ENST00000372741.3_Splice_Site_p.E149_splice NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 149 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) AGCCCCCTAGGAATTCGGCTG 0.647000 OREG0025979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 83 117 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176640206 176640206 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:176640206G>A ENST00000367662.3 + 4 3256 c.2092G>A c.(2092-2094)Ggt>Agt p.G698S PAPPA2_ENST00000367661.3_Missense_Mutation_p.G698S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 698 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGACCTTGCAGGTGCTGCCAC 0.507000 39 59 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56473497 56473497 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:56473497G>A ENST00000291971.3 + 4 2178 c.2107G>A c.(2107-2109)Gat>Aat p.D703N NLRP8_ENST00000590542.1_Missense_Mutation_p.D703N NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 703 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGCAACGAATGATAAGCTGGA 0.512000 67 115 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160953628 160953628 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:160953628C>T ENST00000447678.1 - 39 6016 c.5896G>A c.(5896-5898)Gaa>Aaa p.E1966K LPA_ENST00000316300.5_Missense_Mutation_p.E1966K|LPA_ENST00000484276.1_Intron NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4474 Kringle 18. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTGCACACTTCATTCTCAATA 0.423000 16 37 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 373820 373820 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:373820G>A ENST00000329962.6 + 8 775 c.775G>A c.(775-777)Gaa>Aaa p.E259K NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 259 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 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) GGACCACGTGGAAGTGGGCGT 0.647000 34 128 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38974064 38974064 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:38974064G>A ENST00000355481.4 + 33 4973 c.4842G>A c.(4840-4842)gtG>gtA p.V1614V RYR1_ENST00000360985.3_Silent_p.V1614V|RYR1_ENST00000359596.3_Silent_p.V1614V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1614 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCTGCAGGTGGAGACGAGGC 0.697000 5 10 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36871096 36871096 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:36871096C>T ENST00000301807.6 - 22 8883 c.6986G>A c.(6985-6987)cGa>cAa p.R2329Q TRANK1_ENST00000428977.2_Missense_Mutation_p.R2329Q|TRANK1_ENST00000429976.2_Missense_Mutation_p.R2879Q NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2879 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CAACCAGTCTCGTGCATCCCT 0.483000 56 65 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688275 60688275 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:60688275G>A ENST00000335712.6 - 4 1999 c.1772C>T c.(1771-1773)gCc>gTc p.A591V BCL11A_ENST00000358510.4_Missense_Mutation_p.A557V|BCL11A_ENST00000356842.4_Missense_Mutation_p.A591V|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.A557V|BCL11A_ENST00000537768.1_Missense_Mutation_p.A260V NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 591 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGACTCGCCGGCCACCGAGTC 0.682000 T IGH@ B-CLL 45 66 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37299634 37299634 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:37299634C>T ENST00000231498.3 - 31 3801 c.3598G>A c.(3598-3600)Gag>Aag p.E1200K NUP155_ENST00000513532.1_Missense_Mutation_p.E1136K|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.E1141K NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1200 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity p.E1200K(1) endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTTTGCACTCTGCAAGTTTA 0.368000 52 72 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98606064 98606064 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:98606064C>T ENST00000359863.4 + 69 10985 c.10776C>T c.(10774-10776)tcC>tcT p.S3592S TRRAP_ENST00000355540.3_Silent_p.S3563S|TRRAP_ENST00000446306.3_Silent_p.S3581S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3592 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTTCACTTTCCCTTGTGGAGA 0.617000 87 247 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54841879 54841879 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:54841879C>T ENST00000545554.1 + 27 5867 c.5867C>T c.(5866-5868)tCc>tTc p.S1956F UNC13C_ENST00000537900.1_Missense_Mutation_p.S1954F|UNC13C_ENST00000260323.11_Missense_Mutation_p.S1956F Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1956 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGACAATTATCCAAACTGAAG 0.348000 36 51 0 0 1 0 0 HOOK3 84376 broad.mit.edu 37 8 42857277 42857277 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:42857277G>A ENST00000307602.4 + 17 1848 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K HOOK3_ENST00000524839.1_3'UTR NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 550 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GAAGCTTGAAGAACATCTGTA 0.333000 T RET papillary thyroid 16 53 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134659723 134659723 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:134659723C>T ENST00000368586.5 - 44 6376 c.6276G>A c.(6274-6276)tcG>tcA p.S2092S TTC40_ENST00000263170.5_Silent_p.S253S NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 253 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TCTCTGAGGCCGAGCAGCTCT 0.687000 9 26 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266138 65266138 + RNA SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:65266138A>T ENST00000534336.1 + 0 906 NR_002819.2 TCACACTTTAATCTTCCTTCA 0.458000 46 96 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27480641 27480641 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:27480641G>A ENST00000263980.3 - 1 760 c.185C>T c.(184-186)aCc>aTc p.T62I SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Missense_Mutation_p.T62I NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 62 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) CGGTGGAGCGGTGGTGACATC 0.607000 66 165 0 0 1 0 0 ACOT6 641372 broad.mit.edu 37 14 74086379 74086379 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:74086379C>T ENST00000381139.1 + 2 791 c.460C>T c.(460-462)Cct>Tct p.P154S RP3-414A15.10_ENST00000555011.1_RNA NM_001037162.1 NP_001032239.1 Q3I5F7 ACOT6_HUMAN acyl-CoA thioesterase 6 154 cytosol carboxylesterase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00331) ACCTTATTTTCCTCCTTCTAG 0.483000 30 24 0 0 1 0 0 CENPL 91687 broad.mit.edu 37 1 173776424 173776424 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:173776424G>A ENST00000356198.2 - 4 686 c.401C>T c.(400-402)cCg>cTg p.P134L CENPL_ENST00000345664.6_Missense_Mutation_p.P134L|CENPL_ENST00000367710.3_Missense_Mutation_p.P134L NM_001127181.2 NP_001120653.1 Q8N0S6 CENPL_HUMAN centromere protein L 134 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3) 11 AAATGCTTCCGGGTCCCTTTG 0.363000 16 32 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18343095 18343095 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:18343095C>T ENST00000251900.4 - 4 253 c.94G>A c.(94-96)Gat>Aat p.D32N NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 32 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CAGTGGAAATCATCTGGAAAA 0.363000 58 3 0 0 1 0 0 GSTK1 373156 broad.mit.edu 37 7 142961652 142961652 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:142961652C>T ENST00000479303.1 + 3 224 c.166C>T c.(166-168)Cca>Tca p.P56S GSTK1_ENST00000409500.3_Missense_Mutation_p.P56S|GSTK1_ENST00000358406.5_Missense_Mutation_p.P56S|GSTK1_ENST00000443571.2_Intron|GSTK1_ENST00000494735.1_3'UTR|AC073342.12_ENST00000427392.1_RNA NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 56 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) AAACAAGCCTCCAGGTCTGCT 0.532000 69 213 0 0 1 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864560 102864560 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:102864560G>A ENST00000372628.1 + 3 926 c.568G>A c.(568-570)Ggc>Agc p.G190S TCEAL3_ENST00000243286.3_Missense_Mutation_p.G190S|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.G190S Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 TGGAGGTAGGGGCCAGAGGGG 0.517000 9 185 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38927433 38927433 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:38927433C>T ENST00000335552.4 - 2 545 c.497G>A c.(496-498)aGa>aAa p.R166K NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 166 Coil 1B.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) AGCGGTCAGTCTGGCATTGTC 0.308000 16 52 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673030 186673030 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:186673030G>A ENST00000343098.5 + 17 19264 c.19264G>A c.(19264-19266)Gaa>Aaa p.E6422K FSIP2_ENST00000424728.1_Missense_Mutation_p.E6333K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TAAGTCTAAGGAAAAGTCTTC 0.353000 10 16 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096626 167096626 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:167096626G>A ENST00000361200.2 + 6 2424 c.2258G>A c.(2257-2259)aGc>aAc p.S753N DUSP27_ENST00000443333.1_Missense_Mutation_p.S753N|DUSP27_ENST00000271385.5_Missense_Mutation_p.S753N|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 753 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TCTGTTGCAAGCATGAAGGCA 0.542000 65 109 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27143381 27143381 + Splice_Site SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:27143381A>C ENST00000343028.4 - 6 1094 c.e6+1 TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) CCACATACTCACCTAGGGAAG 0.438000 27 102 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433232 40433232 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:40433232T>G ENST00000221347.6 - 2 1044 c.1037A>C c.(1036-1038)tAt>tCt p.Y346S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 346 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTTGACCACATAGGCTGGGCA 0.582000 31 60 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122538687 122538687 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:122538687C>T ENST00000264357.5 + 10 1714 c.1422C>T c.(1420-1422)atC>atT p.I474I GRIA3_ENST00000542149.1_Silent_p.I474I|GRIA3_ENST00000371251.1_Silent_p.I474I|GRIA3_ENST00000371256.5_Silent_p.I474I|GRIA3_ENST00000541091.1_Silent_p.I458I NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 474 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AATTGTCCATCGTTGGTGACG 0.418000 117 10 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112567 64112567 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:64112567G>A ENST00000356786.5 + 14 2598 c.2554G>A c.(2554-2556)Gag>Aag p.E852K CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 852 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCTGGAGAGCGAGGGCCGCCA 0.726000 5 8 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057884 63057884 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:63057884C>T ENST00000332793.6 + 1 249 c.247C>T c.(247-249)Ctg>Ttg p.L83L SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.L31L NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 83 integral to membrane transmembrane transporter activity p.L83M(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGACTCAAATCTGAGGCCAGA 0.498000 53 81 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18331234 18331234 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:18331234C>T ENST00000355502.3 - 10 1558 c.687G>A c.(685-687)gtG>gtA p.V229V PDE4C_ENST00000262805.11_Silent_p.V197V|PDE4C_ENST00000594617.2_Silent_p.V229V|PDE4C_ENST00000594465.2_Silent_p.V229V|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Silent_p.V123V|PDE4C_ENST00000539010.1_5'UTR Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 229 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CCATCTCCCCCACCGAGTGCC 0.647000 56 91 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92647730 92647730 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:92647730C>T ENST00000318445.6 + 4 1181 c.967C>T c.(967-969)Ctg>Ttg p.L323L SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.L323L NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 323 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GAGGCACCCCCTGGAGCCAGA 0.617000 23 40 0 0 1 0 0 FAM92A1P2 403315 broad.mit.edu 37 4 183959248 183959248 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:183959248G>A ENST00000502308.1 + 0 431 NR_003612.1 AAATGAAACGGGATGACCCCA 0.428000 10 9 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726547 25726547 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:25726547G>C ENST00000297012.3 - 1 243 c.209C>G c.(208-210)gCg>gGg p.A70G NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 70 nucleosome assembly nucleosome|nucleus DNA binding p.A70E(1) breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 ATCGCGAGACGCATTGCCTGC 0.517000 49 67 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42719193 42719193 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:42719193C>T ENST00000230882.4 + 10 1774 c.1584C>T c.(1582-1584)ttC>ttT p.F528F GHR_ENST00000357703.3_Silent_p.F506F|GHR_ENST00000537449.1_Silent_p.F341F NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 528 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAGAAAACTTCCTTATGGACA 0.498000 29 45 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154456751 154456751 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:154456751C>T ENST00000304760.2 - 6 1448 c.1362G>A c.(1360-1362)ctG>ctA p.L454L NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 454 SH2. breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TTGTCTGATTCAGTGTGTATT 0.433000 36 34 0 0 1 0 0 TMOD3 29766 broad.mit.edu 37 15 52188700 52188700 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:52188700C>T ENST00000308580.7 + 7 993 c.712C>T c.(712-714)Cgg>Tgg p.R238W RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.R238W NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 238 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) TGCAGCCACCCGGAGCAATGA 0.398000 79 118 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38927434 38927434 + Nonsense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:38927434T>A ENST00000335552.4 - 2 544 c.496A>T c.(496-498)Aga>Tga p.R166* NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 166 Coil 1B.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GCGGTCAGTCTGGCATTGTCA 0.313000 16 52 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135300380 135300380 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:135300380C>T ENST00000367837.5 - 14 1830 c.1624G>A c.(1624-1626)Gac>Aac p.D542N HBS1L_ENST00000367824.4_Missense_Mutation_p.D378N|HBS1L_ENST00000367826.2_Missense_Mutation_p.D500N|HBS1L_ENST00000527578.1_Missense_Mutation_p.D378N|HBS1L_ENST00000415177.2_Missense_Mutation_p.D477N|HBS1L_ENST00000445176.2_Missense_Mutation_p.D266N NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 542 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) GCCGCCCAGTCGACAGGTTCA 0.428000 25 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569693 179569693 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179569693C>T ENST00000589042.1 - 104 29829 c.29604_splice c.e104-1 p.E9869_splice TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.E8625_splice|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Splice_Site_p.E9552_splice|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9552 Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTCAATTTCCTGAGAAGAA 0.373000 47 58 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130927093 130927093 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:130927093G>A ENST00000261655.4 - 8 916 c.753C>T c.(751-753)ttC>ttT p.F251F RIMBP2_ENST00000535703.1_Silent_p.F159F|RIMBP2_ENST00000536002.1_Silent_p.F159F NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 251 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AATGGTTGATGAAGTTCTGAT 0.607000 58 134 0 0 1 0 0 SORD 6652 broad.mit.edu 37 15 45357500 45357500 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:45357500G>A ENST00000267814.9 + 5 637 c.457G>A c.(457-459)Gcc>Acc p.A153T SORD_ENST00000558580.1_Missense_Mutation_p.A132T NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 153 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) TGAGGAAGGCGCCCTGATCGA 0.488000 50 194 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206821040 206821040 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:206821040C>T ENST00000367106.1 + 4 910 c.437C>T c.(436-438)cCa>cTa p.P146L DYRK3_ENST00000367108.3_Missense_Mutation_p.P146L|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.P166L O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 166 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) ATTAATTATCCAGAAATTTAC 0.423000 44 79 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55151984 55151984 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:55151984G>A ENST00000414150.2 + 15 2852 c.2574G>A c.(2572-2574)gtG>gtA p.V858V MROH7_ENST00000421030.2_Silent_p.V858V|MROH7_ENST00000409996.1_Silent_p.V426V|MROH7_ENST00000339553.5_Silent_p.V858V|MROH7_ENST00000454855.2_Silent_p.V376V|MROH7_ENST00000545244.1_Silent_p.V426V|MROH7_ENST00000395690.2_Silent_p.V858V maestro heat-like repeat family member 7 TGGGCCGTGTGAGGCGCATCT 0.647000 24 73 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57417739 57417739 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:57417739C>T ENST00000543257.1 - 6 1058 c.492G>A c.(490-492)gtG>gtA p.V164V C8B_ENST00000535057.1_Silent_p.V154V|C8B_ENST00000371237.4_Silent_p.V216V NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 216 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TGTAGCTTTCCACATTGTAGG 0.552000 75 45 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107267485 107267485 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:107267485C>T ENST00000334726.2 + 1 1031 c.942C>T c.(940-942)ttC>ttT p.F314F NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATACTGCCTTCATTTCCATCC 0.338000 35 5 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95234484 95234484 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:95234484G>A ENST00000237853.4 - 8 1334 c.985C>T c.(985-987)Cct>Tct p.P329S ELL2_ENST00000431061.2_Intron NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 329 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TTCATTAAAGGATCAATAAAC 0.393000 98 113 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584535 179584535 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179584535G>A ENST00000589042.1 - 82 23908 c.23684C>T c.(23683-23685)cCc>cTc p.P7895L TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7578L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7578 Ig-like 61. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATGGGTTCGGGCTTCTCTAT 0.398000 14 24 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2266817 2266817 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:2266817G>C ENST00000268989.3 + 7 908 c.731G>C c.(730-732)cGc>cCc p.R244P SGSM2_ENST00000574563.1_Missense_Mutation_p.R244P|SGSM2_ENST00000426855.2_Missense_Mutation_p.R244P NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 244 R -> S (in dbSNP:rs17853888). intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GCCTGTGCCCGCGAGTGTGTG 0.637000 14 45 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51361825 51361825 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:51361825T>C ENST00000360617.3 + 4 604 c.604T>C c.(604-606)Tgg>Cgg p.W202R KLK3_ENST00000595952.1_Missense_Mutation_p.W159R|KLK3_ENST00000593997.1_Missense_Mutation_p.W202R|KLK3_ENST00000326003.2_Missense_Mutation_p.W202R|KLK3_ENST00000597483.1_Missense_Mutation_p.W159R P07288 KLK3_HUMAN kallikrein-related peptidase 3 202 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) TGCTGGACGCTGGACAGGGGG 0.522000 95 112 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49573328 49573328 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:49573328C>T ENST00000221444.1 - 2 1718 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 455 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) CCTCACACTTCGGTGACCAGG 0.652000 120 151 0 0 1 0 0 LOC286238 286238 broad.mit.edu 37 9 91262385 91262385 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:91262385C>T ENST00000418343.2 - 0 366 GAAGCATGTCCCGTGTCTGCC 0.433000 54 4 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110864826 110864826 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:110864826C>T ENST00000375820.4 - 6 446 c.324_splice c.e6-1 p.G109_splice COL4A1_ENST00000543140.1_Splice_Site_p.G109_splice NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 109 angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCAGGAATTCCCTGCAATGAA 0.468000 72 230 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40937371 40937371 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:40937371G>A ENST00000246914.5 + 6 1368 c.1347G>A c.(1345-1347)gaG>gaA p.E449E WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 449 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) ACGACGGCGAGAAGCCGGGCC 0.701000 13 20 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734196 28734196 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:28734196G>A ENST00000550043.1 + 0 601 TCAGCATGAGGAACACGAGCG 0.498000 18 44 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133767884 133767884 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:133767884G>A ENST00000367895.5 + 4 664 c.200G>A c.(199-201)gGg>gAg p.G67E EYA4_ENST00000431403.2_Missense_Mutation_p.G67E|EYA4_ENST00000430974.2_Missense_Mutation_p.G67E|EYA4_ENST00000531901.1_Missense_Mutation_p.G67E|EYA4_ENST00000355286.6_Missense_Mutation_p.G67E|EYA4_ENST00000525849.1_Missense_Mutation_p.G67E|EYA4_ENST00000355167.3_Missense_Mutation_p.G67E|EYA4_ENST00000452339.2_Missense_Mutation_p.G67E NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 67 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ACTACAAATGGGACAGGAGGT 0.378000 30 32 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27362507 27362507 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:27362507G>T ENST00000521400.1 + 4 811 c.381G>T c.(379-381)ctG>ctT p.L127L EPHX2_ENST00000380476.3_Silent_p.L74L|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000518379.1_Silent_p.L127L|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Silent_p.L61L NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 127 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) ACACCTGGCTGGACGACCGTG 0.527000 26 31 1.02151e-06 1.03047e-06 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49447822 49447822 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:49447822G>A ENST00000301067.7 - 5 611 c.612C>T c.(610-612)ttC>ttT p.F204F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCATGGATAGGAAGGAACCGC 0.582000 36 4 0 0 1 0 0 SCFD2 152579 broad.mit.edu 37 4 54231935 54231935 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:54231935C>A ENST00000401642.3 - 1 307 c.174G>T c.(172-174)gaG>gaT p.E58D SCFD2_ENST00000388940.4_Missense_Mutation_p.E58D NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 58 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) CGGGCTCGAACTCTCGCAGGT 0.652000 99 104 3.54964e-55 3.66099e-55 1 1 0 LCK 3932 broad.mit.edu 37 1 32745809 32745809 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:32745809C>T ENST00000333070.4 + 12 1515 c.1415C>T c.(1414-1416)cCa>cTa p.P472L LCK_ENST00000373564.3_Missense_Mutation_p.P449L|LCK_ENST00000336890.5_Missense_Mutation_p.P442L NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 442 Protein kinase. L -> H (in Ref. 13; CAA29667). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) ATCCCTTACCCAGGTTAGAGC 0.498000 T TRB@ T-ALL 17 95 0 0 1 0 0 GJA9 81025 broad.mit.edu 37 1 39340268 39340268 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:39340268C>T ENST00000357771.3 - 2 1783 c.1503G>A c.(1501-1503)acG>acA p.T501T RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Silent_p.T501T|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_Intron NM_030772.4 NP_110399.2 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 501 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TGAGATTGTTCGTTAGGGACA 0.448000 151 58 0 0 1 0 0 PARVA 55742 broad.mit.edu 37 11 12534916 12534916 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:12534916G>A ENST00000538608.1 + 9 784 c.648G>A c.(646-648)aaG>aaA p.K216K PARVA_ENST00000334956.8_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000539723.1_Intron Q9NVD7 PARVA_HUMAN parvin, alpha 172 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) AGGTGGGAAAGGGGTGCCTGG 0.527000 20 144 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30676073 30676073 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:30676073C>T ENST00000376406.3 - 8 2930 c.2283G>A c.(2281-2283)gaG>gaA p.E761E MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 761 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCTCAGAGTCCTCAGACTCTC 0.562000 Other conserved DNA damage response genes 33 50 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74902126 74902126 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:74902126C>T ENST00000357877.2 + 9 1262 c.1113C>T c.(1111-1113)gtC>gtT p.V371V SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Silent_p.V216V NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 371 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 GACTGCCTGTCGTGGACAATG 0.532000 OREG0014721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 88 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 169053761 169053761 + Missense_Mutation SNP C C T rs148539759 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:169053761C>T ENST00000354536.5 + 11 1391 c.1171C>T c.(1171-1173)Cgc>Tgc p.R391C SMOC2_ENST00000356284.2_Missense_Mutation_p.R380C NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 380 EF-hand 2. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) GAGGTTCCTTCGCAAAAAATC 0.433000 36 22 0 0 1 0 0 PEPD 5184 broad.mit.edu 37 19 33980919 33980919 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:33980919G>A ENST00000244137.6 - 6 519 c.486C>T c.(484-486)tcC>tcT p.S162S PEPD_ENST00000436370.3_Silent_p.S98S|PEPD_ENST00000397032.4_Silent_p.S162S NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 162 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) TGCCGTCAAAGGAGGCCTCCC 0.622000 17 32 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739325 38739325 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:38739325C>T ENST00000449082.2 - 27 5385 c.5386G>A c.(5386-5388)Gat>Aat p.D1796N NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1796 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGATCTTATCTCCAGGGACC 0.478000 21 37 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570432 61570432 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:61570432A>G ENST00000457692.1 + 9 1474 c.1141A>G c.(1141-1143)Act>Gct p.T381A SERPINB2_ENST00000299502.4_Missense_Mutation_p.T381A NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 381 Reactive bond. anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GACAGGGAGAACTGGACATGG 0.458000 17 46 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40366207 40366207 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:40366207C>T ENST00000221347.6 - 30 14034 c.14027G>A c.(14026-14028)gGc>gAc p.G4676D NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4676 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCCAGCGGGCCGTCGGTGGC 0.701000 34 95 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118970084 118970084 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:118970084G>A ENST00000515256.1 + 3 813 c.641G>A c.(640-642)aGa>aAa p.R214K A1A519 F170A_HUMAN family with sequence similarity 170, member A 214 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 GACACACCCAGAGCCAAGACT 0.597000 82 13 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117027810 117027810 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:117027810T>C ENST00000355044.3 + 13 2115 c.1989T>C c.(1987-1989)tcT>tcC p.S663S NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 663 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TAGCTGCTTCTGATGACAGAT 0.358000 20 70 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010865 59010865 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:59010865G>A ENST00000263093.2 - 7 1770 c.1661C>T c.(1660-1662)aCc>aTc p.T554I SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GGACCGGAAGGTGTCCCCGAG 0.657000 31 41 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119962576 119962576 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:119962576G>A ENST00000464295.1 - 3 589 c.144C>T c.(142-144)gtC>gtT p.V48V GPR156_ENST00000315843.3_Silent_p.V48V|GPR156_ENST00000461057.1_Silent_p.V48V Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 48 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TACCCAAGAGGACAGGAGATA 0.443000 37 27 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29695761 29695761 + Silent SNP C C T rs111270799 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:29695761C>T ENST00000397938.2 + 16 2170 c.1851C>T c.(1849-1851)ggC>ggT p.G617G EWSR1_ENST00000331029.7_Silent_p.G579G|EWSR1_ENST00000332035.6_Silent_p.G561G|EWSR1_ENST00000406548.1_Silent_p.G616G|EWSR1_ENST00000414183.2_Silent_p.G622G|EWSR1_ENST00000332050.6_Silent_p.G544G NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 617 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GACGAGGTGGCCCTGGGGGGC 0.597000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 11 5 0 0 1 0 0 ATXN3L 92552 broad.mit.edu 37 X 13338045 13338045 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:13338045G>A ENST00000380622.2 - 1 473 c.9C>T c.(7-9)ttC>ttT p.F3F GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 3 Josephin. protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 CATGAAAGATGAAATCCATGT 0.433000 6 2 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35857148 35857148 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:35857148C>T ENST00000303115.3 + 1 198 c.69C>T c.(67-69)ggC>ggT p.G23G IL7R_ENST00000511982.1_Silent_p.G23G|IL7R_ENST00000511031.1_Intron|IL7R_ENST00000343305.4_Silent_p.G23G|IL7R_ENST00000506850.1_Silent_p.G23G NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 23 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GAGAAAGTGGCTATGCTCAAA 0.383000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 44 81 0 0 1 0 0 EPT1 85465 broad.mit.edu 37 2 26607985 26607985 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:26607985G>A ENST00000260585.7 + 8 1009 c.890G>A c.(889-891)gGa>gAa p.G297E NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) 297 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding TTTATGGTTGGAACAGCTTTT 0.308000 11 3 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111221 57111221 + Missense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:57111221A>T ENST00000454682.1 - 3 4374 c.4093T>A c.(4093-4095)Tcc>Acc p.S1365T NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCCTCTTTGGAGGATGGAGTA 0.617000 T BCL6 NHL 12 1 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35750560 35750560 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:35750560G>A ENST00000187397.4 + 11 1351 c.895G>A c.(895-897)Gat>Aat p.D299N ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000337271.5_Intron NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 299 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATTTGCACACGATGTGAGTAG 0.438000 28 42 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964946 88964946 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:88964946G>A ENST00000333190.4 + 4 3259 c.2650G>A c.(2650-2652)Gga>Aga p.G884R NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 884 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGTGATCTGGGAAAAGTCAG 0.433000 HNSCC(36;0.09) 18 27 0 0 1 0 0 UBAP1 51271 broad.mit.edu 37 9 34241423 34241423 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:34241423C>T ENST00000536252.1 + 5 798 c.400C>T c.(400-402)Cgg>Tgg p.R134W UBAP1_ENST00000540348.1_Missense_Mutation_p.R134W|UBAP1_ENST00000543944.1_Missense_Mutation_p.R170W|UBAP1_ENST00000545103.1_Missense_Mutation_p.R198W|UBAP1_ENST00000297661.4_Missense_Mutation_p.R134W|UBAP1_ENST00000379186.4_Missense_Mutation_p.R134W|UBAP1_ENST00000359544.2_Missense_Mutation_p.R134W NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 134 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) CACACCAACTCGGGTCAGCAG 0.493000 61 7 0 0 1 0 0 EBPL 84650 broad.mit.edu 37 13 50235286 50235286 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:50235286G>A ENST00000242827.6 - 4 489 c.439C>T c.(439-441)Ctc>Ttc p.L147F EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_Missense_Mutation_p.P77L|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR NM_032565.3 NP_115954.1 Q9BY08 EBPL_HUMAN emopamil binding protein-like 147 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) CACTCTGGGAGGAAGGTCATC 0.542000 50 81 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45421618 45421618 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:45421618A>C ENST00000331493.2 + 7 805 c.394A>C c.(394-396)Aag>Cag p.K132Q ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.K132Q|ITGB3_ENST00000435993.2_3'UTR NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 CAGCGTTCACAAGACTTCATC 0.393000 30 158 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36211256 36211256 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:36211256G>T ENST00000222270.7 + 3 1007 c.1007G>T c.(1006-1008)tGg>tTg p.W336L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Missense_Mutation_p.W336L|WBP7_ENST00000420124.1_Missense_Mutation_p.W336L NM_014727.1 NP_055542.1 GAGGAAAGTTGGCAGGATGTC 0.468000 16 12 9.16793e-09 9.25409e-09 1 1 0 DEAF1 10522 broad.mit.edu 37 11 679783 679783 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:679783G>A ENST00000382409.3 - 8 1515 c.1031C>T c.(1030-1032)tCg>tTg p.S344L DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L|DEAF1_ENST00000525904.1_5'UTR NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 344 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) CAGTGCCCCCGAGGTCGTGAT 0.652000 45 49 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86564657 86564657 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:86564657C>T ENST00000274376.6 + 1 953 c.389C>T c.(388-390)cCa>cTa p.P130L NM_002890.2 NP_002881.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 130 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ACTCTCGGGCCAGGCGGCGGT 0.647000 40 73 0 0 1 0 0 ARMS2 387715 broad.mit.edu 37 10 124214457 124214457 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:124214457C>T ENST00000528446.1 + 1 289 c.214C>T c.(214-216)Cac>Tac p.H72Y NM_001099667.1 NP_001093137.1 P0C7Q2 ARMS2_HUMAN age-related maculopathy susceptibility 2 72 retina homeostasis mitochondrion|photoreceptor inner segment ovary(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGCTAAAATCCACACTGAGCT 0.527000 12 29 0 0 1 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102769132 102769132 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:102769132G>A ENST00000417955.1 - 2 246 c.92C>T c.(91-93)tCc>tTc p.S31F NAPEPLD_ENST00000465647.1_Missense_Mutation_p.S31F|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.S31F|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.S31F|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.S104F Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 31 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 ACTTGCTCCGGAATTCCGTGC 0.388000 33 16 0 0 1 0 0 ECD 11319 broad.mit.edu 37 10 74914157 74914157 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:74914157G>A ENST00000372979.4 - 6 846 c.640C>T c.(640-642)Cca>Tca p.P214S ECD_ENST00000454759.1_Missense_Mutation_p.P214S|ECD_ENST00000430082.1_Missense_Mutation_p.P214S NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 214 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) ATGCCAGCTGGAAGGAAGCAG 0.473000 15 25 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108476006 108476006 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:108476006G>A ENST00000295755.6 - 1 225 c.27C>T c.(25-27)ctC>ctT p.L9L NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 9 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GGATTAGGATGAGAAGGAGGC 0.517000 15 52 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113350325 113350325 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:113350325C>A ENST00000458497.1 + 10 1095 c.816C>A c.(814-816)gaC>gaA p.D272E ALPK1_ENST00000177648.9_Missense_Mutation_p.D272E|ALPK1_ENST00000504176.2_Missense_Mutation_p.D194E NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 272 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AGGAGTTTGACCACCATTTGC 0.493000 84 191 3.86339e-31 3.94919e-31 1 1 0 MUC16 94025 broad.mit.edu 37 19 9049484 9049484 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9049484G>A ENST00000397910.4 - 5 32350 c.32147C>T c.(32146-32148)cCt>cTt p.P10716L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10718 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGCCCCAGGACTGGTGGC 0.478000 204 240 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73567295 73567295 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:73567295C>T ENST00000224721.6 + 58 8351 c.8346C>T c.(8344-8346)ttC>ttT p.F2782F CDH23_ENST00000398788.3_Silent_p.F537F|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2777 Cadherin 26. 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 NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AGAAGAACTTCCATCTGCAGC 0.622000 44 30 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71533542 71533542 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:71533542G>A ENST00000393330.2 - 7 762 c.210C>T c.(208-210)ggC>ggT p.G70G TSPAN8_ENST00000546561.1_Silent_p.G70G|TSPAN8_ENST00000247829.3_Silent_p.G70G P19075 TSN8_HUMAN tetraspanin 8 70 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) ATCCCAGGAAGCCCAGAATCA 0.458000 637 91 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75938336 75938336 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:75938336G>A ENST00000307428.7 + 2 957 c.745G>A c.(745-747)Gaa>Aaa p.E249K RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 249 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 GATCATGCAGGAAGTAGAACA 0.463000 14 54 0 0 1 0 0 CDK2AP2 10263 broad.mit.edu 37 11 67274939 67274939 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:67274939G>A ENST00000301488.3 - 3 758 c.210C>T c.(208-210)tcC>tcT p.S70S CDK2AP2_ENST00000531506.1_Silent_p.S70S NM_005851.3 NP_005842.1 O75956 CDKA2_HUMAN cyclin-dependent kinase 2 associated protein 2 70 lung(1) 1 AGGTGCTCTGGGAGCCCTGGG 0.612000 85 103 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151788952 151788952 + Silent SNP C C T rs138956153 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:151788952C>T ENST00000535741.1 - 22 3110 c.2637G>A c.(2635-2637)aaG>aaA p.K879K LRBA_ENST00000357115.3_Silent_p.K879K|LRBA_ENST00000507224.1_Silent_p.K879K|LRBA_ENST00000510413.1_Silent_p.K879K P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 879 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CATCTGAATTCTTAGGATTAA 0.403000 75 64 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172582223 172582223 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:172582223G>A ENST00000534253.2 + 8 775 c.607_splice c.e8+1 p.A203_splice DYNC1I2_ENST00000397119.3_Splice_Site_p.A203_splice|DYNC1I2_ENST00000409773.1_Splice_Site_p.A203_splice|DYNC1I2_ENST00000410079.3_Splice_Site_p.A195_splice|DYNC1I2_ENST00000508530.1_Splice_Site_p.A177_splice|DYNC1I2_ENST00000409453.1_Splice_Site_p.A203_splice|DYNC1I2_ENST00000409317.1_Splice_Site_p.A197_splice|DYNC1I2_ENST00000409197.1_Splice_Site_p.A177_splice|DYNC1I2_ENST00000358002.6_Splice_Site_p.A195_splice|DYNC1I2_ENST00000340296.4_Splice_Site_p.A177_splice|DYNC1I2_ENST00000263811.4_Splice_Site_p.A197_splice Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 203 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity p.A203S(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) TGATAGTAAAGGTATCTTAAG 0.294000 3 9 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90281316 90281316 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:90281316C>A ENST00000268130.7 + 16 1911 c.1810C>A c.(1810-1812)Caa>Aaa p.Q604K WDR93_ENST00000560294.1_Missense_Mutation_p.Q576K|WDR93_ENST00000444934.2_Missense_Mutation_p.Q321K NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 604 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TGCTGGAATCCAATATTCTGT 0.428000 175 310 7.67855e-60 7.92958e-60 1 1 0 NACA 4666 broad.mit.edu 37 12 57111289 57111289 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:57111289G>A ENST00000454682.1 - 3 4306 c.4025C>T c.(4024-4026)tCc>tTc p.S1342F NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCCTTTAGGGGAGGGAGGAGT 0.637000 T BCL6 NHL 31 6 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35010230 35010230 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:35010230C>T ENST00000231420.6 - 12 1413 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 405 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TGACTGTTTTCCTGTAGATTT 0.398000 67 63 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89245980 89245980 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:89245980C>T ENST00000289746.2 + 2 264 c.199C>T c.(199-201)Cag>Tag p.Q67* CDH15_ENST00000521087.1_3'UTR NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 67 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCCCCTGGTTCAGGTGAGCAG 0.692000 70 19 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49082620 49082620 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:49082620G>A ENST00000262013.7 - 12 1637 c.1429C>T c.(1429-1431)Cgg>Tgg p.R477W SPAG9_ENST00000357122.4_Missense_Mutation_p.R463W|SPAG9_ENST00000510283.1_Missense_Mutation_p.R320W|SPAG9_ENST00000505279.1_Missense_Mutation_p.R463W NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 477 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.R463W(1) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) GCTTCTGCCCGAGCTCTAGTG 0.343000 22 25 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99380380 99380380 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:99380380G>A ENST00000370188.3 - 5 1255 c.895C>T c.(895-897)Cga>Tga p.R299* LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R299* NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 299 integral to membrane hydrolase activity CTTTCTACTCGAGGAATGCTG 0.358000 54 30 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427751 27427751 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:27427751G>A ENST00000310574.3 - 8 1256 c.783C>T c.(781-783)ttC>ttT p.F261F SLC5A6_ENST00000408041.1_Silent_p.F261F NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 261 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AGACACCCCCGAAGGCCAAGG 0.582000 51 93 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66462575 66462575 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:66462575C>T ENST00000404260.3 + 29 7885 c.7577C>T c.(7576-7578)tCc>tTc p.S2526F MAST4_ENST00000403666.1_Missense_Mutation_p.S2334F|MAST4_ENST00000261569.7_Missense_Mutation_p.S2329F|MAST4_ENST00000405643.1_Missense_Mutation_p.S2344F|MAST4_ENST00000403625.2_Missense_Mutation_p.S2523F O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2526 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TCCCTGCCCTCCTTCCGGGTC 0.667000 10 12 0 0 1 0 0 LCAT 3931 broad.mit.edu 37 16 67974200 67974200 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:67974200G>A ENST00000264005.5 - 6 959 c.930C>T c.(928-930)caC>caT p.H310H NM_000229.1 NP_000220.1 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase 310 cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) CTTCCTCAAAGTGCAGGTCTG 0.572000 80 13 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135534100 135534100 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:135534100G>A ENST00000372159.3 - 6 1012 c.861C>T c.(859-861)atC>atT p.I287I DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000372153.1_Silent_p.I287I|DDX31_ENST00000310532.2_Silent_p.I287I|DDX31_ENST00000438527.3_Silent_p.I158I NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 287 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GGACCACAGGGATGCAATAGG 0.373000 50 10 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121458807 121458807 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:121458807G>A ENST00000260197.7 + 28 4022 c.3893G>A c.(3892-3894)gGa>gAa p.G1298E SORL1_ENST00000525532.1_Missense_Mutation_p.G242E|SORL1_ENST00000532694.1_Missense_Mutation_p.G144E|SORL1_ENST00000534286.1_Missense_Mutation_p.G208E NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1298 LDL-receptor class A 6. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTCTGTGACGGAATCATCCAG 0.572000 34 111 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237580362 237580362 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:237580362G>A ENST00000366574.2 + 11 1104 c.787G>A c.(787-789)Gaa>Aaa p.E263K RYR2_ENST00000360064.6_Missense_Mutation_p.E261K|RYR2_ENST00000542537.1_Missense_Mutation_p.E247K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 263 MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTTCATTATGAAGGTGGCGC 0.398000 12 33 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17271591 17271591 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:17271591C>G ENST00000544301.1 + 2 583 c.170C>G c.(169-171)cCg>cGg p.P57R VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.P57R|VIM_ENST00000485947.1_3'UTR NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 57 Head. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCCTCGTCCCCGGGCGGCGTG 0.731000 2 10 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76937974 76937974 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:76937974G>A ENST00000373344.5 - 9 2988 c.2774C>T c.(2773-2775)tCt>tTt p.S925F ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S887F NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 925 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTCTTTCCCAGAAAGCTTATC 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 68 13 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131519695 131519695 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:131519695C>T ENST00000423981.1 + 2 160 c.50C>T c.(49-51)tCc>tTc p.S17F AMER3_ENST00000321420.4_Missense_Mutation_p.S17F NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CTGCAGGTTTCCCACGAGAAA 0.617000 14 42 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169550948 169550948 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:169550948A>G ENST00000340806.6 + 4 1507 c.1507A>G c.(1507-1509)Aac>Gac p.N503D NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 503 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GGAAAACAGAAACAGGAATAT 0.413000 11 13 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96826965 96826965 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:96826965C>T ENST00000371270.3 - 3 575 c.481_splice c.e3+1 p.A161_splice CYP2C8_ENST00000539050.1_Splice_Site_p.A75_splice|CYP2C8_ENST00000535898.1_Splice_Site_p.A59_splice NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 161 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AGTCACCCACCCTTGGTTTTT 0.507000 62 65 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26428952 26428952 + RNA SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:26428952T>A ENST00000466808.2 + 0 1386 TTTAGCAGCATCTCATGACAT 0.428000 60 294 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73377129 73377129 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:73377129C>T ENST00000224721.6 + 10 1133 c.1128C>T c.(1126-1128)atC>atT p.I376I CDH23_ENST00000461841.3_Silent_p.I416I|CDH23_ENST00000398809.4_Silent_p.I371I|CDH23_ENST00000299366.7_Silent_p.I416I|CDH23_ENST00000398842.3_Silent_p.I371I NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 371 Cadherin 4. 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 NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CACTCTTCATCCAGGTGGTGG 0.582000 24 56 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70889118 70889118 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:70889118G>A ENST00000393567.2 - 73 12506 c.12356C>T c.(12355-12357)tCc>tTc p.S4119F NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4119 p.S4070F(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTCCTGGAAGGAAAAATCGAA 0.527000 48 11 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110478816 110478816 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:110478816G>A ENST00000378402.5 + 50 8527 c.8423G>A c.(8422-8424)gGa>gAa p.G2808E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2808 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGGCACAAAGGACATACCGTC 0.403000 HNSCC(38;0.096) 7 5 0 0 1 0 0 STOML3 161003 broad.mit.edu 37 13 39550839 39550839 + Missense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:39550839A>T ENST00000379631.4 - 2 492 c.148T>A c.(148-150)Tgc>Agc p.C50S STOML3_ENST00000423210.1_Missense_Mutation_p.C41S NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 50 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) ACCTTCAAGCACATCCATATG 0.438000 17 28 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112022406 112022406 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:112022406C>T ENST00000371959.3 - 10 2975 c.2976G>A c.(2974-2976)gcG>gcA p.A992A AMOT_ENST00000524145.1_Silent_p.A992A|AMOT_ENST00000371962.1_Silent_p.A760A|AMOT_ENST00000304758.1_Silent_p.A583A NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 992 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 AAGCCTGAGCCGCTGCTGGAG 0.622000 20 2 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179689405 179689405 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:179689405C>T ENST00000467460.1 - 2 400 c.70G>A c.(70-72)Gaa>Aaa p.E24K PEX5L_ENST00000465751.1_Intron|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000485199.1_Missense_Mutation_p.E24K|PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000263962.8_Intron|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000468741.1_5'UTR NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 24 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) acaattatttcgaggtcttca 0.313000 10 14 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000351 46000351 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:46000351G>A ENST00000400372.1 - 1 130 c.105C>T c.(103-105)ccC>ccT p.P35P TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 35 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GGGTCAGGCAGGGGGCGGTGC 0.692000 78 137 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186954120 186954120 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:186954120C>T ENST00000296280.6 - 11 1764 c.1539G>A c.(1537-1539)aaG>aaA p.K513K MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.K400K NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 511 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TGACATGCTCCTTGGAGACTG 0.597000 70 68 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151121946 151121946 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:151121946C>T ENST00000367328.1 + 7 1033 c.721C>T c.(721-723)Ctg>Ttg p.L241L PLEKHG1_ENST00000358517.2_Silent_p.L241L NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 241 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CTCGCTGCCTCTGGGGTCCTA 0.502000 69 43 0 0 1 0 0 SYVN1 84447 broad.mit.edu 37 11 64900543 64900543 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:64900543G>A ENST00000526060.1 - 4 420 c.228C>T c.(226-228)caC>caT p.H76H SYVN1_ENST00000307289.6_Silent_p.H76H|SYVN1_ENST00000377190.3_Silent_p.H76H|SYVN1_ENST00000294256.8_Silent_p.H76H Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 76 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GTTCCAGAAGGTGCTGGGGGC 0.552000 47 72 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039340 11039340 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:11039340C>T ENST00000470054.1 - 0 863 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAATTTGATCTTCGCCACAA 0.378000 20 247 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142458565 142458565 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:142458565C>T ENST00000486171.1 + 2 217 c.200_splice c.e2+1 p.S67_splice PRSS1_ENST00000311737.7_Splice_Site_p.S67_splice P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 67 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TGCTACAAGTCGTAAGTGTGG 0.582000 33 69 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166626759 166626759 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:166626759T>A ENST00000392701.3 - 2 1227 c.452A>T c.(451-453)aAt>aTt p.N151I NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 151 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 TGCGAAAGCATTAAAGCAGTG 0.403000 41 60 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010864 59010864 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:59010864G>A ENST00000263093.2 - 7 1771 c.1662C>T c.(1660-1662)acC>acT p.T554T SLC27A5_ENST00000601355.1_Silent_p.T470T NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CGGACCGGAAGGTGTCCCCGA 0.657000 31 41 0 0 1 0 0 MMD 23531 broad.mit.edu 37 17 53471726 53471726 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:53471726C>T ENST00000262065.3 - 7 982 c.686G>A c.(685-687)cGa>cAa p.R229Q NM_012329.2 NP_036461.2 Q15546 PAQRB_HUMAN monocyte to macrophage differentiation-associated 229 cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 CGTAGGACTTCGGTAAAGGTA 0.463000 122 173 0 0 1 0 0 TPT1 7178 broad.mit.edu 37 13 45914166 45914166 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:45914166C>T ENST00000379056.1 - 2 324 c.154G>A c.(154-156)Gaa>Aaa p.E52K TPT1_ENST00000379055.1_Missense_Mutation_p.E52K|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000530705.1_Missense_Mutation_p.E86K|TPT1_ENST00000309246.5_Missense_Mutation_p.E86K|TPT1_ENST00000379060.4_Missense_Mutation_p.E74K P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 86 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding lung(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) TTGTAGGCTTCTTTTGTGAAA 0.433000 46 85 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1828258 1828258 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:1828258G>C ENST00000518288.1 + 10 1126 c.963G>C c.(961-963)aaG>aaC p.K321N ARHGEF10_ENST00000520359.1_Intron|ARHGEF10_ENST00000398560.1_Intron|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K296N|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K321N|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K321N O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 321 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) ATGAGAAAAAGATGAGAGATT 0.493000 27 73 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137653787 137653787 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:137653787C>T ENST00000371817.3 + 19 2366 c.1952C>T c.(1951-1953)tCc>tTc p.S651F NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 651 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCTGGTCCTTCCGGCCCACCA 0.577000 42 84 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810973 123810973 + Missense_Mutation SNP C C T rs138187932 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:123810973C>T ENST00000307033.2 + 1 724 c.650C>T c.(649-651)tCg>tTg p.S217L NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 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;0.0399) CTTCTGGGATCGTACACAGCA 0.517000 121 184 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135743399 135743399 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:135743399C>T ENST00000375845.3 - 7 3073 c.3043G>A c.(3043-3045)Ggc>Agc p.G1015S MAP3K19_ENST00000392915.1_Missense_Mutation_p.G1032S|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G902S|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GTCTCTCTGCCCATTTCTTTT 0.403000 37 74 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88705380 88705380 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:88705380G>A ENST00000372027.4 - 2 304 c.231C>T c.(229-231)ttC>ttT p.F77F NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 77 EMI. extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 AGTGGATGAGGAATTTCTCTG 0.552000 16 30 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35790527 35790527 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:35790527G>A ENST00000361922.4 + 5 636 c.486G>A c.(484-486)ccG>ccA p.P162P MAG_ENST00000597035.1_3'UTR|MAG_ENST00000392213.3_Silent_p.P162P|MAG_ENST00000537831.2_Silent_p.P137P NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 162 Ig-like C2-type 1. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GCATGGTGCCGGACAACTGCC 0.701000 21 37 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75980951 75980951 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:75980951G>A ENST00000308508.5 - 3 2547 c.2455C>T c.(2455-2457)Cca>Tca p.P819S NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 819 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TGGAAGGTTGGGGGGCTTGGG 0.612000 78 124 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077809 9077809 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9077809C>T ENST00000397910.4 - 3 9840 c.9637G>A c.(9637-9639)Gaa>Aaa p.E3213K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3214 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGCTGGGTTCCTTGGAGCTC 0.478000 104 118 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884600 228884600 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:228884600G>A ENST00000392056.3 - 7 1016 c.970C>T c.(970-972)Cat>Tat p.H324Y SPHKAP_ENST00000344657.5_Missense_Mutation_p.H324Y NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 324 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTTCTGAATGATAATAATGT 0.413000 100 102 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 107016346 107016346 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:107016346G>A ENST00000369066.3 + 20 5564 c.e20-1 AIM1_ENST00000535438.1_Splice_Site NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CTTTCTTTTAGGGGGCACACA 0.393000 65 52 0 0 1 0 0 CUEDC1 404093 broad.mit.edu 37 17 55950091 55950091 + Silent SNP G G A rs148211596 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:55950091G>A ENST00000577830.1 - 5 1130 c.717C>T c.(715-717)ttC>ttT p.F239F CUEDC1_ENST00000577840.1_Silent_p.F102F|CUEDC1_ENST00000360238.2_Silent_p.F239F|CUEDC1_ENST00000407144.2_Silent_p.F239F NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 239 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 CGTTCTGCAGGAAAAGCGCGA 0.637000 90 128 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266729 1266729 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:1266729C>T ENST00000447027.1 + 31 8686 c.8628C>T c.(8626-8628)ccC>ccT p.P2876P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P2873P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2873 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCTGTGAGCCCCAGTGTGCCT 0.677000 97 126 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95504028 95504028 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:95504028G>A ENST00000297591.5 - 22 4993 c.4918C>T c.(4918-4920)Cgt>Tgt p.R1640C KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1640 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTTCTCTGACGAAAAATATCA 0.453000 17 71 0 0 1 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185270669 185270669 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:185270669A>G ENST00000367498.3 - 9 1414 c.792T>C c.(790-792)caT>caC p.H264H IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.H46H NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 264 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 TTATCTGCTTATGGCCATTCT 0.423000 17 78 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62149380 62149380 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:62149380G>A ENST00000433197.2 - 6 534 c.439C>T c.(439-441)Ctc>Ttc p.L147F ERN1_ENST00000577567.1_5'UTR NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 147 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GATGGGCAGAGACTATCTGCA 0.463000 11 7 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144244968 144244968 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:144244968G>A ENST00000295095.6 + 9 897 c.730G>A c.(730-732)Gat>Aat p.D244N RP11-570L15.2_ENST00000546678.1_RNA NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 244 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) CAGTGCTTCCGATACAAGCGA 0.338000 52 61 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27320720 27320720 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:27320720C>T ENST00000407991.1 - 6 1848 c.1240G>A c.(1240-1242)Gag>Aag p.E414K CHRNA2_ENST00000520933.2_Missense_Mutation_p.E414K|CHRNA2_ENST00000240132.2_Missense_Mutation_p.E399K NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 414 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) ACCACCACCTCCCTCTCCTCG 0.667000 47 124 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115091157 115091157 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:115091157C>T ENST00000361283.1 + 3 2149 c.1840C>T c.(1840-1842)Cct>Tct p.P614S NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 614 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding TACTTTATTTCCTTCCTCAAA 0.358000 75 95 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090600 115090600 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:115090600C>T ENST00000361283.1 + 3 1592 c.1283C>T c.(1282-1284)cCa>cTa p.P428L NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 428 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding CCACTATCCCCAGAGATCCGT 0.547000 70 77 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688274 60688274 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:60688274G>A ENST00000335712.6 - 4 2000 c.1773C>T c.(1771-1773)gcC>gcT p.A591A BCL11A_ENST00000358510.4_Silent_p.A557A|BCL11A_ENST00000356842.4_Silent_p.A591A|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.A557A|BCL11A_ENST00000537768.1_Silent_p.A260A NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 591 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CCGACTCGCCGGCCACCGAGT 0.682000 T IGH@ B-CLL 46 68 0 0 1 0 0 CYB5R4 51167 broad.mit.edu 37 6 84630843 84630843 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:84630843T>C ENST00000369681.4 + 8 747 c.607T>C c.(607-609)Tcc>Ccc p.S203P NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 203 CS. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) TCAGAATGATTCCTTTAGAGC 0.264000 9 16 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18803458 18803458 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:18803458C>T ENST00000377319.3 + 6 533 c.525_splice c.e6+1 p.S175_splice CACNB2_ENST00000324631.7_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000377315.4_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377328.1_Intron Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 268 SH3. axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGCAGAAATCGGTAAGTTTA 0.398000 18 38 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161524701 161524701 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:161524701A>C ENST00000356592.3 + 4 845 c.385A>C c.(385-387)Aac>Cac p.N129H GABRG2_ENST00000414552.2_Missense_Mutation_p.N129H|GABRG2_ENST00000393933.4_Missense_Mutation_p.N34H|GABRG2_ENST00000361925.4_Missense_Mutation_p.N129H NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 129 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TTTGAAATTTAACAGCACCAT 0.353000 48 44 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44102451 44102451 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:44102451G>C ENST00000259746.9 + 2 313 c.130G>C c.(130-132)Gtg>Ctg p.V44L TMEM63B_ENST00000323267.6_Missense_Mutation_p.V44L Q5T3F8 TM63B_HUMAN transmembrane protein 63B 44 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CGTCCCCACCGTGCTGGCTCT 0.607000 8 191 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181765849 181765849 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:181765849G>A ENST00000526775.1 + 45 6233 c.6068G>A c.(6067-6069)cGa>cAa p.R2023Q CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2066Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2085Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2036Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1649Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2042Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1974Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2085 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAGCGGGGACGATCAAAAGAG 0.557000 30 35 0 0 1 0 0 LSM10 84967 broad.mit.edu 37 1 36859378 36859378 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:36859378G>A ENST00000315732.2 - 2 502 c.353C>T c.(352-354)cCc>cTc p.P118L LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 118 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) GTTTTTTGGGGGAAATTCCCA 0.577000 36 148 0 0 1 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172247 21172247 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:21172247G>A ENST00000421593.2 + 2 151 c.151G>A c.(151-153)Gga>Aga p.G51R LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 GAAGTTAATTGGAATTGGTTG 0.328000 26 44 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138430021 138430021 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:138430021C>T ENST00000310018.2 - 14 1607 c.1325G>A c.(1324-1326)tGg>tAg p.W442* ATP6V0A4_ENST00000393054.1_Nonsense_Mutation_p.W442*|ATP6V0A4_ENST00000353492.4_Nonsense_Mutation_p.W442* NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 442 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GAAGGTGTTCCAAATCTGGCC 0.512000 49 110 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50416925 50416925 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:50416925C>T ENST00000435965.1 - 11 1263 c.1090G>A c.(1090-1092)Gtg>Atg p.V364M CACNA2D2_ENST00000479441.1_Missense_Mutation_p.V364M|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V364M|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V364M|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V364M|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V364M|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V295M|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V364M Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 364 VWFA. energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CCCTTGGCCACCATGCCCTGC 0.597000 45 55 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43584211 43584211 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:43584211C>T ENST00000452443.2 - 4 528 c.524G>A c.(523-525)aGa>aAa p.R175K NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 175 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GGTGATGAATCTTTCATGACC 0.502000 24 90 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57417841 57417841 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:57417841G>A ENST00000543257.1 - 6 956 c.390C>T c.(388-390)ttC>ttT p.F130F C8B_ENST00000535057.1_Silent_p.F120F|C8B_ENST00000371237.4_Silent_p.F182F NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 182 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 AACTGTTTGTGAACAAATTTA 0.443000 151 88 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120580490 120580490 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:120580490G>A ENST00000300648.6 - 44 5662 c.5650C>T c.(5650-5652)Cgg>Tgg p.R1884W NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1884 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCAACACCCGGTTCCGCCGC 0.622000 55 48 0 0 1 0 0 RP11-445N18.7 0 broad.mit.edu 37 10 45648336 45648336 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:45648336C>T ENST00000427229.2 + 0 1725 GAAGAATTGTCTGAAAGAAAA 0.353000 8 3 0 0 1 0 0 YPEL3 83719 broad.mit.edu 37 16 30106190 30106190 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:30106190C>T ENST00000562641.1 - 3 833 c.304G>A c.(304-306)Gag>Aag p.E102K YPEL3_ENST00000563788.1_Missense_Mutation_p.E64K|YPEL3_ENST00000566595.1_Missense_Mutation_p.E64K|YPEL3_ENST00000398838.4_Missense_Mutation_p.E64K|YPEL3_ENST00000398841.1_Missense_Mutation_p.E102K|YPEL3_ENST00000566134.1_Intron|YPEL3_ENST00000565479.1_5'UTR P61236 YPEL3_HUMAN yippee-like 3 (Drosophila) 64 nucleolus endometrium(1)|lung(2) 3 AGCACCCGCTCCTCGGCTGGC 0.637000 100 15 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16045048 16045048 + Silent SNP C C T rs140733161 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:16045048C>T ENST00000326742.7 - 1 172 c.171G>A c.(169-171)caG>caA p.Q57Q CYP4F11_ENST00000402119.3_Silent_p.Q57Q|CYP4F11_ENST00000248041.7_Silent_p.Q57Q Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 57 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 AAAACCAGTTCTGTTTCGGGG 0.612000 53 76 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119735494 119735494 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:119735494G>A ENST00000541757.1 + 9 895 c.515G>A c.(514-516)gGa>gAa p.G172E MARCO_ENST00000327097.4_Missense_Mutation_p.G250E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 250 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGAGAGAAAGGAGACCTGGGT 0.597000 5 11 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18916692 18916692 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:18916692G>A ENST00000317977.6 + 9 1322 c.751G>A c.(751-753)Gag>Aag p.E251K SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.E334K|SLC5A10_ENST00000395642.1_Missense_Mutation_p.E251K|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 327 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 TGTCTATGAGGAGAGACACCA 0.627000 24 71 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3739121 3739121 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:3739121C>T ENST00000541714.2 + 13 2082 c.1620C>T c.(1618-1620)ccC>ccT p.P540P TJP3_ENST00000539908.2_Silent_p.P504P|TJP3_ENST00000587686.1_Silent_p.P559P|TJP3_ENST00000589378.1_Silent_p.P549P|TJP3_ENST00000262968.9_Silent_p.P573P|TJP3_ENST00000382008.3_Silent_p.P554P NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 554 SH3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCATCATTCCCAACCAGAGCA 0.672000 117 130 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105187408 105187408 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:105187408C>T ENST00000257700.2 + 5 798 c.567C>T c.(565-567)tcC>tcT p.S189S NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 189 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGGCAGCCTCCACTCTAGTGT 0.368000 58 42 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139611102 139611102 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:139611102C>T ENST00000303045.6 - 61 4671 c.4225G>A c.(4225-4227)Gga>Aga p.G1409R COL22A1_ENST00000435777.1_Missense_Mutation_p.G1389R|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1409 Collagen-like 14.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGGCCTTTTCCACCAGGAGGT 0.577000 HNSCC(7;0.00092) 8 44 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151894440 151894440 + Silent SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:151894440T>A ENST00000367290.5 + 6 995 c.906T>A c.(904-906)tcT>tcA p.S302S CCDC170_ENST00000239374.7_Silent_p.S302S Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 302 AGAAAAGCTCTTCTGAGTTGG 0.498000 28 52 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144662304 144662304 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:144662304C>T ENST00000532741.1 - 7 2161 c.1933G>A c.(1933-1935)Ggg>Agg p.G645R EEF1D_ENST00000532400.1_Silent_p.G44G|EEF1D_ENST00000531621.1_Missense_Mutation_p.G186R|EEF1D_ENST00000524624.1_Missense_Mutation_p.G205R|EEF1D_ENST00000528610.1_Missense_Mutation_p.G205R|EEF1D_ENST00000442189.2_Missense_Mutation_p.G595R|EEF1D_ENST00000526838.1_Missense_Mutation_p.G210R|EEF1D_ENST00000395119.3_Missense_Mutation_p.G229R|EEF1D_ENST00000423316.2_Missense_Mutation_p.G595R|EEF1D_ENST00000529272.1_Missense_Mutation_p.G229R|EEF1D_ENST00000419152.2_Missense_Mutation_p.G229R|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000317198.6_Missense_Mutation_p.G229R P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 229 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) TTGGAAGCCCCCCAGACCAGC 0.617000 22 50 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462012 50462012 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:50462012G>A ENST00000447370.2 - 7 1341 c.1251C>T c.(1249-1251)gaC>gaT p.D417D SIGLEC11_ENST00000426971.2_Silent_p.D417D NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 417 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GGACCCCGGGGTCTGAGGGCT 0.677000 122 143 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579545 7579545 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:7579545C>T ENST00000420246.2 - 4 274 c.142G>A c.(142-144)Gac>Aac p.D48N TP53_ENST00000455263.2_Missense_Mutation_p.D48N|TP53_ENST00000413465.2_Missense_Mutation_p.D48N|TP53_ENST00000445888.2_Missense_Mutation_p.D48N|TP53_ENST00000269305.4_Missense_Mutation_p.D48N|TP53_ENST00000359597.4_Missense_Mutation_p.D48N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 48 Interaction with HRMT1L2. D -> G (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.S46_D49delSPDD(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCAATATCGTCCGGGGACAGC 0.592000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 347 236 0 0 1 0 0 EPHX1 2052 broad.mit.edu 37 1 226030159 226030159 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:226030159G>A ENST00000366837.4 + 7 1220 c.1024G>A c.(1024-1026)Gat>Aat p.D342N RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D342N NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 342 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) ATACCTGGAGGATGGAGGCCT 0.572000 36 93 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107450509 107450509 + Missense_Mutation SNP G G A rs138821621 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:107450509G>A ENST00000409382.3 - 3 1647 c.1037C>T c.(1036-1038)tCg>tTg p.S346L ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 346 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.S346L(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TCTTACCTGCGAATTAATGAT 0.393000 80 128 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119886732 119886732 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:119886732G>A ENST00000464295.1 - 10 2037 c.1592C>T c.(1591-1593)tCa>tTa p.S531L GPR156_ENST00000315843.3_Missense_Mutation_p.S531L|GPR156_ENST00000461057.1_Missense_Mutation_p.S527L Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 531 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GGGCTCCTCTGAGTTCTCCAG 0.582000 68 171 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65366005 65366005 + Silent SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:65366005A>T ENST00000309100.3 - 10 2786 c.2301T>A c.(2299-2301)ccT>ccA p.P767P MAP3K11_ENST00000530153.1_Silent_p.P510P|MAP3K11_ENST00000532507.1_Silent_p.P183P NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 767 Pro-rich. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GCGAGGGCCGAGGTCGGCTGA 0.682000 22 29 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053059 11053059 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:11053059G>A ENST00000295082.1 + 1 997 c.507G>A c.(505-507)tgG>tgA p.W169* NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 169 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) AGTGCGTCTGGAAGTTCCTGG 0.687000 33 28 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7725482 7725482 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:7725482A>G ENST00000507866.2 + 19 2592 c.2483A>G c.(2482-2484)tAc>tGc p.Y828C SORCS2_ENST00000329016.9_Missense_Mutation_p.Y656C NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 828 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 AAGGCCATGTACGTGAACCTT 0.607000 153 236 0 0 1 0 0 CORO1C 23603 broad.mit.edu 37 12 109042520 109042520 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:109042520G>A ENST00000261401.3 - 10 1338 c.1166C>T c.(1165-1167)tCc>tTc p.S389F CORO1C_ENST00000549772.1_Missense_Mutation_p.S395F|CORO1C_ENST00000420959.2_Missense_Mutation_p.S442F|CORO1C_ENST00000421578.2_Missense_Mutation_p.S284F|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000541050.1_Missense_Mutation_p.S389F NM_001105237.2|NM_001276471.1|NM_014325.2 NP_001098707.1|NP_001263400.1|NP_055140.1 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C 389 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 GTGCTTCAAGGAGATGAGGAT 0.527000 33 4 0 0 1 0 0 CMPK2 129607 broad.mit.edu 37 2 6991588 6991588 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:6991588G>A ENST00000256722.5 - 4 1218 c.1219C>T c.(1219-1221)Cgt>Tgt p.R407C CMPK2_ENST00000404168.1_Missense_Mutation_p.R407C|CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR NM_207315.3 NP_997198.2 Q5EBM0 CMPK2_HUMAN cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 407 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TACTTTTGACGAAACACACTG 0.542000 31 51 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181762858 181762858 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:181762858C>T ENST00000357570.5 + 45 6121 c.5809C>T c.(5809-5811)Cct>Tct p.P1937S CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1967S|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1986S|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000358338.5_Intron Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1986 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CATCTACCTTCCTTCGGACAC 0.507000 13 21 0 0 1 0 0 ZNF589 51385 broad.mit.edu 37 3 48309809 48309809 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:48309809C>T ENST00000354698.3 + 4 700 c.628C>T c.(628-630)Cca>Tca p.P210S ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron NM_016089.2 NP_057173.2 Q86UQ0 ZN589_HUMAN zinc finger protein 589 210 regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCAGAAACCCCAGGGTTTGG 0.478000 13 86 0 0 1 0 0 ERCC1 2067 broad.mit.edu 37 19 45924575 45924575 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:45924575G>A ENST00000300853.3 - 3 773 c.182C>T c.(181-183)gCc>gTc p.A61V ERCC1_ENST00000013807.5_Missense_Mutation_p.A61V|ERCC1_ENST00000589165.1_Missense_Mutation_p.A61V|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Missense_Mutation_p.A61V|ERCC1_ENST00000340192.7_Missense_Mutation_p.A61V NM_001983.3 NP_001974.1 P07992 ERCC1_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 61 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1) 15 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) GGCATATTCGGCGTAGGTCTG 0.637000 Nucleotide excision repair (NER) 52 81 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22924275 22924275 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:22924275G>A ENST00000514473.2 - 0 225 TRDJ4_ENST00000390474.1_RNA GAACCTATCTGGAGGTACAAC 0.418000 16 34 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196198710 196198710 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:196198710A>G ENST00000318037.3 - 6 2290 c.1696T>C c.(1696-1698)Ttt>Ctt p.F566L NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 566 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|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;0.00348) CATCTCTGAAACATCTGAAAA 0.403000 15 73 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2090052 2090052 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:2090052C>T ENST00000544865.1 - 12 3477 c.2967G>A c.(2965-2967)aaG>aaA p.K989K SMG6_ENST00000354901.4_Silent_p.K112K|SMG6_ENST00000536871.2_Silent_p.K112K|SMG6_ENST00000263073.5_Silent_p.K1020K Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 1020 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GGAGCAGCTCCTTCAGGTCCG 0.582000 15 44 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154727768 154727768 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:154727768C>T ENST00000607772.1 - 13 1932 c.1388G>A c.(1387-1389)cGg>cAg p.R463Q CNKSR3_ENST00000433165.2_Missense_Mutation_p.R288Q|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R383Q NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 463 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) ACTGAAATACCGGCAAAGGGC 0.572000 11 13 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154146613 154146613 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:154146613A>G ENST00000389740.2 - 1 891 c.792T>C c.(790-792)tcT>tcC p.S264S NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 264 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGCATCCCCCAGAGCGCCGCA 0.657000 47 31 0 0 1 0 0 EDC3 80153 broad.mit.edu 37 15 74963887 74963887 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:74963887G>A ENST00000315127.4 - 3 574 c.393C>T c.(391-393)tcC>tcT p.S131S EDC3_ENST00000568176.1_Silent_p.S131S|EDC3_ENST00000426797.3_Silent_p.S131S NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 131 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GCTGCTGCGGGGAAACGGCAA 0.522000 79 96 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76657064 76657064 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:76657064C>T ENST00000369950.3 - 14 2200 c.2011G>A c.(2011-2013)Gaa>Aaa p.E671K IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 671 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CTGTCTATTTCCAGATGGAGT 0.418000 44 30 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5144378 5144378 + Silent SNP C C T rs149127752 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:5144378C>T ENST00000159111.4 + 20 3074 c.2856C>T c.(2854-2856)ttC>ttT p.F952F KDM4B_ENST00000536461.1_Silent_p.F986F NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 952 Tudor 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AAGTGAACTTCGACGATGGCT 0.637000 13 18 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94032105 94032105 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:94032105G>A ENST00000282020.4 + 4 993 c.e4+1 GRID2_ENST00000510992.1_Splice_Site|GRID2_ENST00000505687.1_Splice_Site NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CATTACTGAGGTAAGTGAAAA 0.413000 33 30 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45671560 45671560 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:45671560C>T ENST00000270172.3 - 9 1198 c.715G>A c.(715-717)Gat>Aat p.D239N DNMT3L_ENST00000418993.1_Missense_Mutation_p.D239N NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 239 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TACACAAGATCGAAGGGTCCC 0.652000 46 35 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99306852 99306852 + Silent SNP C C T rs115129932 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:99306852C>T ENST00000336374.2 - 11 1061 c.1059G>A c.(1057-1059)ttG>ttA p.L353L NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 353 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.L353>?(1) autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CAAGATACTCCAACTGTAGCA 0.378000 13 38 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941932 144941932 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:144941932G>A ENST00000525985.1 - 2 5561 c.5490C>T c.(5488-5490)atC>atT p.I1830I P58107 EPIPL_HUMAN epiplakin 1 1830 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCGTGGTGATGATTTCCAGCA 0.552000 176 116 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186953727 186953727 + Silent SNP C C T rs143503196 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:186953727C>T ENST00000296280.6 - 11 2157 c.1932G>A c.(1930-1932)acG>acA p.T644T MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.T531T NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 626 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ACATGTTCTCCGTGACGCTGT 0.547000 29 96 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139163495 139163495 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:139163495C>T ENST00000395297.1 - 13 3393 c.3223G>A c.(3223-3225)Gga>Aga p.G1075R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1075 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GAAACAACTCCAAAGGATCCC 0.512000 HNSCC(54;0.14) 16 54 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090459 238090459 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:238090459G>A ENST00000450451.1 + 0 1965 NR_027247.2 AGGCCTGCCCGAACCCCAAGG 0.577000 29 27 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634218 70634218 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:70634218C>T ENST00000381269.2 - 2 1675 c.922G>A c.(922-924)Gaa>Aaa p.E308K SLC8A3_ENST00000357887.3_Missense_Mutation_p.E308K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E308K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E308K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E308K NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 308 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCATCCACTTCCTTCCCTTCC 0.493000 29 28 0 0 1 0 0 SLC2A1 6513 broad.mit.edu 37 1 43396734 43396734 + Silent SNP G G A rs147319894 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:43396734G>A ENST00000426263.3 - 3 436 c.258C>T c.(256-258)ttC>ttT p.F86F SLC2A1_ENST00000372500.3_Silent_p.F86F|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Silent_p.F86F NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 86 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) AGCGGTTAACGAAAAGGCCCA 0.622000 OREG0013425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 45 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106526678 106526678 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:106526678T>G ENST00000359195.3 + 10 3281 c.2971T>G c.(2971-2973)Ttc>Gtc p.F991V PIK3CG_ENST00000440650.2_Missense_Mutation_p.F991V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.F991V NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 991 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AACCCCTGACTTCCTCTTTGT 0.438000 15 42 0 0 1 0 0 CORO1B 57175 broad.mit.edu 37 11 67208889 67208889 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:67208889C>A ENST00000393893.1 - 6 654 c.551G>T c.(550-552)tGg>tTg p.W184L CORO1B_ENST00000545016.1_3'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.W184L|CORO1B_ENST00000453768.2_Missense_Mutation_p.W184L NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 184 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) ATTGTGGTTCCAGCTGACATT 0.602000 83 112 6.65942e-36 6.82029e-36 1 1 0 MYL6 4637 broad.mit.edu 37 12 56552403 56552403 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:56552403G>C ENST00000536128.1 + 1 258 c.218G>C c.(217-219)gGg>gCg p.G73A MYL6_ENST00000549566.1_Missense_Mutation_p.G73A|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000547408.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000348108.4_Intron P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 0 axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) AGAGTTTGTGGGGCTGGGATA 0.567000 137 40 0 0 1 0 0 CABP5 56344 broad.mit.edu 37 19 48542572 48542572 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:48542572C>T ENST00000293255.2 - 4 371 c.241G>A c.(241-243)Ggt>Agt p.G81S NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 81 EF-hand 2. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) ACACGGCCACCCACTGAGGAA 0.537000 57 80 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149191334 149191334 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:149191334G>A ENST00000461958.2 - 2 481 c.285C>T c.(283-285)atC>atT p.I95I ZNF746_ENST00000340622.3_Silent_p.I95I|ZNF746_ENST00000458143.2_Silent_p.I95I Q6NUN9 ZN746_HUMAN zinc finger protein 746 95 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GCAGCCGCAGGATCCAGAAGT 0.677000 64 187 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164776765 164776765 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:164776765G>A ENST00000264382.3 - 12 1446 c.1384C>T c.(1384-1386)Cca>Tca p.P462S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 462 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCAATAATTGGTGTACTTCCA 0.368000 HNSCC(35;0.089) 12 16 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42037793 42037793 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:42037793C>T ENST00000220809.4 - 11 1445 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Missense_Mutation_p.E308K|PLAT_ENST00000429710.2_Missense_Mutation_p.E271K|PLAT_ENST00000352041.3_Missense_Mutation_p.E351K|PLAT_ENST00000429089.2_Missense_Mutation_p.E397K|PLAT_ENST00000519510.1_Missense_Mutation_p.E334K NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 397 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCATCGAATTCCTTATGGACA 0.498000 88 250 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53684914 53684914 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:53684914A>G ENST00000288139.3 + 4 710 c.592A>G c.(592-594)Aat>Gat p.N198D CACNA1D_ENST00000350061.5_Missense_Mutation_p.N198D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.N198D NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 198 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GAATGGATGGAATTTACTGGA 0.378000 43 70 0 0 1 0 0 SLC25A34 284723 broad.mit.edu 37 1 16063163 16063163 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:16063163C>T ENST00000294454.5 + 1 264 c.183C>T c.(181-183)gcC>gcT p.A61A RP11-288I21.1_ENST00000453804.1_RNA NM_207348.1 NP_997231.1 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 61 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCTGTGGCCCGAGCAGACG 0.657000 18 13 0 0 1 0 0 OXER1 165140 broad.mit.edu 37 2 42991193 42991193 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:42991193G>A ENST00000378661.2 - 1 208 c.127C>T c.(127-129)Cat>Tat p.H43Y NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 43 regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 CTCAGGTTATGAAGTTCCATG 0.572000 58 76 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52538277 52538277 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:52538277G>A ENST00000594154.1 - 5 867 c.655C>T c.(655-657)Cag>Tag p.Q219* ZNF432_ENST00000221315.5_Nonsense_Mutation_p.Q219* O94892 ZN432_HUMAN zinc finger protein 432 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCAGTGAGCTGAGACTTCTTG 0.398000 61 83 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16527375 16527375 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:16527375G>A ENST00000311331.7 - 6 916 c.825C>T c.(823-825)ccC>ccT p.P275P NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TACATTTGTAGGGTTTTTCCT 0.343000 23 67 0 0 1 0 0 TRIM63 84676 broad.mit.edu 37 1 26383786 26383786 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:26383786C>T ENST00000374272.3 - 7 1025 c.887G>A c.(886-888)gGg>gAg p.G296E NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 296 COS. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CTCTGTCTTCCCCAGCTGGCA 0.537000 25 82 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86564656 86564656 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:86564656C>T ENST00000274376.6 + 1 952 c.388C>T c.(388-390)Cca>Tca p.P130S NM_002890.2 NP_002881.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 130 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GACTCTCGGGCCAGGCGGCGG 0.647000 40 72 0 0 1 0 0 CCNB2 9133 broad.mit.edu 37 15 59406711 59406711 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:59406711C>T ENST00000288207.2 + 4 527 c.336C>T c.(334-336)gcC>gcT p.A112A CCNB2_ENST00000559622.1_Silent_p.A31A NM_004701.3 NP_004692.1 O95067 CCNB2_HUMAN cyclin B2 112 cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus protein kinase binding kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 TTTCTGATGCCTTGCTCTGCA 0.473000 37 62 0 0 1 0 0 TRDV1 28518 broad.mit.edu 37 14 22564757 22564757 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:22564757C>T ENST00000390452.2 + 0 226 TTTCCTTATTCGCCAGGGTTC 0.423000 46 30 0 0 1 0 0 WNT10A 80326 broad.mit.edu 37 2 219747107 219747107 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:219747107G>A ENST00000258411.3 + 2 971 c.338G>A c.(337-339)cGc>cAc p.R113H NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 113 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGAGACTCGCAACAAGATC 0.577000 40 192 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89416215 89416215 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:89416215C>T ENST00000439576.2 + 16 7666 c.7292C>T c.(7291-7293)cCc>cTc p.P2431L ACAN_ENST00000559004.1_Missense_Mutation_p.P2393L|ACAN_ENST00000352105.7_Missense_Mutation_p.P2393L|ACAN_ENST00000561243.1_Missense_Mutation_p.P2431L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2431 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AATGATGTTCCCTGCAATTAC 0.557000 27 39 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128690271 128690271 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:128690271C>T ENST00000265068.5 - 8 1194 c.1027G>A c.(1027-1029)Ggg>Agg p.G343R KIAA1257_ENST00000511438.1_Missense_Mutation_p.G343R|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G231R NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 343 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 GAATCTTTCCCTTTAACTGTG 0.483000 8 4 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47274573 47274573 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:47274573C>T ENST00000337137.4 + 5 828 c.662C>T c.(661-663)tCc>tTc p.S221F TBC1D22A_ENST00000355704.3_Missense_Mutation_p.S143F|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.S174F|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.S162F|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.S174F NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 221 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) TTGAGCTGGTCCGGAATCCCT 0.507000 66 41 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68784789 68784789 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:68784789G>A ENST00000508048.1 - 8 886 c.851C>T c.(850-852)tCg>tTg p.S284L TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.S285L|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.S288L|RP11-453E17.1_ENST00000500538.2_RNA Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 288 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.S288L(2) breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TATGTCATCCGAAAAGGTGAC 0.443000 35 111 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43447209 43447209 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:43447209C>T ENST00000395891.1 + 8 1285 c.680C>T c.(679-681)cCt>cTt p.P227L HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.P227L NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 227 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 AACCCAGACCCTTATCTGAAG 0.438000 19 15 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 189038424 189038424 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:189038424T>C ENST00000345063.3 + 6 810 c.643T>C c.(643-645)Ttc>Ctc p.F215L TPRG1_ENST00000433971.1_Missense_Mutation_p.F215L NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 215 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) GTTGTCTGGGTTCATGTCTAA 0.408000 3 22 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33800122 33800122 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:33800122C>T ENST00000261326.5 + 9 1923 c.1902C>T c.(1900-1902)ctC>ctT p.L634L NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 634 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) AACCCCGGCTCTGCCTGATCC 0.532000 17 69 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12447418 12447418 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:12447418G>A ENST00000397026.2 + 7 974 c.591G>A c.(589-591)gaG>gaA p.E197E PPARG_ENST00000539812.1_Silent_p.E189E|PPARG_ENST00000309576.6_Silent_p.E191E|PPARG_ENST00000397010.2_Silent_p.E191E|PPARG_ENST00000397012.2_Silent_p.E191E|PPARG_ENST00000397015.2_Silent_p.E191E|PPARG_ENST00000397000.1_Silent_p.E191E|PPARG_ENST00000287820.6_Silent_p.E219E P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 219 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CCGAGAAGGAGAAGCTGTTGG 0.498000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 50 78 0 0 1 0 0 CHMP4A 29082 broad.mit.edu 37 14 24682669 24682669 + Nonsense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:24682669C>A ENST00000347519.6 - 1 406 c.106G>T c.(106-108)Gga>Tga p.G36* AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_5'UTR|TM9SF1_ENST00000556387.1_5'UTR NM_014169.3 NP_054888.2 charged multivesicular body protein 4A NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 GBM - Glioblastoma multiforme(265;0.0181) CTCCCGCCTCCGCCCCTCAGC 0.687000 3 85 1 1 1 1 0 ANO9 338440 broad.mit.edu 37 11 420826 420826 + Missense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:420826A>T ENST00000332826.6 - 18 1609 c.1525T>A c.(1525-1527)Tcc>Acc p.S509T NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 509 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CCGGACTCGGAGGCCCGCAGA 0.711000 12 21 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34129111 34129111 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:34129111C>T ENST00000389232.4 + 88 11643 c.11573C>T c.(11572-11574)tCc>tTc p.S3858F RYR3_ENST00000415757.3_Missense_Mutation_p.S3853F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3858 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTCTAGGATTCCAGTCAGATC 0.507000 10 27 0 0 1 0 0 LMBR1 64327 broad.mit.edu 37 7 156476796 156476796 + Silent SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:156476796T>A ENST00000353442.4 - 17 1685 c.1449A>T c.(1447-1449)gtA>gtT p.V483V LMBR1_ENST00000359422.4_Silent_p.V277V|LMBR1_ENST00000540390.1_Silent_p.V408V|LMBR1_ENST00000354505.4_Silent_p.V524V NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 483 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) GATGCCCATTTACAGAAGGCT 0.433000 128 81 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86537023 86537023 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:86537023G>A ENST00000450689.2 - 18 2706 c.2521C>T c.(2521-2523)Cct>Tct p.P841S KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P601S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P674S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P770S NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 841 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GATTTAGTAGGATTACACCTC 0.363000 22 53 0 0 1 0 0 LANCL1 10314 broad.mit.edu 37 2 211302499 211302499 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:211302499G>A ENST00000443314.1 - 6 1130 c.788C>T c.(787-789)cCa>cTa p.P263L AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.P263L|LANCL1_ENST00000431941.2_Missense_Mutation_p.P263L|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.P263L|LANCL1_ENST00000450366.2_Missense_Mutation_p.P263L O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 263 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) ACCTATACATGGAGGGTAATT 0.488000 56 70 0 0 1 0 0 RABL5 64792 broad.mit.edu 37 7 100958495 100958495 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:100958495C>T ENST00000517481.1 - 6 617 c.247G>A c.(247-249)Gaa>Aaa p.E83K RABL5_ENST00000437644.2_Missense_Mutation_p.E130K|RABL5_ENST00000315322.4_Missense_Mutation_p.E160K|RABL5_ENST00000498704.2_Missense_Mutation_p.E83K|RABL5_ENST00000495166.1_5'UTR Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 160 GTP binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.215) TTTATGAATTCCATCCGGATC 0.448000 OREG0018221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 65 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377055 18377055 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:18377055G>A ENST00000392413.3 - 3 1510 c.1295C>T c.(1294-1296)tCc>tTc p.S432F KIAA1683_ENST00000600328.2_Missense_Mutation_p.S432F|KIAA1683_ENST00000600359.2_Missense_Mutation_p.S386F NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 432 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGCCAGAAGGGAAACCTGAGG 0.612000 50 90 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160851992 160851992 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:160851992C>T ENST00000326245.3 - 4 275 c.160G>A c.(160-162)Ggc>Agc p.G54S NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 54 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AAATACAGGCCATCTGTAGAG 0.562000 47 61 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56462805 56462805 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:56462805C>T ENST00000370754.5 - 47 11835 c.e47-1 DST_ENST00000244364.6_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000361203.3_Splice_Site|DST_ENST00000370788.2_Splice_Site Q03001 DYST_HUMAN dystonin 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|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 NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGCTGCTACCTGGGAAGGGA 0.403000 14 10 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394591 233394591 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:233394591C>T ENST00000258229.8 - 5 1251 c.1017G>A c.(1015-1017)ggG>ggA p.G339G PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 339 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGGGCAGGTCCCCCTGGCAGG 0.567000 51 79 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183498584 183498584 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:183498584T>C ENST00000367537.3 + 9 1041 c.846T>C c.(844-846)ttT>ttC p.F282F SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Silent_p.F253F|SMG7_ENST00000508461.1_Silent_p.F211F|SMG7_ENST00000347615.2_Silent_p.F253F|SMG7_ENST00000507469.1_Silent_p.F253F|SMG7_ENST00000456731.2_Silent_p.F211F Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 253 R -> E (in Ref. 1; BAC53621). mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCAAGGCCTTTATTAAATTCC 0.388000 47 19 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47274574 47274574 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:47274574C>T ENST00000337137.4 + 5 829 c.663C>T c.(661-663)tcC>tcT p.S221S TBC1D22A_ENST00000355704.3_Silent_p.S143S|TBC1D22A_ENST00000406733.1_Silent_p.S174S|TBC1D22A_ENST00000407381.3_Silent_p.S162S|TBC1D22A_ENST00000380995.1_Silent_p.S174S NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 221 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) TGAGCTGGTCCGGAATCCCTA 0.512000 65 42 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87162404 87162404 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:87162404G>A ENST00000285393.3 + 6 845 c.703G>A c.(703-705)Gaa>Aaa p.E235K CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 235 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 ATTGAGCAAAGAAGACCGAGA 0.448000 20 56 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551095 248551095 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:248551095C>T ENST00000355728.2 + 1 186 c.186C>T c.(184-186)ctC>ctT p.L62L NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTACTTCCTCCTCAGCCACC 0.488000 16 36 0 0 1 0 0 SLC25A34 284723 broad.mit.edu 37 1 16063164 16063164 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:16063164C>T ENST00000294454.5 + 1 265 c.184C>T c.(184-186)Cga>Tga p.R62* RP11-288I21.1_ENST00000453804.1_RNA NM_207348.1 NP_997231.1 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 62 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGCTGTGGCCCGAGCAGACGG 0.662000 19 13 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14561673 14561673 + RNA SNP C C T rs111407877 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:14561673C>T ENST00000273083.3 - 0 1039 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GATCTCCAGCCGCACCTTCTC 0.617000 21 14 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051328 38051328 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:38051328G>A ENST00000261439.4 + 11 2074 c.1719G>A c.(1717-1719)tcG>tcA p.S573S TBC1D1_ENST00000508802.1_Silent_p.S573S NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 573 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CCAGTGACTCGGAGAGTCATC 0.592000 87 75 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 335560 335560 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:335560C>T ENST00000343164.4 - 9 1108 c.1056G>A c.(1054-1056)gaG>gaA p.E352E SLC6A13_ENST00000445055.2_Silent_p.E260E NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 352 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ACTCACCTGACTCGGCCACCT 0.587000 21 128 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49052332 49052332 + Nonsense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:49052332G>T ENST00000395474.3 + 6 3347 c.3067G>T c.(3067-3069)Gag>Tag p.E1023* WDR6_ENST00000415265.2_Nonsense_Mutation_p.E441*|WDR6_ENST00000448293.1_Nonsense_Mutation_p.E942* NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 993 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) GCCCACCCGTGAGGGCCACCA 0.597000 130 155 3.00498e-84 3.1112e-84 1 1 0 KCNT2 343450 broad.mit.edu 37 1 196461411 196461411 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:196461411G>A ENST00000367433.5 - 2 257 c.156C>T c.(154-156)ttC>ttT p.F52F KCNT2_ENST00000294725.8_Silent_p.F52F|KCNT2_ENST00000367431.4_Silent_p.F52F|KCNT2_ENST00000451324.2_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 52 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GGTTTTTTATGAAAAATAATT 0.264000 7 4 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846798 123846798 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:123846798C>T ENST00000369005.1 + 4 5123 c.4783C>T c.(4783-4785)Cct>Tct p.P1595S TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.P1595S|TACC2_ENST00000515273.1_Missense_Mutation_p.P1595S|TACC2_ENST00000453444.2_Missense_Mutation_p.P1595S|TACC2_ENST00000515603.1_Missense_Mutation_p.P1595S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1595 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGACAGAATTCCTTCTGGAAA 0.582000 39 27 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123970388 123970388 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:123970388G>A ENST00000369005.1 + 9 6788 c.6448G>A c.(6448-6450)Gtg>Atg p.V2150M TACC2_ENST00000368999.1_Missense_Mutation_p.V228M|TACC2_ENST00000369004.3_Missense_Mutation_p.V228M|TACC2_ENST00000358010.1_Missense_Mutation_p.V296M|TACC2_ENST00000513429.1_Missense_Mutation_p.V296M|TACC2_ENST00000334433.3_Missense_Mutation_p.V2150M|TACC2_ENST00000515273.1_Missense_Mutation_p.V2154M|TACC2_ENST00000260733.3_Missense_Mutation_p.V228M|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.V2154M|TACC2_ENST00000515603.1_Missense_Mutation_p.V2105M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000360561.3_Missense_Mutation_p.V228M NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2150 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GACCCCCCCAGTGAAGGAGAC 0.517000 82 99 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221496 55221496 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:55221496C>T ENST00000413439.1 + 0 1276 GCCGGCAGCCCCAGGCTGGGC 0.617000 35 44 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209116179 209116179 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:209116179G>A ENST00000415913.1 - 3 478 c.97C>T c.(97-99)Ccc>Tcc p.P33S IDH1_ENST00000345146.2_Missense_Mutation_p.P33S|IDH1_ENST00000446179.1_Missense_Mutation_p.P33S O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 33 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.P33S(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TCCACGTAGGGAAAAATGAGT 0.423000 Mis gliobastoma 28 59 0 0 1 0 0 DENND6A 201627 broad.mit.edu 37 3 57614557 57614557 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:57614557A>C ENST00000311128.5 - 19 1746 c.1676T>G c.(1675-1677)tTg>tGg p.L559W RP11-755B10.2_ENST00000470427.1_RNA NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A TTTCAGCTTCAAGACAAGGTC 0.358000 10 171 0 0 1 0 0 FAM161B 145483 broad.mit.edu 37 14 74411278 74411278 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:74411278G>A ENST00000286544.3 - 3 1072 c.874C>T c.(874-876)Ctc>Ttc p.L292F FAM161B_ENST00000534936.1_Missense_Mutation_p.L229F NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 TCTTGGTAGAGGGGCAGGTAG 0.617000 33 91 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23543655 23543655 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:23543655G>A ENST00000300619.7 - 4 2331 c.2126C>T c.(2125-2127)gCt>gTt p.A709V ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A677V NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 709 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTTCTCTCCAGCATGTATTAT 0.323000 52 61 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34181823 34181823 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:34181823C>T ENST00000435224.2 - 12 2899 c.2475G>A c.(2473-2475)gaG>gaA p.E825E ABTB2_ENST00000298992.2_Silent_p.E639E NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 639 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) TCTTCCGGATCTCTGGGATGC 0.642000 42 63 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86509800 86509800 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:86509800G>A ENST00000450689.2 - 22 3262 c.3077C>T c.(3076-3078)tCc>tTc p.S1026F KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S786F|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S859F|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S955F NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 1026 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TATATTTGGGGATCTTGAGGT 0.348000 10 29 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28893659 28893659 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:28893659G>A ENST00000282397.4 - 24 3438 c.3187C>T c.(3187-3189)Ctg>Ttg p.L1063L FLT1_ENST00000543394.1_Silent_p.L86L|FLT1_ENST00000540678.1_Silent_p.L281L NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1063 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ATCCATTTCAGAGGAAGTCGA 0.493000 20 26 0 0 1 0 0 BPGM 669 broad.mit.edu 37 7 134363695 134363695 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:134363695C>A ENST00000393132.2 + 4 1181 c.692C>A c.(691-693)cCt>cAt p.P231H BPGM_ENST00000418040.1_Missense_Mutation_p.P231H|BPGM_ENST00000344924.3_Missense_Mutation_p.P231H NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase 231 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 GCTGTTGGGCCTCATCAGTTC 0.428000 39 96 3.54909e-21 3.61643e-21 1 1 0 KIAA1683 80726 broad.mit.edu 37 19 18377054 18377054 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:18377054G>A ENST00000392413.3 - 3 1511 c.1296C>T c.(1294-1296)tcC>tcT p.S432S KIAA1683_ENST00000600328.2_Silent_p.S432S|KIAA1683_ENST00000600359.2_Silent_p.S386S NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 432 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AAGCCAGAAGGGAAACCTGAG 0.612000 48 90 0 0 1 0 0 CXorf67 340602 broad.mit.edu 37 X 51150929 51150929 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:51150929C>T ENST00000342995.2 + 1 1163 c.1061C>T c.(1060-1062)tCa>tTa p.S354L chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 CAGCAAAGATCAGCCCTTCTC 0.622000 47 5 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12317381 12317381 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:12317381G>A ENST00000261349.4 - 9 1954 c.1878C>T c.(1876-1878)acC>acT p.T626T LRP6_ENST00000543091.1_Silent_p.T626T NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 626 EGF-like 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GGACAATGCAGGTCTTCATGT 0.468000 68 78 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139313701 139313701 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:139313701G>A ENST00000406875.3 - 5 1526 c.1432C>T c.(1432-1434)Cag>Tag p.Q478* HIPK2_ENST00000342645.6_Nonsense_Mutation_p.Q478*|HIPK2_ENST00000428878.2_Nonsense_Mutation_p.Q478* NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 478 Interaction with DAXX.|Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) AAGCTTACCTGGGCCATATCA 0.413000 10 4 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 66999061 66999061 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:66999061C>T ENST00000529006.2 + 12 1555 c.1109C>T c.(1108-1110)tCt>tTt p.S370F KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S370F NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 GGGTTGGAGTCTGGGAATGGG 0.478000 11 18 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37076662 37076662 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:37076662G>A ENST00000263918.4 - 18 2288 c.2280C>T c.(2278-2280)ttC>ttT p.F760F STRN_ENST00000379213.2_Silent_p.F711F NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 760 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TGGATGGGTGGAAAGCTACAT 0.398000 41 56 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142498745 142498745 + RNA SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:142498745C>A ENST00000466254.1 + 0 21 AAACGTGTTCCCACCCGAGGT 0.562000 6 89 8.24728e-16 8.37201e-16 1 1 0 FBLN5 10516 broad.mit.edu 37 14 92413555 92413555 + Splice_Site SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:92413555A>T ENST00000267620.10 - 1 187 c.e1+1 FBLN5_ENST00000342058.4_Splice_Site Q9UBX5 FBLN5_HUMAN fibulin 5 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CCGAGAACCCACCTTTTTATT 0.587000 29 5 0 0 1 0 0 CYB5R2 51700 broad.mit.edu 37 11 7688983 7688983 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:7688983C>T ENST00000533558.1 - 7 1090 c.534G>A c.(532-534)agG>agA p.R178R CYB5R2_ENST00000299497.9_Silent_p.R178R|CYB5R2_ENST00000299498.6_Silent_p.R178R|CYB5R2_ENST00000524790.1_Silent_p.R178R|CYB5R2_ENST00000528585.1_5'UTR Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 178 sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGAGGGACATCCTGGTCCTGT 0.537000 165 210 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140746235 140746235 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140746235C>T ENST00000518069.1 + 1 2338 c.2338C>T c.(2338-2340)Ctt>Ttt p.L780F PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACACGCTCCTTAGTGAAGA 0.517000 189 35 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52231614 52231614 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:52231614A>G ENST00000371710.3 + 12 1135 c.953A>G c.(952-954)gAa>gGa p.E318G OSBPL9_ENST00000462759.1_Missense_Mutation_p.E122G|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E305G|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E287G|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E190G|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E300G|OSBPL9_ENST00000486942.1_Missense_Mutation_p.E122G|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E219G|OSBPL9_ENST00000531828.1_Missense_Mutation_p.E135G|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E283G|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E310G|OSBPL9_ENST00000435686.2_Missense_Mutation_p.E135G NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 300 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 GATGCTGATGAATTCCATCAA 0.378000 23 71 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108455394 108455394 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:108455394G>A ENST00000408999.3 + 4 456 c.379G>A c.(379-381)Gga>Aga p.G127R RGPD4_ENST00000354986.4_Missense_Mutation_p.G127R NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 127 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ACTTTTCCCAGGAAGTCCTGC 0.318000 105 126 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754809 140754809 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140754809C>T ENST00000517434.1 + 1 1159 c.1159C>T c.(1159-1161)Ccg>Tcg p.P387S PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 p.P387A(1) breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTTCCATCCCGAGAAGTCT 0.443000 69 8 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36625328 36625328 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:36625328C>T ENST00000373448.2 - 7 3059 c.2821G>A c.(2821-2823)Ggt>Agt p.G941S TTI1_ENST00000449821.1_Missense_Mutation_p.G941S|TTI1_ENST00000373447.3_Missense_Mutation_p.G941S NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 941 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 AGAAAGTCACCACACTTGCTT 0.537000 74 126 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45279034 45279034 + Missense_Mutation SNP C C T rs115427466 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:45279034C>T ENST00000313237.5 - 13 1678 c.1528G>A c.(1528-1530)Ggg>Agg p.G510R PHF21B_ENST00000396103.3_Missense_Mutation_p.G468R|PHF21B_ENST00000404079.2_Missense_Mutation_p.G456R|PHF21B_ENST00000403565.1_Missense_Mutation_p.G306R NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 510 zinc ion binding p.G510W(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GTCCAGGGCCCGGCCAGCAGT 0.667000 104 205 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27549689 27549689 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:27549689G>T ENST00000359541.2 - 19 3018 c.2589C>A c.(2587-2589)atC>atA p.I863I GTF3C2_ENST00000264720.3_Silent_p.I863I Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 863 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGACAAAATGGATTCGAACCA 0.547000 67 80 4.05715e-38 4.16045e-38 1 1 0 NLRP9 338321 broad.mit.edu 37 19 56243965 56243965 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:56243965G>A ENST00000332836.2 - 2 1259 c.1232C>T c.(1231-1233)tCc>tTc p.S411F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 411 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATCCCCATGGGAAAATACAAA 0.498000 62 106 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29543648 29543648 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:29543648G>A ENST00000389048.3 - 7 2421 c.1515C>T c.(1513-1515)acC>acT p.T505T ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 505 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CATCCTTTAGGGTCCTGACCT 0.547000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 136 158 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74319582 74319582 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:74319582G>A ENST00000395792.2 + 13 1853 c.1753G>A c.(1753-1755)Ggc>Agc p.G585S AFP_ENST00000226359.2_Missense_Mutation_p.G585S|AFP_ENST00000506820.1_3'UTR NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 585 Albumin 3. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATGCTGCCAAGGCCAGGAACA 0.418000 Alpha-Fetoprotein, Hereditary Persistence of 19 45 0 0 1 0 0 TBCB 1155 broad.mit.edu 37 19 36616592 36616592 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:36616592G>A ENST00000221855.3 + 6 1218 c.643G>A c.(643-645)Gaa>Aaa p.E215K TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.E164K NM_001281.2 NP_001272.2 Q99426 TBCB_HUMAN tubulin folding cofactor B 215 CAP-Gly. 'de novo' posttranslational protein folding|cell differentiation|nervous system development cytoplasm|microtubule protein binding large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACGCTACTTCGAATGCCAGGC 0.572000 336 425 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411785 43411785 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:43411785C>T ENST00000187910.2 - 4 993 c.928G>A c.(928-930)Gaa>Aaa p.E310K PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.E310K NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TCCCGTATTTCACATTGATAG 0.507000 107 125 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811682 140811682 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140811682C>T ENST00000252085.3 + 1 1498 c.1356C>T c.(1354-1356)ttC>ttT p.F452F PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCGGTCTTCCCTCAGGCCT 0.592000 62 7 0 0 1 0 0 RBKS 64080 broad.mit.edu 37 2 28113153 28113153 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:28113153C>T ENST00000302188.3 - 1 812 c.60G>A c.(58-60)gtG>gtA p.V20V RBKS_ENST00000444339.2_Silent_p.V20V NM_022128.1 NP_071411.1 Q9H477 RBSK_HUMAN ribokinase 20 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) AGGAGCCCACCACTACCACCG 0.667000 54 69 0 0 1 0 0 CYS1 192668 broad.mit.edu 37 2 10198994 10198994 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:10198994C>T ENST00000381813.4 - 3 650 c.463G>A c.(463-465)Gag>Aag p.E155K CYS1_ENST00000477304.1_5'UTR NM_001037160.2 NP_001032237.1 Q717R9 CYS1_HUMAN cystin 1 155 cilium axoneme large_intestine(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227) CGGCAGTACTCCCGCTCGATG 0.677000 14 16 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11400710 11400710 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:11400710G>A ENST00000227756.4 - 4 1108 c.697C>T c.(697-699)Cgc>Tgc p.R233C NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 ACCCTGGAGCGGATGAGGCCT 0.587000 23 36 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26877926 26877926 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:26877926C>T ENST00000374168.2 + 5 500 c.346C>T c.(346-348)Ctg>Ttg p.L116L RPS6KA1_ENST00000374162.2_Silent_p.L24L|RPS6KA1_ENST00000374166.4_Silent_p.L116L|RPS6KA1_ENST00000531382.1_Silent_p.L125L|RPS6KA1_ENST00000530003.1_Silent_p.L100L|RPS6KA1_ENST00000526792.1_Silent_p.L24L NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 116 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GAGAGACATCCTGGCTGATGT 0.567000 35 129 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79941490 79941490 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:79941490T>C ENST00000306729.7 + 3 316 c.219T>C c.(217-219)aaT>aaC p.N73N ASPSCR1_ENST00000581647.1_Silent_p.N73N|ASPSCR1_ENST00000306739.4_Silent_p.N73N|ASPSCR1_ENST00000580534.1_5'UTR NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 73 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TGCCCAACAATGCCAAGCTGG 0.612000 T TFE3 alveolar soft part sarcoma 13 62 0 0 1 0 0 ZNF589 51385 broad.mit.edu 37 3 48309810 48309810 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:48309810C>T ENST00000354698.3 + 4 701 c.629C>T c.(628-630)cCa>cTa p.P210L ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron NM_016089.2 NP_057173.2 Q86UQ0 ZN589_HUMAN zinc finger protein 589 210 regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCAGAAACCCCAGGGTTTGGA 0.483000 15 88 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35631958 35631958 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:35631958G>A ENST00000287272.2 + 15 2433 c.2413G>A c.(2413-2415)Gac>Aac p.D805N UNC5D_ENST00000404895.2_Missense_Mutation_p.D874N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D450N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D879N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D869N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D807N Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 874 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CAAAGGCAAGGACTGGCAGAT 0.468000 25 23 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455278 84455278 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:84455278C>T ENST00000377084.2 - 1 1250 c.365G>A c.(364-366)cGa>cAa p.R122Q NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 122 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGTCTGCTTTCGAAAAGACTT 0.468000 69 76 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196659101 196659101 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:196659101C>T ENST00000312428.6 - 57 10777 c.10677G>A c.(10675-10677)ccG>ccA p.P3559P DNAH7_ENST00000409063.1_Silent_p.P42P NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3559 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GATCAGAGATCGGGTCCATGA 0.463000 72 90 0 0 1 0 0 CHP1 11261 broad.mit.edu 37 15 41555046 41555046 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:41555046C>T ENST00000334660.5 + 4 554 c.314C>T c.(313-315)cCc>cTc p.P105L CHP1_ENST00000560397.1_Missense_Mutation_p.P105L|CHP1_ENST00000558351.1_3'UTR NM_007236.4 NP_009167.1 Q99653 CHP1_HUMAN calcineurin-like EF-hand protein 1 105 potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity GTGAATGGACCCGAACCACTC 0.418000 59 100 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75022272 75022272 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:75022272G>C ENST00000261978.4 - 4 1341 c.955C>G c.(955-957)Cca>Gca p.P319A CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.P319A NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 319 P -> Q (in dbSNP:rs2304707). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCAAGGCCTGGTCCCGGGGGC 0.642000 14 206 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30043513 30043513 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:30043513G>A ENST00000244360.6 - 1 151 c.54C>T c.(52-54)atC>atT p.I18I RNF39_ENST00000376751.3_Silent_p.I18I NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 18 cytoplasm zinc ion binding CCTCTCCTGGGATTGCCTCTC 0.587000 36 99 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51889911 51889911 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:51889911G>A ENST00000371117.3 - 32 4972 c.4697C>T c.(4696-4698)tCc>tTc p.S1566F PKHD1_ENST00000340994.4_Missense_Mutation_p.S1566F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1566 IPT/TIG 10. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAAGTGTCTGGAAACATTACC 0.458000 41 46 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44336148 44336148 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:44336148A>G ENST00000288390.2 + 5 954 c.607A>G c.(607-609)Act>Gct p.T203A SPATS1_ENST00000323108.8_Missense_Mutation_p.T203A Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 203 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCCAAAGTTAACTCCAGGCGA 0.403000 55 83 0 0 1 0 0 MUM1 84939 broad.mit.edu 37 19 1360579 1360579 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:1360579A>G ENST00000311401.5 + 5 841 c.455A>G c.(454-456)aAc>aGc p.N152S MUM1_ENST00000344663.3_Missense_Mutation_p.N221S|MUM1_ENST00000415183.3_Missense_Mutation_p.N221S|MUM1_ENST00000591806.1_Missense_Mutation_p.N221S Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 220 chromatin organization|DNA repair nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGGAGGAAACTCAGCGCAG 0.572000 22 105 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412543 154412543 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:154412543G>A ENST00000414028.2 + 3 1150 c.1100G>A c.(1099-1101)cGa>cAa p.R367Q OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.R367Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 367 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding p.R367L(2)|p.R460L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AACTCCACTCGAATTCGTCAG 0.443000 34 29 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122422657 122422657 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:122422657C>T ENST00000474629.2 + 7 3416 c.3150C>T c.(3148-3150)ctC>ctT p.L1050L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1050 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CTAAGTCCCTCTTGGAAAAAG 0.478000 19 27 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997029 62997029 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:62997029G>A ENST00000306494.6 - 1 95 c.96C>T c.(94-96)taC>taT p.Y32Y SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 32 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GAGTTTGATGGTATACTATGA 0.463000 55 75 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25379139 25379139 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:25379139C>T ENST00000315368.3 + 2 232 c.90C>T c.(88-90)ccC>ccT p.P30P ANAPC4_ENST00000510092.1_Silent_p.P30P NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 30 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TCTGGTCGCCCAAGCGGGATC 0.637000 17 37 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70222683 70222683 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:70222683G>A ENST00000253925.7 + 25 3576 c.3361G>A c.(3361-3363)Ggg>Agg p.G1121R PPFIA1_ENST00000389547.3_Missense_Mutation_p.G1121R|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 1121 GTD -> PEF (in Ref. 4; BAA08353). cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TTTGGTCATGGGGACTGATAG 0.328000 65 119 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066219 23066219 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:23066219G>A ENST00000246006.4 - 1 758 c.611C>T c.(610-612)cCc>cTc p.P204L NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 204 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGTCTGGAAGGGGGTGGTGTA 0.592000 56 74 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640165 156640165 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:156640165G>A ENST00000368223.3 - 4 3947 c.3815C>T c.(3814-3816)cCc>cTc p.P1272L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1272 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGCCCTCGGGGATCTCCCC 0.647000 39 86 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47284690 47284690 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:47284690C>T ENST00000335044.2 - 16 1917 c.1560G>A c.(1558-1560)aaG>aaA p.K520K KIF9_ENST00000452770.2_Silent_p.K520K|KIF9_ENST00000444589.2_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.K520K NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 520 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AATCCAAGTCCTTCCCATTCA 0.542000 32 37 0 0 1 0 0 CHST3 9469 broad.mit.edu 37 10 73765672 73765672 + Nonsense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:73765672C>A ENST00000373115.4 + 2 509 c.72C>A c.(70-72)taC>taA p.Y24* NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 24 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity endometrium(1)|lung(5) 6 GAAGCAAATACGCCCTTTTCT 0.488000 38 85 4.64027e-19 4.71936e-19 1 1 0 ANK3 288 broad.mit.edu 37 10 61932690 61932690 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:61932690G>A ENST00000280772.1 - 20 2541 c.2350C>T c.(2350-2352)Cag>Tag p.Q784* ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q778*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q767* NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 784 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCGTTGTTCTGAAGTAAGACA 0.478000 31 25 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61748751 61748751 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:61748751C>T ENST00000423902.2 + 16 4377 c.3898C>T c.(3898-3900)Cca>Tca p.P1300S CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1300 Helicase C-terminal. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAGCTGCTGCCAAAACTGAA 0.502000 14 24 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54804141 54804141 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:54804141G>A ENST00000391745.1 - 5 400 c.85_splice c.e5+1 p.L28_splice LILRA3_ENST00000251390.3_Splice_Site_p.L11_splice|LILRA3_ENST00000391744.3_Splice_Site_p.L11_splice leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AAATCTCACCGAGACAGATCA 0.587000 101 89 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 3 30 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28272830 28272830 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:28272830G>A ENST00000305242.5 - 6 853 c.761C>T c.(760-762)cCt>cTt p.P254L ARMC4_ENST00000239715.3_Missense_Mutation_p.P111L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 254 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACCATCGTGAGGTTTCACCAG 0.393000 23 22 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57476829 57476829 + Nonsense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:57476829C>A ENST00000371236.2 - 13 1824 c.1561G>T c.(1561-1563)Gag>Tag p.E521* DAB1_ENST00000420954.2_Nonsense_Mutation_p.E519*|DAB1_ENST00000439789.2_Nonsense_Mutation_p.E435*|DAB1_ENST00000371234.4_Nonsense_Mutation_p.E521*|DAB1_ENST00000371231.1_Nonsense_Mutation_p.E554*|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Nonsense_Mutation_p.E503* O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 554 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCTTCTTGCTCTTCGCTTTTG 0.413000 66 49 1.37693e-34 1.4093e-34 1 1 0 LNX1 84708 broad.mit.edu 37 4 54439943 54439943 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:54439943G>A ENST00000263925.7 - 2 541 c.227C>T c.(226-228)cCc>cTc p.P76L FIP1L1_ENST00000507166.1_Intron NM_001126328.2 NP_001119800.1 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 76 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GCGGTCCATGGGACAGAAGTC 0.572000 13 22 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38755466 38755466 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:38755466G>A ENST00000449082.2 - 21 3786 c.3787C>T c.(3787-3789)Cga>Tga p.R1263* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1263 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCTTCAAATCGAGAAAGAGCC 0.532000 59 71 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70919548 70919548 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:70919548G>A ENST00000264436.3 - 7 1136 c.692C>T c.(691-693)cCg>cTg p.P231L ADD2_ENST00000407644.2_Missense_Mutation_p.P231L|ADD2_ENST00000413157.2_Missense_Mutation_p.P231L|ADD2_ENST00000355733.3_Missense_Mutation_p.P231L|ADD2_ENST00000430656.1_Missense_Mutation_p.P247L NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 231 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TGCTGTGGCCGGTGTGTGCAG 0.587000 8 56 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84520260 84520260 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:84520260C>T ENST00000360700.4 + 6 1801 c.916_splice c.e6+1 p.I305_splice ZNF711_ENST00000373165.3_Splice_Site_p.I305_splice|ZNF711_ENST00000542798.1_Splice_Site_p.I101_splice|ZNF711_ENST00000395402.1_Splice_Site_p.I283_splice|ZNF711_ENST00000276123.3_Splice_Site_p.I305_splice Q9Y462 ZN711_HUMAN zinc finger protein 711 305 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AAGATGATATCAGTAAGAAAA 0.393000 26 3 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110431437 110431437 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:110431437C>T ENST00000378402.5 + 22 2576 c.2472C>T c.(2470-2472)ttC>ttT p.F824F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 824 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CACAGTCCTTCTATGTGGATG 0.358000 HNSCC(38;0.096) 4 17 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78180377 78180377 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:78180377G>A ENST00000370793.1 - 20 2576 c.2230C>T c.(2230-2232)Cga>Tga p.R744* USP33_ENST00000370794.3_Nonsense_Mutation_p.R713*|USP33_ENST00000370792.3_Nonsense_Mutation_p.R736*|USP33_ENST00000357428.1_Nonsense_Mutation_p.R744* NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 744 DUSP 1. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 AGCCACTGTCGAGAAATATAA 0.373000 49 27 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 436266 436266 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:436266T>C ENST00000280886.6 - 12 1519 c.1432A>G c.(1432-1434)Aaa>Gaa p.K478E DIP2C_ENST00000381496.3_Missense_Mutation_p.K371E NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 478 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CGGGGCGGTTTGGAGAGATGT 0.473000 59 35 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023594 76023594 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:76023594C>T ENST00000393004.2 - 5 2175 c.1954G>A c.(1954-1956)Gat>Aat p.D652N FILIP1_ENST00000237172.7_Missense_Mutation_p.D652N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.D553N Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 652 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTCATCAAATCCCCTTCGACC 0.418000 72 190 0 0 1 0 0 WDR24 84219 broad.mit.edu 37 16 734758 734758 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:734758G>A ENST00000293883.4 - 9 3108 c.2349C>T c.(2347-2349)tgC>tgT p.C783C WDR24_ENST00000248142.6_Silent_p.C913C NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 913 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) AGAGGTGGCCGCAGCCTGCGG 0.692000 3 19 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42852511 42852511 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:42852511T>C ENST00000398585.3 - 6 635 c.575A>G c.(574-576)aAc>aGc p.N192S TMPRSS2_ENST00000332149.5_Missense_Mutation_p.N155S|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.N155S NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 155 SRCR. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) AAGGATGAAGTTTGGTCCGTA 0.517000 T """ERG, ETV1, ETV4, ETV5""" prostate 24 42 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21550456 21550456 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:21550456C>T ENST00000298694.4 + 15 3432 c.3305C>T c.(3304-3306)gCc>gTc p.A1102V ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A1102V Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1102 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GATTACGTGGCCACCTTGAGT 0.637000 29 34 0 0 1 0 0 ABHD11 83451 broad.mit.edu 37 7 73151384 73151384 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:73151384G>A ENST00000222800.3 - 5 759 c.690C>T c.(688-690)ttC>ttT p.F230F ABHD11_ENST00000437775.2_Silent_p.F223F|ABHD11_ENST00000395147.4_Silent_p.F173F|ABHD11_ENST00000458339.1_Intron NM_148912.2 NP_683710.1 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 230 hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Lung NSC(55;0.0908)|all_lung(88;0.198) CCCTCCACACGAAGCGCCCGT 0.607000 52 138 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120602263 120602263 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:120602263G>A ENST00000300648.6 - 18 1737 c.1725C>T c.(1723-1725)agC>agT p.S575S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 575 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCAGGTGCGGCTCAGGAGCA 0.642000 93 57 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73541499 73541499 + Missense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:73541499A>T ENST00000339362.5 + 11 2152 c.1705A>T c.(1705-1707)Att>Ttt p.I569F NEO1_ENST00000261908.6_Missense_Mutation_p.I569F|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.I569F|NEO1_ENST00000560262.1_Missense_Mutation_p.I569F Q92859 NEO1_HUMAN neogenin 1 569 Fibronectin type-III 2. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CAATGGGGAAATTCAGAATTA 0.438000 42 62 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551905 100551905 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:100551905G>A ENST00000319509.7 + 1 656 c.656G>A c.(655-657)gGa>gAa p.G219E mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TTCACTAGGGGAAGTACGTCT 0.428000 74 555 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111896274 111896274 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:111896274G>A ENST00000280346.6 + 1 737 c.78G>A c.(76-78)caG>caA p.Q26Q DLAT_ENST00000393051.1_Silent_p.Q26Q NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 26 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) CGGCCTTGCAGGAGGTACCCG 0.682000 65 73 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4794871 4794871 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:4794871C>A ENST00000355280.6 + 16 2057 c.1861C>A c.(1861-1863)Cct>Act p.P621T MINK1_ENST00000347992.7_Missense_Mutation_p.P621T|MINK1_ENST00000453408.3_Missense_Mutation_p.P601T NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 621 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TGACCCCGACCCTGCCATCCC 0.662000 9 26 2.17888e-05 2.19249e-05 1 1 0 MALT1 10892 broad.mit.edu 37 18 56390306 56390306 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:56390306G>A ENST00000348428.3 + 10 1303 c.1045G>A c.(1045-1047)Gga>Aga p.G349R RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G338R NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 349 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 CCTTTTGATAGGAAATATGAA 0.388000 T BIRC3 MALT 12 22 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51250729 51250729 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:51250729C>T ENST00000261842.5 + 14 1695 c.1589C>T c.(1588-1590)cCa>cTa p.P530L AP4E1_ENST00000560508.1_Missense_Mutation_p.P455L NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 530 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) AAGGAAACGCCAGAGGAAGTT 0.343000 11 11 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754297 49754297 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:49754297C>T ENST00000304801.3 - 1 756 c.604G>A c.(604-606)Gaa>Aaa p.E202K NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 202 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) ACTGGGTTTTCCAAGGCTTTA 0.448000 27 88 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28919905 28919905 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:28919905G>A ENST00000257192.4 + 11 1816 c.1604G>A c.(1603-1605)gGa>gAa p.G535E NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 535 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CCCGGAAACGGAGCCAAAGAT 0.413000 58 51 0 0 1 0 0 CHRNA5 1138 broad.mit.edu 37 15 78882618 78882618 + Silent SNP C C T rs141986748 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:78882618C>T ENST00000299565.5 + 5 1085 c.885C>T c.(883-885)ttC>ttT p.F295F RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron NM_000745.3 NP_000736.2 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 (neuronal) 295 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 TGACTGTCTTCCTTCTGGTTA 0.358000 42 48 0 0 1 0 0 TRBV9 28586 broad.mit.edu 37 7 142240017 142240017 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:142240017G>A ENST00000390363.2 - 0 41 CCCATGGCAGGATCTCCTAGC 0.517000 48 36 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3445875 3445875 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:3445875G>A ENST00000382774.3 + 5 700 c.585G>A c.(583-585)aaG>aaA p.K195K HGFAC_ENST00000511533.1_Silent_p.K195K NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 195 EGF-like 1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCACCGGCAAGGACTGCGGCA 0.687000 13 7 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51274960 51274960 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:51274960C>T ENST00000266037.9 + 21 2064 c.2041C>T c.(2041-2043)Cac>Tac p.H681Y NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 681 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAAGTATTTTCACTTTCGACC 0.468000 21 24 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541105 55541105 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:55541105C>T ENST00000361760.1 + 1 192 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F64_L65>LI(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGTGCTTTTTCCTTAGTCACT 0.398000 37 51 0 0 1 0 0 IL13RA1 3597 broad.mit.edu 37 X 117892165 117892165 + Silent SNP A A G rs142695639 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:117892165A>G ENST00000371666.3 + 5 703 c.636A>G c.(634-636)aaA>aaG p.K212K IL13RA1_ENST00000371642.1_Silent_p.K212K|IL13RA1_ENST00000481868.1_3'UTR NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 212 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 ATGCAGGAAAAATTAAACCAT 0.358000 15 78 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25471999 25471999 + Silent SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:25471999G>C ENST00000278886.6 - 11 1546 c.1473C>G c.(1471-1473)acC>acG p.T491T NINL_ENST00000422516.1_Silent_p.T491T NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 491 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TCAGGGCCAGGGTCAGCTTCT 0.677000 48 67 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175362936 175362936 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:175362936C>T ENST00000367674.1 - 6 2044 c.1336G>A c.(1336-1338)Gaa>Aaa p.E446K TNR_ENST00000263525.2_Missense_Mutation_p.E446K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 446 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AAGCTGATTTCCCACCCATCG 0.473000 89 208 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152826342 152826342 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:152826342G>A ENST00000367255.5 - 9 1373 c.772C>T c.(772-774)Cct>Tct p.P258S SYNE1_ENST00000367248.3_Missense_Mutation_p.P265S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P258S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P265S|SYNE1_ENST00000367253.4_Missense_Mutation_p.P258S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P258S|SYNE1_ENST00000413186.2_Missense_Mutation_p.P258S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P265S|SYNE1_ENST00000466159.2_Missense_Mutation_p.P258S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 258 Actin-binding.|CH 2. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTACCTTCAGGATCTAGCAGT 0.428000 HNSCC(10;0.0054) 22 38 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900343 123900343 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:123900343G>C ENST00000431524.1 + 1 47 c.14G>C c.(13-15)aGc>aCc p.S5T NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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;0.0521) TCCAACGCCAGCCTACTGACA 0.527000 5 208 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58018666 58018666 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:58018666G>C ENST00000379218.2 + 11 1663 c.1352G>C c.(1351-1353)gGc>gCc p.G451A SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Silent_p.G415G Q8NG04 S2610_HUMAN solute carrier family 26, member 10 0 STAS. integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) AGGTCCCGGGGCTCTGCATCC 0.582000 96 18 0 0 1 0 0 LRRC20 55222 broad.mit.edu 37 10 72083724 72083724 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:72083724G>C ENST00000355790.4 - 4 772 c.295C>G c.(295-297)Ctc>Gtc p.L99V LRRC20_ENST00000373224.1_Missense_Mutation_p.L99V|LRRC20_ENST00000358141.2_Missense_Mutation_p.L49V|LRRC20_ENST00000395011.1_Missense_Mutation_p.L49V|LRRC20_ENST00000395010.1_Intron NM_001278212.1|NM_001278214.1|NM_207119.1 NP_001265141.1|NP_001265143.1|NP_997002.1 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 99 endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 ATGGCCTTGAGGTGCTGCAGG 0.617000 35 76 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28543164 28543164 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:28543164G>A ENST00000401766.2 - 6 1420 c.908C>T c.(907-909)cCt>cTt p.P303L SLC6A4_ENST00000261707.3_Missense_Mutation_p.P303L P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 303 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CCAGGCTCCAGGGAGGGTGGC 0.522000 38 78 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925335 27925335 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:27925335C>T ENST00000244623.1 + 1 317 c.317C>T c.(316-318)gCc>gTc p.A106V NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATATTTCTGGCCTTGGGGGCT 0.443000 24 41 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14824048 14824048 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:14824048G>A ENST00000380881.4 - 13 2962 c.2147C>T c.(2146-2148)gCc>gTc p.A716V FREM1_ENST00000422223.2_Missense_Mutation_p.A715V|FREM1_ENST00000380880.3_Missense_Mutation_p.A715V Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 715 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CAGCTCCAGGGCCGTAGGATT 0.428000 11 1 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166012313 166012313 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:166012313G>A ENST00000360093.3 - 10 1623 c.1132C>T c.(1132-1134)Cga>Tga p.R378* SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R378*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R378* NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 378 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R378*(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GTCATGAGTCGAAATAGAGAC 0.413000 35 47 0 0 1 0 0 ACVR2B 93 broad.mit.edu 37 3 38524763 38524763 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:38524763C>T ENST00000352511.3 + 11 1951 c.1479C>T c.(1477-1479)ctC>ctT p.L493L NM_001106.3 NP_001097.2 Q13705 AVR2B_HUMAN activin A receptor, type IIB 493 activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) CGGACTGTCTCGTTTCCCTGG 0.587000 77 81 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96506961 96506961 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:96506961G>A ENST00000283109.3 - 6 796 c.728C>T c.(727-729)aCc>aTc p.T243I RIOK2_ENST00000508447.1_Missense_Mutation_p.T243I|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 243 ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) ATCAATCATGGTGATATGGTC 0.318000 26 46 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806954 33806954 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:33806954C>T ENST00000260908.7 - 2 392 c.275G>A c.(274-276)gGa>gAa p.G92E SLFN12L_ENST00000361112.4_Missense_Mutation_p.G121E|SLFN12L_ENST00000449046.1_Missense_Mutation_p.G123E NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 124 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 TAGCCCTATTCCATCTTTTTT 0.383000 22 23 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137622308 137622308 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:137622308C>T ENST00000371817.3 + 7 1565 c.1151C>T c.(1150-1152)tCc>tTc p.S384F NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 384 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCGACACCTCCAACTCCTCC 0.607000 60 13 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83636188 83636188 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:83636188A>C ENST00000566620.1 + 8 1380 c.1090A>C c.(1090-1092)Acc>Ccc p.T364P CDH13_ENST00000268613.10_Missense_Mutation_p.T411P|CDH13_ENST00000428848.3_Missense_Mutation_p.T325P NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 364 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ACCAAAATTCACCAAGAAAGA 0.473000 83 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579780 179579780 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179579780C>T ENST00000589042.1 - 90 26357 c.26133G>A c.(26131-26133)ggG>ggA p.G8711G TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.G7467G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.G8394G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8394 Ig-like 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGATATTCCCCAATGTCTG 0.453000 127 183 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98606063 98606063 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:98606063C>T ENST00000359863.4 + 69 10984 c.10775C>T c.(10774-10776)tCc>tTc p.S3592F TRRAP_ENST00000355540.3_Missense_Mutation_p.S3563F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S3581F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3592 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCTTCACTTTCCCTTGTGGAG 0.617000 87 247 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418502 55418502 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:55418502C>T ENST00000312422.2 + 1 123 c.123C>T c.(121-123)ctC>ctT p.L41L NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TGGGAAATCTCCTCATCATGC 0.393000 51 66 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207644818 207644818 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:207644818G>A ENST00000367057.3 + 9 1733 c.1544G>A c.(1543-1545)tGg>tAg p.W515* CR2_ENST00000458541.2_Intron|CR2_ENST00000367059.3_Nonsense_Mutation_p.W515*|CR2_ENST00000367058.3_Nonsense_Mutation_p.W515* NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 515 Sushi 8. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 ACAATTCCTTGGTTTATGGAG 0.388000 103 70 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26725413 26725413 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:26725413C>T ENST00000396005.3 - 5 916 c.607G>A c.(607-609)Gga>Aga p.G203R SLC5A12_ENST00000280467.6_Missense_Mutation_p.G203R NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 203 sodium ion transport apical plasma membrane|integral to membrane symporter activity p.G203R(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TGAGTTGATCCTTGAATGAGA 0.393000 93 107 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238303650 238303650 + Missense_Mutation SNP G G A rs144651558 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:238303650G>A ENST00000295550.4 - 3 741 c.289C>T c.(289-291)Cgt>Tgt p.R97C COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.R97C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R97C|COL6A3_ENST00000472056.1_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 97 Nonhelical region.|VWFA 1. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGTTTAGTACGATACGTATTT 0.388000 55 67 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42915883 42915883 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:42915883C>T ENST00000316161.4 - 1 1750 c.1426G>A c.(1426-1428)Gac>Aac p.D476N KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 476 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CGCTGCGGGTCAACATGGGGT 0.562000 35 46 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2855666 2855666 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:2855666G>A ENST00000602557.1 - 55 8802 c.8247C>T c.(8245-8247)ttC>ttT p.F2749F CSMD1_ENST00000537824.1_Silent_p.F2748F|CSMD1_ENST00000542608.1_Silent_p.F2690F|CSMD1_ENST00000400186.3_Silent_p.F2691F|CSMD1_ENST00000520002.1_Silent_p.F2749F|CSMD1_ENST00000602723.1_Silent_p.F2691F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2749 Sushi 19. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCCATTAGTGAATCCGTGGG 0.507000 59 111 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058260 56058260 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:56058260G>A ENST00000313022.2 - 1 306 c.279C>T c.(277-279)ttC>ttT p.F93F NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AGCAGCCCATGAAGGAAATAT 0.403000 170 180 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123910972 123910972 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:123910972C>T ENST00000373855.1 + 24 3742 c.3482C>T c.(3481-3483)gCc>gTc p.A1161V CNTRL_ENST00000373847.1_Missense_Mutation_p.A609V|CNTRL_ENST00000238341.5_Missense_Mutation_p.A1161V|CNTRL_ENST00000373850.1_Missense_Mutation_p.A609V Q7Z7A1 CNTRL_HUMAN centriolin 1161 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AGTTCCCAGGCCACCAAGGAC 0.478000 47 6 0 0 1 0 0 CIB3 117286 broad.mit.edu 37 19 16275677 16275677 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:16275677C>T ENST00000269878.4 - 5 443 c.394G>A c.(394-396)Gtg>Atg p.V132M CIB3_ENST00000379859.3_Missense_Mutation_p.V83M|CIB3_ENST00000541493.1_5'UTR NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 132 EF-hand 2. calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 AGTTTGGTCACCGTCTGCTCC 0.602000 90 142 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50950946 50950946 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:50950946G>A ENST00000374103.4 - 15 2025 c.1940C>T c.(1939-1941)gCc>gTc p.A647V OGDHL_ENST00000432695.1_Missense_Mutation_p.A438V|OGDHL_ENST00000419399.1_Missense_Mutation_p.A590V NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 647 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGAGCCAAAGGCCATGTACTC 0.642000 35 31 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111955450 111955450 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:111955450C>T ENST00000218789.5 + 21 2605 c.2108C>T c.(2107-2109)aCc>aTc p.T703I ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T644I|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T719I|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T729I|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T644I Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 0 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TGGGATGAGACCAATCTATAA 0.512000 10 13 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145012363 145012363 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:145012363G>A ENST00000322810.4 - 3 800 c.631C>T c.(631-633)Cac>Tac p.H211Y PLEC_ENST00000345136.3_Missense_Mutation_p.H74Y|PLEC_ENST00000436759.2_Missense_Mutation_p.H101Y|PLEC_ENST00000356346.3_Missense_Mutation_p.H60Y|PLEC_ENST00000357649.2_Missense_Mutation_p.H78Y|PLEC_ENST00000354589.3_Missense_Mutation_p.H74Y|PLEC_ENST00000398774.2_Missense_Mutation_p.H42Y|PLEC_ENST00000354958.2_Missense_Mutation_p.H52Y|PLEC_ENST00000527096.1_Missense_Mutation_p.H101Y NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 211 Actin-binding.|CH 1.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ATGAGGTTGTGGCCATCGCGG 0.682000 9 42 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140409855 140409855 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:140409855G>A ENST00000286349.3 + 4 2097 c.1906G>A c.(1906-1908)Gaa>Aaa p.E636K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 636 Fibronectin type-III. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTTGAGATGGAATTCTATGA 0.418000 28 89 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37032697 37032697 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:37032697G>A ENST00000379242.3 + 14 1581 c.1279G>A c.(1279-1281)Gag>Aag p.E427K VIT_ENST00000401530.1_Missense_Mutation_p.E391K|VIT_ENST00000497382.1_Missense_Mutation_p.E81K|VIT_ENST00000379241.3_Missense_Mutation_p.E390K|VIT_ENST00000404084.1_Missense_Mutation_p.E364K|VIT_ENST00000389975.3_Missense_Mutation_p.E412K NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 412 VWFA 1. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CAAAGTGGAGGAGGCTTCAAG 0.498000 53 129 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978181 247978181 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:247978181G>A ENST00000357627.1 - 1 850 c.851C>T c.(850-852)cCc>cTc p.P284L NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GTATATAATGGGATTAAAGGT 0.403000 20 24 0 0 1 0 0 PLD3 23646 broad.mit.edu 37 19 40873681 40873681 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:40873681C>T ENST00000409587.1 + 6 721 c.324C>T c.(322-324)gcC>gcT p.A108A PLD3_ENST00000356508.5_Silent_p.A108A|PLD3_ENST00000409281.1_Silent_p.A108A|PLD3_ENST00000409735.4_Silent_p.A108A|PLD3_ENST00000409419.1_Silent_p.A108A Q8IV08 PLD3_HUMAN phospholipase D family, member 3 108 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) CCAGCCAGGCCTGGCTGGGCC 0.652000 26 41 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539964 133539964 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:133539964C>T ENST00000409261.1 - 14 4793 c.4420G>A c.(4420-4422)Gaa>Aaa p.E1474K NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1474K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1474 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ATGACCTTTTCTTCGATTGTG 0.507000 35 31 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96101487 96101487 + Silent SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:96101487T>A ENST00000371361.3 - 14 1687 c.1587A>T c.(1585-1587)atA>atT p.I529I NOC3L_ENST00000543788.1_Silent_p.I267I|NOC3L_ENST00000371350.1_Silent_p.I529I NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 529 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) ATTCCACATTTATAAGGTGAG 0.274000 16 38 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138423 126138423 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:126138423G>A ENST00000299308.3 + 9 2412 c.2404G>A c.(2404-2406)Gat>Aat p.D802N TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314N NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 802 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGGCAGCAATGATATTGAGGG 0.473000 40 27 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179439960 179439960 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179439960C>T ENST00000589042.1 - 326 71123 c.70899G>A c.(70897-70899)ctG>ctA p.L23633L TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.L14760L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L14693L|TTN_ENST00000342992.6_Silent_p.L21065L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.L14568L|TTN_ENST00000591111.1_Silent_p.L21992L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21992 Fibronectin type-III 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACGGAGATCCAGCTCTGGAA 0.507000 8 20 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156351701 156351701 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:156351701G>A ENST00000400992.2 + 6 1217 c.849G>A c.(847-849)ggG>ggA p.G283G RHBG_ENST00000537040.1_Silent_p.G153G|RHBG_ENST00000368249.1_Silent_p.G315G|RHBG_ENST00000255013.3_Silent_p.G246G|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000368246.2_Silent_p.G315G Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 315 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) TCTTGGCTGGGACTGTCTCCA 0.562000 71 59 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8141772 8141772 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:8141772C>T ENST00000315684.8 - 3 380 c.373G>A c.(373-375)Gaa>Aaa p.E125K CTC1_ENST00000581671.1_5'UTR NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 125 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CACTCTTGTTCCAAGTCTGCC 0.542000 114 84 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23405551 23405551 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:23405551C>G ENST00000400181.4 + 17 2040 c.1936C>G c.(1936-1938)Ctc>Gtc p.L646V KDM1A_ENST00000542151.1_Missense_Mutation_p.L646V|KDM1A_ENST00000356634.3_Missense_Mutation_p.L622V|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 622 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 CGACGCAGTTCTCTGTACCCT 0.517000 42 139 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329301 56329301 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:56329301A>G ENST00000443188.1 - 4 950 c.240T>C c.(238-240)gaT>gaC p.D80D NLRP11_ENST00000589824.2_Silent_p.D80D|NLRP11_ENST00000360133.3_Silent_p.D80D|NLRP11_ENST00000589093.1_Silent_p.D80D|NLRP11_ENST00000592953.1_Intron NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 80 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCCTACAAAGATCTTCCTTAC 0.458000 60 80 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124567266 124567266 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:124567266C>T ENST00000296181.4 - 4 797 c.501G>A c.(499-501)gaG>gaA p.E167E ITGB5_ENST00000488466.1_5'UTR NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 167 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) GCTTCCTCATCTCCTCCGCGA 0.527000 44 142 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779300 31779300 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:31779300G>A ENST00000375654.4 - 2 639 c.450C>T c.(448-450)gcC>gcT p.A150A HSPA1L_ENST00000417199.3_Silent_p.A150A NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 150 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CATTGAAATAGGCTGGCACGG 0.488000 28 51 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27209606 27209606 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:27209606G>A ENST00000394906.2 - 7 692 c.615C>T c.(613-615)ctC>ctT p.L205L FLOT2_ENST00000585169.1_Silent_p.L150L|FLOT2_ENST00000394908.4_Silent_p.L150L|FLOT2_ENST00000577789.1_5'UTR Q14254 FLOT2_HUMAN flotillin 2 150 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) TGGTGAAGCTGAGGATCTCAA 0.577000 109 98 0 0 1 0 0 LRIG3 121227 broad.mit.edu 37 12 59308076 59308076 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:59308076G>A ENST00000320743.3 - 2 564 c.278C>T c.(277-279)tCc>tTc p.S93F LRIG3_ENST00000379141.4_Missense_Mutation_p.S33F NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 93 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GTGGCTCATGGAACTTGCCTT 0.323000 T ROS1 NSCLC 76 21 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43343978 43343978 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:43343978G>A ENST00000344686.2 - 0 2609 MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TCGAGCCTCGGCCTGGCTGCT 0.607000 79 110 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24896233 24896233 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:24896233C>T ENST00000326010.5 + 2 607 c.263C>T c.(262-264)cCt>cTt p.P88L UPB1_ENST00000382760.2_Missense_Mutation_p.P88L|UPB1_ENST00000413389.2_Intron NM_016327.2 NP_057411.1 Q9UBR1 BUP1_HUMAN ureidopropionase, beta 88 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GCAAATGCCCCTGTGGCAGAA 0.577000 30 60 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579076 82579076 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:82579076C>T ENST00000423517.2 - 6 11165 c.10828G>A c.(10828-10830)Gta>Ata p.V3610I PCLO_ENST00000333891.8_Missense_Mutation_p.V3610I|PCLO_ENST00000437081.1_Missense_Mutation_p.V330I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3541 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCCAGCTGTACTGTGGAATCT 0.488000 23 56 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167254736 167254736 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:167254736C>T ENST00000308378.3 - 7 1125 c.820G>A c.(820-822)Gaa>Aaa p.E274K WDR49_ENST00000453925.2_Missense_Mutation_p.E338K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.E99K NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 274 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TTCCATTCTTCAGGCTGGATG 0.388000 23 19 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44384217 44384217 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:44384217C>T ENST00000587539.1 - 2 80 c.81G>A c.(79-81)caG>caA p.Q27Q ZNF404_ENST00000324394.6_Silent_p.Q25Q NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) ACAAATCCCTCTGATCCGAGT 0.383000 27 142 0 0 1 0 0 FAM181A 90050 broad.mit.edu 37 14 94395279 94395279 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:94395279C>T ENST00000267594.5 + 3 1141 c.834C>T c.(832-834)ttC>ttT p.F278F FAM181A_ENST00000556222.1_Silent_p.F216F|FAM181A_ENST00000557719.1_Silent_p.F216F|FAM181A_ENST00000557000.2_Silent_p.F216F NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 278 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GCTGCCCCTTCCAGTACCATG 0.642000 30 4 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13613109 13613109 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:13613109G>A ENST00000404922.3 + 2 1373 c.1254G>A c.(1252-1254)gaG>gaA p.E418E FBLN2_ENST00000535798.1_Silent_p.E444E|FBLN2_ENST00000295760.7_Silent_p.E418E|FBLN2_ENST00000492059.1_Silent_p.E418E NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 418 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCCACGTGGAGGAGGACACAG 0.582000 24 52 0 0 1 0 0 PARVA 55742 broad.mit.edu 37 11 12534911 12534911 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:12534911G>A ENST00000538608.1 + 9 779 c.643G>A c.(643-645)Gga>Aga p.G215R PARVA_ENST00000334956.8_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000539723.1_Intron Q9NVD7 PARVA_HUMAN parvin, alpha 171 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) GAAAAAGGTGGGAAAGGGGTG 0.522000 25 153 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105815148 105815148 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:105815148C>T ENST00000353479.5 - 19 1989 c.1699G>A c.(1699-1701)Gga>Aga p.G567R COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.G567R NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 567 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CCAGGGCTTCCTCGGAGATTT 0.458000 36 75 0 0 1 0 0 SLC52A2 79581 broad.mit.edu 37 8 145583692 145583692 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:145583692C>T ENST00000532887.1 + 3 1123 c.540C>T c.(538-540)acC>acT p.T180T SLC52A2_ENST00000402965.1_Silent_p.T180T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000329994.2_Silent_p.T180T|SLC52A2_ENST00000530047.1_Silent_p.T180T|SLC52A2_ENST00000527078.1_Silent_p.T180T|SLC52A2_ENST00000540505.1_Silent_p.T92T Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 180 integral to plasma membrane receptor activity|riboflavin transporter activity TCAACGGCACCCCTGGCCCCC 0.672000 92 50 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881634 26881634 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:26881634C>T ENST00000231021.4 - 12 2153 c.1981G>A c.(1981-1983)Gat>Aat p.D661N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 661 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D661Y(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CCGCCTTCATCGTTGTAGGTC 0.438000 51 66 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38947606 38947606 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:38947606C>T ENST00000487273.2 + 19 2187 c.2109C>T c.(2107-2109)ttC>ttT p.F703F NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 703 activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TGGTCTTCTTCTTCCTAATTG 0.378000 46 112 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66725339 66725339 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:66725339G>T ENST00000247815.4 + 12 3135 c.3076G>T c.(3076-3078)Gat>Tat p.D1026Y NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 1026 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TGATGGAGTAGATACAGATGA 0.438000 68 64 1.15062e-32 1.17692e-32 1 1 0 TRANK1 9881 broad.mit.edu 37 3 36896953 36896953 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:36896953C>T ENST00000301807.6 - 12 4375 c.2478G>A c.(2476-2478)agG>agA p.R826R TRANK1_ENST00000428977.2_Silent_p.R826R|TRANK1_ENST00000429976.2_Silent_p.R1376R NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1376 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCTTCGACAGCCTCCGGGATA 0.502000 79 122 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71952944 71952944 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:71952944G>A ENST00000355327.3 + 8 1362 c.1228G>A c.(1228-1230)Ggc>Agc p.G410S THSD4_ENST00000261862.6_Missense_Mutation_p.G410S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.G50S Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 410 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGACAACACGGGCTGTCAGGT 0.532000 136 146 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93773739 93773739 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:93773739C>T ENST00000265990.6 + 32 4845 c.4537C>T c.(4537-4539)Cca>Tca p.P1513S BTAF1_ENST00000544642.1_Missense_Mutation_p.P341S NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1513 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) GCAGGATCTTCCACCTAAAAT 0.368000 30 106 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52539755 52539755 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:52539755G>A ENST00000321725.6 + 15 1729 c.1653G>A c.(1651-1653)gtG>gtA p.V551V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 551 FAS1 2. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ATGAGGCTGTGGACAGCTTGC 0.647000 69 106 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9000146 9000146 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9000146C>T ENST00000397910.4 - 55 40814 c.e55+1 MUC16_ENST00000380951.5_Splice_Site NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCAGTTCTCACCTGAGCAAGG 0.577000 67 76 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30516734 30516734 + Nonsense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:30516734G>T ENST00000356798.6 + 20 2497 c.2317G>T c.(2317-2319)Gag>Tag p.E773* ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.E689* NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 773 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GAACTGTGGGGAGGACAAGAA 0.527000 151 34 2.283e-98 2.36522e-98 1 1 0 OSGIN1 29948 broad.mit.edu 37 16 83991322 83991322 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:83991322C>T ENST00000343939.2 + 3 678 c.295C>T c.(295-297)Ccc>Tcc p.P99S OSGIN1_ENST00000565123.1_Missense_Mutation_p.P16S|OSGIN1_ENST00000361711.3_Missense_Mutation_p.P16S|OSGIN1_ENST00000393306.1_Missense_Mutation_p.P16S Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 99 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 CAGCTCAGAGCCCCTCCCGGT 0.697000 18 2 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9974647 9974647 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:9974647G>A ENST00000295981.3 + 19 1964 c.1746G>A c.(1744-1746)agG>agA p.R582R IL17RC_ENST00000455057.1_Silent_p.R479R|IL17RC_ENST00000383812.4_Silent_p.R496R|IL17RC_ENST00000416074.2_Silent_p.R337R|IL17RC_ENST00000403601.3_Silent_p.R511R|IL17RC_ENST00000413608.1_Silent_p.R498R|IL17RC_ENST00000498214.1_3'UTR NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 582 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CGGCCGCCAGGGGCCGCGCGG 0.736000 OREG0015383 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 29 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706317 96706317 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:96706317G>A ENST00000389672.5 + 3 632 c.594G>A c.(592-594)atG>atA p.M198I EPHA6_ENST00000470610.2_Missense_Mutation_p.M198I|EPHA6_ENST00000542517.1_Missense_Mutation_p.M104I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 103 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 ATGTGGAAATGAAATTCACAC 0.403000 19 45 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230807279 230807279 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:230807279T>A ENST00000534989.1 + 8 950 c.615T>A c.(613-615)ttT>ttA p.F205L COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Missense_Mutation_p.F148L|COG2_ENST00000366668.3_Missense_Mutation_p.F264L|COG2_ENST00000366669.4_Missense_Mutation_p.F264L Q14746 COG2_HUMAN component of oligomeric golgi complex 2 264 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TAGAGCAGTTTGTTGAATCTC 0.358000 21 36 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141535834 141535834 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:141535834G>A ENST00000264952.2 + 4 1741 c.1604G>A c.(1603-1605)aGa>aAa p.R535K NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 535 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 GACCCCAACAGACCTACGGGT 0.463000 72 194 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3129526 3129526 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:3129526G>A ENST00000380266.3 - 2 512 c.191C>T c.(190-192)tCt>tTt p.S64F UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 64 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 TCTCCGAGAAGAGAAGGTGCT 0.512000 51 40 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733041 152733041 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:152733041G>A ENST00000368773.1 + 2 1035 c.977G>A c.(976-978)cGa>cAa p.R326Q KPRP_ENST00000606109.1_Missense_Mutation_p.R326Q NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 326 Pro-rich. cytoplasm p.R326Q(1) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCAAGTGCCGAATCGAGATT 0.617000 26 64 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59485716 59485716 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:59485716C>T ENST00000240328.3 + 7 2269 c.1988C>T c.(1987-1989)gCt>gTt p.A663V RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 663 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 CCCGAGCTGGCTCTCCGCAAA 0.677000 7 10 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8738697 8738697 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:8738697G>A ENST00000311434.9 - 8 777 c.538C>T c.(538-540)Cag>Tag p.Q180* PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 180 platelet activation cytosol TGCTGCGCCTGGGCCGCCTCG 0.647000 18 28 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18702887 18702887 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:18702887C>T ENST00000251296.1 + 7 1482 c.1099C>T c.(1099-1101)Cag>Tag p.Q367* IGSF21_ENST00000473951.1_3'UTR NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 367 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCATGGGTTTCAGGTCAGCCT 0.577000 72 190 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424116 125424116 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:125424116G>A ENST00000373686.1 + 1 272 c.272G>A c.(271-273)gGa>gAa p.G91E Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 ACAGTGATAGGAAACCTGCTT 0.493000 41 3 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30632944 30632944 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:30632944G>A ENST00000376442.3 - 6 1224 c.1029C>T c.(1027-1029)gcC>gcT p.A343A NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 343 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CAGCATCTCGGGCCCCAAACT 0.627000 18 28 0 0 1 0 0 PIAS4 51588 broad.mit.edu 37 19 4024062 4024062 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:4024062G>A ENST00000262971.2 + 3 598 c.483G>A c.(481-483)gaG>gaA p.E161E PIAS4_ENST00000596144.1_3'UTR NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 161 PINIT. positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTTCAGGAGAGCCCGTGCA 0.637000 37 150 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 597479 597479 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:597479C>T ENST00000219611.2 + 4 1004 c.641C>T c.(640-642)cCa>cTa p.P214L LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 GCCAACCCCCCAGCCACCAGC 0.746000 23 5 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133627324 133627324 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:133627324C>T ENST00000519595.1 - 8 1032 c.934G>A c.(934-936)Gat>Aat p.D312N LRRC6_ENST00000518642.1_Missense_Mutation_p.D312N|LRRC6_ENST00000250173.1_Missense_Mutation_p.D312N Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 312 CS. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTTCGTTATCTTTCAAAGAG 0.333000 19 51 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83839611 83839611 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:83839611T>C ENST00000302236.5 + 5 2297 c.2246T>C c.(2245-2247)aTt>aCt p.I749T LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 749 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) GCCTCTAAAATTGGGTCACTA 0.378000 32 39 0 0 1 0 0 APOO 79135 broad.mit.edu 37 X 23899059 23899059 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:23899059C>T ENST00000379226.4 - 2 251 c.20G>A c.(19-21)aGg>aAg p.R7K APOO_ENST00000379220.3_Missense_Mutation_p.R7K NM_024122.4 NP_077027.1 Q9BUR5 APOO_HUMAN apolipoprotein O 7 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1) 9 CCCCACGGACCTCTGAATTAC 0.478000 36 6 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104160129 104160129 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:104160129G>A ENST00000369966.3 + 16 1929 c.1679G>A c.(1678-1680)gGa>gAa p.G560E NFKB2_ENST00000189444.6_Missense_Mutation_p.G560E|NFKB2_ENST00000428099.1_Missense_Mutation_p.G560E NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 560 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) GATCGGCATGGAGACTCAGCC 0.657000 T IGH@ B-NHL 36 78 0 0 1 0 0 GRAMD4 23151 broad.mit.edu 37 22 47064588 47064588 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:47064588C>T ENST00000406902.1 + 12 1146 c.933C>T c.(931-933)aaC>aaT p.N311N GRAMD4_ENST00000361034.3_Silent_p.N311N Q6IC98 GRAM4_HUMAN GRAM domain containing 4 311 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) TCACACAGAACCTTTTCGGGA 0.652000 56 192 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97053792 97053792 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:97053792G>A ENST00000326771.2 + 5 729 c.349G>A c.(349-351)Gaa>Aaa p.E117K FHL5_ENST00000541107.1_Missense_Mutation_p.E117K NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 117 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CCGCAAAATGGAATTTAAGGG 0.363000 34 17 0 0 1 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864607 22864607 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:22864607C>T ENST00000251822.6 + 5 1386 c.849C>T c.(847-849)atC>atT p.I283I RHOBTB2_ENST00000522948.1_Silent_p.I290I|RHOBTB2_ENST00000519685.1_Silent_p.I305I|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 283 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCCACAAGATCTACCTCTCCA 0.662000 147 133 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752382 36752382 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:36752382C>T ENST00000354618.5 + 4 775 c.551C>T c.(550-552)tCt>tTt p.S184F THRAP3_ENST00000469141.2_Missense_Mutation_p.S184F NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 184 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAGTCCTCTTCTAAGGATAGC 0.527000 T USP6 aneurysmal bone cysts 65 199 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 56032809 56032809 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:56032809G>A ENST00000389286.4 - 2 215 c.168C>T c.(166-168)gtC>gtT p.V56V PRTG_ENST00000561292.1_Silent_p.V56V NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 56 Ig-like 1. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AATCTAAAACGACTGGGTCCT 0.408000 80 102 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89401192 89401192 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:89401192C>T ENST00000439576.2 + 12 5750 c.5376C>T c.(5374-5376)gtC>gtT p.V1792V ACAN_ENST00000559004.1_Silent_p.V1792V|ACAN_ENST00000352105.7_Silent_p.V1792V|ACAN_ENST00000561243.1_Silent_p.V1792V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1792 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CATCTGGGGTCCCTGATCTCA 0.527000 23 30 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71334792 71334792 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:71334792G>A ENST00000392650.3 - 45 6453 c.6453C>T c.(6451-6453)taC>taT p.Y2151Y SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.Y2132Y NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2151 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGGGGGACGGTAGAGGGTGC 0.602000 20 20 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108475997 108475997 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:108475997G>A ENST00000295755.6 - 1 234 c.36C>T c.(34-36)atC>atT p.I12I NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 12 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GGAGAAGGGGGATTAGGATGA 0.507000 15 47 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7696447 7696447 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:7696447C>T ENST00000572933.1 + 48 8953 c.7493C>T c.(7492-7494)cCc>cTc p.P2498L DNAH2_ENST00000389173.2_Missense_Mutation_p.P2498L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2498 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCCCAGCCACCCCTGGAGCTG 0.517000 72 63 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53986293 53986293 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:53986293C>T ENST00000514921.1 + 2 225 c.112C>T c.(112-114)Ccc>Tcc p.P38S MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.P38S|MLIP_ENST00000358276.5_Missense_Mutation_p.P32S|MLIP_ENST00000502396.1_Missense_Mutation_p.P49S|MLIP_ENST00000511744.1_3'UTR Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 38 Interaction with LMNA. nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CACATTTGTCCCCACTGTCAG 0.413000 47 120 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156352044 156352044 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:156352044C>T ENST00000537040.1 + 4 700 c.662C>T c.(661-663)tCt>tTt p.S221F RHBG_ENST00000400992.2_Intron|RHBG_ENST00000368249.1_Intron|RHBG_ENST00000255013.3_Intron|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000494874.1_Intron Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 0 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GGAATGACCTCTGTCATTCTC 0.463000 68 36 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64972383 64972383 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:64972383G>A ENST00000326648.3 + 6 3897 c.e6-1 NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCTTCCACAGGTTCCTACCT 0.517000 86 77 0 0 1 0 0 SMR3B 10879 broad.mit.edu 37 4 71255502 71255502 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:71255502C>T ENST00000304915.3 + 3 326 c.177C>T c.(175-177)atC>atT p.I59I SMR3B_ENST00000504825.1_Silent_p.I59I NM_006685.3 NP_006676.1 submaxillary gland androgen regulated protein 3B large_intestine(2)|lung(3)|skin(2) 7 all_hematologic(202;0.196) CAGGGAGAATCCCACCTCCTC 0.597000 56 111 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176008476 176008476 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:176008476G>A ENST00000510636.1 + 17 2225 c.1951G>A c.(1951-1953)Gag>Aag p.E651K CDHR2_ENST00000261944.5_Missense_Mutation_p.E651K|CDHR2_ENST00000506348.1_Missense_Mutation_p.E651K NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 651 Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCTGGACAGAGAGGCCATCGA 0.622000 43 36 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 5 296 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48314082 48314082 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:48314082A>G ENST00000435803.1 + 17 4843 c.4819A>G c.(4819-4821)Agc>Ggc p.S1607G NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1607 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCTTGCCTTCAGCTTATCTCA 0.348000 26 123 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31038981 31038981 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:31038981C>T ENST00000355537.3 + 4 2602 c.2455C>T c.(2455-2457)Caa>Taa p.Q819* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 819 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACCCCCAAATCAAGACCACAA 0.567000 69 108 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 41015685 41015685 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:41015685G>A ENST00000295974.8 - 6 1379 c.750C>T c.(748-750)atC>atT p.I250I APBB2_ENST00000513140.1_Silent_p.I250I|APBB2_ENST00000506352.1_Silent_p.I250I|APBB2_ENST00000508593.1_Silent_p.I250I NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 250 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding p.I250I(1) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CCAGGTTCTGGATCCGGTGCA 0.587000 328 266 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100192755 100192755 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:100192755C>T ENST00000241071.6 + 7 1305 c.983C>T c.(982-984)aCc>aTc p.T328I FBXO24_ENST00000465843.1_Intron|FBXO24_ENST00000427939.2_Missense_Mutation_p.T366I|FBXO24_ENST00000360609.2_Intron|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.T316I|PCOLCE-AS1_ENST00000544873.1_RNA NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 328 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GAGGTGCATACCCCAGGGGTG 0.607000 43 107 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242373707 242373707 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:242373707C>T ENST00000264042.3 + 10 1172 c.1002C>T c.(1000-1002)ttC>ttT p.F334F FARP2_ENST00000545004.1_Silent_p.F334F|FARP2_ENST00000373287.4_Silent_p.F334F NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 334 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) AAGCCGTCTTCTTCAGCCGGG 0.468000 49 44 0 0 1 0 0 CNDP2 55748 broad.mit.edu 37 18 72186208 72186208 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:72186208C>T ENST00000324262.4 + 11 1551 c.1235C>T c.(1234-1236)aCc>aTc p.T412I CNDP2_ENST00000579847.1_Missense_Mutation_p.T412I|CNDP2_ENST00000324301.8_Missense_Mutation_p.T328I NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 412 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CCAGACTTGACCAGGGAAGGC 0.557000 49 148 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202484 39202484 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:39202484G>A ENST00000351578.6 - 2 769 c.579C>T c.(577-579)ttC>ttT p.F193F FYB_ENST00000505428.1_Silent_p.F193F|FYB_ENST00000515010.1_Silent_p.F193F|FYB_ENST00000540520.1_Silent_p.F203F|FYB_ENST00000512982.1_Silent_p.F193F NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 193 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CGGGTTTGGGGAAGAGGGGCT 0.493000 33 42 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61096997 61096997 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:61096997C>T ENST00000301764.7 - 4 784 c.387G>A c.(385-387)cgG>cgA p.R129R DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 129 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GGCCAATCATCCGGCACTCAG 0.512000 Nucleotide excision repair (NER) 22 30 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104461797 104461797 + Nonsense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:104461797G>T ENST00000229330.4 + 3 489 c.385G>T c.(385-387)Gga>Tga p.G129* NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 129 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTCGGCTTGGACATAGCTT 0.423000 39 125 7.40236e-40 7.60536e-40 1 1 0 CEP152 22995 broad.mit.edu 37 15 49064872 49064872 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:49064872C>T ENST00000380950.2 - 13 1781 c.1594G>A c.(1594-1596)Gac>Aac p.D532N CEP152_ENST00000325747.5_Missense_Mutation_p.D439N|CEP152_ENST00000399334.3_Missense_Mutation_p.D532N|CEP152_ENST00000559398.1_5'UTR NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 532 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TCATTTGGGTCTTCTTCTTGT 0.378000 12 61 0 0 1 0 0 AADAT 51166 broad.mit.edu 37 4 171009587 171009587 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:171009587C>T ENST00000337664.4 - 2 472 c.196G>A c.(196-198)Gag>Aag p.E66K AADAT_ENST00000509167.1_Missense_Mutation_p.E70K|AADAT_ENST00000515480.1_Missense_Mutation_p.E66K|AADAT_ENST00000353187.2_Missense_Mutation_p.E66K NM_016228.3 NP_057312.1 Q8N5Z0 AADAT_HUMAN aminoadipate aminotransferase 66 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1) 11 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTCATCATCTCTTCTCCAAAT 0.373000 56 63 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45518006 45518006 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:45518006C>T ENST00000415258.1 + 9 1046 c.905C>T c.(904-906)aCc>aTc p.T302I LARS2_ENST00000414984.1_Missense_Mutation_p.T259I|LARS2_ENST00000265537.3_Missense_Mutation_p.T302I Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 302 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) TATACGGCCACCCCTGAAGCC 0.562000 79 121 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38889190 38889190 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:38889190G>A ENST00000450244.1 - 26 4569 c.4371C>T c.(4369-4371)ttC>ttT p.F1457F SCN11A_ENST00000456224.3_Silent_p.F1419F|SCN11A_ENST00000302328.3_Silent_p.F1457F Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1457 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCGTCGGAGGGAAAGGAATGT 0.493000 20 26 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96495102 96495102 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:96495102G>A ENST00000285979.6 + 9 1573 c.1374G>A c.(1372-1374)ctG>ctA p.L458L CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Silent_p.L399L NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) ACTTTAACCTGAAATCTCAGG 0.468000 63 66 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43420636 43420636 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:43420636G>A ENST00000187910.2 - 2 133 c.68C>T c.(67-69)tCa>tTa p.S23L PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000402603.4_Missense_Mutation_p.S23L|PSG6_ENST00000292125.2_Missense_Mutation_p.S23L NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GTTTAAAAGTGATGCTAGGAG 0.468000 110 135 0 0 1 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806654 6806654 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:6806654C>T ENST00000307401.4 + 1 407 c.386C>T c.(385-387)cCt>cTt p.P129L NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATTTGTCATCCTCTGACATAC 0.537000 24 59 0 0 1 0 0 PTRH2 51651 broad.mit.edu 37 17 57774865 57774865 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:57774865G>A ENST00000470557.2 - 1 3921 c.475C>T c.(475-477)Cta>Tta p.L159L PTRH2_ENST00000537860.1_Silent_p.L159L|PTRH2_ENST00000409433.2_Silent_p.L160L|PTRH2_ENST00000393038.2_Silent_p.L159L Q9Y3E5 PTH2_HUMAN peptidyl-tRNA hydrolase 2 159 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity large_intestine(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CCAATCCCTAGGACAGTTTGA 0.458000 39 50 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112085529 112085529 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:112085529G>A ENST00000357685.5 + 10 1512 c.1377G>A c.(1375-1377)aaG>aaA p.K459K BCO2_ENST00000531169.1_Silent_p.K425K|BCO2_ENST00000361053.4_Silent_p.K386K|BCO2_ENST00000526088.1_Silent_p.K425K|BCO2_ENST00000532593.1_Silent_p.K354K|BCO2_ENST00000393032.2_Silent_p.K425K|BCO2_ENST00000438022.1_Silent_p.K425K Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 459 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 ACCTAGAAAAGGAAGGAGGCA 0.378000 48 45 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25783883 25783883 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:25783883G>A ENST00000319524.6 + 1 214 c.214G>A c.(214-216)Gag>Aag p.E72K KSR1_ENST00000509603.2_Missense_Mutation_p.E72K Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 70 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CACCCAGCAGGAGATACGGAC 0.682000 17 56 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22247572 22247572 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:22247572C>G ENST00000324559.8 + 6 654 c.337C>G c.(337-339)Ctt>Gtt p.L113V NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 113 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AAAAACAGGTCTTGAGTTGGA 0.323000 9 22 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31027130 31027130 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:31027130C>T ENST00000399914.1 - 5 1301 c.780_splice c.e5+1 p.L260_splice GRIK1_ENST00000399913.1_Splice_Site_p.L260_splice|GRIK1_ENST00000389125.3_Splice_Site_p.L260_splice|GRIK1_ENST00000327783.4_Splice_Site_p.L260_splice|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Splice_Site_p.L260_splice|GRIK1_ENST00000399907.1_Splice_Site_p.L260_splice|GRIK1_ENST00000309434.7_Splice_Site_p.L260_splice|GRIK1_ENST00000535441.1_Splice_Site_p.L260_splice|GRIK1_ENST00000399909.1_Splice_Site_p.L260_splice P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 260 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) ATGCACTTACCAGGGTTGTGA 0.413000 120 105 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3381966 3381966 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:3381966T>G ENST00000589123.1 + 2 380 c.260T>G c.(259-261)aTc>aGc p.I87S NFIC_ENST00000586919.1_Missense_Mutation_p.I87S|NFIC_ENST00000590282.1_Missense_Mutation_p.I96S|NFIC_ENST00000443272.2_Missense_Mutation_p.I96S|NFIC_ENST00000395111.3_Missense_Mutation_p.I87S|NFIC_ENST00000341919.3_Missense_Mutation_p.I96S|NFIC_ENST00000346156.5_Missense_Mutation_p.I87S NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 96 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GTGCTGAGCATCACCGGCAAG 0.682000 112 150 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21551913 21551913 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:21551913C>T ENST00000415912.2 - 17 1947 c.1822G>A c.(1822-1824)Ggg>Agg p.G608R ECE1_ENST00000436918.2_Missense_Mutation_p.G624R|ECE1_ENST00000374893.6_Missense_Mutation_p.G624R|ECE1_ENST00000357071.4_Missense_Mutation_p.G612R|ECE1_ENST00000264205.6_Missense_Mutation_p.G621R NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 624 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CGGAGGTTCCCGTCCTTGTCA 0.612000 19 66 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121430231 121430231 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:121430231G>A ENST00000260197.7 + 21 3043 c.2914G>A c.(2914-2916)Gaa>Aaa p.E972K NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 972 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTTTTAGAATGAAATCTACTG 0.468000 30 30 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21954063 21954063 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:21954063C>T ENST00000261200.4 - 38 4564 c.4565G>A c.(4564-4566)gGa>gAa p.G1522E NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1522 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.G1522E(1) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAAAATATTTCCTCGCTTCAT 0.408000 28 44 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389691 48389691 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:48389691G>A ENST00000224600.4 - 1 1300 c.1187C>T c.(1186-1188)cCt>cTt p.P396L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 396 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGGCCAAGAAGGAGTTTCTGT 0.647000 16 51 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65489678 65489678 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:65489678C>T ENST00000261883.4 - 9 3112 c.2946G>A c.(2944-2946)ggG>ggA p.G982G NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 982 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CATACAGCTTCCCCACTGTCT 0.557000 75 99 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36640161 36640161 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:36640161G>A ENST00000373448.2 - 3 2296 c.2058C>T c.(2056-2058)tcC>tcT p.S686S TTI1_ENST00000449821.1_Silent_p.S686S|TTI1_ENST00000373447.3_Silent_p.S686S NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 686 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 GGTGCTGCAGGGAGTCGTAGC 0.488000 38 64 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79945341 79945341 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:79945341G>A ENST00000373275.4 - 33 3949 c.3733C>T c.(3733-3735)Cag>Tag p.Q1245* BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1245 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GTACAGCTCTGATCCCTAAGA 0.284000 11 0 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709278 176709278 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:176709278C>T ENST00000367662.3 + 14 5261 c.4097C>T c.(4096-4098)tCg>tTg p.S1366L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1366 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATTGGTCTTTCGGCTCCCAGT 0.512000 21 54 0 0 1 0 0 BUD31 8896 broad.mit.edu 37 7 99008806 99008806 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:99008806G>A ENST00000403633.2 + 3 620 c.91G>A c.(91-93)Gaa>Aaa p.E31K BUD31_ENST00000222969.5_Missense_Mutation_p.E31K|BUD31_ENST00000456893.1_Missense_Mutation_p.E31K P41223 BUD31_HUMAN BUD31 homolog (S. cerevisiae) 31 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1) 4 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AAAGATGAGAGAAGGTGAGTA 0.493000 30 24 0 0 1 0 0 ZIK1 284307 broad.mit.edu 37 19 58101723 58101723 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:58101723C>T ENST00000597850.1 + 4 759 c.544C>T c.(544-546)Ctt>Ttt p.L182F ZIK1_ENST00000536878.2_Missense_Mutation_p.L169F|ZIK1_ENST00000599456.1_Missense_Mutation_p.L127F|ZIK1_ENST00000307468.4_3'UTR NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CATGTTGCGGCTTCTGAGGTC 0.493000 49 65 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38102879 38102879 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:38102879A>C ENST00000592533.1 + 5 1030 c.698A>C c.(697-699)cAt>cCt p.H233P ZNF540_ENST00000589117.1_Missense_Mutation_p.H201P|ZNF540_ENST00000316433.4_Missense_Mutation_p.H233P|ZNF540_ENST00000343599.5_Missense_Mutation_p.H233P NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTACTCTGCATCAGAGATTT 0.363000 17 35 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036443 32036443 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:32036443G>A ENST00000375244.3 - 17 6145 c.5944C>T c.(5944-5946)Ccc>Tcc p.P1982S TNXB_ENST00000375247.2_Missense_Mutation_p.P1982S P22105 TENX_HUMAN tenascin XB 2064 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGGGCTCGGGGGTTGCGGTG 0.632000 73 113 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 94612 94612 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:94612C>T ENST00000332708.5 - 2 141 c.111G>A c.(109-111)tgG>tgA p.W37* TUBB8_ENST00000309812.4_Missense_Mutation_p.D74N|TUBB8_ENST00000447903.2_Missense_Mutation_p.D2N|TUBB8_ENST00000413237.3_5'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 351 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CGCACAGAGTCCATGGTGCCC 0.697000 42 26 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140058344 140058344 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:140058344G>A ENST00000371561.3 + 18 3674 c.2577G>A c.(2575-2577)cgG>cgA p.R859R GRIN1_ENST00000371550.4_Silent_p.R859R|GRIN1_ENST00000350902.5_Silent_p.R859R|GRIN1_ENST00000371555.4_Silent_p.R880R|GRIN1_ENST00000371560.3_Silent_p.R880R|GRIN1_ENST00000371546.4_Silent_p.R880R|GRIN1_ENST00000371559.4_Silent_p.R859R|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.R859R|GRIN1_ENST00000371553.3_Silent_p.R880R NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 859 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) ACGTGTGGCGGAAGAACCTGC 0.657000 38 7 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71715819 71715819 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:71715819G>C ENST00000393695.3 - 24 6204 c.5873C>G c.(5872-5874)aCt>aGt p.T1958S NUMA1_ENST00000351960.6_Missense_Mutation_p.T822S|NUMA1_ENST00000358965.6_Missense_Mutation_p.T1944S NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1958 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GGGGTCTCCAGTTTTCATCTC 0.607000 T RARA APL 47 58 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52556610 52556610 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:52556610G>A ENST00000321725.6 + 61 6726 c.6650G>A c.(6649-6651)gGc>gAc p.G2217D NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2217 Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCACCAGCGGCCCTTATGGT 0.602000 109 113 0 0 1 0 0 FAM124B 79843 broad.mit.edu 37 2 225266165 225266165 + Nonsense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:225266165A>T ENST00000389874.3 - 1 546 c.321T>A c.(319-321)tgT>tgA p.C107* FAM124B_ENST00000409685.3_Nonsense_Mutation_p.C107*|FAM124B_ENST00000243806.2_Nonsense_Mutation_p.C107* NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 107 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) AAAAGTAGGGACACAGCCTTC 0.592000 26 32 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7528012 7528012 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:7528012C>T ENST00000313599.3 - 11 2923 c.2866G>A c.(2866-2868)Gga>Aga p.G956R CD163L1_ENST00000416109.2_Missense_Mutation_p.G966R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G956R Q9NR16 C163B_HUMAN CD163 molecule-like 1 956 SRCR 9. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTTCTTTCTCCAATATATTTT 0.498000 30 36 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72915871 72915871 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:72915871C>T ENST00000319642.1 - 2 1242 c.1060G>A c.(1060-1062)Gat>Aat p.D354N NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 354 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) AGGCTGTCATCGTCCAGGCTG 0.677000 90 114 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982294 7982294 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:7982294G>A ENST00000328600.2 - 2 1026 c.865C>T c.(865-867)Ctc>Ttc p.L289F NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 289 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTGGTGATGAGAAGGGAGCAC 0.542000 85 110 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49569061 49569061 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:49569061C>T ENST00000545947.1 + 6 1839 c.1117C>T c.(1117-1119)Cga>Tga p.R373* DAG1_ENST00000541308.1_Nonsense_Mutation_p.R373*|DAG1_ENST00000539901.1_Nonsense_Mutation_p.R373*|DAG1_ENST00000515359.2_Nonsense_Mutation_p.R373*|DAG1_ENST00000308775.2_Nonsense_Mutation_p.R373*|DAG1_ENST00000538711.1_Nonsense_Mutation_p.R373* NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 373 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CATCCGGACTCGAGGCGCCAT 0.597000 111 136 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20622860 20622860 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:20622860G>A ENST00000525748.1 + 2 462 c.189G>A c.(187-189)caG>caA p.Q63Q NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 63 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AAACTTTCCAGTCAGCGGACG 0.731000 12 11 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 909270 909270 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:909270G>A ENST00000379409.2 + 13 1678 c.1648G>A c.(1648-1650)Gtg>Atg p.V550M PLEKHN1_ENST00000379407.2_Missense_Mutation_p.V463M|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.V498M Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 550 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACTCCCCTCGGTGCCTGTGTC 0.697000 34 102 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 33673082 33673082 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:33673082C>T ENST00000354992.2 - 15 2608 c.2037G>A c.(2035-2037)tgG>tgA p.W679* LARGE_ENST00000397394.2_Nonsense_Mutation_p.W679*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.W627*|LARGE_ENST00000452586.2_Nonsense_Mutation_p.W478*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.W630*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.W627* NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 679 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) CCACTTTGTTCCAGCCAAAGC 0.557000 37 106 0 0 1 0 0 FCGR1A 2209 broad.mit.edu 37 1 149760129 149760129 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:149760129G>A ENST00000369168.4 + 4 569 c.515G>A c.(514-516)gGa>gAa p.G172E RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) 172 Ig-like C2-type 2. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity p.G172E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 10 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCAGGCATGGGAAAGCATCGC 0.438000 69 128 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54101512 54101512 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:54101512C>T ENST00000404125.1 - 43 5119 c.5064G>A c.(5062-5064)tgG>tgA p.W1688* PSME4_ENST00000476586.1_Intron|PSME4_ENST00000421748.2_Nonsense_Mutation_p.W832* NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1688 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTATAACCAGCCACCTGATAT 0.368000 46 59 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39088946 39088946 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:39088946G>A ENST00000295373.6 - 5 732 c.606C>T c.(604-606)gtC>gtT p.V202V DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 202 UBA. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) ACATCCTCAGGACCGCTTGAC 0.433000 25 46 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5391461 5391461 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:5391461G>A ENST00000399537.4 - 17 5807 c.5459C>T c.(5458-5460)tCg>tTg p.S1820L TNRC18_ENST00000430969.1_Missense_Mutation_p.S1820L O15417 TNC18_HUMAN trinucleotide repeat containing 18 1820 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TTGGTCAAACGATTCCTCCGA 0.577000 11 24 0 0 1 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416246 57416246 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:57416246G>A ENST00000565912.1 + 2 3088 c.382G>A c.(382-384)Ggg>Agg p.G128R CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G172R|CX3CL1_ENST00000006053.6_Missense_Mutation_p.G166R P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 166 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TGGTTCCTCAGGGACCAGGCT 0.672000 39 9 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84562262 84562262 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:84562262C>T ENST00000262753.4 - 11 1216 c.1071G>A c.(1069-1071)atG>atA p.M357I POF1B_ENST00000373145.3_Missense_Mutation_p.M357I NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 357 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TCTCAAGTCTCATCTTGTCAT 0.338000 9 0 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735466 55735466 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:55735466G>A ENST00000312345.2 - 1 524 c.474C>T c.(472-474)ccC>ccT p.P158P NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TTCCGCAAAAGGGCAAAAGGA 0.393000 10 57 0 0 1 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20471157 20471157 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:20471157C>T ENST00000375102.3 + 4 501 c.399C>T c.(397-399)atC>atT p.I133I NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 90 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) ATCACACCATCGAGAACAACA 0.597000 10 34 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95497788 95497788 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:95497788C>T ENST00000432432.2 - 0 1055 NR_040113.1 TTTCCTTTTTCATGCGAAGGT 0.413000 109 139 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43769853 43769853 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:43769853T>A ENST00000263801.3 - 8 1130 c.878A>T c.(877-879)aAg>aTg p.K293M TP53BP1_ENST00000450115.2_Missense_Mutation_p.K298M|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K298M|TP53BP1_ENST00000382044.4_Missense_Mutation_p.K298M NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 293 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTCTGGTGACTTCTGAATCTG 0.443000 Other conserved DNA damage response genes 17 97 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209141445 209141445 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:209141445G>A ENST00000264380.4 + 4 490 c.332G>A c.(331-333)aGg>aAg p.R111K PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R111K|PIKFYVE_ENST00000308862.6_Intron NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 111 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GACACAAGAAGGAAAGCAGAA 0.418000 34 37 0 0 1 0 0 LIG3 3980 broad.mit.edu 37 17 33310184 33310184 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:33310184A>G ENST00000378526.4 + 2 293 c.160A>G c.(160-162)Aag>Gag p.K54E LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.K54E NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 54 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CCTGAGAAGAAAGCCTGTTCT 0.498000 Other BER factors 39 115 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45946486 45946486 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:45946486C>T ENST00000348697.2 + 14 1835 c.1688C>T c.(1687-1689)tCc>tTc p.S563F FBLN1_ENST00000327858.6_Missense_Mutation_p.S563F|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000402984.3_Missense_Mutation_p.S601F|FBLN1_ENST00000262722.7_Missense_Mutation_p.S563F|FBLN1_ENST00000340923.5_Missense_Mutation_p.S563F|FBLN1_ENST00000442170.2_Missense_Mutation_p.S563F P23142 FBLN1_HUMAN fibulin 1 563 EGF-like 9; calcium-binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TACCGCCGCTCCGCAGCCACG 0.612000 37 123 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94527379 94527379 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:94527379G>A ENST00000330836.5 - 4 1408 c.1277C>T c.(1276-1278)tCc>tTc p.S426F DDX24_ENST00000544005.1_Missense_Mutation_p.S176F|DDX24_ENST00000555054.1_Missense_Mutation_p.S383F NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 426 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TTTCTGCGTGGACATTCCACC 0.428000 89 22 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713681 70713681 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:70713681C>T ENST00000530196.1 - 0 837 NR_003951.1 AATACATCCTCTTGCACCTTT 0.388000 52 52 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76803431 76803431 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:76803431C>T ENST00000312010.6 - 14 2019 c.1695G>A c.(1693-1695)ggG>ggA p.G565G USP36_ENST00000542802.2_Silent_p.G565G|USP36_ENST00000449938.2_Silent_p.G265G NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 565 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GCCTTTGGCTCCCAGATCTGC 0.592000 42 41 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205280897 205280897 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:205280897G>A ENST00000367157.3 - 2 414 c.288C>T c.(286-288)caC>caT p.H96H NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 96 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CCCTCCGTATGTGCATCAGAT 0.488000 10 147 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119295648 119295648 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:119295648C>T ENST00000338891.7 - 14 3303 c.2860G>A c.(2860-2862)Gat>Aat p.D954N FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 954 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTATTAAAATCTGCCCGCATG 0.338000 78 64 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74525028 74525028 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:74525028G>A ENST00000422840.2 - 8 1319 c.1320C>T c.(1318-1320)atC>atT p.I440I GLG1_ENST00000205061.5_Silent_p.I440I|GLG1_ENST00000447066.2_Silent_p.I429I NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 440 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 AGCTTAGGATGATCTCAGGGC 0.512000 136 27 0 0 1 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21168679 21168679 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:21168679C>T ENST00000421593.2 + 1 50 c.50C>T c.(49-51)tCt>tTt p.S17F LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 ATATCCTCTTCTCTTGTTGGT 0.303000 12 8 0 0 1 0 0 LRIG3 121227 broad.mit.edu 37 12 59308075 59308075 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:59308075G>A ENST00000320743.3 - 2 565 c.279C>T c.(277-279)tcC>tcT p.S93S LRIG3_ENST00000379141.4_Silent_p.S33S NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 93 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GGTGGCTCATGGAACTTGCCT 0.323000 T ROS1 NSCLC 76 21 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71334793 71334793 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:71334793T>G ENST00000392650.3 - 45 6452 c.6452A>C c.(6451-6453)tAc>tCc p.Y2151S SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.Y2132S NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2151 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GGGGGGACGGTAGAGGGTGCT 0.597000 21 19 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62189441 62189441 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:62189441G>A ENST00000474889.1 + 12 2349 c.1972G>A c.(1972-1974)Gga>Aga p.G658R PTPRG_ENST00000295874.10_Missense_Mutation_p.G658R NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 658 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCAGACGGGCGGAAGGAGGGA 0.647000 13 12 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115964519 115964519 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:115964519A>G ENST00000251864.2 + 10 1317 c.1164A>G c.(1162-1164)gaA>gaG p.E388E TDRD1_ENST00000369282.1_Silent_p.E388E|TDRD1_ENST00000369281.2_Silent_p.E388E|TDRD1_ENST00000369280.1_Silent_p.E388E|TDRD1_ENST00000422662.1_Silent_p.E49E NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 388 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TCCCAGCAGAAGGGAATTGGA 0.358000 33 18 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71165992 71165992 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:71165992G>A ENST00000357585.2 + 2 903 c.534G>A c.(532-534)atG>atA p.M178I SSTR2_ENST00000315332.2_Missense_Mutation_p.M178I|RP11-143K11.5_ENST00000580671.1_RNA NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 178 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) TGCCCATCATGATATATGCTG 0.572000 48 54 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28598151 28598151 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:28598151T>A ENST00000434452.1 - 9 1303 c.1149A>T c.(1147-1149)ttA>ttT p.L383F DSC3_ENST00000360428.4_Missense_Mutation_p.L383F NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 383 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CAGTGTTAATTAAATCCTTAT 0.318000 11 39 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10089263 10089263 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:10089263G>A ENST00000264828.3 - 41 3090 c.3005C>T c.(3004-3006)cCc>cTc p.P1002L NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1002 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGCCCCCACGGGCCCTGGGGG 0.542000 17 30 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142639585 142639585 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:142639585C>T ENST00000355265.2 - 18 2447 c.1973G>A c.(1972-1974)gGg>gAg p.G658E NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 658 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GACAGTCTCCCCATGGTGCCG 0.597000 9 19 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26676319 26676319 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:26676319G>A ENST00000288710.2 + 14 1895 c.1821G>A c.(1819-1821)aaG>aaA p.K607K NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) aaggggagaaggaagaagagg 0.567000 6 38 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85971952 85971952 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:85971952C>T ENST00000372117.3 + 15 1674 c.1571C>T c.(1570-1572)tCc>tTc p.S524F CDHR1_ENST00000332904.3_Missense_Mutation_p.S524F|CDHR1_ENST00000440770.2_Missense_Mutation_p.S228F NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 524 Cadherin 5. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 ATCCACCCATCCACTGGGCTT 0.537000 34 111 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17036182 17036182 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:17036182C>T ENST00000443236.1 - 26 3543 c.3511_splice c.e26-1 p.G1171_splice NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1124 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CATGACGTCCCCTGGTGGGAA 0.562000 68 76 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139889280 139889280 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:139889280T>C ENST00000297183.6 + 21 3948 c.3824T>C c.(3823-3825)gTt>gCt p.V1275A ANKHD1_ENST00000360839.2_Missense_Mutation_p.V1275A|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V1275A NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGGAAGAGTTCTTCTTGAT 0.413000 46 6 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91136933 91136933 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:91136933C>T ENST00000420329.2 + 3 444 c.297C>T c.(295-297)tcC>tcT p.S99S CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Intron|CRTC3_ENST00000268184.6_Silent_p.S99S NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 99 Required for interaction with HTLV-1 TAX. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) AGAGGCCATCCAGGAACCGCT 0.537000 T MAML2 salivary gland mucoepidermoid 61 88 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205211090 205211090 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:205211090C>T ENST00000358024.3 + 2 1054 c.665C>T c.(664-666)tCc>tTc p.S222F TMCC2_ENST00000545499.1_Missense_Mutation_p.S144F|TMCC2_ENST00000495538.1_3'UTR NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 222 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CGCTCTTCCTCCACCACCGAC 0.687000 29 33 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160086658 160086658 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:160086658C>T ENST00000263635.6 + 27 4958 c.4721C>T c.(4720-4722)cCt>cTt p.P1574L TANC1_ENST00000454300.1_Missense_Mutation_p.P1468L NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1574 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 GCTGCCACTCCTGCTGGGAGC 0.557000 76 48 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614683 247614683 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:247614683G>A ENST00000318749.6 - 1 625 c.602C>T c.(601-603)aCc>aTc p.T201I NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGCCAGTATGGTGTCATTCAC 0.572000 26 43 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186953726 186953726 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:186953726C>T ENST00000296280.6 - 11 2158 c.1933G>A c.(1933-1935)Gag>Aag p.E645K MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.E532K NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 627 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AACATGTTCTCCGTGACGCTG 0.547000 86 38 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47655579 47655579 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:47655579C>T ENST00000273857.4 - 13 1833 c.1834G>A c.(1834-1836)Gaa>Aaa p.E612K CORIN_ENST00000502252.1_Missense_Mutation_p.E545K|CORIN_ENST00000505909.1_Missense_Mutation_p.E575K|CORIN_ENST00000504584.1_Missense_Mutation_p.E575K|CORIN_ENST00000508498.1_Missense_Mutation_p.E473K NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 612 LDL-receptor class A 5. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CCACAGTTTTCCTCATCACTG 0.408000 38 74 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083035 9083035 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9083035G>A ENST00000397910.4 - 1 8983 c.8780C>T c.(8779-8781)tCc>tTc p.S2927F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2928 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACAGTGAGGAAGATGCTGT 0.453000 25 27 0 0 1 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684907 80684907 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:80684907C>T ENST00000269373.6 + 6 863 c.790C>T c.(790-792)Cac>Tac p.H264Y FN3KRP_ENST00000535965.1_Missense_Mutation_p.H214Y NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 264 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) CTCCGCCTACCACGGCAAAAT 0.507000 69 58 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752194 140752194 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140752194G>A ENST00000576222.1 + 1 2364 c.2233G>A c.(2233-2235)Gaa>Aaa p.E745K PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTACAGCGAAAGGACTTT 0.512000 51 4 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161677099 161677099 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:161677099C>T ENST00000367959.2 + 1 338 c.96C>T c.(94-96)tcC>tcT p.S32S FCRLA_ENST00000350710.3_Silent_p.S32S|FCRLA_ENST00000349527.4_Silent_p.S15S|FCRLA_ENST00000367949.2_Silent_p.S32S|FCRLA_ENST00000236938.6_Silent_p.S32S|FCRLA_ENST00000367950.1_5'UTR|FCRLA_ENST00000294796.4_Silent_p.S15S|FCRLA_ENST00000367957.2_Silent_p.S32S|FCRLA_ENST00000367953.3_Silent_p.S15S|FCRLA_ENST00000546024.1_Silent_p.S32S|FCRLA_ENST00000540926.1_Silent_p.S15S|FCRLA_ENST00000309691.6_Silent_p.S15S|FCRLA_ENST00000540521.1_Silent_p.S32S NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 15 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TCTACCTTTCCCTTGGTGTGC 0.493000 24 13 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30365209 30365209 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:30365209G>A ENST00000389194.2 - 1 61 c.56C>T c.(55-57)tCt>tTt p.S19F LTN1_ENST00000389195.2_Missense_Mutation_p.S19F|LTN1_ENST00000361371.4_5'UTR O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 0 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GGCGGCGGAAGAGGACACCCT 0.632000 7 6 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13613110 13613110 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:13613110G>A ENST00000404922.3 + 2 1374 c.1255G>A c.(1255-1257)Gag>Aag p.E419K FBLN2_ENST00000535798.1_Missense_Mutation_p.E445K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E419K|FBLN2_ENST00000492059.1_Missense_Mutation_p.E419K NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 419 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCACGTGGAGGAGGACACAGA 0.582000 24 52 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183085947 183085947 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:183085947T>C ENST00000258341.4 + 8 1730 c.1473T>C c.(1471-1473)ggT>ggC p.G491G NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 491 Laminin EGF-like 4. 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 NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATCCTCGGGGTTGCACACCCT 0.373000 55 51 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49053943 49053943 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:49053943G>A ENST00000440857.1 - 9 1266 c.562_splice c.e9-1 p.D188_splice DALRD3_ENST00000341949.4_Splice_Site_p.D355_splice|DALRD3_ENST00000313778.5_Splice_Site_p.D188_splice|DALRD3_ENST00000441576.2_Splice_Site_p.D355_splice|DALRD3_ENST00000395462.4_Splice_Site_p.D188_splice Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 355 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCCAGGCTGGGTCTGAGGGAG 0.562000 42 53 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107032347 107032347 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:107032347C>T ENST00000409886.3 - 21 5110 c.5023G>A c.(5023-5025)Gaa>Aaa p.E1675K RGPD3_ENST00000304514.7_Missense_Mutation_p.E1675K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1675 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCCTCTATTTCCCGAAGCAGG 0.438000 95 109 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21842282 21842282 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:21842282G>A ENST00000382254.1 - 8 1888 c.802C>T c.(802-804)Cga>Tga p.R268* CDH12_ENST00000522262.1_Nonsense_Mutation_p.R228*|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R268* NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 268 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TTGGGGAATCGAGGTGGATTG 0.403000 HNSCC(59;0.17) 78 91 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30043512 30043512 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:30043512G>A ENST00000244360.6 - 1 152 c.55C>T c.(55-57)Cca>Tca p.P19S RNF39_ENST00000376751.3_Missense_Mutation_p.P19S NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 19 cytoplasm zinc ion binding CCCTCTCCTGGGATTGCCTCT 0.582000 36 100 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87195442 87195442 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:87195442G>A ENST00000265724.3 - 8 1063 c.646C>T c.(646-648)Ctt>Ttt p.L216F ABCB1_ENST00000543898.1_Missense_Mutation_p.L152F NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 216 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AAAATCACAAGGGTTAGCTTC 0.433000 25 49 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338182 122338182 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:122338182T>G ENST00000340112.2 - 1 1028 c.791A>C c.(790-792)aAg>aCg p.K264T CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 264 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GTCATTAGGCTTATAGCGTTC 0.403000 8 98 0 0 1 0 0 NDUFS4 4724 broad.mit.edu 37 5 52954388 52954388 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:52954388C>T ENST00000296684.5 + 4 386 c.358C>T c.(358-360)Ccc>Tcc p.P120S NM_002495.2 NP_002486.1 O43181 NDUS4_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 120 brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3) 10 Lung NSC(810;8.27e-05)|Breast(144;0.0848) NADH(DB00157) CAGGGCTGATCCCTTATCCAA 0.303000 40 37 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4445943 4445943 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:4445943G>A ENST00000254718.4 - 21 3292 c.2986C>T c.(2986-2988)Ccc>Tcc p.P996S MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P996S Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 996 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 AGGAACATGGGAACTGTGAGG 0.632000 131 70 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34085940 34085940 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:34085940G>A ENST00000297161.2 + 8 973 c.599G>A c.(598-600)aGa>aAa p.R200K BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Missense_Mutation_p.R200K NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 200 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CAATGTGTGAGAGAAGTCTGT 0.423000 84 61 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20616169 20616169 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:20616169G>A ENST00000202677.6 - 9 1040 c.898C>T c.(898-900)Cgt>Tgt p.R300C NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 300 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 AAAACAACACGAGCTGCCATA 0.358000 64 110 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24731320 24731320 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:24731320G>A ENST00000206765.6 - 2 362 c.239C>T c.(238-240)cCt>cTt p.P80L TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 80 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CCGGGAGCCAGGTCTTCGAGT 0.652000 58 95 0 0 1 0 0 PAQR6 79957 broad.mit.edu 37 1 156216477 156216477 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:156216477G>A ENST00000292291.5 - 2 204 c.46C>T c.(46-48)Ccc>Tcc p.P16S PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000356983.2_5'UTR|PAQR6_ENST00000368270.1_Intron|PAQR6_ENST00000335852.1_5'UTR|PAQR6_ENST00000360733.2_5'UTR NM_001272104.1|NM_001272105.1|NM_198406.1 NP_001259033.1|NP_001259034.1|NP_940798.1 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 16 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) CTCACCCGGGGGACCTGGTGG 0.592000 35 56 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39170397 39170397 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:39170397G>A ENST00000301819.6 + 14 2071 c.1894G>A c.(1894-1896)Gag>Aag p.E632K TTC21A_ENST00000431162.2_Missense_Mutation_p.E631K|TTC21A_ENST00000440121.1_Missense_Mutation_p.E583K NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 631 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGAACTGGTGGAGGCCCTCCG 0.577000 52 57 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154863050 154863050 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:154863050G>A ENST00000287907.2 + 1 1017 c.441G>A c.(439-441)atG>atA p.M147I AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 147 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGCGCCACATGGAATACACGC 0.622000 45 113 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 695156 695156 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:695156C>T ENST00000304478.4 + 4 1216 c.1110C>T c.(1108-1110)gcC>gcT p.A370A NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 370 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) TGCAGCTGGCCGAGAGCACTG 0.617000 51 107 0 0 1 0 0 ZNF358 140467 broad.mit.edu 37 19 7584289 7584289 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:7584289C>T ENST00000597229.1 + 2 331 c.161C>T c.(160-162)cCg>cTg p.P54L CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.P54L NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 54 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 AACACTGTCCCGGAAGACGTG 0.612000 44 51 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119469924 119469924 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:119469924C>T ENST00000273390.5 + 17 2361 c.2284C>T c.(2284-2286)Caa>Taa p.Q762* MAATS1_ENST00000472117.1_3'UTR NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GAAAGAAACTCAAAATGAGAA 0.413000 32 25 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52556609 52556609 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:52556609G>A ENST00000321725.6 + 61 6725 c.6649G>A c.(6649-6651)Ggc>Agc p.G2217S NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2217 Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGCCACCAGCGGCCCTTATGG 0.602000 105 115 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82838072 82838072 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:82838072G>A ENST00000265077.3 + 8 9815 c.9250G>A c.(9250-9252)Gca>Aca p.A3084T VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A2097T|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3084 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGAAGGCACGGCAATCTATTT 0.373000 25 38 0 0 1 0 0 SLC16A12 387700 broad.mit.edu 37 10 91222268 91222268 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:91222268C>T ENST00000371790.4 - 3 368 c.68G>A c.(67-69)gGa>gAa p.G23E SLC16A12_ENST00000341233.4_5'UTR|RP11-168O10.6_ENST00000454270.1_RNA Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 0 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 TTCTTCTTTTCCAGGTTGCTC 0.488000 15 19 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117714068 117714068 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:117714068G>A ENST00000276204.6 + 14 1595 c.1521G>A c.(1519-1521)caG>caA p.Q507Q DOCK11_ENST00000498252.1_3'UTR|DOCK11_ENST00000276202.7_Silent_p.Q507Q Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 507 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AGACGGCCCAGAAGGTGCACA 0.463000 27 5 0 0 1 0 0 CPB2 1361 broad.mit.edu 37 13 46653009 46653009 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:46653009C>T ENST00000181383.4 - 5 428 c.412G>A c.(412-414)Gag>Aag p.E138K CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E138K|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 138 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GGATGCCTCTCAGTTATAAAT 0.393000 28 48 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6424307 6424307 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:6424307C>T ENST00000449001.2 + 3 829 c.335C>T c.(334-336)tCc>tTc p.S112F PLEKHG6_ENST00000536531.1_Missense_Mutation_p.S144F|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.S144F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.S144F NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 144 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 ATCGAGAAGTCCTGGAGGGAG 0.607000 41 48 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35696766 35696766 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:35696766C>T ENST00000353139.5 - 2 564 c.83G>A c.(82-84)aGa>aAa p.R28K ACACA_ENST00000394406.2_5'UTR|ACACA_ENST00000416895.1_5'UTR NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 0 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 NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TAACTGACCTCTTATAATTCT 0.284000 12 47 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53736791 53736791 + Silent SNP C C T rs145203578 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:53736791C>T ENST00000288139.3 + 9 1462 c.1344C>T c.(1342-1344)atC>atT p.I448I CACNA1D_ENST00000350061.5_Silent_p.I448I|CACNA1D_ENST00000422281.2_Silent_p.I448I NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 448 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTGAGGACATCGATCCGGAGA 0.542000 48 53 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8974052 8974052 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:8974052G>A ENST00000397910.4 - 76 42822 c.42619C>T c.(42619-42621)Cac>Tac p.H14207Y MUC16_ENST00000380951.5_Missense_Mutation_p.H848Y|MUC16_ENST00000596956.1_5'UTR NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14268 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGACAATGTGGAAATTTATC 0.502000 12 26 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47693322 47693322 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:47693322G>A ENST00000397708.1 - 8 2430 c.2176C>T c.(2176-2178)Cgc>Tgc p.R726C MCM3AP_ENST00000291688.1_Missense_Mutation_p.R726C O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 726 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CCACGCGTGCGGTTCCACACG 0.507000 34 66 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36211255 36211255 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:36211255T>G ENST00000222270.7 + 3 1006 c.1006T>G c.(1006-1008)Tgg>Ggg p.W336G KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Missense_Mutation_p.W336G|WBP7_ENST00000420124.1_Missense_Mutation_p.W336G NM_014727.1 NP_055542.1 TGAGGAAAGTTGGCAGGATGT 0.473000 17 13 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24652236 24652236 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:24652236G>A ENST00000354464.6 - 23 2543 c.2367C>T c.(2365-2367)ccC>ccT p.P789P RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 789 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) GGCGCCCAGGGGGCTTCAGTG 0.677000 38 88 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74283914 74283914 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:74283914C>T ENST00000295897.4 + 12 1627 c.1538C>T c.(1537-1539)tCa>tTa p.S513L ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.S513L|ALB_ENST00000503124.1_Missense_Mutation_p.S363L|ALB_ENST00000401494.3_Missense_Mutation_p.S398L|ALB_ENST00000415165.2_Missense_Mutation_p.S321L NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 513 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CCATGCTTTTCAGCTCTGGAA 0.443000 43 33 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43698525 43698525 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:43698525C>T ENST00000405312.3 - 5 1447 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K PSG4_ENST00000244295.9_Missense_Mutation_p.E311K|PSG4_ENST00000433626.2_Missense_Mutation_p.E311K NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 404 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TTGGAGCTTTCCTTGCCAGTG 0.468000 193 248 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676348 20676348 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:20676348C>T ENST00000525748.1 + 16 2601 c.2328C>T c.(2326-2328)ccC>ccT p.P776P SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 776 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.P776P(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TGATCGACCCCTTGGGAACCT 0.557000 136 166 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73568065 73568065 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:73568065G>A ENST00000392550.3 + 19 2497 c.2380G>A c.(2380-2382)Gaa>Aaa p.E794K LLGL2_ENST00000577200.1_Missense_Mutation_p.E794K|LLGL2_ENST00000167462.5_Missense_Mutation_p.E794K NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 794 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CGAGCCCCTCGAAGTGGCCCA 0.652000 32 62 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20568666 20568666 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:20568666G>A ENST00000377252.3 + 14 2349 c.1508G>A c.(1507-1509)aGa>aAa p.R503K PLXDC2_ENST00000377242.3_Missense_Mutation_p.R454K|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 503 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 ATGAAGTTTAGAAGAGGCTCT 0.418000 23 21 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56140097 56140097 + Splice_Site SNP T T A rs140553751 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:56140097T>A ENST00000319441.4 + 9 1484 c.1318_splice c.e9-1 p.G440_splice PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Splice_Site_p.G123_splice NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 440 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTGCTAAAGGTGTCCCTCTAG 0.468000 15 140 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91523621 91523621 + Splice_Site SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:91523621T>G ENST00000361188.5 - 7 2034 c.e7-2 PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Splice_Site|PRC1_ENST00000442656.2_Splice_Site|PRC1_ENST00000394249.3_Splice_Site O43663 PRC1_HUMAN protein regulator of cytokinesis 1 cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TAATTGCAGCTGAAAGAAAGA 0.408000 43 68 0 0 1 0 0 CHP1 11261 broad.mit.edu 37 15 41555047 41555047 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:41555047C>T ENST00000334660.5 + 4 555 c.315C>T c.(313-315)ccC>ccT p.P105P CHP1_ENST00000560397.1_Silent_p.P105P|CHP1_ENST00000558351.1_3'UTR NM_007236.4 NP_009167.1 Q99653 CHP1_HUMAN calcineurin-like EF-hand protein 1 105 potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity TGAATGGACCCGAACCACTCA 0.418000 56 96 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122627011 122627011 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:122627011G>A ENST00000303924.4 - 4 1534 c.997C>T c.(997-999)Cga>Tga p.R333* NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 333 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 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) CACTTAGATCGAGCTGTGTAT 0.468000 63 33 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70178196 70178196 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:70178196C>T ENST00000253925.7 + 9 1423 c.1208C>T c.(1207-1209)tCc>tTc p.S403F AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S403F NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 403 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GCAGCGCTTTCCAAGGTAGTG 0.567000 108 127 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 93962767 93962767 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:93962767T>C ENST00000553484.1 + 6 877 c.723T>C c.(721-723)tgT>tgC p.C241C UNC79_ENST00000393151.2_Silent_p.C241C|UNC79_ENST00000555664.1_Silent_p.C241C|UNC79_ENST00000256339.4_Silent_p.C64C Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 241 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGTATCATTGTCAATTACTGG 0.274000 23 33 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59931274 59931274 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:59931274C>T ENST00000256858.6 + 17 2651 c.2403C>T c.(2401-2403)atC>atT p.I801I KIAA1468_ENST00000398130.2_Silent_p.I801I Q9P260 K1468_HUMAN KIAA1468 801 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) CCACTATTATCGGAAGTCGTG 0.438000 26 23 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12461038 12461038 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:12461038G>C ENST00000242804.4 - 6 1943 c.1361C>G c.(1360-1362)aCt>aGt p.T454S ZNF442_ENST00000438182.1_Missense_Mutation_p.T385S NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TCCAGTGTGAGTTGTTTCATG 0.388000 19 68 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208693168 208693168 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:208693168G>A ENST00000427836.2 - 8 2650 c.2161C>T c.(2161-2163)Ccc>Tcc p.P721S NM_001080475.2 NP_001073944.1 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 721 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTCGGGCAGGGGACAGACTTT 0.502000 42 62 0 0 1 0 0 PSMC3 5702 broad.mit.edu 37 11 47444150 47444150 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:47444150C>G ENST00000298852.3 - 8 1016 c.859G>C c.(859-861)Gag>Cag p.E287Q PSMC3_ENST00000530912.1_Missense_Mutation_p.E245Q|PSMC3_ENST00000602866.1_Missense_Mutation_p.E271Q NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 287 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|interspecies interaction between organisms|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 cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCATCCAACTCATCAATGAAG 0.567000 51 189 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39070657 39070657 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:39070657C>T ENST00000355481.4 + 99 14516 c.14385C>T c.(14383-14385)tcC>tcT p.S4795S RYR1_ENST00000360985.3_Silent_p.S4795S|RYR1_ENST00000359596.3_Silent_p.S4800S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4800 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGGTGATGTCCCTCTTGGGAC 0.592000 161 206 0 0 1 0 0 TMEM144 55314 broad.mit.edu 37 4 159162704 159162704 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:159162704G>A ENST00000296529.6 + 11 1366 c.846G>A c.(844-846)tgG>tgA p.W282* TMEM144_ENST00000503404.1_3'UTR NM_018342.4 NP_060812.2 Q7Z5S9 TM144_HUMAN transmembrane protein 144 282 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) CCTGCTGTTGGTTCATAGCAA 0.403000 72 170 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392772 124392772 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:124392772G>A ENST00000338354.3 + 49 6182 c.6076G>A c.(6076-6078)Ggg>Agg p.G2026R DMBT1_ENST00000368955.3_Missense_Mutation_p.G2016R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G746R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G2026R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G2016R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1398R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1398R Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2026 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATTCTATCCCGGGAACTATCC 0.507000 33 101 0 0 1 0 0 FXYD5 53827 broad.mit.edu 37 19 35660481 35660481 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:35660481G>A ENST00000342879.3 + 8 1278 c.500G>A c.(499-501)aGg>aAg p.R167K FXYD5_ENST00000541435.2_Missense_Mutation_p.R167K|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Missense_Mutation_p.R167K|FXYD5_ENST00000392217.3_Missense_Mutation_p.R96K|FXYD5_ENST00000588699.1_3'UTR|FXYD5_ENST00000590686.1_Missense_Mutation_p.R167K|FXYD5_ENST00000423817.3_Missense_Mutation_p.R167K Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 167 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) GGCAAGTGCAGGCAGCTGTCC 0.542000 47 61 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155206068 155206068 + Nonsense_Mutation SNP G G A rs121908309 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:155206068G>A ENST00000428024.2 - 7 1433 c.931C>T c.(931-933)Cga>Tga p.R311* GBA_ENST00000327247.5_Nonsense_Mutation_p.R398*|GBA_ENST00000427500.2_Nonsense_Mutation_p.R349*|GBA_ENST00000368373.3_Nonsense_Mutation_p.R398*|GBA_ENST00000536770.1_Nonsense_Mutation_p.R285* NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 398 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) TGCATCCCTCGATCCCAGGAG 0.572000 Gaucher disease type I 21 44 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48789236 48789236 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:48789236C>A ENST00000595607.1 + 6 849 c.355C>A c.(355-357)Cct>Act p.P119T ZNF114_ENST00000600687.1_Missense_Mutation_p.P119T|ZNF114_ENST00000315849.1_Missense_Mutation_p.P119T|ZNF114_ENST00000597695.1_Missense_Mutation_p.P85T Q8NC26 ZN114_HUMAN zinc finger protein 114 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) AGATGAATCTCCTGTTAGCAT 0.463000 63 76 6.88731e-43 7.08522e-43 1 1 0 HRNR 388697 broad.mit.edu 37 1 152185671 152185671 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:152185671A>G ENST00000368801.2 - 3 8509 c.8434T>C c.(8434-8436)Tat>Cat p.Y2812H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2812 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTTTGCAATAAGAATACCCA 0.483000 6 175 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65804671 65804671 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:65804671T>C ENST00000341861.5 - 2 1849 c.269A>G c.(268-270)gAt>gGt p.D90G DPP8_ENST00000358939.4_Missense_Mutation_p.D74G|DPP8_ENST00000339244.5_Missense_Mutation_p.D90G|DPP8_ENST00000321118.7_Missense_Mutation_p.D90G|DPP8_ENST00000321147.6_Missense_Mutation_p.D90G|DPP8_ENST00000300141.6_Missense_Mutation_p.D74G|DPP8_ENST00000559233.1_Missense_Mutation_p.D90G NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 90 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TCCATCTGGATCATTCCTCTT 0.403000 25 92 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115943 15115943 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:15115943G>A ENST00000253699.3 - 14 2314 c.1701C>T c.(1699-1701)acC>acT p.T567T ZFYVE20_ENST00000476527.2_Silent_p.T567T NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 567 Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 AAGCAAGGTGGGTGCGAGGCT 0.577000 32 43 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48385556 48385556 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:48385556C>T ENST00000285737.4 + 15 2495 c.2402C>T c.(2401-2403)cCt>cTt p.P801L LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.P757L NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 801 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTCATTATTCCTCGGAGAAAT 0.448000 30 9 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67151177 67151177 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:67151177G>A ENST00000269081.4 - 31 4586 c.3677C>T c.(3676-3678)tCc>tTc p.S1226F ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1226 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AACACAAAAGGAAACATTTCT 0.289000 10 19 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52526214 52526214 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:52526214C>T ENST00000345716.4 + 21 4365 c.4231C>T c.(4231-4233)Cgc>Tgc p.R1411C NISCH_ENST00000479054.1_Missense_Mutation_p.R1411C NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1411 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GGACGATGGCCGCCGCGTCCG 0.632000 54 202 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30672022 30672022 + Silent SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:30672022A>T ENST00000376406.3 - 10 5585 c.4938T>A c.(4936-4938)tcT>tcA p.S1646S MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.S1382S NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1646 cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GAGTCTTGACAGAGGACCTAT 0.577000 Other conserved DNA damage response genes 102 142 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31423046 31423046 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:31423046C>A ENST00000373747.3 - 17 2886 c.2787G>T c.(2785-2787)ttG>ttT p.L929F PUM1_ENST00000440538.2_Missense_Mutation_p.L902F|PUM1_ENST00000424085.2_Missense_Mutation_p.L686F|PUM1_ENST00000257075.5_Missense_Mutation_p.L928F|PUM1_ENST00000373742.2_Missense_Mutation_p.L869F|PUM1_ENST00000426105.2_Missense_Mutation_p.L928F|PUM1_ENST00000373741.4_Missense_Mutation_p.L964F|PUM1_ENST00000423018.2_Missense_Mutation_p.L784F NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 928 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TCTGTAGTGCCAATGACAGGA 0.438000 28 102 2.08457e-15 2.11476e-15 1 1 0 MUC16 94025 broad.mit.edu 37 19 9058095 9058095 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9058095G>A ENST00000397910.4 - 3 29554 c.29351C>T c.(29350-29352)cCa>cTa p.P9784L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9786 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTCAAATTTGGAGATGAACT 0.478000 39 38 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8242577 8242577 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:8242577G>A ENST00000539824.1 + 18 4052 c.3678G>A c.(3676-3678)caG>caA p.Q1226Q SH3TC1_ENST00000245105.3_Silent_p.Q1302Q Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1302 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TCTTCTACCAGAAGGCCAGGA 0.622000 82 76 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227947039 227947039 + Missense_Mutation SNP C C T rs143073539 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:227947039C>T ENST00000366759.4 + 3 1390 c.976C>T c.(976-978)Cgt>Tgt p.R326C SNAP47_ENST00000366760.1_Missense_Mutation_p.R84C|SNAP47_ENST00000315781.5_Missense_Mutation_p.R326C NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 326 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CATGGCCTATCGTTTGATATC 0.478000 49 101 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95290162 95290162 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:95290162T>C ENST00000271227.6 + 3 351 c.249T>C c.(247-249)ccT>ccC p.P83P SLC44A3_ENST00000467909.1_Silent_p.P35P|SLC44A3_ENST00000527077.1_Silent_p.P47P|SLC44A3_ENST00000446120.2_Silent_p.P47P|SLC44A3_ENST00000529450.1_Silent_p.P83P|SLC44A3_ENST00000532427.1_Silent_p.P35P NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 83 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) AAGGGGCCCCTCTTTCAGGGC 0.488000 135 72 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121659684 121659684 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:121659684G>A ENST00000489711.1 + 22 2408 c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K SLC15A2_ENST00000295605.2_Missense_Mutation_p.E643K NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 674 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GCAGTGGGCCGAATTCATTTT 0.473000 52 46 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31302346 31302346 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:31302346G>A ENST00000265071.2 + 6 1205 c.940G>A c.(940-942)Gat>Aat p.D314N CDH6_ENST00000514738.1_Missense_Mutation_p.D259N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 314 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGAGGGGCTGGATATGTTTGA 0.473000 44 60 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153695452 153695452 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:153695452C>T ENST00000369682.3 + 18 3335 c.3160C>T c.(3160-3162)Ccc>Tcc p.P1054S NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1054 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGTCCAGGAGCCCCGGGTCCG 0.672000 127 17 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75812356 75812356 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:75812356G>A ENST00000322507.8 - 56 8681 c.8372C>T c.(8371-8373)cCa>cTa p.P2791L COL12A1_ENST00000345356.6_Missense_Mutation_p.P1627L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2715L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2791L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2791 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTGAGGGCCTGGAGGACCCTG 0.478000 30 23 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83195190 83195190 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:83195190C>T ENST00000398309.2 - 17 2430 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K DLG2_ENST00000426717.2_Intron|DLG2_ENST00000543673.1_Missense_Mutation_p.E759K|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Missense_Mutation_p.E759K|DLG2_ENST00000531015.1_Missense_Mutation_p.E621K|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.E693K NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 654 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCACTGGTTTCCTGCTCACTC 0.408000 39 51 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228846528 228846528 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:228846528C>T ENST00000392056.3 - 12 5054 c.5008G>A c.(5008-5010)Gat>Aat p.D1670N SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1641N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1670 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGGAAGATATCACCCACTTTC 0.478000 35 40 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152322470 152322470 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:152322470C>T ENST00000243326.4 + 29 6919 c.6436C>T c.(6436-6438)Caa>Taa p.Q2146* RIF1_ENST00000428287.2_Nonsense_Mutation_p.Q2146*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.Q2146*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.Q2146*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.Q2146* Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 2146 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGCATCTCCTCAAAAACTAAG 0.453000 38 46 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143798171 143798171 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:143798171A>C ENST00000264170.4 + 13 1474 c.1216A>C c.(1216-1218)Aca>Cca p.T406P KYNU_ENST00000409512.1_Missense_Mutation_p.T406P NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 406 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GCTAACAATAACATTTTCTGT 0.413000 20 25 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682600 140682600 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140682600G>A ENST00000239451.4 - 1 1012 c.833C>T c.(832-834)cCt>cTt p.P278L NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 278 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CCCATTGGCAGGGATTGCTCG 0.438000 39 6 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49430446 49430446 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:49430446G>A ENST00000374201.3 - 12 1667 c.1365C>T c.(1363-1365)atC>atT p.I455I FRMPD2_ENST00000305531.3_Silent_p.I431I|FRMPD2_ENST00000407470.4_Silent_p.I424I NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 455 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TCTCCTCCAGGATATCTTTCC 0.512000 58 48 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769025 247769025 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:247769025C>T ENST00000320002.2 + 1 170 c.138C>T c.(136-138)atC>atT p.I46I RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCACCATAATCATCATCTCAT 0.463000 82 156 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558231 149558231 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:149558231C>T ENST00000223210.4 + 7 2227 c.1982C>T c.(1981-1983)cCt>cTt p.P661L NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 661 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 ACTCTGGCCCCTCTCTACAGT 0.592000 31 25 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90052274 90052274 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:90052274G>A ENST00000405460.2 + 56 11680 c.11584G>A c.(11584-11586)Gac>Aac p.D3862N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3862 Calx-beta 25. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCCCCAGGATGACCTTCCTGA 0.413000 93 108 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62416967 62416967 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:62416967C>A ENST00000330574.2 - 2 637 c.585G>T c.(583-585)caG>caT p.Q195H NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 195 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCGAGAGGCACTGCACATAGA 0.542000 96 103 2.25818e-43 2.32455e-43 1 1 0 ZNF480 147657 broad.mit.edu 37 19 52825826 52825826 + Silent SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:52825826C>G ENST00000595962.1 + 5 1389 c.1323C>G c.(1321-1323)ggC>ggG p.G441G ZNF480_ENST00000335090.6_Silent_p.G364G|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.G398G|ZNF480_ENST00000490272.1_3'UTR NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) AGTATTCAGGCCTTTCAGCCC 0.388000 62 105 0 0 1 0 0 LOC101929066 101929066 broad.mit.edu 37 8 17944394 17944394 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:17944394C>T ENST00000499554.2 + 0 319 CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000505114.2_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000521775.1_RNA TTTTACAGGTCTTTGTGGGAA 0.299000 12 12 0 0 1 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204379631 204379631 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:204379631G>A ENST00000367188.4 - 1 1288 c.909C>T c.(907-909)ttC>ttT p.F303F RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 303 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CCTGTTGAAGGAATTCCAGCC 0.532000 153 151 0 0 1 0 0 COMMD9 29099 broad.mit.edu 37 11 36302279 36302279 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:36302279G>A ENST00000263401.5 - 2 176 c.160C>T c.(160-162)Cag>Tag p.Q54* COMMD9_ENST00000452374.2_Intron|COMMD9_ENST00000532705.1_Nonsense_Mutation_p.Q54* NM_014186.3 NP_054905.2 Q9P000 COMD9_HUMAN COMM domain containing 9 54 kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 5 all_lung(20;0.211) all_hematologic(20;0.107) GCCTCCTCCTGGGTCACAGAC 0.463000 58 78 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49218807 49218807 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:49218807G>A ENST00000327979.2 - 13 1860 c.1449C>T c.(1447-1449)tcC>tcT p.S483S FAM65C_ENST00000045083.2_Silent_p.S483S|FAM65C_ENST00000535356.1_Silent_p.S487S Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 483 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGTGGAACAGGGAGCCCTGTG 0.682000 27 42 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18300618 18300618 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:18300618G>A ENST00000441493.2 - 26 5161 c.4809C>T c.(4807-4809)tcC>tcT p.S1603S NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1603 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.S1603S(1) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGCTCTTCACGGACTTCTCCC 0.692000 3 57 0 0 1 0 0 GPHB5 122876 broad.mit.edu 37 14 63784528 63784528 + RNA SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:63784528G>T ENST00000539258.1 - 0 92 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) GAAGGAGGAGGGCCATGGGGC 0.582000 39 17 1.23713e-20 1.25981e-20 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26286818 26286818 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:26286818C>T ENST00000335473.7 + 26 4660 c.4410C>T c.(4408-4410)gcC>gcT p.A1470A MYO18B_ENST00000407587.2_Silent_p.A1471A|MYO18B_ENST00000536101.1_Silent_p.A1470A|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000600211.1_RNA NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1470 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGCTACAGGCCTTCCGGGAGG 0.612000 14 39 0 0 1 0 0 TAS2R42 353164 broad.mit.edu 37 12 11339441 11339441 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:11339441C>T ENST00000334266.1 - 1 102 c.103G>A c.(103-105)Ggg>Agg p.G35R NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 35 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) TTCTTGATCCCTTCAGAGCAG 0.438000 62 100 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39777066 39777066 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:39777066G>A ENST00000540235.1 - 9 1502 c.1503C>T c.(1501-1503)atC>atT p.I501I KRT17_ENST00000311208.8_Silent_p.I342I P14923 PLAK_HUMAN junction plakoglobin 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TCAGCCCCTGGATCTGGGACA 0.607000 47 160 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22927895 22927895 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:22927895G>A ENST00000166244.3 + 16 2904 c.2832G>A c.(2830-2832)atG>atA p.M944I NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 944 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCATCCGCATGGGCCGGTACC 0.692000 68 205 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3801800 3801800 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:3801800G>A ENST00000225538.3 - 10 1284 c.1010C>T c.(1009-1011)tCt>tTt p.S337F NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 337 Pore-forming motif (Potential). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) GCCAATTCCAGAGCCGATGGT 0.592000 20 64 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40557273 40557273 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:40557273G>A ENST00000357037.5 - 2 1024 c.605C>T c.(604-606)tCg>tTg p.S202L NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 202 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CTCGTCCGACGAAAGCTCCAG 0.667000 170 189 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823709 47823709 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:47823709C>T ENST00000355085.3 + 2 697 c.675C>T c.(673-675)atC>atT p.I225I NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 225 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) ACACTTTCATCCTGCTCCGGA 0.612000 127 167 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113416433 113416433 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:113416433C>T ENST00000272542.3 + 7 1349 c.810C>T c.(808-810)ccC>ccT p.P270P SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 270 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 CTGAAAGCCCCTTAATGGAAA 0.403000 37 49 0 0 1 0 0 YIPF2 78992 broad.mit.edu 37 19 11034639 11034639 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:11034639C>A ENST00000586748.1 - 7 693 c.521G>T c.(520-522)tGg>tTg p.W174L YIPF2_ENST00000590329.1_Missense_Mutation_p.W135L|YIPF2_ENST00000253031.2_Missense_Mutation_p.W174L Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 174 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 GGGCACCAGCCACGCATAGCA 0.672000 18 28 4.35082e-09 4.39446e-09 1 1 0 OR8H2 390151 broad.mit.edu 37 11 55872770 55872770 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:55872770G>A ENST00000313503.1 + 1 252 c.252G>A c.(250-252)gcG>gcA p.A84A NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) AAACCTTAGCGAACTTACTGA 0.438000 HNSCC(53;0.14) 193 242 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97363851 97363851 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:97363851G>A ENST00000457909.1 + 0 3817 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 AACTCTACCAGGAGCAGCCCA 0.602000 12 24 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140058343 140058343 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:140058343G>A ENST00000371561.3 + 18 3673 c.2576G>A c.(2575-2577)cGg>cAg p.R859Q GRIN1_ENST00000371550.4_Missense_Mutation_p.R859Q|GRIN1_ENST00000350902.5_Missense_Mutation_p.R859Q|GRIN1_ENST00000371555.4_Missense_Mutation_p.R880Q|GRIN1_ENST00000371560.3_Missense_Mutation_p.R880Q|GRIN1_ENST00000371546.4_Missense_Mutation_p.R880Q|GRIN1_ENST00000371559.4_Missense_Mutation_p.R859Q|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Missense_Mutation_p.R859Q|GRIN1_ENST00000371553.3_Missense_Mutation_p.R880Q NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 859 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) AACGTGTGGCGGAAGAACCTG 0.657000 39 7 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821895 72821895 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:72821895G>A ENST00000268489.5 - 10 10952 c.10280C>T c.(10279-10281)aCc>aTc p.T3427I ZFHX3_ENST00000397992.5_Missense_Mutation_p.T2513I NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3427 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTCACGGGGGGTGTTTTTCTG 0.577000 113 15 0 0 1 0 0 ARMC2 84071 broad.mit.edu 37 6 109282807 109282807 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:109282807G>A ENST00000392644.4 + 14 2116 c.1948G>A c.(1948-1950)Gtg>Atg p.V650M ARMC2_ENST00000368972.3_Missense_Mutation_p.V485M|ARMC2_ENST00000481850.1_3'UTR NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 650 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) TGAGGAGCTGGTGATCAATGC 0.378000 15 36 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632538 143632538 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:143632538C>T ENST00000408955.2 + 1 280 c.213C>T c.(211-213)gtC>gtT p.V71V NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TTGTCGATGTCTCCTATGCCA 0.512000 113 246 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402931 248402931 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:248402931G>A ENST00000306687.1 + 1 701 c.701G>A c.(700-702)cGt>cAt p.R234H NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGGGAAAGTCGTCGCAAGGCC 0.483000 22 27 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62339039 62339039 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:62339039G>A ENST00000378019.3 - 4 591 c.501C>T c.(499-501)acC>acT p.T167T EEF1G_ENST00000329251.4_Silent_p.T117T|EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 117 GST C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGATGCCCAAGGTGGGGAACA 0.572000 5 12 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95733109 95733109 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:95733109C>T ENST00000311106.3 - 12 1890 c.1653G>A c.(1651-1653)tgG>tgA p.W551* PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Nonsense_Mutation_p.W504* NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 551 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACATGAAGTCCCAATTCTTAA 0.393000 32 34 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101742024 101742024 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:101742024T>A ENST00000251127.6 - 30 3560 c.3479A>T c.(3478-3480)aAt>aTt p.N1160I NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1160 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTTGTTTTCATTGAAATTAGC 0.388000 12 33 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22154060 22154060 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:22154060A>G ENST00000389398.5 + 25 2662 c.2566A>G c.(2566-2568)Aag>Gag p.K856E VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 856 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CTTACCCAGAAAGGATACAGT 0.448000 7 2 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976887 119976887 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:119976887G>A ENST00000313400.4 - 3 865 c.765C>T c.(763-765)atC>atT p.I255I ASTN2_ENST00000373996.3_Silent_p.I255I|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.I255I O75129 ASTN2_HUMAN astrotactin 2 255 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCACAGATGGGATGTAGTGGA 0.622000 56 9 0 0 1 0 0 LRAT 9227 broad.mit.edu 37 4 155665896 155665896 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:155665896G>A ENST00000336356.3 + 2 671 c.418G>A c.(418-420)Gag>Aag p.E140K LRAT_ENST00000507827.1_Missense_Mutation_p.E140K NM_004744.3 NP_004735.2 O95237 LRAT_HUMAN lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 140 response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9) 16 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GCTCAACGAGGAGGTGGCGCG 0.587000 62 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067908 9067908 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9067908G>A ENST00000397910.4 - 3 19741 c.19538C>T c.(19537-19539)tCc>tTc p.S6513F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6515 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGACAGAAGGGAAGAGGAAGA 0.473000 16 13 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123296237 123296237 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:123296237G>A ENST00000458573.2 + 1 377 c.220G>A c.(220-222)Gaa>Aaa p.E74K LMOD2_ENST00000456238.2_Missense_Mutation_p.E74K NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 74 Glu-rich. cytoskeleton actin binding|tropomyosin binding GGCCTATTGGGAAAAGGAGTC 0.552000 7 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615801 179615801 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179615801G>A ENST00000360870.5 - 46 11548 c.11326C>T c.(11326-11328)Ctt>Ttt p.L3776F TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9613 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATTAGAAAGGGCATGTGGA 0.353000 37 59 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9220803 9220803 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:9220803C>T ENST00000318602.7 - 35 4691 c.4384G>A c.(4384-4386)Gag>Aag p.E1462K NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1462 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GCATTGTACTCAGCAATTGCA 0.423000 25 33 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153317847 153317847 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:153317847C>T ENST00000359650.5 - 4 215 c.151G>A c.(151-153)Gat>Aat p.D51N PGLYRP4_ENST00000368739.3_Splice_Site|PGLYRP4_ENST00000490266.1_Splice_Site NM_020393.2 NP_065126.2 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 51 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTGGAGACATCTGTGGGAAGG 0.587000 79 117 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173675 207173675 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:207173675G>A ENST00000374423.3 + 5 4809 c.4423G>A c.(4423-4425)Gag>Aag p.E1475K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1475 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GTCTTACAAAGAGGCAGACCT 0.373000 4 7 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7696448 7696448 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:7696448C>T ENST00000572933.1 + 48 8954 c.7494C>T c.(7492-7494)ccC>ccT p.P2498P DNAH2_ENST00000389173.2_Silent_p.P2498P Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2498 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCCAGCCACCCCTGGAGCTGA 0.512000 73 64 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5345282 5345282 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:5345282G>A ENST00000328813.2 - 1 300 c.246C>T c.(244-246)atC>atT p.I82I HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACCCATAGGATGCCCATTA 0.502000 39 43 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238274538 238274538 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:238274538G>A ENST00000295550.4 - 12 6093 c.5641C>T c.(5641-5643)Cgc>Tgc p.R1881C COL6A3_ENST00000409809.1_Missense_Mutation_p.R1675C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1675C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1680C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1681C|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1274C NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1881 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTGGGCGAGCGGCCACCGCTG 0.597000 93 141 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42488319 42488319 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:42488319C>T ENST00000318522.5 + 4 659 c.397C>T c.(397-399)Cat>Tat p.H133Y EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.H133Y NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 133 microtubule-based process|mitosis cytoplasm|microtubule protein binding p.H133D(1) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 agaggaaTCTCATTCTAATGA 0.368000 T ALK NSCLC 33 41 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41820202 41820202 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:41820202G>A ENST00000304330.4 - 11 1400 c.1284C>T c.(1282-1284)gaC>gaT p.D428D RPAP1_ENST00000561603.1_Silent_p.D428D|RPAP1_ENST00000568413.1_5'UTR NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 428 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTGCTAGCCGGTCCCCAAACT 0.542000 21 43 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80329126 80329126 + Missense_Mutation SNP C C T rs149134428 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:80329126C>T ENST00000358842.3 - 1 246 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 77 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 ATATTCAGTTCGTCAAGTTTC 0.418000 116 104 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17191139 17191139 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:17191139G>A ENST00000285681.2 + 10 1423 c.1054G>A c.(1054-1056)Gag>Aag p.E352K USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.E352K|USP25_ENST00000400183.2_Missense_Mutation_p.E352K Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 352 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TTTACATTCAGAGAATTCAGG 0.403000 74 106 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87370828 87370828 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:87370828G>A ENST00000338056.3 + 7 1024 c.613G>A c.(613-615)Gga>Aga p.G205R RUNDC3B_ENST00000493037.1_Missense_Mutation_p.G188R|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.G188R NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 205 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) CTGCCTAAAGGGAGAGGGGCT 0.299000 9 28 0 0 1 0 0 BDNF-AS 497258 broad.mit.edu 37 11 27528409 27528409 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:27528409C>T ENST00000499008.3 + 0 11 BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA NR_002832.2 ATCGCGAGATCAGGAAGGTGG 0.622000 9 9 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79536116 79536116 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:79536116C>T ENST00000374747.5 - 14 1504 c.1375G>A c.(1375-1377)Gat>Aat p.D459N NPLOC4_ENST00000539314.1_Missense_Mutation_p.D298N|NPLOC4_ENST00000331134.6_Missense_Mutation_p.D459N Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 459 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TAAACTGGATCCTTGGGGAAA 0.423000 10 84 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325976 57325976 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:57325976T>G ENST00000326441.9 - 10 4197 c.3834A>C c.(3832-3834)gaA>gaC p.E1278D PEG3_ENST00000593695.1_Missense_Mutation_p.E1152D|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1278D|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1154D|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1278 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGAGTCTCTCTTCGGTCTGAC 0.468000 27 43 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196953106 196953106 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:196953106C>T ENST00000367414.5 + 3 397 c.341C>T c.(340-342)cCt>cTt p.P114L CFHR5_ENST00000256785.4_Missense_Mutation_p.P90L NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 90 Sushi 2. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TGTTCCTTTCCTTTTGTGAAA 0.308000 15 29 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19373209 19373209 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:19373209C>T ENST00000263208.5 - 12 1420 c.1164G>A c.(1162-1164)gaG>gaA p.E388E HIRA_ENST00000541063.1_Silent_p.E344E|HIRA_ENST00000340170.4_Silent_p.E388E|HIRA_ENST00000546308.1_Silent_p.E344E NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 388 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) AGAGCTGGGCCTCGGTCATGA 0.597000 21 22 0 0 1 0 0 SH3D19 152503 broad.mit.edu 37 4 152095957 152095957 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:152095957G>A ENST00000409598.4 - 7 1726 c.559C>T c.(559-561)Cca>Tca p.P187S SH3D19_ENST00000427414.2_Missense_Mutation_p.P187S|SH3D19_ENST00000514152.1_Missense_Mutation_p.P187S|SH3D19_ENST00000424281.1_Missense_Mutation_p.P187S|SH3D19_ENST00000409252.2_Missense_Mutation_p.P187S|SH3D19_ENST00000455740.1_Missense_Mutation_p.P187S|SH3D19_ENST00000304527.4_Missense_Mutation_p.P187S Q5HYK7 SH319_HUMAN SH3 domain containing 19 187 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GGGTTGGCTGGGGGCCCTTCT 0.572000 194 408 0 0 1 0 0 SMARCB1 6598 broad.mit.edu 37 22 24145601 24145601 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:24145601A>G ENST00000344921.6 + 5 854 c.647A>G c.(646-648)aAc>aGc p.N216S SMARCB1_ENST00000263121.7_Missense_Mutation_p.N207S|SMARCB1_ENST00000407422.3_Missense_Mutation_p.N198S|SMARCB1_ENST00000407082.3_Missense_Mutation_p.N161S Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 207 2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding. cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(6) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) TTCACCTGGAACATGAATGGT 0.612000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 19 54 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121414344 121414344 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:121414344G>A ENST00000260197.7 + 13 1902 c.1773G>A c.(1771-1773)ggG>ggA p.G591G SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 591 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CAGAACCTGGGGAGAAGAGCA 0.507000 83 103 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25471998 25471998 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:25471998G>A ENST00000278886.6 - 11 1547 c.1474C>T c.(1474-1476)Ctg>Ttg p.L492L NINL_ENST00000422516.1_Silent_p.L492L NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 492 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TTCAGGGCCAGGGTCAGCTTC 0.672000 48 67 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49928671 49928671 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:49928671C>T ENST00000296474.3 - 17 3630 c.3603G>A c.(3601-3603)gaG>gaA p.E1201E MST1R_ENST00000344206.4_Silent_p.E1152E NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1201 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAAACTTCTGCTCTGCCAGGT 0.617000 67 81 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31996995 31996995 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:31996995G>A ENST00000435363.2 + 28 3640 c.3556G>A c.(3556-3558)Ggg>Agg p.G1186R C4B_ENST00000425700.2_Missense_Mutation_p.G1186R NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1186 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity AGCAAGTGCTGGGCTCCTGGG 0.617000 59 176 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112155002 112155002 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:112155002G>A ENST00000457016.1 + 10 1653 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K APC_ENST00000257430.4_Missense_Mutation_p.E425K|APC_ENST00000508376.2_Missense_Mutation_p.E425K P25054 APC_HUMAN adenomatous polyposis coli 425 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GGAGTGGCAGGAAGCTCATGA 0.443000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 30 56 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20525458 20525458 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:20525458C>T ENST00000504154.1 + 13 1458 c.1206C>T c.(1204-1206)tcC>tcT p.S402S SLIT2_ENST00000503837.1_Silent_p.S406S|SLIT2_ENST00000503823.1_Silent_p.S402S|SLIT2_ENST00000273739.5_Silent_p.S406S NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 402 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACCTTCTCTCCCTATATGACA 0.398000 98 107 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189612277 189612277 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:189612277G>A ENST00000264731.3 + 14 2118 c.2029G>A c.(2029-2031)Gag>Aag p.E677K TP63_ENST00000449992.1_Missense_Mutation_p.E498K|TP63_ENST00000354600.5_Missense_Mutation_p.E583K|TP63_ENST00000440651.2_Missense_Mutation_p.E673K|TP63_ENST00000382063.4_Missense_Mutation_p.E592K|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Missense_Mutation_p.E579K NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 677 Transactivation inhibition. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCGCATCAAAGAGGAGGGGGA 0.527000 HNSCC(45;0.13) 36 31 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62567416 62567416 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:62567416G>A ENST00000430451.2 + 6 2126 c.1929G>A c.(1927-1929)ctG>ctA p.L643L NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 643 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ACACTTTGCTGGAATCCTAGG 0.517000 12 24 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14077499 14077499 + Silent SNP G G A rs145518949 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:14077499G>A ENST00000254325.4 - 13 2031 c.1797C>T c.(1795-1797)ggC>ggT p.G599G NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 599 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CGGGCCCGACGCCCTCAGGCA 0.672000 5 184 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813294 106813294 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:106813294C>T ENST00000407775.2 + 8 1234 c.984C>T c.(982-984)ttC>ttT p.F328F RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.F196F|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.F196F|ZFPM2_ENST00000378472.4_Silent_p.F59F NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 328 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGGAAGAATTCCTGCCCCCTG 0.428000 41 128 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4881825 4881825 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:4881825G>A ENST00000361571.5 - 9 2147 c.1736C>T c.(1735-1737)cCt>cTt p.P579L CAMTA2_ENST00000414043.3_Missense_Mutation_p.P603L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P580L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P582L|CAMTA2_ENST00000348066.3_Missense_Mutation_p.P580L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P585L NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 580 IPT/TIG. cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TAAGACACCAGGCTGGACAAG 0.577000 135 87 0 0 1 0 0 GJB6 10804 broad.mit.edu 37 13 20797110 20797110 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:20797110C>T ENST00000356192.6 - 5 1130 c.510G>A c.(508-510)ggG>ggA p.G170G GJB6_ENST00000241124.6_Silent_p.G170G|GJB6_ENST00000400065.3_Silent_p.G170G|GJB6_ENST00000400066.3_Silent_p.G170G NM_001110219.2 NP_001103689.1 O95452 CXB6_HUMAN gap junction protein, beta 6, 30kDa 170 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) AGGGGTCAATCCCACATTTCA 0.443000 33 58 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109367830 109367830 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:109367830C>T ENST00000283195.6 + 10 1510 c.1384C>T c.(1384-1386)Cat>Tat p.H462Y NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 462 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ACAGCTTTTCCATCATTTGCC 0.368000 81 144 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31294703 31294703 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:31294703G>A ENST00000542188.1 - 27 4564 c.4251C>T c.(4249-4251)tcC>tcT p.S1417S RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.S1378S|TRPM1_ENST00000256552.6_Silent_p.S1400S NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1378 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTAAACTTGGGGAAATAGTTT 0.348000 46 65 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67631024 67631024 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:67631024C>T ENST00000272342.5 + 5 1340 c.1210C>T c.(1210-1212)Cct>Tct p.P404S ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 404 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGAACTCTTTCCTTCTAAAAC 0.353000 40 54 0 0 1 0 0 THY1 7070 broad.mit.edu 37 11 119290157 119290157 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:119290157G>A ENST00000284240.5 - 4 1486 c.447C>T c.(445-447)tcC>tcT p.S149S USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Silent_p.S149S|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Silent_p.S132S|USP2-AS1_ENST00000578923.1_RNA NM_006288.3 NP_006279.2 P04216 THY1_HUMAN Thy-1 cell surface antigen 149 angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) GGAGGGAGAGGGAGAGCAGGA 0.602000 64 93 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681841 69681841 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:69681841G>A ENST00000265403.7 + 1 131 c.104G>A c.(103-105)tGg>tAg p.W35* UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.W35* NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 35 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TACAGCCTTTGGATGAATATG 0.443000 34 40 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553770 140553770 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140553770A>G ENST00000231137.3 + 1 1528 c.1354A>G c.(1354-1356)Acc>Gcc p.T452A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 452 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCGCCTTCACCCAAACCTC 0.602000 80 117 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23808674 23808674 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:23808674G>A ENST00000354639.3 + 12 1872 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K STK31_ENST00000433467.2_Missense_Mutation_p.E493K|STK31_ENST00000428484.1_Missense_Mutation_p.E470K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E493K NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 493 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAATTCTGATGAAATACTTAA 0.368000 11 34 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93773740 93773740 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:93773740C>T ENST00000265990.6 + 32 4846 c.4538C>T c.(4537-4539)cCa>cTa p.P1513L BTAF1_ENST00000544642.1_Missense_Mutation_p.P341L NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1513 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CAGGATCTTCCACCTAAAATT 0.368000 31 106 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64124590 64124590 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:64124590G>A ENST00000359902.2 + 14 1919 c.1769G>A c.(1768-1770)gGa>gAa p.G590E CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1413 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCAGGCTTGGGAGTGCAGCCT 0.647000 67 69 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157818074 157818074 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:157818074T>A ENST00000490689.2 - 3 1728 c.195A>T c.(193-195)aaA>aaT p.K65N SHOX2_ENST00000483851.2_Missense_Mutation_p.K194N|SHOX2_ENST00000441443.2_Missense_Mutation_p.K65N|SHOX2_ENST00000389589.4_Missense_Mutation_p.K218N|SHOX2_ENST00000425436.3_Missense_Mutation_p.K194N O60902 SHOX2_HUMAN short stature homeobox 2 194 Poly-Gly. nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GTTTTCTACATTTAGCTCTTC 0.294000 26 68 0 0 1 0 0 HAX1 10456 broad.mit.edu 37 1 154247884 154247884 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:154247884C>T ENST00000328703.7 + 6 892 c.679C>T c.(679-681)Cgg>Tgg p.R227W HAX1_ENST00000532105.1_Missense_Mutation_p.R99W|HAX1_ENST00000457918.2_Missense_Mutation_p.R179W|HAX1_ENST00000483970.2_Missense_Mutation_p.R235W NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 227 Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGAGGAGCGCCGGACTGTGGT 0.498000 Kostmann syndrome 86 177 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46331304 46331304 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:46331304G>A ENST00000359930.4 - 4 1377 c.526C>T c.(526-528)Cgg>Tgg p.R176W SULF2_ENST00000484875.1_Missense_Mutation_p.R176W|SULF2_ENST00000467815.1_Missense_Mutation_p.R176W|SULF2_ENST00000361612.4_Missense_Mutation_p.R176W NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 176 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 ACCCCGTTCCGACACAGCGTG 0.542000 55 44 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32739683 32739683 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:32739683A>G ENST00000531481.1 - 3 422 c.146T>C c.(145-147)aTt>aCt p.I49T CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000335185.5_Missense_Mutation_p.I49T Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 49 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTCATAATGAATTTCTGCTTC 0.338000 44 49 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153695453 153695453 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:153695453C>T ENST00000369682.3 + 18 3336 c.3161C>T c.(3160-3162)cCc>cTc p.P1054L NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1054 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTCCAGGAGCCCCGGGTCCGT 0.672000 126 17 0 0 1 0 0 GSTK1 373156 broad.mit.edu 37 7 142961653 142961653 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:142961653C>T ENST00000479303.1 + 3 225 c.167C>T c.(166-168)cCa>cTa p.P56L GSTK1_ENST00000409500.3_Missense_Mutation_p.P56L|GSTK1_ENST00000358406.5_Missense_Mutation_p.P56L|GSTK1_ENST00000443571.2_Intron|GSTK1_ENST00000494735.1_3'UTR|AC073342.12_ENST00000427392.1_RNA NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 56 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) AACAAGCCTCCAGGTCTGCTT 0.532000 68 215 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45935913 45935913 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:45935913C>T ENST00000374391.2 + 8 1070 c.1017C>T c.(1015-1017)ttC>ttT p.F339F ALOX5_ENST00000542434.1_Silent_p.F339F NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 339 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) ACCCTATTTTCCTCCCTTCGG 0.483000 50 51 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167852752 167852752 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:167852752G>A ENST00000367848.1 - 9 1164 c.667C>T c.(667-669)Cag>Tag p.Q223* ADCY10_ENST00000545172.1_Nonsense_Mutation_p.Q162*|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.Q315* Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 315 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TAGGCATCCTGGATGGCTGGG 0.453000 71 96 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897926 36897926 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:36897926A>C ENST00000301807.6 - 12 3402 c.1505T>G c.(1504-1506)gTt>gGt p.V502G TRANK1_ENST00000428977.2_Missense_Mutation_p.V502G|TRANK1_ENST00000429976.2_Missense_Mutation_p.V1052G NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1052 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTCCCAGTAAACGTGGAATTT 0.527000 9 11 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183491520 183491520 + Nonsense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:183491520C>A ENST00000305135.5 + 17 2501 c.2306C>A c.(2305-2307)tCa>tAa p.S769* NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 769 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAGAACCCTTCAGGAAAAGGA 0.463000 12 48 0.000219431 0.000220664 1 1 0 USP45 85015 broad.mit.edu 37 6 99958081 99958081 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:99958081G>A ENST00000327681.6 - 2 548 c.16C>T c.(16-18)Cca>Tca p.P6S USP45_ENST00000500704.2_Missense_Mutation_p.P6S|USP45_ENST00000329966.5_Missense_Mutation_p.P6S|USP45_ENST00000369231.3_Missense_Mutation_p.P6S|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000369233.2_Missense_Mutation_p.P6S|USP45_ENST00000472914.2_Missense_Mutation_p.P6S NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 6 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) GCTTTAGTTGGATCTTTCACC 0.308000 36 100 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682602 140682602 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140682602G>C ENST00000239451.4 - 1 1010 c.831C>G c.(829-831)atC>atG p.I277M NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 277 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CATTGGCAGGGATTGCTCGAA 0.443000 38 6 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746477 158746477 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:158746477G>A ENST00000339258.1 - 1 948 c.949C>T c.(949-951)Ctt>Ttt p.L317F NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GAAAGTCAAAGATGAGCAAGA 0.378000 58 81 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76083028 76083028 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:76083028C>T ENST00000335749.4 + 13 4216 c.3647C>T c.(3646-3648)cCg>cTg p.P1216L TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1216L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1219L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1219L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1219L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1216L NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1219 Pro-rich. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CCACCGCCACCGCCCCCGCCG 0.667000 37 57 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142030475 142030475 + Nonsense_Mutation SNP G G A rs78926178 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:142030475G>A ENST00000264951.4 - 42 5116 c.4999C>T c.(4999-5001)Caa>Taa p.Q1667* XRN1_ENST00000392981.2_Nonsense_Mutation_p.Q1655* NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1667 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 NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 GTTTCAACTTGAAAAGAAGAT 0.418000 49 25 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182396419 182396419 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:182396419C>T ENST00000397033.2 + 25 3130 c.2700C>T c.(2698-2700)ttC>ttT p.F900F NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 900 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.F900L(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTTTAAATTTCTTGTGTAATT 0.308000 37 50 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60493444 60493444 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:60493444C>T ENST00000450662.2 + 12 1298 c.1227C>T c.(1225-1227)atC>atT p.I409I EFCAB3_ENST00000305286.3_Silent_p.I357I NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 357 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GGCAGAAGATCCGAGGGGATT 0.423000 24 78 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104682758 104682758 + Silent SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:104682758C>G ENST00000526691.1 + 2 516 c.60C>G c.(58-60)acC>acG p.T20T TXNRD1_ENST00000525566.1_Silent_p.T118T|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000542918.1_Silent_p.T18T|TXNRD1_ENST00000429002.2_Silent_p.T118T|TXNRD1_ENST00000388854.3_Silent_p.T20T|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.T67T|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000526390.1_5'UTR NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 118 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 CCGCGGAAACCGATCTGCCCG 0.552000 61 134 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151514067 151514067 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:151514067C>T ENST00000370314.4 - 3 486 c.248G>A c.(247-249)cGa>cAa p.R83Q GABRA3_ENST00000370311.1_Missense_Mutation_p.R83Q|GABRA3_ENST00000535043.1_Missense_Mutation_p.R83Q NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 83 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding p.R83Q(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAGCCCAGGTCGCAGCCGGTT 0.453000 40 9 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9476009 9476009 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:9476009C>T ENST00000407969.1 + 3 240 c.226C>T c.(226-228)Cct>Tct p.P76S SETD5_ENST00000402198.1_Intron|SETD5_ENST00000302463.6_Intron|SETD5_ENST00000406341.1_Intron|SETD5_ENST00000402466.1_Intron Q9C0A6 SETD5_HUMAN SET domain containing 5 59 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TGCTTCTCCCCCTGTCCAGAC 0.527000 15 41 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640164 156640164 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:156640164G>A ENST00000368223.3 - 4 3948 c.3816C>T c.(3814-3816)ccC>ccT p.P1272P NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1272 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity p.P1272P(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGGCCCTCGGGGATCTCCC 0.642000 39 86 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818917 159818917 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:159818917C>T ENST00000497452.1 - 0 517 gaagCGAGATCGAGACCGGGT 0.488000 67 156 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34554741 34554741 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:34554741C>T ENST00000373381.4 - 2 417 c.241G>A c.(241-243)Ggg>Agg p.G81R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 41 CUB 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TATGGGAACCCTGGGCTCTCA 0.537000 20 66 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173939703 173939703 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:173939703C>T ENST00000367696.2 - 9 1625 c.1274G>A c.(1273-1275)aGa>aAa p.R425K RC3H1_ENST00000258349.4_Missense_Mutation_p.R425K|RC3H1_ENST00000367694.2_Missense_Mutation_p.R425K Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 425 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 NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 GCATCCTCCTCTCTGCTTCAT 0.428000 129 135 0 0 1 0 0 KANK3 256949 broad.mit.edu 37 19 8402739 8402739 + Translation_Start_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:8402739C>T ENST00000330915.3 - 0 39 KANK3_ENST00000593649.1_De_novo_Start_InFrame NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GTCAGAGGCACCCTGCAAAAG 0.577000 41 69 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085622 92085622 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:92085622C>T ENST00000298047.6 + 1 361 c.344C>T c.(343-345)gCc>gTc p.A115V FAT3_ENST00000541502.1_Missense_Mutation_p.A115V|FAT3_ENST00000409404.2_Missense_Mutation_p.A115V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 115 Cadherin 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGCAATTCTGCCATATTAAAT 0.378000 TCGA Ovarian(4;0.039) 13 18 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25457264 25457264 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:25457264G>A ENST00000278886.6 - 17 2736 c.2663C>T c.(2662-2664)aCg>aTg p.T888M NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 888 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CGGGCTCTGCGTAGCTTCTGT 0.697000 7 44 0 0 1 0 0 CLMP 79827 broad.mit.edu 37 11 122968515 122968515 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:122968515C>T ENST00000448775.2 - 2 514 c.174G>A c.(172-174)ggG>ggA p.G58G NM_024769.2 NP_079045.1 Q9H6B4 CLMP_HUMAN CXADR-like membrane protein 58 Ig-like C2-type 1. integral to membrane|tight junction endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 CTTTTTGGTTCCCTTCATTAT 0.493000 59 79 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86693821 86693821 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:86693821C>T ENST00000409556.1 + 11 1699 c.1334C>T c.(1333-1335)tCc>tTc p.S445F KDM3A_ENST00000542128.1_Missense_Mutation_p.S393F|KDM3A_ENST00000312912.5_Missense_Mutation_p.S445F|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000409064.1_Missense_Mutation_p.S445F Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 445 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 CATGCACCTTCCCCATCGGAT 0.448000 56 95 0 0 1 0 0 CEP57 9702 broad.mit.edu 37 11 95552020 95552020 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:95552020C>T ENST00000325542.5 + 6 889 c.651C>T c.(649-651)ctC>ctT p.L217L CEP57_ENST00000537677.1_Silent_p.L190L|CEP57_ENST00000541150.1_Silent_p.L208L|CEP57_ENST00000538658.1_Silent_p.L217L|CEP57_ENST00000325486.5_Silent_p.L217L NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 217 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAGCAAAACTCCATGAAGAAG 0.353000 Mosaic Variegated Aneuploidy Syndrome 25 40 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108910146 108910146 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:108910146G>A ENST00000326853.5 + 2 476 c.23G>A c.(22-24)gGg>gAg p.G8E SULT1C2_ENST00000251481.6_Missense_Mutation_p.G8E|SULT1C2_ENST00000409880.1_Missense_Mutation_p.G8E|SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000437390.2_Missense_Mutation_p.G8E NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 8 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TCAGACCTGGGGAAACAGATA 0.483000 38 50 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108380889 108380889 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:108380889G>A ENST00000265843.4 - 6 5455 c.5345C>T c.(5344-5346)tCt>tTt p.S1782F EXPH5_ENST00000428840.1_Missense_Mutation_p.S1706F|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1594F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1775F NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1782 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCACTCCAGAGATGAAGCACT 0.478000 62 67 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228447306 228447306 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:228447306G>A ENST00000570156.2 + 17 5040 c.4966G>A c.(4966-4968)Gag>Aag p.E1656K OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.E128K|OBSCN_ENST00000422127.1_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 642 Ig-like 17. 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 NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCCAGACAGAGGTGACTTG 0.617000 43 113 0 0 1 0 0 PDSS2 57107 broad.mit.edu 37 6 107780385 107780385 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:107780385C>T ENST00000369037.4 - 1 382 c.105G>A c.(103-105)gtG>gtA p.V35V PDSS2_ENST00000369031.4_Silent_p.V35V|PDSS2_ENST00000453874.2_Silent_p.V35V NM_020381.3 NP_065114.3 Q86YH6 DLP1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 2 35 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3) 19 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) GCCAAGAGCCCACCGAGGAGA 0.632000 OREG0017595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 93 59 0 0 1 0 0 TOR4A 54863 broad.mit.edu 37 9 140174065 140174065 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:140174065G>A ENST00000357503.2 + 2 1120 c.924G>A c.(922-924)acG>acA p.T308T NM_017723.2 NP_060193.2 Q9NXH8 CI167_HUMAN torsin family 4, member A 308 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity CCGAGGTCACGCGCTTCGTGC 0.721000 6 11 0 0 1 0 0 PPCDC 60490 broad.mit.edu 37 15 75341001 75341001 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:75341001C>T ENST00000342932.3 + 5 612 c.468C>T c.(466-468)ctC>ctT p.L156L PPCDC_ENST00000567336.1_Silent_p.L124L|PPCDC_ENST00000568649.1_Silent_p.L113L|PPCDC_ENST00000564923.1_Silent_p.L81L|PPCDC_ENST00000563393.1_Silent_p.L33L NM_021823.3 NP_068595.3 Q96CD2 COAC_HUMAN phosphopantothenoylcysteine decarboxylase 156 coenzyme A biosynthetic process|pantothenate metabolic process cytosol phosphopantothenoylcysteine decarboxylase activity breast(1)|cervix(1) 2 TAGACCAGCTCAAGGCCTTTG 0.612000 105 121 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44268743 44268743 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:44268743G>A ENST00000315087.7 - 4 1111 c.451C>T c.(451-453)Ccc>Tcc p.P151S ST8SIA5_ENST00000536490.1_Missense_Mutation_p.P120S|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.P187S NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 151 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 AGCACCTTGGGAAACATGCGG 0.592000 58 139 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2833848 2833848 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:2833848C>T ENST00000317243.5 + 5 813 c.615C>T c.(613-615)tcC>tcT p.S205S ZNF554_ENST00000591265.1_3'UTR NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAAAGGCATCCCTTCACGTAG 0.493000 34 138 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410025 159410025 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:159410025C>T ENST00000423932.3 + 1 514 c.477C>T c.(475-477)gcC>gcT p.A159A RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 159 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCCTGGGGGCCTGCAGCATTG 0.502000 71 128 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121471316 121471316 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:121471316C>T ENST00000257570.5 - 2 699 c.429G>A c.(427-429)agG>agA p.R143R OASL_ENST00000339275.5_Silent_p.R143R NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 143 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCGCAGTCCCCCTGGTCTGGA 0.627000 17 84 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153791335 153791335 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:153791335C>T ENST00000368655.4 - 4 772 c.529G>A c.(529-531)Gaa>Aaa p.E177K NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 177 CR1. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGTCGGGCTTCTTCCAATCGT 0.483000 37 91 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 142053555 142053555 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:142053555G>A ENST00000306799.3 - 1 1061 c.408C>T c.(406-408)ttC>ttT p.F136F RNF150_ENST00000507500.1_Silent_p.F136F|RNF150_ENST00000515673.1_Silent_p.F136F|RNF150_ENST00000420921.2_Intron NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 136 PA. integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) CGTTCTGCAGGAACGCGTTCC 0.642000 12 12 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60854354 60854354 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:60854354G>A ENST00000313733.3 + 7 835 c.633G>A c.(631-633)gtG>gtA p.V211V OSBPL2_ENST00000439951.2_Silent_p.V119V|OSBPL2_ENST00000358053.2_Silent_p.V199V NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 211 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GCAAAAGCGTGGAGGCGGAGC 0.592000 45 53 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17424266 17424266 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:17424266G>A ENST00000302539.4 - 29 3720 c.3595C>T c.(3595-3597)Cca>Tca p.P1199S ABCC8_ENST00000389817.3_Missense_Mutation_p.P1198S NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1198 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GAGAGAAGTGGAAGCTGGGTG 0.602000 123 161 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193374900 193374900 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:193374900C>T ENST00000361510.2 + 23 2444 c.2210C>T c.(2209-2211)tCc>tTc p.S737F OPA1_ENST00000361908.3_Missense_Mutation_p.S719F|OPA1_ENST00000361828.2_Missense_Mutation_p.S700F|OPA1_ENST00000392438.3_Missense_Mutation_p.S682F|OPA1_ENST00000361150.2_Missense_Mutation_p.S683F|OPA1_ENST00000361715.2_Missense_Mutation_p.S701F NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 682 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) GAAGAATTTTCCCGCTTTATG 0.328000 10 31 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492517 74492517 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:74492517G>A ENST00000354431.4 - 8 2046 c.1855C>T c.(1855-1857)Ccc>Tcc p.P619S LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619S NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 619 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGTCCATTGGGAACTTTAAAG 0.289000 16 8 0 0 1 0 0 P2RY14 9934 broad.mit.edu 37 3 150931122 150931122 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:150931122C>T ENST00000309170.3 - 3 1295 c.983G>A c.(982-984)gGa>gAa p.G328E MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.G328E NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 328 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGTTGTATTTCCTCTTTTGAT 0.363000 41 51 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134217817 134217817 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:134217817T>C ENST00000359579.4 + 4 733 c.413T>C c.(412-414)tTc>tCc p.F138S AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 138 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 AAAGCAACGTTCTTGGATGCC 0.458000 36 117 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639138 179639138 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179639138C>T ENST00000589042.1 - 30 7077 c.6853G>A c.(6853-6855)Gaa>Aaa p.E2285K TTN_ENST00000342175.6_Missense_Mutation_p.E2239K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2239K|TTN_ENST00000342992.6_Missense_Mutation_p.E2285K|TTN_ENST00000360870.5_Missense_Mutation_p.E2285K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2239K|TTN_ENST00000591111.1_Missense_Mutation_p.E2285K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2009 Ig-like 12. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTCTAATTCTCCTGAATAT 0.343000 22 45 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392041 117392041 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:117392041C>T ENST00000321322.6 - 6 1198 c.1197G>A c.(1195-1197)acG>acA p.T399T DSCAML1_ENST00000527706.1_Silent_p.T129T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 339 Ig-like C2-type 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTGGGGAGCCCGTCAGGGCAC 0.632000 47 68 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857562 124857562 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:124857562A>G ENST00000529051.1 + 8 1699 c.1440A>G c.(1438-1440)ttA>ttG p.L480L CCDC15_ENST00000344762.5_Silent_p.L480L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 480 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTATCTAGAGACC 0.408000 3 172 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111398779 111398779 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:111398779C>T ENST00000428084.1 - 41 4502 c.4230G>A c.(4228-4230)ccG>ccA p.P1410P DOCK4_ENST00000494651.2_Silent_p.P284P|DOCK4_ENST00000437633.1_Silent_p.P1401P Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1401 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TGATGTTGTCCGGAACACCCT 0.438000 18 21 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66102239 66102239 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:66102239C>T ENST00000349533.6 + 20 3224 c.3039C>T c.(3037-3039)ttC>ttT p.F1013F LEPR_ENST00000406510.3_Silent_p.F80F NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1013 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CCAAGTGCTTCTCTAGCAAAA 0.403000 14 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179477040 179477040 + Missense_Mutation SNP C C T rs148018042 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179477040C>T ENST00000589042.1 - 266 50436 c.50212G>A c.(50212-50214)Gaa>Aaa p.E16738K TTN_ENST00000342175.6_Missense_Mutation_p.E7865K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7798K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14170K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7673K|TTN_ENST00000591111.1_Missense_Mutation_p.E15097K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15097 Ig-like 101. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E7865K(1)|p.E7673K(1)|p.E14170K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTCAATTTCGGTGTAGTCG 0.453000 13 23 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21453400 21453400 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:21453400G>A ENST00000307378.6 - 9 1512 c.792C>T c.(790-792)ttC>ttT p.F264F SLCO1A2_ENST00000537524.1_Silent_p.F132F|SLCO1A2_ENST00000452078.1_Silent_p.F264F|SLCO1A2_ENST00000390670.3_Silent_p.F262F|SLCO1A2_ENST00000458504.1_Silent_p.F132F NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 264 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TGGGCAAAAAGAAAAAAGGAA 0.413000 8 15 0 0 1 0 0 C11orf16 56673 broad.mit.edu 37 11 8948716 8948716 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:8948716C>T ENST00000326053.5 - 4 436 c.330G>A c.(328-330)gaG>gaA p.E110E C11orf16_ENST00000525780.1_Silent_p.E110E|C11orf16_ENST00000528998.1_5'UTR NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 110 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CCCCCTGTCTCTCCAGCTGTG 0.542000 17 18 0 0 1 0 0 B3GALTL 145173 broad.mit.edu 37 13 31843357 31843357 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:31843357C>T ENST00000343307.4 + 8 752 c.603C>T c.(601-603)acC>acT p.T201T B3GALTL_ENST00000461652.2_3'UTR NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 201 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) CTAGGCTTACCAAGAGACTAA 0.299000 40 42 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49087451 49087451 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:49087451C>T ENST00000376265.2 - 4 443 c.381_splice c.e4-1 p.E128_splice CACNA1F_ENST00000376251.1_Splice_Site_p.E63_splice|CACNA1F_ENST00000323022.5_Splice_Site_p.E128_splice NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 128 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TCCACCTGCTCCTGGGGGTGG 0.637000 23 1 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156771 22156771 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:22156771G>A ENST00000397126.4 - 4 1213 c.1065C>T c.(1063-1065)atC>atT p.I355I ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GTTTAGTAAGGATTGAGAACT 0.393000 18 43 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38031558 38031558 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:38031558C>T ENST00000377940.3 + 6 833 c.694C>T c.(694-696)Cat>Tat p.H232Y ZPBP2_ENST00000348931.4_Missense_Mutation_p.H254Y|ZPBP2_ENST00000584588.1_Missense_Mutation_p.H181Y NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 254 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) TATTTTCTACCATAACTTTAA 0.383000 26 25 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529366 57529366 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:57529366G>A ENST00000420713.1 + 4 1311 c.1199G>A c.(1198-1200)aGa>aAa p.R400K NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TACCACAAGAGAACTCATACT 0.403000 37 19 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27278210 27278210 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:27278210C>T ENST00000397501.1 + 9 1228 c.420C>T c.(418-420)ttC>ttT p.F140F PTK2B_ENST00000338238.4_Silent_p.F140F|PTK2B_ENST00000346049.5_Silent_p.F140F|PTK2B_ENST00000517339.1_Silent_p.F140F|PTK2B_ENST00000544172.1_Silent_p.F140F|PTK2B_ENST00000420218.2_Silent_p.F140F NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 140 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CAGAAGACTTCATGGAGAGCC 0.478000 56 130 0 0 1 0 0 ELMOD3 84173 broad.mit.edu 37 2 85590219 85590219 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:85590219G>A ENST00000315658.7 + 4 388 c.e4-1 ELMOD3_ENST00000428955.2_Splice_Site|ELMOD3_ENST00000409890.2_Splice_Site|ELMOD3_ENST00000490508.1_Splice_Site|ELMOD3_ENST00000409344.3_Splice_Site|ELMOD3_ENST00000409013.3_Splice_Site|ELMOD3_ENST00000393852.4_Splice_Site NM_032213.4 NP_115589.2 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 TGCCTCTACAGATCTCAGAGT 0.507000 17 25 0 0 1 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4475576 4475576 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:4475576C>T ENST00000301284.4 + 3 348 c.284C>T c.(283-285)cCt>cTt p.P95L HDGFRP2_ENST00000586684.1_Missense_Mutation_p.P95L NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 95 transcription, DNA-dependent nucleus DNA binding|protein binding TACAGCGCCCCTCCGGTGAGT 0.582000 15 52 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9787362 9787362 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:9787362C>T ENST00000383829.2 + 11 3578 c.3174C>T c.(3172-3174)tcC>tcT p.S1058S BRPF1_ENST00000457855.1_Silent_p.S1052S|BRPF1_ENST00000433861.2_Silent_p.S957S|BRPF1_ENST00000424362.1_Silent_p.S1051S|BRPF1_ENST00000302054.3_Silent_p.S1052S NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 1052 Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) AGGCCTACTCCGTGGGCACTG 0.647000 59 63 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814835 106814835 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:106814835G>A ENST00000407775.2 + 8 2775 c.2525G>A c.(2524-2526)cGg>cAg p.R842Q RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R710Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R710Q|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R573Q NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 842 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAGTCTGAGCGGACGACCACG 0.463000 4 5 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654981 161654981 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:161654981C>T ENST00000426558.1 - 0 61 NR_002595.1 TTCTTGCCACCCTTCTTTGCG 0.502000 8 11 0 0 1 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99218999 99218999 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:99218999C>G ENST00000394152.2 + 5 718 c.391C>G c.(391-393)Cca>Gca p.P131A ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P131A|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P131A|ZSCAN25_ENST00000466948.1_3'UTR NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 TTCTTAGGTTCCATGCCACAG 0.522000 50 116 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176845761 176845761 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:176845761C>T ENST00000367654.2 - 21 3412 c.3399G>A c.(3397-3399)tgG>tgA p.W1133* ASTN1_ENST00000424564.2_Nonsense_Mutation_p.W1125*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.W1125*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.W1125* O14525 ASTN1_HUMAN astrotactin 1 1133 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGTCCACTCCCCACAGCGTGA 0.602000 20 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179592888 179592888 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179592888C>T ENST00000589042.1 - 67 19887 c.19663G>A c.(19663-19665)Gtg>Atg p.V6555M TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5311M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V6238M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6238 Ig-like 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACATTTGACACTTTGCATGTG 0.378000 12 11 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154863263 154863263 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:154863263C>T ENST00000287907.2 + 1 1230 c.654C>T c.(652-654)ttC>ttT p.F218F AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 218 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TGGTGCTCTTCGTGTACTGGA 0.592000 50 30 0 0 1 0 0 RCVRN 5957 broad.mit.edu 37 17 9808452 9808452 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:9808452C>T ENST00000226193.5 - 1 486 c.46G>A c.(46-48)Gag>Aag p.E16K NM_002903.2 NP_002894.1 P35243 RECO_HUMAN recoverin 16 visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 AGCTGCAGCTCCTCCAGGATC 0.622000 10 24 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369264 20369264 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:20369264G>A ENST00000593655.1 - 0 199 ACTACCCTATGGAAAATGGCA 0.378000 51 189 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159779373 159779373 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:159779373C>T ENST00000321935.6 + 6 893 c.807C>T c.(805-807)ctC>ctT p.L269L FCRL6_ENST00000339348.5_Silent_p.L262L|FCRL6_ENST00000368106.3_Silent_p.L262L|FCRL6_ENST00000392235.3_Silent_p.L167L Q6DN72 FCRL6_HUMAN Fc receptor-like 6 262 Ig-like C2-type 3. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) CCTCCCTCCTCTTCCCAGTGA 0.557000 32 40 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11400711 11400711 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:11400711G>A ENST00000227756.4 - 4 1107 c.696C>T c.(694-696)atC>atT p.I232I NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 CCCTGGAGCGGATGAGGCCTT 0.582000 24 37 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26620782 26620782 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:26620782G>A ENST00000374222.1 - 9 937 c.473C>T c.(472-474)cCc>cTc p.P158L UBXN11_ENST00000374221.3_Missense_Mutation_p.P158L|UBXN11_ENST00000436301.2_Missense_Mutation_p.P83L|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000357089.4_Missense_Mutation_p.P125L|UBXN11_ENST00000535108.1_5'UTR|UBXN11_ENST00000374217.2_Missense_Mutation_p.P125L Q5T124 UBX11_HUMAN UBX domain protein 11 158 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 CTGGTCCATGGGCTCGCCCAC 0.612000 56 79 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32014231 32014231 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:32014231G>T ENST00000375244.3 - 31 10528 c.10327C>A c.(10327-10329)Ccc>Acc p.P3443T TNXB_ENST00000375247.2_Missense_Mutation_p.P3441T P22105 TENX_HUMAN tenascin XB 3488 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TTCTCCAGGGGAGCTGTGCAG 0.632000 21 22 5.45024e-15 5.52222e-15 1 1 0 HLA-DQA1 3117 broad.mit.edu 37 6 32609155 32609155 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:32609155G>A ENST00000343139.5 + 2 253 c.151G>A c.(151-153)Gaa>Aaa p.E51K HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.E51K|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.E51K NM_002122.3 NP_002113.2 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ alpha 1 51 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 GTACACCCATGAATTTGATGG 0.532000 71 57 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4870395 4870395 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:4870395G>A ENST00000322101.2 - 1 119 c.44C>T c.(43-45)tCa>tTa p.S15L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGGGCCATTGAAGTGCTGCT 0.498000 68 103 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61877874 61877874 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:61877874T>G ENST00000578681.1 + 7 1119 c.518T>G c.(517-519)gTt>gGt p.V173G DDX42_ENST00000583590.1_Missense_Mutation_p.V173G|DDX42_ENST00000457800.2_Missense_Mutation_p.V173G|DDX42_ENST00000389924.2_Missense_Mutation_p.V173G|DDX42_ENST00000359353.5_Missense_Mutation_p.V54G NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 173 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GCTGGTGTGGTTCAGGAGGAA 0.408000 55 75 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48801704 48801704 + Missense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:48801704A>T ENST00000314191.2 - 34 4204 c.4148T>A c.(4147-4149)tTc>tAc p.F1383Y PRKDC_ENST00000338368.3_Missense_Mutation_p.F1383Y|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1384 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCCGATGTTGAAACCTATGCT 0.453000 Non-homologous end-joining 45 27 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18644410 18644410 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:18644410G>A ENST00000433979.1 + 19 2704 c.2588G>A c.(2587-2589)aGa>aAa p.R863K PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R904K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R863K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 863 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GAAATTGGCAGACTAGAAGAG 0.333000 38 56 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9784410 9784410 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:9784410T>G ENST00000536656.1 + 22 3075 c.2867T>G c.(2866-2868)tTc>tGc p.F956C PIK3CD_ENST00000377346.4_Missense_Mutation_p.F932C|PIK3CD_ENST00000361110.2_Missense_Mutation_p.F956C O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 932 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CGTGTCCCATTCATCCTCACC 0.517000 105 225 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53758000 53758000 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:53758000C>T ENST00000288139.3 + 15 2252 c.2134C>T c.(2134-2136)Cct>Tct p.P712S CACNA1D_ENST00000350061.5_Missense_Mutation_p.P692S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P692S NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 692 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGACAATTTCCCTCAAGCACT 0.478000 40 51 0 0 1 0 0 ZMYND15 84225 broad.mit.edu 37 17 4645012 4645012 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:4645012G>A ENST00000433935.1 + 3 785 c.728G>A c.(727-729)tGg>tAg p.W243* ZMYND15_ENST00000269289.6_Nonsense_Mutation_p.W243*|ZMYND15_ENST00000592813.1_Nonsense_Mutation_p.W243*|ZMYND15_ENST00000573751.2_Nonsense_Mutation_p.W243* NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 243 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CTGGCTCCTTGGGCCTATGCT 0.622000 37 65 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104157369 104157369 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:104157369C>T ENST00000369966.3 + 8 838 c.588C>T c.(586-588)gcC>gcT p.A196A NFKB2_ENST00000189444.6_Silent_p.A196A|NFKB2_ENST00000428099.1_Silent_p.A196A NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 196 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) GCTTCTCTGCCTTCCTTAGAG 0.582000 T IGH@ B-NHL 128 248 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110739 55110739 + Silent SNP G G A rs78513473 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:55110739G>A ENST00000314721.2 + 1 113 c.63G>A c.(61-63)gtG>gtA p.V21V NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V21V(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 ATCCTGATGTGAAAAAAACAT 0.413000 19 28 0 0 1 0 0 SRSF5 6430 broad.mit.edu 37 14 70238062 70238062 + Missense_Mutation SNP G G A rs142745234 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:70238062G>A ENST00000553521.1 + 9 2156 c.703G>A c.(703-705)Gtg>Atg p.V235M SRSF5_ENST00000394366.2_Missense_Mutation_p.V235M|SRSF5_ENST00000557154.1_Missense_Mutation_p.V235M|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553635.1_Missense_Mutation_p.V232M Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 235 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 TAGGTCTCCCGTGCCTGAGAA 0.562000 70 161 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27026359 27026359 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:27026359G>A ENST00000354760.3 + 6 534 c.499G>A c.(499-501)Gat>Aat p.D167N CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 167 Beta/gamma crystallin 'Greek key' 4. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 GCTGGAATGCGATCACCATTC 0.547000 21 33 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47454229 47454229 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:47454229C>T ENST00000265562.4 + 25 4542 c.4465C>T c.(4465-4467)Ctc>Ttc p.L1489F PTPN23_ENST00000431726.1_Missense_Mutation_p.L1363F NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1489 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGACCTGGTCCTCGGTGGGGA 0.627000 108 119 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40366208 40366208 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:40366208C>T ENST00000221347.6 - 30 14033 c.14026G>A c.(14026-14028)Ggc>Agc p.G4676S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4676 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCAGCGGGCCGTCGGTGGCG 0.706000 34 99 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584283 82584283 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:82584283A>G ENST00000423517.2 - 5 6323 c.5986T>C c.(5986-5988)Tca>Cca p.S1996P PCLO_ENST00000333891.8_Missense_Mutation_p.S1996P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1927 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTGTTCTGAAAGTCTTATC 0.383000 53 48 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150923080 150923080 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:150923080A>G ENST00000271640.5 + 13 1917 c.1727A>G c.(1726-1728)cAt>cGt p.H576R SETDB1_ENST00000368969.4_Missense_Mutation_p.H576R|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TACTTACCTCATGTCTGCAGC 0.582000 52 117 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32913867 32913867 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:32913867C>T ENST00000544455.1 + 11 5602 c.5375C>T c.(5374-5376)tCc>tTc p.S1792F BRCA2_ENST00000380152.3_Missense_Mutation_p.S1792F NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1792 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAGTAATATCCAATGTAAAA 0.328000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 29 39 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353703 113353703 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:113353703G>A ENST00000458497.1 + 11 3279 c.3000G>A c.(2998-3000)ggG>ggA p.G1000G ALPK1_ENST00000177648.9_Silent_p.G1000G|ALPK1_ENST00000504176.2_Silent_p.G922G NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1000 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AGAATACGGGGGTTTTTAAGC 0.488000 83 59 0 0 1 0 0 ZUFSP 221302 broad.mit.edu 37 6 116988073 116988073 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:116988073A>C ENST00000368576.3 - 2 526 c.283T>G c.(283-285)Tgt>Ggt p.C95G ZUFSP_ENST00000368573.1_Missense_Mutation_p.C95G|ZUFSP_ENST00000471919.1_5'UTR NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 95 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) TTAGATGCACAACCTGAAAGA 0.333000 22 64 0 0 1 0 0 MIR320A 407037 broad.mit.edu 37 8 22102540 22102540 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:22102540G>A ENST00000385302.1 - 0 16 NR_029714.1 GGAAGAGAAGGCGGAGGGGAG 0.657000 31 85 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3182248 3182248 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:3182248C>T ENST00000355072.5 + 36 4764 c.4619C>T c.(4618-4620)cCg>cTg p.P1540L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1540 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ACAGCCATACCGGCTCTGCAG 0.423000 31 66 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94527378 94527378 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:94527378G>A ENST00000330836.5 - 4 1409 c.1278C>T c.(1276-1278)tcC>tcT p.S426S DDX24_ENST00000544005.1_Silent_p.S176S|DDX24_ENST00000555054.1_Silent_p.S383S NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 426 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GTTTCTGCGTGGACATTCCAC 0.423000 90 22 0 0 1 0 0 NDUFS6 4726 broad.mit.edu 37 5 1816024 1816024 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:1816024C>G ENST00000274137.5 + 4 387 c.369C>G c.(367-369)caC>caG p.H123Q NM_004553.4 NP_004544.1 O75380 NDUS6_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) 123 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 7 NADH(DB00157) GACAGCACCACCACTAGAGCG 0.522000 9 248 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11117644 11117644 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:11117644C>T ENST00000304623.8 - 13 2384 c.2195G>A c.(2194-2196)aGg>aAg p.R732K CTNND2_ENST00000359640.2_Missense_Mutation_p.R732K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R641K|CTNND2_ENST00000503622.1_Missense_Mutation_p.R395K|CTNND2_ENST00000458100.2_Missense_Mutation_p.R299K NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 732 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CTCTCTCATCCTTCTGCGGGC 0.532000 56 85 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61559941 61559941 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:61559941G>A ENST00000290866.4 + 8 1257 c.1233G>A c.(1231-1233)ggG>ggA p.G411G ACE_ENST00000538928.1_Silent_p.G411G|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.G411G NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 411 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TGCGTCGGGGGGCCAACCCCG 0.607000 127 148 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113841986 113841986 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:113841986C>T ENST00000297405.5 - 12 2032 c.1788G>A c.(1786-1788)ctG>ctA p.L596L CSMD3_ENST00000352409.3_Silent_p.L596L|CSMD3_ENST00000343508.3_Silent_p.L556L|CSMD3_ENST00000455883.2_Silent_p.L492L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 596 CUB 3. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCCAATCTCCAGATCAAATT 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 33 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163302799 163302799 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:163302799G>A ENST00000332142.5 - 7 1382 c.1283C>T c.(1282-1284)tCt>tTt p.S428F KCNH7_ENST00000328032.4_Missense_Mutation_p.S421F NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 428 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GAAGGCTGCAGAGTAGGGAGT 0.428000 23 31 0 0 1 0 0 POFUT2 23275 broad.mit.edu 37 21 46685477 46685477 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:46685477G>A ENST00000349485.5 - 9 1236 c.1210C>T c.(1210-1212)Ccc>Tcc p.P404S POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR NM_133635.4 NP_598368.2 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 404 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) GTCGTCTTGGGGTCCAACCCC 0.517000 34 75 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17898033 17898033 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:17898033C>G ENST00000448223.2 - 14 1590 c.1321G>C c.(1321-1323)Gac>Cac p.D441H SMC6_ENST00000381272.4_Missense_Mutation_p.D467H|SMC6_ENST00000402989.1_Missense_Mutation_p.D441H|SMC6_ENST00000351948.4_Missense_Mutation_p.D441H NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 441 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCTTCTTTGTCCTTTTCTATG 0.299000 15 67 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4927261 4927261 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:4927261G>A ENST00000320785.5 + 23 3484 c.3127G>A c.(3127-3129)Gcg>Acg p.A1043T NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 1043 Pro-rich. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 ATCCCGGGGAGCGGGTTCTGC 0.692000 29 52 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721205 160721205 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:160721205C>T ENST00000274547.2 - 11 1639 c.1422G>A c.(1420-1422)ctG>ctA p.L474L GABRB2_ENST00000520240.1_Silent_p.L436L|GABRB2_ENST00000517901.1_Silent_p.L373L|GABRB2_ENST00000393959.1_Silent_p.L474L|GABRB2_ENST00000353437.6_Silent_p.L436L|GABRB2_ENST00000517547.1_Silent_p.L276L NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 474 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGGTGATTTTCAGTTGGGAGG 0.502000 38 7 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147815211 147815211 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:147815211G>A ENST00000361727.3 + 16 2901 c.2383_splice c.e16-1 p.R795_splice NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 795 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTCCCACAGGGAATTATTGGA 0.418000 HNSCC(39;0.1) 36 85 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542902 55542902 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:55542902G>A ENST00000220676.1 + 4 6608 c.6460G>A c.(6460-6462)Gaa>Aaa p.E2154K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 2154 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.E2154K(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGAGAACAAGAAGATTTATA 0.313000 14 15 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66258746 66258746 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:66258746G>T ENST00000532677.1 + 7 1148 c.747G>T c.(745-747)gtG>gtT p.V249V DPP3_ENST00000360510.2_Silent_p.V230V|DPP3_ENST00000531863.1_Silent_p.V250V|DPP3_ENST00000453114.1_Silent_p.V230V|DPP3_ENST00000530165.1_Silent_p.V200V|DPP3_ENST00000541961.1_Silent_p.V230V NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 230 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 ACTCTGAGGTGACTTCCAAGC 0.557000 OREG0021109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 106 113 1.6696e-61 1.72529e-61 1 1 0 TXLNB 167838 broad.mit.edu 37 6 139591700 139591700 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:139591700G>T ENST00000358430.3 - 4 812 c.580C>A c.(580-582)Caa>Aaa p.Q194K NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 194 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TTTTCTTTTTGAATTTGTACC 0.438000 34 17 2.09667e-21 2.1378e-21 1 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74506959 74506959 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:74506959A>G ENST00000354431.4 - 7 1847 c.1656T>C c.(1654-1656)gtT>gtC p.V552V LRRIQ3_ENST00000395089.1_Silent_p.V552V NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 552 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GTTTTTGCTTAACAATCAGGC 0.313000 6 23 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28598157 28598157 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:28598157C>T ENST00000434452.1 - 9 1297 c.1143G>A c.(1141-1143)aaG>aaA p.K381K DSC3_ENST00000360428.4_Silent_p.K381K NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 381 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TAATTAAATCCTTATCTTCTA 0.303000 12 38 0 0 1 0 0 RNF32 140545 broad.mit.edu 37 7 156447389 156447389 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:156447389G>A ENST00000392741.2 + 3 482 c.394G>A c.(394-396)Gaa>Aaa p.E132K RNF32_ENST00000317955.5_Missense_Mutation_p.E132K|RNF32_ENST00000343665.4_Missense_Mutation_p.E132K|RNF32_ENST00000432459.2_Missense_Mutation_p.E132K|RNF32_ENST00000405335.1_Missense_Mutation_p.E132K|RNF32_ENST00000311822.8_Missense_Mutation_p.E132K|RNF32_ENST00000392743.2_Missense_Mutation_p.E132K|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000480011.1_3'UTR Q9H0A6 RNF32_HUMAN ring finger protein 32 132 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CATCTGTAAAGAAGAATTCGA 0.557000 52 57 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363477 22363477 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:22363477G>A ENST00000397121.2 - 3 1359 c.1042C>T c.(1042-1044)Cga>Tga p.R348* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTGAGGATCGATTAAAAGCT 0.413000 4 87 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25488688 25488688 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:25488688C>T ENST00000453082.2 + 0 2316 NR_003343.1 ACACCCTGGTCTCCTGCACTA 0.592000 51 69 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215953204 215953204 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:215953204C>T ENST00000366943.2 - 55 11306 c.10920G>A c.(10918-10920)agG>agA p.R3640R USH2A_ENST00000307340.3_Silent_p.R3640R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3640 Fibronectin type-III 21. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.R3640S(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATGCTGTCTCCTGTCAGTGG 0.493000 HNSCC(13;0.011) 19 46 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182408 57182408 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:57182408C>T ENST00000504228.1 + 6 2845 c.2740C>T c.(2740-2742)Cct>Tct p.P914S KIAA1211_ENST00000541073.1_Missense_Mutation_p.P907S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P914S Q6ZU35 K1211_HUMAN KIAA1211 914 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GAAGCAAGCCCCTTCCACCCG 0.687000 33 27 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48908545 48908545 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:48908545C>T ENST00000263269.3 + 3 1108 c.1020C>T c.(1018-1020)ttC>ttT p.F340F NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 340 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) ATTATGGTTTCCTTCCTGAGC 0.682000 21 21 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 597478 597478 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:597478C>T ENST00000219611.2 + 4 1003 c.640C>T c.(640-642)Cca>Tca p.P214S LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 GGCCAACCCCCCAGCCACCAG 0.746000 23 4 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431695 135431695 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:135431695G>A ENST00000394143.1 + 6 6121 c.5830G>A c.(5830-5832)Gga>Aga p.G1944R GPR112_ENST00000412101.1_Missense_Mutation_p.G1739R|GPR112_ENST00000370652.1_Missense_Mutation_p.G1944R|GPR112_ENST00000394141.1_Missense_Mutation_p.G1739R|GPR112_ENST00000287534.4_Missense_Mutation_p.G1881R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1944 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCCTATGTCAGGAATTCTTCC 0.423000 44 4 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20702391 20702391 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:20702391C>T ENST00000307493.4 - 1 187 c.120G>A c.(118-120)tgG>tgA p.W40* ACSM1_ENST00000520010.1_Nonsense_Mutation_p.W40*|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 40 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CATAGTCATTCCATCTTGGGG 0.498000 101 15 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74632090 74632090 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:74632090G>A ENST00000358632.4 - 6 1216 c.521C>T c.(520-522)tCc>tTc p.S174F CYP11A1_ENST00000268053.6_Missense_Mutation_p.S332F|CYP11A1_ENST00000419019.2_Missense_Mutation_p.S174F|CYP11A1_ENST00000541301.1_3'UTR NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 332 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CAGGGTCATGGACGTCTGGTG 0.582000 44 74 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7295773 7295773 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:7295773C>T ENST00000537408.1 + 11 2287 c.1749C>T c.(1747-1749)ccC>ccT p.P583P CLSTN3_ENST00000266546.6_Silent_p.P571P Q9BQT9 CSTN3_HUMAN calsyntenin 3 571 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACGTGAACCCCTCACAGTCCC 0.622000 102 146 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 16068475 16068475 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:16068475C>T ENST00000268712.3 - 5 693 c.435_splice c.e5-1 p.D146_splice NCOR1_ENST00000395851.1_Splice_Site_p.D146_splice|NCOR1_ENST00000395848.1_Splice_Site_p.D37_splice NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 146 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.D146Y(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AATGCTGGATCCTTTAGAGAA 0.393000 17 119 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72030778 72030778 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:72030778G>A ENST00000378743.3 - 8 2145 c.1787C>T c.(1786-1788)cCt>cTt p.P596L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 596 Pro-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TGGTAGAGGAGGTAGAGGTTC 0.438000 56 613 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215368394 215368394 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:215368394G>A ENST00000444842.2 + 6 1072 c.922G>A c.(922-924)Gga>Aga p.G308R KCNK2_ENST00000391894.2_Missense_Mutation_p.G293R|KCNK2_ENST00000391895.2_Missense_Mutation_p.G304R NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 308 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GAGCATGATTGGAGATTGGCT 0.383000 90 153 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220427190 220427190 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:220427190C>G ENST00000404537.1 - 8 2943 c.2887G>C c.(2887-2889)Gag>Cag p.E963Q OBSL1_ENST00000265318.4_Missense_Mutation_p.E963Q|OBSL1_ENST00000289656.3_Missense_Mutation_p.E550Q|OBSL1_ENST00000603926.1_Missense_Mutation_p.E963Q|OBSL1_ENST00000373876.1_Missense_Mutation_p.E963Q|OBSL1_ENST00000373873.4_Missense_Mutation_p.E963Q NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 963 Ig-like 7. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CCGGAGTCCTCGAGCTGGACA 0.647000 29 151 0 0 1 0 0 ART5 116969 broad.mit.edu 37 11 3661546 3661546 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:3661546G>T ENST00000397068.3 - 2 505 c.113C>A c.(112-114)aCc>aAc p.T38N ART5_ENST00000397067.3_Missense_Mutation_p.T38N|ART5_ENST00000359918.4_Missense_Mutation_p.T38N NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 38 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCCACATAGGTATCGTCAAA 0.597000 42 65 1.52319e-26 1.55504e-26 1 1 0 CWH43 80157 broad.mit.edu 37 4 49005925 49005925 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:49005925G>A ENST00000226432.4 + 7 1159 c.976G>A c.(976-978)Gaa>Aaa p.E326K CWH43_ENST00000513409.1_Missense_Mutation_p.E299K NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 326 GPI anchor biosynthetic process integral to membrane p.E326K(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TTATCTTCTAGAAATATTTTT 0.423000 22 32 0 0 1 0 0 GOLGA6L2 283685 broad.mit.edu 37 15 23689122 23689122 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:23689122C>T ENST00000567107.1 - 5 445 c.393G>A c.(391-393)ggG>ggA p.G131G GOLGA6L2_ENST00000345070.5_5'UTR|GOLGA6L2_ENST00000312015.5_Silent_p.G131G golgin A6 family-like 2 breast(1)|endometrium(7) 8 TGCCCAGGTTCCCATCTTCAA 0.512000 6 5 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147175 52147175 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:52147175C>T ENST00000360844.6 - 5 910 c.869G>A c.(868-870)gGa>gAa p.G290E SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 290 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GAGGGCTTTTCCCTCCCGGAA 0.597000 45 65 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 29628691 29628691 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:29628691G>A ENST00000434693.2 + 4 1091 c.391G>A c.(391-393)Gct>Act p.A131T RBMS3_ENST00000445033.1_Missense_Mutation_p.A132T|RBMS3_ENST00000452462.1_Missense_Mutation_p.A132T|RBMS3_ENST00000273139.9_Missense_Mutation_p.A132T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A132T|RBMS3_ENST00000383767.2_Missense_Mutation_p.A132T|RBMS3_ENST00000456853.1_Missense_Mutation_p.A132T|RBMS3_ENST00000383766.2_Missense_Mutation_p.A131T NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 132 RRM 1. cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GGCACAGATGGCTAAGGTAAG 0.423000 31 45 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78293183 78293183 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:78293183C>T ENST00000319921.4 + 17 3236 c.3095C>T c.(3094-3096)gCt>gTt p.A1032V RNF213_ENST00000508628.2_Intron|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000456466.1_Intron NM_020954.3 NP_066005.2 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CAGCTAAGGGCTATGAAGCAC 0.572000 77 106 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32367099 32367099 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:32367099G>C ENST00000298386.2 + 16 1731 c.1660G>C c.(1660-1662)Gta>Cta p.V554L RXFP2_ENST00000380314.1_Missense_Mutation_p.V530L NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 554 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTTAATAGCTGTAATTCCATT 0.388000 23 41 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119065134 119065134 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:119065134G>A ENST00000328252.3 + 10 3421 c.3052G>A c.(3052-3054)Gga>Aga p.G1018R RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.G56R NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1018 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CACGCCCCAGGGATTCCTGGA 0.517000 53 14 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768340 57768340 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:57768340G>A ENST00000371030.2 + 1 2266 c.2266G>A c.(2266-2268)Gaa>Aaa p.E756K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 756 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGGGAGGCTGGAACTGGGGTG 0.642000 8 27 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034881 96034881 + Missense_Mutation SNP A A G rs148967607 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:96034881A>G ENST00000369293.1 + 2 700 c.566A>G c.(565-567)tAt>tGt p.Y189C MANEA_ENST00000358812.4_Intron Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 0 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) atatatatatatgtgtgtttg 0.299000 3 28 0 0 1 0 0 DUS4L 11062 broad.mit.edu 37 7 107217950 107217950 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:107217950C>T ENST00000265720.3 + 8 1261 c.899C>T c.(898-900)gCt>gTt p.A300V DUS4L_ENST00000402620.1_Missense_Mutation_p.A179V NM_001270419.1|NM_181581.2 NP_001257348.1|NP_853559.1 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like (S. cerevisiae) 300 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 GTATTTAATGCTCTGTCAAGC 0.353000 31 71 0 0 1 0 0 TRBV6-4 28603 broad.mit.edu 37 7 142250815 142250815 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:142250815C>T ENST00000390360.3 - 0 252 TCAGGGACTTCTCCTTTGCCA 0.473000 20 42 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183563 197183563 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:197183563C>A ENST00000260983.2 - 9 2233 c.2051G>T c.(2050-2052)tGt>tTt p.C684F HECW2_ENST00000409111.1_Missense_Mutation_p.C328F NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 684 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.C684S(1) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTCTGCTGCACAGGCTCCGTC 0.602000 35 45 5.71845e-15 5.79034e-15 1 1 0 PSG4 5672 broad.mit.edu 37 19 43699348 43699348 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:43699348C>T ENST00000405312.3 - 4 1024 c.787G>A c.(787-789)Gaa>Aaa p.E263K PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 263 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CTCTTAGGTTCACAGGTGAAG 0.453000 185 208 0 0 1 0 0 CHRNA5 1138 broad.mit.edu 37 15 78885442 78885442 + Missense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:78885442A>T ENST00000299565.5 + 6 1454 c.1254A>T c.(1252-1254)gaA>gaT p.E418D CHRNA3_ENST00000348639.3_3'UTR|CHRNA5_ENST00000559554.1_Missense_Mutation_p.K156M NM_000745.3 NP_000736.2 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 (neuronal) 418 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 AGGTTGTTGAAGATTGGAAAT 0.318000 56 76 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179632510 179632510 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179632510G>A ENST00000589042.1 - 40 9671 c.9447C>T c.(9445-9447)atC>atT p.I3149I TTN_ENST00000342175.6_Silent_p.I3103I|TTN_ENST00000359218.5_Silent_p.I3103I|TTN_ENST00000342992.6_Silent_p.I3149I|TTN_ENST00000360870.5_Silent_p.I3149I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I3103I|TTN_ENST00000591111.1_Silent_p.I3149I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2884 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAATACTTCGGATGCGAACAT 0.403000 88 112 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183479380 183479380 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:183479380G>T ENST00000305135.5 + 14 1937 c.1742G>T c.(1741-1743)gGa>gTa p.G581V NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 581 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCTATAACAGGAGGACTTGGA 0.438000 76 65 8.6838e-40 8.91625e-40 1 1 0 ARHGEF40 55701 broad.mit.edu 37 14 21542540 21542540 + Silent SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:21542540T>G ENST00000298694.4 + 3 778 c.651T>G c.(649-651)ctT>ctG p.L217L ARHGEF40_ENST00000298693.3_Silent_p.L217L Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 217 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GCCCTCCACTTCCTGAGGAGG 0.612000 15 30 0 0 1 0 0 MANF 7873 broad.mit.edu 37 3 51426377 51426377 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:51426377C>T ENST00000528157.1 + 4 702 c.406C>T c.(406-408)Cga>Tga p.R136* MANF_ENST00000470900.1_3'UTR NM_006010.4 NP_006001.3 P55145 MANF_HUMAN mesencephalic astrocyte-derived neurotrophic factor 136 response to unfolded protein extracellular region growth factor activity lung(1)|ovary(1) 2 GAAGAAGCTCCGAGTTAAAGA 0.527000 OREG0015594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 13 0 0 1 0 0 PITPNC1 26207 broad.mit.edu 37 17 65688735 65688735 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:65688735G>A ENST00000335257.6 + 9 1077 c.730G>A c.(730-732)Gcc>Acc p.A244T PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.A244T|PITPNC1_ENST00000580974.1_3'UTR Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 244 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CACTCAGGAAGCCACCAACAA 0.468000 73 110 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172644339 172644339 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:172644339G>A ENST00000422440.2 - 16 1741 c.1704C>T c.(1702-1704)ctC>ctT p.L568L SLC25A12_ENST00000392592.4_Silent_p.L461L NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 568 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CTTCTTCCCGGAGAATCTTCC 0.582000 39 67 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940123 31940123 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:31940123G>A ENST00000375331.2 + 2 431 c.265G>A c.(265-267)Gac>Aac p.D89N STK19_ENST00000375333.2_Missense_Mutation_p.D89N NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 89 D -> N (in a metastatic melanoma sample; somatic mutation). nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.D89N(4) skin(5)|upper_aerodigestive_tract(2) 7 TGCGCCGGAAGACCCTATTTT 0.582000 51 177 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39086356 39086356 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:39086356C>T ENST00000591517.1 - 28 2221 c.2193G>A c.(2191-2193)ctG>ctA p.L731L MAP4K1_ENST00000396857.2_Silent_p.L731L|MAP4K1_ENST00000589130.1_Silent_p.L727L|MAP4K1_ENST00000586296.1_Intron NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 731 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCGGGGTCACCAGCTTCACAG 0.572000 24 27 0 0 1 0 0 CLNS1A 1207 broad.mit.edu 37 11 77330736 77330736 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:77330736C>T ENST00000525428.1 - 6 741 c.651G>A c.(649-651)ggG>ggA p.G217G CLNS1A_ENST00000525064.1_Silent_p.G159G|CLNS1A_ENST00000528364.1_Silent_p.G217G|CLNS1A_ENST00000532069.1_Silent_p.G147G|CLNS1A_ENST00000263309.3_Silent_p.G183G NM_001293.2 NP_001284.1 P54105 ICLN_HUMAN chloride channel, nucleotide-sensitive, 1A 217 blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly cytoskeleton|cytosol|nucleus|plasma membrane protein binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19) Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) CCACCTCCATCCCATCTAAAC 0.388000 52 56 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6302456 6302456 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:6302456C>T ENST00000344683.5 + 8 1289 c.1213C>T c.(1213-1215)Ctt>Ttt p.L405F MCPH1_ENST00000522905.1_Missense_Mutation_p.L357F|MCPH1_ENST00000519480.1_Missense_Mutation_p.L405F NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 405 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CCTGGAGGCTCTTAGCTGTGG 0.512000 52 31 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69718851 69718851 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:69718851C>T ENST00000349945.1 + 12 3022 c.1470C>T c.(1468-1470)tgC>tgT p.C490C NFAT5_ENST00000354436.2_Silent_p.C566C|NFAT5_ENST00000567239.1_Silent_p.C583C|NFAT5_ENST00000566899.1_Silent_p.C490C|NFAT5_ENST00000393742.2_Silent_p.C490C|NFAT5_ENST00000432919.1_Silent_p.C584C NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 566 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAAGACCTTGCTCTTTTGAAG 0.343000 54 14 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043008 25043008 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:25043008G>A ENST00000216336.2 - 5 639 c.603C>T c.(601-603)tcC>tcT p.S201S NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 201 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GGGGGCCTCCGGAATCCCCCT 0.607000 25 71 0 0 1 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805693 20805693 + RNA SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:20805693T>C ENST00000577537.1 + 0 877 RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA GGCGCCGGCTTCACCCTCGGC 0.557000 6 43 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139175232 139175232 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:139175232A>G ENST00000423192.1 + 9 1300 c.1139A>G c.(1138-1140)tAt>tGt p.Y380C ECT2L_ENST00000541398.1_Missense_Mutation_p.Y311C|ECT2L_ENST00000367682.2_Missense_Mutation_p.Y380C|ECT2L_ENST00000495970.1_3'UTR Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 380 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TTAGGAAGCTATGTGGCCACT 0.433000 """N, Splice, Mis""" ETP ALL 82 210 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987384 22987384 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:22987384C>T ENST00000509305.1 + 3 607 c.261C>T c.(259-261)gtC>gtT p.V87V C1QB_ENST00000314933.6_Silent_p.V89V P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 89 Collagen-like 2. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CAGGAAAAGTCGGCCCCAAGG 0.617000 17 15 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94120355 94120355 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:94120355C>T ENST00000369303.4 - 3 880 c.696G>A c.(694-696)ggG>ggA p.G232G EPHA7_ENST00000369297.1_Silent_p.G232G NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 232 Cys-rich. G -> R (in a metastatic melanoma sample; somatic mutation). integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGACACATGTCCCTCGAACCT 0.463000 18 39 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113380144 113380144 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:113380144G>A ENST00000316407.4 - 7 795 c.385C>T c.(385-387)Ctt>Ttt p.L129F KIAA2018_ENST00000478658.1_Missense_Mutation_p.L129F|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 129 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GAGTTTTTAAGATTTCCTTTC 0.368000 28 62 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738948 138738948 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:138738948A>C ENST00000329447.5 - 1 820 c.556T>G c.(556-558)Ttc>Gtc p.F186V MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 186 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TAGGGGATGAACATACTTCTA 0.632000 3 114 0 0 1 0 0 NKX2-1 7080 broad.mit.edu 37 14 36987004 36987004 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:36987004G>A ENST00000518149.1 - 3 1200 c.595C>T c.(595-597)Cac>Tac p.H199Y RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.H199Y|NKX2-1_ENST00000354822.5_Missense_Mutation_p.H229Y|NKX2-1_ENST00000522719.2_Missense_Mutation_p.H199Y P43699 NKX21_HUMAN NK2 homeobox 1 199 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) GGCGTCAGGTGGATCATGCTG 0.622000 A NSCLC 25 13 0 0 1 0 0 ENAH 55740 broad.mit.edu 37 1 225692710 225692710 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:225692710G>A ENST00000366844.2 - 12 2035 c.1584C>T c.(1582-1584)tcC>tcT p.S528S ENAH_ENST00000284563.6_Intron|ENAH_ENST00000366843.2_Intron NM_001008493.1 NP_001008493.1 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) 528 EVH2. axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) ATGAATCATAGGACCTGTTGT 0.368000 36 37 0 0 1 0 0 AP2A1 160 broad.mit.edu 37 19 50285961 50285961 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:50285961C>T ENST00000354293.5 + 4 619 c.453C>T c.(451-453)atC>atT p.I151I AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000359032.5_Silent_p.I151I NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 151 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CCGCTGACATCCCCCGCATCC 0.672000 26 22 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133078922 133078922 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:133078922G>A ENST00000326499.6 - 1 225 c.101C>T c.(100-102)gCt>gTt p.A34V VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.A34V|VNN2_ENST00000525270.1_Intron NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 34 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity p.A34V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CAAAATGACAGCATGTTCATA 0.428000 25 78 0 0 1 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217100 53217100 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:53217100C>T ENST00000342657.3 + 7 1546 c.473C>T c.(472-474)tCc>tTc p.S158F HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.S158F|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.S158F NM_001011724.1 NP_001011724.1 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 2 158 Globular B domain.|RRM 2. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding cervix(1)|large_intestine(1)|lung(5) 7 GACCATGACTCCGTGGATAAG 0.433000 40 66 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564117 176564117 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:176564117C>T ENST00000367662.3 + 3 2541 c.1377C>T c.(1375-1377)agC>agT p.S459S PAPPA2_ENST00000367661.3_Silent_p.S459S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 459 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGACAGCGAGCTTTGAGCCTG 0.537000 78 69 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125460023 125460023 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:125460023G>A ENST00000308736.2 - 6 1020 c.922C>T c.(922-924)Cga>Tga p.R308* DHX37_ENST00000544745.1_Nonsense_Mutation_p.R95* NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 308 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCGGCCACTCGGCGGGGCTCC 0.632000 64 142 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7678084 7678084 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:7678084G>A ENST00000572933.1 + 29 5969 c.4509G>A c.(4507-4509)ctG>ctA p.L1503L DNAH2_ENST00000389173.2_Silent_p.L1503L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1503 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAGGCCTCCTGGACACATTGA 0.448000 34 23 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42004786 42004786 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:42004786G>A ENST00000395925.3 - 15 3969 c.3885C>T c.(3883-3885)ttC>ttT p.F1295F GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1295 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CCGGCAGGCCGAAATTCAGCT 0.632000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 53 47 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599564 136599564 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:136599564T>C ENST00000531224.1 - 4 707 c.455A>G c.(454-456)aAa>aGa p.K152R BCLAF1_ENST00000527759.1_Missense_Mutation_p.K150R|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K152R|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K152R|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K150R|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K150R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 152 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AACAGGAGATTTGCTATATGG 0.438000 37 70 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70925439 70925439 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:70925439G>A ENST00000603540.1 + 2 1481 c.1223G>A c.(1222-1224)cGc>cAc p.R408H ADAM21_ENST00000267499.3_Missense_Mutation_p.R408H|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 408 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATGCTAAAGCGCTGTGGGAAT 0.458000 25 90 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518896 129518896 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:129518896G>A ENST00000276218.2 - 1 615 c.526C>T c.(526-528)Cca>Tca p.P176S NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 176 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGCATGGCTGGGAAGAAGCCA 0.527000 55 4 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136665000 136665000 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:136665000T>G ENST00000469404.1 + 2 701 c.610T>G c.(610-612)Tac>Gac p.Y204D NCK1_ENST00000481752.1_Missense_Mutation_p.Y268D|NCK1_ENST00000288986.2_Missense_Mutation_p.Y268D NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 268 SH3 3. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 ACAGTGTGATTACATTAGGCC 0.408000 8 142 0 0 1 0 0 SLC25A24 29957 broad.mit.edu 37 1 108700206 108700206 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:108700206C>T ENST00000565488.1 - 5 766 c.547G>A c.(547-549)Gaa>Aaa p.E183K SLC25A24_ENST00000370041.4_Missense_Mutation_p.E164K NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 183 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TCCGTGAATTCATCTGGAATA 0.438000 85 53 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175375791 175375791 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:175375791G>A ENST00000367674.1 - 3 768 c.60C>T c.(58-60)atC>atT p.I20I TNR_ENST00000263525.2_Silent_p.I20I NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 20 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.I20I(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGCCCAGAAGGATCAGGTTGA 0.552000 91 168 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146214476 146214476 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:146214476G>A ENST00000367503.3 - 28 5159 c.4761C>T c.(4759-4761)ccC>ccT p.P1587P SHPRH_ENST00000367505.2_Silent_p.P1583P|SHPRH_ENST00000275233.7_Silent_p.P1583P|SHPRH_ENST00000438092.2_Silent_p.P1587P NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1583 Helicase C-terminal. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CTGTGTGCAGGGGCAGCAGCA 0.403000 3 15 0 0 1 0 0 ZNF511 118472 broad.mit.edu 37 10 135123718 135123718 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:135123718C>T ENST00000359035.3 + 4 483 c.480C>T c.(478-480)gaC>gaT p.D160D ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Silent_p.D160D|ZNF511_ENST00000368554.4_Silent_p.D95D Q8NB15 ZN511_HUMAN zinc finger protein 511 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) CCAGCAGAGACCGGAAGGATC 0.572000 96 82 0 0 1 0 0 SHD 56961 broad.mit.edu 37 19 4290474 4290474 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:4290474C>T ENST00000543264.2 + 6 2330 c.867C>T c.(865-867)ttC>ttT p.F289F SHD_ENST00000599689.1_Silent_p.F249F NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 289 SH2. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) ATCTGAAGTTCGCGCGGACCC 0.657000 101 150 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 284360 284360 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:284360G>A ENST00000534750.1 + 6 2534 c.2329G>A c.(2329-2331)Gag>Aag p.E777K NLRP6_ENST00000312165.5_Missense_Mutation_p.E778K NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 778 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) TATGCTGAGTGAGGGCCTAGC 0.692000 51 69 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87342598 87342598 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:87342598C>T ENST00000304053.6 + 9 1366 c.883C>T c.(883-885)Cca>Tca p.P295S NTRK2_ENST00000395866.2_Missense_Mutation_p.P139S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P295S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P295S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P295S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P295S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P295S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P295S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P295S NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 295 Ig-like C2-type 2. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TCTCGAATCTCCAACCTCAGA 0.443000 TSP Lung(25;0.17) 38 12 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151336913 151336913 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:151336913G>T ENST00000370314.4 - 10 1504 c.1266C>A c.(1264-1266)ccC>ccA p.P422P RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Silent_p.P422P|GABRA3_ENST00000535043.1_Silent_p.P422P NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 422 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGGAGGCACTGGGAGCAGCGC 0.542000 13 167 3.41278e-10 3.44918e-10 1 1 0 EMB 133418 broad.mit.edu 37 5 49699045 49699045 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:49699045C>T ENST00000303221.5 - 6 1059 c.844G>A c.(844-846)Gaa>Aaa p.E282K EMB_ENST00000514111.1_Missense_Mutation_p.E232K|EMB_ENST00000508934.1_Missense_Mutation_p.E228K NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 282 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) GTGTACTTTTCACAAAGCAGA 0.348000 11 18 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570315 248570315 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:248570315C>T ENST00000366474.1 + 1 1020 c.1020C>T c.(1018-1020)taC>taT p.Y340Y NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 340 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTCATCTACAGCCTTAGAA 0.517000 99 82 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22509204 22509204 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:22509204G>A ENST00000390448.3 + 0 211 CAGTTACACAGTCAGCGGTTT 0.522000 15 30 0 0 1 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524113 73524113 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:73524113G>A ENST00000339534.2 + 1 89 c.12G>A c.(10-12)aaG>aaA p.K4K NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 4 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 TGAGCAGTAAGGATTTCTTCG 0.612000 10 1 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996503 19996503 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:19996503G>A ENST00000391403.2 - 1 1375 c.1272C>T c.(1270-1272)ctC>ctT p.L424L NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 424 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TTTTCTCATGGAGAATAATCT 0.368000 36 31 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61865687 61865687 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:61865687C>T ENST00000280772.1 - 28 3495 c.3304G>A c.(3304-3306)Gag>Aag p.E1102K ANK3_ENST00000373827.2_Missense_Mutation_p.E1096K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1103K|ANK3_ENST00000355288.2_Missense_Mutation_p.E236K NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1102 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTAAGTAACTCGGTTAAATCT 0.383000 32 24 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821894 72821894 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:72821894G>A ENST00000268489.5 - 10 10953 c.10281C>T c.(10279-10281)acC>acT p.T3427T ZFHX3_ENST00000397992.5_Silent_p.T2513T NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3427 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CCTCACGGGGGGTGTTTTTCT 0.577000 114 16 0 0 1 0 0 LOC653712 653712 broad.mit.edu 37 3 128580685 128580685 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:128580685G>A ENST00000498297.1 - 0 768 RP11-723O4.2_ENST00000480931.1_RNA NR_034179.1 TGCTGGCTTTGATGTTGAGGT 0.572000 36 19 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108822756 108822756 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:108822756C>T ENST00000232603.5 - 4 245 c.163G>A c.(163-165)Gaa>Aaa p.E55K MORC1_ENST00000483760.1_Missense_Mutation_p.E55K|MORC1-AS1_ENST00000480826.1_RNA NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 55 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGCAGTTTTTCATTATCCACT 0.383000 24 86 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99057785 99057785 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:99057785G>A ENST00000555673.1 - 2 67 c.45C>T c.(43-45)gtC>gtT p.V15V ATP5J2_ENST00000449683.1_Silent_p.V25V|ATP5J2_ENST00000394186.3_Silent_p.V15V|ATP5J2_ENST00000359832.4_Silent_p.V21V|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000544611.1_Silent_p.V15V|ATP5J2_ENST00000488775.1_Silent_p.V15V|ATP5J2_ENST00000292475.3_Silent_p.V21V|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.V15V NM_001198879.1 NP_001185808.1 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CCCCCAGTTTGACCTCCAGAA 0.473000 103 219 0 0 1 0 0 MIR381HG 378881 broad.mit.edu 37 14 101512841 101512841 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:101512841G>A ENST00000553692.1 + 0 28 MIR487B_ENST00000385021.1_RNA TGCTCATGTCGAATCGTACAG 0.483000 58 10 0 0 1 0 0 MPST 4357 broad.mit.edu 37 22 37425444 37425444 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:37425444C>T ENST00000397225.2 + 3 1698 c.783C>T c.(781-783)gcC>gcT p.A261A MPST_ENST00000404802.3_Silent_p.A261A|MPST_ENST00000429360.2_Silent_p.A261A|MPST_ENST00000401419.3_Silent_p.A261A|MPST_ENST00000397129.1_Silent_p.A281A|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000341116.3_Silent_p.A261A P25325 THTM_HUMAN mercaptopyruvate sulfurtransferase 261 Rhodanese 2. cyanate catabolic process|response to toxin 3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1) 7 CACTAGGGGCCTACCTCTGCG 0.637000 24 20 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25442804 25442804 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:25442804C>T ENST00000255324.5 + 31 4280 c.4228C>T c.(4228-4230)Cca>Tca p.P1410S RNF17_ENST00000339524.3_Missense_Mutation_p.P420S|RNF17_ENST00000381921.1_Missense_Mutation_p.P1368S NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1410 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCTGCCTTCCCCAGGAGAACT 0.373000 80 118 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77425666 77425666 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:77425666G>A ENST00000560626.2 - 6 4233 c.3758C>T c.(3757-3759)tCc>tTc p.S1253F PEAK1_ENST00000312493.4_Missense_Mutation_p.S1253F Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1253 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GCTGGAGAGGGATTCCATGCT 0.537000 52 65 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71395348 71395348 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:71395348C>T ENST00000392650.3 - 22 3052 c.3052G>A c.(3052-3054)Gat>Aat p.D1018N SDK2_ENST00000388726.3_Missense_Mutation_p.D1018N NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1018 Fibronectin type-III 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GTTTTCCCATCGTAGCCTGGC 0.652000 25 37 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660215 77660215 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:77660215G>A ENST00000296043.6 + 5 1842 c.889G>A c.(889-891)Gaa>Aaa p.E297K NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 297 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGGCCTCCTCGAAGGGATGAG 0.557000 40 71 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160086657 160086657 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:160086657C>T ENST00000263635.6 + 27 4957 c.4720C>T c.(4720-4722)Cct>Tct p.P1574S TANC1_ENST00000454300.1_Missense_Mutation_p.P1468S NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1574 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CGCTGCCACTCCTGCTGGGAG 0.557000 75 50 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14291101 14291101 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:14291101G>A ENST00000344204.4 + 5 841 c.817G>A c.(817-819)Gag>Aag p.E273K TRIO_ENST00000509967.2_Missense_Mutation_p.E224K|TRIO_ENST00000537187.1_Missense_Mutation_p.E273K NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 273 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GGCCCCCATCGAGGACCTGGA 0.507000 42 56 0 0 1 0 0 ZFAND5 7763 broad.mit.edu 37 9 74971949 74971949 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:74971949C>G ENST00000237937.3 - 5 948 c.391G>C c.(391-393)Gtt>Ctt p.V131L ZFAND5_ENST00000376962.5_Missense_Mutation_p.V131L|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V131L|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V131L NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 131 DNA binding|zinc ion binding cervix(1)|kidney(2)|lung(2)|prostate(1) 6 GGCTGAGAAACTGATGGACTG 0.378000 4 39 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66782952 66782952 + Nonstop_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:66782952A>C ENST00000307102.5 + 11 1712 c.1181A>C c.(1180-1182)tAa>tCa p.*394S SNAPC5_ENST00000563480.2_3'UTR|SNAPC5_ENST00000395589.2_3'UTR|MAP2K1_ENST00000566326.1_Nonstop_Mutation_p.*218S|CTD-3185P2.1_ENST00000565387.1_RNA NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 0 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GCTGGCGTCTAAGTGTTTGGG 0.542000 5 112 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949681 118949681 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:118949681G>A ENST00000328252.3 + 2 1033 c.664G>A c.(664-666)Gaa>Aaa p.E222K NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 222 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CACCTCTGGGGAACAAGTGGG 0.567000 24 50 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37284583 37284583 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:37284583G>A ENST00000233099.5 - 15 2195 c.2100C>T c.(2098-2100)ttC>ttT p.F700F HEATR5B_ENST00000354531.2_Silent_p.F700F NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 700 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CAGTCAAAGTGAATTCCGCTA 0.363000 17 36 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64378080 64378080 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:64378080T>A ENST00000476120.1 + 2 295 c.224T>A c.(223-225)tTc>tAc p.F75Y ZNF273_ENST00000545510.1_Missense_Mutation_p.F42Y|ZNF273_ENST00000319636.5_Missense_Mutation_p.F10Y|ZNF273_ENST00000527278.1_3'UTR NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) AACCTGGTCTTCCTGGGTGAG 0.358000 22 71 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846284 55846284 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:55846284C>T ENST00000322678.1 + 1 287 c.287C>T c.(286-288)gCc>gTc p.A96V RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 AATGCTTGTGCCAGTCAAATA 0.388000 60 15 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47570941 47570941 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:47570941G>A ENST00000273859.3 + 16 3210 c.2941G>A c.(2941-2943)Gat>Aat p.D981N NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 981 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ATTAAGTGAAGATTTACTTCA 0.478000 68 97 0 0 1 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504274 151504274 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:151504274C>T ENST00000317605.4 + 1 1198 c.93C>T c.(91-93)atC>atT p.I31I LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 31 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) CCAAAACCATCCGAGAGGTCT 0.592000 30 19 0 0 1 0 0 PAQR6 79957 broad.mit.edu 37 1 156216478 156216478 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:156216478G>A ENST00000292291.5 - 2 203 c.45C>T c.(43-45)gtC>gtT p.V15V PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000356983.2_5'UTR|PAQR6_ENST00000368270.1_Intron|PAQR6_ENST00000335852.1_5'UTR|PAQR6_ENST00000360733.2_5'UTR NM_001272104.1|NM_001272105.1|NM_198406.1 NP_001259033.1|NP_001259034.1|NP_940798.1 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 15 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) TCACCCGGGGGACCTGGTGGA 0.592000 35 54 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279071 152279071 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:152279071C>T ENST00000368799.1 - 3 8326 c.8291G>A c.(8290-8292)gGa>gAa p.G2764E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2764 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGCGGGATCCTTGTCTTCC 0.577000 Ichthyosis 110 471 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144662305 144662305 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:144662305C>T ENST00000532741.1 - 7 2160 c.1932G>A c.(1930-1932)tgG>tgA p.W644* EEF1D_ENST00000532400.1_Missense_Mutation_p.G44E|EEF1D_ENST00000531621.1_Nonsense_Mutation_p.W185*|EEF1D_ENST00000524624.1_Nonsense_Mutation_p.W204*|EEF1D_ENST00000528610.1_Nonsense_Mutation_p.W204*|EEF1D_ENST00000442189.2_Nonsense_Mutation_p.W594*|EEF1D_ENST00000526838.1_Nonsense_Mutation_p.W209*|EEF1D_ENST00000395119.3_Nonsense_Mutation_p.W228*|EEF1D_ENST00000423316.2_Nonsense_Mutation_p.W594*|EEF1D_ENST00000529272.1_Nonsense_Mutation_p.W228*|EEF1D_ENST00000419152.2_Nonsense_Mutation_p.W228*|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000317198.6_Nonsense_Mutation_p.W228* P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 228 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) TGGAAGCCCCCCAGACCAGCC 0.622000 22 50 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 153965405 153965405 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:153965405A>G ENST00000368559.3 - 40 5644 c.5573T>C c.(5572-5574)tTt>tCt p.F1858S NUP210L_ENST00000368553.1_Missense_Mutation_p.F639S|NUP210L_ENST00000271854.3_Missense_Mutation_p.F1706S NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1858 FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345). integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGTGGAGTTAAAAAAACCTAG 0.438000 90 78 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3639003 3639003 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:3639003G>A ENST00000335312.3 - 16 1887 c.1799C>T c.(1798-1800)tCc>tTc p.S600F PIP5K1C_ENST00000589578.1_Missense_Mutation_p.S600F|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.S600F|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.S600F NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 600 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) ACCGGCCGGGGAAGCCTCCAC 0.687000 35 40 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203620270 203620270 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:203620270C>T ENST00000303116.6 + 5 980 c.238C>T c.(238-240)Cca>Tca p.P80S FAM117B_ENST00000392238.2_Missense_Mutation_p.P324S NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 324 Gly-rich. breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 GGCTCCTGTTCCAAAGAGTGC 0.398000 55 98 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181727965 181727965 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:181727965C>T ENST00000526775.1 + 31 4674 c.4509C>T c.(4507-4509)tcC>tcT p.S1503S CACNA1E_ENST00000360108.3_Silent_p.S1503S|CACNA1E_ENST00000367573.2_Silent_p.S1522S|CACNA1E_ENST00000357570.5_Silent_p.S1473S|CACNA1E_ENST00000367567.4_Silent_p.S1129S|CACNA1E_ENST00000367570.1_Silent_p.S1522S|CACNA1E_ENST00000358338.5_Silent_p.S1454S NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1522 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGGTGTTTTCCCTGGAATGTG 0.478000 40 48 0 0 1 0 0 C11orf65 160140 broad.mit.edu 37 11 108277597 108277597 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:108277597G>A ENST00000525729.1 - 3 244 c.175C>T c.(175-177)Cca>Tca p.P59S C11orf65_ENST00000393084.1_Missense_Mutation_p.P108S|C11orf65_ENST00000529391.1_Missense_Mutation_p.P108S Q8NCR3 CK065_HUMAN chromosome 11 open reading frame 65 108 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) TGCTTTGCTGGAAGTTTTGCA 0.368000 38 58 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22051977 22051977 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:22051977G>A ENST00000306385.5 + 11 1987 c.1317G>A c.(1315-1317)gtG>gtA p.V439V BMP1_ENST00000397816.3_Silent_p.V439V|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.V439V|BMP1_ENST00000306349.8_Silent_p.V439V NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 439 CUB 2. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GGGGTGATGTGAAAAAGGACT 0.582000 38 84 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179583579 179583579 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179583579C>T ENST00000589042.1 - 84 24572 c.24348G>A c.(24346-24348)agG>agA p.R8116R TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.R6872R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.R7799R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7799 Ig-like 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACCAGTTCCCTGCTGCCTT 0.488000 17 19 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3430129 3430129 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:3430129C>T ENST00000529482.1 + 0 2258 CAAATCCTTTCGAGCAGCGCC 0.547000 28 33 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53757999 53757999 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:53757999C>T ENST00000288139.3 + 15 2251 c.2133C>T c.(2131-2133)ttC>ttT p.F711F CACNA1D_ENST00000350061.5_Silent_p.F691F|CACNA1D_ENST00000422281.2_Silent_p.F691F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 691 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTGACAATTTCCCTCAAGCAC 0.473000 40 52 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110451555 110451555 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:110451555T>G ENST00000265175.5 + 19 3242 c.3187T>G c.(3187-3189)Tct>Gct p.S1063A SEC24B_ENST00000504968.2_Missense_Mutation_p.S1093A|SEC24B_ENST00000399100.2_Missense_Mutation_p.S1028A NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 1063 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTTACAGCACTCTGCATTGAT 0.418000 25 67 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88934497 88934497 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:88934497C>A ENST00000556564.1 - 19 3793 c.3509G>T c.(3508-3510)aGc>aTc p.S1170I PTPN21_ENST00000328736.3_Missense_Mutation_p.S1170I NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 1170 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GAGCCTGGAGCTTTTCAGGAA 0.483000 4 142 1 1 1 1 0 CELSR1 9620 broad.mit.edu 37 22 46805046 46805046 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:46805046G>A ENST00000262738.3 - 9 5072 c.5073C>T c.(5071-5073)ccC>ccT p.P1691P NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1691 Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGAAGAGCTGGGGGTGAGGCA 0.652000 29 86 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983995 97983995 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:97983995G>A ENST00000383696.2 + 1 908 c.867G>A c.(865-867)atG>atA p.M289I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AAGATATGATGGAGTCTCTAT 0.403000 12 27 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49227692 49227692 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:49227692G>A ENST00000222145.4 - 10 2650 c.2446C>T c.(2446-2448)Cta>Tta p.L816L NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 816 Dilute. signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GCTCCCTGTAGCCAGTCCAAG 0.567000 93 154 0 0 1 0 0 DZIP1L 199221 broad.mit.edu 37 3 137790600 137790600 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:137790600C>T ENST00000327532.2 - 12 1862 c.1500G>A c.(1498-1500)cgG>cgA p.R500R DZIP1L_ENST00000469243.1_Silent_p.R500R|DZIP1L_ENST00000488595.1_Intron NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 500 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 CAGAAAACTTCCGGGCCTTCT 0.542000 51 30 0 0 1 0 0 FECH 2235 broad.mit.edu 37 18 55240527 55240527 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:55240527G>A ENST00000262093.5 - 3 416 c.265C>T c.(265-267)Ctt>Ttt p.L89F FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Missense_Mutation_p.L95F NM_000140.3|NM_001012515.2 NP_000131.2|NP_001012533.1 P22830 HEMH_HUMAN ferrochelatase 89 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) AGTCTCAGAAGGAAGTCGTGA 0.383000 28 45 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1046245 1046245 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:1046245C>A ENST00000263094.6 + 13 1693 c.1462C>A c.(1462-1464)Cca>Aca p.P488T ABCA7_ENST00000433129.1_Missense_Mutation_p.P488T|ABCA7_ENST00000435683.2_Missense_Mutation_p.P350T|ABCA7_ENST00000533574.1_3'UTR NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 488 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGACCCTGGCCCAGCCGCGGA 0.657000 74 315 9.25274e-37 9.48229e-37 1 1 0 ZNF783 100289678 broad.mit.edu 37 7 148964213 148964213 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:148964213C>T ENST00000434415.1 + 4 736 c.573C>T c.(571-573)atC>atT p.I191I NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 191 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) AACCAGACATCCTCACCCGGA 0.542000 28 49 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150922936 150922936 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:150922936C>T ENST00000271640.5 + 13 1773 c.1583C>T c.(1582-1584)tCa>tTa p.S528L SETDB1_ENST00000368969.4_Missense_Mutation_p.S528L|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) ATTTGCAGATCACCTTTAGGC 0.547000 72 100 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74077595 74077595 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:74077595C>T ENST00000394070.2 + 7 1463 c.960C>T c.(958-960)ttC>ttT p.F320F STAMBP_ENST00000409707.1_Silent_p.F320F|STAMBP_ENST00000339566.3_Silent_p.F320F|STAMBP_ENST00000394073.1_Silent_p.F320F|STAMBP_ENST00000486458.1_3'UTR NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 320 MPN. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 AAGAACTTTTCCTCATACAGG 0.468000 42 56 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82891739 82891739 + Silent SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:82891739A>T ENST00000306270.7 - 26 4131 c.3582T>A c.(3580-3582)tcT>tcA p.S1194S IBTK_ENST00000510291.1_Silent_p.S1179S|IBTK_ENST00000503631.1_Silent_p.S993S NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 1194 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) AATGCAGAGAAGATGCCCTGC 0.353000 25 20 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939770 22939770 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:22939770C>T ENST00000397104.3 - 6 2560 c.2561G>A c.(2560-2562)gGg>gAg p.G854E zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGGTTTCTCCCCAGTATGAAT 0.348000 23 31 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469293 10469293 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:10469293G>A ENST00000382483.3 - 4 2538 c.2315C>T c.(2314-2316)tCg>tTg p.S772L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 772 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGGGCCGGCGAGCATGTCCT 0.662000 43 154 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103563995 103563995 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:103563995G>A ENST00000285402.3 + 1 196 c.40G>A c.(40-42)Gac>Aac p.D14N NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 14 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) TGTCAGAAGGGACATAAAGAA 0.473000 23 76 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140905 143140905 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:143140905G>A ENST00000332690.1 + 1 360 c.360G>A c.(358-360)gtG>gtA p.V120V EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 120 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTATTGTGTGAAAATTGCTA 0.502000 106 84 0 0 1 0 0 PARP15 165631 broad.mit.edu 37 3 122335957 122335957 + Nonsense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:122335957G>T ENST00000483793.1 + 4 608 c.568G>T c.(568-570)Gaa>Taa p.E190* PARP15_ENST00000493645.1_Nonsense_Mutation_p.E82*|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Nonsense_Mutation_p.E82*|PARP15_ENST00000464300.2_Nonsense_Mutation_p.E316* Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 365 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity p.E316K(1)|p.E82K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) TATAGCCACTGAACAGGTAGA 0.353000 4 137 1 1 1 1 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139106912 139106912 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:139106912C>T ENST00000354926.4 + 10 1359 c.1005C>T c.(1003-1005)tcC>tcT p.S335S C7orf55-LUC7L2_ENST00000263545.6_Silent_p.S334S|LUC7L2_ENST00000541515.3_Silent_p.S401S|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000541170.3_Silent_p.S332S NM_016019.3 NP_057103.2 TTTTCAGATCCTCAAAAGAAA 0.363000 26 31 0 0 1 0 0 GPR15 2838 broad.mit.edu 37 3 98250982 98250982 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:98250982C>T ENST00000284311.3 + 1 240 c.105C>T c.(103-105)ttC>ttT p.F35F NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 35 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CCTCTGTCTTCCTTCCAGTCT 0.488000 15 53 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48713792 48713792 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:48713792C>T ENST00000316623.5 - 62 8117 c.7662G>A c.(7660-7662)cgG>cgA p.R2554R NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2554 EGF-like 44; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GTGAGAATCCCCGCTGGCATT 0.527000 16 23 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887166 25887166 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:25887166G>A ENST00000376351.3 + 11 2970 c.2611G>A c.(2611-2613)Gag>Aag p.E871K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 871 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGAGTCCACGGAGTCGGTGCC 0.493000 33 28 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21715933 21715933 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:21715933G>A ENST00000261195.2 - 7 1235 c.981C>T c.(979-981)ttC>ttT p.F327F NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 327 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.F327F(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCCCAGCAATGAAAAGGAACA 0.368000 29 47 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176721950 176721950 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:176721950G>A ENST00000439151.2 + 23 7626 c.7581G>A c.(7579-7581)tgG>tgA p.W2527* NSD1_ENST00000354179.4_Nonsense_Mutation_p.W2258*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.W2424*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W2258* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2527 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGGACCCCTGGCAAGCTGTTA 0.532000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 44 175 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60637284 60637284 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:60637284C>T ENST00000278853.5 + 3 593 c.593C>T c.(592-594)tCc>tTc p.S198F NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 198 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCTTTACCATCCCCTGGACCT 0.612000 49 69 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13476136 13476136 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:13476136C>T ENST00000360228.5 - 5 778 c.779G>A c.(778-780)gGg>gAg p.G260E CACNA1A_ENST00000573710.2_Missense_Mutation_p.G260E NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 260 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCTACCTGTCCCCTCTTCAAA 0.458000 36 138 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103038452 103038452 + Missense_Mutation SNP C C T rs144199565 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:103038452C>T ENST00000306312.3 - 9 1159 c.898G>A c.(898-900)Gga>Aga p.G300R SLC26A5_ENST00000393723.1_Missense_Mutation_p.G300R|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G300R|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G263R|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G300R|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G300R|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G300R|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G300R|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G300R NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 300 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity p.G300*(3) endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 ATGCCAGTTCCCATTACGACC 0.363000 71 53 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10299903 10299903 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:10299903C>T ENST00000403437.2 - 32 4589 c.4495G>A c.(4495-4497)Gaa>Aaa p.E1499K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1499 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTTAGCGTTTCGAGTTGATCC 0.473000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596191 179596191 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179596191C>T ENST00000589042.1 - 59 17526 c.17302G>A c.(17302-17304)Gat>Aat p.D5768N TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4524N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5451N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5451 Ig-like 38. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGATTTCATCGCTGTCTTTT 0.483000 16 21 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35456311 35456311 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:35456311C>T ENST00000378880.2 - 10 1820 c.1375G>A c.(1375-1377)Ggg>Agg p.G459R PAMR1_ENST00000378878.3_Missense_Mutation_p.G348R|PAMR1_ENST00000278360.3_Missense_Mutation_p.G476R|PAMR1_ENST00000532848.1_Missense_Mutation_p.G419R NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 459 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CAGCGCAACCCTTGGGTCTTT 0.542000 94 118 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38560420 38560420 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:38560420G>A ENST00000423485.1 - 19 2425 c.2267C>T c.(2266-2268)tCt>tTt p.S756F NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 756 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) ATGATGATAAGAAGACATTTC 0.393000 97 211 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134623952 134623952 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:134623952G>A ENST00000368586.5 - 57 7725 c.7625C>T c.(7624-7626)tCt>tTt p.S2542F TTC40_ENST00000263170.5_Missense_Mutation_p.S703F NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 703 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TTCTGAAGGAGACGCACTGTT 0.622000 51 71 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72860302 72860302 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:72860302C>T ENST00000455107.2 - 10 1254 c.838G>A c.(838-840)Gca>Aca p.A280T FDXR_ENST00000582944.1_Missense_Mutation_p.A316T|FDXR_ENST00000442102.2_Missense_Mutation_p.A367T|FDXR_ENST00000413947.2_Missense_Mutation_p.A355T|FDXR_ENST00000420580.2_Missense_Mutation_p.A284T|FDXR_ENST00000581530.1_Missense_Mutation_p.A330T|FDXR_ENST00000293195.5_Missense_Mutation_p.A324T|FDXR_ENST00000583917.1_Missense_Mutation_p.A296T|FDXR_ENST00000544854.1_Missense_Mutation_p.A272T P22570 ADRO_HUMAN ferredoxin reductase 324 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CGGACACCTGCTGCCCGCCGC 0.667000 43 48 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42694723 42694723 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:42694723G>A ENST00000358131.5 + 6 1486 c.1278G>A c.(1276-1278)atG>atA p.M426I TOX2_ENST00000341197.3_Missense_Mutation_p.M444I|TOX2_ENST00000372999.1_Missense_Mutation_p.M402I|TOX2_ENST00000435864.2_Missense_Mutation_p.M322I|TOX2_ENST00000423191.1_Missense_Mutation_p.M402I NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 426 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGCTGGCGATGAGCCCCTCAC 0.662000 39 53 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110148980 110148980 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:110148980T>A ENST00000351050.3 - 5 726 c.540A>T c.(538-540)aaA>aaT p.K180N NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 180 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TGCCCGTGGTTTTGACTCTGG 0.458000 116 66 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39046751 39046751 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:39046751C>T ENST00000373256.4 + 9 946 c.903C>T c.(901-903)tcC>tcT p.S301S NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 301 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CCAGGAACTCCAACATGAACT 0.587000 221 256 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71158464 71158464 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:71158464C>T ENST00000448642.2 + 22 2983 c.2594C>T c.(2593-2595)gCc>gTc p.A865V HK1_ENST00000359426.6_Missense_Mutation_p.A830V|HK1_ENST00000404387.2_Missense_Mutation_p.A834V|HK1_ENST00000298649.3_Missense_Mutation_p.A829V|HK1_ENST00000360289.2_Missense_Mutation_p.A818V P19367 HXK1_HUMAN hexokinase 1 830 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 TCCAGGAGGGCCGCACAGCTG 0.602000 31 60 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5832940 5832940 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:5832940C>T ENST00000339450.5 - 1 177 c.88G>A c.(88-90)Gag>Aag p.E30K NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 30 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) GCCTCCCTCTCCGGCGGTGGC 0.751000 9 10 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36079603 36079603 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:36079603G>A ENST00000360731.3 + 3 1454 c.1454G>A c.(1453-1455)gGa>gAa p.G485E CLIC6_ENST00000349499.2_Missense_Mutation_p.G467E Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 485 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GAGAGTATCGGAAATTGCCCG 0.443000 47 44 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996144 19996144 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:19996144C>T ENST00000391403.2 - 1 1734 c.1631G>A c.(1630-1632)gGa>gAa p.G544E NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 544 integral to membrane p.G544V(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GCTTGATTCTCCTCTTTCTTT 0.547000 42 55 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100403968 100403968 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:100403968G>A ENST00000281806.2 - 2 370 c.56C>T c.(55-57)tCc>tTc p.S19F MCHR2_ENST00000445970.1_Missense_Mutation_p.S19F|MCHR2_ENST00000369212.1_Missense_Mutation_p.S19F NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 19 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TTTATTCCAGGATTTGTTTAA 0.423000 55 64 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1995503 1995503 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:1995503C>T ENST00000382722.5 - 8 1241 c.879G>A c.(877-879)gtG>gtA p.V293V CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Silent_p.V293V|CACNA2D4_ENST00000587995.1_Silent_p.V293V|CACNA2D4_ENST00000585708.1_Silent_p.V229V|CACNA2D4_ENST00000588077.1_Silent_p.V229V NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 293 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCACCAAAATCACTATGTCCT 0.507000 48 54 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18740248 18740248 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:18740248C>T ENST00000513874.1 - 8 863 c.724G>A c.(724-726)Gac>Aac p.D242N RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 242 Ig-like 2. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GTCTCTTTGTCTTCCAGGGGC 0.473000 128 163 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422232 47422232 + Silent SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:47422232T>A ENST00000404338.3 + 1 300 c.300T>A c.(298-300)atT>atA p.I100I NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 100 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CTGAATTTATTGATGATCAGA 0.468000 90 119 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161132202 161132202 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:161132202C>T ENST00000308192.9 + 4 449 c.386C>T c.(385-387)tCc>tTc p.S129F PLG_ENST00000366924.2_Missense_Mutation_p.S129F|PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 129 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AAATGGAGTTCCACTTCTCCC 0.453000 17 30 0 0 1 0 0 CTAGE15 441294 broad.mit.edu 37 7 143268938 143268938 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:143268938C>T ENST00000420911.2 + 1 45 c.28C>T c.(28-30)Ccc>Tcc p.P10S NM_001008747.1 NP_001008747.1 CTAGE family, member 15 TACCCCTCAGCCCTACCTGGG 0.587000 25 25 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110530532 110530532 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:110530532C>T ENST00000378402.5 + 73 11930 c.11826C>T c.(11824-11826)ttC>ttT p.F3942F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3942 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGTTTCTTTCCAATTATCTG 0.353000 HNSCC(38;0.096) 22 52 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57003998 57003998 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:57003998C>T ENST00000606794.1 - 1 677 c.481G>A c.(481-483)Gcc>Acc p.A161T NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 161 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 ACAGGCATGGCCAGGAGGGCG 0.632000 25 56 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59564525 59564525 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:59564525A>C ENST00000288235.4 - 2 526 c.127T>G c.(127-129)Tac>Gac p.Y43D NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 43 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TCATCCATGTATCTCTTCTTC 0.438000 36 95 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6596334 6596334 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:6596334G>A ENST00000285599.3 + 7 968 c.932G>A c.(931-933)aGc>aAc p.S311N MAN2B2_ENST00000504248.1_Intron NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 311 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 CACATCAACAGCCATGCTGCC 0.602000 91 92 0 0 1 0 0 PGAM2 5224 broad.mit.edu 37 7 44105077 44105077 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:44105077G>A ENST00000297283.3 - 1 109 c.52C>T c.(52-54)Cag>Tag p.Q18* AC017116.11_ENST00000445938.1_RNA NM_000290.3 NP_000281.2 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 (muscle) 18 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity large_intestine(2)|lung(4)|ovary(1)|stomach(1) 8 CGGTTCTCCTGGTTCCATGTG 0.627000 44 109 0 0 1 0 0 DONSON 29980 broad.mit.edu 37 21 34960667 34960667 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:34960667G>A ENST00000453626.1 - 1 285 c.281C>T c.(280-282)cCc>cTc p.P94L DONSON_ENST00000303113.6_Missense_Mutation_p.P94L|DONSON_ENST00000432378.1_Missense_Mutation_p.P94L|DONSON_ENST00000303071.5_Missense_Mutation_p.P94L|AP000304.12_ENST00000429238.1_Intron Q9NYP3 DONS_HUMAN downstream neighbor of SON 94 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 CGGCCCGTCGGGGGGCTCCGC 0.766000 7 6 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77227603 77227603 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:77227603G>A ENST00000591814.1 + 8 2408 c.2113G>A c.(2113-2115)Gta>Ata p.V705I NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000592223.1_Missense_Mutation_p.V692I|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Intron NM_172390.1 NP_765978.1 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CTTTCTAACCGTAAGCCGTGA 0.522000 18 45 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90015878 90015878 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:90015878C>T ENST00000405460.2 + 44 9557 c.9461C>T c.(9460-9462)tCt>tTt p.S3154F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3154 Calx-beta 22. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTACAAATATCTGCCATATTA 0.368000 57 102 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53270527 53270527 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:53270527G>A ENST00000338230.3 - 3 749 c.482C>T c.(481-483)tCt>tTt p.S161F NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) ACATTGGAAAGATTTTTCTCT 0.368000 64 88 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16006377 16006377 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:16006377G>A ENST00000221700.5 - 3 377 c.282C>T c.(280-282)ccC>ccT p.P94P CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 94 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGGGGGAGATGGGTCCCATCC 0.597000 200 260 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70222682 70222682 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:70222682G>A ENST00000253925.7 + 25 3575 c.3360G>A c.(3358-3360)atG>atA p.M1120I PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1120I|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 1120 SAM 3. cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TTTTGGTCATGGGGACTGATA 0.333000 65 121 0 0 1 0 0 SYVN1 84447 broad.mit.edu 37 11 64900542 64900542 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:64900542G>A ENST00000526060.1 - 4 421 c.229C>T c.(229-231)Ctt>Ttt p.L77F SYVN1_ENST00000307289.6_Missense_Mutation_p.L77F|SYVN1_ENST00000377190.3_Missense_Mutation_p.L77F|SYVN1_ENST00000294256.8_Missense_Mutation_p.L77F Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 77 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CGTTCCAGAAGGTGCTGGGGG 0.552000 48 71 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97098520 97098520 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:97098520G>A ENST00000524981.3 + 14 1827 c.e14-1 Q6ZTY8 CL063_HUMAN breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TATTTTGACAGATCTTTCAAT 0.244000 13 3 0 0 1 0 0 ANKRD22 118932 broad.mit.edu 37 10 90582746 90582746 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:90582746C>T ENST00000371930.4 - 6 738 c.528G>A c.(526-528)cgG>cgA p.R176R ANKRD22_ENST00000476963.1_5'UTR NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 176 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) ATTTTAATCTCCGTGCAATAT 0.403000 76 80 0 0 1 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4475575 4475575 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:4475575C>T ENST00000301284.4 + 3 347 c.283C>T c.(283-285)Cct>Tct p.P95S HDGFRP2_ENST00000586684.1_Missense_Mutation_p.P95S NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 95 transcription, DNA-dependent nucleus DNA binding|protein binding CTACAGCGCCCCTCCGGTGAG 0.582000 15 51 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57589163 57589163 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:57589163G>A ENST00000243077.3 + 52 8884 c.8418G>A c.(8416-8418)gaG>gaA p.E2806E NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2806 LDL-receptor class A 17. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GTGCAGACGAGAGCATCGCAG 0.652000 214 44 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128690270 128690270 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:128690270C>T ENST00000265068.5 - 8 1195 c.1028G>A c.(1027-1029)gGg>gAg p.G343E KIAA1257_ENST00000511438.1_Missense_Mutation_p.G343E|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G231E NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 343 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 TGAATCTTTCCCTTTAACTGT 0.488000 8 5 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9075271 9075271 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:9075271C>T ENST00000433083.2 + 5 509 c.364C>T c.(364-366)Cgg>Tgg p.R122W PHC1_ENST00000536844.1_Intron|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.R167W|PHC1_ENST00000544916.1_Missense_Mutation_p.R167W P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 167 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 AACCCTGGGTCGGAATGTGCC 0.557000 4 12 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109777484 109777484 + Missense_Mutation SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:109777484A>T ENST00000356711.2 + 30 3620 c.3494A>T c.(3493-3495)cAg>cTg p.Q1165L MYO16_ENST00000457511.2_Missense_Mutation_p.Q677L|MYO16_ENST00000357550.2_Missense_Mutation_p.Q1165L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1165 IQ. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTAGCACGCCAGCACCTGCTT 0.403000 7 60 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45765931 45765931 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:45765931C>T ENST00000357450.4 - 15 2322 c.2323G>A c.(2323-2325)Gat>Aat p.D775N SMC1B_ENST00000404354.3_Missense_Mutation_p.D775N NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 775 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGGAAGATATCGTCTTCTACC 0.274000 11 6 0 0 1 0 0 GALK2 2585 broad.mit.edu 37 15 49531560 49531560 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:49531560C>T ENST00000327171.3 + 5 699 c.467C>T c.(466-468)tCc>tTc p.S156F GALK2_ENST00000396509.2_Missense_Mutation_p.S143F|GALK2_ENST00000560031.1_Missense_Mutation_p.S167F|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000543495.1_Missense_Mutation_p.S38F|GALK2_ENST00000544523.1_Missense_Mutation_p.S143F|GALK2_ENST00000559454.1_Missense_Mutation_p.S143F NM_001001556.1 NP_001001556.1 Q01415 GALK2_HUMAN galactokinase 2 167 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) AGGAATCTATCCAAGGTAACT 0.448000 31 34 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885234 88885234 + Silent SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:88885234C>G ENST00000319675.3 - 1 1062 c.966G>C c.(964-966)gtG>gtC p.V322V NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 322 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTTCTTCGTTCACATGCACGG 0.542000 50 46 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28274109 28274109 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:28274109G>A ENST00000305242.5 - 4 506 c.414C>T c.(412-414)ggC>ggT p.G138G ARMC4_ENST00000239715.3_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 138 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TATAATCAGAGCCCAGGATTT 0.308000 6 4 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145435663 145435663 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:145435663C>T ENST00000511217.1 + 7 1494 c.1442C>T c.(1441-1443)cCc>cTc p.P481L SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.P481L Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 481 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAAGCCGTCCCTTCAAATCC 0.582000 113 15 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151451863 151451863 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:151451863C>T ENST00000356517.3 + 1 149 c.40C>T c.(40-42)Ctt>Ttt p.L14F NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 14 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GCTTTGTGTTCTTTTTGTCTC 0.388000 19 11 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32624215 32624215 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:32624215G>A ENST00000286827.3 - 6 1725 c.1254C>T c.(1252-1254)agC>agT p.S418S TIAM1_ENST00000541036.1_Silent_p.S418S|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 418 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GGCCCGGAGAGCTCAGGGTGC 0.667000 80 75 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10104169 10104169 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:10104169C>T ENST00000324907.9 + 6 1037 c.901C>T c.(901-903)Cga>Tga p.R301* GRHL1_ENST00000324883.5_Nonsense_Mutation_p.R112*|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.R301* NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 301 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CAGCAAAGTTCGAGTAAGTTC 0.478000 28 58 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635227 33635227 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:33635227C>T ENST00000380099.3 + 4 2019 c.2011C>T c.(2011-2013)Cga>Tga p.R671* KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 671 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.R671*(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AGAGTATGCCCGACTGTGCTT 0.577000 51 71 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41577211 41577211 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:41577211C>T ENST00000396942.1 - 10 1158 c.1075G>A c.(1075-1077)Gat>Aat p.D359N ANK1_ENST00000352337.4_Missense_Mutation_p.D359N|ANK1_ENST00000347528.4_Missense_Mutation_p.D359N|ANK1_ENST00000379758.2_Missense_Mutation_p.D359N|ANK1_ENST00000289734.7_Missense_Mutation_p.D359N|ANK1_ENST00000396945.1_Missense_Mutation_p.D359N|ANK1_ENST00000265709.8_Missense_Mutation_p.D392N P16157 ANK1_HUMAN ankyrin 1, erythrocytic 359 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCCCCTTTATCCAGAAGGACC 0.622000 221 185 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856098 54856098 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:54856098C>T ENST00000333896.5 + 13 2173 c.1788C>T c.(1786-1788)atC>atT p.I596I SPTBN1_ENST00000356805.4_Silent_p.I609I NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 609 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CCCAGGTGATCCGAGACCGCG 0.607000 115 135 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130485509 130485509 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:130485509G>A ENST00000373289.3 + 7 849 c.769G>A c.(769-771)Gat>Aat p.D257N PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.D81N|TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 257 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GGCGCGCCAAGATGCGGGGAT 0.637000 33 39 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38155261 38155261 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:38155261A>G ENST00000406386.3 + 17 6569 c.6314A>G c.(6313-6315)tAc>tGc p.Y2105C RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.Y392C|TRIOBP_ENST00000407319.2_Missense_Mutation_p.Y392C NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2105 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCCCCGGGCTACATCTCACAG 0.612000 5 81 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17701808 17701808 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:17701808T>G ENST00000353383.1 + 3 6015 c.5546T>G c.(5545-5547)aTg>aGg p.M1849R RAI1_ENST00000261641.6_Intron NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1849 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CAGGAGGCCATGAAGGTGGCC 0.677000 3 70 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24731321 24731321 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:24731321G>A ENST00000206765.6 - 2 361 c.238C>T c.(238-240)Cct>Tct p.P80S TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 80 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CGGGAGCCAGGTCTTCGAGTG 0.652000 58 95 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123963952 123963952 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:123963952G>A ENST00000314393.4 + 3 1037 c.202G>A c.(202-204)Gaa>Aaa p.E68K NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 68 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ATCTATGGGGGAAAGCCAGTC 0.493000 35 24 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329306 56329306 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:56329306C>T ENST00000443188.1 - 4 945 c.235G>A c.(235-237)Gaa>Aaa p.E79K NLRP11_ENST00000589824.2_Missense_Mutation_p.E79K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E79K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E79K|NLRP11_ENST00000592953.1_Intron NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 79 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAAAGATCTTCCTTACGCATC 0.458000 61 81 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745329 135745329 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:135745329C>T ENST00000375845.3 - 7 1143 c.1113G>A c.(1111-1113)aaG>aaA p.K371K MAP3K19_ENST00000392915.1_Silent_p.K388K|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.K258K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 AACTCTCATTCTTTCTTGATG 0.383000 25 34 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135282769 135282769 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:135282769C>T ENST00000285968.6 + 15 2114 c.2088C>T c.(2086-2088)tcC>tcT p.S696S NUP205_ENST00000440390.2_3'UTR NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 696 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AAATAGAATCCCGGTGTGAAG 0.403000 123 77 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206230981 206230981 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:206230981C>T ENST00000367126.4 + 2 1579 c.1114C>T c.(1114-1116)Ctc>Ttc p.L372F NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 372 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CGACGGCAGCCTCTCGAGCCG 0.701000 5 4 0 0 1 0 0 ANKRD39 51239 broad.mit.edu 37 2 97519293 97519293 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:97519293C>T ENST00000393537.4 - 3 360 c.253G>A c.(253-255)Gaa>Aaa p.E85K NM_016466.5 NP_057550.3 Q53RE8 ANR39_HUMAN ankyrin repeat domain 39 85 NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 6 GCTCCGCTTTCCAGCAGGAAC 0.617000 49 62 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130784896 130784896 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:130784896G>A ENST00000265909.4 - 1 1508 c.939C>T c.(937-939)ttC>ttT p.F313F SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Silent_p.F313F|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 313 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TGTAACTTAGGAATACTGGGG 0.557000 60 96 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43237099 43237099 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:43237099C>T ENST00000327495.5 - 3 730 c.546G>A c.(544-546)atG>atA p.M182I PSG3_ENST00000595140.1_Missense_Mutation_p.M182I NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 182 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TCTGACCATTCATCCACCACA 0.512000 163 204 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148365 34148365 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:34148365C>T ENST00000346193.3 - 1 2082 c.2031G>A c.(2029-2031)agG>agA p.R677R NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 677 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGTGGAATTTCCTGCCCCAGT 0.433000 83 6 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4927260 4927260 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:4927260A>G ENST00000320785.5 + 23 3483 c.3126A>G c.(3124-3126)ggA>ggG p.G1042G NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 1042 Pro-rich. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GATCCCGGGGAGCGGGTTCTG 0.687000 29 53 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202658 140202658 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140202658C>T ENST00000529859.1 + 1 1298 c.1298C>T c.(1297-1299)tCg>tTg p.S433L PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S433L|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S433L NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.637000 195 36 0 0 1 0 0 TSPAN7 7102 broad.mit.edu 37 X 38420808 38420808 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:38420808G>A ENST00000378482.2 + 1 186 c.9G>A c.(7-9)tcG>tcA p.S3S TSPAN7_ENST00000545599.1_5'UTR|TSPAN7_ENST00000422612.2_5'UTR|TSPAN7_ENST00000286824.6_Silent_p.S3S|TM4SF2_ENST00000465127.1_Intron NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 3 interspecies interaction between organisms integral to plasma membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 GTATGGCATCGAGGAGAATGG 0.706000 52 7 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42062260 42062260 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:42062260A>G ENST00000264451.6 + 10 1073 c.893A>G c.(892-894)cAt>cGt p.H298R NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 298 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GATCCTTCTCATCCGTAAGGA 0.353000 53 152 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2537724 2537724 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:2537724C>T ENST00000288709.6 - 8 926 c.686G>A c.(685-687)tGg>tAg p.W229* MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.W238* NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 238 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GTCGTCGTTCCAGATGAAGAG 0.647000 69 41 0 0 1 0 0 TRIM44 54765 broad.mit.edu 37 11 35747489 35747489 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:35747489G>A ENST00000299413.5 + 3 1072 c.765G>A c.(763-765)atG>atA p.M255I TRIM44_ENST00000532066.1_3'UTR NM_017583.4 NP_060053.2 Q96DX7 TRI44_HUMAN tripartite motif containing 44 255 intracellular protein binding|zinc ion binding endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) GGGACCAAATGAAGATGTTTA 0.408000 17 24 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80750364 80750364 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:80750364G>A ENST00000509894.1 + 21 3260 c.2431G>A c.(2431-2433)Gtt>Att p.V811I TTK_ENST00000230510.3_Missense_Mutation_p.V811I|TTK_ENST00000369798.2_Missense_Mutation_p.V812I P33981 TTK_HUMAN TTK protein kinase 812 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AATGAAATATGTTCTGGGCCA 0.299000 21 35 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73070984 73070984 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:73070984C>T ENST00000429829.1 - 0 1604 NR_001564.2 ATGCAGCAATCCAGCACTGTC 0.512000 319 22 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2153633 2153633 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:2153633G>A ENST00000262304.4 - 23 8633 c.8425C>T c.(8425-8427)Ccc>Tcc p.P2809S PKD1_ENST00000423118.1_Missense_Mutation_p.P2809S|PKD1_ENST00000561991.1_Intron NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2809 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AAAGCCTCGGGGATGGAGAAG 0.647000 28 47 0 0 1 0 0 C1orf85 112770 broad.mit.edu 37 1 156263217 156263217 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:156263217G>A ENST00000362007.1 - 5 975 c.949C>T c.(949-951)Ccc>Tcc p.P317S C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_3'UTR NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 317 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) CGGACAATGGGTGACTGGGGA 0.572000 44 40 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36259114 36259114 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:36259114C>G ENST00000394571.2 + 2 223 c.223C>G c.(223-225)Ctc>Gtc p.L75V PNPLA1_ENST00000388715.3_5'UTR|PNPLA1_ENST00000312917.5_5'UTR NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 75 Patatin. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 TCTCAGAGTCCTCAACGTGGG 0.582000 34 30 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52596091 52596091 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:52596091C>T ENST00000591504.1 - 8 897 c.623G>A c.(622-624)aGa>aAa p.R208K CCDC68_ENST00000337363.4_Missense_Mutation_p.R208K|CCDC68_ENST00000432185.1_Missense_Mutation_p.R208K NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 208 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) AGACAGTTTTCTTTCTAGTAG 0.363000 6 20 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38949515 38949515 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:38949515C>T ENST00000450244.1 - 10 1596 c.1398G>A c.(1396-1398)agG>agA p.R466R SCN11A_ENST00000444237.2_Silent_p.R466R|SCN11A_ENST00000456224.3_Silent_p.R466R|SCN11A_ENST00000302328.3_Silent_p.R466R Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 466 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGAAGGACTTCCTTTTCTTAT 0.403000 27 47 0 0 1 0 0 KRTAP3-1 83896 broad.mit.edu 37 17 39165195 39165195 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:39165195C>T ENST00000391588.1 - 1 171 c.132G>A c.(130-132)caG>caA p.Q44Q KRTAP3-1_ENST00000581033.1_5'UTR NM_031958.1 NP_114164.1 Q9BYR8 KRA31_HUMAN keratin associated protein 3-1 44 4 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00043) AGCAGATGGGCTGAAGGAGGC 0.597000 36 23 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3613385 3613385 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:3613385G>A ENST00000301749.7 - 0 1958 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAAGAGGCCGGAGAGGAAGCG 0.687000 7 3 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196199272 196199272 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:196199272G>A ENST00000318037.3 - 6 1728 c.1134C>T c.(1132-1134)tgC>tgT p.C378C NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 378 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|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;0.00348) TGATCAGTAGGCACGACTCTT 0.443000 45 109 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26620781 26620781 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:26620781G>T ENST00000374222.1 - 9 938 c.474C>A c.(472-474)ccC>ccA p.P158P UBXN11_ENST00000374221.3_Silent_p.P158P|UBXN11_ENST00000436301.2_Silent_p.P83P|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000357089.4_Silent_p.P125P|UBXN11_ENST00000535108.1_5'UTR|UBXN11_ENST00000374217.2_Silent_p.P125P Q5T124 UBX11_HUMAN UBX domain protein 11 158 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 CCTGGTCCATGGGCTCGCCCA 0.612000 66 80 3.78446e-69 3.9132e-69 1 1 0 ELFN2 114794 broad.mit.edu 37 22 37771076 37771076 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:37771076C>T ENST00000402918.1 - 3 1284 c.499G>A c.(499-501)Gac>Aac p.D167N RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.D167N NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 167 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GTGGCACCGTCCAGGCGGCTG 0.647000 101 65 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65268401 65268401 + RNA SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:65268401T>C ENST00000534336.1 + 0 3169 NR_002819.2 TTTTCAGGCTTATACTCATGA 0.403000 11 56 0 0 1 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806653 6806653 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:6806653C>T ENST00000307401.4 + 1 406 c.385C>T c.(385-387)Cct>Tct p.P129S NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CATTTGTCATCCTCTGACATA 0.537000 25 58 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112525084 112525084 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:112525084C>T ENST00000369697.1 - 1 334 c.265G>A c.(265-267)Gag>Aag p.E89K KCND3_ENST00000315987.2_Missense_Mutation_p.E89K|KCND3_ENST00000302127.4_Missense_Mutation_p.E89K Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 89 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CGGAACACCTCGGGGTCCCGG 0.622000 55 175 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179622629 179622629 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179622629C>T ENST00000589042.1 - 45 10542 c.10318G>A c.(10318-10320)Gaa>Aaa p.E3440K TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3394K|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3146 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTATTTTCTTCAAATTTGCTA 0.388000 21 43 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678703 130678703 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:130678703G>A ENST00000338616.3 + 1 754 c.656G>A c.(655-657)cGa>cAa p.R219Q NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TCCTACATACGAATTGCTATG 0.483000 144 11 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75830736 75830736 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:75830736C>T ENST00000211998.4 + 4 488 c.394C>T c.(394-396)Cgt>Tgt p.R132C VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R132C NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 132 N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) TTTTCAGGTCCGTAAAATTAT 0.368000 14 23 0 0 1 0 0 WARS2 10352 broad.mit.edu 37 1 119575764 119575764 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:119575764G>A ENST00000235521.4 - 6 879 c.853C>T c.(853-855)Ctc>Ttc p.L285F WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.L191F NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 285 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) TCCACGGAGAGCCCCGTCACC 0.627000 90 43 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49688098 49688098 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:49688098C>T ENST00000296452.4 + 4 1686 c.1572C>T c.(1570-1572)agC>agT p.S524S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 524 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TGGAGGGCAGCCTAGGAGAGC 0.587000 121 153 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9043099 9043099 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:9043099C>T ENST00000382496.5 - 23 3800 c.3135G>A c.(3133-3135)gaG>gaA p.E1045E CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1045 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TGTTTCTTTCCTCTAGGATCA 0.313000 20 16 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122618572 122618572 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:122618572C>T ENST00000377037.2 + 2 540 c.540C>T c.(538-540)ccC>ccT p.P180P MLXIP_ENST00000538698.1_Intron|MLXIP_ENST00000319080.6_Intron Q9HAP2 MLXIP_HUMAN MLX interacting protein 59 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GGGCTCCCCCCGACCCAGAGG 0.587000 12 9 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51581361 51581361 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:51581361G>C ENST00000452682.1 + 6 763 c.511G>C c.(511-513)Ggg>Cgg p.G171R NCOA4_ENST00000374082.1_Missense_Mutation_p.G155R|NCOA4_ENST00000374087.4_Missense_Mutation_p.G155R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G171R|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.G155R|NCOA4_ENST00000443446.1_Missense_Mutation_p.G155R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G55R|NCOA4_ENST00000498586.1_3'UTR NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 155 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 CACCACATTTGGGTCTCTCAA 0.443000 T RET papillary thyroid 34 91 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84270636 84270636 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:84270636G>A ENST00000428679.2 - 27 3066 c.2473C>T c.(2473-2475)Cct>Tct p.P825S SNAP91_ENST00000439399.2_Missense_Mutation_p.P825S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P518S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P820S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P518S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P825S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P820S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P795S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P825S O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 825 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GCAACAGGAGGAACTGAACTG 0.423000 19 21 0 0 1 0 0 SERPINB1 1992 broad.mit.edu 37 6 2833937 2833937 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:2833937C>T ENST00000380739.5 - 7 1247 c.1045G>A c.(1045-1047)Gaa>Aaa p.E349K SERPINB1_ENST00000537185.1_Missense_Mutation_p.E198K P30740 ILEU_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 1 349 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2) 13 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) AAATTTTCTTCGGGCATCAAC 0.448000 23 28 0 0 1 0 0 PARVA 55742 broad.mit.edu 37 11 12534912 12534912 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:12534912G>A ENST00000538608.1 + 9 780 c.644G>A c.(643-645)gGa>gAa p.G215E PARVA_ENST00000334956.8_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000539723.1_Intron Q9NVD7 PARVA_HUMAN parvin, alpha 171 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) AAAAAGGTGGGAAAGGGGTGC 0.522000 26 153 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725524 87725524 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:87725524C>T ENST00000305344.4 + 2 1175 c.472C>T c.(472-474)Ctg>Ttg p.L158L HTR1E_ENST00000369584.1_Silent_p.L158L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 158 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CATGCCCCCTCTGTTCTGGAG 0.562000 40 92 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108868931 108868931 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:108868931C>T ENST00000329106.2 + 2 283 c.283C>T c.(283-285)Ccc>Tcc p.P95S SULT1C3_ENST00000376700.1_Missense_Mutation_p.P95S NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 95 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 ACTGAAATTTCCCCATAAAGA 0.398000 26 43 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20003309 20003309 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:20003309C>T ENST00000440926.1 - 17 2013 c.1543G>A c.(1543-1545)Gag>Aag p.E515K SLC18A1_ENST00000437980.1_Missense_Mutation_p.G470E|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E483K|SLC18A1_ENST00000276373.5_Missense_Mutation_p.E515K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E483K|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G470E NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 515 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) TCACTGTCCTCCCCCAGAGGA 0.547000 24 72 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179656878 179656878 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179656878G>A ENST00000589042.1 - 10 1807 c.1583C>T c.(1582-1584)tCc>tTc p.S528F TTN_ENST00000342175.6_Missense_Mutation_p.S528F|TTN_ENST00000359218.5_Missense_Mutation_p.S528F|TTN_ENST00000342992.6_Missense_Mutation_p.S528F|TTN_ENST00000360870.5_Missense_Mutation_p.S528F|TTN_ENST00000460472.2_Missense_Mutation_p.S528F|TTN_ENST00000591111.1_Missense_Mutation_p.S528F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 528 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTAGCTGCGGAAATTACTAC 0.294000 13 22 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60776166 60776166 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:60776166C>T ENST00000313421.7 + 4 816 c.630C>T c.(628-630)gcC>gcT p.A210A CD6_ENST00000344028.5_Silent_p.A210A|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Silent_p.A210A|CD6_ENST00000352009.5_Silent_p.A210A|CD6_ENST00000452451.2_Silent_p.A210A NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 210 SRCR 2. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 CAGTCCAGGCCCTGCCCGGCT 0.692000 9 17 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102824932 102824932 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:102824932C>G ENST00000260302.3 - 4 618 c.590G>C c.(589-591)gGa>gCa p.G197A MMP13_ENST00000340273.4_Missense_Mutation_p.G197A NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 197 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) ATGGGCATCTCCTCCATAATT 0.423000 7 39 0 0 1 0 0 ODF3L2 284451 broad.mit.edu 37 19 474703 474703 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:474703G>A ENST00000315489.4 - 1 280 c.45C>T c.(43-45)gcC>gcT p.A15A ODF3L2_ENST00000382696.3_Silent_p.A15A NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 15 large_intestine(1)|lung(2) 3 GGCCAAGGGGGGCTGTGGCCA 0.711000 13 13 0 0 1 0 0 NDUFS3 4722 broad.mit.edu 37 11 47602408 47602408 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:47602408G>A ENST00000534716.2 + 4 271 c.253G>A c.(253-255)Gag>Aag p.E85K NDUFS3_ENST00000528192.1_Missense_Mutation_p.E85K|NDUFS3_ENST00000263774.4_Missense_Mutation_p.E85K|NDUFS3_ENST00000534208.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 85 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) CAATGAGTTAGAGGTCTGTAT 0.498000 122 206 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125671801 125671801 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:125671801C>T ENST00000431078.1 + 24 4221 c.3857C>T c.(3856-3858)tCc>tTc p.S1286F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1286 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTGGACAGTTCCTTCAGAAAT 0.428000 23 36 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104512186 104512186 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:104512186G>A ENST00000372582.1 + 5 1415 c.659G>A c.(658-660)gGa>gAa p.G220E IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G220E NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 220 Ig-like C2-type 2. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AAATATGAAGGAAAACTTGTA 0.333000 34 2 0 0 1 0 0 TMEM196 256130 broad.mit.edu 37 7 19765303 19765303 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:19765303G>A ENST00000405844.1 - 3 988 c.293C>T c.(292-294)tCc>tTc p.S98F TMEM196_ENST00000433641.1_Missense_Mutation_p.S30F|TMEM196_ENST00000422233.1_Missense_Mutation_p.S30F|TMEM196_ENST00000405764.3_Missense_Mutation_p.S98F|TMEM196_ENST00000493519.1_Missense_Mutation_p.S30F Q5HYL7 TM196_HUMAN transmembrane protein 196 104 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 GTATAGGGAGGAAGTTTTCTT 0.502000 22 28 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8609072 8609072 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:8609072G>A ENST00000382480.2 + 7 1536 c.736G>A c.(736-738)Gac>Aac p.D246N CPZ_ENST00000315782.6_Missense_Mutation_p.D372N|CPZ_ENST00000360986.4_Missense_Mutation_p.D383N|CPZ_ENST00000429646.2_5'UTR NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 383 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCATGGGGGCGACCTGGTGGT 0.607000 OREG0016100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 86 90 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122439497 122439497 + Silent SNP C C T rs138943666 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:122439497C>T ENST00000288912.4 + 21 4184 c.3330C>T c.(3328-3330)tcC>tcT p.S1110S NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1110 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CAACCTGCTCCGTCAAAGGTA 0.507000 82 64 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33330872 33330872 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:33330872G>A ENST00000374796.2 - 12 5758 c.3188C>T c.(3187-3189)cCc>cTc p.P1063L NCOA6_ENST00000359003.2_Missense_Mutation_p.P1063L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1063 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.P1063L(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTGGGAGTCGGGGTTCAGGGG 0.527000 158 225 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45288156 45288156 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:45288156G>A ENST00000372192.3 - 22 3673 c.3543C>T c.(3541-3543)ccC>ccT p.P1181P PTCH2_ENST00000447098.2_Intron NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 1181 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GGGACCAAGGGGGCTCATCAG 0.627000 Basal Cell Nevus syndrome 71 42 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196199271 196199271 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:196199271G>A ENST00000318037.3 - 6 1729 c.1135C>T c.(1135-1137)Cta>Tta p.L379L NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 379 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|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;0.00348) CTGATCAGTAGGCACGACTCT 0.448000 45 109 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26912209 26912209 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:26912209T>C ENST00000321765.5 - 10 2310 c.1978A>G c.(1978-1980)Agt>Ggt p.S660G NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 660 Gln-rich. cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CGGGACCGACTCAGCAAAGCT 0.498000 102 71 0 0 1 0 0 TEX33 339669 broad.mit.edu 37 22 37398061 37398061 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:37398061C>T ENST00000405091.2 - 4 557 c.306G>A c.(304-306)tcG>tcA p.S102S TEX33_ENST00000381821.1_Silent_p.S102S|TEX33_ENST00000402860.3_Silent_p.S17S O43247 EAN57_HUMAN testis expressed 33 102 TGTTCTCTCTCGAGGAGGATC 0.657000 14 14 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36625327 36625327 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:36625327C>T ENST00000373448.2 - 7 3060 c.2822G>A c.(2821-2823)gGt>gAt p.G941D TTI1_ENST00000449821.1_Missense_Mutation_p.G941D|TTI1_ENST00000373447.3_Missense_Mutation_p.G941D NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 941 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 AAGAAAGTCACCACACTTGCT 0.542000 75 126 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130079376 130079376 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:130079376T>C ENST00000278742.5 + 18 2727 c.2309T>C c.(2308-2310)gTc>gCc p.V770A NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 770 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GAGATCCGCGTCATCAACCAG 0.662000 3 17 0 0 1 0 0 CTD-2192J16.20 0 broad.mit.edu 37 19 12691741 12691741 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:12691741G>A ENST00000593682.1 - 1 48 c.49C>T c.(49-51)Ctc>Ttc p.L17F ZNF490_ENST00000311437.6_Missense_Mutation_p.T383I TCCAAAATGAGTTCTTTCGTG 0.413000 59 64 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155307003 155307003 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:155307003G>A ENST00000392825.3 + 13 2178 c.1611G>A c.(1609-1611)caG>caA p.Q537Q GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 537 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 CTACAATGCAGGACTGTAGTG 0.443000 23 24 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6194852 6194852 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:6194852C>T ENST00000262450.3 - 19 3037 c.2938G>A c.(2938-2940)Gta>Ata p.V980I CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 980 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AGCAGCGATACTTGGTTCCCG 0.567000 312 188 0 0 1 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101450243 101450243 + RNA SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:101450243A>G ENST00000554693.2 + 0 799 SNORD114-23_ENST00000363536.1_RNA GTGGCGTATGAGTCATAGACA 0.363000 46 72 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40981663 40981663 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:40981663G>A ENST00000313164.9 + 18 2879 c.2520G>A c.(2518-2520)gcG>gcA p.A840A NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 840 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CTTGTGCTGCGGAAACCCAGT 0.587000 8 13 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3225781 3225781 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:3225781C>T ENST00000355072.5 + 56 7833 c.7688C>T c.(7687-7689)tCa>tTa p.S2563L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2563 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCAATGGTTTCAAAGAGAGAG 0.453000 140 136 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925336 27925336 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:27925336C>T ENST00000244623.1 + 1 318 c.318C>T c.(316-318)gcC>gcT p.A106A NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TATTTCTGGCCTTGGGGGCTA 0.448000 23 41 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100212554 100212554 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:100212554G>A ENST00000393950.2 + 4 858 c.576G>A c.(574-576)gtG>gtA p.V192V MOSPD3_ENST00000424091.2_Silent_p.V182V|MOSPD3_ENST00000379527.2_Silent_p.V192V|MOSPD3_ENST00000223054.4_Silent_p.V192V NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 192 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TTGTGTCTGTGGCCTTCCTGC 0.612000 179 124 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319147 21319147 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:21319147C>T ENST00000583088.1 + 3 1388 c.493C>T c.(493-495)Cag>Tag p.Q165* KCNJ12_ENST00000331718.5_Nonsense_Mutation_p.Q165* NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GGTGGTGGCCCAGTCCATCGT 0.622000 Prostate(3;0.18) 16 133 0 0 1 0 0 FAM209B 388799 broad.mit.edu 37 20 55111278 55111278 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:55111278G>A ENST00000371325.1 + 2 396 c.300G>A c.(298-300)aaG>aaA p.K100K NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 100 integral to membrane CTCCACTAAAGAAAAATCAAA 0.393000 18 100 0 0 1 0 0 CLEC4C 170482 broad.mit.edu 37 12 7894035 7894035 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:7894035C>T ENST00000542353.1 - 4 707 c.217G>A c.(217-219)Gaa>Aaa p.E73K CLEC4C_ENST00000354629.5_Missense_Mutation_p.E42K|CLEC4C_ENST00000360345.3_Missense_Mutation_p.E73K|CLEC4C_ENST00000540085.1_Missense_Mutation_p.E42K NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 73 innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) TCCTTTCCTTCCATGACGCAG 0.413000 85 108 0 0 1 0 0 MYC 4609 broad.mit.edu 37 8 128750708 128750708 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:128750708C>T ENST00000377970.2 + 2 755 c.245C>T c.(244-246)tCc>tTc p.S82F MYC_ENST00000524013.1_Missense_Mutation_p.S81F|MYC_ENST00000259523.6_Missense_Mutation_p.S67F NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 67 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) AGCCGCCGCTCCGGGCTCTGC 0.692000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 26 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247694932 247694932 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:247694932C>T ENST00000366487.3 - 2 1243 c.882G>A c.(880-882)agG>agA p.R294R GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CCTCCGTGTTCCTCAGGGTGT 0.547000 35 55 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185039047 185039047 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:185039047G>A ENST00000296741.2 - 4 681 c.540C>T c.(538-540)ggC>ggT p.G180G NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 180 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GGTCGGCCCGGCCACTCCTGG 0.617000 15 31 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565289 58565289 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:58565289G>A ENST00000282326.1 + 6 1344 c.1097G>A c.(1096-1098)gGa>gAa p.G366E NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 366 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCAGGGATGGAGCCCAGGGC 0.662000 23 28 0 0 1 0 0 PHF10 55274 broad.mit.edu 37 6 170110429 170110429 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:170110429G>A ENST00000339209.4 - 9 1139 c.1016C>T c.(1015-1017)tCt>tTt p.S339F PHF10_ENST00000366780.4_Missense_Mutation_p.S337F NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 339 nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) TCCCTGGAAAGAGTCCTCCTG 0.458000 38 38 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90381983 90381983 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:90381983G>A ENST00000369393.3 - 82 13845 c.13730C>T c.(13729-13731)gCc>gTc p.A4577V MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.A4577V Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4577 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 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) CTCGGAGATGGCAGAAATTAT 0.468000 65 41 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271759 22271759 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:22271759G>A ENST00000594947.1 + 4 1351 c.1207G>A c.(1207-1209)Gat>Aat p.D403N NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) CTACAAATGTGATGAATATTG 0.388000 11 9 0 0 1 0 0 LAPTM5 7805 broad.mit.edu 37 1 31211796 31211796 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:31211796C>T ENST00000294507.3 - 5 575 c.501G>A c.(499-501)atG>atA p.M167I NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 167 transport integral to plasma membrane|lysosomal membrane large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) CCATGTGGTTCATGGACTTGA 0.552000 17 19 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 237028857 237028857 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:237028857C>T ENST00000409538.1 + 16 3268 c.2772C>T c.(2770-2772)atC>atT p.I924I AGAP1_ENST00000336665.5_Silent_p.I659I|AGAP1_ENST00000304032.7_Silent_p.I712I|AGAP1_ENST00000428334.2_Silent_p.I551I Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 712 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AACGGTGGATCCGTGCCAAGT 0.667000 66 54 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40589724 40589724 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:40589724G>A ENST00000260402.3 - 13 1570 c.1321C>T c.(1321-1323)Cca>Tca p.P441S PLCB2_ENST00000557821.1_Missense_Mutation_p.P441S|PLCB2_ENST00000456256.2_Missense_Mutation_p.P441S NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 441 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CCACTCACTGGGAACTTTTCC 0.597000 65 63 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40844654 40844654 + Nonsense_Mutation SNP C C T rs144659252 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:40844654C>T ENST00000264638.4 + 17 2885 c.2668C>T c.(2668-2670)Cga>Tga p.R890* CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 890 Laminin G-like 3. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GGCCCGGCTCCGAGTGGATCA 0.572000 110 128 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72736948 72736948 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:72736948C>T ENST00000392610.1 + 2 176 c.135C>T c.(133-135)ttC>ttT p.F45F RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Silent_p.F50F|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000528438.1_Silent_p.F18F|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000392613.5_Silent_p.F45F Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 45 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 AAACATGTTTCCTGATCCAAT 0.572000 191 292 0 0 1 0 0 ROM1 6094 broad.mit.edu 37 11 62380861 62380861 + Silent SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:62380861C>A ENST00000278833.3 + 1 649 c.108C>A c.(106-108)ctC>ctA p.L36L ROM1_ENST00000534093.1_Intron NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 36 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 GCGTCATCCTCCTCTGTAGTG 0.687000 14 17 1.64113e-05 1.65242e-05 1 1 0 NTRK3 4916 broad.mit.edu 37 15 88423659 88423659 + Splice_Site SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:88423659C>A ENST00000394480.1 - 18 2455 c.2133_splice c.e18-1 p.V712_splice NTRK3_ENST00000357724.2_Splice_Site_p.V718_splice|NTRK3_ENST00000355254.2_Splice_Site_p.V712_splice|NTRK3_ENST00000557856.1_Splice_Site_p.V704_splice|NTRK3_ENST00000360948.2_Splice_Site_p.V726_splice NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 726 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TGTCCTCCCACCTAAAAGGGG 0.502000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 17 30 2.32416e-17 2.36079e-17 1 1 0 CFB 629 broad.mit.edu 37 6 31896607 31896607 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:31896607G>A ENST00000477310.1 + 3 384 c.355G>A c.(355-357)Gat>Aat p.D119N C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.D119N|C2_ENST00000299367.5_Missense_Mutation_p.D119N P00751 CFAB_HUMAN complement factor B 133 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CGAGTGTGAGGATGGCTTCAT 0.577000 100 125 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308161 72308161 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:72308161G>A ENST00000579490.1 + 11 1820 c.1685G>A c.(1684-1686)cGg>cAg p.R562Q DNAI2_ENST00000311014.6_Missense_Mutation_p.R505Q|DNAI2_ENST00000582036.1_Missense_Mutation_p.R493Q|DNAI2_ENST00000446837.2_Missense_Mutation_p.R505Q|DNAI2_ENST00000307504.5_Missense_Mutation_p.R362Q Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 505 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CGTGAGACCCGGCGAGAGAAG 0.662000 Kartagener syndrome 34 61 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143995794 143995794 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:143995794G>A ENST00000323110.2 - 5 842 c.840C>T c.(838-840)ttC>ttT p.F280F NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 280 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GAGGGCGGTTGAAGGCCAGTT 0.547000 Familial Hyperaldosteronism type I 14 33 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76462806 76462806 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:76462806G>A ENST00000389840.5 - 56 8953 c.8829C>T c.(8827-8829)ttC>ttT p.F2943F DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.F2952F dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCCACTCGTGGAACCAGTCGA 0.627000 42 50 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231339757 231339757 + Splice_Site SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:231339757G>T ENST00000444294.3 + 6 2531 c.1674_splice c.e6+1 p.R558_splice TRIM67_ENST00000366652.2_Splice_Site_p.R560_splice|TRIM67_ENST00000366653.5_Splice_Site_p.R560_splice|TRIM67_ENST00000449018.3_Splice_Site_p.R498_splice NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 560 Fibronectin type-III. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GGACAGTTCCGGGTGAGGCCT 0.632000 54 38 1.931e-44 1.98903e-44 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40424134 40424134 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:40424134G>A ENST00000221347.6 - 4 2076 c.2069C>T c.(2068-2070)aCc>aTc p.T690I NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 690 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGGGTCCAGGGTGTCATGGCA 0.652000 182 204 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30672023 30672023 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:30672023G>A ENST00000376406.3 - 10 5584 c.4937C>T c.(4936-4938)tCt>tTt p.S1646F MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1382F NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1646 cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 AGTCTTGACAGAGGACCTATT 0.577000 Other conserved DNA damage response genes 100 143 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55780074 55780074 + Silent SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:55780074A>G ENST00000373965.2 - 21 3044 c.2650T>C c.(2650-2652)Tta>Cta p.L884L PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.L488L|PCDH15_ENST00000320301.6_Silent_p.L877L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.L806L|PCDH15_ENST00000395445.1_Silent_p.L884L|PCDH15_ENST00000395430.1_Silent_p.L877L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L877L|PCDH15_ENST00000361849.3_Silent_p.L877L|PCDH15_ENST00000373955.1_Silent_p.L877L|PCDH15_ENST00000395433.1_Silent_p.L855L|PCDH15_ENST00000414778.1_Silent_p.L882L|PCDH15_ENST00000395432.2_Silent_p.L840L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 877 Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AAACTCCTTAAAAGCGATAGT 0.413000 HNSCC(58;0.16) 29 67 0 0 1 0 0 IFNL3 282617 broad.mit.edu 37 19 39734710 39734710 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:39734710C>T ENST00000413851.2 - 3 384 c.346G>A c.(346-348)Ggg>Agg p.G116R NM_172139.2 NP_742151.2 interferon, lambda 3 AAGACATCCCCCAGGGCTGGG 0.662000 115 111 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91630434 91630434 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:91630434C>T ENST00000359028.2 + 9 1464 c.1239C>T c.(1237-1239)gtC>gtT p.V413V AKAP9_ENST00000356239.3_Silent_p.V401V|AKAP9_ENST00000358100.2_Silent_p.V413V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 413 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGGGGACAGTCGAAGAACTTC 0.343000 T BRAF papillary thyroid 29 26 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81791162 81791162 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:81791162C>T ENST00000358105.3 + 4 398 c.349C>T c.(349-351)Cgt>Tgt p.R117C C4orf22_ENST00000508675.1_Missense_Mutation_p.R134C NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 117 p.R117C(1) NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 GATCTTTATTCGTGACAGAAA 0.358000 30 46 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157557226 157557226 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:157557226G>A ENST00000271532.1 - 5 822 c.687C>T c.(685-687)ttC>ttT p.F229F FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 229 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CATCTCTGAAGAAGTTGAAGT 0.527000 159 134 0 0 1 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185269669 185269669 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:185269669C>A ENST00000367498.3 - 11 1764 c.1142G>T c.(1141-1143)tGt>tTt p.C381F IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.C163F NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 381 interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 TGTTCGAAGACATTCCTCTCT 0.388000 27 74 2.75727e-19 2.80604e-19 1 1 0 AXDND1 126859 broad.mit.edu 37 1 179380307 179380307 + Missense_Mutation SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:179380307A>C ENST00000367618.3 + 12 1523 c.1136A>C c.(1135-1137)tAt>tCt p.Y379S AXDND1_ENST00000457238.2_Missense_Mutation_p.Y379S|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 379 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 CATGACTTATATACATTACAA 0.289000 53 52 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128368934 128368934 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:128368934G>A ENST00000262462.4 + 10 2829 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K SLC27A6_ENST00000395266.1_Missense_Mutation_p.E607K|SLC27A6_ENST00000506176.1_Missense_Mutation_p.E607K Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 607 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) ACTGACCAGGGAACTTTATGA 0.338000 13 3 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834809 125834809 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:125834809G>A ENST00000299308.3 + 2 872 c.864G>A c.(862-864)ctG>ctA p.L288L NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 288 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CGGTACCTCTGAATCTAGTCC 0.547000 247 163 0 0 1 0 0 SLC25A37 51312 broad.mit.edu 37 8 23428959 23428959 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:23428959C>T ENST00000519973.1 + 4 806 c.608C>T c.(607-609)aCg>aTg p.T203M NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 203 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) AGCTACACCACGCAGCTGACC 0.602000 60 60 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170828642 170828642 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:170828642C>T ENST00000436636.2 - 19 2489 c.2145G>A c.(2143-2145)gaG>gaA p.E715E TNIK_ENST00000357327.5_Silent_p.E686E|TNIK_ENST00000284483.8_Silent_p.E715E|TNIK_ENST00000341852.6_Silent_p.E631E|TNIK_ENST00000369326.5_Silent_p.E686E|TNIK_ENST00000538048.1_Silent_p.E660E|TNIK_ENST00000488470.1_Silent_p.E660E|TNIK_ENST00000470834.1_Silent_p.E686E|TNIK_ENST00000460047.1_Silent_p.E660E|TNIK_ENST00000475336.1_Silent_p.E631E NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 715 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCAAGATGGGCTCAGTTCTCC 0.572000 4 20 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61585313 61585313 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr18:61585313G>A ENST00000238508.3 + 4 408 c.349G>A c.(349-351)Gag>Aag p.E117K NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) GATATATGGAGAGAAAACGTA 0.353000 12 33 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57003999 57003999 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:57003999C>T ENST00000606794.1 - 1 676 c.480G>A c.(478-480)ctG>ctA p.L160L NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 160 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CAGGCATGGCCAGGAGGGCGG 0.637000 25 56 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308740 140308740 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:140308740C>T ENST00000253807.2 + 1 2263 c.2263C>T c.(2263-2265)Ctc>Ttc p.L755F PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L755F|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGACTTATCTCTATCGGGC 0.473000 74 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179463960 179463960 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179463960C>T ENST00000589042.1 - 290 56784 c.56560G>A c.(56560-56562)Gaa>Aaa p.E18854K TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9981K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9914K|TTN_ENST00000342992.6_Missense_Mutation_p.E16286K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9789K|TTN_ENST00000591111.1_Missense_Mutation_p.E17213K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17213 Ig-like 107. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATACATATTCATGGCCTTCT 0.428000 77 103 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9836604 9836604 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:9836604C>T ENST00000506583.1 - 13 1450 c.1233G>A c.(1231-1233)gaG>gaA p.E411E SLC2A9_ENST00000264784.3_Silent_p.E440E|SLC2A9_ENST00000309065.3_Silent_p.E411E Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 440 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GCTGGAAGAACTCACCAGTCA 0.532000 53 73 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777424 123777424 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:123777424G>A ENST00000321355.2 + 1 316 c.286G>A c.(286-288)Gga>Aga p.G96R NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CTCCTATTCTGGATGCATGAT 0.428000 99 121 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253509 65253509 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:65253509C>T ENST00000389722.3 - 15 3227 c.3174G>A c.(3172-3174)ggG>ggA p.G1058G SPTB_ENST00000542895.1_Silent_p.G1058G|SPTB_ENST00000389720.3_Silent_p.G1058G|SPTB_ENST00000389721.5_Silent_p.G1058G|SPTB_ENST00000556626.1_Silent_p.G1058G NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1058 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGCTGACTTCCCCCAGCAAGT 0.602000 56 45 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36840587 36840587 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:36840587C>T ENST00000557188.1 + 0 218 TTCAAAGATCCAGGAGAAGCT 0.448000 3 16 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14839148 14839148 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:14839148C>T ENST00000261170.3 - 3 478 c.342G>A c.(340-342)cgG>cgA p.R114R RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 114 R -> Q (in dbSNP:rs56275235). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CACAGCCCATCCGTTGTGCAT 0.438000 21 33 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914959 46914959 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:46914959T>C ENST00000307522.3 - 1 1882 c.1109A>G c.(1108-1110)gAg>gGg p.E370G NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 370 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) AGCTGGGGCCTCTGCCCTCTG 0.607000 5 374 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154942595 154942595 + Silent SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:154942595G>C ENST00000448116.2 - 1 628 c.408C>G c.(406-408)cgC>cgG p.R136R SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Silent_p.R26R|SHC1_ENST00000368450.1_Silent_p.R26R|SHC1_ENST00000368445.5_Silent_p.R136R|SHC1_ENST00000606391.1_Intron NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 136 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGCTCCCGTGGCGGGTCCACT 0.647000 54 81 0 0 1 0 0 RAB21 23011 broad.mit.edu 37 12 72148967 72148967 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:72148967T>G ENST00000261263.3 + 1 314 c.58T>G c.(58-60)Ttc>Gtc p.F20V NM_014999.2 NP_055814.1 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 20 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1) 6 AGCCTACTCGTTCAAGGTGGT 0.716000 4 152 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39659657 39659657 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:39659657G>A ENST00000246635.3 - 3 663 c.617C>T c.(616-618)gCc>gTc p.A206V KRT13_ENST00000336861.3_Missense_Mutation_p.A206V|KRT13_ENST00000587544.1_Missense_Mutation_p.A206V NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 206 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) GTTGATGTCGGCCTCCACGCT 0.468000 35 83 0 0 1 0 0 NEK9 91754 broad.mit.edu 37 14 75585546 75585546 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:75585546G>A ENST00000238616.5 - 5 775 c.617C>T c.(616-618)tCc>tTc p.S206F NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 206 Protein kinase. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) CTCAGCCATGGAATACTCAGA 0.328000 33 6 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254603 3254603 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:3254603C>T ENST00000304646.2 + 1 357 c.357C>T c.(355-357)gcC>gcT p.A119A AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 CTGTGATGGCCTATGACCACT 0.502000 171 31 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52825827 52825827 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:52825827C>T ENST00000595962.1 + 5 1390 c.1324C>T c.(1324-1326)Ctt>Ttt p.L442F ZNF480_ENST00000335090.6_Missense_Mutation_p.L365F|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.L399F|ZNF480_ENST00000490272.1_3'UTR NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GTATTCAGGCCTTTCAGCCCA 0.393000 61 107 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8020163 8020163 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:8020163T>G ENST00000380149.1 - 2 781 c.751A>C c.(751-753)Agt>Cgt p.S251R ALOXE3_ENST00000318227.3_Missense_Mutation_p.S227R|ALOXE3_ENST00000448843.2_Missense_Mutation_p.S95R Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 95 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TGGGATACACTACCATCCGGT 0.567000 37 159 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287704 46287704 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:46287704C>T ENST00000378966.3 + 2 852 c.436C>T c.(436-438)Ctg>Ttg p.L146L SPERT_ENST00000310521.1_Silent_p.L182L Q8NA61 SPERT_HUMAN spermatid associated 182 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GAACAAGGCCCTGCGCGAGGA 0.627000 80 98 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153035694 153035694 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:153035694C>T ENST00000538966.1 + 9 2117 c.1846C>T c.(1846-1848)Cca>Tca p.P616S PLXNB3_ENST00000538543.1_Missense_Mutation_p.P143S|PLXNB3_ENST00000361971.5_Missense_Mutation_p.P593S|PLXNB3_ENST00000538282.1_Missense_Mutation_p.P203S|PLXNB3_ENST00000538776.1_Missense_Mutation_p.P246S NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 593 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACTTAACCCTCCAGGCACAGG 0.637000 66 6 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111137338 111137338 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:111137338G>A ENST00000360467.5 + 33 3295 c.2989G>A c.(2989-2991)Ggg>Agg p.G997R NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 997 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGGAGATGAAGGGCCTATGGG 0.617000 5 42 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790485 133790485 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:133790485G>A ENST00000321016.8 - 18 3365 c.3135C>T c.(3133-3135)ttC>ttT p.F1045F IGSF9B_ENST00000533871.2_Silent_p.F1045F Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1045 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCCCGAAGGGGAATTCTGGCC 0.662000 91 106 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67699601 67699601 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:67699601C>T ENST00000545606.1 + 10 2590 c.2153C>T c.(2152-2154)aCt>aTt p.T718I NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 718 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TTTCTTACCACTTTGGCAAAA 0.433000 57 436 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921760 130921760 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:130921760C>T ENST00000261655.4 - 10 1845 c.1682G>A c.(1681-1683)gGc>gAc p.G561D RIMBP2_ENST00000535703.1_Missense_Mutation_p.G469D|RIMBP2_ENST00000536002.1_Missense_Mutation_p.G469D NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 561 Fibronectin type-III 3. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CACGGTCACGCCCTTGGCCTC 0.687000 11 2 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897927 36897927 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:36897927C>T ENST00000301807.6 - 12 3401 c.1504G>A c.(1504-1506)Gtt>Att p.V502I TRANK1_ENST00000428977.2_Missense_Mutation_p.V502I|TRANK1_ENST00000429976.2_Missense_Mutation_p.V1052I NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1052 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.V502I(2)|p.V1052I(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCCCAGTAAACGTGGAATTTC 0.532000 9 11 0 0 1 0 0 RASSF5 83593 broad.mit.edu 37 1 206681268 206681268 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:206681268G>A ENST00000338603.2 + 1 390 c.333G>A c.(331-333)caG>caA p.Q111Q RASSF5_ENST00000355294.4_Silent_p.Q111Q|RASSF5_ENST00000367117.3_Silent_p.Q111Q NM_182663.2 NP_872604.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 111 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) AGCAGCCGCAGGATCCCAGAG 0.746000 4 5 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285489 48285489 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:48285489C>T ENST00000320048.1 + 1 77 c.77C>T c.(76-78)tCt>tTt p.S26F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S26Y(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 AGGGTCATTTCTGTGATGTTT 0.463000 32 37 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26676320 26676320 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:26676320G>A ENST00000288710.2 + 14 1896 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) aggggagaaggaagaagagga 0.572000 9 36 0 0 1 0 0 SEPT4 5414 broad.mit.edu 37 17 56599282 56599282 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:56599282C>T ENST00000426861.1 - 6 872 c.786G>A c.(784-786)aaG>aaA p.K262K SEPT4_ENST00000393086.1_Intron|SEPT4_ENST00000583114.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000580809.1_Silent_p.K163K|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000317268.3_Intron NM_080415.2 NP_536340.1 O43236 SEPT4_HUMAN septin 4 0 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCCTGTTCCCTTGACAGCAC 0.597000 51 70 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204197881 204197881 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:204197881T>C ENST00000272203.3 - 20 3176 c.2860A>G c.(2860-2862)Atc>Gtc p.I954V PLEKHA6_ENST00000414478.1_Missense_Mutation_p.I974V NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 954 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) AGTGTCTTGATCCTCTCCACC 0.547000 36 71 0 0 1 0 0 DERA 51071 broad.mit.edu 37 12 16111229 16111229 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:16111229C>T ENST00000428559.2 + 3 449 c.237C>T c.(235-237)atC>atT p.I79I DERA_ENST00000532964.1_Silent_p.I79I|DERA_ENST00000526530.1_5'UTR NM_015954.2 NP_057038.2 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase (putative) 79 deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process cytoplasm deoxyribose-phosphate aldolase activity|protein binding endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 Hepatocellular(102;0.121) AATACCCAATCCGGGAAGATC 0.358000 11 7 0 0 1 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41265055 41265055 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:41265055G>C ENST00000357137.4 + 2 201 c.117G>C c.(115-117)agG>agC p.R39S XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R16S|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.R39S|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.R39S NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 39 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 TCCCAGAAAGGAGGATTCCAA 0.458000 99 82 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47985697 47985697 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:47985697C>T ENST00000318711.7 + 36 4422 c.4239C>T c.(4237-4239)gaC>gaT p.D1413D DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Silent_p.D1412D|DIP2A_ENST00000400274.1_Silent_p.D1408D NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1412 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TTCATGCCGACCACTTCAGTG 0.587000 38 86 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10215381 10215381 + Missense_Mutation SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:10215381A>G ENST00000418404.3 - 31 4541 c.4378T>C c.(4378-4380)Tgg>Cgg p.W1460R MYH13_ENST00000570743.1_Missense_Mutation_p.W1460R|MYH13_ENST00000252172.4_Missense_Mutation_p.W1460R Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1460 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTTTGCTTCCACTCTGCAAGG 0.507000 19 40 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207787770 207787770 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:207787770T>C ENST00000367049.4 + 40 6597 c.6597T>C c.(6595-6597)tcT>tcC p.S2199S CR1_ENST00000367053.1_Silent_p.S1749S|CR1_ENST00000400960.2_Silent_p.S1749S|CR1_ENST00000367052.1_Silent_p.S1749S|CR1_ENST00000367051.1_Silent_p.S1749S NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1749 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAGGCAGGTCTGCTAGTCATT 0.423000 7 87 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135079073 135079073 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:135079073G>A ENST00000428680.2 - 10 1494 c.1215C>T c.(1213-1215)ttC>ttT p.F405F CNOT4_ENST00000423368.2_Silent_p.F408F|CNOT4_ENST00000315544.5_Silent_p.F408F|CNOT4_ENST00000451834.1_Silent_p.F405F|CNOT4_ENST00000414802.1_Silent_p.F408F|CNOT4_ENST00000356162.4_Silent_p.F408F|CNOT4_ENST00000361528.4_Silent_p.F405F|CNOT4_ENST00000541284.1_Silent_p.F408F NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 408 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GAGTGACATCGAAGGGATCAA 0.468000 61 56 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643672 94643672 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:94643672C>T ENST00000260526.6 - 21 2714 c.2532G>A c.(2530-2532)gtG>gtA p.V844V ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 844 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTCCAAATATCACCCCCAAGT 0.423000 72 46 0 0 1 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45949594 45949594 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:45949594G>T ENST00000531526.1 + 12 1839 c.1728G>T c.(1726-1728)ctG>ctT p.L576L GYLTL1B_ENST00000401752.1_Silent_p.L576L|GYLTL1B_ENST00000529052.1_Silent_p.L545L|GYLTL1B_ENST00000325468.5_Silent_p.L576L|GYLTL1B_ENST00000536139.1_Silent_p.L545L NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 576 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) TGGCCTTGCTGGATGCGGGCA 0.632000 43 73 1.11015e-26 1.13408e-26 1 1 0 GTF2B 2959 broad.mit.edu 37 1 89329731 89329731 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:89329731G>A ENST00000370500.5 - 3 309 c.191C>T c.(190-192)cCa>cTa p.P64L GTF2B_ENST00000494819.1_5'UTR NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 64 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) AACTCGAGATGGATCTTTTGT 0.398000 28 92 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224716 77224716 + Silent SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:77224716G>T ENST00000458128.1 - 1 419 c.420C>A c.(418-420)cgC>cgA p.R140R ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 140 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CTGCATACCTGCGATCCTTAC 0.527000 80 9 4.10028e-47 4.2262e-47 1 1 0 BAHCC1 57597 broad.mit.edu 37 17 79410078 79410078 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:79410078C>T ENST00000307745.7 + 9 1703 c.1703C>T c.(1702-1704)tCc>tTc p.S568F AAGCGCAAGTCCCTGGAGCTG 0.701000 43 73 0 0 1 0 0 UBE2H 7328 broad.mit.edu 37 7 129497352 129497352 + Splice_Site SNP A A C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:129497352A>C ENST00000355621.3 - 5 690 c.298_splice c.e5+1 p.Y99_splice UBE2H_ENST00000473814.2_Intron NM_001202498.1|NM_003344.3 NP_001189427.1|NP_003335.1 P62256 UBE2H_HUMAN ubiquitin-conjugating enzyme E2H 99 protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin-protein ligase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1) 10 Melanoma(18;0.0435) CAAACTCACCATAGAGAGCTG 0.338000 33 73 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48264888 48264888 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:48264888C>G ENST00000225964.5 - 46 3498 c.3380G>C c.(3379-3381)gGt>gCt p.G1127A NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1127 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCTTGTTCACCAGGAGAGCC 0.597000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 14 89 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179395360 179395360 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179395360C>T ENST00000589042.1 - 358 106206 c.105982G>A c.(105982-105984)Gaa>Aaa p.E35328K TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26455K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26388K|TTN_ENST00000342992.6_Missense_Mutation_p.E32760K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26263K|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33687K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33687 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCCATTTTCCTTCAGTTTC 0.388000 33 31 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70064192 70064192 + Missense_Mutation SNP C C T rs142863825 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:70064192C>T ENST00000370598.1 + 27 4348 c.3527C>T c.(3526-3528)tCg>tTg p.S1176L BAI3_ENST00000238918.8_Missense_Mutation_p.S382L|BAI3_ENST00000546190.1_Missense_Mutation_p.S140L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1176 Poly-Ser. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TCTTCGAGTTCGTTTCCTAAT 0.393000 35 63 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2458006 2458006 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:2458006G>A ENST00000378466.3 - 1 33 c.21C>T c.(19-21)agC>agT p.S7S PANK4_ENST00000435556.3_Silent_p.S7S NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 7 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCCCGCTGCCGCTCGCTCCAC 0.592000 56 184 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440590 40440590 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:40440590G>A ENST00000319592.4 - 4 1030 c.321C>T c.(319-321)gaC>gaT p.D107D RBM47_ENST00000295971.7_Silent_p.D107D|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.D69D|RBM47_ENST00000381793.2_Silent_p.D107D|RBM47_ENST00000381795.6_Silent_p.D107D A0AV96 RBM47_HUMAN RNA binding motif protein 47 107 RRM 1. nucleus nucleotide binding|RNA binding p.D107D(3) breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GGTTCTTGCCGTCAAAGTCCA 0.647000 125 113 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25811773 25811773 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:25811773C>T ENST00000244527.4 - 10 1146 c.1030_splice c.e10-1 p.G344_splice SLC17A1_ENST00000476801.1_Splice_Site_p.G344_splice|SLC17A1_ENST00000427328.1_Splice_Site_p.G290_splice|SLC17A1_ENST00000468082.1_Splice_Site_p.G290_splice NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 344 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAGGAGAAATCCTGGGGAGTG 0.473000 35 45 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823716 47823716 + Missense_Mutation SNP C C T rs146163744 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:47823716C>T ENST00000355085.3 + 2 704 c.682C>T c.(682-684)Cgg>Tgg p.R228W NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 228 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity p.R228R(1)|p.R228W(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CATCCTGCTCCGGACGTGGAG 0.612000 116 137 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66462576 66462576 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:66462576C>T ENST00000404260.3 + 29 7886 c.7578C>T c.(7576-7578)tcC>tcT p.S2526S MAST4_ENST00000403666.1_Silent_p.S2334S|MAST4_ENST00000261569.7_Silent_p.S2329S|MAST4_ENST00000405643.1_Silent_p.S2344S|MAST4_ENST00000403625.2_Silent_p.S2523S O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2526 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCCTGCCCTCCTTCCGGGTCT 0.667000 10 12 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63188832 63188832 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:63188832G>A ENST00000399298.3 - 4 825 c.457C>T c.(457-459)Ctg>Ttg p.L153L TMEM26_ENST00000399293.1_Silent_p.L153L NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 153 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AGCATTAACAGGAATGTCTGA 0.418000 15 44 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422233 47422233 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:47422233G>T ENST00000404338.3 + 1 301 c.301G>T c.(301-303)Gat>Tat p.D101Y NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 101 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TGAATTTATTGATGATCAGAC 0.468000 89 118 1.99536e-56 2.05927e-56 1 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137722 40137722 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:40137722G>A ENST00000278198.2 - 2 2084 c.121C>T c.(121-123)Ctg>Ttg p.L41L LRRC4C_ENST00000530763.1_Silent_p.L41L|LRRC4C_ENST00000528697.1_Silent_p.L41L|LRRC4C_ENST00000527150.1_Silent_p.L41L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 41 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GCCCGCACCAGACCAGCCACC 0.537000 15 13 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900458 123900458 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:123900458C>G ENST00000431524.1 + 1 162 c.129C>G c.(127-129)atC>atG p.I43M NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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;0.0521) ACCTCCTCATCCTGCTGGTGA 0.572000 7 204 0 0 1 0 0 SLC38A6 145389 broad.mit.edu 37 14 61497233 61497233 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:61497233C>T ENST00000354886.2 + 6 638 c.474C>T c.(472-474)gaC>gaT p.D158D SLC38A6_ENST00000267488.4_Silent_p.D158D|SLC38A6_ENST00000456840.2_Silent_p.D135D NM_001172702.1 NP_001166173.1 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 158 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TGACTGGAGACTATAGTAGGT 0.308000 11 41 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70350930 70350930 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:70350930G>A ENST00000305107.6 - 5 1352 c.1306C>T c.(1306-1308)Cct>Tct p.P436S UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P300S|UGT2B4_ENST00000512583.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 436 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACTCACAAAGGATCATTAATT 0.378000 52 66 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23208738 23208738 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:23208738G>A ENST00000300061.2 + 6 1210 c.1067G>A c.(1066-1068)gGa>gAa p.G356E CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 356 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ACCTCTATAGGAATGCACCTG 0.453000 39 7 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135000021 135000021 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:135000021C>T ENST00000304613.3 + 6 1190 c.1169C>T c.(1168-1170)cCc>cTc p.P390L KNDC1_ENST00000368572.2_Missense_Mutation_p.P390L|KNDC1_ENST00000368571.2_Missense_Mutation_p.P325L Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 390 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCTGGGGTGCCCGGCAGTCCA 0.697000 11 10 0 0 1 0 0 OGFOD3 79701 broad.mit.edu 37 17 80373289 80373289 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:80373289G>A ENST00000313056.5 - 2 440 c.289C>T c.(289-291)Cac>Tac p.H97Y OGFOD3_ENST00000329197.5_Missense_Mutation_p.H97Y NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 AACCTGCGGTGACTGTCGTAG 0.587000 82 302 0 0 1 0 0 UBE2Z 65264 broad.mit.edu 37 17 46990249 46990249 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:46990249C>T ENST00000360943.5 + 3 579 c.444C>T c.(442-444)ttC>ttT p.F148F NM_023079.4 NP_075567.2 Q9H832 UBE2Z_HUMAN ubiquitin-conjugating enzyme E2Z 148 apoptosis cytoplasm|nucleus ATP binding|ubiquitin-protein ligase activity GGGGTTTCTTCCTGTTCGTGT 0.488000 153 246 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187942 62187942 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:62187942T>C ENST00000370098.3 + 2 1018 c.926T>C c.(925-927)cTg>cCg p.L309P C20orf195_ENST00000370097.1_Missense_Mutation_p.L309P NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 309 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CCGGAGCCCCTGGAGGGGCCC 0.512000 132 163 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080479 42080479 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:42080479G>A ENST00000400454.1 - 2 739 c.262C>T c.(262-264)Cct>Tct p.P88S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 88 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AAGCTTGAAGGAGGGAAGGGG 0.498000 54 55 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135300379 135300379 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:135300379T>G ENST00000367837.5 - 14 1831 c.1625A>C c.(1624-1626)gAc>gCc p.D542A HBS1L_ENST00000367824.4_Missense_Mutation_p.D378A|HBS1L_ENST00000367826.2_Missense_Mutation_p.D500A|HBS1L_ENST00000527578.1_Missense_Mutation_p.D378A|HBS1L_ENST00000415177.2_Missense_Mutation_p.D477A|HBS1L_ENST00000445176.2_Missense_Mutation_p.D266A NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 542 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) TGCCGCCCAGTCGACAGGTTC 0.428000 26 21 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41064604 41064604 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:41064604C>T ENST00000399564.4 - 5 880 c.430G>A c.(430-432)Gat>Aat p.D144N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATCCTTTCATCCTCGGCCAGC 0.463000 19 41 0 0 1 0 0 HOGA1 112817 broad.mit.edu 37 10 99358907 99358907 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:99358907G>A ENST00000370646.4 + 3 763 c.402G>A c.(400-402)atG>atA p.M134I PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 ACGCGGCCATGGTGGTGACCC 0.612000 45 121 0 0 1 0 0 ZDHHC1 29800 broad.mit.edu 37 16 67432187 67432187 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:67432187G>A ENST00000348579.2 - 8 1196 c.855C>T c.(853-855)caC>caT p.H285H NM_013304.2 NP_037436.1 Q8WTX9 ZDHC1_HUMAN zinc finger, DHHC-type containing 1 285 integral to membrane DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1) 10 Ovarian(137;0.223) UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022) GTGGTGGGCGGTGCTGCACGA 0.622000 76 143 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12865573 12865573 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:12865573C>T ENST00000549706.1 + 4 779 c.455C>T c.(454-456)cCc>cTc p.P152L BEST2_ENST00000042931.1_Missense_Mutation_p.P152L|BEST2_ENST00000553030.1_Missense_Mutation_p.P152L Q8NFU1 BEST2_HUMAN bestrophin 2 152 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 AAGCGCTTCCCCACCATAGAC 0.687000 8 10 0 0 1 0 0 MRPS27 23107 broad.mit.edu 37 5 71528294 71528294 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:71528294G>A ENST00000261413.5 - 7 606 c.567C>T c.(565-567)tgC>tgT p.C189C MRPS27_ENST00000457646.4_Silent_p.C133C|MRPS27_ENST00000513900.1_Silent_p.C203C|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000515404.1_Silent_p.C133C NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 189 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) TCTTTGCCAGGCAATGAAATA 0.418000 24 32 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835468 247835468 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:247835468C>T ENST00000359688.2 - 1 897 c.876G>A c.(874-876)agG>agA p.R292R RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CCTGCATCTCCCTATTCTGGA 0.438000 30 70 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183700571 183700571 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:183700571G>A ENST00000334444.6 - 6 1056 c.816C>T c.(814-816)tcC>tcT p.S272S ABCC5_ENST00000265586.6_Silent_p.S272S|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 272 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCTCACCCAGGGATTTCTCTT 0.488000 11 45 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407577 50407577 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:50407577G>A ENST00000217086.4 - 2 1556 c.1445C>T c.(1444-1446)tCt>tTt p.S482F SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 482 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TAGCCCTACAGAGGTGGTTAC 0.557000 124 155 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26698339 26698339 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:26698339G>A ENST00000272371.2 - 25 3140 c.3014C>T c.(3013-3015)cCc>cTc p.P1005L OTOF_ENST00000339598.3_Missense_Mutation_p.P258L|OTOF_ENST00000402415.3_Missense_Mutation_p.P315L|OTOF_ENST00000403946.3_Missense_Mutation_p.P1005L|OTOF_ENST00000338581.6_Missense_Mutation_p.P258L NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1005 C2 3. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCCAGGTGGGACACAGGGT 0.557000 76 116 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357319 38357319 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:38357319G>A ENST00000379705.3 - 2 1009 c.152C>T c.(151-153)tCc>tTc p.S51F TRPC4_ENST00000358477.2_Missense_Mutation_p.S51F|TRPC4_ENST00000426868.2_Missense_Mutation_p.S51F|TRPC4_ENST00000355779.2_Missense_Mutation_p.S51F|TRPC4_ENST00000379681.3_Missense_Mutation_p.S51F|TRPC4_ENST00000338947.5_Missense_Mutation_p.S51F|TRPC4_ENST00000379673.2_Missense_Mutation_p.S51F|TRPC4_ENST00000379679.1_Missense_Mutation_p.S51F|TRPC4_ENST00000447043.1_Missense_Mutation_p.S51F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 51 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTCCTCTAGGGATTTCTTGAC 0.388000 56 85 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477219 128477219 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:128477219G>A ENST00000322313.4 - 16 2538 c.2380C>T c.(2380-2382)Cag>Tag p.Q794* NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 794 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GCAGGACCCTGGTTCTCCCGG 0.607000 22 36 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56469702 56469702 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:56469702T>C ENST00000370754.5 - 39 9624 c.9625A>G c.(9625-9627)Atc>Gtc p.I3209V DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.I2705V|DST_ENST00000370769.4_Missense_Mutation_p.I3031V|DST_ENST00000312431.6_Missense_Mutation_p.I3031V|DST_ENST00000361203.3_Missense_Mutation_p.I3031V|DST_ENST00000370788.2_Intron Q03001 DYST_HUMAN dystonin 3031 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|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 NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGCTTTGGATCATGTCATTA 0.363000 12 18 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247836116 247836116 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:247836116C>T ENST00000359688.2 - 1 249 c.228G>A c.(226-228)ccG>ccA p.P76P RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CCAGCATCTTCGGTATGATGC 0.458000 14 24 0 0 1 0 0 LDHD 197257 broad.mit.edu 37 16 75147556 75147556 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:75147556C>T ENST00000300051.4 - 8 1078 c.1032G>A c.(1030-1032)gaG>gaA p.E344E LDHD_ENST00000450168.2_Silent_p.E321E NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 344 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 GCTGGACTATCTCCTCTGCAG 0.672000 59 13 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 86115857 86115857 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:86115857C>T ENST00000383699.3 + 10 1766 c.1139C>T c.(1138-1140)cCa>cTa p.P380L CADM2_ENST00000405615.2_Missense_Mutation_p.P413L|CADM2_ENST00000407528.2_Missense_Mutation_p.P411L NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 411 adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAAGATGCACCAGATGCTGAT 0.383000 20 59 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43623415 43623415 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:43623415C>T ENST00000360835.3 - 10 1298 c.1172G>A c.(1171-1173)gGg>gAg p.G391E NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 391 EGF-like 9; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GAGCCGCCTCCCCGGGGGACA 0.662000 32 12 0 0 1 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1979046 1979046 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:1979046G>A ENST00000255641.8 + 6 1131 c.636G>A c.(634-636)ctG>ctA p.L212L NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 212 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACAAGAGCCTGACGGGCACGG 0.687000 28 83 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149129486 149129486 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:149129486G>A ENST00000247930.4 - 6 2200 c.1877C>T c.(1876-1878)tCt>tTt p.S626F NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GCCGCTACCAGAGCTGGGTGA 0.667000 91 205 0 0 1 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113673157 113673157 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:113673157G>A ENST00000330212.3 + 3 1071 c.772G>A c.(772-774)Gag>Aag p.E258K ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E252K NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 258 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 CAAAGCGAAGGAGGACTGGTG 0.582000 27 24 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703593 55703593 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:55703593G>A ENST00000301532.3 - 1 283 c.284C>T c.(283-285)tCc>tTc p.S95F NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CCCATAATAGGAAATAGATTT 0.408000 7 14 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89082392 89082392 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:89082392C>T ENST00000393525.3 + 0 526 GAGAAAGATTCTGTTTCGAAT 0.343000 22 32 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42169418 42169418 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:42169418C>A ENST00000444063.1 + 18 2219 c.2087C>A c.(2086-2088)aCa>aAa p.T696K L3MBTL1_ENST00000427442.2_Missense_Mutation_p.T764K|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.T764K|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.T701K|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.T696K Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 696 SAM. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CAGACCCTGACAGGTTGTGAG 0.552000 31 41 3.78316e-11 3.82831e-11 1 1 0 TTN 7273 broad.mit.edu 37 2 179654825 179654825 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179654825C>T ENST00000589042.1 - 12 2042 c.1818G>A c.(1816-1818)agG>agA p.R606R TTN_ENST00000342175.6_Silent_p.R560R|TTN_ENST00000359218.5_Silent_p.R560R|TTN_ENST00000342992.6_Silent_p.R606R|TTN_ENST00000360870.5_Silent_p.R606R|TTN_ENST00000460472.2_Silent_p.R560R|TTN_ENST00000591111.1_Silent_p.R606R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 606 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACTGTTTTCCTAGTTTCCT 0.313000 21 29 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34022609 34022609 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr21:34022609G>A ENST00000382499.2 - 23 3038 c.3039C>T c.(3037-3039)atC>atT p.I1013I SYNJ1_ENST00000357345.3_Silent_p.I974I|SYNJ1_ENST00000433931.2_Silent_p.I1013I|SYNJ1_ENST00000382491.3_Silent_p.I969I|SYNJ1_ENST00000322229.7_Silent_p.I974I NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 974 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CCAAATTTTTGATCCAGTCTG 0.348000 42 126 0 0 1 0 0 SNRNP40 9410 broad.mit.edu 37 1 31762188 31762188 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:31762188C>T ENST00000263694.4 - 4 462 c.444G>A c.(442-444)aaG>aaA p.K148K SNRNP40_ENST00000446633.2_Silent_p.K148K NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 148 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 AAGTATGTCCCTTTAGCCTTT 0.458000 169 102 0 0 1 0 0 SP5 389058 broad.mit.edu 37 2 171572829 171572829 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:171572829G>A ENST00000375281.3 + 2 274 c.112G>A c.(112-114)Gcc>Acc p.A38T SP5_ENST00000487037.1_3'UTR NM_001003845.2 NP_001003845.1 Q6BEB4 SP5_HUMAN Sp5 transcription factor 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|lung(1)|prostate(1) 5 ATTGCTGGCCGCCACCTGTAG 0.726000 4 111 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10702984 10702984 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:10702984G>A ENST00000377022.3 - 20 4411 c.4094C>T c.(4093-4095)tCc>tTc p.S1365F RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1365 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TGACTCAGAGGACATGGCGCC 0.667000 38 20 0 0 1 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57466668 57466668 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:57466668C>T ENST00000287169.3 + 11 3122 c.1760C>T c.(1759-1761)tCa>tTa p.S587L ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S534L NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 587 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 AGTTCCTCCTCAGATGATTCA 0.612000 110 137 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104160128 104160128 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:104160128G>A ENST00000369966.3 + 16 1928 c.1678G>A c.(1678-1680)Gga>Aga p.G560R NFKB2_ENST00000189444.6_Missense_Mutation_p.G560R|NFKB2_ENST00000428099.1_Missense_Mutation_p.G560R NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 560 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) GGATCGGCATGGAGACTCAGC 0.652000 T IGH@ B-NHL 36 79 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21217200 21217200 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:21217200C>T ENST00000380216.1 - 1 110 c.105G>A c.(103-105)agG>agA p.R35R NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 35 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TCAAGGCCCTCCTATTACCCA 0.507000 66 19 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347291 48347291 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:48347291G>A ENST00000319856.4 + 1 820 c.799G>A c.(799-801)Gcc>Acc p.A267T NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CACCTGTGGAGCCCACTTCAT 0.438000 46 86 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750006 30750006 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:30750006C>T ENST00000262518.4 + 34 9030 c.8645C>T c.(8644-8646)tCa>tTa p.S2882L SRCAP_ENST00000344771.4_Missense_Mutation_p.S2724L|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2820L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2882 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GAGGCACCCTCATCCACCTTG 0.587000 40 5 0 0 1 0 0 HSH2D 84941 broad.mit.edu 37 19 16268289 16268289 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:16268289G>A ENST00000253680.6 + 9 1274 c.743G>A c.(742-744)gGa>gAa p.G248E HSH2D_ENST00000397372.4_Missense_Mutation_p.G158E|HSH2D_ENST00000593154.2_Silent_p.R248R|HSH2D_ENST00000588246.1_Silent_p.R248R Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 248 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 CCTGGGACCGGAAAAGGCAGC 0.597000 46 142 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98257818 98257818 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:98257818C>T ENST00000265634.3 + 5 1338 c.1173C>T c.(1171-1173)atC>atT p.I391I NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 391 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TTGTCAACATCGCCAACTGCT 0.577000 14 18 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170717 113170717 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:113170717G>A ENST00000401783.2 - 38 7499 c.7163C>T c.(7162-7164)tCc>tTc p.S2388F SVEP1_ENST00000374469.1_Missense_Mutation_p.S2365F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S314F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2388 Sushi 17. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GACACCAAAGGAAATTAGGGG 0.458000 23 6 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39826491 39826491 + Missense_Mutation SNP C C T rs138693822 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:39826491C>T ENST00000564288.1 + 48 13048 c.12271C>T c.(12271-12273)Ctc>Ttc p.L4091F MACF1_ENST00000372915.3_Missense_Mutation_p.L4096F|MACF1_ENST00000545844.1_Missense_Mutation_p.L2029F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.L2531F|MACF1_ENST00000567887.1_Missense_Mutation_p.L4128F|MACF1_ENST00000539005.1_Missense_Mutation_p.L2029F|MACF1_ENST00000317713.7_Missense_Mutation_p.L2029F|MACF1_ENST00000361689.2_Missense_Mutation_p.L2029F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4096 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTTCCAAAGCCTCTCCTATAG 0.423000 10 49 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20848605 20848605 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:20848605G>A ENST00000262715.5 - 34 4832 c.4792C>T c.(4792-4794)Ctc>Ttc p.L1598F TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.L1490F NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1598 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GCCTCGGGGAGCTTTTGTTCC 0.572000 48 27 0 0 1 0 0 B4GALT4 8702 broad.mit.edu 37 3 118948832 118948832 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:118948832G>A ENST00000467604.1 - 3 506 c.115C>T c.(115-117)Caa>Taa p.Q39* B4GALT4_ENST00000460321.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Nonsense_Mutation_p.Q39*|B4GALT4_ENST00000483209.1_Nonsense_Mutation_p.Q39*|B4GALT4_ENST00000471675.1_5'UTR|B4GALT4_ENST00000393765.2_Nonsense_Mutation_p.Q39* O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 39 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) GGAATCTCTTGAATGGCACCC 0.453000 54 33 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10360752 10360752 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:10360752G>C ENST00000255381.2 - 16 1992 c.1882C>G c.(1882-1884)Caa>Gaa p.Q628E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 628 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCAGCAGTTTGTGCCCCAGAG 0.443000 3 61 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70546163 70546163 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:70546163G>A ENST00000323786.5 - 5 738 c.717C>T c.(715-717)ttC>ttT p.F239F COG4_ENST00000393612.4_Silent_p.F235F NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 235 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) GGTACTCCGAGAACTTTCTTA 0.517000 45 5 0 0 1 0 0 PEG10 23089 broad.mit.edu 37 7 94293505 94293505 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:94293505C>T ENST00000482108.1 + 2 1116 c.637C>T c.(637-639)Cac>Tac p.H213Y PEG10_ENST00000488574.1_Missense_Mutation_p.H213Y NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 213 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CCTCAGCGACCACATTCAGGA 0.577000 53 154 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861593 55861593 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:55861593G>A ENST00000302124.2 + 1 841 c.810G>A c.(808-810)gcG>gcA p.A270A OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A270A(15) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TGACCCAGGCGCAGGTGGCAT 0.453000 4 73 0 0 1 0 0 GTF2B 2959 broad.mit.edu 37 1 89329732 89329732 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:89329732G>A ENST00000370500.5 - 3 308 c.190C>T c.(190-192)Cca>Tca p.P64S GTF2B_ENST00000494819.1_5'UTR NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 64 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) ACTCGAGATGGATCTTTTGTT 0.398000 27 92 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060904 9060904 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9060904C>T ENST00000397910.4 - 3 26745 c.26542G>A c.(26542-26544)Gaa>Aaa p.E8848K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8850 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTAGTTTTTTCCACTGATGGG 0.512000 78 98 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616437 248616437 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:248616437C>T ENST00000342927.3 + 1 361 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGGGGAATTCTTCCTGCTGG 0.542000 32 142 0 0 1 0 0 CEACAM16 388551 broad.mit.edu 37 19 45211459 45211459 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:45211459C>T ENST00000587331.1 + 6 1482 c.1267_splice c.e6+1 p.P423_splice CEACAM16_ENST00000405314.2_Splice_Site_p.P423_splice|CTB-171A8.1_ENST00000590796.1_RNA NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 423 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) GCAGGTGGCCCGTGAGTGTGT 0.582000 5 12 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205899048 205899048 + Missense_Mutation SNP G G C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:205899048G>C ENST00000367135.3 - 6 802 c.689C>G c.(688-690)tCc>tGc p.S230C SLC26A9_ENST00000340781.4_Missense_Mutation_p.S230C|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S230C NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 230 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GCCTGTGTAGGAGGGGATGGT 0.567000 47 55 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145770925 145770925 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:145770925G>A ENST00000276826.5 - 5 2430 c.2229C>T c.(2227-2229)gcC>gcT p.A743A ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Silent_p.A743A|ARHGAP39_ENST00000540274.1_Silent_p.A743A Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 743 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 AGAGCTCGCAGGCCTCCTTCT 0.637000 24 60 0 0 1 0 0 PSMD1 5707 broad.mit.edu 37 2 232010954 232010954 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:232010954G>A ENST00000308696.6 + 18 2161 c.1998_splice c.e18-1 p.E667_splice PSMD1_ENST00000409643.1_Splice_Site_p.E667_splice|PSMD1_ENST00000373635.4_Splice_Site_p.E667_splice NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 667 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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) ATTCTTTCAGGAAGCCATTAA 0.398000 23 32 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414446 105414446 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:105414446T>C ENST00000333244.5 - 7 7461 c.7342A>G c.(7342-7344)Agc>Ggc p.S2448G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2448 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACCTCCACGCTGGGCTGAGAC 0.632000 12 244 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651051 96651051 + Missense_Mutation SNP G G A rs146406553 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:96651051G>A ENST00000302103.5 + 3 346 c.20G>A c.(19-21)gGa>gAa p.G7E NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 7 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.G7E(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ACATCCAAAGGAATTCTTCGC 0.388000 56 55 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7295772 7295772 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:7295772C>T ENST00000537408.1 + 11 2286 c.1748C>T c.(1747-1749)cCc>cTc p.P583L CLSTN3_ENST00000266546.6_Missense_Mutation_p.P571L Q9BQT9 CSTN3_HUMAN calsyntenin 3 571 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CACGTGAACCCCTCACAGTCC 0.617000 102 146 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51255178 51255178 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:51255178G>A ENST00000404971.1 - 2 1573 c.234C>T c.(232-234)ttC>ttT p.F78F NRXN1_ENST00000406859.3_Silent_p.F78F|NRXN1_ENST00000402717.3_Silent_p.F78F|NRXN1_ENST00000405472.3_Silent_p.F78F|NRXN1_ENST00000405581.1_Silent_p.F78F|NRXN1_ENST00000406316.2_Silent_p.F78F|NRXN1_ENST00000401669.2_Silent_p.F78F NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 78 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCAGCTCCAGGAAGTCGCAGA 0.652000 15 18 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112687117 112687117 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:112687117G>A ENST00000295408.4 + 2 739 c.482_splice c.e2+1 p.S161_splice MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Splice_Site_p.S161_splice Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 161 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GCTTCCTTCAGGTATGTGttc 0.343000 44 49 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103266681 103266681 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:103266681G>A ENST00000520539.1 - 59 8855 c.8249C>T c.(8248-8250)cCc>cTc p.P2750L UBR5_ENST00000521922.1_Missense_Mutation_p.P2743L|UBR5_ENST00000518205.1_Missense_Mutation_p.P478L|UBR5_ENST00000220959.4_Missense_Mutation_p.P2749L NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2750 HECT.|Pro-rich. 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 NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 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) TGTGATTGAGGGCATAGGCTG 0.413000 54 44 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86659237 86659237 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:86659237G>A ENST00000456692.2 + 11 1110 c.995G>A c.(994-996)aGc>aAc p.S332N RASA1_ENST00000506290.1_Missense_Mutation_p.S343N|RASA1_ENST00000512763.1_Missense_Mutation_p.S342N|RASA1_ENST00000274376.6_Missense_Mutation_p.S509N NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 509 SH3. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TATTTTGAAAGCGAAAAACGA 0.333000 25 31 0 0 1 0 0 CNPY1 285888 broad.mit.edu 37 7 155301711 155301711 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:155301711C>T ENST00000321736.5 - 2 184 c.22G>A c.(22-24)Gaa>Aaa p.E8K CNPY1_ENST00000406197.1_Missense_Mutation_p.E8K NM_001103176.1 NP_001096646.1 Q3B7I2 CNPY1_HUMAN canopy FGF signaling regulator 1 8 breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) ACAGGGTCTTCCTCAAGCTTG 0.428000 51 46 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23270363 23270363 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:23270363C>T ENST00000298032.5 + 9 1095 c.1011C>T c.(1009-1011)tcC>tcT p.S337S ARMC3_ENST00000409049.3_Silent_p.S337S|ARMC3_ENST00000376528.4_Silent_p.S74S|ARMC3_ENST00000409983.3_Silent_p.S337S NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 337 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTGCTGCTTCCCAAGCTATTT 0.353000 24 12 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198949641 198949641 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:198949641C>T ENST00000428675.1 + 2 1798 c.1400C>T c.(1399-1401)tCc>tTc p.S467F PLCL1_ENST00000437704.2_Missense_Mutation_p.S369F NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 467 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) ACCCATGTTTCCTTTCGAAGT 0.408000 8 30 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43414809 43414809 + Missense_Mutation SNP A A G rs140437421 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:43414809A>G ENST00000187910.2 - 3 694 c.629T>C c.(628-630)aTt>aCt p.I210T PSG6_ENST00000402603.4_Missense_Mutation_p.I210T|PSG6_ENST00000292125.2_Missense_Mutation_p.I210T NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GGGTCCTGCAATATACTTTGT 0.493000 59 318 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24475372 24475372 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:24475372C>T ENST00000230036.1 - 5 528 c.418G>A c.(418-420)Gga>Aga p.G140R GPLD1_ENST00000474784.1_5'UTR NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 140 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTAAGGAATCCTTGTTCAAGG 0.463000 75 109 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031129 33031129 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:33031129T>A ENST00000340811.4 - 3 793 c.685A>T c.(685-687)Acc>Tcc p.T229S PKP2_ENST00000070846.6_Missense_Mutation_p.T229S NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 229 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TCAAAAACGGTGTCGCTAACA 0.602000 29 82 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615354 179615354 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:179615354C>T ENST00000360870.5 - 46 11995 c.11773G>A c.(11773-11775)Gaa>Aaa p.E3925K TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9745 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTTTTCTTCCTTCTGTTCG 0.338000 8 14 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3241730 3241730 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:3241730C>T ENST00000355072.5 + 67 9518 c.9373C>T c.(9373-9375)Cca>Tca p.P3125S NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 3125 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCCAGGAAGCCCATATCACCG 0.607000 8 18 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808333 8808333 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:8808333C>T ENST00000324436.3 - 1 839 c.719G>A c.(718-720)gGc>gAc p.G240D NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 240 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CAGGGGCAGGCCGGCCTGGAG 0.657000 62 73 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777825 110777825 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:110777825C>T ENST00000368919.3 - 2 515 c.449G>A c.(448-450)cGa>cAa p.R150Q SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.R150Q|SLC22A16_ENST00000456137.2_Missense_Mutation_p.R150Q|SLC22A16_ENST00000330550.4_Missense_Mutation_p.R116Q NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 150 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) AAGCCATTTTCGGTCACAGAC 0.448000 20 32 0 0 1 0 0 EXOC6B 23233 broad.mit.edu 37 2 72406574 72406574 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:72406574G>A ENST00000272427.6 - 22 2456 c.2326C>T c.(2326-2328)Cgc>Tgc p.R776C EXOC6B_ENST00000490919.1_5'UTR NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 776 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TTGTTCTTGCGGCTAGTATCC 0.483000 46 52 0 0 1 0 0 CHKA 1119 broad.mit.edu 37 11 67829480 67829480 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:67829480G>A ENST00000265689.4 - 11 1280 c.1254C>T c.(1252-1254)ttC>ttT p.F418F CHKA_ENST00000356135.5_Silent_p.F400F NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 418 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) GTCCCCAGAGGAAATGAGATG 0.368000 9 11 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809918 5809918 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:5809918C>T ENST00000317078.1 - 1 128 c.129G>A c.(127-129)ggG>ggA p.G43G TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G43G(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GGCCGAAGTTCCCTGTAATAG 0.463000 23 33 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28519529 28519529 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:28519529G>A ENST00000261609.7 - 7 816 c.708C>T c.(706-708)ccC>ccT p.P236P NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 236 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCGAGGCCTCGGGAAGTGCTC 0.657000 24 31 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116941601 116941601 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:116941601C>T ENST00000537345.1 + 17 2706 c.2343C>T c.(2341-2343)acC>acT p.T781T ATP1A1_ENST00000369496.4_Silent_p.T750T|ATP1A1_ENST00000295598.5_Silent_p.T781T NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 781 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) ATACCTTAACCAGTAACATTC 0.413000 39 128 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100391745 100391745 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:100391745G>A ENST00000542585.1 + 0 8200 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTTCTAGCTGGGCAGCAGCTT 0.642000 26 19 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874293 24874293 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:24874293G>A ENST00000396432.2 - 26 5411 c.4925C>T c.(4924-4926)cCc>cTc p.P1642L NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1641 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GGGGAACACGGGAAACTCGCT 0.532000 37 43 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142605181 142605181 + Silent SNP C C T rs148202641 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:142605181C>T ENST00000370503.2 - 1 122 c.39G>A c.(37-39)acG>acA p.T13T NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 13 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGCTCTTCGTCTTCTCCC 0.458000 91 11 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27308664 27308664 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:27308664C>T ENST00000317338.12 - 2 877 c.449G>A c.(448-450)cGa>cAa p.R150Q SEZ6_ENST00000360295.9_Missense_Mutation_p.R150Q|SEZ6_ENST00000442608.3_Missense_Mutation_p.R150Q|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.R150Q Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 150 Pro-rich. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) AGCTGTGATTCGAAGCATAGG 0.642000 22 8 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20403926 20403926 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:20403926T>A ENST00000285600.4 + 1 160 c.101T>A c.(100-102)gTc>gAc p.V34D NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTCTCTATAGTCTATGTGACA 0.373000 78 59 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74319583 74319583 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:74319583G>A ENST00000395792.2 + 13 1854 c.1754G>A c.(1753-1755)gGc>gAc p.G585D AFP_ENST00000226359.2_Missense_Mutation_p.G585D|AFP_ENST00000506820.1_3'UTR NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 585 Albumin 3. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGCTGCCAAGGCCAGGAACAG 0.418000 Alpha-Fetoprotein, Hereditary Persistence of 19 44 0 0 1 0 0 LOC101927958 101927958 broad.mit.edu 37 2 239140630 239140630 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:239140630G>A ENST00000456601.1 + 0 306 CCAGTTTCCAGGGGCGTGTGG 0.542000 17 29 0 0 1 0 0 SPO11 23626 broad.mit.edu 37 20 55913399 55913399 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:55913399C>T ENST00000371263.3 + 9 921 c.812C>T c.(811-813)cCt>cTt p.P271L SPO11_ENST00000371260.4_Missense_Mutation_p.P229L|SPO11_ENST00000345868.4_Missense_Mutation_p.P233L NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 271 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) TTTCATGTTCCTGTTTTCACT 0.323000 Editing and processing nucleases 32 38 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38031532 38031532 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:38031532T>A ENST00000377940.3 + 6 807 c.668T>A c.(667-669)tTt>tAt p.F223Y ZPBP2_ENST00000348931.4_Missense_Mutation_p.F245Y|ZPBP2_ENST00000584588.1_Missense_Mutation_p.F172Y NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 245 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) GAAGACTTTTTTCGGAGCCAA 0.373000 29 26 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6031493 6031493 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:6031493C>T ENST00000409021.3 - 20 2844 c.2395G>A c.(2395-2397)Gag>Aag p.E799K JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E614K NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 570 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGTTTGTCCTCCAGTTCTCGG 0.418000 6 6 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36179185 36179185 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:36179185C>T ENST00000357641.6 + 7 2583 c.2330C>T c.(2329-2331)gCc>gTc p.A777V BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.A777V NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 777 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GAGATCAATGCCCTTCGGCAG 0.642000 16 19 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8494734 8494734 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:8494734C>T ENST00000447869.1 - 2 1233 c.315G>A c.(313-315)agG>agA p.R105R STK33_ENST00000315204.1_Silent_p.R105R|STK33_ENST00000396673.1_Silent_p.R105R|STK33_ENST00000396672.1_Silent_p.R105R|STK33_ENST00000534493.1_Silent_p.R64R|STK33_ENST00000358872.3_Intron Q9BYT3 STK33_HUMAN serine/threonine kinase 33 105 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CATTCTCAATCCTTATGTGAG 0.403000 51 84 0 0 1 0 0 ADAT1 23536 broad.mit.edu 37 16 75651152 75651152 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:75651152G>A ENST00000307921.3 - 6 457 c.312C>T c.(310-312)ctC>ctT p.L104L NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 104 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 CTGCCAACTGGAGTTGGTGGA 0.458000 113 17 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156883768 156883768 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:156883768G>A ENST00000338302.3 + 23 3063 c.2838G>A c.(2836-2838)atG>atA p.M946I PEAR1_ENST00000292357.7_Missense_Mutation_p.M946I Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 946 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACATGGAGATGAAAGGCCCTC 0.657000 23 26 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35740805 35740805 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:35740805C>T ENST00000400441.3 - 21 2735 c.2736G>A c.(2734-2736)tgG>tgA p.W912* MROH8_ENST00000441008.2_Nonsense_Mutation_p.W898*|MROH8_ENST00000217333.8_Nonsense_Mutation_p.W741* maestro heat-like repeat family member 8 GGGGCAGCTTCCACTTCAGGA 0.413000 36 28 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063559 9063559 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9063559G>A ENST00000397910.4 - 3 24090 c.23887C>T c.(23887-23889)Ccc>Tcc p.P7963S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7965 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCAGAAGGGGAGGGCTCATC 0.453000 23 23 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9580154 9580154 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:9580154C>T ENST00000285199.6 + 5 1021 c.925C>T c.(925-927)Ctg>Ttg p.L309L USP43_ENST00000570827.2_5'UTR|USP43_ENST00000575346.1_3'UTR|USP43_ENST00000570475.1_Silent_p.L309L NM_153210.4 NP_694942.3 Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 309 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 AGTGGCAGCCCTGAGGAAGAT 0.562000 34 18 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363813 22363813 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:22363813G>A ENST00000397121.2 - 3 1023 c.706C>T c.(706-708)Cga>Tga p.R236* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTGAGGATCGATTAAAAGCT 0.363000 18 107 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130106988 130106988 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:130106988C>T ENST00000525842.1 - 5 1635 c.1267_splice c.e5-1 p.G423_splice ZBTB44_ENST00000530205.1_Splice_Site_p.G423_splice|ZBTB44_ENST00000357899.4_Splice_Site_p.G423_splice|ZBTB44_ENST00000397753.1_Splice_Site_p.G423_splice NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TGGTTTAATTCCTGTAAATAA 0.363000 40 55 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103467999 103467999 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:103467999C>T ENST00000358392.2 - 23 2435 c.2118G>A c.(2116-2118)ggG>ggA p.G706G COL11A1_ENST00000512756.1_Silent_p.G578G|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Silent_p.G655G|COL11A1_ENST00000370096.3_Silent_p.G694G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 694 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTCCTGGATTCCCTTGTTGAC 0.423000 5 11 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136570124 136570124 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:136570124C>T ENST00000264162.2 - 7 2120 c.2110G>A c.(2110-2112)Gat>Aat p.D704N NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 704 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCAATGGTATCATAGCTAGGG 0.552000 66 71 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62949984 62949984 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:62949984C>T ENST00000561311.1 + 8 905 c.675C>T c.(673-675)atC>atT p.I225I TLN2_ENST00000306829.6_Silent_p.I225I Q9Y4G6 TLN2_HUMAN talin 2 225 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GGGATGACATCCTGAATGGCT 0.498000 47 72 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57522870 57522870 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:57522870C>T ENST00000420713.1 + 3 370 c.258C>T c.(256-258)caC>caT p.H86H NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TAGCCAAACACCCAGGTAGGT 0.443000 37 33 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102668786 102668786 + Nonsense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:102668786C>T ENST00000315274.6 - 1 105 c.38G>A c.(37-39)tGg>tAg p.W13* WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 13 blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CACCACACCCCAGAACAGCAG 0.498000 23 35 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74684209 74684209 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:74684209G>A ENST00000334011.5 + 7 1392 c.1174G>A c.(1174-1176)Gag>Aag p.E392K NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 392 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) ATTCACTCTGGAGATCTTCAA 0.512000 30 78 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124335307 124335307 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:124335307C>T ENST00000287394.5 - 27 4110 c.e27-1 ATAD2_ENST00000521903.1_Splice_Site NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCAAAAGATTCTAAAAGAAAA 0.333000 5 12 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172628356 172628356 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:172628356C>T ENST00000367721.2 + 1 199 c.15C>T c.(13-15)ttC>ttT p.F5F FASLG_ENST00000340030.3_Silent_p.F5F NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 5 Pro-rich. activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 AGCAGCCCTTCAATTACCCAT 0.582000 43 59 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927366 43927366 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:43927366C>T ENST00000282406.4 + 8 1379 c.1269C>T c.(1267-1269)ctC>ctT p.L423L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 423 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTAACTCACTCTCTGGAAAAG 0.443000 65 123 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20370222 20370222 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:20370222C>T ENST00000593655.1 - 0 199 TGTGACTGTTCGATAAACTCC 0.413000 34 42 0 0 1 0 0 PHF12 57649 broad.mit.edu 37 17 27233234 27233234 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:27233234C>T ENST00000332830.4 - 15 3792 c.2982G>A c.(2980-2982)caG>caA p.Q994Q PHF12_ENST00000577226.1_3'UTR NM_001033561.1 NP_001028733.1 Q96QT6 PHF12_HUMAN PHD finger protein 12 994 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) GCACAGGGCCCTGGTGGGGCT 0.587000 24 49 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49388759 49388759 + Missense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:49388759G>T ENST00000221399.3 - 9 1151 c.1007C>A c.(1006-1008)tCc>tAc p.S336Y NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 336 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) AGGATCCAGGGAGATGAGGTA 0.517000 103 133 6.53543e-73 6.76209e-73 1 1 0 ZDBF2 57683 broad.mit.edu 37 2 207173679 207173679 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:207173679C>G ENST00000374423.3 + 5 4813 c.4427C>G c.(4426-4428)gCa>gGa p.A1476G NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1476 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TACAAAGAGGCAGACCTTCAG 0.373000 4 7 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21785991 21785991 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:21785991G>A ENST00000206660.6 + 10 1288 c.1288G>A c.(1288-1290)Gag>Aag p.E430K RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E403K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E430K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E72K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E403K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 430 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGTTTTACTTGAGCTGTCCAG 0.502000 7 16 0 0 1 0 0 ARMC6 93436 broad.mit.edu 37 19 19165058 19165058 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:19165058G>A ENST00000535612.1 + 6 1383 c.951G>A c.(949-951)ggG>ggA p.G317G ARMC6_ENST00000392336.3_Silent_p.G317G|ARMC6_ENST00000392335.2_Silent_p.G292G|ARMC6_ENST00000269932.6_Silent_p.G292G|ARMC6_ENST00000546344.1_Silent_p.G224G NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 317 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) TCGACCTCGGGGGCCTGAGCA 0.622000 OREG0025376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 154 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196397274 196397274 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:196397274C>T ENST00000367433.5 - 10 1046 c.945G>A c.(943-945)atG>atA p.M315I KCNT2_ENST00000294725.8_Missense_Mutation_p.M315I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.M315I|KCNT2_ENST00000451324.2_Intron Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 315 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTAAAAAATCCATAAGTAAAT 0.378000 8 29 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52052520 52052520 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:52052520G>A ENST00000340057.1 + 2 192 c.147G>A c.(145-147)ctG>ctA p.L49L NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 49 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) TGGTCAACCTGAACATCCATA 0.493000 60 84 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33466067 33466067 + Splice_Site SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:33466067A>G ENST00000379471.2 - 18 2452 c.e18+1 NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Splice_Site Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CACCAGCCTAACCTTAAGGAC 0.622000 55 9 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85612913 85612913 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:85612913G>A ENST00000322366.6 - 59 9431 c.9024C>T c.(9022-9024)atC>atT p.I3008I WDFY3_ENST00000295888.4_Silent_p.I3025I Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3025 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTGTACATACGATTTGTCCTA 0.373000 14 30 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 420825 420825 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:420825G>A ENST00000332826.6 - 18 1610 c.1526C>T c.(1525-1527)tCc>tTc p.S509F NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 509 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CCCGGACTCGGAGGCCCGCAG 0.711000 11 21 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32014232 32014232 + Splice_Site SNP A A T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:32014232A>T ENST00000375244.3 - 31 10527 c.10324_splice c.e31-1 p.A3442_splice TNXB_ENST00000375247.2_Splice_Site_p.A3440_splice P22105 TENX_HUMAN tenascin XB 3487 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTCCAGGGGAGCTGTGCAGA 0.637000 20 22 0 0 1 0 0 GPR26 2849 broad.mit.edu 37 10 125434442 125434442 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:125434442C>T ENST00000284674.1 + 2 830 c.777C>T c.(775-777)atC>atT p.I259I NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 259 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) CCTATGTGATCACCAGGTGAG 0.567000 17 11 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83991323 83991323 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:83991323C>T ENST00000343939.2 + 3 679 c.296C>T c.(295-297)cCc>cTc p.P99L OSGIN1_ENST00000565123.1_Missense_Mutation_p.P16L|OSGIN1_ENST00000361711.3_Missense_Mutation_p.P16L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.P16L Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 99 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 AGCTCAGAGCCCCTCCCGGTC 0.692000 18 2 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38348031 38348031 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:38348031G>A ENST00000273173.4 + 1 605 c.514G>A c.(514-516)Gag>Aag p.E172K SLC22A14_ENST00000448498.1_Missense_Mutation_p.E172K NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 172 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GCTGATCAATGAGGTATGTCT 0.498000 36 158 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172831 5172831 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:5172831G>A ENST00000380367.1 - 2 1186 c.769C>T c.(769-771)Ctt>Ttt p.L257F OR52A1_ENST00000328942.1_Missense_Mutation_p.L257F Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 257 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGAAGGCAAGGAGGTAGAAC 0.428000 28 71 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65686869 65686869 + Nonsense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:65686869G>A ENST00000352385.2 - 9 1803 c.1594C>T c.(1594-1596)Cag>Tag p.Q532* NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 532 Fibronectin type-III 2. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 AGGGAGAGCTGGGGTGCTGCA 0.622000 68 86 0 0 1 0 0 AGXT 189 broad.mit.edu 37 2 241813462 241813462 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:241813462C>T ENST00000307503.3 + 6 1050 c.663C>T c.(661-663)tcC>tcT p.S221S NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 221 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CGCTCATCTCCTTCAGTGACA 0.652000 74 81 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835110 27835110 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:27835110C>T ENST00000331442.3 - 1 249 c.198G>A c.(196-198)aaG>aaA p.K66K NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 66 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CTAAGGCCTTCTTAAGGGCTG 0.587000 93 146 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3240668 3240668 + Silent SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:3240668T>C ENST00000252032.9 - 32 2947 c.2880A>G c.(2878-2880)gaA>gaG p.E960E C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 960 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TCAATTTACCTTCATACCTTA 0.498000 21 61 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135764126 135764126 + Splice_Site SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:135764126C>T ENST00000250617.6 - 14 2686 c.1479_splice c.e14-1 p.G494_splice ARHGEF6_ENST00000370622.1_Splice_Site_p.G340_splice|ARHGEF6_ENST00000370620.1_Splice_Site_p.G340_splice|ARHGEF6_ENST00000535227.1_Splice_Site_p.G367_splice NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 494 PH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TGGTATTTTTCCCTATTAGAA 0.358000 22 28 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142487553 142487553 + RNA SNP A A G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:142487553A>G ENST00000430863.1 - 0 1475 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GCGTGCACAGAGTGTCCTGGG 0.672000 15 76 0 0 1 0 0 GALNT12 79695 broad.mit.edu 37 9 101594224 101594224 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:101594224C>T ENST00000375011.3 + 4 902 c.902C>T c.(901-903)cCc>cTc p.P301L NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 301 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) ATGCAATCCCCCGTCGATGTC 0.582000 26 4 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103309516 103309516 + Missense_Mutation SNP T T A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:103309516T>A ENST00000376052.3 + 25 3118 c.3102T>A c.(3100-3102)ttT>ttA p.F1034L TPP2_ENST00000376065.4_Missense_Mutation_p.F1021L|TPP2_ENST00000466153.1_3'UTR P29144 TPP2_HUMAN tripeptidyl peptidase II 1021 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAGAAGAGTTTACTGAAGCAT 0.289000 29 47 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351246 36351246 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:36351246G>A ENST00000360202.5 + 6 919 c.721G>A c.(721-723)Gga>Aga p.G241R KIRREL2_ENST00000586102.2_Missense_Mutation_p.G221R|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G241R|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G191R|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G241R|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 241 Ig-like C2-type 3. cell adhesion integral to membrane|plasma membrane p.G241R(1) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGTGCAGGAGGGAGAGAAGGT 0.607000 51 89 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128819638 128819638 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:128819638T>C ENST00000270861.5 + 16 3129 c.2855T>C c.(2854-2856)tTa>tCa p.L952S PLK4_ENST00000513090.1_Missense_Mutation_p.L920S|PLK4_ENST00000507249.1_Missense_Mutation_p.L891S|PLK4_ENST00000514379.1_Missense_Mutation_p.L911S|PLK4_ENST00000515069.1_Missense_Mutation_p.L874S NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 952 POLO box. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 AAACAGAAATTACAGTGTCTG 0.294000 3 130 0 0 1 0 0 EI24 9538 broad.mit.edu 37 11 125448076 125448076 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:125448076C>T ENST00000278903.6 + 6 606 c.364C>T c.(364-366)Ctc>Ttc p.L122F EI24_ENST00000343678.4_Missense_Mutation_p.L122F|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 122 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) GGAATTCTTCCTCACGTCAAT 0.458000 80 88 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616440 248616440 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:248616440C>T ENST00000342927.3 + 1 364 c.342C>T c.(340-342)ttC>ttT p.F114F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGAATTCTTCCTGCTGGGTC 0.542000 33 134 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102839334 102839334 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:102839334C>T ENST00000504592.1 + 11 1567 c.1149C>T c.(1147-1149)ttC>ttT p.F383F BANK1_ENST00000508653.1_Silent_p.F265F|BANK1_ENST00000428908.1_Silent_p.F265F|BANK1_ENST00000322953.4_Silent_p.F398F|BANK1_ENST00000444316.2_Silent_p.F368F Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 398 A -> T (influences susceptibility to SLE; dbSNP:rs3733197). B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGAAAATCTTCGAAGACTTTT 0.353000 17 17 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90170219 90170219 + Nonsense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:90170219G>T ENST00000268138.7 + 22 5740 c.5635G>T c.(5635-5637)Gaa>Taa p.E1879* TICRR_ENST00000560985.1_Nonsense_Mutation_p.E1878*|KIF7_ENST00000558928.1_Intron TOPBP1-interacting checkpoint and replication regulator CTCCACTGTAGAAGACTCTCC 0.493000 227 256 1.01307e-103 1.05023e-103 1 1 0 NLRP12 91662 broad.mit.edu 37 19 54314540 54314540 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:54314540G>A ENST00000324134.6 - 3 541 c.373C>T c.(373-375)Ccc>Tcc p.P125S NLRP12_ENST00000391775.3_Missense_Mutation_p.P125S|NLRP12_ENST00000354278.3_Missense_Mutation_p.P125S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P125S|NLRP12_ENST00000351894.4_Missense_Mutation_p.P125S|NLRP12_ENST00000345770.5_Missense_Mutation_p.P125S|NLRP12_ENST00000391772.1_Missense_Mutation_p.P125S|NLRP12_ENST00000535162.1_Missense_Mutation_p.P125S NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 125 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GTTTCCTGGGGATCTAGGGGA 0.532000 103 133 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104648 5104648 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:5104648C>T ENST00000396912.1 + 5 2080 c.1561C>T c.(1561-1563)Ctt>Ttt p.L521F RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.L521F NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 521 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GAAAACCTTCCTTGTAAATTC 0.393000 55 39 0 0 1 0 0 OR56B1 387748 broad.mit.edu 37 11 5757934 5757934 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:5757934C>T ENST00000317121.3 + 1 254 c.188C>T c.(187-189)tCt>tTt p.S63F TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CAGAACCCTTCTTTACAGCAG 0.498000 23 35 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245848919 245848919 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:245848919G>A ENST00000366518.4 + 9 1595 c.1491G>A c.(1489-1491)aaG>aaA p.K497K KIF26B_ENST00000407071.2_Silent_p.K878K Q2KJY2 KI26B_HUMAN kinesin family member 26B 878 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TCTCTGACAAGGAGCTCACCG 0.667000 25 26 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50211675 50211675 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:50211675G>A ENST00000002829.3 + 5 832 c.348G>A c.(346-348)ggG>ggA p.G116G SEMA3F_ENST00000413852.1_Silent_p.G48G|SEMA3F_ENST00000434342.1_Silent_p.G116G NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 116 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GCGAGTGTGGGAACTTCGTCA 0.637000 61 77 0 0 1 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55607648 55607648 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:55607648G>A ENST00000263433.3 - 7 1022 c.1007C>T c.(1006-1008)tCt>tTt p.S336F PPP1R12C_ENST00000435544.2_Missense_Mutation_p.S262F|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.S336F NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 336 cytoplasm p.S336Y(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TTTGCTGCTAGAGGGCGCTTG 0.652000 139 189 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137803747 137803747 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:137803747C>T ENST00000239938.4 + 2 1881 c.1609C>T c.(1609-1611)Ccc>Tcc p.P537S NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 537 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AACCTTTTCTCCCAGGACAAT 0.512000 80 14 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116631714 116631714 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:116631714G>A ENST00000395715.3 - 3 1188 c.611C>T c.(610-612)tCa>tTa p.S204L TRPS1_ENST00000520276.1_Missense_Mutation_p.S195L|TRPS1_ENST00000519076.1_Missense_Mutation_p.S145L|TRPS1_ENST00000519674.1_Missense_Mutation_p.S191L|TRPS1_ENST00000220888.5_Missense_Mutation_p.S191L NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 191 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACCCCCATCTGAAGGCACTTG 0.488000 Langer-Giedion syndrome 24 80 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20819536 20819536 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:20819536G>A ENST00000328879.4 - 4 877 c.721C>T c.(721-723)Ctt>Ttt p.L241F KLHL22_ENST00000440659.2_Missense_Mutation_p.L98F NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 241 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) ACTGTCTCAAGGAGCTTTGGG 0.612000 22 34 0 0 1 0 0 ZNF704 619279 broad.mit.edu 37 8 81582746 81582746 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:81582746G>A ENST00000327835.3 - 5 882 c.651C>T c.(649-651)atC>atT p.I217I ZNF704_ENST00000520336.1_5'UTR NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 217 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) ACCCCAGATGGATGGTTCGGA 0.512000 82 61 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154185346 154185346 + Silent SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:154185346C>G ENST00000360256.4 - 11 1838 c.1638G>C c.(1636-1638)cgG>cgC p.R546R NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 546 F5/8 type A 2.|Plastocyanin-like 3. R -> W (in HEMA; mild; dbSNP:rs28937277). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGGTCAGGCACCGAGGATCTG 0.413000 98 12 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046488 17046488 + RNA SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:17046488G>A ENST00000492551.1 - 0 164 NR_026567.1 GAAGCCTCAGGGAGGGGAAGT 0.617000 20 97 0 0 1 0 0 DCAF4 26094 broad.mit.edu 37 14 73406971 73406971 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:73406971C>T ENST00000555042.1 + 4 302 c.237C>T c.(235-237)ttC>ttT p.F79F DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000358377.2_Silent_p.F79F|DCAF4_ENST00000509153.1_Silent_p.F79F|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000353777.3_Silent_p.F79F|DCAF4_ENST00000553457.1_5'UTR NM_001163508.1 NP_001156980.1 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 79 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 AACGCTACTTCCGCTTGCTCC 0.483000 101 71 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9043098 9043098 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:9043098C>T ENST00000382496.5 - 23 3801 c.3136G>A c.(3136-3138)Gaa>Aaa p.E1046K CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1046 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TTGTTTCTTTCCTCTAGGATC 0.318000 20 16 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33745679 33745679 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:33745679C>T ENST00000403687.3 + 6 1036 c.296C>T c.(295-297)aCt>aTt p.T99I RASGRP3_ENST00000402538.3_Missense_Mutation_p.T99I|RASGRP3_ENST00000407811.1_Missense_Mutation_p.T99I NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 99 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) ATTCGTATGACTGAGGAATTT 0.423000 117 141 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138373853 138373853 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:138373853G>A ENST00000409968.1 + 18 3710 c.3532G>A c.(3532-3534)Gaa>Aaa p.E1178K THSD7B_ENST00000272643.3_Missense_Mutation_p.E1181K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1150K|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTCCTGAATGAAAATTGCTT 0.453000 74 108 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785286 12785286 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:12785286G>A ENST00000332530.3 + 3 392 c.166G>A c.(166-168)Gat>Aat p.D56N AADACL3_ENST00000359318.5_Missense_Mutation_p.D126N NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 126 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATATGGAGTGGATCCAGCCCG 0.547000 28 100 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1371150 1371150 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:1371150G>A ENST00000359786.5 - 29 3275 c.2951C>T c.(2950-2952)gCg>gTg p.A984V MYO1C_ENST00000438665.2_Missense_Mutation_p.A965V|MYO1C_ENST00000361007.2_Missense_Mutation_p.A949V|MYO1C_ENST00000575158.1_Missense_Mutation_p.A949V|MYO1C_ENST00000545534.2_Missense_Mutation_p.A960V NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 984 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTTATTGTCCGCACGCTGTAC 0.582000 3 67 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11606375 11606375 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:11606375G>A ENST00000273038.3 - 4 738 c.373C>T c.(373-375)Ccc>Tcc p.P125S VGLL4_ENST00000424529.2_Missense_Mutation_p.P41S|VGLL4_ENST00000430365.2_Missense_Mutation_p.P131S|VGLL4_ENST00000413604.1_Missense_Mutation_p.P66S|VGLL4_ENST00000451674.2_Missense_Mutation_p.P45S|VGLL4_ENST00000404339.1_Missense_Mutation_p.P130S NM_014667.2 NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) CCAAGGCTGGGGAGGGAGGTG 0.721000 38 47 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23826539 23826539 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:23826539C>T ENST00000354639.3 + 20 2878 c.2414C>T c.(2413-2415)tCa>tTa p.S805L STK31_ENST00000433467.2_Missense_Mutation_p.S828L|STK31_ENST00000428484.1_Missense_Mutation_p.S805L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.S828L NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 828 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCTTTAAATTCAGAAGTAAGT 0.353000 39 46 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215674232 215674232 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:215674232C>A ENST00000260947.4 - 1 196 c.62G>T c.(61-63)cGt>cTt p.R21L BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 21 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGGCGCGGAACGAGGCTCGTT 0.692000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 14 12 0.000308642 0.000310182 1 1 0 GPR87 53836 broad.mit.edu 37 3 151012161 151012161 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:151012161G>A ENST00000260843.4 - 3 1337 c.873C>T c.(871-873)atC>atT p.I291I MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 291 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGTAATATAGGATTTTTTGTG 0.348000 25 53 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206230980 206230980 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:206230980C>T ENST00000367126.4 + 2 1578 c.1113C>T c.(1111-1113)agC>agT p.S371S NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 371 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CCGACGGCAGCCTCTCGAGCC 0.701000 5 3 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62021184 62021184 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:62021184C>T ENST00000435607.1 - 22 4015 c.3939G>A c.(3937-3939)acG>acA p.T1313T SCN4A_ENST00000578147.1_Silent_p.T1313T NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1313 T -> M (in PMC). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCTGTTCCTCCGTCATAAAGA 0.552000 20 53 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75548578 75548578 + Missense_Mutation SNP T T C TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:75548578T>C ENST00000604729.1 + 2 656 c.359T>C c.(358-360)aTt>aCt p.I120T ZSWIM8_ENST00000604524.1_Missense_Mutation_p.I120T|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.I120T|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.I120T|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.I120T zinc finger, SWIM-type containing 8 GAAGAGGACATTCGGTGAGGC 0.507000 12 31 0 0 1 0 0 ZYG11B 79699 broad.mit.edu 37 1 53245583 53245583 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:53245583G>A ENST00000294353.6 + 4 1155 c.1010G>A c.(1009-1011)cGg>cAg p.R337Q ZYG11B_ENST00000545132.1_Missense_Mutation_p.R337Q|ZYG11B_ENST00000443756.2_Missense_Mutation_p.R337Q NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 337 protein binding p.R337L(1) breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 TACAGTGAACGGGCATTCTTT 0.388000 78 49 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725283 158725283 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:158725283G>A ENST00000368144.2 + 1 774 c.678G>A c.(676-678)gtG>gtA p.V226V NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGGTCATTGTGGATGCCATCC 0.483000 31 48 0 0 1 0 0 PTGR2 145482 broad.mit.edu 37 14 74345864 74345864 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:74345864C>T ENST00000555661.1 + 6 730 c.585C>T c.(583-585)ctC>ctT p.L195L PTGR2_ENST00000555228.1_Silent_p.L195L|RP5-1021I20.4_ENST00000553813.1_Silent_p.L61L|PTGR2_ENST00000554885.1_Silent_p.L146L|PTGR2_ENST00000267568.4_Silent_p.L195L Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 195 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 AATGCATCCTCTTGACCTCAG 0.413000 88 52 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239161916 239161916 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:239161916C>T ENST00000254657.3 - 19 3027 c.2748G>A c.(2746-2748)ggG>ggA p.G916G PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 916 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGTTTGGGGTCCCCGAGGGGA 0.617000 81 100 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38937408 38937408 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:38937408G>A ENST00000355481.4 + 9 931 c.800_splice c.e9+1 p.S267_splice RYR1_ENST00000360985.3_Splice_Site_p.S267_splice|RYR1_ENST00000359596.3_Splice_Site_p.S267_splice NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 267 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGAGAATCAGGTAGGGCGGG 0.577000 27 100 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121471315 121471315 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:121471315C>T ENST00000257570.5 - 2 700 c.430G>A c.(430-432)Ggg>Agg p.G144R OASL_ENST00000339275.5_Missense_Mutation_p.G144R NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 144 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCCGCAGTCCCCCTGGTCTGG 0.627000 18 83 0 0 1 0 0 MAFG 4097 broad.mit.edu 37 17 79880485 79880485 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:79880485G>A ENST00000357736.4 - 3 700 c.485C>T c.(484-486)tCg>tTg p.S162L MAFG_ENST00000392366.3_Missense_Mutation_p.S162L NM_002359.3|NM_032711.3 NP_002350.1|NP_116100.2 O15525 MAFG_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G 162 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCGTCCCTACGATCGGGCATC 0.652000 17 19 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091429 9091429 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:9091429G>A ENST00000397910.4 - 1 589 c.386C>T c.(385-387)cCa>cTa p.P129L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 129 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTGGTCCTTGGGGAACTCAA 0.502000 45 80 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138644168 138644168 + Missense_Mutation SNP G G A rs137852267 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:138644168G>A ENST00000218099.2 + 8 1331 c.1324G>A c.(1324-1326)Gga>Aga p.G442R F9_ENST00000394090.2_Missense_Mutation_p.G404R NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 442 Peptidase S1. G -> E (in HEMB).|G -> R (in HEMB; severe; Angers). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AGGCAAATATGGAATATATAC 0.398000 44 6 0 0 1 0 0 LURAP1 541468 broad.mit.edu 37 1 46685580 46685580 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:46685580C>T ENST00000371980.3 + 2 501 c.408C>T c.(406-408)acC>acT p.T136T POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR NM_001013615.2 NP_001013633.1 Q96LR2 CA190_HUMAN leucine rich adaptor protein 1 136 positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm CCAGCACCACCGACCGGCTGG 0.642000 22 86 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154088746 154088746 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:154088746G>A ENST00000360256.4 - 25 7061 c.6861C>T c.(6859-6861)ggC>ggT p.G2287G F8_ENST00000330287.6_Silent_p.G152G NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2287 F5/8 type C 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCCACTGATGGCCATCTTGAC 0.418000 81 8 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81181922 81181922 + RNA SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:81181922C>T ENST00000525539.1 - 0 4793 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGGAGCTCTCCAGGCCAATCA 0.557000 71 12 0 0 1 0 0 AWAT1 158833 broad.mit.edu 37 X 69455944 69455944 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chrX:69455944G>A ENST00000374521.3 + 3 251 c.210G>A c.(208-210)agG>agA p.R70R AWAT1_ENST00000480702.1_3'UTR NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 70 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 CCTGGGTAAGGAACTGGTGTG 0.517000 38 5 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168066367 168066367 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:168066367G>A ENST00000367838.1 - 5 791 c.478C>T c.(478-480)Ctg>Ttg p.L160L GPR161_ENST00000367835.1_Silent_p.L160L|GPR161_ENST00000367836.1_Silent_p.L28L|GPR161_ENST00000539777.1_Silent_p.L82L|GPR161_ENST00000546300.1_Silent_p.L46L|GPR161_ENST00000271357.5_Silent_p.L160L|GPR161_ENST00000361697.2_Silent_p.L160L|GPR161_ENST00000537209.1_Silent_p.L180L NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 160 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) AGGGGTGGCAGGCAGCCGATG 0.572000 41 87 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123055670 123055670 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:123055670C>T ENST00000333479.7 + 24 2193 c.2016C>T c.(2014-2016)tcC>tcT p.S672S KNTC1_ENST00000450485.2_Silent_p.S635S NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 672 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ATTGGATTTCCTTGGTATGAT 0.378000 9 43 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915030 48915030 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:48915030G>A ENST00000294954.7 - 11 1927 c.1906C>T c.(1906-1908)Ctt>Ttt p.L636F STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.L574F|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.L609F NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 636 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) CTCAGCAAAAGAAAGAAATCT 0.373000 37 143 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10443985 10443985 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:10443985C>T ENST00000245503.5 - 11 1318 c.934G>A c.(934-936)Gat>Aat p.D312N MYH2_ENST00000532183.1_Missense_Mutation_p.D312N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D312N NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 312 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AATGGGTAATCATATGGGTTC 0.373000 38 34 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725279 38725279 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:38725279C>T ENST00000409072.3 - 2 1261 c.327G>A c.(325-327)atG>atA p.M109I family with sequence similarity 183, member B endometrium(1)|lung(7) 8 TGAAGTGGTTCATCCTGTGGT 0.522000 69 181 0 0 1 0 0 EDC3 80153 broad.mit.edu 37 15 74963888 74963888 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:74963888G>A ENST00000315127.4 - 3 573 c.392C>T c.(391-393)tCc>tTc p.S131F EDC3_ENST00000568176.1_Missense_Mutation_p.S131F|EDC3_ENST00000426797.3_Missense_Mutation_p.S131F NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 131 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CTGCTGCGGGGAAACGGCAAC 0.517000 79 98 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940221 144940221 + Silent SNP G G A rs71520550 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:144940221G>A ENST00000525985.1 - 2 7272 c.7201C>T c.(7201-7203)Ctg>Ttg p.L2401L P58107 EPIPL_HUMAN epiplakin 1 2401 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCCTCTGCAGAAGCTGCAGG 0.592000 38 117 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377887 113377887 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:113377887G>A ENST00000316407.4 - 7 3052 c.2642C>T c.(2641-2643)tCg>tTg p.S881L KIAA2018_ENST00000478658.1_Missense_Mutation_p.S881L|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 881 Ser-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 CTTAGATTTCGATACAGACTC 0.428000 38 99 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55168105 55168105 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:55168105G>A ENST00000396834.1 + 6 719 c.223G>A c.(223-225)Gga>Aga p.G75R IL31RA_ENST00000396836.2_Missense_Mutation_p.G94R|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.G94R|IL31RA_ENST00000359040.5_Missense_Mutation_p.G94R|IL31RA_ENST00000354961.4_Missense_Mutation_p.G75R NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 62 Fibronectin type-III 1. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) AAGCGCTTTTGGAGAAAAACA 0.308000 11 19 0 0 1 0 0 ZBTB48 3104 broad.mit.edu 37 1 6648404 6648405 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:6648404_6648405delAG ENST00000377674.4 + 9 1741_1742 c.1583_1584delAG c.(1582-1584)cfs p.Q528fs NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 528 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) TTCTGTGAACAGCGCTTCACTG 0.629 34 51 --- --- --- --- CLCN6 1185 broad.mit.edu 37 1 11889301 11889302 + Frame_Shift_Del DEL TG TG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:11889301_11889302delTG ENST00000346436.6 + 13 1222_1223 c.1170_1171delTG c.(1168-1173)tttgfs p.FV390fs CLCN6_ENST00000376487.3_Frame_Shift_Del_p.FV368fs|CLCN6_ENST00000312413.6_Frame_Shift_Del_p.C335fs|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Frame_Shift_Del_p.FV390fs NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 390 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGGTGGTGTTTGTGGCCTCGAT 0.525 89 219 --- --- --- --- KLHDC7A 127707 broad.mit.edu 37 1 18809692 18809693 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:18809692_18809693delCT ENST00000400664.1 + 1 2269_2270 c.2217_2218delCT c.(2215-2220)gactfs p.DS739fs NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 739 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCCTAGCAGACTCTGTCTCACC 0.658 12 261 --- --- --- --- HNRNPR 10236 broad.mit.edu 37 1 23665029 23665030 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:23665029_23665030delAG ENST00000374612.1 - 3 352_353 c.229_230delCT c.(229-231)gfs p.L77fs HNRNPR_ENST00000374616.3_Frame_Shift_Del_p.L77fs|HNRNPR_ENST00000427764.2_Frame_Shift_Del_p.L77fs|HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000302271.6_Frame_Shift_Del_p.L77fs|HNRNPR_ENST00000478691.1_5'UTR NM_001102398.1|NM_005826.3 NP_001095868.1|NP_005817.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 77 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) TAGTACAGACAGAGCTCCTTCT 0.351 11 241 --- --- --- --- KIAA0319L 79932 broad.mit.edu 37 1 35972235 35972236 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:35972235_35972236delAG ENST00000325722.3 - 3 877_878 c.643_644delCT c.(643-645)gfs p.L215fs NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 215 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACTGGTAGTCAGACCACCTAAT 0.421 62 261 --- --- --- --- SZT2 23334 broad.mit.edu 37 1 43916008 43916009 + Splice_Site DEL TC TC - rs139371901 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:43916008_43916009delTC ENST00000562955.1 + 71 9985_9986 c.9984_splice c.e71-1 p.S3329_splice SZT2_ENST00000372442.1_Splice_Site_p.S2487_splice NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3386 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TTCCCCACAGTCTCTGACAGTG 0.634 8 478 --- --- --- --- LINC01359 101927084 broad.mit.edu 37 1 65451008 65451009 + RNA DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:65451008_65451009delCA ENST00000447748.1 - 0 1775 AGAGCTCCAGCACAGTGACTTG 0.485 15 52 --- --- --- --- DNTTIP2 30836 broad.mit.edu 37 1 94342789 94342790 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:94342789_94342790delCA ENST00000436063.2 - 2 758_759 c.701_702delTG c.(700-702)gfs p.V234fs DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) CCTCTGAATTCACAGGTGTACC 0.361 60 288 --- --- --- --- CLCC1 23155 broad.mit.edu 37 1 109479818 109479819 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:109479818_109479819delTC ENST00000369971.2 - 10 1392_1393 c.1263_1264delGA c.(1261-1266)gattfs p.EI421fs CLCC1_ENST00000302500.4_Frame_Shift_Del_p.EI300fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.EI371fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.EI371fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.EI300fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.EI421fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.EI236fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.EI236fs NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 421 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) TCTCTCAAAATCTCTCTTCTAC 0.515 18 148 --- --- --- --- ABL2 27 broad.mit.edu 37 1 179095686 179095687 + Frame_Shift_Del DEL GT GT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:179095686_179095687delGT ENST00000502732.1 - 4 715_716 c.512_513delAC c.(511-513)cfs p.H171fs ABL2_ENST00000408940.3_Frame_Shift_Del_p.H135fs|ABL2_ENST00000511413.1_Frame_Shift_Del_p.H171fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.H150fs|ABL2_ENST00000344730.3_Frame_Shift_Del_p.H156fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.H156fs|ABL2_ENST00000392043.3_Frame_Shift_Del_p.H150fs|ABL2_ENST00000504405.1_Frame_Shift_Del_p.H135fs|ABL2_ENST00000507173.1_Frame_Shift_Del_p.H150fs NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 171 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GGTACCAGGAGTGTTTTTCCAG 0.530 T ETV6 AML 81 169 --- --- --- --- CNIH3 149111 broad.mit.edu 37 1 224804897 224804897 + Frame_Shift_Del DEL G G - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:224804897delG ENST00000272133.3 + 1 903 c.21delG c.(19-21)gcfs p.A7fs NM_152495.1 NP_689708.1 Q8TBE1 CNIH3_HUMAN cornichon family AMPA receptor auxiliary protein 3 7 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane large_intestine(5)|lung(4) 9 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) CTTTCGCTGCGTTCTGCTACA 0.597 379 745 --- --- --- --- NTPCR 84284 broad.mit.edu 37 1 233105685 233105686 + Frame_Shift_Del DEL GT GT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr1:233105685_233105686delGT ENST00000366627.4 + 4 396_397 c.325_326delGT c.(325-327)gfs p.V109fs NTPCR_ENST00000366628.4_Frame_Shift_Del_p.V109fs|NTPCR_ENST00000490098.1_3'UTR Q9BSD7 NTPCR_HUMAN nucleoside-triphosphatase, cancer-related 109 ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity large_intestine(2)|lung(1)|ovary(1) 4 AGGGCAAAGAGTGTGCGTCATC 0.520 62 117 --- --- --- --- ITSN2 50618 broad.mit.edu 37 2 24469741 24469742 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:24469741_24469742delTC ENST00000355123.4 - 28 3752_3753 c.3309_3310delGA c.(3307-3312)caaafs p.QK1103fs ITSN2_ENST00000406921.3_Frame_Shift_Del_p.QK1103fs|ITSN2_ENST00000361999.3_Frame_Shift_Del_p.QK1076fs NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1103 SH3 4. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.K1103Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACCATCCTTTCTGTCGCTTTT 0.347 17 84 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 8 424 --- --- --- --- EIF2AK2 5610 broad.mit.edu 37 2 37334636 37334637 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:37334636_37334637delTC ENST00000233057.4 - 16 1835_1836 c.1513_1514delGA c.(1513-1515)tfs p.D505fs EIF2AK2_ENST00000395127.2_Frame_Shift_Del_p.D505fs|EIF2AK2_ENST00000405334.1_Frame_Shift_Del_p.D464fs NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 505 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) ATCAAATATATCTGAGATGATG 0.302 41 82 --- --- --- --- SMYD5 10322 broad.mit.edu 37 2 73452993 73452994 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:73452993_73452994delAG ENST00000389501.4 + 13 1221_1222 c.1176_1177delAG c.(1174-1179)tcaafs p.SE392fs NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 392 Glu-rich. metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 ATGTGACCTCAgaagaggaaga 0.545 40 208 --- --- --- --- MITD1 129531 broad.mit.edu 37 2 99790457 99790458 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:99790457_99790458delTC ENST00000289359.2 - 2 249_250 c.173_174delGA c.(172-174)afs p.R58fs MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'UTR NM_138798.1 NP_620153.1 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, domain containing 1 58 MIT. protein transport late endosome membrane large_intestine(3)|lung(2)|ovary(1) 6 TGAGATTACATCTCTTAGTATT 0.272 7 47 --- --- --- --- ITGB6 3694 broad.mit.edu 37 2 160994167 160994168 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:160994167_160994168delCA ENST00000283249.2 - 10 1674_1675 c.1437_1438delTG c.(1435-1440)tgccfs p.CA479fs ITGB6_ENST00000428609.2_Frame_Shift_Del_p.CA437fs|ITGB6_ENST00000409967.2_Frame_Shift_Del_p.CA479fs|ITGB6_ENST00000409872.1_Frame_Shift_Del_p.CA479fs P18564 ITB6_HUMAN integrin, beta 6 479 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GGGTGGCAGGCACACACCCCAC 0.584 13 95 --- --- --- --- CASP8 841 broad.mit.edu 37 2 202137381 202137382 + Frame_Shift_Del DEL AG AG - rs149933993 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:202137381_202137382delAG ENST00000358485.4 + 4 805_806 c.609_610delAG c.(607-612)atagfs p.IE203fs CASP8_ENST00000323492.7_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000392258.3_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.IE144fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.IE176fs NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 144 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 ATATTTTCATAGAGATGGAGAA 0.396 HNSCC(4;0.00038) 37 224 --- --- --- --- INO80D 54891 broad.mit.edu 37 2 206911290 206911291 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:206911290_206911291delCT ENST00000403263.1 - 5 1414_1415 c.1010_1011delAG c.(1009-1011)gfs p.E337fs NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 337 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 GCGAGGCCTGCTCTGAGTCCTC 0.421 9 226 --- --- --- --- ZNF142 7701 broad.mit.edu 37 2 219507187 219507189 + In_Frame_Del DEL TGC TGC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:219507187_219507189delTGC ENST00000411696.2 - 7 4829_4831 c.4050_4052delGCA c.(4048-4053)cac>ca p.QH1350del ZNF142_ENST00000449707.1_In_Frame_Del_p.QH1350del P52746 ZN142_HUMAN zinc finger protein 142 1350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AAGCCGTGGGTGCTGTTTACGGG 0.650 30 77 --- --- --- --- ACSL3 2181 broad.mit.edu 37 2 223782822 223782823 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:223782822_223782823delAG ENST00000357430.3 + 6 1146_1147 c.615_616delAG c.(613-618)acagfs p.TE205fs AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Frame_Shift_Del_p.TE205fs NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 205 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) TAAATGAAACAGAGGTGACCAA 0.351 T ETV1 prostate 10 267 --- --- --- --- DNER 92737 broad.mit.edu 37 2 230411682 230411683 + Frame_Shift_Ins INS - - A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:230411682_230411683insA ENST00000341772.4 - 5 1107_1108 c.973_974insT c.(973-975)cacfs p.H325fs NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 325 EGF-like 3. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CTTCGTGGTGCATTTTCCTTTT 0.446 74 292 --- --- --- --- SP100 6672 broad.mit.edu 37 2 231314322 231314323 + Frame_Shift_Del DEL AG AG - rs140509980 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:231314322_231314323delAG ENST00000264052.5 + 7 988_989 c.633_634delAG c.(631-636)acaafs p.TE211fs SP100_ENST00000340126.4_Frame_Shift_Del_p.TE211fs|SP100_ENST00000341950.4_Frame_Shift_Del_p.TE211fs|SP100_ENST00000409112.1_Frame_Shift_Del_p.TE211fs|SP100_ENST00000409897.1_Frame_Shift_Del_p.TE176fs|SP100_ENST00000409341.1_Frame_Shift_Del_p.TE211fs|SP100_ENST00000427101.2_Frame_Shift_Del_p.TE186fs|SP100_ENST00000409824.1_Frame_Shift_Del_p.TE186fs NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 211 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCTGTGAAACAGAACAGATAAA 0.431 15 98 --- --- --- --- NCL 4691 broad.mit.edu 37 2 232326309 232326310 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr2:232326309_232326310delCT ENST00000322723.4 - 3 794_795 c.554_555delAG c.(553-555)gfs p.E185fs NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 185 Asp/Glu-rich (acidic). angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) cgtcctcatcCTCTGAGGCAGG 0.505 7 50 --- --- --- --- NR1D2 9975 broad.mit.edu 37 3 24003893 24003895 + In_Frame_Del DEL CAG CAG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:24003893_24003895delCAG ENST00000312521.4 + 5 1262_1264 c.943_945delCAG c.(943-945)del p.Q316del NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117.3 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 316 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 TAGTGAGAGCCAGCAGCATCTCA 0.424 13 50 --- --- --- --- TOP2B 7155 broad.mit.edu 37 3 25665051 25665052 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:25665051_25665052delCA ENST00000435706.2 - 21 2867_2868 c.2666_2667delTG c.(2665-2667)gfs p.V889fs TOP2B_ENST00000264331.4_Frame_Shift_Del_p.V894fs Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 894 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 TGACATTGTTCACAATTTCCCT 0.361 22 107 --- --- --- --- SLC4A7 9497 broad.mit.edu 37 3 27427459 27427460 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:27427459_27427460delTC ENST00000295736.5 - 23 3458_3459 c.3388_3389delGA c.(3388-3390)afs p.E1130fs SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.E1139fs|SLC4A7_ENST00000455077.1_Frame_Shift_Del_p.E1011fs|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.E1126fs|SLC4A7_ENST00000428386.1_Frame_Shift_Del_p.E1006fs|SLC4A7_ENST00000388777.4_Frame_Shift_Del_p.E680fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.E1126fs|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000437179.1_Frame_Shift_Del_p.E1011fs|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.E1122fs|SLC4A7_ENST00000435667.2_Frame_Shift_Del_p.E1015fs NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 1130 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 CCAACTAAGTTCTCTCTTCGTG 0.327 9 213 --- --- --- --- GOLGA4 2803 broad.mit.edu 37 3 37365876 37365877 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:37365876_37365877delAG ENST00000361924.2 + 14 2873_2874 c.2499_2500delAG c.(2497-2502)acaafs p.TE833fs GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Frame_Shift_Del_p.TE855fs NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 833 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ATTTGGAAACAGAAAGAATTCT 0.411 34 141 --- --- --- --- ZNF197 10168 broad.mit.edu 37 3 44684240 44684241 + Frame_Shift_Del DEL TG TG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:44684240_44684241delTG ENST00000396058.1 + 5 1785_1786 c.1618_1619delTG c.(1618-1620)tfs p.C540fs ZNF197_ENST00000344387.4_Frame_Shift_Del_p.C540fs|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA O14709 ZN197_HUMAN zinc finger protein 197 540 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) ACCCTATAAATGTGATGAATGT 0.406 80 186 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 175 --- --- --- --- FAM212A 389119 broad.mit.edu 37 3 49842362 49842363 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:49842362_49842363delCT ENST00000333323.4 + 2 939_940 c.806_807delCT c.(805-807)gfs p.A269fs NM_203370.1 NP_976248.1 Q96EL1 CC054_HUMAN family with sequence similarity 212, member A 267 CGCTTTGCAGCTCTCATGAGCT 0.589 27 727 --- --- --- --- CYB561D2 11068 broad.mit.edu 37 3 50391061 50391062 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:50391061_50391062delCT ENST00000418577.1 + 3 1131_1132 c.555_556delCT c.(553-558)gcctfs p.AS185fs CYB561D2_ENST00000232508.5_Frame_Shift_Del_p.AS185fs|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000424512.1_Frame_Shift_Del_p.AS185fs|CYB561D2_ENST00000425346.1_Frame_Shift_Del_p.AS185fs O14569 C56D2_HUMAN cytochrome b561 family, member D2 185 Cytochrome b561. electron transport chain|transport integral to membrane metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGTTCACTGCCTCTGTCACTGG 0.554 30 779 --- --- --- --- ACY1 95 broad.mit.edu 37 3 52021209 52021210 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:52021209_52021210delAG ENST00000458031.2 + 12 1205_1206 c.974_975delAG c.(973-975)cfs p.Q325fs ABHD14A-ACY1_ENST00000463937.1_Frame_Shift_Del_p.Q336fs|ACY1_ENST00000404366.2_Frame_Shift_Del_p.Q235fs|ACY1_ENST00000476351.1_Frame_Shift_Del_p.Q200fs|ACY1_ENST00000494103.1_Frame_Shift_Del_p.Q163fs|ACY1_ENST00000476854.1_Intron Q03154 ACY1_HUMAN aminoacylase 1 235 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) AAGGAATGGCAGAGGTGAGGCA 0.550 63 369 --- --- --- --- TMF1 7110 broad.mit.edu 37 3 69079119 69079120 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:69079119_69079120delTC ENST00000543976.1 - 11 2695_2696 c.2449_2450delGA c.(2449-2451)afs p.E817fs CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.E814fs|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 814 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) AGCTGCACGTTCTCTCTCAACT 0.421 7 168 --- --- --- --- C3orf38 285237 broad.mit.edu 37 3 88199298 88199299 + Frame_Shift_Del DEL TG TG - rs17852198 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:88199298_88199299delTG ENST00000318887.3 + 1 406_407 c.96_97delTG c.(94-99)actcfs p.TV32fs C3orf38_ENST00000486971.1_Frame_Shift_Del_p.TV32fs NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 32 apoptosis breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TATGCGACACTGTCACCAACCG 0.624 25 106 --- --- --- --- QTRTD1 79691 broad.mit.edu 37 3 113798846 113798847 + Frame_Shift_Del DEL AG AG - rs149531874 byFrequency TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:113798846_113798847delAG ENST00000281273.4 + 8 1097_1098 c.840_841delAG c.(838-843)acagfs p.TE280fs QTRTD1_ENST00000493014.1_Frame_Shift_Del_p.TE174fs|QTRTD1_ENST00000485050.1_Frame_Shift_Del_p.TE292fs|QTRTD1_ENST00000479882.1_Frame_Shift_Del_p.TE157fs NM_024638.3 NP_078914.1 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain containing 1 280 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 ATCAAGTAACAGAGCGGGGATG 0.421 11 213 --- --- --- --- PIGZ 80235 broad.mit.edu 37 3 196674137 196674138 + Frame_Shift_Del DEL AA AA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr3:196674137_196674138delAA ENST00000412723.1 - 3 1776_1777 c.1630_1631delTT c.(1630-1632)afs p.L544fs NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 544 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) ATGGGGAAATAAAAGTGTTTCA 0.589 34 109 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128590269 128590270 + Frame_Shift_Del DEL TG TG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr4:128590269_128590270delTG ENST00000335251.5 + 5 1154_1155 c.1051_1052delTG c.(1051-1053)tfs p.C351fs INTU_ENST00000296461.5_Frame_Shift_Del_p.C351fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 351 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TCTCACACTCTGTGACATGCTG 0.327 18 71 --- --- --- --- DNAJC21 134218 broad.mit.edu 37 5 34937626 34937627 + Frame_Shift_Del DEL AA AA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:34937626_34937627delAA ENST00000382021.2 + 5 861_862 c.634_635delAA c.(634-636)afs p.K212fs DNAJC21_ENST00000303525.7_Frame_Shift_Del_p.K212fs|DNAJC21_ENST00000342382.4_Frame_Shift_Del_p.K212fs NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 212 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTTCATTCGTAAAAGAGATAAA 0.455 11 154 --- --- --- --- MAP3K1 4214 broad.mit.edu 37 5 56177863 56177864 + Frame_Shift_Del DEL AC AC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:56177863_56177864delAC ENST00000399503.3 + 14 2836_2837 c.2836_2837delAC c.(2836-2838)afs p.T949fs NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 949 Poly-Thr. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) aacaacaacaacaacaacaaca 0.416 9 68 --- --- --- --- TNPO1 3842 broad.mit.edu 37 5 72192962 72192964 + In_Frame_Del DEL GTT GTT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:72192962_72192964delGTT ENST00000337273.5 + 20 2748_2750 c.2322_2324delGTT c.(2320-2325)acg>ac p.TL774del TNPO1_ENST00000454282.1_In_Frame_Del_p.TL724del|TNPO1_ENST00000523768.1_In_Frame_Del_p.TL724del|TNPO1_ENST00000506351.2_In_Frame_Del_p.TL766del NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 774 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) CACCAAAGACGTTGTTAGAGAAT 0.369 30 95 --- --- --- --- TGFBI 7045 broad.mit.edu 37 5 135382971 135382972 + Frame_Shift_Del DEL TG TG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:135382971_135382972delTG ENST00000442011.2 + 6 794_795 c.633_634delTG c.(631-636)actgfs p.TV211fs TGFBI_ENST00000305126.8_Frame_Shift_Del_p.TV211fs NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 211 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGATTGTAACTGTGAACTGTGC 0.525 13 43 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137715279 137715280 + Frame_Shift_Del DEL AC AC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:137715279_137715280delAC ENST00000314358.5 + 5 787_788 c.587_588delAC c.(586-588)tfs p.Y196fs NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 196 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TTAGGTCCCTACAGTGTTCAAG 0.406 18 64 --- --- --- --- NR3C1 2908 broad.mit.edu 37 5 142780124 142780125 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:142780124_142780125delTC ENST00000343796.2 - 2 1273_1274 c.280_281delGA c.(280-282)afs p.E94fs NR3C1_ENST00000231509.3_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000394466.2_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000394464.2_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000503201.1_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000424646.2_Frame_Shift_Del_p.E94fs|NR3C1_ENST00000415690.2_Frame_Shift_Del_p.E94fs NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 94 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) CACTTTTGTTTCTGTCTCTCCC 0.460 10 198 --- --- --- --- GPR151 134391 broad.mit.edu 37 5 145895587 145895588 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr5:145895587_145895588delAG ENST00000311104.2 - 1 165_166 c.89_90delCT c.(88-90)tfs p.S30fs NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 30 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGGGAATCAGAGGGCAGGTA 0.559 15 218 --- --- --- --- NEDD9 4739 broad.mit.edu 37 6 11185769 11185771 + In_Frame_Del DEL AGA AGA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:11185769_11185771delAGA ENST00000379446.5 - 7 2295_2297 c.2129_2131delTCT c.(2128-2133)tac>t p.FY710del NEDD9_ENST00000504387.1_In_Frame_Del_p.FY710del|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 710 Divergent helix-loop-helix motif. actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TGGTCATAGTAGAAGCACAGCAA 0.542 116 790 --- --- --- --- TRIM27 5987 broad.mit.edu 37 6 28889744 28889744 + Frame_Shift_Del DEL G G - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:28889744delG ENST00000377199.3 - 2 797 c.441delC c.(439-441)ctfs p.L147fs TRIM27_ENST00000377194.3_Frame_Shift_Del_p.L147fs|TRIM27_ENST00000498117.1_5'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 147 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TTAAATGGTCGAGCTGGTTCT 0.448 T RET papillary thyroid 79 109 --- --- --- --- MOG 4340 broad.mit.edu 37 6 29634038 29634039 + Frame_Shift_Del DEL GA GA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:29634038_29634039delGA ENST00000376894.4 + 3 664_665 c.546_547delGA c.(544-549)ctgafs p.LR182fs MOG_ENST00000376917.3_Frame_Shift_Del_p.LR182fs|MOG_ENST00000396701.2_Frame_Shift_Del_p.LR182fs|MOG_ENST00000376891.4_Frame_Shift_Del_p.LR182fs|MOG_ENST00000490427.1_Frame_Shift_Del_p.LR66fs|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000494692.1_Frame_Shift_Del_p.LR182fs|MOG_ENST00000483013.1_Frame_Shift_Del_p.LR66fs|MOG_ENST00000416766.2_Intron|MOG_ENST00000396704.3_Frame_Shift_Del_p.LR182fs|MOG_ENST00000376888.2_Frame_Shift_Del_p.LR66fs|MOG_ENST00000376898.3_Frame_Shift_Del_p.LR182fs|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000431798.2_Frame_Shift_Del_p.LR182fs Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 182 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 AGTACAGACTGAGAGGTACAGG 0.540 40 255 --- --- --- --- RXRB 6257 broad.mit.edu 37 6 33162541 33162542 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:33162541_33162542delAG ENST00000374680.3 - 10 1730_1731 c.1519_1520delCT c.(1519-1521)gfs p.L507fs RXRB_ENST00000374685.4_Frame_Shift_Del_p.L511fs|RXRB_ENST00000544186.1_Frame_Shift_Del_p.L321fs NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 507 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GAAGAAAAACAGATGCTCTAGA 0.564 32 138 --- --- --- --- LYRM2 57226 broad.mit.edu 37 6 90347572 90347574 + In_Frame_Del DEL GAG GAG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:90347572_90347574delGAG ENST00000523377.1 - 2 109_111 c.73_75delCTC c.(73-75)del p.L25del LYRM2_ENST00000520318.1_In_Frame_Del_p.L25del|LYRM2_ENST00000517396.1_5'UTR|LYRM2_ENST00000520441.1_In_Frame_Del_p.L25del NM_020466.4 NP_065199.1 Q9NU23 LYRM2_HUMAN LYR motif containing 2 25 kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) TCCTTCTGTAGAGGAGAAGAACT 0.404 12 277 --- --- --- --- AKAP12 9590 broad.mit.edu 37 6 151673453 151673454 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr6:151673453_151673454delAG ENST00000402676.2 + 4 4167_4168 c.3927_3928delAG c.(3925-3930)acaafs p.TE1309fs AKAP12_ENST00000354675.6_Frame_Shift_Del_p.TE1211fs|AKAP12_ENST00000253332.1_Frame_Shift_Del_p.TE1309fs|AKAP12_ENST00000359755.5_Frame_Shift_Del_p.TE1204fs NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1309 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GTGAAGGGACAGAAGAAGCTGA 0.470 27 110 --- --- --- --- POMZP3 22932 broad.mit.edu 37 7 76239534 76239535 + Splice_Site DEL TG TG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:76239534_76239535delTG ENST00000310842.4 - 7 1260 c.e7-2 AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Splice_Site NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) CTTCTGTCACTGTGAAAGGAGA 0.505 10 159 --- --- --- --- CUX1 1523 broad.mit.edu 37 7 101845205 101845206 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:101845205_101845206delAG ENST00000360264.3 + 18 2681_2682 c.2661_2662delAG c.(2659-2664)tcagfs p.SE887fs CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_Frame_Shift_Del_p.SE876fs|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Frame_Shift_Del_p.SE854fs|CUX1_ENST00000546411.2_Frame_Shift_Del_p.SE774fs|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Frame_Shift_Del_p.SE718fs|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Frame_Shift_Del_p.SE820fs NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 876 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CCTCGTCGTCAGAGTACTGGAA 0.673 12 181 --- --- --- --- KMT2E 55904 broad.mit.edu 37 7 104752698 104752699 + Frame_Shift_Del DEL TT TT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:104752698_104752699delTT ENST00000334877.4 + 26 4903_4904 c.4369_4370delTT c.(4369-4371)tfs p.F1457fs KMT2E_ENST00000257745.4_Frame_Shift_Del_p.F1499fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.F1499fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.F554fs|SRPK2_ENST00000493638.1_Intron lysine (K)-specific methyltransferase 2E TCAAAGAAACTTTTATCCAGCA 0.470 20 35 --- --- --- --- KCP 375616 broad.mit.edu 37 7 128532910 128532910 + RNA DEL C C - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr7:128532910delC ENST00000476647.2 - 0 1463 Q6ZWJ8 KCP_HUMAN kielin/chordin-like protein extracellular region central_nervous_system(1)|endometrium(3) 4 CCAGGATCAGCCCAGGCACTC 0.672 2 4 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209270 28209271 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:28209270_28209271delCT ENST00000344423.5 - 7 1105_1106 c.974_975delAG c.(973-975)gfs p.E325fs ZNF395_ENST00000523202.1_Frame_Shift_Del_p.E325fs|ZNF395_ENST00000523095.1_Frame_Shift_Del_p.E325fs NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 325 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TCAGCTGCACCTCTGTGTAGTA 0.619 12 441 --- --- --- --- SHARPIN 81858 broad.mit.edu 37 8 145154268 145154269 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:145154268_145154269delCA ENST00000398712.2 - 6 1269_1270 c.833_834delTG c.(832-834)gfs p.V278fs NM_030974.3 NP_112236.3 Q9H0F6 SHRPN_HUMAN SHANK-associated RH domain interactor 278 Interaction with SHANK1 (By similarity).|Ubiquitin-like. negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCGCTCAGGCACACACAGGCA 0.619 25 131 --- --- --- --- FBXL6 26233 broad.mit.edu 37 8 145579332 145579333 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr8:145579332_145579333delCA ENST00000331890.5 - 9 1542_1543 c.1478_1479delTG c.(1477-1479)gfs p.V493fs FBXL6_ENST00000455319.2_Frame_Shift_Del_p.V487fs|FBXL6_ENST00000526524.1_5'UTR NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 493 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGCTGCTGATCACAGAGCTGTG 0.653 12 43 --- --- --- --- NFX1 4799 broad.mit.edu 37 9 33366735 33366736 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:33366735_33366736delAG ENST00000379540.3 + 22 3210_3211 c.3148_3149delAG c.(3148-3150)tfs p.S1050fs NFX1_ENST00000463421.1_3'UTR NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 1050 R3H. inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GAGCTATGACAGTGAACCGAAG 0.545 23 49 --- --- --- --- ACTL7B 10880 broad.mit.edu 37 9 111617184 111617185 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:111617184_111617185delCA ENST00000374667.3 - 1 2054_2055 c.1026_1027delTG c.(1024-1029)tggcfs p.CG342fs NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 342 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTGCAGCCGCCACACAGTAGCA 0.693 39 79 --- --- --- --- PPP6C 5537 broad.mit.edu 37 9 127933387 127933388 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:127933387_127933388delCT ENST00000451402.1 - 3 478_479 c.258_259delAG c.(256-261)actgfs p.TV86fs PPP6C_ENST00000373547.4_Frame_Shift_Del_p.TV49fs|PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000415905.1_Frame_Shift_Del_p.TV49fs NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 49 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TCTCCACACACTGTTACTGGTG 0.371 9 282 --- --- --- --- REXO4 57109 broad.mit.edu 37 9 136272149 136272151 + In_Frame_Del DEL CTT CTT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:136272149_136272151delCTT ENST00000371942.3 - 8 1394_1396 c.1195_1197delAAG c.(1195-1197)del p.K399del REXO4_ENST00000371935.2_In_Frame_Del_p.K227del NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 399 nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity p.K399delK(1) kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) TCTCCCACTCCTTCTTCACCATG 0.621 OREG0019587 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 102 --- --- --- --- NACC2 138151 broad.mit.edu 37 9 138903681 138903681 + Frame_Shift_Del DEL T T - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr9:138903681delT ENST00000371753.1 - 5 1503 c.1445delA c.(1444-1446)ggfs p.E482fs NACC2_ENST00000277554.2_Frame_Shift_Del_p.E482fs Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing 482 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization nuclear body endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 AGGCGGGAACTCGGGGTCGAG 0.687 9 0 --- --- --- --- TET1 80312 broad.mit.edu 37 10 70451223 70451224 + Frame_Shift_Del DEL GT GT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:70451223_70451224delGT ENST00000373644.4 + 12 6272_6273 c.6063_6064delGT c.(6061-6066)gagtfs p.EC2021fs NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 2021 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TTTTGATTGAGTGTGCCCGGCG 0.520 33 174 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88768817 88768819 + RNA DEL GAA GAA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:88768817_88768819delGAA ENST00000444431.1 + 0 3417_3419 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CACTGCTGAGGAAGAAGAAGAAA 0.493 24 96 --- --- --- --- CALHM2 51063 broad.mit.edu 37 10 105209357 105209358 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:105209357_105209358delAG ENST00000393235.1 - 3 1538_1539 c.341_342delCT c.(340-342)cfs p.P114fs CALHM2_ENST00000260743.5_Frame_Shift_Del_p.P114fs|CALHM2_ENST00000369788.3_Frame_Shift_Del_p.P114fs Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 114 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 ACCAGGTGACAGGGGCCACAGC 0.624 51 183 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129902322 129902323 + Frame_Shift_Del DEL TG TG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr10:129902322_129902323delTG ENST00000368654.3 - 13 8156_8157 c.7781_7782delCA c.(7780-7782)afs p.T2594fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.T2234fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2594 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGCAGTGTCTGTTAGTTCTGG 0.485 42 120 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1254404 1254410 + Frame_Shift_Del DEL GCGGGCG GCGGGCG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:1254404_1254410delGCGGGCG ENST00000447027.1 + 18 2294_2300 c.2236_2242delGCGGGCG c.(2236-2244)ccfs p.AGA746fs MUC5B_ENST00000529681.1_Frame_Shift_Del_p.AGA743fs Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 743 TIL 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCTCAATGACGCGGGCGCCTGTGTGCC 0.700 16 23 --- --- --- --- MADD 8567 broad.mit.edu 37 11 47307065 47307066 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:47307065_47307066delCT ENST00000342922.4 + 14 2832_2833 c.2475_2476delCT c.(2473-2478)gactfs p.DS825fs MADD_ENST00000349238.3_Frame_Shift_Del_p.DS825fs|MADD_ENST00000311027.5_Frame_Shift_Del_p.DS825fs|MADD_ENST00000406482.1_Frame_Shift_Del_p.DS782fs|MADD_ENST00000407859.3_Frame_Shift_Del_p.DS782fs|MADD_ENST00000402799.1_Frame_Shift_Del_p.DS782fs|MADD_ENST00000402192.2_Frame_Shift_Del_p.DS825fs|MADD_ENST00000395336.3_Frame_Shift_Del_p.DS825fs|MADD_ENST00000395344.3_Frame_Shift_Del_p.DS782fs NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 825 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CAGAGTCAGACTCTCGGGCAAG 0.574 217 284 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60698117 60698118 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:60698117_60698118delAG ENST00000005286.4 + 5 1155_1156 c.1002_1003delAG c.(1000-1005)acagfs p.TE334fs TMEM132A_ENST00000453848.2_Frame_Shift_Del_p.TE334fs NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 334 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTGGGCTCACAGAGCCAGATTC 0.634 32 118 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61076533 61076534 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:61076533_61076534delCA ENST00000301764.7 - 21 2979_2980 c.2582_2583delTG c.(2581-2583)gfs p.V861fs DDB1_ENST00000450997.2_Frame_Shift_Del_p.V172fs NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 861 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTTTTCAGCCACAGTCTGTAG 0.480 Nucleotide excision repair (NER) 30 188 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62288507 62288508 + Frame_Shift_Del DEL AT AT - rs114666146 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:62288507_62288508delAT ENST00000378024.4 - 5 13655_13656 c.13381_13382delAT c.(13381-13383)gfs p.M4461fs AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4461 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AAAGTCAGGCATAGAGATTTTG 0.450 12 379 --- --- --- --- SF3B2 10992 broad.mit.edu 37 11 65822714 65822716 + In_Frame_Del DEL AGA AGA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:65822714_65822716delAGA ENST00000528302.1 + 4 480_482 c.426_428delAGA c.(424-429)tcg>tc p.SE142del SF3B2_ENST00000322535.6_In_Frame_Del_p.SE142del Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 142 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 TGGCACTGTCAGAGGAGGAGCGG 0.650 18 90 --- --- --- --- PPFIA1 8500 broad.mit.edu 37 11 70171677 70171678 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:70171677_70171678delAG ENST00000253925.7 + 5 818_819 c.603_604delAG c.(601-606)aaagfs p.KE201fs CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.KE201fs|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 201 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CCACACACAAAGAGGTAAGCTT 0.421 37 236 --- --- --- --- INPPL1 3636 broad.mit.edu 37 11 71939239 71939240 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:71939239_71939240delAG ENST00000298229.2 + 2 392_393 c.188_189delAG c.(187-189)cfs p.Q63fs INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 63 SH2. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ATCAGGTATCAGAAGCATGTGC 0.579 46 244 --- --- --- --- OR2AT4 341152 broad.mit.edu 37 11 74800209 74800210 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:74800209_74800210delAG ENST00000305159.3 - 1 589_590 c.549_550delCT c.(547-552)ttgtfs p.FC183fs NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 AGATGATCACAGAAGCAGTGGT 0.584 15 76 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90461664 90461665 + RNA INS - - TGA rs71058352 by1000genomes TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:90461664_90461665insTGA ENST00000562678.1 + 0 185 aaattttgtggtggtggtggtg 0.391 6 3 --- --- --- --- BIRC2 329 broad.mit.edu 37 11 102221293 102221294 + Frame_Shift_Ins INS - - A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:102221293_102221294insA ENST00000227758.2 + 2 2107_2108 c.708_709insA c.(706-711)gctgtcfs p.V237fs BIRC2_ENST00000532672.1_Frame_Shift_Ins_p.V216fs|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Frame_Shift_Ins_p.V188fs NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 237 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) AGGATGATGCTATGTCAGAACA 0.441 56 211 --- --- --- --- TTC12 54970 broad.mit.edu 37 11 113215119 113215120 + Frame_Shift_Del DEL GA GA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:113215119_113215120delGA ENST00000393020.1 + 13 1516_1517 c.1111_1112delGA c.(1111-1113)gfs p.E371fs TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Frame_Shift_Del_p.E371fs|TTC12_ENST00000483239.2_Frame_Shift_Del_p.E377fs|TTC12_ENST00000314756.3_Frame_Shift_Del_p.E371fs Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 371 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) CGCCCAGACTGAGAGCGGACGG 0.589 54 303 --- --- --- --- HYOU1 10525 broad.mit.edu 37 11 118919538 118919539 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr11:118919538_118919539delTC ENST00000404233.3 - 18 2176_2177 c.2052_2053delGA c.(2050-2055)gaagfs p.EK684fs HYOU1_ENST00000525859.1_Frame_Shift_Del_p.EK622fs|HYOU1_ENST00000529972.1_Frame_Shift_Del_p.EK622fs|HYOU1_ENST00000543287.1_3'UTR NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 684 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) TTCTGCTTCTTCTCTCCCTCTG 0.609 29 96 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 1017101 1017102 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:1017101_1017102delCA ENST00000537687.1 + 27 8155_8156 c.7512_7513delCA c.(7510-7515)ggcafs p.GT2504fs WNK1_ENST00000530271.2_Frame_Shift_Del_p.GT2742fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.GT2244fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.GT1837fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.GT1996fs NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2244 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCAGGAAGGGCACATTCACAGA 0.525 12 263 --- --- --- --- DNAJC14 85406 broad.mit.edu 37 12 56221295 56221296 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:56221295_56221296delTC ENST00000357606.3 - 3 1436_1437 c.1147_1148delGA c.(1147-1149)tfs p.D383fs DNAJC14_ENST00000317269.3_Frame_Shift_Del_p.D383fs|DNAJC14_ENST00000317287.5_Frame_Shift_Del_p.D383fs|RP11-762I7.5_ENST00000546837.1_Frame_Shift_Del_p.R12fs Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 383 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 TGGCCTGCTATCTCTCAGCAGA 0.550 57 119 --- --- --- --- CNOT2 4848 broad.mit.edu 37 12 70732570 70732572 + In_Frame_Del DEL AAC AAC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:70732570_70732572delAAC ENST00000551483.1 + 2 4254_4256 c.99_101delAAC c.(97-102)tta>tt p.LT33del CNOT2_ENST00000418359.3_In_Frame_Del_p.LT382del|CNOT2_ENST00000229195.3_In_Frame_Del_p.LT382del Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 382 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GAAGTGACTTAACAACATTAGGC 0.399 24 656 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101774928 101774929 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:101774928_101774929delTC ENST00000261637.4 + 58 7769_7770 c.7595_7596delTC c.(7594-7596)afs p.I2532fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2532 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ATGAAAAGTATCTCTCTCGCCT 0.366 8 137 --- --- --- --- STX2 2054 broad.mit.edu 37 12 131291609 131291610 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr12:131291609_131291610delCA ENST00000261653.6 - 6 546_547 c.380_381delTG c.(379-381)gfs p.V127fs STX2_ENST00000392373.2_Frame_Shift_Del_p.V127fs NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 127 acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) CCATGGCTTCCACAAACTTCCG 0.510 31 130 --- --- --- --- CKAP2 26586 broad.mit.edu 37 13 53048124 53048125 + Frame_Shift_Del DEL AA AA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr13:53048124_53048125delAA ENST00000378037.5 + 8 1800_1801 c.1710_1711delAA c.(1708-1713)acaafs p.TK570fs CKAP2_ENST00000258607.5_Frame_Shift_Del_p.TK569fs|CKAP2_ENST00000490903.1_Frame_Shift_Del_p.TK521fs NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 570 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) ACAACAAAACAAAAGATCCAAC 0.347 15 56 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24803757 24803759 + In_Frame_Del DEL CAG CAG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:24803757_24803759delCAG ENST00000310677.4 - 2 213_215 c.100_102delCTG c.(100-102)del p.L34del RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000418030.2_In_Frame_Del_p.L34del|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_In_Frame_Del_p.L34del NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 34 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GCACGATCCCCAGCAGCAGCAGC 0.700 5 11 --- --- --- --- TMEM251 26175 broad.mit.edu 37 14 93652908 93652909 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:93652908_93652909delAG ENST00000415050.2 + 2 777_778 c.402_403delAG c.(400-405)actgfs p.TV134fs TMEM251_ENST00000283534.4_Frame_Shift_Del_p.TV96fs|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron NM_001098621.1 NP_001092091.1 transmembrane protein 251 ATCCCAAAACAGTGGGCTACTG 0.416 7 169 --- --- --- --- CDCA4 55038 broad.mit.edu 37 14 105477801 105477802 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr14:105477801_105477802delCT ENST00000336219.3 - 2 620_621 c.465_466delAG c.(463-468)aggafs p.RG155fs CDCA4_ENST00000392590.3_Frame_Shift_Del_p.RG155fs NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 155 nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) TGAAAGCTTCCTCTGTTTTCTC 0.535 24 52 --- --- --- --- CYFIP1 23191 broad.mit.edu 37 15 22954351 22954353 + In_Frame_Del DEL AAG AAG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:22954351_22954353delAAG ENST00000313077.7 + 14 1626_1628 c.1501_1503delAAG c.(1501-1503)del p.K504del CYFIP1_ENST00000560848.1_In_Frame_Del_p.K504del NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 504 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GCAGGCCATCAAGAAGAAGAAGA 0.596 9 261 --- --- --- --- ARHGAP11A 9824 broad.mit.edu 37 15 32929647 32929648 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:32929647_32929648delCT ENST00000361627.3 + 12 3395_3396 c.2673_2674delCT c.(2671-2676)tcctfs p.SS891fs ARHGAP11A_ENST00000565905.1_Frame_Shift_Del_p.SS702fs|ARHGAP11A_ENST00000543522.1_Frame_Shift_Del_p.SS702fs NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 891 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CAAAAGATTCCTCTGTTTCATG 0.411 8 181 --- --- --- --- SLC24A5 283652 broad.mit.edu 37 15 48414273 48414274 + Frame_Shift_Del DEL GT GT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:48414273_48414274delGT ENST00000482911.2 + 2 382_383 c.341_342delGT c.(340-342)afs p.S114fs SLC24A5_ENST00000341459.3_Intron|SLC24A5_ENST00000449382.2_Intron Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TTCTGGGAGAGTGTGCCACACA 0.480 33 112 --- --- --- --- MEF2A 4205 broad.mit.edu 37 15 100252710 100252715 + In_Frame_Del DEL CAGCAG CAGCAG - rs72276751 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr15:100252710_100252715delCAGCAG ENST00000354410.5 + 11 1863_1868 c.1234_1239delCAGCAG c.(1234-1239)del p.QQ420del MEF2A_ENST00000453228.2_In_Frame_Del_p.QQ418del|MEF2A_ENST00000338042.6_In_Frame_Del_p.QQ427del|MEF2A_ENST00000557785.1_In_Frame_Del_p.QQ418del|MEF2A_ENST00000558812.1_In_Frame_Del_p.QQ358del|MEF2A_ENST00000557942.1_In_Frame_Del_p.QQ426del|MEF2A_ENST00000449277.2_In_Frame_Del_p.QQ350del NM_005587.2 NP_005578.2 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 428 Gln/Pro-rich. apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) ATCGGGCTTCcagcagcagcagcagc 0.607 5 6 --- --- --- --- TMC5 79838 broad.mit.edu 37 16 19498593 19498594 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:19498593_19498594delCT ENST00000396229.2 + 17 3267_3268 c.2518_2519delCT c.(2518-2520)cfs p.L840fs TMC5_ENST00000561503.1_Frame_Shift_Del_p.L481fs|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Frame_Shift_Del_p.L840fs|TMC5_ENST00000541464.1_Frame_Shift_Del_p.L788fs|TMC5_ENST00000381414.4_Frame_Shift_Del_p.L840fs|TMC5_ENST00000564959.1_Frame_Shift_Del_p.L523fs|TMC5_ENST00000219821.5_Frame_Shift_Del_p.L594fs NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 840 integral to membrane p.L840H(1)|p.L594H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CATCTTCTTGCTCTTTTTCCCA 0.545 24 39 --- --- --- --- FHOD1 29109 broad.mit.edu 37 16 67272181 67272182 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:67272181_67272182delCA ENST00000258201.4 - 5 717_718 c.470_471delTG c.(469-471)gfs p.V157fs FHOD1_ENST00000567687.1_Intron NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 157 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CCTCTGAATGCACAAATTCAGG 0.599 35 65 --- --- --- --- TMED6 146456 broad.mit.edu 37 16 69383480 69383481 + Frame_Shift_Del DEL TA TA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:69383480_69383481delTA ENST00000288025.3 - 2 342_343 c.287_288delTA c.(286-288)afs p.I96fs RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Frame_Shift_Del_p.HR88fs NM_144676.3 NP_653277.2 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain containing 6 96 GOLD. transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 GGGAGGTGTCTATGAGAAATCC 0.480 11 236 --- --- --- --- AP1G1 164 broad.mit.edu 37 16 71807192 71807193 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr16:71807192_71807193delTC ENST00000299980.4 - 4 840_841 c.399_400delGA c.(397-402)gatgfs p.EM133fs AP1G1_ENST00000393512.3_Frame_Shift_Del_p.EM133fs|AP1G1_ENST00000423132.2_Frame_Shift_Del_p.EM133fs|AP1G1_ENST00000569748.1_Frame_Shift_Del_p.EM133fs|AP1G1_ENST00000433195.2_Frame_Shift_Del_p.EM156fs NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 133 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) TCTCTGCACATCTCTGAGGAGC 0.436 25 64 --- --- --- --- BECN1 8678 broad.mit.edu 37 17 40963729 40963730 + Frame_Shift_Del DEL CA CA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:40963729_40963730delCA ENST00000361523.4 - 11 1259_1260 c.1127_1128delTG c.(1126-1128)gfs p.V376fs BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Frame_Shift_Del_p.V376fs NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 376 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TGAACTGCTGCACACAGTCCAG 0.480 11 278 --- --- --- --- AOC2 314 broad.mit.edu 37 17 41002164 41002165 + Frame_Shift_Del DEL AG AG - rs62001928 TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:41002164_41002165delAG ENST00000253799.3 + 4 2097_2098 c.2070_2071delAG c.(2068-2073)actgfs p.TV690fs AOC2_ENST00000452774.2_Frame_Shift_Del_p.TV663fs NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 690 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TCCCAAACACAGTGACTCTGGG 0.540 99 425 --- --- --- --- EFTUD2 9343 broad.mit.edu 37 17 42928730 42928731 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:42928730_42928731delCT ENST00000426333.2 - 28 3127_3128 c.2830_2831delAG c.(2830-2832)tfs p.S944fs EFTUD2_ENST00000402521.3_Frame_Shift_Del_p.S909fs|EFTUD2_ENST00000591382.1_Frame_Shift_Del_p.S944fs|EFTUD2_ENST00000592576.1_Frame_Shift_Del_p.S934fs NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 944 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CACATCTTCACTGAGGCCCTGC 0.505 30 236 --- --- --- --- CTD-2377D24.8 0 broad.mit.edu 37 17 46777563 46777565 + RNA DEL GAA GAA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:46777563_46777565delGAA ENST00000575202.1 + 0 51 AAGGGATGGGGAAGAAGAAGAAG 0.562 2 4 --- --- --- --- BRIP1 83990 broad.mit.edu 37 17 59761289 59761290 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:59761289_59761290delTC ENST00000259008.2 - 20 3384_3385 c.3117_3118delGA c.(3115-3120)gaagfs p.EK1039fs NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1039 Interaction with BRCA1. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.E1039E(2) NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CTTTCCATCTTCTCTGTTTTGA 0.416 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 78 339 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74036529 74036530 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr17:74036529_74036530delTC ENST00000307877.2 - 15 1787_1788 c.1626_1627delGA c.(1624-1629)gaccfs p.ET542fs SRP68_ENST00000355113.5_Frame_Shift_Del_p.ET441fs|SRP68_ENST00000602720.1_Frame_Shift_Del_p.ET203fs|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Frame_Shift_Del_p.ET504fs NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 542 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 GAGGAGGAGGTCTCTGTTTGAT 0.416 27 164 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13363901 13363902 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:13363901_13363902delAG ENST00000360228.5 - 30 4768_4769 c.4769_4770delCT c.(4768-4770)tfs p.S1590fs CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.S1591fs NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1591 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CATAAGCAACAGAAGCCCCATA 0.530 25 125 --- --- --- --- EMR2 30817 broad.mit.edu 37 19 14866667 14866667 + Frame_Shift_Del DEL G G - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:14866667delG ENST00000315576.3 - 13 1666 c.1215delC c.(1213-1215)gtfs p.V405fs EMR2_ENST00000594294.1_Frame_Shift_Del_p.V356fs|EMR2_ENST00000353876.1_Frame_Shift_Del_p.V312fs|EMR2_ENST00000346057.1_Frame_Shift_Del_p.V356fs|EMR2_ENST00000353005.1_Frame_Shift_Del_p.V263fs|EMR2_ENST00000392965.3_Frame_Shift_Del_p.V405fs|EMR2_ENST00000601345.1_Intron|EMR2_ENST00000596991.2_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000595839.1_Frame_Shift_Del_p.V263fs|EMR2_ENST00000392967.2_Intron|EMR2_ENST00000594076.1_Frame_Shift_Del_p.V312fs NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 405 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CTGGAATGGAGACAAGGCCCA 0.587 25 37 --- --- --- --- AKAP8L 26993 broad.mit.edu 37 19 15511842 15511843 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:15511842_15511843delTC ENST00000397410.4 - 6 892_893 c.828_829delGA c.(826-831)aaagfs p.KK276fs AKAP8L_ENST00000595465.1_Frame_Shift_Del_p.KK215fs|AKAP8L_ENST00000595136.1_5'UTR NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 276 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCTTTCTCTTCTTCTTCTTGG 0.604 15 49 --- --- --- --- AP1M1 8907 broad.mit.edu 37 19 16318863 16318864 + Frame_Shift_Del DEL GA GA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:16318863_16318864delGA ENST00000291439.3 + 4 750_751 c.301_302delGA c.(301-303)gfs p.E101fs AP1M1_ENST00000590756.1_Frame_Shift_Del_p.E29fs|AP1M1_ENST00000541844.1_Frame_Shift_Del_p.E29fs|AP1M1_ENST00000429941.2_Frame_Shift_Del_p.E101fs|AP1M1_ENST00000444449.2_Frame_Shift_Del_p.E101fs NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 101 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 GCTGGAGGAGGAGAGCATCCGG 0.559 14 570 --- --- --- --- ACTN4 81 broad.mit.edu 37 19 39214582 39214583 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:39214582_39214583delAG ENST00000252699.2 + 14 1633_1634 c.1557_1558delAG c.(1555-1560)acagfs p.TE519fs ACTN4_ENST00000390009.3_Frame_Shift_Del_p.TE300fs|ACTN4_ENST00000424234.2_Frame_Shift_Del_p.TE129fs NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 519 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ACTAGAAAACAGAGAAGCAGCT 0.629 16 104 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 250 --- --- --- --- CADM4 199731 broad.mit.edu 37 19 44130302 44130305 + Frame_Shift_Del DEL TGCT TGCT - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:44130302_44130305delTGCT ENST00000222374.2 - 5 683_686 c.635_638delAGCA c.(634-639)agfs p.KQ212fs NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 212 Ig-like C2-type 1. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) GTACTGCGTCTGCTTGCTGTGTCC 0.637 17 74 --- --- --- --- ZNF224 7767 broad.mit.edu 37 19 44605024 44605025 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:44605024_44605025delAG ENST00000336976.6 + 4 340_341 c.86_87delAG c.(85-87)cfs p.Q29fs NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 29 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GACCTTGCTCAGAGGAAGCTGT 0.535 9 443 --- --- --- --- ZNF227 7770 broad.mit.edu 37 19 44739863 44739864 + Frame_Shift_Del DEL AG AG - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:44739863_44739864delAG ENST00000313040.7 + 6 1485_1486 c.1280_1281delAG c.(1279-1281)cfs p.Q427fs ZNF227_ENST00000391961.2_Frame_Shift_Del_p.Q376fs|ZNF227_ENST00000589005.1_Frame_Shift_Del_p.Q376fs NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) CACATCCATCAGAGAGTCCACA 0.495 37 143 --- --- --- --- ZNF497 162968 broad.mit.edu 37 19 58868600 58868609 + Frame_Shift_Del DEL GTACGGCTTC GTACGGCTTC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr19:58868600_58868609delGTACGGCTTC ENST00000311044.3 - 3 581_590 c.393_402delGAAGCCGTAC c.(391-402)gafs p.EKPY131fs ZNF497_ENST00000425453.3_Frame_Shift_Del_p.EKPY131fs|CTD-2619J13.8_ENST00000599109.1_RNA NM_198458.2 NP_940860.2 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) CGGGGCACGTGTACGGCTTCTCGCCTGTGT 0.686 15 44 --- --- --- --- ZMYND8 23613 broad.mit.edu 37 20 45850083 45850084 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr20:45850083_45850084delTC ENST00000311275.7 - 20 3491_3492 c.3238_3239delGA c.(3238-3240)afs p.E1080fs ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.E971fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.E1100fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.E1002fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.E1054fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.E1054fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.E1080fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.E1028fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.E1107fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.E1034fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.E1029fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.E1080fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.E948fs Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 1080 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) ATTTAGTGTTTCTGTGTTCACC 0.515 16 59 --- --- --- --- CLTCL1 8218 broad.mit.edu 37 22 19175500 19175502 + In_Frame_Del DEL TCC TCC - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0dd0718d-5ddf-4c59-8c47-0f51303daeb5 0edf2345-54a0-4961-a497-b6f9837519aa g.chr22:19175500_19175502delTCC ENST00000263200.10 - 28 4497_4499 c.4425_4427delGGA c.(4423-4428)gac>ga p.ED1475del CLTCL1_ENST00000353891.5_In_Frame_Del_p.ED1475del|CLTCL1_ENST00000427926.1_In_Frame_Del_p.ED1475del|CLTCL1_ENST00000442042.2_Intron NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1475 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CACCTGATAGTCCTCCTCCTCTG 0.591 T ? ALCL 22 527 --- --- --- ---