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 SSPO 23145 broad.mit.edu 37 7 149502620 149502620 + RNA SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:149502620C>T ENST00000378016.2 + 0 8433 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGATTCATCCTGCCCAGGAG 0.682000 8 53 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065994 9065994 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:9065994G>A ENST00000397910.4 - 3 21655 c.21452C>T c.(21451-21453)tCa>tTa p.S7151L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7153 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 CTTTGGAGGTGAACTGGTTAC 0.507000 19 62 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138679654 138679654 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:138679654C>T ENST00000520602.1 - 21 2485 c.2200G>A c.(2200-2202)Gat>Aat p.D734N MCF2_ENST00000536274.1_Missense_Mutation_p.D635N|MCF2_ENST00000414978.1_Missense_Mutation_p.D734N|MCF2_ENST00000370578.4_Missense_Mutation_p.D819N|MCF2_ENST00000370573.4_Missense_Mutation_p.D674N|MCF2_ENST00000370576.4_Missense_Mutation_p.D674N|MCF2_ENST00000338585.6_Missense_Mutation_p.D690N|MCF2_ENST00000519895.1_Missense_Mutation_p.D750N P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 674 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TGCATAGAATCATTAACTGAC 0.373000 13 20 0 0 1 0 0 DYNAP 284254 broad.mit.edu 37 18 52265336 52265336 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:52265336C>T ENST00000321600.1 + 3 639 c.593C>T c.(592-594)tCc>tTc p.S198F DYNAP_ENST00000585973.1_Missense_Mutation_p.S146F NM_173629.1 NP_775900.1 dynactin associated protein GCCACCACTTCCACAGAACCT 0.453000 17 70 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46656469 46656469 + Missense_Mutation SNP G G A rs138724795 by1000genomes TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:46656469G>A ENST00000544460.1 + 1 858 c.604G>A c.(604-606)Gac>Aac p.D202N TDRD6_ENST00000316081.6_Missense_Mutation_p.D202N NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 202 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GCGGGTGCCCGACAGCCTCTT 0.662000 25 80 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152642893 152642893 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:152642893G>A ENST00000367255.5 - 83 16647 c.16046C>T c.(16045-16047)cCa>cTa p.P5349L SYNE1_ENST00000265368.4_Missense_Mutation_p.P5349L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5278L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5278L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P5022L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5349 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) TTCTATTGTTGGATTCCCTAA 0.378000 HNSCC(10;0.0054) 19 32 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193515 62193515 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:62193515G>A ENST00000467148.1 - 10 6508 c.6439C>T c.(6439-6441)Ccc>Tcc p.P2147S HELZ2_ENST00000427522.2_Missense_Mutation_p.P1578S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CGGCCTCCGGGGATGTTGTAG 0.662000 7 9 0 0 1 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479047 55479047 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:55479047C>T ENST00000342972.1 + 1 510 c.240C>T c.(238-240)ccC>ccT p.P80P NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 80 MAGE. apoptosis central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 CTTCAGTGCCCCGGAGCAATT 0.562000 16 7 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73821101 73821101 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:73821101G>A ENST00000342056.2 + 7 1498 c.1100G>A c.(1099-1101)aGg>aAg p.R367K KCNQ5_ENST00000402622.2_Missense_Mutation_p.R367K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R367K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R367K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R367K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R367K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R367K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R367K NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 367 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GAGAAAAGAAGGAACCCAGCT 0.408000 18 49 0 0 1 0 0 FMR1NB 158521 broad.mit.edu 37 X 147106386 147106386 + Splice_Site SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:147106386G>A ENST00000370467.3 + 5 708 c.632_splice c.e5-1 p.E212_splice NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 212 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ATGTTACAGCGAACCGGCCGA 0.368000 28 22 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841871 5841871 + Silent SNP G G A rs139425458 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:5841871G>A ENST00000317037.2 + 1 328 c.306G>A c.(304-306)caG>caA p.Q102Q TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTGGCCCAGATGTTTTTTG 0.517000 26 53 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44804987 44804987 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:44804987C>T ENST00000309315.4 + 16 2174 c.2051C>T c.(2050-2052)cCc>cTc p.P684L ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P684L|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P658L|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P626L|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P652L NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 684 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AAGCCAGTGCCCGTGAAGCCT 0.642000 10 36 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 4 7 1.23904e-05 1.25587e-05 1 1 0 LRRC4C 57689 broad.mit.edu 37 11 40135956 40135956 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:40135956C>T ENST00000278198.2 - 2 3850 c.1887G>A c.(1885-1887)atG>atA p.M629I LRRC4C_ENST00000528697.1_Missense_Mutation_p.M629I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M629I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M629I Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 629 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) CTTTAGAGTTCATTCGGATCA 0.303000 4 35 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148613 34148613 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:34148613C>T ENST00000346193.3 - 1 1834 c.1783G>A c.(1783-1785)Gtt>Att p.V595I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 595 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 GAGTCAGAAACGCACTCTTTT 0.453000 17 11 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180907804 180907804 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:180907804C>T ENST00000367588.4 + 6 2930 c.2875C>T c.(2875-2877)Ctg>Ttg p.L959L KIAA1614_ENST00000367587.1_Silent_p.L580L NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 959 Ser-rich. NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 AGAGGGAAGCCTGCAGAGGAC 0.567000 4 39 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160526076 160526076 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:160526076C>T ENST00000356956.1 + 48 7584 c.7436C>T c.(7435-7437)tCc>tTc p.S2479F IGF2R_ENST00000475584.1_Intron NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2479 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AAGCTGGTGTCCTTCCATGAC 0.607000 5 20 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390374 158390374 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:158390374G>A ENST00000314902.2 - 1 282 c.283C>T c.(283-285)Ctg>Ttg p.L95L NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GCACAGCCCAGGAAAGAAATG 0.478000 41 65 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946505 144946505 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:144946505G>A ENST00000525985.1 - 2 988 c.917C>T c.(916-918)aCc>aTc p.T306I P58107 EPIPL_HUMAN epiplakin 1 306 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) CAGGTGCTCGGTGGCAGCCTG 0.682000 16 79 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228432260 228432260 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:228432260C>T ENST00000570156.2 + 12 3819 c.3745C>T c.(3745-3747)Ctg>Ttg p.L1249L OBSCN_ENST00000422127.1_Silent_p.L1157L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1157L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 199 Ig-like 12. 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) CTCCTTCCACCTGCACATCAC 0.532000 23 87 0 0 1 0 0 RWDD3 25950 broad.mit.edu 37 1 95710055 95710055 + Missense_Mutation SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:95710055A>G ENST00000429514.2 + 3 535 c.329A>G c.(328-330)gAa>gGa p.E110G RWDD3_ENST00000370202.4_Missense_Mutation_p.E125G|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Missense_Mutation_p.E125G|RP11-57H12.5_ENST00000444665.1_RNA Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 125 RWD. cytoplasm|nucleus protein binding kidney(1)|large_intestine(2)|lung(6)|ovary(1) 10 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) AGTGGCAGTGAAAAGTGTACT 0.428000 8 65 0 0 1 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95206159 95206159 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:95206159C>T ENST00000354268.4 + 23 3031 c.2958C>T c.(2956-2958)tcC>tcT p.S986S SMARCAD1_ENST00000509418.1_Silent_p.S556S|SMARCAD1_ENST00000457823.2_Silent_p.S988S Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 986 Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTGAAGAATCCATGCTAAAAA 0.289000 4 29 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58564906 58564906 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:58564906C>T ENST00000282326.1 + 6 961 c.714C>T c.(712-714)ccC>ccT p.P238P NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 238 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) TCTCGAGCCCCAAGGGTCCAA 0.612000 11 43 0 0 1 0 0 RERG 85004 broad.mit.edu 37 12 15262099 15262099 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:15262099G>A ENST00000256953.2 - 5 881 c.545C>T c.(544-546)tCc>tTc p.S182F RERG_ENST00000538313.1_Missense_Mutation_p.S182F|RERG_ENST00000536465.1_Missense_Mutation_p.S182F|RERG_ENST00000546331.1_Missense_Mutation_p.S163F NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 182 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 ATGCGTGGTGGAGCTGCGTCG 0.532000 25 106 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43904693 43904693 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:43904693C>T ENST00000562955.1 + 47 6550 c.6550C>T c.(6550-6552)Cta>Tta p.L2184L SZT2_ENST00000372442.1_Silent_p.L1342L|SZT2_ENST00000471177.1_3'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2241 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 GGCATGGTACCTACGGCAGAA 0.577000 26 63 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11892470 11892470 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:11892470G>A ENST00000357901.4 + 4 1933 c.1831G>A c.(1831-1833)Gga>Aga p.G611R ZNF441_ENST00000454339.2_Missense_Mutation_p.G544R NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AACTCACACTGGAGAGAAACC 0.393000 13 29 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17537831 17537831 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:17537831C>T ENST00000005226.7 - 15 1216 c.1217G>A c.(1216-1218)gGa>gAa p.G406E USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 ATAAAACCATCCAAAAGCTAT 0.498000 6 5 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50699436 50699436 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:50699436C>T ENST00000404971.1 - 17 4703 c.3364_splice c.e17+1 p.G1122_splice NRXN1_ENST00000401669.2_Splice_Site_p.G1082_splice|NRXN1_ENST00000406859.3_Splice_Site_p.G1082_splice|NRXN1_ENST00000402717.3_Splice_Site_p.G1074_splice|NRXN1_ENST00000406316.2_Splice_Site_p.G1082_splice|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Splice_Site_p.G1074_splice|NRXN1_ENST00000401710.1_Splice_Site_p.V91_splice NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1082 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) AATCTAATACCTTCACATCCT 0.423000 3 10 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197030924 197030924 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:197030924C>T ENST00000367412.1 - 3 484 c.441G>A c.(439-441)agG>agA p.R147R NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 147 Sushi 2. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CATGTTCTTTCCTACAGGTTG 0.358000 17 28 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086161 175086161 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:175086161G>A ENST00000239462.4 + 10 2319 c.2206G>A c.(2206-2208)Gac>Aac p.D736N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 736 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGCCACCATTGACAGGTATGT 0.587000 27 63 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996371 19996371 + Silent SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:19996371T>C ENST00000391403.2 - 1 1507 c.1404A>G c.(1402-1404)gaA>gaG p.E468E NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 468 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) AAGGATCTTTTTCTAAAAGTT 0.378000 17 45 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212989568 212989568 + Missense_Mutation SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:212989568G>T ENST00000342788.4 - 2 453 c.143C>A c.(142-144)gCc>gAc p.A48D ERBB4_ENST00000436443.1_Missense_Mutation_p.A48D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A48D NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 48 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTTGCGCAAGGCTCGGTACTG 0.488000 TSP Lung(8;0.080) 5 29 0.217242 0.217242 1 1 0 PAQR9 344838 broad.mit.edu 37 3 142681053 142681053 + Missense_Mutation SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:142681053T>C ENST00000340634.3 - 1 1125 c.1126A>G c.(1126-1128)Aaa>Gaa p.K376E NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 376 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 GCTCACTTTTTACTGCAGAAT 0.488000 19 110 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10711033 10711033 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:10711033C>T ENST00000377022.3 - 12 3098 c.2781G>A c.(2779-2781)caG>caA p.Q927Q RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.Q927Q NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 927 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) GACTGCGGTCCTGGGAGGCTT 0.706000 5 19 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590199 156590199 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:156590199C>T ENST00000302938.4 - 2 1172 c.1077G>A c.(1075-1077)tcG>tcA p.S359S NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 359 nucleus p.S359S(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCCCCGCCATCGAGGTGGAAG 0.572000 8 37 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586194 50586194 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:50586194G>A ENST00000378182.3 + 2 856 c.118G>A c.(118-120)Ggg>Agg p.G40R TRIM13_ENST00000356017.4_Missense_Mutation_p.G43R|TRIM13_ENST00000457662.2_Missense_Mutation_p.G40R|TRIM13_ENST00000420995.2_Missense_Mutation_p.G40R|TRIM13_ENST00000298772.5_Missense_Mutation_p.G43R|TRIM13_ENST00000478111.1_Intron NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 40 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TATCTTAGAAGGGAGTGTGCG 0.438000 16 42 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18376911 18376911 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:18376911G>A ENST00000392413.3 - 3 1654 c.1439C>T c.(1438-1440)tCa>tTa p.S480L KIAA1683_ENST00000600328.2_Missense_Mutation_p.S480L|KIAA1683_ENST00000600359.2_Missense_Mutation_p.S434L NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 480 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CCTCTGGGATGAAGTCTTGGA 0.612000 20 59 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702080 181702080 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:181702080C>T ENST00000526775.1 + 19 2966 c.2801C>T c.(2800-2802)cCc>cTc p.P934L CACNA1E_ENST00000367570.1_Missense_Mutation_p.P953L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P560L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P953L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P885L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P904L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P934L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 953 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 GAAGCCATGCCCACTGAAGGG 0.602000 24 81 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152382559 152382559 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:152382559C>T ENST00000397345.3 - 150 22276 c.22074G>A c.(22072-22074)aaG>aaA p.K7358K NEB_ENST00000172853.10_Silent_p.K5657K|NEB_ENST00000604864.1_Silent_p.K7358K|NEB_ENST00000603639.1_Silent_p.K7358K|NEB_ENST00000409198.1_Silent_p.K5657K|NEB_ENST00000427231.2_Silent_p.K7358K NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5657 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCAAGTGCTTCTTGACATGGT 0.517000 34 144 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445280 10445280 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:10445280G>A ENST00000326756.3 - 3 3111 c.2673C>T c.(2671-2673)acC>acT p.T891T NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 GTACTTGTTTGGTTTTATTTC 0.388000 11 39 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45753582 45753582 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:45753582G>A ENST00000297323.7 + 20 3370 c.3348G>A c.(3346-3348)ggG>ggA p.G1116G NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 1116 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CAGCAGCTGGGAAGGAGGCTT 0.692000 12 32 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7618866 7618866 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:7618866C>T ENST00000299492.4 + 5 836 c.448C>T c.(448-450)Cag>Tag p.Q150* PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.Q38*|PPFIBP2_ENST00000533792.1_5'UTR NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 150 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GGAAGGACACCAGGTGAAACT 0.522000 3 8 0 0 1 0 0 SBK2 646643 broad.mit.edu 37 19 56041171 56041171 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:56041171C>T ENST00000413299.1 - 4 1013 c.976G>A c.(976-978)Ggg>Agg p.G326R SBK2_ENST00000344158.3_Missense_Mutation_p.G326R NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 326 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CAGGGGCGCCCCAGGTGCTCC 0.731000 11 36 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7505163 7505163 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:7505163C>T ENST00000359920.6 + 1 590 c.337C>T c.(337-339)Cgc>Tgc p.R113C ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 113 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) GCGGGGCTTCCGCGCCGGGGA 0.632000 4 2 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633044 32633044 + Missense_Mutation SNP C C T rs34787787 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:32633044C>T ENST00000242310.4 - 1 2623 c.2534G>A c.(2533-2535)cGa>cAa p.R845Q NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 845 R -> Q (in dbSNP:rs34787787). male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.R845Q(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATCTTCCATTCGTATCCTCCG 0.458000 26 58 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50952732 50952732 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:50952732G>A ENST00000374103.4 - 13 1781 c.1696C>T c.(1696-1698)Ctg>Ttg p.L566L OGDHL_ENST00000432695.1_Silent_p.L357L|OGDHL_ENST00000419399.1_Silent_p.L509L NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 566 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 TTTATATGCAGAATCTTTTTA 0.532000 15 19 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100155067 100155067 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:100155067C>T ENST00000263174.4 + 7 1626 c.1251C>T c.(1249-1251)ttC>ttT p.F417F PALMD_ENST00000605497.1_Silent_p.F417F NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 417 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CAATGATTTTCATGGGGTATC 0.443000 15 25 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250392 1250392 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:1250392C>T ENST00000348261.5 + 7 1188 c.940C>T c.(940-942)Ccc>Tcc p.P314S CACNA1H_ENST00000358590.4_Missense_Mutation_p.P314S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P314S NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 314 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCTGCGCATGCCCTGCACCCT 0.672000 6 14 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10921986 10921986 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:10921986C>T ENST00000298232.7 - 17 1350 c.983G>A c.(982-984)gGa>gAa p.G328E TPTE_ENST00000342420.5_Missense_Mutation_p.G308E|TPTE_ENST00000361285.4_Missense_Mutation_p.G346E|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 346 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AACCATAGTTCCTGTTCTATC 0.328000 16 59 0 0 1 0 0 RBM22 55696 broad.mit.edu 37 5 150080542 150080542 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:150080542C>T ENST00000199814.4 - 1 127 c.6G>A c.(4-6)gcG>gcA p.A2A RBM22_ENST00000540000.1_Silent_p.A2A|RBM22_ENST00000447771.2_Silent_p.A2A NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 2 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGAGAGGTCGCCATCTTGA 0.642000 OREG0016939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 50 0 0 1 0 0 HPSE 10855 broad.mit.edu 37 4 84234394 84234394 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:84234394C>T ENST00000405413.2 - 5 682 c.546G>A c.(544-546)ctG>ctA p.L182L HPSE_ENST00000512196.1_Silent_p.L182L|HPSE_ENST00000311412.5_Silent_p.L182L|HPSE_ENST00000513463.1_Intron NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 182 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) AGATCAAGTCCAGTCCTGAGC 0.428000 6 36 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67926251 67926251 + Missense_Mutation SNP G G A rs140037372 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:67926251G>A ENST00000304363.4 - 11 1915 c.1562C>T c.(1561-1563)cCt>cTt p.P521L NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 ACCTCTCACAGGATTCTGTCT 0.557000 12 71 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159092156 159092156 + Silent SNP G G C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:159092156G>C ENST00000296530.8 - 2 993 c.372C>G c.(370-372)acC>acG p.T124T FAM198B_ENST00000592057.1_Silent_p.T124T|FAM198B_ENST00000585682.1_Silent_p.T124T|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Silent_p.T124T|RP11-597D13.9_ENST00000503611.1_RNA NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 124 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 TGGGCTTCACGGTGCCACGGA 0.627000 15 55 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71003879 71003879 + Silent SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:71003879A>T ENST00000357250.6 - 5 845 c.687T>A c.(685-687)gtT>gtA p.V229V COL9A1_ENST00000370496.3_Silent_p.V229V NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 229 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CTGGAACAGAAACTTGAGGAT 0.383000 23 92 0 0 1 0 0 OR13J1 392309 broad.mit.edu 37 9 35870205 35870205 + Missense_Mutation SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:35870205T>C ENST00000377981.2 - 1 256 c.194A>G c.(193-195)aAc>aGc p.N65S NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) GGTAGAGAGGTTGCCCAGGAA 0.582000 8 14 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47870342 47870342 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:47870342C>T ENST00000328771.4 + 7 2047 c.1698C>T c.(1696-1698)gcC>gcT p.A566A DHX34_ENST00000471451.1_3'UTR NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 566 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) ACCAGGGGGCCCTGGACAGCT 0.642000 8 27 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157488500 157488500 + Silent SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:157488500C>A ENST00000361835.3 - 14 2890 c.2733G>T c.(2731-2733)gtG>gtT p.V911V FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.V911V NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 911 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CATTAGTGTACACTGGTTGCA 0.567000 11 31 4.36969e-10 4.46764e-10 1 1 0 PKDREJ 10343 broad.mit.edu 37 22 46657456 46657456 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:46657456C>T ENST00000253255.5 - 1 1763 c.1764G>A c.(1762-1764)agG>agA p.R588R NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 588 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CGTGCTTATCCCTAAAATTAC 0.368000 20 16 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85672726 85672726 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:85672726G>A ENST00000322366.6 - 36 6290 c.5883C>T c.(5881-5883)ttC>ttT p.F1961F WDFY3_ENST00000295888.4_Silent_p.F1961F Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1961 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) AGTCAAAAACGAACTTTTTAG 0.443000 24 62 0 0 1 0 0 TAC4 255061 broad.mit.edu 37 17 47921434 47921434 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:47921434C>T ENST00000334568.4 - 2 208 c.209G>A c.(208-210)cGa>cAa p.R70Q TAC4_ENST00000436235.1_Missense_Mutation_p.R64Q|TAC4_ENST00000326219.5_Missense_Mutation_p.R64Q|TAC4_ENST00000398154.1_Missense_Mutation_p.R64Q|TAC4_ENST00000352793.2_Missense_Mutation_p.R64Q NM_170685.2 NP_733786.2 Q86UU9 TKN4_HUMAN tachykinin 4 (hemokinin) 70 regulation of blood pressure extracellular region breast(1)|large_intestine(1)|lung(3) 5 ACCTCCCACTCGCTTCCCCAT 0.562000 27 161 0 0 1 0 0 HOXC12 3228 broad.mit.edu 37 12 54348980 54348980 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:54348980G>A ENST00000243103.3 + 1 363 c.267G>A c.(265-267)gaG>gaA p.E89E NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 89 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 CGCGCGTGGAGGACGGCAAGG 0.751000 5 14 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209961817 209961817 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:209961817G>A ENST00000367021.3 - 9 1524 c.1352C>T c.(1351-1353)cCc>cTc p.P451L IRF6_ENST00000542854.1_Missense_Mutation_p.P356L NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 451 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GGGCTGCATGGGCTGCCAGCT 0.517000 HNSCC(57;0.16) 24 52 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63883878 63883878 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:63883878G>A ENST00000246841.3 + 2 1182 c.139G>A c.(139-141)Gag>Aag p.E47K MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 19 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CTTCCTGACGGAGGTCATCGA 0.637000 10 21 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968652 138968652 + Missense_Mutation SNP T T A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:138968652T>A ENST00000288561.8 + 15 3001 c.2752T>A c.(2752-2754)Tct>Act p.S918T UBN2_ENST00000473989.2_Missense_Mutation_p.S1001T NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1001 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CCCCCTGGTTTCTAGGACAGT 0.498000 19 37 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19195320 19195320 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:19195320G>A ENST00000562034.1 + 3 4417 c.619G>A c.(619-621)Gag>Aag p.E207K SYT17_ENST00000355377.2_Missense_Mutation_p.E268K|SYT17_ENST00000568115.1_Missense_Mutation_p.E207K|SYT17_ENST00000562711.2_Missense_Mutation_p.E264K Q9BSW7 SYT17_HUMAN synaptotagmin XVII 268 C2 1. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 CCCCTTCCTGGAGGCCCAGAG 0.547000 41 106 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114476878 114476878 + Missense_Mutation SNP G G C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:114476878G>C ENST00000394779.3 - 13 2197 c.1953C>G c.(1951-1953)atC>atG p.I651M C9orf84_ENST00000374287.3_Missense_Mutation_p.I690M|C9orf84_ENST00000318737.4_Missense_Mutation_p.I690M|C9orf84_ENST00000394777.4_Missense_Mutation_p.I616M NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 690 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TGCTGTTGTAGATATCTTTTG 0.348000 12 13 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169143026 169143026 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:169143026G>A ENST00000393743.3 - 36 5122 c.4831C>T c.(4831-4833)Cta>Tta p.L1611L NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1611 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) ATTGTGCCTAGAGTAACCTGA 0.363000 3 22 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124421922 124421922 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:124421922C>T ENST00000545135.1 - 3 3924 c.628G>A c.(628-630)Gag>Aag p.E210K CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.E227K|CCDC92_ENST00000545891.1_Missense_Mutation_p.E210K Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 227 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) TTCCTGCTCTCTGCCCCGAAT 0.582000 7 61 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61831043 61831043 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:61831043G>A ENST00000280772.1 - 37 9787 c.9596C>T c.(9595-9597)cCa>cTa p.P3199L ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3199 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 CTCGGGAATTGGGCTGGGTTT 0.483000 13 40 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394142 154394142 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:154394142C>T ENST00000435029.4 + 1 883 c.723C>T c.(721-723)ctC>ctT p.L241L NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 241 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTGTAGATCTCGCTGGATCAG 0.433000 24 54 0 0 1 0 0 RUFY4 285180 broad.mit.edu 37 2 218954061 218954061 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:218954061G>A ENST00000374155.3 + 11 2059 c.1649G>A c.(1648-1650)cGa>cAa p.R550Q RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.R530Q Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 530 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ATCTTTGGCCGATTTTCTCGG 0.602000 3 20 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21239448 21239448 + Silent SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:21239448T>C ENST00000233242.1 - 21 3322 c.3195A>G c.(3193-3195)caA>caG p.Q1065Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1065 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATCCGGAATTTGGACTTCAC 0.438000 8 43 0 0 1 0 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718720 1718720 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:1718720C>T ENST00000382160.1 + 1 296 c.245C>T c.(244-246)tCt>tTt p.S82F NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 82 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTGTGGCTCTTGTGGCTGC 0.637000 58 142 0 0 1 0 0 TP53I3 9540 broad.mit.edu 37 2 24300518 24300518 + Missense_Mutation SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:24300518G>T ENST00000313482.4 - 5 792 c.733C>A c.(733-735)Cca>Aca p.P245T TP53I3_ENST00000335934.4_Silent_p.I310I|TP53I3_ENST00000238721.4_Silent_p.I310I|TP53I3_ENST00000407482.1_Missense_Mutation_p.P245T|FAM228B_ENST00000461972.1_Intron Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 0 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGCCTCCTGGATTTCGGTCA 0.572000 10 45 4.68919e-08 4.78239e-08 1 1 0 INHBB 3625 broad.mit.edu 37 2 121106693 121106693 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:121106693G>A ENST00000295228.3 + 2 513 c.467G>A c.(466-468)cGg>cAg p.R156Q NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 156 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity p.R156Q(1) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GCCTCCTCCCGGGTCCGCCTA 0.557000 5 71 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14842327 14842327 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:14842327C>T ENST00000380881.4 - 10 2543 c.1728G>A c.(1726-1728)ggG>ggA p.G576G FREM1_ENST00000422223.2_Silent_p.G575G|FREM1_ENST00000380880.3_Silent_p.G575G Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 575 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) TCAGTCCTGGCCCTGGCTTCT 0.463000 16 52 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940532 22940532 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:22940532G>A ENST00000397104.3 - 5 1905 c.1906C>T c.(1906-1908)Cat>Tat p.H636Y ZNF99_ENST00000596209.1_Missense_Mutation_p.H727Y 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) TCTCCAGTATGAATTATCTCA 0.358000 7 25 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487924 63487924 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:63487924C>T ENST00000377819.5 + 3 2104 c.1950C>T c.(1948-1950)tcC>tcT p.S650S RTN3_ENST00000339997.4_Silent_p.S631S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.S538S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 650 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 ATGATTCCTCCCCAGAGGACC 0.348000 8 26 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34649405 34649405 + Missense_Mutation SNP A A G rs144668484 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:34649405A>G ENST00000537011.1 + 8 3578 c.3196A>G c.(3196-3198)Agt>Ggt p.S1066G NUTM1_ENST00000438749.3_Missense_Mutation_p.S1056G|NUTM1_ENST00000333756.4_Missense_Mutation_p.S1038G NUT midline carcinoma, family member 1 GCATCCCCTCAGTCCTCACCA 0.532000 10 35 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58056015 58056015 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:58056015C>T ENST00000556826.1 - 3 742 c.506G>A c.(505-507)tGg>tAg p.W169* SLC35F4_ENST00000339762.6_Nonsense_Mutation_p.W205*|SLC35F4_ENST00000554729.1_Nonsense_Mutation_p.W46* NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CATAATGTTCCAGTTTGTTGA 0.343000 11 35 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47870341 47870341 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:47870341C>T ENST00000328771.4 + 7 2046 c.1697C>T c.(1696-1698)gCc>gTc p.A566V DHX34_ENST00000471451.1_3'UTR NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 566 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GACCAGGGGGCCCTGGACAGC 0.642000 8 28 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5463050 5463050 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:5463050C>T ENST00000345221.3 - 4 1520 c.966G>A c.(964-966)ctG>ctA p.L322L NLRP1_ENST00000269280.4_Silent_p.L322L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.L322L|NLRP1_ENST00000572272.1_Silent_p.L322L|NLRP1_ENST00000262467.5_Silent_p.L322L|NLRP1_ENST00000354411.3_Silent_p.L322L NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 322 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CTTGGGTATCCAGGCCTGGGC 0.542000 57 171 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6264003 6264003 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:6264003C>T ENST00000400104.3 - 5 362 c.162G>A c.(160-162)tgG>tgA p.W54* L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.W54*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W54*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W54* Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 54 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) AGTACCACTCCCAAGACCATG 0.433000 3 49 0 0 1 0 0 ZNF174 7727 broad.mit.edu 37 16 3454589 3454589 + Missense_Mutation SNP C C G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:3454589C>G ENST00000268655.4 + 2 1151 c.566C>G c.(565-567)cCc>cGc p.P189R ZNF174_ENST00000575752.1_Missense_Mutation_p.P189R|ZNF174_ENST00000344823.5_Missense_Mutation_p.P189R|ZNF174_ENST00000571936.1_Missense_Mutation_p.P189R|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000572544.1_Missense_Mutation_p.P189R NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 189 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 CGGCTGAGCCCCCATCATTGG 0.552000 22 90 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908354 103908354 + Missense_Mutation SNP G G A rs115891405 by1000genomes TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:103908354G>A ENST00000302259.3 + 1 1047 c.804G>A c.(802-804)atG>atA p.M268I PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 268 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGACCATTATGAGCCAGGCTT 0.527000 17 83 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61958248 61958248 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:61958248C>T ENST00000332800.7 - 4 473 c.340G>A c.(340-342)Gag>Aag p.E114K GH2_ENST00000449787.2_Missense_Mutation_p.E99K|GH2_ENST00000456543.2_Missense_Mutation_p.E114K|GH2_ENST00000423893.2_Missense_Mutation_p.E114K NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 114 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 TGCACGGGCTCCAGCCATGAC 0.632000 10 60 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21328004 21328004 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:21328004C>T ENST00000313654.9 + 3 786 c.545C>T c.(544-546)tCa>tTa p.S182L LAMA3_ENST00000399516.3_Missense_Mutation_p.S182L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 182 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCACCTACTCACCATGGCAA 0.373000 8 43 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628811 84628811 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:84628811C>T ENST00000284136.6 - 17 2322 c.2279G>A c.(2278-2280)cGa>cAa p.R760Q SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 760 Arg/Lys-rich (basic). cell differentiation|nervous system development extracellular region|membrane receptor activity p.R760Q(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TCTTCGATTTCGTTTCTTCTT 0.453000 16 41 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189612120 189612120 + Silent SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:189612120T>C ENST00000264731.3 + 14 1961 c.1872T>C c.(1870-1872)tcT>tcC p.S624S TP63_ENST00000382063.4_Silent_p.S539S|TP63_ENST00000456148.1_Silent_p.S526S|TP63_ENST00000354600.5_Silent_p.S530S|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000449992.1_Silent_p.S445S|TP63_ENST00000440651.2_Silent_p.S620S NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 624 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) GCAGTGCCTCTACAGTCAGTG 0.582000 HNSCC(45;0.13) 11 67 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44268883 44268883 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:44268883C>T ENST00000315087.7 - 4 972 c.e4-1 ST8SIA5_ENST00000538168.1_Splice_Site|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Splice_Site NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 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 CAGAGTAGACCTGCCAGGCAG 0.582000 5 29 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101904856 101904856 + Missense_Mutation SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:101904856T>G ENST00000374994.4 + 5 961 c.844T>G c.(844-846)Tat>Gat p.Y282D TGFBR1_ENST00000550253.1_Missense_Mutation_p.Y213D|TGFBR1_ENST00000374990.2_Missense_Mutation_p.Y205D|TGFBR1_ENST00000552516.1_Missense_Mutation_p.Y286D NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 282 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) GGTGTCAGATTATCATGAGCA 0.413000 12 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179538385 179538385 + Silent SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:179538385T>C ENST00000589042.1 - 152 34985 c.34761A>G c.(34759-34761)aaA>aaG p.K11587K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.K11213K|TTN_ENST00000342992.6_Silent_p.K10286K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11401 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K10286N(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) CCTCCACTTTTTTAGGAACAG 0.328000 6 22 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55700682 55700682 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:55700682G>A ENST00000373965.2 - 25 3591 c.3197C>T c.(3196-3198)tCt>tTt p.S1066F PCDH15_ENST00000395445.1_Missense_Mutation_p.S1066F|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1059F|PCDH15_ENST00000409834.1_Missense_Mutation_p.S670F|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1059F|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1037F|PCDH15_ENST00000437009.1_Missense_Mutation_p.S988F|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1022F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1064F|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1059F|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1059F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1059 Cadherin 10. 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) GGCAGCAGCAGAAATTACACC 0.368000 HNSCC(58;0.16) 3 16 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18499677 18499677 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:18499677C>T ENST00000433979.1 + 11 1648 c.1532C>T c.(1531-1533)cCt>cTt p.P511L PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P511L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P511L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P511L NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 511 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) GTAAATGTACCTAGATGCACT 0.443000 7 50 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094702 79094702 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:79094702C>T ENST00000326724.4 - 11 3058 c.3034G>A c.(3034-3036)Gag>Aag p.E1012K AATK_ENST00000417379.1_Missense_Mutation_p.E909K NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1012 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CACTTCTTCTCTGGGCCTGAG 0.667000 4 5 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57080774 57080774 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:57080774G>A ENST00000316981.3 - 4 534 c.55C>T c.(55-57)Cct>Tct p.P19S PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.P19S NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 19 Interacts with KPNA2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TTCCCTGAAGGGACTTTCTGG 0.458000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 13 34 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65427054 65427054 + Missense_Mutation SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:65427054T>C ENST00000519389.1 + 14 2650 c.2471T>C c.(2470-2472)cTg>cCg p.L824P HEPH_ENST00000343002.2_Missense_Mutation_p.L770P|HEPH_ENST00000336279.5_Missense_Mutation_p.L503P|HEPH_ENST00000374727.3_Missense_Mutation_p.L773P|HEPH_ENST00000441993.2_Missense_Mutation_p.L773P|HEPH_ENST00000419594.1_Missense_Mutation_p.L581P Q9BQS7 HEPH_HUMAN hephaestin 770 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TACATTTTCCTGAGCAACAAG 0.458000 11 5 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45388239 45388239 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:45388239G>A ENST00000389039.6 - 30 4252 c.3867C>T c.(3865-3867)ttC>ttT p.F1289F DUOX2_ENST00000603300.1_Silent_p.F1289F Q9NRD8 DUOX2_HUMAN dual oxidase 2 1289 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGGGCCTCTGGAATTGCAGGT 0.582000 10 34 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107911634 107911634 + Silent SNP C C T rs104886391 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:107911634C>T ENST00000328300.6 + 41 3934 c.3690C>T c.(3688-3690)ttC>ttT p.F1230F COL4A5_ENST00000361603.2_Silent_p.F1230F NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1230 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTCACGGTTTCCCTGGTGTGC 0.587000 Alport syndrome with Diffuse Leiomyomatosis 9 10 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510647 48510647 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:48510647C>T ENST00000446524.1 + 1 379 c.303C>T c.(301-303)atC>atT p.I101I NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 AGCTCTTTATCGAGCACATTT 0.428000 19 66 0 0 1 0 0 FOXI2 399823 broad.mit.edu 37 10 129537091 129537091 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:129537091G>A ENST00000388920.4 + 2 858 c.819G>A c.(817-819)ggG>ggA p.G273G NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 273 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) TTTCTTTCGGGAGGCGGCCAC 0.706000 4 9 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 48 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169368 138169368 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:138169368G>A ENST00000409968.1 + 14 3063 c.2885G>A c.(2884-2886)gGc>gAc p.G962D THSD7B_ENST00000272643.3_Missense_Mutation_p.G962D|THSD7B_ENST00000413152.2_Missense_Mutation_p.G931D|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) TGTGGAGAAGGCCTGCGCTTT 0.512000 19 40 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9711175 9711175 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:9711175C>T ENST00000296003.4 + 5 675 c.554_splice c.e5+1 p.R185_splice MTMR14_ENST00000351233.5_Splice_Site_p.R185_splice|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Splice_Site_p.R185_splice NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 185 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) CTGTGCTCTTCGGTCAGTGCT 0.572000 8 31 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63995572 63995572 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:63995572G>A ENST00000370658.5 - 3 283 c.250C>T c.(250-252)Cgc>Tgc p.R84C LGSN_ENST00000370657.4_Missense_Mutation_p.R84C NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 84 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AACTGGAGGCGATTTTTGGCC 0.433000 11 33 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11513721 11513721 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:11513721C>T ENST00000262442.3 + 3 691 c.623C>T c.(622-624)tCt>tTt p.S208F DNAH9_ENST00000454412.2_Missense_Mutation_p.S208F|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.S208F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 208 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) AGCTTGGATTCTATAGATAAG 0.433000 11 26 0 0 1 0 0 RFTN2 130132 broad.mit.edu 37 2 198508932 198508932 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:198508932G>A ENST00000295049.3 - 3 924 c.388C>T c.(388-390)Cta>Tta p.L130L NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 130 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 TCAGAAGTTAGGGGACATTCC 0.428000 12 36 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45292945 45292945 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:45292945C>T ENST00000447098.2 - 16 2419 c.2408G>A c.(2407-2409)gGg>gAg p.G803E PTCH2_ENST00000372192.3_Missense_Mutation_p.G803E NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 803 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) GGTGATGCGCCCAGAAGCCCA 0.622000 Basal Cell Nevus syndrome 28 45 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69978066 69978066 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:69978066C>T ENST00000355303.5 + 11 1444 c.1139C>T c.(1138-1140)cCg>cTg p.P380L RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000538023.1_Missense_Mutation_p.P380L|ANO1_ENST00000316296.5_Missense_Mutation_p.P352L|ANO1_ENST00000531349.1_Missense_Mutation_p.P115L|ANO1_ENST00000398543.2_Missense_Mutation_p.P264L|ANO1_ENST00000530676.1_Missense_Mutation_p.P264L NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 380 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 ACCATGTGCCCGCTTTGCGAC 0.602000 4 14 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592873 156592873 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:156592873C>T ENST00000302938.4 - 1 402 c.307G>A c.(307-309)Ggc>Agc p.G103S NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 103 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCAAACCGGCCCCATCTGACA 0.552000 9 51 0 0 1 0 0 RAE1 8480 broad.mit.edu 37 20 55949909 55949909 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:55949909C>T ENST00000527947.1 + 11 1250 c.1072C>T c.(1072-1074)Ctg>Ttg p.L358L RAE1_ENST00000395840.2_Intron|RAE1_ENST00000371242.2_Intron|RAE1_ENST00000395841.2_Intron P78406 RAE1L_HUMAN ribonucleic acid export 1 0 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2) 21 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) gagccaggctctgggttcaga 0.562000 4 13 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66946460 66946460 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:66946460C>T ENST00000299752.4 - 11 1499 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K CDH16_ENST00000570262.1_Missense_Mutation_p.E356K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K|CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000565796.1_Missense_Mutation_p.E436K NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 436 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ACTGCGACTTCGACTTCACAC 0.592000 10 29 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179427855 179427855 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:179427855C>T ENST00000589042.1 - 326 83228 c.83004G>A c.(83002-83004)gaG>gaA p.E27668E TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.E26027E|TTN_ENST00000342992.6_Silent_p.E25100E|TTN_ENST00000460472.2_Silent_p.E18603E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.E18728E|TTN_ENST00000342175.6_Silent_p.E18795E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26027 Fibronectin type-III 101. 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) GCTCTATCCTCTCCTGAGCAA 0.443000 38 114 0 0 1 0 0 NUDT2 318 broad.mit.edu 37 9 34343217 34343217 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:34343217G>A ENST00000379158.2 + 5 581 c.223G>A c.(223-225)Ggg>Agg p.G75R NUDT2_ENST00000379155.5_Missense_Mutation_p.G75R|NUDT2_ENST00000346365.4_Missense_Mutation_p.G75R NM_001161.4 NP_001152.1 P50583 AP4A_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 2 75 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CATTATTGAGGGGTTCAAAAG 0.522000 39 68 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179449483 179449483 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:179449483C>T ENST00000589042.1 - 310 65109 c.64885G>A c.(64885-64887)Gag>Aag p.E21629K TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19988K|TTN_ENST00000342992.6_Missense_Mutation_p.E19061K|TTN_ENST00000460472.2_Missense_Mutation_p.E12564K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12689K|TTN_ENST00000342175.6_Missense_Mutation_p.E12756K|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19988 Fibronectin type-III 57. 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) AAGATGTACTCCTGGCCTGGG 0.498000 30 174 0 0 1 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20072466 20072466 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:20072466C>T ENST00000276390.2 + 10 1105 c.1065C>T c.(1063-1065)acC>acT p.T355T NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 355 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) CTATTCTAACCATGCCTAATG 0.393000 18 68 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72987748 72987748 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:72987748G>A ENST00000305632.5 - 4 741 c.500C>T c.(499-501)aCc>aTc p.T167I TBL2_ENST00000452475.1_Missense_Mutation_p.T167I|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.T131I NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 167 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CTCCCGCTTGGTCATCTTGAA 0.567000 32 60 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459978 107459978 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:107459978G>A ENST00000409382.3 - 2 1066 c.456C>T c.(454-456)tcC>tcT p.S152S ST6GAL2_ENST00000409087.3_Silent_p.S152S|ST6GAL2_ENST00000361686.4_Silent_p.S152S NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 152 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity 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 GCTCCCCGGGGGAAGGGAATC 0.612000 17 162 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141734624 141734624 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:141734624C>T ENST00000475668.2 + 16 1996 c.1942C>T c.(1942-1944)Ctt>Ttt p.L648F MGAM_ENST00000549489.2_Missense_Mutation_p.L648F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 648 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGAGTTCAACCTTTTTGGCAT 0.502000 8 28 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72183972 72183972 + Missense_Mutation SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:72183972T>G ENST00000337273.5 + 13 1797 c.1371T>G c.(1369-1371)gaT>gaG p.D457E TNPO1_ENST00000454282.1_Missense_Mutation_p.D407E|TNPO1_ENST00000523768.1_Missense_Mutation_p.D407E|TNPO1_ENST00000506351.2_Missense_Mutation_p.D449E NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 457 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) GCCTCTCTGATAAAAAGGCTC 0.448000 13 60 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086790 39086790 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:39086790C>T ENST00000400482.3 - 3 1259 c.670G>A c.(670-672)Gta>Ata p.V224I KCNJ6_ENST00000288309.6_Missense_Mutation_p.V224I NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 224 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) AGGTCCCCTACCCGGAACATC 0.517000 9 60 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21250989 21250989 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:21250989C>T ENST00000298925.5 + 15 1775 c.1622C>T c.(1621-1623)aCc>aTc p.T541I NELL1_ENST00000532434.1_Missense_Mutation_p.T513I|NELL1_ENST00000357134.5_Missense_Mutation_p.T513I|NELL1_ENST00000325319.5_Missense_Mutation_p.T456I Q92832 NELL1_HUMAN NEL-like 1 (chicken) 513 EGF-like 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.T513N(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GGGAACGGGACCATCTGCAGA 0.577000 5 28 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100626688 100626688 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:100626688C>T ENST00000308731.7 - 4 405 c.240_splice c.e4-1 p.R81_splice BTK_ENST00000372880.1_Splice_Site_p.R81_splice NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 81 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTCACCTCTTCTCTGTAATGA 0.383000 Agammaglobulinemia, X-linked 26 18 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121212236 121212236 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:121212236G>A ENST00000392870.2 + 14 1787 c.1458G>A c.(1456-1458)gtG>gtA p.V486V GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Silent_p.V381V NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 486 AGC-kinase C-terminal. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TCTCCACTGTGAAGGGCGTCA 0.607000 7 23 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111590639 111590639 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:111590639C>T ENST00000304987.3 + 10 1580 c.1407C>T c.(1405-1407)gcC>gcT p.A469A SIK2_ENST00000533868.1_3'UTR NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 469 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 CCGCTCATGCCTTTGAGGCAT 0.587000 6 35 0 0 1 0 0 PEPD 5184 broad.mit.edu 37 19 33991859 33991859 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:33991859G>A ENST00000244137.6 - 4 411 c.378C>T c.(376-378)gtC>gtT p.V126V PEPD_ENST00000436370.3_Intron|PEPD_ENST00000397032.4_Silent_p.V126V NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 126 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) CTACGTACTGGACGTCGTCCA 0.552000 40 88 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487278 248487278 + Missense_Mutation SNP A A C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:248487278A>C ENST00000317965.2 - 1 621 c.593T>G c.(592-594)gTt>gGt p.V198G NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 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) GATGAAAATAACCTCTTCAAA 0.433000 89 216 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42264480 42264480 + Nonsense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:42264480A>T ENST00000327628.5 + 16 2513 c.2113A>T c.(2113-2115)Aaa>Taa p.K705* TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Nonsense_Mutation_p.K647* NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 705 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CAGCCACTTGAAATCCACGCC 0.547000 21 40 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:16279248C>T ENST00000343518.6 - 4 1026 c.975G>A c.(973-975)gtG>gtA p.V325V NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 6 154 0 0 1 0 0 SLC35G2 80723 broad.mit.edu 37 3 136573686 136573686 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:136573686G>A ENST00000446465.2 + 2 1012 c.384G>A c.(382-384)cgG>cgA p.R128R RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.R128R NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 128 DUF6 1. Golgi apparatus|integral to membrane TTTCTGATCGGTCTAAAGTTC 0.403000 20 100 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145631424 145631424 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:145631424C>T ENST00000265271.5 + 9 1596 c.1430C>T c.(1429-1431)aCc>aTc p.T477I RBM27_ENST00000506502.1_Intron NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 477 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCAGCCCTACCCCTCTGGTT 0.547000 51 128 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38798333 38798333 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:38798333C>T ENST00000449082.2 - 9 1121 c.1122G>A c.(1120-1122)atG>atA p.M374I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 374 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) CAAAAAAGATCATATAGATTT 0.473000 10 83 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 400004 400004 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:400004G>A ENST00000331563.2 + 6 1387 c.1311G>A c.(1309-1311)aaG>aaA p.K437K NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 437 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) 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) ACCACCTGAAGGACCGCCTGG 0.662000 3 12 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52520388 52520388 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:52520388G>A ENST00000270649.6 - 5 1007 c.463C>T c.(463-465)Cct>Tct p.P155S ZNF614_ENST00000356322.6_Missense_Mutation_p.P155S NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AACTCAACAGGGTTATTTATT 0.318000 11 23 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70534965 70534965 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:70534965G>A ENST00000323786.5 - 9 1112 c.1091C>T c.(1090-1092)aCc>aTc p.T364I NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 360 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) ATTCATCAGGGTGACCTCAGT 0.493000 8 33 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862636 10862636 + RNA SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:10862636G>A ENST00000559480.1 + 0 15 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 ACTGGAATTGGAGGATCCTGT 0.498000 31 352 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43216976 43216976 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:43216976G>A ENST00000255226.6 + 6 1488 c.672G>A c.(670-672)ttG>ttA p.L224L SLC14A2_ENST00000586448.1_Silent_p.L224L NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 224 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTAGTGCCTTGAATTCCATCT 0.507000 70 219 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36479616 36479616 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:36479616C>T ENST00000373191.4 + 11 1722 c.1373C>T c.(1372-1374)gCc>gTc p.A458V AGO3_ENST00000246314.6_Missense_Mutation_p.A224V NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 GCTTGTTTTGCCACACAGAGG 0.418000 14 88 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30706277 30706277 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:30706277A>T ENST00000256246.2 - 1 331 c.257T>A c.(256-258)aTa>aAa p.I86K TEX15_ENST00000523186.1_5'UTR NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 86 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGTCGATTTTATTTCTGAATT 0.393000 18 49 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 624599 624599 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:624599C>T ENST00000321878.5 + 2 684 c.525C>T c.(523-525)ctC>ctT p.L175L PIGQ_ENST00000409527.2_Silent_p.L175L|PIGQ_ENST00000470411.2_Silent_p.L175L|PIGQ_ENST00000026218.5_Silent_p.L175L NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 175 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) GTGAGGTGCTCTTCCGCAGTG 0.706000 4 7 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39038877 39038877 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:39038877C>T ENST00000167588.3 - 2 461 c.420G>A c.(418-420)cgG>cgA p.R140R NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 140 Coil 1B.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) GCAGGACACACCGAGCATTTT 0.313000 9 43 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31948483 31948483 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:31948483C>T ENST00000375331.2 + 7 1120 c.954C>T c.(952-954)ctC>ctT p.L318L STK19_ENST00000375333.2_Silent_p.L322L NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 322 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GGGAACTGCTCCTATCAGAGC 0.612000 18 56 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678595 100678595 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:100678595A>T ENST00000306151.4 + 3 3962 c.3898A>T c.(3898-3900)Aca>Tca p.T1300S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1300 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCCTTTTAACAACTCCTGT 0.468000 53 200 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129785672 129785672 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:129785672G>A ENST00000358825.5 - 17 2652 c.2421C>T c.(2419-2421)ctC>ctT p.L807L PRDM10_ENST00000526082.1_Silent_p.L721L|PRDM10_ENST00000304538.6_Silent_p.L717L|PRDM10_ENST00000528746.1_Silent_p.L777L|PRDM10_ENST00000423662.2_Silent_p.L721L|PRDM10_ENST00000360871.3_Silent_p.L803L NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 807 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CAGCGGGTCGGAGCTTCCGAA 0.607000 32 72 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149515023 149515023 + RNA SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:149515023G>A ENST00000378016.2 + 0 11413 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TTGCTCCCTGGACGACTGCTT 0.697000 11 40 0 0 1 0 0 ZNF174 7727 broad.mit.edu 37 16 3454590 3454590 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:3454590C>T ENST00000268655.4 + 2 1152 c.567C>T c.(565-567)ccC>ccT p.P189P ZNF174_ENST00000575752.1_Silent_p.P189P|ZNF174_ENST00000344823.5_Silent_p.P189P|ZNF174_ENST00000571936.1_Silent_p.P189P|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000572544.1_Silent_p.P189P NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 189 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 GGCTGAGCCCCCATCATTGGG 0.547000 21 90 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681195 125681195 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:125681195G>A ENST00000373656.3 - 2 1092 c.1019C>T c.(1018-1020)tCc>tTc p.S340F ZBTB26_ENST00000373654.1_Missense_Mutation_p.S340F NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 ATCCTGTAAGGAACACTTCTG 0.403000 15 30 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50813875 50813875 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:50813875G>A ENST00000540145.1 + 9 1853 c.1438G>A c.(1438-1440)Gag>Aag p.E480K CYLD_ENST00000564326.1_Missense_Mutation_p.E477K|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.E477K|CYLD_ENST00000569418.1_Missense_Mutation_p.E477K|CYLD_ENST00000398568.2_Missense_Mutation_p.E477K|CYLD_ENST00000311559.9_Missense_Mutation_p.E480K|CYLD_ENST00000427738.3_Missense_Mutation_p.E480K Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 480 Interaction with IKBKG/NEMO.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) TGAAGTTAAGGAGAACCCTCC 0.517000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 19 44 0 0 1 0 0 PPAN 56342 broad.mit.edu 37 19 10224938 10224938 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:10224938C>T ENST00000556468.1 + 13 1936 c.1909C>T c.(1909-1911)Ccg>Tcg p.P637S PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P637S|P2RY11_ENST00000321826.4_Missense_Mutation_p.P217S peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CTGCGGCCTGCCGCTGCTGCT 0.701000 17 78 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26800805 26800805 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:26800805G>A ENST00000444914.3 + 1 495 c.75G>A c.(73-75)ctG>ctA p.L25L SLC13A2_ENST00000545060.1_Silent_p.L25L|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Silent_p.L25L NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 25 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TTCTCCTGCTGCCTCTGCCCA 0.612000 5 24 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7837252 7837252 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:7837252G>A ENST00000054666.6 + 3 220 c.105G>A c.(103-105)aaG>aaA p.K35K VAMP3_ENST00000470357.1_Silent_p.K7K NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 35 v-SNARE coiled-coil homology. cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) ACGTGGACAAGGTTCTGGAAA 0.517000 8 31 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145416734 145416734 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:145416734C>T ENST00000336751.5 + 4 1317 c.1079C>T c.(1078-1080)tCc>tTc p.S360F HFE2_ENST00000357836.5_Missense_Mutation_p.S247F|HFE2_ENST00000475797.1_Missense_Mutation_p.S134F|HFE2_ENST00000497365.1_Missense_Mutation_p.S134F NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 360 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TACTTCCATTCCTGTGTCTTT 0.517000 5 24 0 0 1 0 0 AAGAB 79719 broad.mit.edu 37 15 67528372 67528372 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:67528372G>A ENST00000261880.5 - 4 500 c.396C>T c.(394-396)atC>atT p.I132I AAGAB_ENST00000561452.1_Silent_p.I23I|AAGAB_ENST00000542650.1_Silent_p.I23I NM_001271885.1|NM_001271886.1|NM_024666.3 NP_001258814.1|NP_001258815.1|NP_078942.3 Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin binding protein 132 I -> L (in dbSNP:rs7173826). protein transport cytoplasm breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 AGCCATGTTTGATGCACCATT 0.343000 14 41 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12767424 12767424 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:12767424G>A ENST00000456935.2 - 13 1645 c.1605C>T c.(1603-1605)ttC>ttT p.F535F MAN2B1_ENST00000221363.4_Silent_p.F534F NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 535 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCTTCACAACGAAAACGCCTT 0.587000 12 89 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100912350 100912350 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:100912350G>A ENST00000328766.5 - 5 678 c.225C>T c.(223-225)gtC>gtT p.V75V ARMCX2_ENST00000356824.4_Silent_p.V75V|ARMCX2_ENST00000330154.2_Silent_p.V75V|ARMCX2_ENST00000467416.1_5'UTR NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 75 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CTTCAGCACGGACTGGGGTTG 0.617000 11 16 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101826401 101826401 + RNA SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:101826401C>T ENST00000360035.2 + 0 3395 NR_002216.1 endometrium(2)|lung(8) 10 TAAAAGGAGCCCTTCGATGTC 0.517000 7 4 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26620532 26620532 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:26620532G>A ENST00000256737.3 + 16 2510 c.1658G>A c.(1657-1659)gGa>gAa p.G553E ANO3_ENST00000525139.1_Missense_Mutation_p.G537E|ANO3_ENST00000537978.1_Missense_Mutation_p.G537E|ANO3_ENST00000531568.1_Missense_Mutation_p.G407E NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 553 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCTGTCTCAGGAATATTCTTC 0.368000 6 21 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42875398 42875398 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:42875398C>T ENST00000025301.2 + 8 2691 c.2516C>T c.(2515-2517)cCt>cTt p.P839L NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 839 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ATTTGTTTACCTTCAGAACAC 0.338000 5 28 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295949 20295949 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:20295949C>T ENST00000568211.1 + 1 342 c.342C>T c.(340-342)ctC>ctT p.L114L OR4N2_ENST00000315947.1_Silent_p.L114L Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGGGATTACTCCTTGTTGTGA 0.507000 17 141 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 16049688 16049688 + Splice_Site SNP A A C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:16049688A>C ENST00000268712.3 - 10 1340 c.e10+1 NCOR1_ENST00000395848.1_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 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 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) CAAACTACTCACCGCTGAAAT 0.303000 9 59 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20112485 20112485 + Missense_Mutation SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:20112485A>G ENST00000396085.1 + 28 5943 c.5582A>G c.(5581-5583)aAg>aGg p.K1861R NAV2_ENST00000540292.1_Missense_Mutation_p.K1848R|NAV2_ENST00000527559.2_Missense_Mutation_p.K1846R|NAV2_ENST00000533917.1_Missense_Mutation_p.K922R|NAV2_ENST00000311043.8_Missense_Mutation_p.K922R|NAV2_ENST00000360655.4_Missense_Mutation_p.K1794R|NAV2_ENST00000349880.4_Missense_Mutation_p.K1858R|NAV2_ENST00000396087.3_Missense_Mutation_p.K1917R NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1917 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AAGGAGATGAAGCTGACGGAT 0.517000 4 28 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168352615 168352615 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:168352615C>T ENST00000366806.2 + 30 4702 c.4560C>T c.(4558-4560)gcC>gcT p.A1520A MLLT4_ENST00000400822.3_Silent_p.A1519A|MLLT4_ENST00000392108.3_Silent_p.A1520A|MLLT4_ENST00000392112.1_Silent_p.A1503A|MLLT4_ENST00000447894.2_Silent_p.A1520A|MLLT4_ENST00000351017.4_Silent_p.A1527A|MLLT4_ENST00000344191.4_Silent_p.A1520A P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1520 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AGCGGGACGCCAAGGAGAAGC 0.607000 T MLL AL 10 47 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55698960 55698960 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:55698960C>T ENST00000376350.3 - 14 2509 c.2487G>A c.(2485-2487)ctG>ctA p.L829L PTPRH_ENST00000263434.5_Silent_p.L651L NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 829 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TGTGGCCCACCAGGGAGAGTT 0.597000 11 44 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71472389 71472389 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:71472389G>A ENST00000322937.6 + 13 1389 c.1286G>A c.(1285-1287)gGa>gAa p.G429E AMBN_ENST00000449493.2_Missense_Mutation_p.G414E NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 429 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel p.G429V(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TCCATGCCAGGAAACAAAGCC 0.502000 13 34 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785616 1785616 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:1785616G>A ENST00000539485.1 - 26 3508 c.3275C>T c.(3274-3276)gCc>gTc p.A1092V ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1045V|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1082V O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1082 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 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) ATGGGCGATGGCTTGGACGAA 0.617000 6 33 0 0 1 0 0 ETNK1 55500 broad.mit.edu 37 12 22796732 22796732 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:22796732C>T ENST00000266517.4 + 2 548 c.459C>T c.(457-459)ggC>ggT p.G153G ETNK1_ENST00000335148.3_Silent_p.G153G NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 153 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AACTTATTGGCTGTTACGTGG 0.353000 14 41 0 0 1 0 0 EHD1 10938 broad.mit.edu 37 11 64622857 64622857 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:64622857G>A ENST00000320631.3 - 4 1271 c.1017C>T c.(1015-1017)taC>taT p.Y339Y EHD1_ENST00000359393.2_Silent_p.Y339Y NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 339 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 CAATCTTCTGGTAGATCTCTC 0.557000 OREG0004024 type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 49 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25973054 25973054 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:25973054G>A ENST00000435504.4 - 12 1664 c.1371C>T c.(1369-1371)ttC>ttT p.F457F ASXL2_ENST00000336112.4_Silent_p.F429F|ASXL2_ENST00000404843.1_Silent_p.F197F|ASXL2_ENST00000272341.4_Silent_p.F197F Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGATGTGGAGAAGTTCGGCT 0.483000 56 133 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023862 18023862 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:18023862C>T ENST00000361221.3 + 29 3986 c.3827C>T c.(3826-3828)cCc>cTc p.P1276L ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1049L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1237L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1237L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P979L NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1276 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TGGCAGGTGCCCTTGATGCTA 0.677000 14 40 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127671160 127671160 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:127671160C>T ENST00000508053.1 - 35 4808 c.3834G>A c.(3832-3834)ggG>ggA p.G1278G FBN2_ENST00000262464.4_Silent_p.G1278G|FBN2_ENST00000507835.1_Silent_p.G128G|FBN2_ENST00000508989.1_Silent_p.G1245G P35556 FBN2_HUMAN fibrillin 2 1278 EGF-like 19; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACACGATCTCCCATCTGGCA 0.433000 16 119 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576762 28576762 + Missense_Mutation SNP C C T rs142851621 byFrequency TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:28576762C>T ENST00000434452.1 - 15 2642 c.2488G>A c.(2488-2490)Ggt>Agt p.G830S DSC3_ENST00000360428.4_Missense_Mutation_p.G830S NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 830 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) CTCACTTCACCGAGACGGGGT 0.423000 14 43 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149399 41149399 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:41149399C>T ENST00000263413.3 - 17 2831 c.2567G>A c.(2566-2568)aGc>aAc p.S856N C6_ENST00000337836.5_Missense_Mutation_p.S856N NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 856 C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTCTTTGTGCTGTTGGATGA 0.418000 50 115 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873661 36873661 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:36873661C>T ENST00000429976.2 - 21 7528 c.7281G>A c.(7279-7281)tgG>tgA p.W2427* TRANK1_ENST00000428977.2_Nonsense_Mutation_p.W1877*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.W1877* O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2427 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 TGACATTCTTCCAGAGGCGGG 0.522000 12 73 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135589 156135589 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:156135589C>T ENST00000329476.3 + 2 987 c.498C>T c.(496-498)ttC>ttT p.F166F NPY2R_ENST00000506608.1_Silent_p.F166F NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 166 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GAATCAGCTTCCTGATTATTG 0.532000 6 22 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41236337 41236337 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:41236337C>T ENST00000372652.1 + 10 1425 c.1157C>T c.(1156-1158)cCt>cTt p.P386L NFYC_ENST00000372654.1_Intron|NFYC_ENST00000456393.2_Intron|NFYC_ENST00000440226.3_Intron|NFYC_ENST00000447388.3_Intron|NFYC_ENST00000425457.2_Intron|NFYC_ENST00000372651.1_Intron|NFYC_ENST00000372653.1_Intron|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000308733.5_Missense_Mutation_p.P405L Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 405 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) CTGCATGCCCCTCTCCCAGGG 0.637000 10 39 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136569980 136569980 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:136569980G>A ENST00000264162.2 - 7 2264 c.2254C>T c.(2254-2256)Ctt>Ttt p.L752F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 752 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) TTCCCGGCAAGGTATATTGGA 0.458000 24 54 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 15210680 15210680 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:15210680C>T ENST00000217246.4 + 6 908 c.513C>T c.(511-513)ctC>ctT p.L171L MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Silent_p.L171L NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 171 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) CTCTGAAGCTCGTGAAAGAAA 0.358000 8 26 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13185043 13185043 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:13185043G>A ENST00000379345.2 + 5 483 c.242G>A c.(241-243)aGt>aAt p.S81N PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 222 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TCTGAAGAGAGTCCCTCTGCC 0.577000 21 97 0 0 1 0 0 BCKDHA 593 broad.mit.edu 37 19 41919965 41919965 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:41919965C>T ENST00000269980.2 + 4 755 c.387C>T c.(385-387)tcC>tcT p.S129S CTC-435M10.3_ENST00000540732.1_Silent_p.S163S|BCKDHA_ENST00000595085.1_Silent_p.S163S|BCKDHA_ENST00000457836.2_Silent_p.S107S NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 129 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 GCCGGATCTCCTTCTACATGA 0.612000 18 65 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627863 170627863 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:170627863C>T ENST00000476287.1 + 2 1493 c.1385C>T c.(1384-1386)cCc>cTc p.P462L FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.P474L|FAM120B_ENST00000537664.1_Missense_Mutation_p.P485L NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 462 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CAAGAAGTTCCCATGTATACA 0.483000 44 127 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111958764 111958764 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:111958764G>A ENST00000305815.5 - 12 1621 c.1369C>T c.(1369-1371)Ctt>Ttt p.L457F SLC9C1_ENST00000487372.1_Missense_Mutation_p.L409F NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 457 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TCAAATTTAAGGGCAGAGGCT 0.358000 6 23 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34156132 34156132 + Splice_Site SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:34156132G>A ENST00000257829.3 + 18 2116 c.1911_splice c.e18+1 p.G637_splice NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Splice_Site_p.G565_splice NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 637 N-acetyltransferase. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GATTATCAAGGGGTAATGTGT 0.527000 13 35 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135439873 135439873 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:135439873G>A ENST00000394143.1 + 10 7229 c.6938G>A c.(6937-6939)aGa>aAa p.R2313K GPR112_ENST00000394141.1_Missense_Mutation_p.R2108K|GPR112_ENST00000370652.1_Missense_Mutation_p.R2313K|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.R2108K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2313 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) TTGGAACAGAGAGAAGGACAA 0.333000 26 31 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33769300 33769300 + Missense_Mutation SNP G G C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:33769300G>C ENST00000285013.6 - 5 1479 c.1204C>G c.(1204-1206)Cca>Gca p.P402A SLFN13_ENST00000360502.2_Missense_Mutation_p.P84A|SLFN13_ENST00000542635.1_Missense_Mutation_p.P402A|SLFN13_ENST00000534689.1_Missense_Mutation_p.P84A|SLFN13_ENST00000533791.1_Missense_Mutation_p.P402A|SLFN13_ENST00000526861.1_Missense_Mutation_p.P402A NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 402 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAATGTCCTGGTGGAACTAGA 0.398000 11 22 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125047526 125047526 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:125047526G>A ENST00000522917.1 + 19 2501 c.2295G>A c.(2293-2295)ggG>ggA p.G765G FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.G765G NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 765 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGCCTCCTGGGAAACGACCGG 0.493000 10 41 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785615 1785615 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:1785615G>A ENST00000539485.1 - 26 3509 c.3276C>T c.(3274-3276)gcC>gcT p.A1092A ATP8B3_ENST00000525591.1_Silent_p.A1045A|ATP8B3_ENST00000310127.6_Silent_p.A1082A O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1082 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 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) CATGGGCGATGGCTTGGACGA 0.617000 7 33 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118523903 118523903 + Silent SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:118523903T>C ENST00000336338.5 - 43 6059 c.5994A>G c.(5992-5994)aaA>aaG p.K1998K SPAG17_ENST00000492438.1_5'UTR NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1998 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTCAGGAGATTTTGTTAAAT 0.398000 25 45 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140301735 140301735 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:140301735C>T ENST00000275884.6 - 2 880 c.463G>A c.(463-465)Gat>Aat p.D155N DENND2A_ENST00000537639.1_Missense_Mutation_p.D155N|DENND2A_ENST00000492720.1_Missense_Mutation_p.D155N|DENND2A_ENST00000496613.1_Missense_Mutation_p.D155N Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 155 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GAGAGGGGATCGTTCTGAAAG 0.602000 34 100 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686568 54686568 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:54686568G>A ENST00000540264.2 - 2 1221 c.712C>T c.(712-714)Cct>Tct p.P238S NFE2_ENST00000312156.4_Missense_Mutation_p.P238S|NFE2_ENST00000553070.1_Missense_Mutation_p.P238S|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.P238S Q16621 NFE2_HUMAN nuclear factor, erythroid 2 238 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TTGTCCGTAGGAAAAGGAATC 0.582000 6 32 0 0 1 0 0 SCARB2 950 broad.mit.edu 37 4 77116903 77116903 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:77116903C>T ENST00000264896.2 - 2 581 c.232G>A c.(232-234)Ggg>Agg p.G78R SCARB2_ENST00000452464.2_Missense_Mutation_p.G78R NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 78 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) GGGGTCTCCCCTCTGAGGATC 0.507000 10 34 0 0 1 0 0 PAWR 5074 broad.mit.edu 37 12 80014972 80014972 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:80014972C>T ENST00000328827.4 - 3 904 c.532G>A c.(532-534)Gaa>Aaa p.E178K NM_002583.2 NP_002574.2 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 178 Selective for apoptosis induction in cancer cells (SAC). actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TCATCATCTTCGTACTCATCT 0.333000 12 81 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111958765 111958765 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:111958765G>A ENST00000305815.5 - 12 1620 c.1368C>T c.(1366-1368)gcC>gcT p.A456A SLC9C1_ENST00000487372.1_Silent_p.A408A NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 456 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CAAATTTAAGGGCAGAGGCTG 0.358000 6 23 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62781357 62781357 + RNA SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:62781357G>A ENST00000582986.1 - 0 2493 NR_024386.1 CTTCAGAGTGGGATCAGCAGA 0.607000 3 16 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129337 152129337 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:152129337G>A ENST00000316073.3 - 3 302 c.238C>T c.(238-240)Cag>Tag p.Q80* NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 80 EF-hand 2.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGGACCAACTGGAACACCAAC 0.463000 15 130 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43427389 43427389 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:43427389C>T ENST00000039989.4 + 13 1663 c.1649C>T c.(1648-1650)cCt>cTt p.P550L TTC17_ENST00000299240.6_Missense_Mutation_p.P550L|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 550 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GCCCAAACCCCTGACTGTTCC 0.423000 17 57 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193516 62193516 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:62193516G>A ENST00000467148.1 - 10 6507 c.6438C>T c.(6436-6438)atC>atT p.I2146I HELZ2_ENST00000427522.2_Silent_p.I1577I NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GGCCTCCGGGGATGTTGTAGG 0.662000 7 9 0 0 1 0 0 TCF19 6941 broad.mit.edu 37 6 31130407 31130407 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:31130407C>T ENST00000376257.3 + 4 1705 c.951C>T c.(949-951)ttC>ttT p.F317F TCF19_ENST00000376255.4_Silent_p.F317F|TCF19_ENST00000496421.1_3'UTR NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 317 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 ACGTCTGGTTCCATGTGGCCT 0.637000 13 48 0 0 1 0 0 MLST8 64223 broad.mit.edu 37 16 2257215 2257215 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:2257215C>T ENST00000569417.1 + 6 796 c.442C>T c.(442-444)Cag>Tag p.Q148* MLST8_ENST00000397124.1_Nonsense_Mutation_p.Q148*|MLST8_ENST00000301724.10_Nonsense_Mutation_p.Q148*|MLST8_ENST00000565250.1_Nonsense_Mutation_p.Q148*|MLST8_ENST00000382450.4_Nonsense_Mutation_p.Q147*|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301725.7_Nonsense_Mutation_p.Q167*|MLST8_ENST00000564088.1_Nonsense_Mutation_p.Q148* NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 148 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 CGTGGGTGACCAGAGCGGGGC 0.642000 28 107 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100225925 100225925 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:100225925G>A ENST00000462107.1 - 12 1682 c.1395C>T c.(1393-1395)ttC>ttT p.F465F TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.F465F|TFR2_ENST00000544242.1_Silent_p.F6F Q9UP52 TFR2_HUMAN transferrin receptor 2 465 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCGGGGCCGGAAGCCTGGGG 0.627000 10 51 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5569190 5569190 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:5569190G>A ENST00000331789.5 - 2 290 c.99C>T c.(97-99)tcC>tcT p.S33S NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 33 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GCCCCACGATGGAGGGGAAGA 0.716000 11 35 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137928454 137928454 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:137928454G>A ENST00000409968.1 + 7 1847 c.1669G>A c.(1669-1671)Gga>Aga p.G557R THSD7B_ENST00000272643.3_Missense_Mutation_p.G557R|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.G526R|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B p.G526R(1)|p.G557R(1) 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) CCCTGATCATGGAAAATGTGG 0.522000 11 19 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25572674 25572674 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:25572674C>T ENST00000269141.3 - 9 1712 c.1289G>A c.(1288-1290)cGg>cAg p.R430Q CDH2_ENST00000399380.3_Missense_Mutation_p.R399Q NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 430 Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GATGGCGAACCGTCCAGTAGG 0.527000 18 57 0 0 1 0 0 KATNAL2 83473 broad.mit.edu 37 18 44585982 44585982 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:44585982G>A ENST00000245121.5 + 5 484 c.290G>A c.(289-291)aGa>aAa p.R97K KATNAL2_ENST00000356157.7_Missense_Mutation_p.R169K|KATNAL2_ENST00000592005.1_Intron NM_031303.2 NP_112593.2 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 169 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 CATATATCAAGAATCCGTAAA 0.443000 33 94 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53476659 53476659 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:53476659G>A ENST00000262133.6 + 3 598 c.461G>A c.(460-462)aGa>aAa p.R154K NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 154 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGATTAGAAAGAAACTTCACT 0.373000 7 25 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53686783 53686783 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:53686783G>A ENST00000262135.4 - 15 1909 c.1816C>T c.(1816-1818)Cta>Tta p.L606L RPGRIP1L_ENST00000563746.1_Silent_p.L606L|RPGRIP1L_ENST00000564374.1_Silent_p.L606L|RPGRIP1L_ENST00000379925.3_Silent_p.L606L NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 606 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ATTTCAAATAGATTTTCGCCT 0.378000 10 37 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A rs121913385 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:21971111G>A ENST00000579755.1 - 2 582 c.290C>T c.(289-291)gCa>gTa p.A97V CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 L -> R (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGCGTCGTGCACGGGTCGG 0.741000 H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 9 15 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31294199 31294199 + Silent SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:31294199T>G ENST00000542188.1 - 27 5068 c.4755A>C c.(4753-4755)ccA>ccC p.P1585P TRPM1_ENST00000256552.6_Silent_p.P1568P|TRPM1_ENST00000397795.2_Silent_p.P1546P NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1546 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) ACCTGAGAGATGGGAATCCCA 0.433000 35 89 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144944414 144944414 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:144944414C>T ENST00000525985.1 - 2 3079 c.3008G>A c.(3007-3009)cGg>cAg p.R1003Q P58107 EPIPL_HUMAN epiplakin 1 1003 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) ACCCTCAGCCCGCTTCAGCCT 0.617000 4 15 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158627317 158627317 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:158627317C>T ENST00000368148.3 - 19 2935 c.2755G>A c.(2755-2757)Gaa>Aaa p.E919K SPTA1_ENST00000368147.3_Missense_Mutation_p.E919K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 919 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACAATAGGTTCCTTCTCTCTG 0.468000 8 109 0 0 1 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18602531 18602531 + RNA SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:18602531G>A ENST00000546162.2 + 0 1105 NR_003569.1 GCCCACTGCTGAAGGCCATCT 0.567000 10 46 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273945 10273945 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:10273945G>A ENST00000396573.2 - 3 633 c.324C>T c.(322-324)gcC>gcT p.A108A GRIN2A_ENST00000330684.3_Silent_p.A108A|GRIN2A_ENST00000396575.2_Silent_p.A108A|GRIN2A_ENST00000562109.1_Silent_p.A108A|GRIN2A_ENST00000404927.2_Silent_p.A108A NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 108 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTGGGCTACGGCCTCCTGGT 0.612000 9 83 0 0 1 0 0 ACOT8 10005 broad.mit.edu 37 20 44472223 44472223 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:44472223G>A ENST00000217455.4 - 5 874 c.784C>T c.(784-786)Cac>Tac p.H262Y NM_005469.3 NP_005460.2 O14734 ACOT8_HUMAN acyl-CoA thioesterase 8 262 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding kidney(2)|large_intestine(3)|lung(4)|skin(1) 10 Myeloproliferative disorder(115;0.0122) AAGGGGGCGTGGAACCACATG 0.592000 10 19 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152419175 152419175 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:152419175C>T ENST00000397345.3 - 120 19043 c.18841G>A c.(18841-18843)Gaa>Aaa p.E6281K NEB_ENST00000172853.10_Missense_Mutation_p.E4580K|NEB_ENST00000604864.1_Missense_Mutation_p.E6281K|NEB_ENST00000603639.1_Missense_Mutation_p.E6281K|NEB_ENST00000409198.1_Missense_Mutation_p.E4580K|NEB_ENST00000427231.2_Missense_Mutation_p.E6281K NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6290 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTGGGTTCTTCCAGAAGAGAC 0.498000 4 9 0 0 1 0 0 B3GNT1 11041 broad.mit.edu 37 11 66113976 66113976 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:66113976G>A ENST00000311181.4 - 1 1187 c.1041C>T c.(1039-1041)ttC>ttT p.F347F NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 347 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 TGATTCGGTTGAAGCCGTACT 0.622000 38 102 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15639266 15639266 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:15639266C>T ENST00000378076.3 - 21 2504 c.2151G>A c.(2149-2151)atG>atA p.M717I ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 717 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TTACATTTTCCATCTTGTACT 0.453000 15 37 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27426990 27426990 + Silent SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:27426990A>G ENST00000263980.3 - 12 2831 c.2256T>C c.(2254-2256)gcT>gcC p.A752A SLC9A1_ENST00000545949.1_Silent_p.A413A NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 752 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) CGTCCTCCTCAGCCACCTTTG 0.617000 55 144 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17654374 17654374 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:17654374C>T ENST00000335393.4 + 13 1719 c.1581C>T c.(1579-1581)atC>atT p.I527I FAM129C_ENST00000600871.1_Silent_p.I473I|FAM129C_ENST00000449408.2_Silent_p.I253I|FAM129C_ENST00000595684.1_Silent_p.I527I|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000332386.5_Silent_p.I527I|FAM129C_ENST00000300971.2_Silent_p.I527I|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000599164.1_Silent_p.I496I|FAM129C_ENST00000601861.1_Silent_p.I496I NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 527 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GGAGGTTCATCCGAGGCTGGG 0.557000 4 41 0 0 1 0 0 KIAA1737 85457 broad.mit.edu 37 14 77576282 77576282 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:77576282C>T ENST00000361786.2 + 3 581 c.264C>T c.(262-264)acC>acT p.T88T KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.T88T|RP11-463C8.4_ENST00000557752.1_Intron NM_033426.2 NP_219494.2 Q9C0C6 K1737_HUMAN KIAA1737 88 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) CCTTCCCTACCCTGTCTCCCA 0.493000 19 33 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222301209 222301209 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:222301209G>A ENST00000281821.2 - 13 2297 c.2256C>T c.(2254-2256)atC>atT p.I752I EPHA4_ENST00000409854.1_Silent_p.I752I|EPHA4_ENST00000409938.1_Silent_p.I752I|EPHA4_ENST00000392071.4_Silent_p.I701I NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 752 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TGTTCACCAGGATGTTCCGTG 0.502000 13 50 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30702583 30702583 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:30702583G>A ENST00000256246.2 - 1 4025 c.3951C>T c.(3949-3951)ttC>ttT p.F1317F NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1317 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GGCCCATAAGGAAGTTTCCTG 0.373000 19 79 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524991 187524991 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:187524991G>A ENST00000441802.2 - 19 10898 c.10689C>T c.(10687-10689)gtC>gtT p.V3563V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3563 Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCTTCCCAATGACGCCACCTG 0.493000 HNSCC(5;0.00058) 7 14 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180907803 180907803 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:180907803C>T ENST00000367588.4 + 6 2929 c.2874C>T c.(2872-2874)agC>agT p.S958S KIAA1614_ENST00000367587.1_Silent_p.S579S NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 958 Ser-rich. NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CAGAGGGAAGCCTGCAGAGGA 0.567000 4 38 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27736695 27736695 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:27736695G>A ENST00000430629.2 - 8 1045 c.830C>T c.(829-831)cCa>cTa p.P277L WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 277 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) GTTGTCCACTGGGTAACTAAA 0.493000 3 19 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 400005 400005 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:400005G>A ENST00000331563.2 + 6 1388 c.1312G>A c.(1312-1314)Gac>Aac p.D438N NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 438 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) 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) CCACCTGAAGGACCGCCTGGC 0.662000 3 12 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107869502 107869502 + Missense_Mutation SNP G G A rs104886216 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:107869502G>A ENST00000328300.6 + 36 3413 c.3169G>A c.(3169-3171)Gga>Aga p.G1057R COL4A5_ENST00000361603.2_Missense_Mutation_p.G1057R NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1057 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGGCTCCCCAGGATTACCTGG 0.448000 Alport syndrome with Diffuse Leiomyomatosis 23 17 0 0 1 0 0 ZNF317 57693 broad.mit.edu 37 19 9272036 9272036 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:9272036C>T ENST00000247956.6 + 7 2020 c.1715C>T c.(1714-1716)tCc>tTc p.S572F ZNF317_ENST00000360385.3_Missense_Mutation_p.S540F NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 GACCACTCATCCCTCAGGAGC 0.567000 15 40 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108380723 108380723 + Splice_Site SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:108380723G>A ENST00000361582.3 + 20 2429 c.e20-1 DZIP3_ENST00000463306.1_Splice_Site NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GTGCTCAATAGGGCTCAGCTG 0.353000 6 18 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826784 46826784 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:46826784C>T ENST00000283296.7 - 17 3144 c.2856G>A c.(2854-2856)acG>acA p.T952T GPR116_ENST00000265417.7_Silent_p.T952T|GPR116_ENST00000456426.2_Silent_p.T810T|GPR116_ENST00000362015.4_Silent_p.T952T|GPR116_ENST00000545669.1_Silent_p.T381T NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 952 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGACACACTTCGTTTCGCCGC 0.483000 9 62 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250393 1250393 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:1250393C>T ENST00000348261.5 + 7 1189 c.941C>T c.(940-942)cCc>cTc p.P314L CACNA1H_ENST00000358590.4_Missense_Mutation_p.P314L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P314L NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 314 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CTGCGCATGCCCTGCACCCTG 0.672000 7 14 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91686137 91686137 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:91686137A>T ENST00000375835.4 - 5 1066 c.760T>A c.(760-762)Tcc>Acc p.S254T SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 254 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 GAGGCGAAGGAGATGGACCGC 0.498000 8 18 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57922304 57922304 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:57922304G>A ENST00000355673.3 + 10 3137 c.2781G>A c.(2779-2781)aaG>aaA p.K927K MBD6_ENST00000431731.2_Silent_p.K927K NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 927 chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CTGAGCCCAAGGATCCACCCC 0.587000 7 62 0 0 1 0 0 SNPH 9751 broad.mit.edu 37 20 1286517 1286517 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:1286517C>T ENST00000381867.1 + 7 2078 c.1436C>T c.(1435-1437)cCg>cTg p.P479L SNPH_ENST00000381873.3_Missense_Mutation_p.P435L O15079 SNPH_HUMAN syntaphilin 435 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GTGGTGGTGCCGGCCGTGCCC 0.677000 8 5 0 0 1 0 0 ETFA 2108 broad.mit.edu 37 15 76523697 76523697 + Silent SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:76523697A>G ENST00000557943.1 - 10 939 c.859T>C c.(859-861)Tta>Cta p.L287L ETFA_ENST00000559602.1_Silent_p.L183L|ETFA_ENST00000433983.2_Silent_p.L238L|ETFA_ENST00000560726.1_Silent_p.L27L NM_000126.3 NP_000117.1 P13804 ETFA_HUMAN electron-transfer-flavoprotein, alpha polypeptide 287 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 ATCCCAGCTAAATGTTGGATG 0.313000 10 18 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101091709 101091709 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:101091709G>A ENST00000361708.2 - 16 1536 c.1177C>T c.(1177-1179)Cca>Tca p.P393S NXF5_ENST00000537026.1_Intron|NXF5_ENST00000473265.2_Intron Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 393 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 CACTAACCTGGAATTGCGGCC 0.517000 26 30 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36269778 36269778 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:36269778G>A ENST00000394571.2 + 6 916 c.916G>A c.(916-918)Gga>Aga p.G306R PNPLA1_ENST00000312917.5_Missense_Mutation_p.G220R|PNPLA1_ENST00000388715.3_Missense_Mutation_p.G211R NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 306 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CAGTCTGGAAGGAGCCACACA 0.587000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 43 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58564905 58564905 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:58564905C>T ENST00000282326.1 + 6 960 c.713C>T c.(712-714)cCc>cTc p.P238L NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 238 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) ATCTCGAGCCCCAAGGGTCCA 0.617000 11 41 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47870327 47870327 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:47870327C>T ENST00000328771.4 + 7 2032 c.1683C>T c.(1681-1683)ctC>ctT p.L561L DHX34_ENST00000471451.1_3'UTR NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 561 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TCCTCTACCTCCGGGACCAGG 0.627000 12 27 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76395371 76395371 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:76395371G>A ENST00000357063.3 + 15 3682 c.2422G>A c.(2422-2424)Gat>Aat p.D808N LMO7_ENST00000465261.2_Missense_Mutation_p.D523N|LMO7_ENST00000321797.8_Missense_Mutation_p.D523N|LMO7_ENST00000341547.4_Missense_Mutation_p.D474N|LMO7_ENST00000526202.1_Missense_Mutation_p.D373N|LMO7_ENST00000377534.3_Missense_Mutation_p.D808N Q8WWI1 LMO7_HUMAN LIM domain 7 808 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTCTTTTGATGATGTGCTGGA 0.443000 8 20 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 4 6 0 0 1 0 0 B3GAT3 26229 broad.mit.edu 37 11 62384058 62384058 + Missense_Mutation SNP G G C rs149098151 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:62384058G>C ENST00000531383.1 - 4 1035 c.829C>G c.(829-831)Cgg>Ggg p.R277G B3GAT3_ENST00000534026.1_Missense_Mutation_p.R277G|B3GAT3_ENST00000265471.5_Missense_Mutation_p.R277G O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 277 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 AGGTGGCCCCGGGGAGCGGTG 0.612000 9 47 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683425 100683425 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:100683425C>T ENST00000306151.4 + 3 8792 c.8728C>T c.(8728-8730)Cct>Tct p.P2910S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2910 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGTTCTTCTCCTACAACTGC 0.507000 56 195 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169367 138169367 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:138169367G>A ENST00000409968.1 + 14 3062 c.2884G>A c.(2884-2886)Ggc>Agc p.G962S THSD7B_ENST00000272643.3_Missense_Mutation_p.G962S|THSD7B_ENST00000413152.2_Missense_Mutation_p.G931S|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) ATGTGGAGAAGGCCTGCGCTT 0.512000 19 42 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10323480 10323480 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:10323480G>A ENST00000403437.2 - 3 159 c.65C>T c.(64-66)tCa>tTa p.S22L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 22 Myosin head-like. 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 CTCCTTTTCTGATTTTCGAAG 0.483000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 27 73 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862782 84862782 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:84862782G>A ENST00000403245.3 - 23 3225 c.3111C>T c.(3109-3111)gcC>gcT p.A1037A KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.A961A NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1037 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TGATCTGATGGGCTTCCTTGA 0.403000 7 26 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906319 13906319 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:13906319G>A ENST00000279593.3 - 3 1151 c.942C>T c.(940-942)atC>atT p.I314I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 314 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGGCTCAGGGATGAAGCTGT 0.488000 15 51 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38138100 38138100 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:38138100G>A ENST00000308059.6 + 15 2233 c.2212G>A c.(2212-2214)Gat>Aat p.D738N DLEC1_ENST00000452631.2_Missense_Mutation_p.D738N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D738N Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 738 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CTACTCTGTGGATGATGTGAT 0.517000 16 65 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370307 126370307 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:126370307G>A ENST00000394329.3 + 9 8149 c.8136G>A c.(8134-8136)atG>atA p.M2712I FAT4_ENST00000335110.5_Missense_Mutation_p.M1010I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2712 Cadherin 26. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATGGCAACATGGAAAATAGTT 0.373000 23 50 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425644 49425644 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:49425644G>A ENST00000301067.7 - 39 12843 c.12844C>T c.(12844-12846)Cga>Tga p.R4282* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCTGAGGTCGAGGCCCTGCC 0.677000 3 28 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671831 45671831 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:45671831C>T ENST00000308064.2 - 4 1313 c.643G>A c.(643-645)Gac>Aac p.D215N NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 215 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCGCGCAGGTCGTTCACCTCG 0.677000 11 49 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494764 55494764 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:55494764C>T ENST00000543010.1 + 6 1841 c.1698C>T c.(1696-1698)gcC>gcT p.A566A NLRP2_ENST00000427260.2_Silent_p.A543A|NLRP2_ENST00000339757.7_Silent_p.A544A|NLRP2_ENST00000537859.1_Silent_p.A544A|NLRP2_ENST00000538819.1_Silent_p.A542A|NLRP2_ENST00000391721.4_Silent_p.A542A|NLRP2_ENST00000448584.2_Silent_p.A566A|NLRP2_ENST00000263437.6_Silent_p.A563A NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 566 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGAAGAGAGCCAAGGAGTTGG 0.532000 19 31 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82536106 82536106 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:82536106G>A ENST00000313010.3 - 9 1527 c.1333C>T c.(1333-1335)Ctg>Ttg p.L445L PRCP_ENST00000393399.2_Silent_p.L466L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Silent_p.L340L NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 445 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 ACTGCAACCAGAGTGTCTGTG 0.468000 5 26 0 0 1 0 0 ADPGK 83440 broad.mit.edu 37 15 73048760 73048760 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:73048760G>A ENST00000311669.8 - 5 765 c.672C>T c.(670-672)ccC>ccT p.P224P ADPGK_ENST00000567733.1_Intron NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 224 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 GGTTGGCATGGGGAGCTTTTA 0.532000 4 33 0 0 1 0 0 S100A12 6283 broad.mit.edu 37 1 153346314 153346314 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:153346314G>A ENST00000368737.3 - 3 385 c.268C>T c.(268-270)Cac>Tac p.H90Y NM_005621.1 NP_005612.1 P80511 S10AC_HUMAN S100 calcium binding protein A12 90 defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process cytosol|extracellular region|insoluble fraction|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding endometrium(1)|kidney(1)|skin(2) 4 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) Amlexanox(DB01025) TACTCTTTGTGGGTGTGGTAA 0.488000 24 39 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87060865 87060865 + Missense_Mutation SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:87060865G>T ENST00000265723.4 - 15 1859 c.1748C>A c.(1747-1749)aCc>aAc p.T583N ABCB4_ENST00000545634.1_Missense_Mutation_p.T583N|ABCB4_ENST00000359206.3_Missense_Mutation_p.T583N|ABCB4_ENST00000453593.1_Missense_Mutation_p.T583N|ABCB4_ENST00000358400.3_Missense_Mutation_p.T583N NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 583 ABC transporter 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CACAATGGTGGTCCGGCCTTC 0.473000 8 81 0.000157383 0.000159128 1 1 0 ZBTB20 26137 broad.mit.edu 37 3 114058043 114058043 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:114058043G>A ENST00000462705.1 - 12 2637 c.1816C>T c.(1816-1818)Cga>Tga p.R606* ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.R606*|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.R606*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.R606*|ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.R679*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.R606*|ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.R606* NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCCACGTGTCGCTCCAGGAGG 0.652000 6 62 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106236190 106236190 + RNA SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:106236190G>A ENST00000390551.2 - 0 613 CGTACCACTTGAACTGGACCT 0.597000 27 145 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346880 48346880 + Missense_Mutation SNP C C T rs144142268 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:48346880C>T ENST00000319856.4 + 1 409 c.388C>T c.(388-390)Cat>Tat p.H130Y NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 103 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 CTTTGGAGCTCATTTTTTGGG 0.458000 32 167 0 0 1 0 0 DUXA 503835 broad.mit.edu 37 19 57670630 57670630 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:57670630C>T ENST00000554048.2 - 3 196 c.197G>A c.(196-198)cGa>cAa p.R66Q NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 66 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CCTAGCTCTTCGATTCTGAAA 0.423000 16 50 0 0 1 0 0 STK17B 9262 broad.mit.edu 37 2 197002303 197002303 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:197002303G>A ENST00000263955.4 - 8 1273 c.987C>T c.(985-987)tcC>tcT p.S329S STK17B_ENST00000409228.1_Silent_p.S329S NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b 329 apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) TTCCATTACAGGAGGATTTAG 0.418000 6 58 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976856 106976856 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:106976856G>A ENST00000369701.3 + 19 2937 c.2710G>A c.(2710-2712)Gct>Act p.A904T SORCS3_ENST00000369699.4_Missense_Mutation_p.A190T NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 904 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCAGACACAGCTGTCCTCTT 0.507000 10 33 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19426979 19426979 + Missense_Mutation SNP G G C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:19426979G>C ENST00000375267.2 - 89 13115 c.13112C>G c.(13111-13113)cCg>cGg p.P4371R UBR4_ENST00000375224.1_Missense_Mutation_p.P78R|UBR4_ENST00000375254.3_Missense_Mutation_p.P4371R|UBR4_ENST00000375217.2_Missense_Mutation_p.P4364R|UBR4_ENST00000543981.1_Missense_Mutation_p.P62R|UBR4_ENST00000375226.2_Missense_Mutation_p.P4347R Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4371 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCTGCTATACGGGTTCCCAGG 0.517000 14 78 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212683 26212683 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:26212683C>T ENST00000379034.1 + 2 869 c.720C>T c.(718-720)acC>acT p.T240T NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 240 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TCAACAGAACCTCCCAACATT 0.498000 14 33 0 0 1 0 0 RPL22 6146 broad.mit.edu 37 1 6253009 6253009 + Nonsense_Mutation SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:6253009C>A ENST00000234875.4 - 3 261 c.223G>T c.(223-225)Gag>Tag p.E75* RPL22_ENST00000497965.1_Nonsense_Mutation_p.E42*|RPL22_ENST00000484532.1_Nonsense_Mutation_p.E42* NM_000983.3 NP_000974.1 P35268 RL22_HUMAN ribosomal protein L22 75 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) AAAGGCACCTCGGATGTCACG 0.567000 T RUNX1 """AML, CML""" 28 47 2.46105e-21 2.55439e-21 1 1 0 VCAN 1462 broad.mit.edu 37 5 82838004 82838004 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:82838004C>T ENST00000265077.3 + 8 9747 c.9182C>T c.(9181-9183)tCc>tTc p.S3061F VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.S2074F|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3061 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.S3061F(1) 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) CCACCATTTTCCCTTCTGGAG 0.423000 5 61 0 0 1 0 0 CCDC103 388389 broad.mit.edu 37 17 42980073 42980073 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:42980073C>T ENST00000417826.2 + 4 712 c.617C>T c.(616-618)tCc>tTc p.S206F CCDC103_ENST00000410006.2_Missense_Mutation_p.S206F|FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 206 endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) AACCCCAGATCCGTGAAGGAG 0.627000 4 36 0 0 1 0 0 PRKACB 5567 broad.mit.edu 37 1 84668480 84668480 + Missense_Mutation SNP T T A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:84668480T>A ENST00000370689.2 + 8 1021 c.757T>A c.(757-759)Tct>Act p.S253T PRKACB_ENST00000370682.3_Missense_Mutation_p.S257T|PRKACB_ENST00000370685.3_Missense_Mutation_p.S300T|PRKACB_ENST00000370680.1_Missense_Mutation_p.S259T|PRKACB_ENST00000394838.2_Missense_Mutation_p.S260T|PRKACB_ENST00000394839.2_Missense_Mutation_p.S223T|PRKACB_ENST00000370688.3_Missense_Mutation_p.S253T NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 253 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) AAAGATTGTTTCTGGAAAGGT 0.328000 11 27 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44268882 44268882 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:44268882C>T ENST00000315087.7 - 4 972 c.311_splice c.e4-1 p.K104_splice ST8SIA5_ENST00000538168.1_Splice_Site_p.K140_splice|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Splice_Site_p.K73_splice NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 104 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 ACAGAGTAGACCTGCCAGGCA 0.587000 5 30 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003979 34003979 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:34003979G>A ENST00000382491.3 - 28 4031 c.3907C>T c.(3907-3909)Cca>Tca p.P1303S SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1350S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1389S|SYNJ1_ENST00000382499.2_3'UTR NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1350 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 TTTGGGTCTGGGGTGGGAACA 0.438000 9 21 0 0 1 0 0 NEUROD4 58158 broad.mit.edu 37 12 55421006 55421006 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:55421006G>A ENST00000242994.3 + 2 1161 c.783G>A c.(781-783)ggG>ggA p.G261G NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 261 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 GCATCAGTGGGAACTTCTCCT 0.502000 19 92 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100692836 100692836 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:100692836G>A ENST00000268070.4 - 10 1559 c.1454C>T c.(1453-1455)aCc>aTc p.T485I NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 485 Disintegrin. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TCTGCAGAAGGTGGCATTCAT 0.612000 7 55 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890950 32890950 + RNA SNP A A G rs151263854 by1000genomes TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:32890950A>G ENST00000330048.5 - 0 3016 NR_003083.2 ATACACCCAGACCACCACCAC 0.637000 3 32 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46930495 46930495 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:46930495C>T ENST00000264318.3 - 9 2394 c.1412G>A c.(1411-1413)gGa>gAa p.G471E NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 471 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 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGAAGCAGATCCAACTGAAGC 0.473000 6 47 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128867249 128867249 + Missense_Mutation SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:128867249T>G ENST00000375990.3 + 5 781 c.378T>G c.(376-378)ttT>ttG p.F126L UGGT1_ENST00000259253.6_Missense_Mutation_p.F150L Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 150 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GTAATTCGTTTTTTTCAGTGC 0.373000 9 59 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348605 10348605 + Silent SNP G G A rs149221663 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:10348605G>A ENST00000255381.2 - 36 5354 c.5244C>T c.(5242-5244)atC>atT p.I1748I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1748 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 CTTCCTGGACGATGTCCTCCA 0.468000 26 78 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37464744 37464744 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:37464744G>A ENST00000299824.1 + 2 365 c.176G>A c.(175-177)gGc>gAc p.G59D PPP1R16B_ENST00000373331.2_Missense_Mutation_p.G59D NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 59 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) AGCACGGGCGGCCGCCGCAAG 0.672000 12 29 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135206234 135206234 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:135206234G>A ENST00000409645.1 + 17 2294 c.2042G>A c.(2041-2043)tGc>tAc p.C681Y MGAT5_ENST00000281923.2_Missense_Mutation_p.C681Y Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 681 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) AAGGTGACCTGCCAAAGCTCA 0.537000 4 176 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81591769 81591769 + Silent SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:81591769T>G ENST00000356860.3 - 35 3161 c.2823A>C c.(2821-2823)cgA>cgC p.R941R CACNA2D1_ENST00000356253.5_Silent_p.R953R|CACNA2D1_ENST00000535308.1_Silent_p.R153R NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 953 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CCTCAAGGAGTCGTGGAAAGG 0.328000 5 7 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935695 30935695 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:30935695C>T ENST00000355537.3 + 2 1373 c.1226C>T c.(1225-1227)cCc>cTc p.P409L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 409 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) CCCAGCGACCCCGAGGTGCCT 0.627000 17 43 0 0 1 0 0 GSTM4 2948 broad.mit.edu 37 1 110201639 110201639 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:110201639C>T ENST00000369833.1 + 5 1265 c.351C>T c.(349-351)ttC>ttT p.F117F GSTM4_ENST00000326729.5_Silent_p.F158F|GSTM4_ENST00000369836.4_Silent_p.F158F|GSTM4_ENST00000336075.5_Silent_p.F97F|GSTM4_ENST00000495742.1_3'UTR Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 158 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) TTGTAGATTTCCTCGCCTATG 0.488000 96 266 0 0 1 0 0 PDLIM5 10611 broad.mit.edu 37 4 95508169 95508169 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:95508169C>T ENST00000380180.3 + 9 792 c.641C>T c.(640-642)cCc>cTc p.P214L PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P194L|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P194L|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000317968.4_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P214L|PDLIM5_ENST00000450793.1_Missense_Mutation_p.P214L|PDLIM5_ENST00000514743.1_Intron NM_001011515.2 NP_001011515.1 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 0 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GTCTTTAGTCCCAAATACACA 0.393000 5 13 0 0 1 0 0 SRSF2 6427 broad.mit.edu 37 17 74732963 74732963 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:74732963G>A ENST00000392485.2 - 1 452 c.280C>T c.(280-282)Cgc>Tgc p.R94C MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R94C|SRSF2_ENST00000359995.5_Missense_Mutation_p.R94C NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 94 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity p.R94_P95insR(1) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 TCCGGGGGGCGGCCGTAGCGC 0.726000 Mis """MDS, CLL""" 19 51 0 0 1 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805786 169805786 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:169805786G>A ENST00000274629.4 - 4 940 c.498C>T c.(496-498)ttC>ttT p.F166F KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 166 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) CGGTCAGCAGGAAGGTGGGCC 0.607000 14 40 0 0 1 0 0 XXYLT1 152002 broad.mit.edu 37 3 194790815 194790815 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:194790815C>T ENST00000310380.6 - 4 919 c.811G>A c.(811-813)Gag>Aag p.E271K XXYLT1_ENST00000429994.1_Missense_Mutation_p.E125K|XXYLT1_ENST00000355729.4_Missense_Mutation_p.E68K|XXYLT1_ENST00000356740.5_Missense_Mutation_p.E65K|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.E68K NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 271 integral to membrane transferase activity, transferring glycosyl groups TGGGGGTTCTCATGGCGGAAC 0.672000 16 30 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418834 105418834 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:105418834G>A ENST00000333244.5 - 7 3073 c.2954C>T c.(2953-2955)tCc>tTc p.S985F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 985 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) GTCGGCCAGGGACAGGTCCCC 0.612000 71 248 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38738864 38738864 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:38738864C>T ENST00000449082.2 - 27 5846 c.5847G>A c.(5845-5847)atG>atA p.M1949I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1949 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) CAATCAGCTCCATACTGGTGG 0.473000 3 43 0 0 1 0 0 TRAT1 50852 broad.mit.edu 37 3 108568024 108568024 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:108568024G>A ENST00000295756.6 + 5 456 c.226G>A c.(226-228)Gaa>Aaa p.E76K TRAT1_ENST00000426646.1_Missense_Mutation_p.E39K NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 76 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ACCAATGGATGAAAATTGCTA 0.343000 8 37 0 0 1 0 0 ANG 283 broad.mit.edu 37 14 21161793 21161793 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:21161793G>A ENST00000336811.6 + 2 670 c.70G>A c.(70-72)Gct>Act p.A24T RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000304704.4_5'UTR|ANG_ENST00000397990.4_Missense_Mutation_p.A24T|RP11-903H12.3_ENST00000554286.1_lincRNA|AL163636.6_ENST00000553909.1_RNA NM_001145.4 NP_001136.1 P03950 ANGI_HUMAN angiogenin, ribonuclease, RNase A family, 5 24 actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1) 5 all_cancers(95;0.00387) all_cancers(140;0.196)|all_epithelial(140;0.156) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07) ACCGACCCTGGCTCAGGATAA 0.567000 21 41 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189898825 189898825 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:189898825C>T ENST00000374866.3 - 54 4745 c.4471G>A c.(4471-4473)Gtt>Att p.V1491I NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1491 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAATTTCAACGCCGAATTCC 0.473000 4 50 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32053956 32053956 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:32053956G>A ENST00000438447.1 + 10 2255 c.1867G>A c.(1867-1869)Gga>Aga p.G623R PDZD2_ENST00000282493.3_Missense_Mutation_p.G623R O15018 PDZD2_HUMAN PDZ domain containing 2 623 PDZ 3. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTTCCCAAATGGATCAGCTGC 0.483000 8 43 0 0 1 0 0 MEF2A 4205 broad.mit.edu 37 15 100215612 100215612 + Silent SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:100215612T>C ENST00000354410.5 + 7 1254 c.625T>C c.(625-627)Ttg>Ctg p.L209L MEF2A_ENST00000453228.2_Silent_p.L207L|MEF2A_ENST00000338042.6_Silent_p.L207L|MEF2A_ENST00000557942.1_Silent_p.L207L|MEF2A_ENST00000449277.2_Silent_p.L139L|MEF2A_ENST00000557785.1_Silent_p.L207L|MEF2A_ENST00000558812.1_Silent_p.L139L NM_005587.2 NP_005578.2 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 209 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) AGGTGGGATGTTGAGCACTAC 0.433000 6 43 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32209435 32209435 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:32209435C>T ENST00000396193.1 - 3 863 c.270G>A c.(268-270)caG>caA p.Q90Q NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 0 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.Q90H(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) AGCTATCCAGCTGTGGCAATT 0.483000 10 42 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42264381 42264381 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:42264381G>A ENST00000379310.3 - 33 3965 c.3897C>T c.(3895-3897)atC>atT p.I1299I VWA8_ENST00000478987.1_5'UTR NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CCTCAGATTCGATGTGTGCAG 0.403000 5 47 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228752 21228752 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:21228752C>T ENST00000233242.1 - 26 11115 c.10988G>A c.(10987-10989)gGa>gAa p.G3663E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3663 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCTAAGGATCCTGCAATGTC 0.438000 7 31 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19490826 19490826 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:19490826C>T ENST00000396229.2 + 14 2992 c.2243C>T c.(2242-2244)tCc>tTc p.S748F TMC5_ENST00000381414.4_Missense_Mutation_p.S748F|TMC5_ENST00000541464.1_Missense_Mutation_p.S696F|TMC5_ENST00000564959.1_Missense_Mutation_p.S431F|TMC5_ENST00000561503.1_Missense_Mutation_p.S389F|TMC5_ENST00000542583.2_Missense_Mutation_p.S748F|TMC5_ENST00000219821.5_Missense_Mutation_p.S502F|CTA-363E6.6_ENST00000561762.1_RNA NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 748 integral to membrane 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 TTAGTCAATTCCTTCCTGGGG 0.458000 42 115 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147488380 147488380 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:147488380G>A ENST00000359874.3 + 18 1745 c.1672G>A c.(1672-1674)Gtt>Att p.V558I SPINK5_ENST00000398454.1_Missense_Mutation_p.V558I|SPINK5_ENST00000256084.7_Missense_Mutation_p.V558I NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 558 anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ggctgaaaaagttaagagaga 0.388000 9 68 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28598708 28598708 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:28598708C>T ENST00000434452.1 - 8 1155 c.1001G>A c.(1000-1002)gGa>gAa p.G334E DSC3_ENST00000360428.4_Missense_Mutation_p.G334E NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 334 Cadherin 2. 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) GCCTATCAATCCAAAAAACTG 0.313000 14 43 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32438053 32438053 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:32438053C>T ENST00000332351.3 - 5 1268 c.984G>A c.(982-984)tgG>tgA p.W328* WT1_ENST00000448076.3_Nonsense_Mutation_p.W328*|WT1_ENST00000379079.2_Nonsense_Mutation_p.W116*|WT1_ENST00000530998.1_Intron NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 260 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.?(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GCCCTTCTGTCCATTTCACTG 0.557000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 46 268 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33634925 33634925 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:33634925C>T ENST00000380099.3 + 4 1717 c.1709C>T c.(1708-1710)tCc>tTc p.S570F KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 570 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 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) AAGAGGAAATCCTACTGTGTT 0.483000 15 46 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782166 134782166 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:134782166G>A ENST00000503143.2 - 1 872 c.633C>T c.(631-633)tcC>tcT p.S211S TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 211 Ser-rich. nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCAGGTGAGGGATAGTGATA 0.572000 11 40 0 0 1 0 0 PPCDC 60490 broad.mit.edu 37 15 75341549 75341549 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:75341549C>T ENST00000342932.3 + 6 732 c.588C>T c.(586-588)ttC>ttT p.F196F PPCDC_ENST00000568649.1_Silent_p.F153F|PPCDC_ENST00000567336.1_Silent_p.F164F|PPCDC_ENST00000564923.1_Silent_p.F121F|PPCDC_ENST00000563393.1_Silent_p.F73F NM_021823.3 NP_068595.3 Q96CD2 COAC_HUMAN phosphopantothenoylcysteine decarboxylase 196 coenzyme A biosynthetic process|pantothenate metabolic process cytosol phosphopantothenoylcysteine decarboxylase activity breast(1)|cervix(1) 2 AAGTCCTCTTCCAGCACAGTG 0.552000 9 29 0 0 1 0 0 SULT2A1 6822 broad.mit.edu 37 19 48382302 48382302 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:48382302C>T ENST00000222002.3 - 4 697 c.558G>A c.(556-558)gaG>gaA p.E186E NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 186 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CCTGTTTCAGCTCCTCATAAC 0.473000 23 102 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43427388 43427388 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:43427388C>T ENST00000039989.4 + 13 1662 c.1648C>T c.(1648-1650)Cct>Tct p.P550S TTC17_ENST00000299240.6_Missense_Mutation_p.P550S|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 550 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GGCCCAAACCCCTGACTGTTC 0.418000 17 57 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891609 18891609 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:18891609G>A ENST00000317658.3 + 1 565 c.407G>A c.(406-408)gGa>gAa p.G136E NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 136 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding p.G136A(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TATCCAAAAGGAAATTGCAAC 0.403000 7 48 0 0 1 0 0 SLC35A5 55032 broad.mit.edu 37 3 112300032 112300032 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:112300032C>T ENST00000492406.1 + 6 1351 c.1068C>T c.(1066-1068)tcC>tcT p.S356S SLC35A5_ENST00000460713.1_3'UTR NM_017945.2 NP_060415.1 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 356 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1) 11 TCAGGCCCTCCCTGGAATTTT 0.453000 10 58 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27372498 27372498 + Splice_Site SNP C C G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:27372498C>G ENST00000358918.3 - 7 1065 c.e7-1 APP_ENST00000346798.3_Splice_Site|APP_ENST00000440126.3_Splice_Site|APP_ENST00000439274.2_Splice_Site|APP_ENST00000359726.3_Intron|APP_ENST00000357903.3_Splice_Site|APP_ENST00000354192.3_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000448388.2_Intron NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) GAGCACACCTCTAATCAGAGG 0.498000 3 28 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228432259 228432259 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:228432259C>T ENST00000570156.2 + 12 3818 c.3744C>T c.(3742-3744)caC>caT p.H1248H OBSCN_ENST00000422127.1_Silent_p.H1156H|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.H1156H NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 198 Ig-like 12. Q -> H. 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) TCTCCTTCCACCTGCACATCA 0.532000 24 88 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626906 108626906 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:108626906C>T ENST00000264047.2 + 9 1608 c.1332C>T c.(1330-1332)ttC>ttT p.F444F SLC5A7_ENST00000409059.1_Silent_p.F444F|SLC5A7_ENST00000540517.1_Silent_p.F339F NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 444 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CTGGCCTCTTCCTGAGAATAA 0.443000 4 47 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49224060 49224060 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:49224060G>A ENST00000222145.4 - 12 3091 c.2887C>T c.(2887-2889)Cct>Tct p.P963S NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 963 signal transduction Golgi stack|perinuclear region of cytoplasm p.P963A(1) 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) GGTTCTCAAGGAGACGTGGCC 0.592000 26 208 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582407 82582407 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:82582407G>A ENST00000423517.2 - 5 8199 c.7862C>T c.(7861-7863)tCt>tTt p.S2621F PCLO_ENST00000333891.8_Missense_Mutation_p.S2621F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2552 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 AGGAACTACAGAAAACACAGG 0.453000 22 80 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9237290 9237290 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:9237290C>T ENST00000305444.2 - 1 336 c.337G>A c.(337-339)Gga>Aga p.G113R NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 ACCAGAATTCCATTTTCCAAT 0.478000 32 67 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35922986 35922986 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:35922986G>A ENST00000490799.1 - 17 2528 c.2175C>T c.(2173-2175)atC>atT p.I725I SLC26A8_ENST00000394602.2_Silent_p.I620I|SLC26A8_ENST00000355574.2_Silent_p.I725I NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 725 Interaction with RACGAP1.|STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 AGAAATCCAGGATGATGGTGT 0.547000 14 39 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29908761 29908761 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:29908761G>A ENST00000256062.5 - 4 761 c.288C>T c.(286-288)ttC>ttT p.F96F TMTC1_ENST00000539277.1_Silent_p.F204F|TMTC1_ENST00000551659.1_Silent_p.F204F|TMTC1_ENST00000552618.1_Silent_p.F204F|TMTC1_ENST00000381224.2_Silent_p.F96F NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 204 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TGAGCAGCAAGAAGAAGGGAG 0.463000 10 21 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47230774 47230774 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:47230774C>T ENST00000391910.3 - 9 1654 c.1204G>A c.(1204-1206)Ggg>Agg p.G402R STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.G395R|STRN4_ENST00000539396.1_Missense_Mutation_p.G276R Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 395 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding p.G395R(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CTCACCTCCCCGCCCCCGATA 0.617000 3 23 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121702361 121702361 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:121702361C>T ENST00000264808.3 - 12 1620 c.1380G>A c.(1378-1380)aaG>aaA p.K460K PRDM5_ENST00000428209.2_Silent_p.K429K|PRDM5_ENST00000515109.1_Silent_p.K429K NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 460 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CACACCTATACTTCTTGTGTC 0.398000 11 59 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2601589 2601589 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:2601589G>A ENST00000570628.1 - 10 1553 c.1448C>T c.(1447-1449)aCg>aTg p.T483M CLUH_ENST00000435359.1_Missense_Mutation_p.T483M|CLUH_ENST00000538975.1_Missense_Mutation_p.T483M|CLUH_ENST00000575014.1_Missense_Mutation_p.T415M clustered mitochondria (cluA/CLU1) homolog GGACTGGGCCGTGACCCGGTA 0.657000 9 14 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150761 247150761 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:247150761G>A ENST00000339986.7 - 4 1203 c.1056C>T c.(1054-1056)ttC>ttT p.F352F ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 352 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTTCACATCGGAAGGTTTTCT 0.388000 4 14 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130475993 130475993 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:130475993G>A ENST00000368134.2 - 11 1608 c.1000C>T c.(1000-1002)Cct>Tct p.P334S SAMD3_ENST00000437477.2_Missense_Mutation_p.P334S|SAMD3_ENST00000457563.2_Missense_Mutation_p.P358S|SAMD3_ENST00000439090.2_Missense_Mutation_p.P334S NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 334 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TTCAAGAAAGGAAACAGTTTA 0.323000 11 24 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11304351 11304351 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:11304351G>A ENST00000432929.2 - 4 765 c.405C>T c.(403-405)ctC>ctT p.L135L KANK2_ENST00000589894.1_Silent_p.L135L|KANK2_ENST00000586659.1_Silent_p.L135L|KANK2_ENST00000589359.1_Silent_p.L135L|KANK2_ENST00000355150.5_Silent_p.L135L NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 135 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CCTGGTCCTCGAGACGGCGAC 0.716000 13 33 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73021967 73021967 + Missense_Mutation SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:73021967A>G ENST00000268057.4 + 10 694 c.653A>G c.(652-654)tAc>tGc p.Y218C BBS4_ENST00000539603.1_Missense_Mutation_p.Y206C|BBS4_ENST00000542334.1_Missense_Mutation_p.Y46C|BBS4_ENST00000395205.2_Missense_Mutation_p.Y226C NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 218 Interaction with PCM1. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 CTCGGCATTTACCAGAAGGCA 0.468000 Bardet-Biedl syndrome 3 80 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487923 63487923 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:63487923C>T ENST00000377819.5 + 3 2103 c.1949C>T c.(1948-1950)tCc>tTc p.S650F RTN3_ENST00000339997.4_Missense_Mutation_p.S631F|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S538F|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 650 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 GATGATTCCTCCCCAGAGGAC 0.353000 7 27 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138492 126138492 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:126138492G>A ENST00000299308.3 + 9 2481 c.2473G>A c.(2473-2475)Gag>Aag p.E825K TMEM132B_ENST00000535886.1_Missense_Mutation_p.E337K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 825 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) AGGAAACCAGGAGAGAGCAGT 0.498000 5 33 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856783 53856783 + Missense_Mutation SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:53856783T>G ENST00000458035.1 + 4 2972 c.2855T>G c.(2854-2856)tTt>tGt p.F952C ZNF845_ENST00000595091.1_Missense_Mutation_p.F952C NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 952 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GGCAAGGTTTTTAATCGAAAA 0.343000 10 10 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52960824 52960824 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:52960824C>T ENST00000549343.1 - 10 1599 c.1561G>A c.(1561-1563)Ggg>Agg p.G521R KRT74_ENST00000305620.2_Missense_Mutation_p.G507R Q7RTS7 K2C74_HUMAN keratin 74 507 Tail. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) AGGTCTCCCCCTCGCGCCTCT 0.667000 35 74 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869134 52869134 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:52869134C>T ENST00000601151.1 + 5 826 c.374C>T c.(373-375)tCt>tTt p.S125F ZNF610_ENST00000321287.8_Missense_Mutation_p.S168F|ZNF610_ENST00000327920.8_Missense_Mutation_p.S168F|ZNF610_ENST00000403906.3_Missense_Mutation_p.S168F NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) CAAAAAATTTCTTCTAGTTTC 0.323000 15 58 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31600510 31600510 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:31600510C>T ENST00000376033.2 + 16 4294 c.4060C>T c.(4060-4062)Cct>Tct p.P1354S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1354S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1354 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TGTGGGAACTCCTGGGGGAGG 0.582000 27 76 0 0 1 0 0 WIZ 58525 broad.mit.edu 37 19 15536360 15536360 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:15536360G>A ENST00000389282.4 - 7 4085 c.3872C>T c.(3871-3873)gCc>gTc p.A1291V WIZ_ENST00000263381.6_Missense_Mutation_p.A434V|WIZ_ENST00000599910.1_Missense_Mutation_p.A608V|WIZ_ENST00000599686.2_Missense_Mutation_p.A475V|WIZ_ENST00000545156.1_Missense_Mutation_p.A605V O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1291 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CAGGGCAGGGGCCAGGTCTCC 0.672000 5 32 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84270451 84270451 + Missense_Mutation SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:84270451G>T ENST00000568181.1 - 2 761 c.641C>A c.(640-642)cCg>cAg p.P214Q KCNG4_ENST00000308251.4_Missense_Mutation_p.P214Q Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 214 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CCCGGACTGCGGGTTTTCCAC 0.677000 25 53 7.92952e-12 8.12751e-12 1 1 0 CASP4 837 broad.mit.edu 37 11 104819285 104819285 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:104819285G>A ENST00000444739.2 - 6 1810 c.900C>T c.(898-900)ttC>ttT p.F300F CASP4_ENST00000393150.3_Silent_p.F244F NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 300 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) AGAAAGCAATGAAGTCCTTCT 0.468000 8 18 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1259342 1259342 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:1259342C>T ENST00000348261.5 + 17 3922 c.3674C>T c.(3673-3675)cCc>cTc p.P1225L CACNA1H_ENST00000358590.4_Missense_Mutation_p.P1225L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P1225L NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1225 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GTGGCCCTGCCCAGCGACTTC 0.731000 9 29 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924856 105924856 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:105924856G>A ENST00000526793.1 - 3 719 c.560C>T c.(559-561)tCc>tTc p.S187F KBTBD3_ENST00000534815.1_Missense_Mutation_p.S108F|KBTBD3_ENST00000531837.1_Missense_Mutation_p.S187F NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 183 BACK. NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) GAAATCACTGGATTTAAATAA 0.318000 7 18 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93088625 93088625 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:93088625A>T ENST00000298050.3 + 3 218 c.118A>T c.(118-120)Atg>Ttg p.M40L CCDC67_ENST00000527307.1_Missense_Mutation_p.M40L|CCDC67_ENST00000530053.1_3'UTR NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 40 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GGAAAGAAAGATGCGGGCTTT 0.403000 8 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066578 9066578 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:9066578G>A ENST00000397910.4 - 3 21071 c.20868C>T c.(20866-20868)acC>acT p.T6956T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6958 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T6956T(2)|p.T2589T(1) 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 GGGAAATGCTGGTCTCTCTCA 0.448000 30 98 0 0 1 0 0 BMPR1B 658 broad.mit.edu 37 4 96075805 96075805 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:96075805C>T ENST00000515059.1 + 13 1773 c.1490C>T c.(1489-1491)tCc>tTc p.S497F BMPR1B_ENST00000440890.2_Missense_Mutation_p.S527F|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S497F|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S497F NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 497 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) ATGTCAGAGTCCCAGGACATT 0.458000 8 19 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78666819 78666819 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:78666819C>T ENST00000436010.2 - 25 5128 c.4131G>A c.(4129-4131)ctG>ctA p.L1377L ROBO1_ENST00000464233.1_Silent_p.L1416L|ROBO1_ENST00000467549.1_Silent_p.L1316L|ROBO1_ENST00000495273.1_Silent_p.L1371L Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1416 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GTGCTACTTTCAGACCAGCAT 0.493000 6 50 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158541472 158541472 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:158541472G>A ENST00000367102.2 - 11 1292 c.1151C>T c.(1150-1152)cCc>cTc p.P384L SERAC1_ENST00000367104.3_Missense_Mutation_p.P384L|SERAC1_ENST00000367101.1_Missense_Mutation_p.P384L Q96JX3 SRAC1_HUMAN serine active site containing 1 384 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) TCGATATTGGGGATGCAGCAC 0.438000 14 70 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32589092 32589092 + Missense_Mutation SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:32589092C>A ENST00000400236.3 - 4 1288 c.83G>T c.(82-84)tGc>tTc p.C28F RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.C57F|RFPL2_ENST00000400237.1_Missense_Mutation_p.C118F|RFPL2_ENST00000248983.4_Missense_Mutation_p.C28F NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 118 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 GCAGACGGCGCATCCACACTC 0.522000 31 47 7.11191e-15 7.36302e-15 1 1 0 MCM3AP 8888 broad.mit.edu 37 21 47664722 47664722 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:47664722C>T ENST00000397708.1 - 24 5291 c.5038_splice c.e24+1 p.G1679_splice MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Splice_Site_p.G1679_splice|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1679 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) AGCACGTACCCCCCAGGGGTG 0.622000 15 29 0 0 1 0 0 INSIG1 3638 broad.mit.edu 37 7 155090268 155090268 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:155090268C>T ENST00000340368.4 + 2 484 c.273C>T c.(271-273)ctC>ctT p.L91L INSIG1_ENST00000342407.5_Silent_p.L91L|INSIG1_ENST00000344756.4_Intron NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 91 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCTCGTGCTCTTCTCGGTTG 0.647000 4 9 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86416042 86416042 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:86416042G>A ENST00000361669.2 + 3 2033 c.934G>A c.(934-936)Ggc>Agc p.G312S GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.G310S|GRM3_ENST00000536043.1_Missense_Mutation_p.G184S|GRM3_ENST00000439827.1_Missense_Mutation_p.G312S NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 312 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CATCATCAAGGGCAGCGAGCA 0.667000 19 50 0 0 1 0 0 SOX10 6663 broad.mit.edu 37 22 38374047 38374047 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:38374047G>A ENST00000396884.2 - 3 806 c.524C>T c.(523-525)cCc>cTc p.P175L SOX10_ENST00000360880.2_Missense_Mutation_p.P175L|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 175 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CCGCCGCCTGGGCTGGTACTT 0.667000 4 5 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516131 195516131 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:195516131G>A ENST00000463781.3 - 2 2779 c.2320C>T c.(2320-2322)Cac>Tac p.H774Y MUC4_ENST00000475231.1_Missense_Mutation_p.H774Y|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 779 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCAGCCTGGTGGGTATGGGTC 0.612000 12 51 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753570 76753570 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:76753570G>A ENST00000536229.3 + 1 1889 c.1180G>A c.(1180-1182)Ggg>Agg p.G394R SALL3_ENST00000575389.2_Missense_Mutation_p.G527R|SALL3_ENST00000537592.2_Missense_Mutation_p.G527R Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CACGTCCGTGGGGCTGCAACT 0.741000 4 8 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52263740 52263740 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:52263740G>A ENST00000494383.1 - 4 399 c.400C>T c.(400-402)Cag>Tag p.Q134* TLR9_ENST00000597542.1_Silent_p.S4S|TWF2_ENST00000305533.5_Silent_p.S273S|TWF2_ENST00000499914.2_Intron Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TCTTGCAGCTGGAGTAGAGCA 0.622000 9 45 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146708083 146708083 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:146708083G>A ENST00000392299.2 + 7 2130 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K GRM1_ENST00000355289.4_Missense_Mutation_p.E554K|GRM1_ENST00000492807.2_Missense_Mutation_p.E554K|GRM1_ENST00000361719.2_Missense_Mutation_p.E554K|GRM1_ENST00000282753.1_Missense_Mutation_p.E554K|GRM1_ENST00000507907.1_Missense_Mutation_p.E554K Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 554 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAAAGAGAATGAATATGTGCA 0.433000 18 80 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58910672 58910672 + Splice_Site SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:58910672G>A ENST00000423743.3 + 7 712 c.453_splice c.e7-1 p.V152_splice KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Splice_Site_p.V249_splice|KIAA0586_ENST00000261244.5_Splice_Site_p.V196_splice|KIAA0586_ENST00000556134.1_Splice_Site_p.V181_splice NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 196 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATTGTTTTAGGTGCAGAGTGA 0.299000 4 3 0 0 1 0 0 SSX9 280660 broad.mit.edu 37 X 48163047 48163047 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:48163047C>T ENST00000376909.1 - 4 334 c.272G>A c.(271-273)aGg>aAg p.R91K SSX9_ENST00000407081.2_Missense_Mutation_p.R91K breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 ACCCTGATTCCTGTGGTTACG 0.488000 24 66 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147644 6147644 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:6147644G>A ENST00000588304.1 + 3 551 c.105G>A c.(103-105)caG>caA p.Q35Q ACSBG2_ENST00000591403.1_Silent_p.Q85Q|ACSBG2_ENST00000586696.1_Silent_p.Q85Q|ACSBG2_ENST00000252669.5_Silent_p.Q85Q|ACSBG2_ENST00000588485.1_5'UTR Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 85 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATTTCAACCAGTACTATGAGG 0.408000 27 112 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173043 126173043 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:126173043A>T ENST00000339582.2 - 9 3201 c.2393T>A c.(2392-2394)aTc>aAc p.I798N GRM8_ENST00000358373.3_Missense_Mutation_p.I798N|GRM8_ENST00000444921.2_Missense_Mutation_p.I798N O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 798 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AAAGATGGGGATGAAAGCTAA 0.393000 HNSCC(24;0.065) 11 32 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607231 84607231 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:84607231C>T ENST00000344803.2 + 4 1893 c.1846C>T c.(1846-1848)Ctt>Ttt p.L616F NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.L616F(1) GGCACGGTCTCTTTTGCCATC 0.473000 13 30 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32953892 32953892 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:32953892C>T ENST00000399302.2 + 4 1036 c.701C>T c.(700-702)tCc>tTc p.S234F QSER1_ENST00000527788.1_Missense_Mutation_p.S234F NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 234 Ser-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TCATCTTTATCCTGTAGCCCA 0.443000 8 31 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691941 106691941 + RNA SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:106691941C>T ENST00000390607.2 - 0 161 GACCAGGCCTCCCCCAGACTC 0.567000 12 81 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26507084 26507084 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:26507084G>A ENST00000361530.6 + 2 338 c.193G>A c.(193-195)Gaa>Aaa p.E65K CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.E65K|CNKSR1_ENST00000531191.1_5'UTR Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 65 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|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;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GGGCGGGGTGGAACAGCTCCA 0.657000 22 43 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27282176 27282176 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:27282176C>T ENST00000360131.4 + 11 2152 c.1993C>T c.(1993-1995)Ccc>Tcc p.P665S AGBL5_ENST00000323064.8_Missense_Mutation_p.P665S NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 665 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGAATTCCCCCAGCTTTCC 0.577000 13 114 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746540 158746540 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:158746540C>T ENST00000339258.1 - 1 885 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 296 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) TTAATGATTTCCTTGTTACGA 0.408000 23 65 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402035 89402035 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:89402035C>T ENST00000439576.2 + 12 6593 c.6219C>T c.(6217-6219)gtC>gtT p.V2073V ACAN_ENST00000352105.7_Silent_p.V2073V|ACAN_ENST00000561243.1_Silent_p.V2073V|ACAN_ENST00000559004.1_Silent_p.V2073V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2073 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) GTGGAAAAGTCTCCACAGCTG 0.527000 3 20 0 0 1 0 0 MLLT1 4298 broad.mit.edu 37 19 6227095 6227095 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:6227095C>T ENST00000252674.7 - 5 602 c.439G>A c.(439-441)Gga>Aga p.G147R NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 147 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 GTGTCTGCTCCTTCGGGCATT 0.597000 T MLL AL 10 43 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71663316 71663316 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:71663316C>T ENST00000268485.3 + 2 558 c.514C>T c.(514-516)Cga>Tga p.R172* MARVELD3_ENST00000299952.4_Nonsense_Mutation_p.R172*|MARVELD3_ENST00000567566.1_Nonsense_Mutation_p.R172*|MARVELD3_ENST00000565261.1_Silent_p.D117D|MARVELD3_ENST00000567501.1_5'UTR NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 172 integral to membrane p.R172R(2) NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) CAGGCCTGGACGAGAGGAGGT 0.517000 14 46 0 0 1 0 0 FAM177B 400823 broad.mit.edu 37 1 222919965 222919965 + Silent SNP C C T rs140872706 byFrequency TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:222919965C>T ENST00000445590.2 + 3 344 c.78C>T c.(76-78)atC>atT p.I26I FAM177B_ENST00000360827.2_Silent_p.I26I NM_207468.2 NP_997351.2 A6PVY3 F177B_HUMAN family with sequence similarity 177, member B 26 breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 AAAGGATTATCCATTTTGTTG 0.408000 10 36 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61835340 61835340 + Missense_Mutation SNP A A C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:61835340A>C ENST00000280772.1 - 37 5490 c.5299T>G c.(5299-5301)Ttt>Gtt p.F1767V ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1767 Ser-rich. 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 GTGGTAGAAAACACTTTCTCA 0.468000 9 31 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154042090 154042090 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:154042090C>T ENST00000496811.1 - 1 196 c.116G>A c.(115-117)gGc>gAc p.G39D DHX36_ENST00000329463.5_Missense_Mutation_p.G39D|DHX36_ENST00000544526.1_Missense_Mutation_p.G39D|DHX36_ENST00000308361.6_Missense_Mutation_p.G39D NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 39 Gly-rich. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCCGCCGCCGCCTCCTCCGGA 0.706000 9 52 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29553544 29553544 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:29553544C>T ENST00000358273.4 + 18 2476 c.2093C>T c.(2092-2094)cCt>cTt p.P698L NF1_ENST00000356175.3_Missense_Mutation_p.P698L NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 698 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTGTGGAACCCTGACACTGAA 0.547000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 24 68 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32136376 32136376 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:32136376C>T ENST00000312561.4 + 4 2901 c.2487C>T c.(2485-2487)acC>acT p.T829T KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CAACATCAACCAAGATTTTTC 0.368000 12 42 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237729900 237729900 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:237729900A>T ENST00000366574.2 + 28 3565 c.3248A>T c.(3247-3249)gAa>gTa p.E1083V RYR2_ENST00000360064.6_Missense_Mutation_p.E1081V|RYR2_ENST00000542537.1_Missense_Mutation_p.E1067V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1083 4 X approximate repeats.|B30.2/SPRY 2. 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) GGCACCGGGGAAAGGTTCCGA 0.527000 13 46 0 0 1 0 0 DRAM2 128338 broad.mit.edu 37 1 111663232 111663232 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:111663232G>A ENST00000286692.4 - 6 1040 c.423C>T c.(421-423)atC>atT p.I141I DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Silent_p.I141I Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 141 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 GGTAGGAAAGGATGGTCTGAA 0.428000 5 27 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62595446 62595446 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:62595446G>A ENST00000450537.1 - 8 1518 c.1458C>T c.(1456-1458)gcC>gcT p.A486A ZNF512B_ENST00000369888.1_Silent_p.A486A|ZNF512B_ENST00000217130.3_Silent_p.A486A Q96KM6 Z512B_HUMAN zinc finger protein 512B 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGGCCACAGGGGCCGGTGCCT 0.687000 46 97 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128680623 128680623 + Missense_Mutation SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:128680623C>A ENST00000344954.6 + 9 1388 c.1000C>A c.(1000-1002)Cag>Aag p.Q334K FLI1_ENST00000525560.1_Missense_Mutation_p.Q174K|FLI1_ENST00000534087.1_Missense_Mutation_p.Q334K|FLI1_ENST00000281428.8_Missense_Mutation_p.Q301K|FLI1_ENST00000429175.2_Missense_Mutation_p.Q367K Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 367 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CGGCATTGCCCAGGCTCTGCA 0.493000 T EWSR1 Ewing sarcoma 4 41 0.00024832 0.000250763 1 1 0 PHC2 1912 broad.mit.edu 37 1 33799745 33799745 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:33799745G>A ENST00000257118.5 - 9 1757 c.1704C>T c.(1702-1704)atC>atT p.I568I PHC2_ENST00000419414.2_Silent_p.I569I|PHC2_ENST00000485928.1_Intron|PHC2_ENST00000373416.1_Silent_p.I33I|PHC2_ENST00000373422.3_Silent_p.I174I|PHC2_ENST00000431992.1_Silent_p.I539I|PHC2_ENST00000373418.3_Silent_p.I33I NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 568 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CATGCGTCAGGATTTGGGGTT 0.512000 8 65 0 0 1 0 0 APBA3 9546 broad.mit.edu 37 19 3759811 3759811 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:3759811G>A ENST00000316757.3 - 2 652 c.452C>T c.(451-453)tCc>tTc p.S151F NM_004886.3 NP_004877.1 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 3 151 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CCATTCTGGGGAGTCAGAATC 0.637000 10 28 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908910 158908910 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:158908910G>A ENST00000368140.1 + 4 697 c.452G>A c.(451-453)aGg>aAg p.R151K PYHIN1_ENST00000368138.3_Missense_Mutation_p.R142K|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R151K|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R142K|PYHIN1_ENST00000368135.4_Missense_Mutation_p.R151K NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 151 cell cycle nuclear speck p.R151M(1) breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) GGAACCAAAAGGAGTAAGATG 0.458000 11 39 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147645 6147645 + Missense_Mutation SNP T T A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:6147645T>A ENST00000588304.1 + 3 552 c.106T>A c.(106-108)Tac>Aac p.Y36N ACSBG2_ENST00000591403.1_Missense_Mutation_p.Y86N|ACSBG2_ENST00000586696.1_Missense_Mutation_p.Y86N|ACSBG2_ENST00000252669.5_Missense_Mutation_p.Y86N|ACSBG2_ENST00000588485.1_5'UTR Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 86 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTTCAACCAGTACTATGAGGC 0.408000 26 109 0 0 1 0 0 C1orf27 54953 broad.mit.edu 37 1 186375275 186375275 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:186375275C>T ENST00000367470.3 + 11 1228 c.992C>T c.(991-993)aCt>aTt p.T331I C1orf27_ENST00000419367.3_Missense_Mutation_p.T322I|C1orf27_ENST00000432021.3_Missense_Mutation_p.T331I|C1orf27_ENST00000287859.6_Missense_Mutation_p.T354I NM_001164245.1 NP_001157717.1 Q5SWX8 ODR4_HUMAN chromosome 1 open reading frame 27 354 integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 9 CCTGGATCCACTGTAATGTTG 0.353000 21 45 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52611301 52611301 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:52611301G>A ENST00000399231.3 - 38 5358 c.5115C>T c.(5113-5115)ctC>ctT p.L1705L MYO5A_ENST00000356338.6_Silent_p.L1678L|MYO5A_ENST00000399233.2_Silent_p.L1702L|MYO5A_ENST00000358212.6_Silent_p.L1730L|MYO5A_ENST00000553916.1_Silent_p.L1703L NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1705 Dilute. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CCTTCCGCAGGAGAAGGTTGT 0.537000 4 47 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003978 34003978 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:34003978G>A ENST00000382491.3 - 28 4032 c.3908C>T c.(3907-3909)cCa>cTa p.P1303L SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1350L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1389L|SYNJ1_ENST00000382499.2_3'UTR NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1350 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 CTTTGGGTCTGGGGTGGGAAC 0.438000 8 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598099 179598099 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:179598099G>A ENST00000589042.1 - 54 16145 c.15921C>T c.(15919-15921)taC>taT p.Y5307Y TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.Y4990Y|TTN_ENST00000342992.6_Silent_p.Y4063Y|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4990 Ig-like 33. 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) AACTTATTCGGTATTTTTTAC 0.468000 12 67 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46976810 46976810 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:46976810G>A ENST00000371253.2 - 11 2576 c.2361C>T c.(2359-2361)atC>atT p.I787I GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.I590I NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 787 I -> V (in dbSNP:rs1226475). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TCCCCACGCGGATGATGGTGG 0.552000 9 33 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1828138 1828138 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:1828138G>A ENST00000170168.4 - 2 744 c.650C>T c.(649-651)cCc>cTc p.P217L REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 217 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) CTTGCCACTGGGAACGGGGCG 0.677000 14 69 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56819252 56819252 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:56819252C>T ENST00000370754.5 - 1 133 c.134G>A c.(133-135)gGg>gAg p.G45E Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 1. 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) CGGATGCCTCCCTTTCTGGAG 0.567000 10 15 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40885670 40885670 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:40885670C>T ENST00000291823.2 - 4 1959 c.1675G>A c.(1675-1677)Gac>Aac p.D559N NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 559 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) AGCTCAGGGTCTGGCCTCTGT 0.617000 5 13 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189026387 189026387 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:189026387C>T ENST00000536972.1 - 2 383 c.136G>A c.(136-138)Gag>Aag p.E46K TRIML2_ENST00000512729.1_5'UTR|TRIML2_ENST00000326754.3_5'UTR Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 0 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGTTTGTGCTCCTGGGACTGG 0.478000 20 99 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110459516 110459516 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:110459516C>T ENST00000506538.2 + 20 2903 c.2330C>T c.(2329-2331)cCa>cTa p.P777L WDR36_ENST00000513710.2_Missense_Mutation_p.P777L NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 777 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AAGAATAAACCAAAGGAACCA 0.328000 4 43 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102069868 102069868 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:102069868G>A ENST00000369138.1 + 2 650 c.160G>A c.(160-162)Gaa>Aaa p.E54K GRIK2_ENST00000358361.3_Missense_Mutation_p.E54K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E54K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E54K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E54K|GRIK2_ENST00000421544.1_Missense_Mutation_p.E54K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E5K NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 54 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.E54K(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GGGAGCTGAGGAACTTGCATT 0.348000 5 35 0 0 1 0 0 BMF 90427 broad.mit.edu 37 15 40398134 40398134 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:40398134G>A ENST00000354670.4 - 3 388 c.154C>T c.(154-156)Ctc>Ttc p.L52F BMF_ENST00000397573.1_Missense_Mutation_p.L52F|BMF_ENST00000431415.3_Missense_Mutation_p.L52F|BMF_ENST00000561360.1_Missense_Mutation_p.L52F|BMF_ENST00000561282.1_Missense_Mutation_p.L52F|BMF_ENST00000220446.4_Missense_Mutation_p.L52F|BMF_ENST00000559701.1_Missense_Mutation_p.L52F|BMF_ENST00000558774.1_Missense_Mutation_p.L52F NM_001003940.1 NP_001003940.1 Q96LC9 BMF_HUMAN Bcl2 modifying factor 52 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) CAGTGGGTGAGAGGGAAGAGC 0.642000 13 32 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35955855 35955855 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:35955855C>T ENST00000274278.3 - 6 1544 c.1187G>A c.(1186-1188)gGa>gAa p.G396E UGT3A1_ENST00000503189.1_Missense_Mutation_p.G396E|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G362E NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 396 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GACCATGTTTCCATGCTGGTC 0.478000 12 59 0 0 1 0 0 C1D 10438 broad.mit.edu 37 2 68274371 68274371 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:68274371G>A ENST00000355848.3 - 2 119 c.72C>T c.(70-72)tcC>tcT p.S24S C1D_ENST00000410067.3_Silent_p.S24S|C1D_ENST00000407324.1_Silent_p.S63S|C1D_ENST00000409302.1_Silent_p.S24S Q13901 C1D_HUMAN C1D nuclear receptor corepressor 24 Required for transcriptional repression (By similarity). apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear exosome (RNase complex)|nucleolus DNA binding|RNA binding lung(2)|urinary_tract(1) 3 CAGCACCAATGGAATTCTCAA 0.338000 6 29 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 35996873 35996873 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:35996873G>A ENST00000339686.3 - 8 1230 c.1054C>T c.(1054-1056)Cct>Tct p.P352S DMKN_ENST00000467637.1_Missense_Mutation_p.P77S|DMKN_ENST00000419602.1_Missense_Mutation_p.P341S|DMKN_ENST00000602781.1_Missense_Mutation_p.P65S|DMKN_ENST00000458071.1_Missense_Mutation_p.P97S|DMKN_ENST00000447113.2_Missense_Mutation_p.P402S|DMKN_ENST00000443640.1_Missense_Mutation_p.P115S|DMKN_ENST00000424570.2_Missense_Mutation_p.P364S|DMKN_ENST00000440396.1_Missense_Mutation_p.P382S|DMKN_ENST00000429837.1_Missense_Mutation_p.P311S|DMKN_ENST00000418261.1_Missense_Mutation_p.P352S|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000392206.2_Missense_Mutation_p.P65S|DMKN_ENST00000488892.1_Missense_Mutation_p.P48S|DMKN_ENST00000402589.2_Missense_Mutation_p.P65S|DMKN_ENST00000414866.2_Missense_Mutation_p.P65S|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000451297.2_Missense_Mutation_p.P335S|DMKN_ENST00000480502.1_Missense_Mutation_p.P65S|DMKN_ENST00000436012.1_Missense_Mutation_p.P48S|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000461300.1_5'UTR NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 352 extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AACATCCCAGGAGACGTCTCA 0.527000 23 94 0 0 1 0 0 RQCD1 9125 broad.mit.edu 37 2 219449406 219449406 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:219449406C>T ENST00000273064.6 + 4 767 c.392C>T c.(391-393)cCc>cTc p.P131L RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L|RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 131 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAAACACGTCCCTTTGAGTAT 0.423000 14 100 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137271876 137271876 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:137271876C>T ENST00000453654.1 - 13 1031 c.492G>A c.(490-492)ggG>ggA p.G164G DGKI_ENST00000446122.1_Silent_p.G464G|DGKI_ENST00000424189.2_Silent_p.G464G|DGKI_ENST00000288490.5_Silent_p.G464G O75912 DGKI_HUMAN diacylglycerol kinase, iota 464 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCAGGTCATTCCCAGTCCCCA 0.577000 18 54 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 878385 878385 + Missense_Mutation SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:878385G>T ENST00000342066.3 + 11 1594 c.1511G>T c.(1510-1512)gGg>gTg p.G504V NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 504 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CTTTTCCCAGGGTCCACACTG 0.682000 5 1 0.014758 0.014794 1 1 0 TNFRSF9 3604 broad.mit.edu 37 1 7980927 7980927 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:7980927G>A ENST00000377507.3 - 8 902 c.736C>T c.(736-738)Cca>Tca p.P246S NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 246 Interaction with LRR-1. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) TCTTCTTCTGGAAATCGGCAG 0.373000 24 68 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563587 75563587 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:75563587G>A ENST00000336257.3 - 3 2090 c.696C>T c.(694-696)tcC>tcT p.S232S CHST5_ENST00000541075.1_Silent_p.S238S|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 232 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 CCGCCTCCCGGGAGCGCAGCA 0.706000 22 59 0 0 1 0 0 MDM4 4194 broad.mit.edu 37 1 204511992 204511992 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:204511992C>T ENST00000367182.3 + 8 754 c.592C>T c.(592-594)Ctg>Ttg p.L198L MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000454264.2_Silent_p.L198L|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 198 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGTAGCTGGCCTGCCTTGGTG 0.383000 A """GBM, bladder, retinoblastoma""" 33 45 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43479502 43479502 + Missense_Mutation SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:43479502A>G ENST00000282041.5 - 27 4710 c.4676T>C c.(4675-4677)gTt>gCt p.V1559A EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1559 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATCCAGAGCAACCTGCTGAGA 0.458000 12 32 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74227972 74227972 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:74227972G>A ENST00000316292.9 - 6 2036 c.1045C>T c.(1045-1047)Cat>Tat p.H349Y EEF1A1_ENST00000331523.2_Missense_Mutation_p.H349Y|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.H349Y NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 349 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 TGGCCTGGATGGTTCAGGATA 0.428000 9 32 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46316926 46316926 + Silent SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:46316926A>G ENST00000465950.1 - 3 4182 c.2973T>C c.(2971-2973)agT>agC p.S991S SCAF11_ENST00000419565.2_Silent_p.S1306S|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000369367.3_Silent_p.S1306S|SCAF11_ENST00000549162.1_Silent_p.S1114S Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1306 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CATGAGAAGAACTAGGAATAC 0.373000 8 43 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62209576 62209576 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:62209576C>T ENST00000261517.5 - 60 8092 c.8019G>A c.(8017-8019)cgG>cgA p.R2673R VPS13C_ENST00000395898.3_Silent_p.R2630R|VPS13C_ENST00000249837.3_Silent_p.R2630R|VPS13C_ENST00000395896.4_Silent_p.R2673R NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2673 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GGAGAAGATTCCGCAAAGTGA 0.358000 3 37 0 0 1 0 0 LRRC20 55222 broad.mit.edu 37 10 72100374 72100374 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:72100374G>A ENST00000355790.4 - 3 644 c.167C>T c.(166-168)aCc>aTc p.T56I LRRC20_ENST00000395010.1_Missense_Mutation_p.T56I|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Missense_Mutation_p.T56I|LRRC20_ENST00000395011.1_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 56 endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 GTTAGCCAGGGTGATGAGGTG 0.567000 12 22 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129519150 129519150 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:129519150G>A ENST00000276218.2 - 1 361 c.272C>T c.(271-273)gCc>gTc p.A91V NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 91 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 GAGGACAGAGGCAGCTGCGGA 0.587000 21 76 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799018 16799018 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:16799018C>T ENST00000187762.2 + 6 827 c.736C>T c.(736-738)Ccc>Tcc p.P246S NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 246 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 CTACATCTGCCCCGTGCTGTT 0.632000 85 298 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183600831 183600831 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:183600831G>A ENST00000511685.1 + 8 1462 c.1339G>A c.(1339-1341)Gag>Aag p.E447K TENM3_ENST00000406950.2_Missense_Mutation_p.E447K teneurin transmembrane protein 3 TGACTTCGTGGAGCTCCTGGA 0.537000 18 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179398154 179398154 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:179398154C>T ENST00000589042.1 - 358 103412 c.103188G>A c.(103186-103188)tgG>tgA p.W34396* TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32755*|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W31828*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25331*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25456*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25523*|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32755 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) CATCTTTCTCCCATTTTAATG 0.468000 13 33 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26688387 26688387 + Missense_Mutation SNP G G C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:26688387G>C ENST00000436292.1 - 7 1450 c.1330C>G c.(1330-1332)Cac>Gac p.H444D ZNF683_ENST00000374204.1_Missense_Mutation_p.H424D|ZNF683_ENST00000349618.3_Missense_Mutation_p.H424D|ZNF683_ENST00000403843.1_Missense_Mutation_p.H444D Q8IZ20 ZN683_HUMAN zinc finger protein 683 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) AGCCGATGGTGCAGCTTCAGG 0.667000 13 36 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24250784 24250784 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:24250784G>A ENST00000256412.4 + 3 437 c.217G>A c.(217-219)Gaa>Aaa p.E73K ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_5'UTR NM_014479.3 NP_055294.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 73 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GGAAAGGTATGAACCTGAAGT 0.289000 5 26 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184105217 184105217 + Silent SNP C C T rs144610754 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:184105217C>T ENST00000204604.1 + 19 2649 c.2403C>T c.(2401-2403)ccC>ccT p.P801P CHRD_ENST00000348986.3_Silent_p.P761P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.P343P|CHRD_ENST00000450923.1_Silent_p.P801P NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 801 VWFC 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding p.P801P(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGTGGCACCCCGTTGTGCCCC 0.592000 14 29 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080314 5080314 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:5080314C>T ENST00000321522.2 - 1 543 c.544G>A c.(544-546)Gag>Aag p.E182K NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCATGTGCTCACAGTAGGTG 0.398000 3 20 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87492144 87492144 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:87492144A>T ENST00000296595.6 - 12 1472 c.1348T>A c.(1348-1350)Ttt>Att p.F450I TMEM161B_ENST00000506536.1_3'UTR|TMEM161B_ENST00000511218.1_Missense_Mutation_p.F241I|TMEM161B_ENST00000512429.1_Missense_Mutation_p.F439I|TMEM161B_ENST00000514135.1_Intron NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 450 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AGAGGAGTAAAAATATTTTTT 0.393000 5 28 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30128214 30128214 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:30128214G>A ENST00000449742.2 - 1 497 c.422C>T c.(421-423)cCc>cTc p.P141L TRIM10_ENST00000376704.3_Missense_Mutation_p.P141L NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 141 cytoplasm zinc ion binding ovary(1) 1 TACCCTATAGGGAGCCGCTGC 0.577000 18 35 0 0 1 0 0 LOC286059 286059 broad.mit.edu 37 8 22938900 22938900 + RNA SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:22938900C>T ENST00000501897.1 + 0 404 NR_038873.1 GTGAAAGAATCCCTTCAGGAA 0.478000 4 19 0 0 1 0 0 DEFA6 1671 broad.mit.edu 37 8 6782433 6782433 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:6782433G>A ENST00000297436.2 - 2 250 c.210C>T c.(208-210)ttC>ttT p.F70F NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 70 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) AATGGCAAGTGAAAGCCCTTG 0.493000 11 25 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34485777 34485777 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:34485777A>T ENST00000241052.4 + 10 1410 c.1321A>T c.(1321-1323)Act>Tct p.T441S NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 441 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) TGATAACGTTACTCAGGTAAT 0.483000 12 69 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46347328 46347328 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:46347328C>T ENST00000245934.7 - 8 1051 c.807G>A c.(805-807)atG>atA p.M269I NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 269 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CAGACATGAACATGGGTCTCT 0.567000 19 66 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43274688 43274688 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:43274688G>A ENST00000422911.1 - 5 737 c.636C>T c.(634-636)ggC>ggT p.G212G PRDM15_ENST00000538201.1_Silent_p.G175G|PRDM15_ENST00000398548.1_Silent_p.G212G|PRDM15_ENST00000269844.3_Silent_p.G541G|PRDM15_ENST00000447207.2_Silent_p.G175G P57071 PRD15_HUMAN PR domain containing 15 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GGACGCCAGAGCCGGCCTGCT 0.642000 11 62 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92446921 92446921 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:92446921G>A ENST00000370389.2 + 11 2552 c.1628G>A c.(1627-1629)aGa>aAa p.R543K BRDT_ENST00000394530.3_Missense_Mutation_p.R570K|BRDT_ENST00000399546.2_Missense_Mutation_p.R616K|BRDT_ENST00000402388.1_Missense_Mutation_p.R616K|BRDT_ENST00000362005.3_Missense_Mutation_p.R616K NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTAAATTCTAGAAAACGTCAA 0.353000 3 24 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84800642 84800642 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:84800642G>A ENST00000389394.3 + 12 1992 c.1855G>A c.(1855-1857)Gaa>Aaa p.E619K DNAH6_ENST00000398278.2_Missense_Mutation_p.E619K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E619K NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 619 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 AGCTACCTTTGAAAAGTTCCA 0.343000 8 57 0 0 1 0 0 GUF1 60558 broad.mit.edu 37 4 44691374 44691374 + Missense_Mutation SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:44691374T>G ENST00000281543.5 + 10 1344 c.1150T>G c.(1150-1152)Tcc>Gcc p.S384A GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 384 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 TTTAAATGATTCCAGTGTGAC 0.398000 16 46 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248023993 248023993 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:248023993G>A ENST00000366481.3 + 2 543 c.495G>A c.(493-495)ggG>ggA p.G165G NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 165 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCAACGTGGGGAAAAAGACTG 0.478000 7 25 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878756 5878756 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:5878756C>T ENST00000537935.1 - 1 208 c.177G>A c.(175-177)caG>caA p.Q59Q TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGGAGACTCTGCTCAGTCT 0.468000 19 56 0 0 1 0 0 LIME1 54923 broad.mit.edu 37 20 62370125 62370125 + Missense_Mutation SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:62370125T>G ENST00000309546.3 + 6 847 c.760T>G c.(760-762)Tat>Gat p.Y254D ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR NM_017806.2 NP_060276.2 Lck interacting transmembrane adaptor 1 kidney(1)|large_intestine(1)|liver(1) 3 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GGAAAACGTGTATGAGAGCAT 0.701000 9 27 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48739252 48739252 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:48739252C>T ENST00000544117.2 - 4 1032 c.324G>A c.(322-324)ctG>ctA p.L108L ZNF641_ENST00000301042.3_Silent_p.L108L|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Silent_p.L94L Q96N77 ZN641_HUMAN zinc finger protein 641 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TGATGGTTACCAGGCCCTGAA 0.458000 8 35 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202911260 202911260 + Missense_Mutation SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:202911260C>A ENST00000340990.5 - 7 1190 c.892G>T c.(892-894)Ggc>Tgc p.G298C ADIPOR1_ENST00000436244.1_Missense_Mutation_p.G298C NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 298 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) CCCATCTGGCCCACTGTGGTG 0.532000 5 51 1.024e-07 1.04306e-07 1 1 0 SUV420H1 51111 broad.mit.edu 37 11 67926252 67926252 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:67926252G>A ENST00000304363.4 - 11 1914 c.1561C>T c.(1561-1563)Cct>Tct p.P521S NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CCTCTCACAGGATTCTGTCTG 0.552000 12 71 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349046 150349046 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:150349046G>A ENST00000218316.3 + 2 1060 c.991G>A c.(991-993)Gag>Aag p.E331K NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 331 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity p.E331K(2) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TGAGATGCAGGAGGCCCGTAC 0.557000 43 50 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1418728 1418728 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:1418728G>A ENST00000446702.2 + 17 2762 c.2135G>A c.(2134-2136)gGa>gAa p.G712E CNTN6_ENST00000350110.2_Missense_Mutation_p.G712E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G640E Q9UQ52 CNTN6_HUMAN contactin 6 712 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGAGGTGGAGGAAGTCGGTCT 0.403000 12 59 0 0 1 0 0 ZNF764 92595 broad.mit.edu 37 16 30567174 30567174 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:30567174G>A ENST00000395091.2 - 3 880 c.565C>T c.(565-567)Ctg>Ttg p.L189L AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Silent_p.L190L Q96H86 ZN764_HUMAN zinc finger protein 764 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 TGCTCCACCAGTGTGGAGCGC 0.667000 8 18 0 0 1 0 0 TCF23 150921 broad.mit.edu 37 2 27373088 27373088 + Missense_Mutation SNP C C G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:27373088C>G ENST00000296096.5 + 2 450 c.320C>G c.(319-321)cCg>cGg p.P107R NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 107 Helix-loop-helix motif. cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGCCGTGCCGCCCGACACC 0.692000 26 71 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56958729 56958729 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:56958729G>A ENST00000559237.1 - 15 2502 c.1819C>T c.(1819-1821)Cgt>Tgt p.R607C ZNF280D_ENST00000396245.1_Missense_Mutation_p.R324C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.R620C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R607C NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) ATGCCCCGACGATACCTTAGG 0.313000 4 36 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505705 159505705 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:159505705G>A ENST00000334857.2 - 1 137 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AGACAGTTAGGAAAACCACAA 0.378000 14 87 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762727 130762727 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:130762727C>T ENST00000392429.1 + 2 3538 c.1160C>T c.(1159-1161)tCc>tTc p.S387F TMEM200A_ENST00000296978.3_Missense_Mutation_p.S387F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S387F NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 387 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TCCAATACATCCTTGCATTTG 0.527000 7 47 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 140001789 140001789 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:140001789C>T ENST00000371589.4 + 11 1727 c.1654C>T c.(1654-1656)Ctc>Ttc p.L552F MAN1B1_ENST00000474902.1_Missense_Mutation_p.L255F|MAN1B1_ENST00000540391.1_3'UTR NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 552 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) GGCCCAGGAGCTCATGGAGAC 0.642000 25 49 0 0 1 0 0 RPS4X 6191 broad.mit.edu 37 X 71493688 71493688 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:71493688C>T ENST00000316084.6 - 5 599 c.495G>A c.(493-495)gaG>gaA p.E165E RPS4X_ENST00000486733.1_5'UTR NM_001007.4 NP_000998.1 P62701 RS4X_HUMAN ribosomal protein S4, X-linked 165 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome NS(1)|large_intestine(1) 2 Renal(35;0.156) TCTTGCCAGTCTCCAAATCAA 0.478000 7 2 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72343410 72343410 + Silent SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:72343410G>T ENST00000299687.5 + 1 435 c.435G>T c.(433-435)ctG>ctT p.L145L ZNF407_ENST00000582337.1_Silent_p.L145L|ZNF407_ENST00000309902.6_Silent_p.L145L|ZNF407_ENST00000577538.1_Silent_p.L145L NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TTGTTTCTCTGAAAACAGACA 0.438000 12 34 1.36491e-13 1.41132e-13 1 1 0 POLQ 10721 broad.mit.edu 37 3 121151191 121151191 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:121151191A>T ENST00000264233.5 - 30 7861 c.7733T>A c.(7732-7734)aTa>aAa p.I2578K NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2578 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GCTGGCGCCTATTTTCACTTT 0.418000 DNA polymerases (catalytic subunits) 10 48 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57860100 57860100 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:57860100G>A ENST00000228682.2 + 8 931 c.840G>A c.(838-840)agG>agA p.R280R GLI1_ENST00000546141.1_Silent_p.R239R|GLI1_ENST00000543426.1_Silent_p.R152R NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 280 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GGGAGCTGAGGCCCTTCAAAG 0.602000 23 93 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167882394 167882394 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:167882394C>T ENST00000265293.4 + 19 3194 c.2692C>T c.(2692-2694)Cca>Tca p.P898S WWC1_ENST00000521089.1_Missense_Mutation_p.P898S|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 898 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GACCCCGGCCCCATCCCCCAC 0.607000 21 97 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111078209 111078209 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:111078209G>A ENST00000262839.2 - 7 2754 c.1836C>T c.(1834-1836)tcC>tcT p.S612S NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 612 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCACTACCAGGGAGATGACAT 0.418000 71 102 0 0 1 0 0 TOPBP1 11073 broad.mit.edu 37 3 133336016 133336016 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:133336016G>A ENST00000260810.5 - 22 3878 c.3747C>T c.(3745-3747)caC>caT p.H1249H NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1249 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TTTCTCTAGGGTGCGGAGCCA 0.468000 Other conserved DNA damage response genes 7 30 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123518165 123518165 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:123518165G>A ENST00000422452.2 - 30 6679 c.6616C>T c.(6616-6618)Cga>Tga p.R2206* STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Nonsense_Mutation_p.R2199* NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATGCGGTCTCGGAGGTCATAT 0.418000 19 19 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54916089 54916089 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:54916089G>A ENST00000545554.1 + 31 6296 c.6296G>A c.(6295-6297)aGa>aAa p.R2099K UNC13C_ENST00000260323.11_Missense_Mutation_p.R2099K|UNC13C_ENST00000539562.2_Missense_Mutation_p.R20K|UNC13C_ENST00000537900.1_Missense_Mutation_p.R2097K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2099 C2 2. 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) GACAAGAAGAGAAAACAAGGC 0.408000 11 26 0 0 1 0 0 GAS6 2621 broad.mit.edu 37 13 114531652 114531652 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:114531652G>A ENST00000357389.3 - 11 1457 c.1305C>T c.(1303-1305)gtC>gtT p.V435V GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.V338V|GAS6_ENST00000327773.6_Silent_p.V392V|GAS6_ENST00000450766.1_Silent_p.V119V|GAS6_ENST00000418959.3_Silent_p.V93V Q14393 GAS6_HUMAN growth arrest-specific 6 435 Laminin G-like 1. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) TGACCTTGATGACCAGATTCC 0.547000 17 44 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40042035 40042035 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:40042035G>A ENST00000373233.3 - 35 7237 c.7060C>T c.(7060-7062)Ccc>Tcc p.P2354S CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2354 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTCTTGCTGGGAATGGATTTC 0.592000 8 29 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71318529 71318529 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:71318529C>T ENST00000370932.2 - 3 1321 c.1091G>A c.(1090-1092)gGa>gAa p.G364E PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000460330.1_Missense_Mutation_p.G373E|PTGER3_ENST00000370931.3_3'UTR NM_198717.1 NP_942010.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 364 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GTTTTAATTTCCCCAAAATTC 0.338000 36 106 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59620489 59620489 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:59620489G>A ENST00000257264.3 - 9 1365 c.1261C>T c.(1261-1263)Cgc>Tgc p.R421C NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 421 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCTCCATTGCGGACAACGTAA 0.408000 12 100 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 9 40 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23704986 23704986 + Missense_Mutation SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:23704986C>A ENST00000397312.2 - 4 691 c.417G>T c.(415-417)aaG>aaT p.K139N ELAVL2_ENST00000380117.1_Missense_Mutation_p.K139N|ELAVL2_ENST00000380110.4_Missense_Mutation_p.K168N|ELAVL2_ENST00000223951.6_Missense_Mutation_p.K139N|ELAVL2_ENST00000544538.1_Missense_Mutation_p.K139N NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 139 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GTTCCAACTCCTTCTGGGTCA 0.423000 23 38 1.10513e-12 1.13414e-12 1 1 0 MTOR 2475 broad.mit.edu 37 1 11317043 11317043 + Silent SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:11317043G>T ENST00000361445.4 - 4 527 c.451C>A c.(451-453)Cga>Aga p.R151R NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 151 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCCAGGGCTCGCTTCACCTCA 0.572000 7 16 2.0095e-06 2.0393e-06 1 1 0 TTLL5 23093 broad.mit.edu 37 14 76330135 76330135 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:76330135C>T ENST00000298832.9 + 29 3657 c.3452C>T c.(3451-3453)gCc>gTc p.A1151V TTLL5_ENST00000554510.1_Missense_Mutation_p.A660V|TTLL5_ENST00000557636.1_Missense_Mutation_p.A1166V|TTLL5_ENST00000556893.1_Missense_Mutation_p.A702V NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1151 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CTTCAATTTGCCCTGCAGCAA 0.517000 19 62 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889227 147889227 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:147889227G>A ENST00000360693.3 - 6 1006 c.868C>T c.(868-870)Cct>Tct p.P290S HTR4_ENST00000517929.1_Missense_Mutation_p.P290S|HTR4_ENST00000354217.2_Missense_Mutation_p.P290S|HTR4_ENST00000521735.1_Missense_Mutation_p.P290S|HTR4_ENST00000521530.1_Missense_Mutation_p.P290S|HTR4_ENST00000314512.6_Missense_Mutation_p.P290S|HTR4_ENST00000520514.1_Missense_Mutation_p.P290S|HTR4_ENST00000362016.2_Missense_Mutation_p.P304S|HTR4_ENST00000377888.3_Missense_Mutation_p.P290S NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 290 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) ACCTGCCCAGGGACAGTGTAG 0.493000 10 29 0 0 1 0 0 INPP5K 51763 broad.mit.edu 37 17 1401344 1401344 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:1401344G>A ENST00000406424.4 - 10 1481 c.621C>T c.(619-621)ccC>ccT p.P207P INPP5K_ENST00000542125.1_Silent_p.P187P|INPP5K_ENST00000320345.6_Silent_p.P207P|INPP5K_ENST00000421807.2_Silent_p.P283P|INPP5K_ENST00000397335.3_Silent_p.P191P NM_001135642.1 NP_001129114.1 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K 283 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 TGGGAGTGTCGGGGCCAGCAC 0.612000 4 207 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083882 9083882 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:9083882G>A ENST00000397910.4 - 1 8136 c.7933C>T c.(7933-7935)Ccg>Tcg p.P2645S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2645 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 GGAGTGTCCGGGAGTAAAGTA 0.488000 6 19 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52860648 52860648 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:52860648G>A ENST00000343457.3 - 4 2546 c.2540C>T c.(2539-2541)tCa>tTa p.S847L NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 847 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GTCCACATTTGAAAATTCTAA 0.423000 9 34 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5085329 5085329 + Silent SNP G G C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:5085329G>C ENST00000399604.4 - 1 2363 c.2223C>G c.(2221-2223)acC>acG p.T741T ZNF594_ENST00000575779.1_Silent_p.T741T Q96JF6 ZN594_HUMAN zinc finger protein 594 741 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CCTTGCTGAAGGTTTTCTCAC 0.443000 38 155 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398203 77398203 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:77398203G>A ENST00000282849.5 - 5 1272 c.854C>T c.(853-855)tCa>tTa p.S285L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 285 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.S285*(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTTTCCAGCTGATCTTCTGGG 0.483000 8 44 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68248218 68248218 + Silent SNP G G T rs138543433 byFrequency TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:68248218G>T ENST00000347230.4 - 22 4539 c.4401C>A c.(4399-4401)ccC>ccA p.P1467P ZFYVE26_ENST00000555452.1_Silent_p.P1467P NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1467 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CATCCTTCACGGGAAACAGGT 0.502000 6 46 3.59834e-05 3.64271e-05 1 1 0 ADARB2 105 broad.mit.edu 37 10 1230943 1230943 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:1230943G>A ENST00000381312.1 - 9 2226 c.1901C>T c.(1900-1902)tCg>tTg p.S634L ADARB2_ENST00000381305.1_Missense_Mutation_p.S36L|ADARB2_ENST00000381310.3_Missense_Mutation_p.S143L NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 634 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GAAGGGGGGCGACTTCCCCGG 0.682000 15 15 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121783716 121783716 + Missense_Mutation SNP A A C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:121783716A>C ENST00000261819.3 - 4 637 c.516T>G c.(514-516)gaT>gaG p.D172E ANAPC5_ENST00000536366.1_Missense_Mutation_p.D51E|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D172E|ANAPC5_ENST00000441917.2_Missense_Mutation_p.D73E|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D73E NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 172 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(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCATATCAGCATCCTCCACTG 0.413000 4 174 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96772020 96772020 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:96772020G>A ENST00000359933.4 - 31 5532 c.4639C>T c.(4639-4641)Cgc>Tgc p.R1547C ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1547 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ACCACATAGCGAATCACAGGA 0.433000 3 43 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42415028 42415028 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:42415028C>T ENST00000381668.5 - 37 3631 c.3400G>A c.(3400-3402)Ggg>Agg p.G1134R ATP8A1_ENST00000264449.10_Missense_Mutation_p.G1119R NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 1134 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) AACGCATACCCATCTGTAGGT 0.423000 4 16 0 0 1 0 0 IGKV1-12 28940 broad.mit.edu 37 2 89339753 89339753 + RNA SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:89339753T>C ENST00000480492.1 - 0 365 CAATAGTAAGTTGCAAAATCT 0.522000 20 92 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000423 56000423 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:56000423C>T ENST00000313264.4 - 1 314 c.239G>A c.(238-240)gGa>gAa p.G80E NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G80E(1) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TCCTAAATTTCCCATGAGAGT 0.413000 13 29 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21231412 21231412 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:21231412G>A ENST00000602326.1 - 13 2149 c.1566C>T c.(1564-1566)acC>acT p.T522T EIF4G3_ENST00000400422.1_Silent_p.T516T|EIF4G3_ENST00000544689.1_Silent_p.T59T|EIF4G3_ENST00000536266.1_Silent_p.T120T|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Silent_p.T236T|EIF4G3_ENST00000264211.8_Silent_p.T516T|EIF4G3_ENST00000374937.3_Silent_p.T522T NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 516 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CAGTGGTTCGGGTCCGATCTT 0.413000 8 64 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73932596 73932596 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:73932596C>T ENST00000476977.1 + 5 2240 c.549C>T c.(547-549)ccC>ccT p.P183P GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.P215P|GTF2IRD1_ENST00000265755.3_Silent_p.P183P|GTF2IRD1_ENST00000424337.2_Silent_p.P183P Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 183 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGTATGACCCCAAGGCCCTCA 0.682000 5 29 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 54060312 54060312 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:54060312G>A ENST00000312233.2 - 3 830 c.264C>T c.(262-264)tcC>tcT p.S88S NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 88 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|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 AGCGGATGATGGAGGTGACGT 0.687000 14 34 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125660611 125660611 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:125660611G>A ENST00000431078.1 + 22 3950 c.3586G>A c.(3586-3588)Gaa>Aaa p.E1196K NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1196 Laminin G-like 4. 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) GACCTTGACGGAATCCAGCTG 0.547000 4 10 0 0 1 0 0 ICAM4 3386 broad.mit.edu 37 19 10398498 10398498 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:10398498C>T ENST00000340992.4 + 2 643 c.604C>T c.(604-606)Cat>Tat p.H202Y ICAM4_ENST00000380770.3_Silent_p.P227P|ICAM4_ENST00000393717.2_Silent_p.P227P|CTD-2369P2.8_ENST00000589379.1_RNA NM_001039132.2 NP_001034221.1 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 0 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCTCGGCACCCATTACACTGA 0.637000 23 99 0 0 1 0 0 SLC35A5 55032 broad.mit.edu 37 3 112299604 112299604 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:112299604G>A ENST00000492406.1 + 6 923 c.640G>A c.(640-642)Gaa>Aaa p.E214K SLC35A5_ENST00000460713.1_3'UTR NM_017945.2 NP_060415.1 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 214 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1) 11 GACTTTTCCTGAAGCTAAATG 0.423000 4 40 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165218847 165218847 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:165218847G>A ENST00000342310.3 - 4 676 c.294C>T c.(292-294)ttC>ttT p.F98F LMX1A_ENST00000367893.4_Silent_p.F98F|LMX1A_ENST00000294816.2_Silent_p.F98F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 98 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CGATGGCCTCGAAGCAGCCCC 0.542000 4 18 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21240381 21240381 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:21240381C>T ENST00000261560.5 + 5 1448 c.1267C>T c.(1267-1269)Cat>Tat p.H423Y NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 TAAAAGAATTCATACTGGAGA 0.353000 8 30 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45658338 45658338 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:45658338G>A ENST00000396659.3 - 6 1223 c.884C>T c.(883-885)tCc>tTc p.S295F GATM_ENST00000558336.1_Missense_Mutation_p.S295F NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 295 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) ATCTTTAAAGGAGATGATATG 0.433000 6 45 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121746388 121746388 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:121746388G>A ENST00000261819.3 - 17 2284 c.2163C>T c.(2161-2163)taC>taT p.Y721Y ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.Y708Y|ANAPC5_ENST00000441917.2_Silent_p.Y609Y|ANAPC5_ENST00000535482.1_Silent_p.Y387Y|ANAPC5_ENST00000344395.4_Silent_p.Y609Y NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 721 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(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAGGGTATGGTAGAGTCTGG 0.542000 19 69 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144097313 144097313 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:144097313G>A ENST00000467773.1 - 5 936 c.937C>T c.(937-939)Ccc>Tcc p.P313S NOBOX_ENST00000483238.1_Missense_Mutation_p.P313S|NOBOX_ENST00000223140.5_Missense_Mutation_p.P228S NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 313 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) ATGCGCTGGGGGGTCACCCCC 0.572000 17 52 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196973942 196973942 + Missense_Mutation SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:196973942T>G ENST00000367414.5 + 9 1610 c.1554T>G c.(1552-1554)aaT>aaG p.N518K CFHR5_ENST00000256785.4_Missense_Mutation_p.N494K NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 494 Sushi 9. 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 CATGCAGAAATAAACAGTGGT 0.388000 18 41 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42788274 42788274 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:42788274C>T ENST00000372980.3 - 2 2025 c.1153G>A c.(1153-1155)Gag>Aag p.E385K NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 385 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCGGCAATCTCGGCCTTCTGG 0.682000 9 16 0 0 1 0 0 ELANE 1991 broad.mit.edu 37 19 853268 853268 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:853268C>T ENST00000590230.1 + 4 372 c.231C>T c.(229-231)gtC>gtT p.V77V ELANE_ENST00000263621.1_Silent_p.V77V P08246 ELNE_HUMAN elastase, neutrophil expressed 77 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GCAGAAACGTCCGCGCGGTGC 0.741000 5 12 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238178 126238178 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:126238178C>T ENST00000394329.3 + 1 625 c.612C>T c.(610-612)tcC>tcT p.S204S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 204 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCTGGTGTCCAAGGGCGGAC 0.642000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55062969 55062969 + RNA SNP T T A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:55062969T>A ENST00000526016.1 - 0 668 NR_038174.2 TATGGCACATTTTCTTCAGAT 0.443000 9 24 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651504 84651504 + Missense_Mutation SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:84651504G>T ENST00000286744.5 + 21 3348 c.3124G>T c.(3124-3126)Gac>Tac p.D1042Y ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1042Y NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1042 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TAACAAAAATGACCTTTATCT 0.473000 8 38 0.00621372 0.00624414 1 1 0 PLEKHH2 130271 broad.mit.edu 37 2 43984263 43984263 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:43984263G>A ENST00000282406.4 + 26 3911 c.3801G>A c.(3799-3801)gaG>gaA p.E1267E NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1267 FERM. 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) ATTAGGTAGAGATTGGAGATT 0.303000 5 33 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10463611 10463611 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:10463611G>A ENST00000525621.1 - 22 3672 c.3191C>T c.(3190-3192)cCc>cTc p.P1064L TYK2_ENST00000524462.1_Missense_Mutation_p.P879L|TYK2_ENST00000264818.6_Missense_Mutation_p.P1064L|TYK2_ENST00000529422.1_Intron NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 1064 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCAGAACACGGGGCTGTCCCC 0.632000 4 53 0 0 1 0 0 CEACAM19 56971 broad.mit.edu 37 19 45175893 45175893 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:45175893C>T ENST00000358777.4 + 2 561 c.81C>T c.(79-81)ctC>ctT p.L27L CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Silent_p.L27L|CTB-171A8.1_ENST00000590796.1_RNA NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 27 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) TCTGGATGCTCCAAGGCTCCC 0.562000 14 44 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174573 63174573 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:63174573G>A ENST00000322893.7 - 11 2888 c.2620C>T c.(2620-2622)Cgt>Tgt p.R874C KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 874 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTATCCAAACGAAGGTCACTT 0.507000 18 55 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196887394 196887394 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:196887394G>A ENST00000367416.2 + 10 1729 c.1592G>A c.(1591-1593)gGa>gAa p.G531E CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.G285E|CFHR4_ENST00000251424.4_Missense_Mutation_p.G285E NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.G285E(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 CAGTTAAAAGGAAAAAGTGAC 0.279000 15 48 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29008254 29008254 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:29008254G>A ENST00000282397.4 - 5 868 c.617C>T c.(616-618)aCc>aTc p.T206I FLT1_ENST00000541932.1_Missense_Mutation_p.T206I|FLT1_ENST00000539099.1_Missense_Mutation_p.T206I NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 206 Ig-like C2-type 2. 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 p.T206N(2) 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) TGCTTCACAGGTCAGAAGCCC 0.418000 9 41 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994865 140994865 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:140994865C>T ENST00000285879.4 + 4 1961 c.1675C>T c.(1675-1677)Cta>Tta p.L559L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 559 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGACTCCCTATCTCCTCA 0.577000 HNSCC(15;0.026) 129 110 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62782218 62782218 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:62782218C>T ENST00000336232.2 - 2 348 c.213G>A c.(211-213)gaG>gaA p.E71E SLC22A8_ENST00000430500.2_Silent_p.E71E|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.E71E|SLC22A8_ENST00000545207.1_Intron NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 71 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 GGAGGCACCTCTCAGGCTTCC 0.627000 32 155 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123518166 123518166 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:123518166G>A ENST00000422452.2 - 30 6678 c.6615C>T c.(6613-6615)ctC>ctT p.L2205L STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.L2198L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGCGGTCTCGGAGGTCATATC 0.413000 18 18 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245848836 245848836 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:245848836G>A ENST00000366518.4 + 9 1512 c.1408G>A c.(1408-1410)Gac>Aac p.D470N KIF26B_ENST00000407071.2_Missense_Mutation_p.D851N Q2KJY2 KI26B_HUMAN kinesin family member 26B 851 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) CCTGTCCAGCGACCCCGACTA 0.652000 10 44 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51853752 51853752 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:51853752G>A ENST00000453097.2 + 8 1090 c.873G>A c.(871-873)atG>atA p.M291I SLC4A8_ENST00000535225.2_Missense_Mutation_p.M238I|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M318I|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M238I|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M238I NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 291 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TTCATTTCATGAAAAAAATTC 0.413000 22 93 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145631425 145631425 + Silent SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:145631425C>A ENST00000265271.5 + 9 1597 c.1431C>A c.(1429-1431)acC>acA p.T477T RBM27_ENST00000506502.1_Intron NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 477 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGCCCTACCCCTCTGGTTC 0.547000 52 128 2.76378e-25 2.87224e-25 1 1 0 ABCD2 225 broad.mit.edu 37 12 39980086 39980086 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:39980086G>A ENST00000308666.3 - 7 1795 c.1660C>T c.(1660-1662)Ctt>Ttt p.L554F NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 554 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 AGACTTCCAAGAGACATATAT 0.393000 9 36 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148861632 148861632 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:148861632C>T ENST00000367467.3 + 17 2624 c.2149C>T c.(2149-2151)Ctg>Ttg p.L717L NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 717 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CAGCCAGGGCCTGAGTGGATG 0.527000 4 14 0 0 1 0 0 SDE2 163859 broad.mit.edu 37 1 226180625 226180625 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:226180625C>T ENST00000272091.7 - 3 335 c.317G>A c.(316-318)gGa>gAa p.G106E SDE2_ENST00000366817.1_Intron NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) TAGTCTCCTTCCACTGAGATC 0.418000 14 34 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:42538870A>C ENST00000433992.1 - 0 475 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 5 30 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38758136 38758136 + Silent SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:38758136A>G ENST00000359357.3 + 18 2339 c.2085A>G c.(2083-2085)caA>caG p.Q695Q DNAH8_ENST00000449981.2_Silent_p.Q912Q|DNAH8_ENST00000441566.1_Silent_p.Q695Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GCTTCTTTCAAGAAGTCGAAT 0.338000 17 46 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94275871 94275871 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:94275871C>T ENST00000515393.1 - 5 1089 c.1090G>A c.(1090-1092)Gat>Aat p.D364N MCTP1_ENST00000429576.2_Missense_Mutation_p.D143N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D143N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D143N NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 364 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TAATGAGGATCTTTCAGAGTA 0.383000 21 65 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56657115 56657115 + Silent SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:56657115A>G ENST00000431842.2 - 17 4576 c.3652T>C c.(3652-3654)Tta>Cta p.L1218L FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000355628.5_Silent_p.L1594L NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 1655 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 CCCCAACTTAAGGGAGGTGGA 0.353000 5 42 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238050087 238050087 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:238050087G>A ENST00000366570.4 - 6 981 c.823C>T c.(823-825)Cgt>Tgt p.R275C RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 275 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.R275G(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATGCTGTCACGAGTGACAGAG 0.488000 32 45 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41162268 41162268 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:41162268G>A ENST00000483722.1 - 3 865 c.680C>T c.(679-681)tCc>tTc p.S227F NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 227 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) AGTGGAGATGGATTCTGGGCC 0.627000 5 17 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687550 61687550 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:61687550C>T ENST00000577390.1 - 12 3316 c.2362G>A c.(2362-2364)Gaa>Aaa p.E788K CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 788 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E788K(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GAGTAGAGTTCGCCCAGTCTC 0.473000 22 51 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124094997 124094997 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:124094997C>T ENST00000287380.1 + 3 370 c.280C>T c.(280-282)Cgt>Tgt p.R94C TBC1D31_ENST00000309336.3_Missense_Mutation_p.R94C|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000522420.1_Intron|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R94C|TBC1D31_ENST00000521676.1_Intron NM_145647.3 NP_663622.2 TBC1 domain family, member 31 CTTTAATCTTCGTAGGAAATC 0.343000 7 31 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36275968 36275968 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:36275968G>A ENST00000007510.4 + 17 1825 c.1681G>A c.(1681-1683)Gag>Aag p.E561K ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E561K|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.E425K O14559 RHG33_HUMAN Rho GTPase activating protein 33 561 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GACGCCCACGGAGCCCACAAC 0.726000 3 6 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132399019 132399019 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:132399019G>A ENST00000331898.7 - 3 1040 c.462C>T c.(460-462)acC>acT p.T154T OPCML_ENST00000541867.1_Silent_p.T154T|OPCML_ENST00000374778.4_Silent_p.T113T|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.T147T NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 154 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity p.T147T(1)|p.T154T(1) endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GACACAGCAGGGTCACACTGC 0.473000 5 35 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32476006 32476006 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:32476006G>A ENST00000404025.2 - 5 1415 c.927C>T c.(925-927)atC>atT p.I309I NLRC4_ENST00000360906.5_Silent_p.I309I|NLRC4_ENST00000402280.1_Silent_p.I309I|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 309 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCACTTCTCGGATGAGAGCCT 0.532000 17 41 0 0 1 0 0 HIGD2B 123346 broad.mit.edu 37 15 72968607 72968607 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:72968607C>T ENST00000311755.3 - 3 632 c.109G>A c.(109-111)Gaa>Aaa p.E37K HIG1 hypoxia inducible domain family, member 2B AGGAACTTTTCCTTGAAACCC 0.577000 3 15 0 0 1 0 0 PMCH 5367 broad.mit.edu 37 12 102590799 102590799 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:102590799C>T ENST00000329406.4 - 2 474 c.400G>A c.(400-402)Gat>Aat p.D134N PARPBP_ENST00000327680.2_3'UTR|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000535811.1_3'UTR NM_002674.2 NP_002665.2 P20382 MCH_HUMAN pro-melanin-concentrating hormone 134 cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission melanin-concentrating hormone activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 6 TTTTCTTCATCCCCAATTTCT 0.363000 5 31 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541273 55541273 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:55541273C>T ENST00000220676.1 + 4 4979 c.4831C>T c.(4831-4833)Ccc>Tcc p.P1611S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1611 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAGTGATGATCCCAATGACAG 0.383000 21 53 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46884198 46884198 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:46884198G>A ENST00000378623.1 - 37 5586 c.5344C>T c.(5344-5346)Ccc>Tcc p.P1782S LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1782 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GCTGGTTTGGGGATTGCTTCA 0.443000 7 72 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35770194 35770194 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:35770194G>A ENST00000540320.1 + 31 5655 c.5121G>A c.(5119-5121)ttG>ttA p.L1707L NBEA_ENST00000379939.2_Silent_p.L1704L|NBEA_ENST00000310336.4_Silent_p.L1707L|NBEA_ENST00000400445.3_Silent_p.L1707L Q8NFP9 NBEA_HUMAN neurobeachin 1707 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TATCCACTTTGTCATCCGAAG 0.433000 6 38 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857733 90857733 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:90857733G>A ENST00000394980.1 + 7 3221 c.2902G>A c.(2902-2904)Gaa>Aaa p.E968K MMRN1_ENST00000508372.1_Missense_Mutation_p.E710K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E968K|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 968 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) AGAATTTGTGGAACCAATAAT 0.378000 9 33 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117718148 117718148 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:117718148G>A ENST00000368508.3 - 7 907 c.709C>T c.(709-711)Caa>Taa p.Q237* GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.Q246* NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 237 Fibronectin type-III 2. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCTAATTTTTGATTTTTGCTG 0.413000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 15 72 0 0 1 0 0 APRT 353 broad.mit.edu 37 16 88876198 88876198 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:88876198G>A ENST00000378364.3 - 5 495 c.451C>T c.(451-453)Ctg>Ttg p.L151L APRT_ENST00000563655.1_Silent_p.L124L|APRT_ENST00000426324.2_Intron NM_000485.2 NP_000476.1 P07741 APT_HUMAN adenine phosphoribosyltransferase 151 purine ribonucleoside salvage cytosol|nucleus adenine phosphoribosyltransferase activity|AMP binding|protein binding cervix(1)|endometrium(1)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) ACGCACTCCAGGACCTCAGCC 0.632000 5 44 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54312879 54312879 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:54312879C>T ENST00000324134.6 - 3 2202 c.2034G>A c.(2032-2034)gcG>gcA p.A678A NLRP12_ENST00000391775.3_Silent_p.A678A|NLRP12_ENST00000391773.1_Silent_p.A678A|NLRP12_ENST00000354278.3_Silent_p.A678A|NLRP12_ENST00000391772.1_Silent_p.A678A|NLRP12_ENST00000535162.1_Silent_p.A678A|NLRP12_ENST00000351894.4_Silent_p.A678A|NLRP12_ENST00000345770.5_Silent_p.A678A NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 678 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) CGGAGCACCTCGCGCGGTCTT 0.582000 3 32 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198672472 198672472 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:198672472G>A ENST00000367376.2 + 7 794 c.623G>A c.(622-624)gGa>gAa p.G208E PTPRC_ENST00000348564.6_Missense_Mutation_p.G49E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G210E|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.G160E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G47E NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 208 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGCCCTTCTGGAAGCGCTGTC 0.438000 34 126 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611958 44611958 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:44611958C>T ENST00000273320.3 + 6 1785 c.1356C>T c.(1354-1356)tcC>tcT p.S452S ZKSCAN7_ENST00000426540.1_Silent_p.S452S|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 GGCACAGCTCCCATCTCATTC 0.478000 9 16 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 52905928 52905928 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:52905928G>A ENST00000281741.4 - 20 2559 c.2188C>T c.(2188-2190)Cat>Tat p.H730Y NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 730 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) TTACTGATATGATTTTCTAGT 0.333000 8 17 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2156471 2156471 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:2156471C>T ENST00000262304.4 - 18 7625 c.7417G>A c.(7417-7419)Ggg>Agg p.G2473R PKD1_ENST00000423118.1_Missense_Mutation_p.G2473R NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2473 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 CAAGAGCCCCCCAGCGGCGGG 0.706000 5 14 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226829796 226829796 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:226829796G>A ENST00000429204.1 - 5 2604 c.2277C>T c.(2275-2277)gcC>gcT p.A759A ITPKB_ENST00000272117.3_Silent_p.A759A NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 759 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCTTCTTCCGGGCCTTCGTGA 0.647000 67 121 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23828960 23828960 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:23828960C>T ENST00000216733.3 - 4 1334 c.727G>A c.(727-729)Ggg>Agg p.G243R EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.G150R NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 243 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CCGCCCTCCCCGTCTGCCAGC 0.647000 8 74 0 0 1 0 0 TIPRL 261726 broad.mit.edu 37 1 168153290 168153290 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:168153290G>A ENST00000367833.2 + 2 400 c.255G>A c.(253-255)gtG>gtA p.V85V TIPRL_ENST00000367830.3_Silent_p.V85V NM_152902.3 NP_690866.1 O75663 TIPRL_HUMAN TIP41, TOR signaling pathway regulator-like (S. cerevisiae) 85 DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1) 6 all_hematologic(923;0.215) TGCTTAAAGTGGCCTGTGCTG 0.383000 6 39 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720848 140720848 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:140720848C>T ENST00000394576.2 + 1 2310 c.2310C>T c.(2308-2310)ttC>ttT p.F770F PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGATTTTCCCCCAGCCCA 0.552000 47 79 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929481 4929481 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:4929481G>A ENST00000359350.4 + 1 882 c.882G>A c.(880-882)aaG>aaA p.K294K MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTGTGTAAAGACTCGACAAA 0.408000 13 75 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324832 31324832 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:31324832G>A ENST00000269197.5 + 12 5020 c.5020G>A c.(5020-5022)Gaa>Aaa p.E1674K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGAACTTCACGAAGCAGACAA 0.478000 25 40 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118986926 118986926 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:118986926C>T ENST00000336702.3 + 14 2443 c.2084C>T c.(2083-2085)tCc>tTc p.S695F C2CD2L_ENST00000528586.1_3'UTR NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 694 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 TCCTTCAAATCCAAACCCAAG 0.577000 12 17 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480448 73480448 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:73480448G>A ENST00000523207.1 + 2 1067 c.479G>A c.(478-480)cGa>cAa p.R160Q NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 160 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GAGACTATGCGAGAGCGAGAA 0.463000 8 82 0 0 1 0 0 TUBB1 81027 broad.mit.edu 37 20 57599791 57599791 + Missense_Mutation SNP G G C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:57599791G>C ENST00000217133.1 + 4 1578 c.1309G>C c.(1309-1311)Gag>Cag p.E437Q NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 437 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GGAAGATGAAGAGGTCACGGA 0.443000 5 57 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69045040 69045040 + Missense_Mutation SNP A A C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:69045040A>C ENST00000295381.3 + 8 1333 c.914A>C c.(913-915)aAc>aCc p.N305T ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N266T|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N298T|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N299T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N306T|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.N299T|ARHGAP25_ENST00000479844.1_5'UTR NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 305 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TGTGCTGTTAACAAGATGAGT 0.498000 3 18 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33628324 33628324 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:33628324G>A ENST00000380099.3 + 2 1248 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.E107K NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 414 Glycosyl hydrolase-1 1. 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 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) ATTTATTGTGGAAAATGGCTG 0.408000 26 116 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123937 12123937 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:12123937C>T ENST00000379388.2 + 4 4241 c.3909C>T c.(3907-3909)tcC>tcT p.S1303S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1303 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CCACTCTCTCCAGGAGTCTAA 0.453000 19 33 0 0 1 0 0 UNC93B1 81622 broad.mit.edu 37 11 67767143 67767143 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:67767143C>T ENST00000227471.2 - 4 479 c.400G>A c.(400-402)Gga>Aga p.G134R UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 134 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome CACTTCGTTCCAAAAAACCTG 0.602000 4 10 0 0 1 0 0 LY96 23643 broad.mit.edu 37 8 74917117 74917117 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:74917117C>T ENST00000284818.2 + 2 290 c.199C>T c.(199-201)Cca>Tca p.P67S LY96_ENST00000518893.1_Intron NM_015364.4 NP_056179.3 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 67 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent 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 extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) TTTCTACATTCCAAGTAAGTT 0.269000 11 22 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205027169 205027169 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:205027169G>A ENST00000331830.4 + 3 475 c.191G>A c.(190-192)cGg>cAg p.R64Q NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 64 Ig-like C2-type 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGCCGCGCCCGGGCCAGCCCT 0.642000 9 21 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117307056 117307056 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:117307056G>A ENST00000003084.6 + 27 4469 c.4337G>A c.(4336-4338)aGg>aAg p.R1446K CFTR_ENST00000454343.1_Missense_Mutation_p.R1385K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1446 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CCCTCCGACAGGGTGAAGCTC 0.532000 Cystic Fibrosis 7 28 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257381 16257381 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:16257381A>T ENST00000375759.3 + 11 4850 c.4646A>T c.(4645-4647)aAa>aTa p.K1549I NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1549 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTAGAGAGAAAAGAGGAAGAT 0.418000 4 36 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59620490 59620490 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:59620490G>A ENST00000257264.3 - 9 1364 c.1260C>T c.(1258-1260)gtC>gtT p.V420V NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 420 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTCCATTGCGGACAACGTAAC 0.413000 12 100 0 0 1 0 0 BOLA3 388962 broad.mit.edu 37 2 74362670 74362670 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:74362670G>A ENST00000295326.4 - 3 315 c.285C>T c.(283-285)ttC>ttT p.F95F BOLA3_ENST00000327428.5_3'UTR NM_001035505.1 NP_001030582.1 Q53S33 BOLA3_HUMAN bolA family member 3 0 extracellular region large_intestine(1)|lung(1) 2 TGATGTCAGTGAAGTTCATCC 0.373000 5 52 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180897640 180897640 + Missense_Mutation SNP G G A rs111709771 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:180897640G>A ENST00000367588.4 + 4 1191 c.1136G>A c.(1135-1137)cGc>cAc p.R379H KIAA1614_ENST00000367587.1_5'UTR NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 379 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CAGCGTGCCCGCATGAAGGCC 0.687000 4 119 0 0 1 0 0 NOP56 10528 broad.mit.edu 37 20 2638719 2638719 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:2638719C>T ENST00000329276.5 + 12 2080 c.1564C>T c.(1564-1566)Ctt>Ttt p.L522F NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 522 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GAGTAGCGATCTTGAAGAGAC 0.483000 11 23 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128040226 128040226 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:128040226G>A ENST00000338791.6 - 9 1147 c.797C>T c.(796-798)cCa>cTa p.P266L IMPDH1_ENST00000378717.4_Missense_Mutation_p.P197L|IMPDH1_ENST00000354269.5_Missense_Mutation_p.P256L|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P230L|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P156L|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P233L|IMPDH1_ENST00000480861.1_Missense_Mutation_p.P176L|IMPDH1_ENST00000470772.1_Missense_Mutation_p.P180L|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P156L NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 181 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) TTCAATCCTTGGCGTCATCAC 0.562000 34 92 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6191051 6191051 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:6191051G>A ENST00000530810.1 - 1 587 c.506C>T c.(505-507)cCc>cTc p.P169L RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGGCAGAAGGGCAGCCGCTT 0.502000 4 24 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212530049 212530049 + Splice_Site SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:212530049C>A ENST00000342788.4 - 15 2180 c.1871_splice c.e15+1 p.G624_splice ERBB4_ENST00000436443.1_Splice_Site_p.G624_splice|ERBB4_ENST00000402597.1_Splice_Site_p.G624_splice NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 624 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AATGCTTACCCTTGGGTGCAG 0.463000 TSP Lung(8;0.080) 8 32 0.000274275 0.000276634 1 1 0 HERC1 8925 broad.mit.edu 37 15 63991031 63991031 + Missense_Mutation SNP C C G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:63991031C>G ENST00000443617.2 - 26 4888 c.4801G>C c.(4801-4803)Gga>Cga p.G1601R RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1601 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCCACATCTCCACTCACAAAG 0.448000 4 22 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84270452 84270452 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:84270452G>A ENST00000568181.1 - 2 760 c.640C>T c.(640-642)Ccg>Tcg p.P214S KCNG4_ENST00000308251.4_Missense_Mutation_p.P214S Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 214 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CCGGACTGCGGGTTTTCCACC 0.677000 25 52 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52416749 52416749 + Missense_Mutation SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:52416749T>G ENST00000261837.7 - 12 1162 c.1097A>C c.(1096-1098)cAt>cCt p.H366P GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Missense_Mutation_p.H254P|GNB5_ENST00000358784.7_Missense_Mutation_p.H324P NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 366 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) GCGGTTTTCATGTCCAAACAG 0.502000 20 35 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46305285 46305285 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:46305285G>A ENST00000359930.4 - 10 2184 c.1333C>T c.(1333-1335)Ctg>Ttg p.L445L SULF2_ENST00000484875.1_Silent_p.L445L|SULF2_ENST00000467815.1_Silent_p.L445L|SULF2_ENST00000361612.4_Silent_p.L445L NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 445 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 CGCTGACACAGGTCCTTCACA 0.602000 3 5 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32476005 32476005 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:32476005G>A ENST00000404025.2 - 5 1416 c.928C>T c.(928-930)Cga>Tga p.R310* NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R310*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R310*|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 310 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AGCACTTCTCGGATGAGAGCC 0.532000 17 41 0 0 1 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45693277 45693277 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:45693277G>A ENST00000310806.4 - 11 2971 c.2513C>T c.(2512-2514)tCc>tTc p.S838F NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 838 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TTCTTTGACGGAAGGTCTAGC 0.358000 15 32 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150844576 150844576 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:150844576G>A ENST00000370357.4 + 16 2528 c.2283G>A c.(2281-2283)ttG>ttA p.L761L NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 761 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGACCAGATTGATGCCTGCAG 0.552000 19 21 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53432307 53432307 + Missense_Mutation SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:53432307A>G ENST00000549216.1 - 2 414 c.344T>C c.(343-345)aTc>aCc p.I115T ZNF816_ENST00000434371.2_Missense_Mutation_p.I184T|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF321P_ENST00000391777.3_Missense_Mutation_p.I184T NM_001202473.1 NP_001189402.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 GGCATTGATGATAGACTTCTC 0.373000 18 72 0 0 1 0 0 CORO1A 11151 broad.mit.edu 37 16 30198152 30198152 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:30198152G>A ENST00000219150.5 + 4 642 c.337G>A c.(337-339)Gat>Aat p.D113N CORO1A_ENST00000565497.1_Missense_Mutation_p.D113N|CORO1A_ENST00000570045.1_Missense_Mutation_p.D113N NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 113 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 GGAGATCCCAGATGGGGGCCT 0.652000 6 45 0 0 1 0 0 GPM6A 2823 broad.mit.edu 37 4 176622896 176622896 + Missense_Mutation SNP T T A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:176622896T>A ENST00000280187.7 - 3 105 c.60A>T c.(58-60)aaA>aaT p.K20N GPM6A_ENST00000506894.1_Missense_Mutation_p.K9N|GPM6A_ENST00000515090.1_Missense_Mutation_p.K13N|GPM6A_ENST00000393658.2_Missense_Mutation_p.K20N NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 20 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CCCCCAGGCATTTGATACAGC 0.433000 10 51 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891161 44891161 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:44891161G>A ENST00000330997.4 - 4 1310 c.1246C>T c.(1246-1248)Caa>Taa p.Q416* ZNF285_ENST00000591679.1_Nonsense_Mutation_p.Q423*|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.Q416* NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CAGTGGACTTGAAGAACGGAG 0.493000 17 36 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862783 84862783 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:84862783G>A ENST00000403245.3 - 23 3224 c.3110C>T c.(3109-3111)gCc>gTc p.A1037V KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.A961V NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 1037 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GATCTGATGGGCTTCCTTGAT 0.403000 7 26 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186043930 186043930 + Missense_Mutation SNP A A C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:186043930A>C ENST00000271588.4 + 53 8426 c.8197A>C c.(8197-8199)Aag>Cag p.K2733Q HMCN1_ENST00000367492.2_Missense_Mutation_p.K2733Q NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2733 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTTCAAATAAAGGAGGCTCA 0.363000 20 33 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1096334 1096334 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:1096334C>T ENST00000441003.2 + 34 6386 c.6359C>T c.(6358-6360)aCg>aTg p.T2120M MUC2_ENST00000361558.6_Missense_Mutation_p.T258M|MUC2_ENST00000333592.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4482 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) GGCTACTGCACGGGCTGGGGC 0.662000 6 25 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575445 136575445 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:136575445G>A ENST00000264162.2 - 6 1183 c.1173C>T c.(1171-1173)tcC>tcT p.S391S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 391 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) AGGCTCCTGTGGAGGCACCCC 0.597000 27 60 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7228266 7228266 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:7228266C>T ENST00000399464.2 - 9 1680 c.1665G>A c.(1663-1665)ctG>ctA p.L555L NEURL4_ENST00000570460.1_Silent_p.L533L|NEURL4_ENST00000315614.7_Silent_p.L555L NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCTGCTGCTCAGCACCACGC 0.572000 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 106 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750624 140750624 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:140750624C>T ENST00000576222.1 + 1 794 c.663C>T c.(661-663)tcC>tcT p.S221S PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_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) GCGAGCCCTCCAGAAGCTGTA 0.542000 18 54 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349916 233349916 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:233349916C>T ENST00000304546.1 - 3 1058 c.848G>A c.(847-849)aGt>aAt p.S283N ECEL1_ENST00000409941.1_Missense_Mutation_p.S283N NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 283 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CACCTTCTCACTGTCCTCATC 0.667000 8 23 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19345796 19345796 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:19345796G>A ENST00000261537.6 + 2 557 c.293G>A c.(292-294)tGg>tAg p.W98* MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 98 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) GGCATTCGATGGAAGTGTGCA 0.408000 20 52 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133485237 133485237 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:133485237C>T ENST00000402696.3 + 12 1931 c.1446C>T c.(1444-1446)ccC>ccT p.P482P TF_ENST00000264998.3_Silent_p.P355P NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 482 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GGAACATCCCCATGGGCCTGC 0.537000 35 95 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125061968 125061968 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:125061968G>A ENST00000522917.1 + 22 3051 c.2845G>A c.(2845-2847)Gat>Aat p.D949N FER1L6_ENST00000399018.1_Missense_Mutation_p.D949N|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 949 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTCTGGAGGGGATCTCCTTGC 0.532000 14 55 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23830533 23830533 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:23830533G>A ENST00000354639.3 + 22 3123 c.2659G>A c.(2659-2661)Gac>Aac p.D887N STK31_ENST00000355870.3_Missense_Mutation_p.D910N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.D887N|STK31_ENST00000433467.2_Missense_Mutation_p.D910N NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 910 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 TCCAGGTTCAGACTTATATGC 0.353000 9 26 0 0 1 0 0 XAF1 54739 broad.mit.edu 37 17 6663903 6663903 + Missense_Mutation SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:6663903A>G ENST00000361842.3 + 4 643 c.404A>G c.(403-405)cAg>cGg p.Q135R XAF1_ENST00000438512.1_Missense_Mutation_p.Q135R|XAF1_ENST00000346752.4_Missense_Mutation_p.Q116R|XAF1_ENST00000441631.1_Missense_Mutation_p.Q135R NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 135 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 CGCAGTGAACAGGCCCAGCTC 0.587000 8 26 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67249754 67249754 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:67249754G>A ENST00000392676.3 - 34 4439 c.4375C>T c.(4375-4377)Cca>Tca p.P1459S ABCA5_ENST00000392677.2_Missense_Mutation_p.P1460S|ABCA5_ENST00000588877.1_Missense_Mutation_p.P1459S Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1459 ABC transporter 2. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CCTGTAGATGGTTCATCTAGC 0.378000 16 46 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70557416 70557416 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:70557416G>A ENST00000323786.5 - 1 52 c.31C>T c.(31-33)Cct>Tct p.P11S COG4_ENST00000393612.4_Missense_Mutation_p.P7S|COG4_ENST00000564653.1_Missense_Mutation_p.P11S NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 7 Interacts with SCFD1. 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) AGCTTCGGAGGCGAATCAAGG 0.647000 10 34 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145115842 145115842 + RNA SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:145115842G>T ENST00000453618.1 + 0 928 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGCAGTAGCTGTATTTTTCAT 0.413000 12 183 4.93089e-13 5.07937e-13 1 1 0 COG4 25839 broad.mit.edu 37 16 70557415 70557415 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:70557415G>A ENST00000323786.5 - 1 53 c.32C>T c.(31-33)cCt>cTt p.P11L COG4_ENST00000393612.4_Missense_Mutation_p.P7L|COG4_ENST00000564653.1_Missense_Mutation_p.P11L NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 7 Interacts with SCFD1. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding p.P11H(1) 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) CAGCTTCGGAGGCGAATCAAG 0.652000 9 34 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3653274 3653274 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:3653274C>T ENST00000356518.2 - 13 1553 c.e13-1 ADAM33_ENST00000350009.2_Splice_Site|ADAM33_ENST00000466620.1_Splice_Site|ADAM33_ENST00000379861.4_Splice_Site NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CGCGGCACTCCTGGGACCAGA 0.701000 8 41 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176309036 176309036 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:176309036C>T ENST00000292432.5 - 16 2237 c.2146G>A c.(2146-2148)Ggc>Agc p.G716S NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 716 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAAAGGCGCCCCACTCCATG 0.632000 28 75 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17850625 17850625 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:17850625C>T ENST00000378814.5 - 8 645 c.646G>A c.(646-648)Gaa>Aaa p.E216K KIF13A_ENST00000378816.5_Missense_Mutation_p.E216K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E216K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E216K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E216K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 216 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTGCTTTCTTCGTTCATGTTG 0.448000 7 22 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1807634 1807634 + Silent SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:1807634G>T ENST00000340107.4 + 13 2065 c.1809G>T c.(1807-1809)gtG>gtT p.V603V FGFR3_ENST00000481110.2_Silent_p.V602V|FGFR3_ENST00000260795.2_Silent_p.V601V|FGFR3_ENST00000440486.2_Silent_p.V601V|FGFR3_ENST00000412135.2_Silent_p.V489V|FGFR3_ENST00000352904.1_Silent_p.V489V NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 601 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCTACCAGGTGGCCCGGGGCA 0.701000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 22 68 2.89027e-11 2.95874e-11 1 1 0 MAML3 55534 broad.mit.edu 37 4 140810355 140810355 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:140810355G>A ENST00000398940.1 - 5 812 c.813C>T c.(811-813)ttC>ttT p.F271F MAML3_ENST00000327122.5_Intron|MAML3_ENST00000509479.2_Intron Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 0 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) AATGGAAAAAGAACACTCCAA 0.413000 8 40 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703870 4703870 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:4703870G>A ENST00000396950.3 - 2 311 c.72C>T c.(70-72)ttC>ttT p.F24F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AGCCAACCCAGAAATGGGCTT 0.512000 5 24 0 0 1 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340365 29340365 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:29340365G>A ENST00000269205.5 - 1 478 c.290C>T c.(289-291)cCa>cTa p.P97L SLC25A52_ENST00000579441.2_Missense_Mutation_p.P87L NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 87 transport integral to membrane|mitochondrial inner membrane CTGCATCAATGGGGGAAGGAT 0.478000 22 56 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13383561 13383561 + Silent SNP G G A rs138467259 byFrequency TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:13383561G>A ENST00000254508.5 - 22 3109 c.3027C>T c.(3025-3027)ttC>ttT p.F1009F NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1009 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) ATTTGGCAAGGAAGGGCTTCT 0.557000 7 42 0 0 1 0 0 GRSF1 2926 broad.mit.edu 37 4 71701973 71701973 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:71701973G>A ENST00000254799.6 - 2 533 c.416C>T c.(415-417)cCg>cTg p.P139L GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.P21L NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 139 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) TAACTTGGACGGGGCCAATTC 0.438000 14 40 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30974848 30974848 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:30974848C>T ENST00000262519.8 + 5 1298 c.612C>T c.(610-612)ttC>ttT p.F204F NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GTGAGAAGTTCCAAGGCTCGG 0.572000 34 67 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48032152 48032152 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:48032152C>T ENST00000295461.5 + 3 395 c.329C>T c.(328-330)tCt>tTt p.S110F NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 110 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 GGTGGACATTCTTACCTGAAG 0.338000 3 14 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202457679 202457679 + Silent SNP A A C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:202457679A>C ENST00000406302.3 + 14 2022 c.1869A>C c.(1867-1869)gtA>gtC p.V623V PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000336894.4_Silent_p.V623V|PPP1R12B_ENST00000391959.3_5'UTR NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 623 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TGACTCCTGTACGGGATGAGG 0.423000 3 7 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122853753 122853753 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:122853753G>A ENST00000264811.5 - 1 859 c.441C>T c.(439-441)ttC>ttT p.F147F TRPC3_ENST00000379645.3_Silent_p.F220F|TRPC3_ENST00000513531.1_Silent_p.F147F NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 135 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CGTAAGCGTAGAAGTCGTCGT 0.622000 13 31 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 35 0 0 1 0 0 BMPR1B 658 broad.mit.edu 37 4 96075806 96075806 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:96075806C>T ENST00000515059.1 + 13 1774 c.1491C>T c.(1489-1491)tcC>tcT p.S497S BMPR1B_ENST00000440890.2_Silent_p.S527S|BMPR1B_ENST00000264568.4_Silent_p.S497S|BMPR1B_ENST00000394931.1_Silent_p.S497S NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 497 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TGTCAGAGTCCCAGGACATTA 0.463000 8 19 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188321 152188321 + Silent SNP A A G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:152188321A>G ENST00000368801.2 - 3 5859 c.5784T>C c.(5782-5784)tcT>tcC p.S1928S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1928 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) GACGGGAGCCAGACCCATGCT 0.577000 24 1176 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18499676 18499676 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:18499676C>T ENST00000433979.1 + 11 1647 c.1531C>T c.(1531-1533)Cct>Tct p.P511S PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P511S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P511S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P511S NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 511 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) TGTAAATGTACCTAGATGCAC 0.443000 7 50 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655766 48655766 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:48655766G>A ENST00000352832.5 + 9 2514 c.2142G>A c.(2140-2142)cgG>cgA p.R714R CACNA1G_ENST00000510366.1_Silent_p.R714R|CACNA1G_ENST00000507336.1_Silent_p.R714R|CACNA1G_ENST00000510115.1_Silent_p.R714R|CACNA1G_ENST00000515165.1_Silent_p.R714R|CACNA1G_ENST00000505165.1_Silent_p.R714R|CACNA1G_ENST00000507896.1_Silent_p.R714R|CACNA1G_ENST00000514717.1_Silent_p.R714R|CACNA1G_ENST00000507510.2_Silent_p.R714R|CACNA1G_ENST00000513964.1_Silent_p.R714R|CACNA1G_ENST00000507609.1_Silent_p.R714R|CACNA1G_ENST00000514079.1_Silent_p.R714R|CACNA1G_ENST00000503485.1_Silent_p.R714R|CACNA1G_ENST00000513689.2_Silent_p.R714R|CACNA1G_ENST00000512389.1_Silent_p.R714R|CACNA1G_ENST00000359106.5_Silent_p.R714R|CACNA1G_ENST00000515411.1_Silent_p.R714R|CACNA1G_ENST00000358244.5_Silent_p.R714R|CACNA1G_ENST00000502264.1_Silent_p.R714R|CACNA1G_ENST00000360761.4_Silent_p.R714R|CACNA1G_ENST00000429973.2_Silent_p.R714R|CACNA1G_ENST00000354983.4_Silent_p.R714R|CACNA1G_ENST00000514181.1_Silent_p.R714R|CACNA1G_ENST00000442258.2_Silent_p.R714R|CACNA1G_ENST00000416767.4_Silent_p.R714R|CACNA1G_ENST00000515765.1_Silent_p.R714R NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 714 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGCGGCAACGGAGCCTGGGCC 0.607000 27 61 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93760709 93760709 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:93760709G>A ENST00000334746.5 - 3 964 c.657C>T c.(655-657)atC>atT p.I219I BTBD7_ENST00000298896.3_Silent_p.I219I|BTBD7_ENST00000555525.1_Silent_p.I219I|BTBD7_ENST00000554565.1_Intron NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 219 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTGAACAAGGATATCGACAT 0.378000 4 35 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6865107 6865107 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:6865107G>A ENST00000307659.5 + 7 3453 c.2998G>A c.(2998-3000)Gat>Aat p.D1000N KIAA0232_ENST00000425103.1_Missense_Mutation_p.D1000N NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1000 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 TGAACAGAATGATCAGCCGAA 0.438000 14 29 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64023076 64023076 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:64023076C>T ENST00000540288.1 + 7 688 c.585C>T c.(583-585)ctC>ctT p.L195L PLCB3_ENST00000325234.5_Silent_p.L128L|PLCB3_ENST00000279230.6_Silent_p.L195L NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 195 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CCTGTGGCCTCAAATTCAACC 0.647000 5 38 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18872381 18872381 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:18872381G>A ENST00000266505.7 - 5 816 c.553C>T c.(553-555)Ctt>Ttt p.L185F PLCZ1_ENST00000541695.1_Missense_Mutation_p.L48F|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L183F Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 185 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TATCCCCAAAGGTCACTTGGT 0.308000 7 22 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 59 0 0 1 0 0 SH2D4B 387694 broad.mit.edu 37 10 82329938 82329938 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:82329938C>T ENST00000339284.2 + 2 643 c.213C>T c.(211-213)ctC>ctT p.L71L SH2D4B_ENST00000470604.2_Silent_p.L70L|SH2D4B_ENST00000313455.4_Silent_p.L22L NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 70 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) TCCAATGGCTCCTAGGGGCAG 0.512000 19 39 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31294201 31294201 + Missense_Mutation SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:31294201G>T ENST00000542188.1 - 27 5066 c.4753C>A c.(4753-4755)Cca>Aca p.P1585T TRPM1_ENST00000256552.6_Missense_Mutation_p.P1568T|TRPM1_ENST00000397795.2_Missense_Mutation_p.P1546T NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1546 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) CTGAGAGATGGGAATCCCAAA 0.433000 36 90 8.73648e-17 9.05638e-17 1 1 0 PLCB4 5332 broad.mit.edu 37 20 9417752 9417752 + Missense_Mutation SNP G G A rs112585987 TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:9417752G>A ENST00000378501.2 + 26 2696 c.2681G>A c.(2680-2682)aGa>aAa p.R894K PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.R894K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R894K|PLCB4_ENST00000414679.2_Missense_Mutation_p.R906K|PLCB4_ENST00000378493.1_Missense_Mutation_p.R894K|PLCB4_ENST00000378473.3_Missense_Mutation_p.R906K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 894 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCTGAGCTCAGACCAACCACC 0.532000 3 27 0 0 1 0 0 UNC93B1 81622 broad.mit.edu 37 11 67767142 67767142 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:67767142C>T ENST00000227471.2 - 4 480 c.401G>A c.(400-402)gGa>gAa p.G134E UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 134 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome CCACTTCGTTCCAAAAAACCT 0.602000 4 10 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98991178 98991178 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:98991178C>T ENST00000254898.5 + 6 1254 c.1023C>T c.(1021-1023)tcC>tcT p.S341S MATN2_ENST00000524308.1_Silent_p.S341S|MATN2_ENST00000521689.1_Silent_p.S341S|MATN2_ENST00000520016.1_Silent_p.S341S|MATN2_ENST00000522025.2_Silent_p.S57S NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 341 EGF-like 3. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CTGATGGCTCCTACCTTTGCC 0.418000 9 29 0 0 1 0 0 SNAI2 6591 broad.mit.edu 37 8 49833813 49833813 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:49833813G>A ENST00000396822.1 - 2 369 c.12C>T c.(10-12)tcC>tcT p.S4S SNAI2_ENST00000020945.1_Silent_p.S4S O43623 SNAI2_HUMAN snail family zinc finger 2 4 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TGACCAGGAAGGAGCGCGGCA 0.577000 25 91 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 19999087 19999087 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:19999087C>T ENST00000400230.2 - 19 1510 c.1466_splice c.e19+1 p.R489_splice TPTE2_ENST00000382977.4_Splice_Site_p.R489_splice|TPTE2_ENST00000390680.2_Splice_Site_p.R412_splice|TPTE2_ENST00000382978.1_Splice_Site_p.R449_splice|TPTE2_ENST00000255310.6_Splice_Site_p.R412_splice|TPTE2_ENST00000382975.4_Splice_Site_p.R449_splice|TPTE2_ENST00000400103.2_Splice_Site_p.R378_splice|TPTE2_ENST00000457266.2_Splice_Site_p.R378_splice Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 489 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATATTCATACCTGTTATTTTG 0.279000 5 12 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96512941 96512941 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:96512941C>T ENST00000283109.3 - 4 445 c.377G>A c.(376-378)aGa>aAa p.R126K CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.R126K NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 126 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) TCTTCCTAGTCTGTGAAGCTT 0.338000 14 30 0 0 1 0 0 FANCE 2178 broad.mit.edu 37 6 35423924 35423924 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:35423924C>T ENST00000229769.2 + 2 834 c.649C>T c.(649-651)Ccc>Tcc p.P217S NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 217 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 GAAGAGGGTCCCCAAAAGATT 0.542000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 42 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48808503 48808503 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr15:48808503G>A ENST00000316623.5 - 11 1659 c.1204C>T c.(1204-1206)Cct>Tct p.P402S NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 402 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) GGTGGGGGAGGATATTCTGGT 0.502000 14 77 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52942858 52942858 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:52942858C>T ENST00000354452.3 - 10 1392 c.781G>A c.(781-783)Gaa>Aaa p.E261K TCF4_ENST00000543082.1_Missense_Mutation_p.E219K|TCF4_ENST00000567880.1_Missense_Mutation_p.E201K|TCF4_ENST00000568673.1_Missense_Mutation_p.E237K|TCF4_ENST00000537578.1_Missense_Mutation_p.E237K|TCF4_ENST00000537856.3_Missense_Mutation_p.E131K|TCF4_ENST00000398339.1_Missense_Mutation_p.E363K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000565018.2_Missense_Mutation_p.E261K|TCF4_ENST00000570177.2_Missense_Mutation_p.E131K|TCF4_ENST00000457482.3_Missense_Mutation_p.E101K|TCF4_ENST00000561831.3_Missense_Mutation_p.E101K|TCF4_ENST00000564228.1_Missense_Mutation_p.E190K|TCF4_ENST00000564403.2_Missense_Mutation_p.E267K|TCF4_ENST00000570287.2_Missense_Mutation_p.E101K|TCF4_ENST00000544241.2_Missense_Mutation_p.E190K|TCF4_ENST00000566286.1_Missense_Mutation_p.E259K|TCF4_ENST00000561992.1_Missense_Mutation_p.E131K|TCF4_ENST00000564999.1_Missense_Mutation_p.E261K|TCF4_ENST00000356073.4_Missense_Mutation_p.E261K|TCF4_ENST00000568740.1_Missense_Mutation_p.E236K|TCF4_ENST00000566279.1_Missense_Mutation_p.E201K|TCF4_ENST00000540999.1_Missense_Mutation_p.E237K NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 261 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) ACCAAACGTTCATGTGGATGC 0.488000 29 96 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065708 23065708 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:23065708C>T ENST00000246006.4 - 1 1269 c.1122G>A c.(1120-1122)gaG>gaA p.E374E NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 374 EGF-like 3; calcium-binding (Potential). 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) GACCGCCCGGCTCATAGCCAA 0.632000 7 29 0 0 1 0 0 GALNT9 50614 broad.mit.edu 37 12 132688134 132688134 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:132688134G>A ENST00000328957.8 - 7 1178 c.1179C>T c.(1177-1179)gcC>gcT p.A393A GALNT9_ENST00000535228.1_Silent_p.A144A|GALNT9_ENST00000541995.1_Silent_p.A27A|GALNT9_ENST00000397325.2_Silent_p.A27A NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) 393 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) CGTTGCGCTTGGCATAGTAGT 0.627000 24 44 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42606724 42606724 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:42606724G>A ENST00000359486.3 - 1 4724 c.4588C>T c.(4588-4590)Cca>Tca p.P1530S TCF20_ENST00000335626.4_Missense_Mutation_p.P1530S NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TATCCCTTTGGAGGGAAACCC 0.527000 23 40 0 0 1 0 0 CLLU1OS 574016 broad.mit.edu 37 12 92814806 92814806 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:92814806C>T ENST00000378487.2 - 3 287 c.286G>A c.(286-288)Gaa>Aaa p.E96K CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E96K NM_001025232.1 NP_001020403.1 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 opposite strand 96 large_intestine(1)|lung(7) 8 TCCTGTGCTTCCTTCTTCCCA 0.433000 75 193 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120181835 120181835 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:120181835G>A ENST00000328078.1 + 1 374 c.297G>A c.(295-297)cgG>cgA p.R99R NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 99 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCAGAAGCGGAACCGGGTGC 0.622000 30 27 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854774 88854774 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:88854774C>T ENST00000537554.1 - 2 3782 c.220G>A c.(220-222)Gac>Aac p.D74N CNR1_ENST00000549716.1_Intron|CNR1_ENST00000468898.1_Missense_Mutation_p.D41N|CNR1_ENST00000369499.2_Missense_Mutation_p.D74N|CNR1_ENST00000428600.2_Missense_Mutation_p.D74N|CNR1_ENST00000535130.1_Missense_Mutation_p.D74N|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000369501.2_Missense_Mutation_p.D74N|CNR1_ENST00000549890.1_Missense_Mutation_p.D74N NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 74 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TTCACCTGGTCTGCTGGGACT 0.473000 11 25 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19567048 19567048 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:19567048G>A ENST00000438132.3 + 1 312 c.264G>A c.(262-264)ggG>ggA p.G88G C16orf62_ENST00000251143.5_5'UTR|C16orf62_ENST00000417362.2_5'UTR|C16orf62_ENST00000542263.1_Silent_p.G88G|C16orf62_ENST00000538853.1_Silent_p.G88G NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 0 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 ATGTGACTGGGAAGATGGCCG 0.627000 9 34 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4207943 4207943 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:4207943C>T ENST00000600132.1 + 10 1086 c.810C>T c.(808-810)gcC>gcT p.A270A ANKRD24_ENST00000262970.5_Silent_p.A360A|ANKRD24_ENST00000318934.4_Silent_p.A270A NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 270 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AAGAGGCGGCCCAGCGCCCCT 0.627000 OREG0025162 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 5 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61623078 61623078 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:61623078G>A ENST00000583023.1 + 14 2811 c.2800G>A c.(2800-2802)Gaa>Aaa p.E934K KCNH6_ENST00000314672.5_Missense_Mutation_p.E898K|KCNH6_ENST00000581784.1_Missense_Mutation_p.E845K|KCNH6_ENST00000456941.2_Missense_Mutation_p.E845K NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 934 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ACCATCCTCAGAACAGGAACA 0.577000 15 73 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130717162 130717162 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:130717162C>T ENST00000510168.1 + 26 2966 c.2416C>T c.(2416-2418)Cga>Tga p.R806* ATP2C1_ENST00000328560.8_Nonsense_Mutation_p.R806*|ATP2C1_ENST00000533801.2_Nonsense_Mutation_p.R801*|ATP2C1_ENST00000359644.3_Nonsense_Mutation_p.R806*|ATP2C1_ENST00000393221.4_Nonsense_Mutation_p.R840*|ATP2C1_ENST00000513801.1_Nonsense_Mutation_p.R790*|ATP2C1_ENST00000422190.2_Nonsense_Mutation_p.R806*|ATP2C1_ENST00000504381.1_Nonsense_Mutation_p.R751*|ATP2C1_ENST00000428331.2_Nonsense_Mutation_p.R806*|ATP2C1_ENST00000504948.1_Nonsense_Mutation_p.R790*|ATP2C1_ENST00000505330.1_Nonsense_Mutation_p.R790*|ATP2C1_ENST00000507488.2_Nonsense_Mutation_p.R790*|ATP2C1_ENST00000508532.1_Nonsense_Mutation_p.R806* P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 806 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) GATTACACCTCGAGACACAAC 0.358000 Hailey-Hailey disease 12 44 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66192177 66192177 + Missense_Mutation SNP C C G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:66192177C>G ENST00000311034.2 + 7 1992 c.1816C>G c.(1816-1818)Ccc>Gcc p.P606A NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 606 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCCCCTGGTGCCCGAAGGCCT 0.592000 9 110 0 0 1 0 0 CHST10 9486 broad.mit.edu 37 2 101009849 101009849 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:101009849G>A ENST00000264249.3 - 7 1314 c.929C>T c.(928-930)cCg>cTg p.P310L CHST10_ENST00000409701.1_Missense_Mutation_p.P310L|CHST10_ENST00000542617.1_Missense_Mutation_p.P358L NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 310 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 GGTAATGCCCGGAGGGATAGT 0.527000 11 69 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34862940 34862940 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:34862940G>A ENST00000431794.3 - 17 2028 c.1506C>T c.(1504-1506)ctC>ctT p.L502L MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 502 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGCGTGTCTGGAGCTGGGCTG 0.622000 12 51 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185878583 185878583 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:185878583G>A ENST00000271588.4 + 5 965 c.736G>A c.(736-738)Gag>Aag p.E246K HMCN1_ENST00000367492.2_Missense_Mutation_p.E246K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 246 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAGCCTGAAAGAGGTCACTGT 0.383000 12 40 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19547658 19547658 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:19547658C>T ENST00000396212.2 + 5 1103 c.667C>T c.(667-669)Ccc>Tcc p.P223S CCP110_ENST00000381396.5_Missense_Mutation_p.P223S|CCP110_ENST00000396208.2_Missense_Mutation_p.P223S NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 223 CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CATCCCAGATCCCTATGTAAT 0.398000 22 83 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160260356 160260356 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:160260356G>A ENST00000241704.7 - 32 3770 c.3541C>T c.(3541-3543)Cca>Tca p.P1181S COPA_ENST00000368069.3_Missense_Mutation_p.P1190S NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1181 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTTCTACTGGCTTTCCACGG 0.468000 16 52 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33248017 33248017 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:33248017G>A ENST00000373477.4 - 9 1938 c.1030C>T c.(1030-1032)Ccc>Tcc p.P344S NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 344 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TGCTTTGAGGGATCTGGGTAG 0.502000 5 64 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515201 56515201 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:56515201C>T ENST00000390649.3 + 2 182 c.182C>T c.(181-183)tCc>tTc p.S61F NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 61 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCACCTTTTCCAGCTACGGG 0.433000 14 54 0 0 1 0 0 NEFL 4747 broad.mit.edu 37 8 24810395 24810395 + RNA SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:24810395G>A ENST00000221169.5 - 0 2155 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) cagcttctttggtttcctctc 0.403000 14 32 0 0 1 0 0 AGPAT1 10554 broad.mit.edu 37 6 32139098 32139098 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:32139098C>T ENST00000395499.1 - 2 755 c.176G>A c.(175-177)cGa>cAa p.R59Q AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R59Q|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R59Q|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R59Q|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R59Q|AGPAT1_ENST00000412465.2_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R59Q Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 59 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 GTTGCGTCCTCGCACGGCACA 0.562000 19 84 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47374755 47374755 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:47374755C>T ENST00000232766.5 + 5 729 c.709C>T c.(709-711)Ctt>Ttt p.L237F KLHL18_ENST00000455924.2_Missense_Mutation_p.L125F NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 237 BACK. endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GCCCCAGTTCCTTTCAGACAG 0.597000 3 27 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64327545 64327545 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:64327545G>A ENST00000358912.4 - 4 732 c.290C>T c.(289-291)aCc>aTc p.T97I PELI1_ENST00000466177.2_5'UTR NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 97 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 AAACATATCGGTGTTGCTGTC 0.348000 22 60 0 0 1 0 0 KRT19P2 160313 broad.mit.edu 37 12 95228785 95228785 + RNA SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:95228785G>A ENST00000405395.2 + 0 556 NR_036685.1 CAGCAGTATTGAAGCCCAGCT 0.582000 6 16 0 0 1 0 0 MIXL1 83881 broad.mit.edu 37 1 226411643 226411643 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:226411643C>T ENST00000366810.5 + 1 325 c.261C>T c.(259-261)cgC>cgT p.R87R MIXL1_ENST00000542034.1_Silent_p.R87R Q9H2W2 MIXL1_HUMAN Mix paired-like homeobox 87 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.109) CGTCGCAGCGCCGCAAGCGCA 0.776000 3 22 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69255270 69255270 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:69255270C>T ENST00000374552.4 + 8 1229 c.987C>T c.(985-987)ttC>ttT p.F329F EDA_ENST00000524573.1_Silent_p.F324F|EDA_ENST00000374553.2_Silent_p.F327F NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 329 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 AGAAGCCCTTCCTGCAGTGCA 0.547000 4 10 0 0 1 0 0 PSMF1 9491 broad.mit.edu 37 20 1145691 1145691 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:1145691C>T ENST00000335877.6 + 7 959 c.783C>T c.(781-783)ctC>ctT p.L261L PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Silent_p.L261L NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 261 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 CAGACCATCTCCCCCCGCCGG 0.577000 9 95 0 0 1 0 0 PTOV1 53635 broad.mit.edu 37 19 50360315 50360315 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:50360315C>T ENST00000391842.1 + 6 812 c.642C>T c.(640-642)ttC>ttT p.F214F AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.F182F|PTOV1_ENST00000601675.1_Silent_p.F214F|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.F182F|PTOV1_ENST00000221557.9_Silent_p.F182F|PTOV1_ENST00000599732.1_Silent_p.F214F NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 214 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane p.F214L(1) endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) AGAAGATCTTCATGGGCCTCA 0.647000 57 199 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74771116 74771116 + Silent SNP T T G TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:74771116T>G ENST00000588460.1 + 11 2954 c.912T>G c.(910-912)cgT>cgG p.R304R MFSD11_ENST00000336509.4_Silent_p.R304R|MFSD11_ENST00000586622.1_Silent_p.R304R|MFSD11_ENST00000355954.3_Silent_p.R252R|MFSD11_ENST00000593181.1_Silent_p.R252R|MFSD11_ENST00000590514.1_Silent_p.R304R|MFSD11_ENST00000590070.1_3'UTR NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 304 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 AGAACAATCGTTTTGGTAGAA 0.473000 60 129 0 0 1 0 0 G3BP1 10146 broad.mit.edu 37 5 151166206 151166206 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:151166206C>T ENST00000394123.3 + 2 170 c.25C>T c.(25-27)Ctg>Ttg p.L9L G3BP1_ENST00000356245.3_Silent_p.L9L|G3BP1_ENST00000543466.1_5'UTR Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 9 Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GCCTAGTCCCCTGCTGGTCGG 0.473000 24 54 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61831044 61831044 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:61831044G>A ENST00000280772.1 - 37 9786 c.9595C>T c.(9595-9597)Cca>Tca p.P3199S ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3199 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 TCGGGAATTGGGCTGGGTTTG 0.483000 15 38 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54649535 54649535 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:54649535C>T ENST00000406403.1 + 7 2288 c.685C>T c.(685-687)Ctg>Ttg p.L229L CNOT3_ENST00000358389.3_Silent_p.L48L|CNOT3_ENST00000221232.5_Silent_p.L229L O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 229 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTACGATGACCTGGACCTCGA 0.567000 16 31 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94316852 94316852 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:94316852C>T ENST00000282020.4 + 9 1598 c.1340C>T c.(1339-1341)aCt>aTt p.T447I GRID2_ENST00000510992.1_Missense_Mutation_p.T352I NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 447 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) CGTGTAGTAACTGTTCTGGTA 0.383000 8 65 0 0 1 0 0 CTRC 11330 broad.mit.edu 37 1 15767060 15767060 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:15767060C>T ENST00000375949.4 + 3 230 c.204C>T c.(202-204)ttC>ttT p.F68F CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_3'UTR NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 68 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) 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) CTAGCAACTTCGTCCTCACTG 0.592000 6 20 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 93511326 93511326 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:93511326C>T ENST00000282020.4 + 2 391 c.133C>T c.(133-135)Cgc>Tgc p.R45C GRID2_ENST00000510992.1_Missense_Mutation_p.R45C|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 45 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 p.R45C(1) 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) TGAGGTATTTCGCACTGCGGT 0.383000 9 56 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183522121 183522121 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:183522121C>T ENST00000511685.1 + 4 679 c.556C>T c.(556-558)Ccg>Tcg p.P186S TENM3_ENST00000406950.2_Missense_Mutation_p.P186S teneurin transmembrane protein 3 GCAGCCCTTGCCGCCTTCCCA 0.443000 4 135 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165551675 165551675 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:165551675C>T ENST00000375458.2 - 11 2448 c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K COBLL1_ENST00000409184.3_Missense_Mutation_p.E781K|COBLL1_ENST00000392717.2_Missense_Mutation_p.E819K|COBLL1_ENST00000342193.4_Missense_Mutation_p.E781K|COBLL1_ENST00000194871.6_Missense_Mutation_p.E848K NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 819 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TTCGATATTTCCAAGGATTTG 0.378000 24 57 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485123 97485123 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:97485123C>T ENST00000376705.2 + 2 1111 c.1087C>T c.(1087-1089)Ctc>Ttc p.L363F NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 363 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) GACACAGTTTCTCTTTGAGAG 0.498000 22 49 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90012538 90012538 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:90012538C>T ENST00000405460.2 + 43 9535 c.9439C>T c.(9439-9441)Cga>Tga p.R3147* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3147 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) AGAAGGTGTTCGATTCAAGGT 0.328000 7 22 0 0 1 0 0 CCAR2 57805 broad.mit.edu 37 8 22475940 22475940 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:22475940G>A ENST00000308511.4 + 17 2401 c.2152G>A c.(2152-2154)Ggc>Agc p.G718S KIAA1967_ENST00000520861.1_Missense_Mutation_p.G393S|KIAA1967_ENST00000389279.3_Missense_Mutation_p.G718S Q8N163 K1967_HUMAN 718 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CAACTGGTGTGGCTACTTGCA 0.542000 31 122 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140772636 140772636 + Missense_Mutation SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:140772636T>C ENST00000371372.1 + 1 396 c.251T>C c.(250-252)gTc>gCc p.V84A CACNA1B_ENST00000277551.2_Missense_Mutation_p.V84A|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V84A|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V84A|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V84A|CACNA1B_ENST00000277549.5_5'UTR|RP11-188C12.3_ENST00000371390.1_RNA NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 84 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GACAACGTCGTCCGCAAATAC 0.706000 4 13 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72987747 72987747 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:72987747G>A ENST00000305632.5 - 4 742 c.501C>T c.(499-501)acC>acT p.T167T TBL2_ENST00000452475.1_Silent_p.T167T|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.T131T NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 167 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CCTCCCGCTTGGTCATCTTGA 0.562000 33 60 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 289909 289909 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:289909G>A ENST00000419098.1 - 2 49 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 CTTCTGGAGAGAATTCTATGG 0.418000 6 56 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237791261 237791261 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:237791261G>A ENST00000366574.2 + 41 6638 c.6321G>A c.(6319-6321)acG>acA p.T2107T RYR2_ENST00000360064.6_Silent_p.T2105T|RYR2_ENST00000542537.1_Silent_p.T2091T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2107 4 X approximate repeats. 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) AGACCTACACGATAAATGGTG 0.547000 11 29 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124288315 124288315 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:124288315A>T ENST00000409039.3 + 16 2393 c.2368A>T c.(2368-2370)Ata>Tta p.I790L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 790 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCTGACATTAATAGAGGCCAT 0.408000 5 33 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27781295 27781295 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr16:27781295C>T ENST00000261588.4 + 21 4108 c.4089C>T c.(4087-4089)ttC>ttT p.F1363F NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1363 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 AAATCCTCTTCGTGGACTACC 0.642000 30 123 0 0 1 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099508 142099508 + RNA SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:142099508G>A ENST00000390359.3 - 0 332 GTGTGCGCTGGATCTTCAGAG 0.532000 6 69 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21125066 21125066 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:21125066G>A ENST00000269228.5 - 12 2359 c.1805C>T c.(1804-1806)tCc>tTc p.S602F NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S284F NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 602 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGCAGTGAAGGAAATGGTCAG 0.318000 9 35 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764646 82764646 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:82764646G>A ENST00000423517.2 - 3 2557 c.2220C>T c.(2218-2220)gtC>gtT p.V740V PCLO_ENST00000333891.8_Silent_p.V740V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 686 Pro-rich. 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 GCTCAGATGGGACAGAAGGTT 0.517000 11 39 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133485236 133485236 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:133485236C>T ENST00000402696.3 + 12 1930 c.1445C>T c.(1444-1446)cCc>cTc p.P482L TF_ENST00000264998.3_Missense_Mutation_p.P355L NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 482 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGGAACATCCCCATGGGCCTG 0.542000 35 95 0 0 1 0 0 NUP62 23636 broad.mit.edu 37 19 50411602 50411602 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:50411602A>T ENST00000596217.1 - 2 3350 c.1463T>A c.(1462-1464)aTc>aAc p.I488N IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.I488N|NUP62_ENST00000597029.1_Missense_Mutation_p.I488N|NUP62_ENST00000413454.1_Missense_Mutation_p.I488N|NUP62_ENST00000352066.3_Missense_Mutation_p.I488N|NUP62_ENST00000597723.1_Missense_Mutation_p.I412N|IL4I1_ENST00000595948.1_Intron P37198 NUP62_HUMAN nucleoporin 62kDa 488 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTTCTGGTCGATCCACTGCAG 0.627000 23 104 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183515287 183515287 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:183515287C>T ENST00000367537.3 + 18 2701 c.2506C>T c.(2506-2508)Ccc>Tcc p.P836S SMG7_ENST00000347615.2_Missense_Mutation_p.P853S|SMG7_ENST00000515829.2_Missense_Mutation_p.P807S|SMG7_ENST00000507469.1_Missense_Mutation_p.P807S|SMG7_ENST00000508461.1_Missense_Mutation_p.P811S|SMG7_ENST00000456731.2_Missense_Mutation_p.P765S Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 853 Gln/Pro-rich. 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 GAAGCCTTTTCCCATGGAGCC 0.448000 27 43 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54880844 54880844 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:54880844C>T ENST00000333896.5 + 26 6022 c.5637C>T c.(5635-5637)gcC>gcT p.A1879A SPTBN1_ENST00000356805.4_Silent_p.A1892A NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1892 Interaction with ANK2. 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) TCCTGGAAGCCTGGAAGTCCC 0.642000 7 48 0 0 1 0 0 YBX2 51087 broad.mit.edu 37 17 7195347 7195347 + Nonsense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:7195347G>A ENST00000007699.5 - 3 430 c.367C>T c.(367-369)Cag>Tag p.Q123* YBX2_ENST00000570627.1_5'UTR NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 123 CSD.|Required for cytoplasmic retention (By similarity). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 GCTCTTACCTGGTGAACAAAG 0.527000 16 45 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132399018 132399018 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:132399018G>A ENST00000331898.7 - 3 1041 c.463C>T c.(463-465)Ctg>Ttg p.L155L OPCML_ENST00000541867.1_Silent_p.L155L|OPCML_ENST00000374778.4_Silent_p.L114L|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.L148L NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 155 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) AGACACAGCAGGGTCACACTG 0.473000 5 36 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120774820 120774820 + Missense_Mutation SNP A A C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:120774820A>C ENST00000378164.2 - 19 2691 c.2393T>G c.(2392-2394)aTg>aGg p.M798R TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 798 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGCATCAATCATTTCTGCACG 0.328000 5 19 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202739 140202739 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:140202739C>T ENST00000529859.1 + 1 1379 c.1379C>T c.(1378-1380)aCc>aTc p.T460I PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T460I|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T460I 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) CCCCAGTATACCGTGTTCGTG 0.667000 25 95 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41630625 41630625 + Splice_Site SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:41630625C>T ENST00000331105.2 + 8 1038 c.964_splice c.e8-1 p.A322_splice NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 322 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CCTCTCCAGCCCGCGTGCAGG 0.682000 8 27 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68248219 68248219 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:68248219G>A ENST00000347230.4 - 22 4538 c.4400C>T c.(4399-4401)cCc>cTc p.P1467L ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1467L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1467 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) ATCCTTCACGGGAAACAGGTA 0.502000 6 46 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141607745 141607745 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:141607745C>T ENST00000389484.3 - 29 5836 c.4865G>A c.(4864-4866)tGg>tAg p.W1622* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1622 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATATCTGTCCAGTATAAACG 0.353000 TSP Lung(27;0.18) 6 39 0 0 1 0 0 PDCD10 11235 broad.mit.edu 37 3 167414821 167414821 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:167414821G>A ENST00000392750.2 - 5 661 c.244C>T c.(244-246)Cgt>Tgt p.R82C PDCD10_ENST00000492396.1_Missense_Mutation_p.R19C|PDCD10_ENST00000473645.2_Missense_Mutation_p.R82C|PDCD10_ENST00000487947.2_Missense_Mutation_p.R82C|PDCD10_ENST00000497056.2_Missense_Mutation_p.R82C|PDCD10_ENST00000471885.1_Missense_Mutation_p.R82C|PDCD10_ENST00000461494.1_Missense_Mutation_p.R82C|PDCD10_ENST00000470131.1_Missense_Mutation_p.R82C NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 82 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 GCTGCCATACGAAGAAGGGAC 0.348000 20 45 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93117951 93117951 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:93117951C>T ENST00000216487.7 + 6 716 c.557C>T c.(556-558)cCt>cTt p.P186L RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 186 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) TCGCTGAATCCTCCACAAGAA 0.627000 17 73 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26166122 26166122 + Nonsense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:26166122C>T ENST00000335473.7 + 5 1808 c.1558C>T c.(1558-1560)Cag>Tag p.Q520* MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q520*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q520* NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 520 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 CTGGCTGGCTCAGAAGGATGG 0.517000 24 24 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433486 55433486 + Missense_Mutation SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:55433486C>A ENST00000314259.3 + 1 873 c.844C>A c.(844-846)Ccc>Acc p.P282T NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CATGTTAAATCCCTTGATCTA 0.458000 16 39 2.48551e-13 2.56679e-13 1 1 0 NAV2 89797 broad.mit.edu 37 11 20112483 20112483 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:20112483G>A ENST00000396085.1 + 28 5941 c.5580G>A c.(5578-5580)atG>atA p.M1860I NAV2_ENST00000540292.1_Missense_Mutation_p.M1847I|NAV2_ENST00000527559.2_Missense_Mutation_p.M1845I|NAV2_ENST00000533917.1_Missense_Mutation_p.M921I|NAV2_ENST00000311043.8_Missense_Mutation_p.M921I|NAV2_ENST00000360655.4_Missense_Mutation_p.M1793I|NAV2_ENST00000349880.4_Missense_Mutation_p.M1857I|NAV2_ENST00000396087.3_Missense_Mutation_p.M1916I NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1916 nucleus ATP binding|helicase activity p.M1916I(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ACAAGGAGATGAAGCTGACGG 0.507000 4 27 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175365764 175365764 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:175365764C>T ENST00000367674.1 - 5 1864 c.1156G>A c.(1156-1158)Gag>Aag p.E386K TNR_ENST00000263525.2_Missense_Mutation_p.E386K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 386 Fibronectin type-III 1. 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) AGACCTGGCTCCAGCTCCGTG 0.592000 8 40 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 124012337 124012337 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:124012337C>T ENST00000456829.2 + 16 2163 c.1912C>T c.(1912-1914)Cct>Tct p.P638S VWA5A_ENST00000360334.4_Silent_p.L399L|VWA5A_ENST00000392748.1_Missense_Mutation_p.P638S NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 638 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TGACCGTCCTCCTTCTGCATC 0.478000 19 50 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47571147 47571147 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:47571147G>A ENST00000273859.3 + 16 3416 c.3147G>A c.(3145-3147)gtG>gtA p.V1049V NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1049 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 ATCTCCAGGTGATGACCCTTG 0.527000 7 26 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841442 208841442 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:208841442G>A ENST00000457206.1 - 3 1906 c.1479C>T c.(1477-1479)agC>agT p.S493S PLEKHM3_ENST00000389247.4_Silent_p.S493S|PLEKHM3_ENST00000427836.2_Silent_p.S493S Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 493 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 TGCTCAGGAAGCTGGTAGTCA 0.453000 7 11 0 0 1 0 0 IFNG 3458 broad.mit.edu 37 12 68551724 68551724 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:68551724C>T ENST00000229135.3 - 3 466 c.335G>A c.(334-336)cGa>cAa p.R112Q IFNG-AS1_ENST00000536914.1_RNA NM_000619.2 NP_000610.2 P01579 IFNG_HUMAN interferon, gamma 112 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) GAAGTCATCTCGTTTCTTTTT 0.358000 7 69 0 0 1 0 0 APPL1 26060 broad.mit.edu 37 3 57282366 57282366 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:57282366C>T ENST00000288266.3 + 10 997 c.850C>T c.(850-852)Ctt>Ttt p.L284F NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 284 PH.|Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GGCTGGATACCTTAATGCTAG 0.343000 7 45 0 0 1 0 0 SCYL3 57147 broad.mit.edu 37 1 169842890 169842890 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr1:169842890G>A ENST00000367772.4 - 5 666 c.469C>T c.(469-471)Ctg>Ttg p.L157L SCYL3_ENST00000367770.1_Silent_p.L157L|SCYL3_ENST00000367771.5_Silent_p.L157L|SCYL3_ENST00000470238.1_5'UTR NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 157 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATACTCCTCAGAAACTAGACA 0.348000 16 28 0 0 1 0 0 MIEF2 125170 broad.mit.edu 37 17 18167550 18167550 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:18167550C>T ENST00000323019.4 + 4 1048 c.837C>T c.(835-837)atC>atT p.I279I SMCR7_ENST00000395706.2_Silent_p.I290I|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 279 integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) GGTGCCTGATCCGGCCCAGCA 0.667000 14 35 0 0 1 0 0 SLC10A1 6554 broad.mit.edu 37 14 70263783 70263783 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:70263783G>A ENST00000216540.4 - 1 223 c.90C>T c.(88-90)atC>atT p.I30I NM_003049.3 NP_003040.1 Q14973 NTCP_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 1 30 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1) 14 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) TGAACACCAGGATGACGCTCA 0.567000 10 58 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40776320 40776320 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:40776320G>A ENST00000381782.2 + 5 1022 c.527G>A c.(526-528)cGa>cAa p.R176Q NSUN7_ENST00000316607.5_Missense_Mutation_p.R176Q|NSUN7_ENST00000463952.1_3'UTR NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 GCAAGATGTCGAATCAAGCAT 0.378000 24 38 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128707645 128707645 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:128707645C>T ENST00000265068.5 - 3 546 c.379G>A c.(379-381)Gat>Aat p.D127N KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D15N|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D127N NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 127 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 GGTTCTTCATCGTCCGGCAGA 0.403000 7 18 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9009814 9009814 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:9009814G>A ENST00000299698.7 + 24 3083 c.2903G>A c.(2902-2904)aGt>aAt p.S968N A2ML1_ENST00000539547.1_Missense_Mutation_p.S477N NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 812 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CAGATGCCCAGTGGCTGTGGC 0.552000 31 76 0 0 1 0 0 MLLT1 4298 broad.mit.edu 37 19 6227094 6227094 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:6227094C>T ENST00000252674.7 - 5 603 c.440G>A c.(439-441)gGa>gAa p.G147E NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 147 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 CGTGTCTGCTCCTTCGGGCAT 0.602000 T MLL AL 10 43 0 0 1 0 0 MS4A6A 64231 broad.mit.edu 37 11 59940566 59940566 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:59940566C>T ENST00000528851.1 - 6 726 c.586G>A c.(586-588)Gaa>Aaa p.E196K MS4A6A_ENST00000323961.3_Missense_Mutation_p.E196K|MS4A6A_ENST00000529054.1_Missense_Mutation_p.E224K|MS4A6A_ENST00000426738.2_Missense_Mutation_p.E151K|MS4A6A_ENST00000530839.1_Missense_Mutation_p.E196K|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G97E|MS4A6A_ENST00000412309.2_Missense_Mutation_p.E224K|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G161E Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 196 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGCAGAATTCCAGCAGAGTG 0.498000 31 95 0 0 1 0 0 IGHV1-45 28466 broad.mit.edu 37 14 106963009 106963009 + RNA SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:106963009C>T ENST00000390621.2 - 0 330 TAGACCTGTCCCTGGTAATGG 0.507000 46 99 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079269 57079269 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:57079269G>A ENST00000316981.3 - 5 1515 c.1036C>T c.(1036-1038)Cct>Tct p.P346S PLAG1_ENST00000423799.2_Missense_Mutation_p.P264S|PLAG1_ENST00000429357.2_Missense_Mutation_p.P346S NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 346 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TCTTTTTCAGGAATAGAAATT 0.428000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 28 80 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41003741 41003741 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:41003741C>T ENST00000308423.2 + 1 541 c.381C>T c.(379-381)atC>atT p.I127I NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 127 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CACTGGCCATCGTCTTCTTTG 0.647000 7 24 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418833 105418833 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:105418833G>A ENST00000333244.5 - 7 3074 c.2955C>T c.(2953-2955)tcC>tcT p.S985S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 985 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) TGTCGGCCAGGGACAGGTCCC 0.612000 71 252 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7722072 7722072 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:7722072G>A ENST00000572933.1 + 70 12108 c.10648G>A c.(10648-10650)Gag>Aag p.E3550K DNAH2_ENST00000389173.2_Missense_Mutation_p.E3550K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3550 AAA 5 (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) GAAGCTCAAGGAGCTGGAGGA 0.627000 15 51 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20038380 20038380 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:20038380G>A ENST00000440926.1 - 3 566 c.96C>T c.(94-96)ctC>ctT p.L32L SLC18A1_ENST00000519026.1_Silent_p.L32L|SLC18A1_ENST00000437980.1_Silent_p.L32L|SLC18A1_ENST00000276373.5_Silent_p.L32L|SLC18A1_ENST00000265808.7_Silent_p.L32L|SLC18A1_ENST00000381608.4_Silent_p.L32L NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 32 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) TGTTGTCCAGGAGCAAAGCGA 0.577000 9 25 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241685279 241685279 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:241685279G>A ENST00000498729.2 - 31 3496 c.3250C>T c.(3250-3252)Ctg>Ttg p.L1084L KIF1A_ENST00000320389.7_Silent_p.L983L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 983 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGCCCATCCAGGGCGGCTTTC 0.612000 3 19 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836757 43836757 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:43836757C>T ENST00000372781.3 + 2 876 c.819C>T c.(817-819)ctC>ctT p.L273L SEMG1_ENST00000244069.6_Silent_p.L273L NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CAAAAAATCTCAATCAAGATC 0.393000 32 52 0 0 1 0 0 G3BP1 10146 broad.mit.edu 37 5 151166205 151166205 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:151166205C>T ENST00000394123.3 + 2 169 c.24C>T c.(22-24)ccC>ccT p.P8P G3BP1_ENST00000356245.3_Silent_p.P8P|G3BP1_ENST00000543466.1_5'UTR Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 8 Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) AGCCTAGTCCCCTGCTGGTCG 0.478000 24 54 0 0 1 0 0 KLHL40 131377 broad.mit.edu 37 3 42727451 42727451 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:42727451C>T ENST00000287777.4 + 1 441 c.341C>T c.(340-342)cCt>cTt p.P114L NM_152393.2 NP_689606.2 kelch-like family member 40 TTCCAGATCCCTTCCATCTTC 0.622000 21 108 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639635 149639635 + Missense_Mutation SNP A A T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:149639635A>T ENST00000370401.2 + 4 2100 c.1790A>T c.(1789-1791)cAg>cTg p.Q597L MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L Q13495 MAMD1_HUMAN mastermind-like domain containing 1 597 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TTgcagctgcagcagcagcag 0.607000 3 48 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 4 135 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47686994 47686994 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr21:47686994G>A ENST00000397708.1 - 11 2945 c.2691C>T c.(2689-2691)acC>acT p.T897T MCM3AP_ENST00000291688.1_Silent_p.T897T O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 897 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) GGGGAAAGATGGTAGATCGCT 0.582000 12 7 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70040442 70040442 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:70040442G>A ENST00000370598.1 + 23 3901 c.3080G>A c.(3079-3081)gGa>gAa p.G1027E BAI3_ENST00000238918.8_Missense_Mutation_p.G233E NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1027 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) GCTTTTGTGGGACCTGCAGCC 0.363000 13 30 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27010017 27010017 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:27010017G>A ENST00000314616.6 + 15 2068 c.1785G>A c.(1783-1785)caG>caA p.Q595Q SUPT6H_ENST00000347486.4_Silent_p.Q595Q NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 595 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TAGCCCTGCAGATTGCCCGTG 0.552000 5 17 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129519149 129519149 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:129519149G>A ENST00000276218.2 - 1 362 c.273C>T c.(271-273)gcC>gcT p.A91A NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 91 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 TGAGGACAGAGGCAGCTGCGG 0.587000 21 78 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74097455 74097455 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:74097455G>A ENST00000607838.1 - 4 408 c.314C>T c.(313-315)cCc>cTc p.P105L EXOC7_ENST00000411744.2_Missense_Mutation_p.P105L|EXOC7_ENST00000406660.3_Missense_Mutation_p.P105L|EXOC7_ENST00000405575.4_Missense_Mutation_p.P105L|EXOC7_ENST00000589210.1_Missense_Mutation_p.P105L|EXOC7_ENST00000335146.7_Missense_Mutation_p.P105L|EXOC7_ENST00000332065.5_Missense_Mutation_p.P105L|EXOC7_ENST00000467929.2_Missense_Mutation_p.P64L NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 105 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) CCTACCTGTGGGGCTGGGAAA 0.512000 26 58 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158412723 158412723 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:158412723G>A ENST00000243349.7 - 3 786 c.426C>T c.(424-426)tcC>tcT p.S142S ACVR1C_ENST00000409680.3_Silent_p.S92S|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 142 apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 TCTTCCTGTAGGAGCACTGTC 0.483000 8 15 0 0 1 0 0 OR10A3 26496 broad.mit.edu 37 11 7960392 7960392 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:7960392G>A ENST00000360759.3 - 1 749 c.676C>T c.(676-678)Ctg>Ttg p.L226L NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCATCTTCAGGATGGCAAAC 0.433000 14 44 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041132 64041132 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:64041132G>A ENST00000324472.4 - 5 785 c.602C>T c.(601-603)tCc>tTc p.S201F RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 201 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GCAATACCAGGAGGCTATGAT 0.299000 7 43 0 0 1 0 0 ABHD13 84945 broad.mit.edu 37 13 108882071 108882071 + Missense_Mutation SNP T T C TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr13:108882071T>C ENST00000375898.3 + 2 806 c.505T>C c.(505-507)Tct>Cct p.S169P NM_032859.2 NP_116248.2 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 169 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTACTTAGATTCTGAAGCTGT 0.388000 20 37 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28714649 28714649 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr18:28714649C>T ENST00000257197.3 - 12 2023 c.1762G>A c.(1762-1764)Gag>Aag p.E588K RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E588K NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 588 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GCAAAATCCTCATTATTCTGA 0.393000 12 12 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81591770 81591770 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:81591770C>T ENST00000356860.3 - 35 3160 c.2822G>A c.(2821-2823)cGa>cAa p.R941Q CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R953Q|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.R153Q NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 953 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTCAAGGAGTCGTGGAAAGGT 0.328000 5 7 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73932595 73932595 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr7:73932595C>T ENST00000476977.1 + 5 2239 c.548C>T c.(547-549)cCc>cTc p.P183L GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P215L|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P183L|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P183L Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 183 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GAGTATGACCCCAAGGCCCTC 0.682000 5 29 0 0 1 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48250288 48250288 + Splice_Site SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:48250288G>A ENST00000246802.5 + 2 327 c.289_splice c.e2+1 p.G97_splice GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 97 nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) CAAGGAAAAAGGTGAGGAGAG 0.483000 16 30 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13616159 13616159 + Nonsense_Mutation SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:13616159C>A ENST00000040738.5 - 4 970 c.835G>T c.(835-837)Gag>Tag p.E279* NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 279 DNA binding TCGCTGAACTCTTCAGACTTT 0.398000 16 35 6.49762e-13 6.67653e-13 1 1 0 DOCK11 139818 broad.mit.edu 37 X 117742078 117742078 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chrX:117742078G>A ENST00000276204.6 + 25 2799 c.2725G>A c.(2725-2727)Gat>Aat p.D909N DOCK11_ENST00000276202.7_Missense_Mutation_p.D909N Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 909 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 AGAAGGCTTGGATAGTTATCT 0.318000 19 16 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2928815 2928815 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:2928815C>T ENST00000397461.1 + 9 1231 c.847C>T c.(847-849)Cct>Tct p.P283S CNTN4_ENST00000358480.3_Missense_Mutation_p.P64S|CNTN4_ENST00000427331.1_Missense_Mutation_p.P283S|CNTN4_ENST00000418658.1_Missense_Mutation_p.P283S NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 283 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCTTGAGATCCCTAATTTTCA 0.418000 3 34 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50148380 50148380 + Missense_Mutation SNP G G T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:50148380G>T ENST00000360565.3 + 2 221 c.97G>T c.(97-99)Gcc>Tcc p.A33S NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 33 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TTCTCCTTCTGCCTTTATCCT 0.637000 3 22 0.004672 0.00470063 1 1 0 KRT38 8687 broad.mit.edu 37 17 39596955 39596955 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:39596955G>A ENST00000246646.3 - 1 218 c.219C>T c.(217-219)tgC>tgT p.C73C NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 73 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) AAGCAGTGTGGCAGGTAGGCG 0.607000 16 54 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747348 62747348 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:62747348G>A ENST00000377871.3 - 7 1376 c.1110C>T c.(1108-1110)atC>atT p.I370I SLC22A6_ENST00000360421.4_Silent_p.I370I|SLC22A6_ENST00000421062.2_Silent_p.I370I|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Silent_p.I370I NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 370 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGATCACCTGGATTAGGTAGA 0.562000 8 51 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30857429 30857429 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr22:30857429C>T ENST00000403066.1 - 12 1055 c.772G>A c.(772-774)Gga>Aga p.G258R SEC14L3_ENST00000402286.1_Missense_Mutation_p.G240R|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G240R|SEC14L3_ENST00000539629.1_Missense_Mutation_p.G258R|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G258R|SEC14L3_ENST00000215812.4_Missense_Mutation_p.G317R|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G258R Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 317 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) AGGAAAACTCCGAAGCCGATG 0.602000 21 29 0 0 1 0 0 CEP57L1 285753 broad.mit.edu 37 6 109481892 109481892 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:109481892C>T ENST00000407272.1 + 12 1711 c.1134C>T c.(1132-1134)atC>atT p.I378I CEP57L1_ENST00000368968.2_Silent_p.I378I|CEP57L1_ENST00000368970.2_Silent_p.I395I|CEP57L1_ENST00000359793.3_Silent_p.I378I|CEP57L1_ENST00000521522.1_Silent_p.I325I|CEP57L1_ENST00000523787.1_Silent_p.I381I|CEP57L1_ENST00000517392.1_Silent_p.I378I|CEP57L1_ENST00000520883.1_Silent_p.I278I|CEP57L1_ENST00000336977.4_Silent_p.I278I NM_001083535.1 NP_001077004.1 Q8IYX8 CE57L_HUMAN centrosomal protein 57kDa-like 1 378 microtubule|microtubule organizing center endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1) 11 GAGAACAAATCTCCAAACTGA 0.333000 12 18 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34184278 34184278 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:34184278G>A ENST00000435224.2 - 10 2487 c.2063C>T c.(2062-2064)gCc>gTc p.A688V ABTB2_ENST00000298992.2_Missense_Mutation_p.A502V NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 502 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) CACACCCTCGGCCAGGATCTC 0.657000 14 36 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16769383 16769383 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:16769383C>T ENST00000381323.3 - 3 225 c.5G>A c.(4-6)gGa>gAa p.G2E FAM49A_ENST00000406434.1_Missense_Mutation_p.G2E|FAM49A_ENST00000355549.2_Missense_Mutation_p.G2E NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 2 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GAGCAGGTTTCCCATCCCAGC 0.378000 10 19 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102342683 102342683 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:102342683C>T ENST00000438793.3 + 18 2452 c.1982C>T c.(1981-1983)cCa>cTa p.P661L PAM_ENST00000348126.2_Missense_Mutation_p.P554L|PAM_ENST00000455264.2_Missense_Mutation_p.P661L|PAM_ENST00000379787.4_Missense_Mutation_p.P41L|PAM_ENST00000346918.2_Missense_Mutation_p.P661L|PAM_ENST00000274392.9_Missense_Mutation_p.P564L|PAM_ENST00000304400.7_Missense_Mutation_p.P661L NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 661 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CAGTTTTCACCAAGTGGAAAG 0.443000 10 25 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889228 147889228 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:147889228G>A ENST00000360693.3 - 6 1005 c.867C>T c.(865-867)gtC>gtT p.V289V HTR4_ENST00000517929.1_Silent_p.V289V|HTR4_ENST00000354217.2_Silent_p.V289V|HTR4_ENST00000521735.1_Silent_p.V289V|HTR4_ENST00000521530.1_Silent_p.V289V|HTR4_ENST00000314512.6_Silent_p.V289V|HTR4_ENST00000520514.1_Silent_p.V289V|HTR4_ENST00000362016.2_Silent_p.V303V|HTR4_ENST00000377888.3_Silent_p.V289V NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 289 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CCTGCCCAGGGACAGTGTAGT 0.493000 10 30 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44549970 44549970 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:44549970C>T ENST00000541738.1 - 12 2039 c.1653G>A c.(1651-1653)acG>acA p.T551T PREPL_ENST00000260648.6_Silent_p.T640T|PREPL_ENST00000378511.3_Silent_p.T578T|PREPL_ENST00000410081.1_Silent_p.T640T|PREPL_ENST00000409957.1_Silent_p.T551T|PREPL_ENST00000378520.3_Silent_p.T574T|PREPL_ENST00000409936.1_Silent_p.T640T|PREPL_ENST00000409272.1_Silent_p.T640T|PREPL_ENST00000409411.1_Silent_p.T551T NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 640 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTCATATGCCGTTATGTGAA 0.388000 24 63 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36641225 36641225 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr20:36641225G>A ENST00000373448.2 - 3 1232 c.994C>T c.(994-996)Ctt>Ttt p.L332F TTI1_ENST00000449821.1_Missense_Mutation_p.L332F|TTI1_ENST00000373447.3_Missense_Mutation_p.L332F|TTI1_ENST00000487362.1_Intron NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 332 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 GCCTTCAGAAGGGGACCAGCA 0.453000 19 67 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56819251 56819251 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr6:56819251C>T ENST00000370754.5 - 1 134 c.135G>A c.(133-135)ggG>ggA p.G45G Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 1. 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) TCGGATGCCTCCCTTTCTGGA 0.562000 10 15 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184368027 184368027 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:184368027C>T ENST00000504169.1 + 3 1397 c.1190C>T c.(1189-1191)gCt>gTt p.A397V CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 397 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-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;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TCCCAGTTGGCTTCTAAGAGT 0.458000 7 34 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51263190 51263190 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:51263190G>A ENST00000266037.9 + 15 1386 c.1363G>A c.(1363-1365)Gga>Aga p.G455R NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 455 DHR-1. 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) TTATGCAGATGGAGAAATCTT 0.428000 5 51 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89949514 89949514 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr5:89949514G>A ENST00000405460.2 + 20 4219 c.4123G>A c.(4123-4125)Gat>Aat p.D1375N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1375 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) TATAGCGAAGGATGACGGTAA 0.403000 3 17 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 140001791 140001791 + Silent SNP C C A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:140001791C>A ENST00000371589.4 + 11 1729 c.1656C>A c.(1654-1656)ctC>ctA p.L552L MAN1B1_ENST00000474902.1_Silent_p.L255L|MAN1B1_ENST00000540391.1_3'UTR NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 552 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CCCAGGAGCTCATGGAGACTT 0.642000 25 51 6.32553e-13 6.50785e-13 1 1 0 KRT38 8687 broad.mit.edu 37 17 39596993 39596993 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr17:39596993G>A ENST00000246646.3 - 1 180 c.181C>T c.(181-183)Ccc>Tcc p.P61S NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 61 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CGGCCCAGGGGAGTGGACCCC 0.637000 10 60 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26241146 26241146 + Missense_Mutation SNP T T A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr10:26241146T>A ENST00000265944.5 + 3 273 c.107T>A c.(106-108)tTt>tAt p.F36Y MYO3A_ENST00000543632.1_Missense_Mutation_p.F36Y|MYO3A_ENST00000376301.1_Missense_Mutation_p.F36Y|MYO3A_ENST00000376302.1_Missense_Mutation_p.F36Y NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 36 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GGGAAAGTTTTTAAAGTATTG 0.308000 9 13 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114276687 114276687 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr4:114276687G>A ENST00000357077.4 + 38 6966 c.6913G>A c.(6913-6915)Gag>Aag p.E2305K ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2272K|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2272 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GACCTCTACTGAGAGTTTTCA 0.473000 6 32 0 0 1 0 0 CIZ1 25792 broad.mit.edu 37 9 130947941 130947941 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr9:130947941G>A ENST00000538431.1 - 5 720 c.473C>T c.(472-474)tCc>tTc p.S158F CIZ1_ENST00000393608.1_Missense_Mutation_p.S158F|CIZ1_ENST00000357558.5_Missense_Mutation_p.S158F|CIZ1_ENST00000541172.1_Missense_Mutation_p.S57F|CIZ1_ENST00000372954.1_Missense_Mutation_p.S134F|CIZ1_ENST00000372938.5_Missense_Mutation_p.S158F|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000325721.8_Missense_Mutation_p.S134F|CIZ1_ENST00000277465.4_Missense_Mutation_p.S158F|CIZ1_ENST00000372948.3_Missense_Mutation_p.S158F NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 158 nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 TCCCAGCAAGGACTGGCGAGT 0.612000 4 39 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342558 65342558 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:65342558C>T ENST00000402939.2 - 23 3883 c.3884G>A c.(3883-3885)cGa>cAa p.R1295Q MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1324 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GTCCTTGGGTCGGCATGCCCC 0.672000 6 71 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139691909 139691909 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr8:139691909C>T ENST00000303045.6 - 40 3469 c.3023G>A c.(3022-3024)gGa>gAa p.G1008E COL22A1_ENST00000435777.1_Intron|COL22A1_ENST00000341807.4_Intron NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1008 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) TCTGACTTTTCCGCAAGCAGC 0.418000 HNSCC(7;0.00092) 13 70 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121345544 121345544 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr3:121345544C>T ENST00000338040.4 + 4 2331 c.1917C>T c.(1915-1917)atC>atT p.I639I NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 639 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CTCAACAGATCTGGCAGTTCA 0.438000 27 95 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166003454 166003454 + Missense_Mutation SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:166003454G>A ENST00000360093.3 - 12 1957 c.1466C>T c.(1465-1467)tCa>tTa p.S489L SCN3A_ENST00000409101.3_Missense_Mutation_p.S489L|SCN3A_ENST00000283254.7_Missense_Mutation_p.S489L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 489 voltage-gated sodium channel complex voltage-gated sodium channel activity 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) ACTCAACTTTGATGCTTCTGA 0.443000 14 97 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63883877 63883877 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr11:63883877G>A ENST00000246841.3 + 2 1181 c.138G>A c.(136-138)acG>acA p.T46T MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 18 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.T46T(1) breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CCTTCCTGACGGAGGTCATCG 0.637000 10 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433511 179433511 + Missense_Mutation SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr2:179433511C>T ENST00000589042.1 - 326 77572 c.77348G>A c.(77347-77349)cGg>cAg p.R25783Q TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24142Q|TTN_ENST00000342992.6_Missense_Mutation_p.R23215Q|TTN_ENST00000460472.2_Missense_Mutation_p.R16718Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16843Q|TTN_ENST00000342175.6_Missense_Mutation_p.R16910Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24142 Fibronectin type-III 87. 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) TGCAAGGGACCGAGGATCACT 0.413000 8 37 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80732899 80732899 + Silent SNP G G A TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:80732899G>A ENST00000458043.2 + 42 4884 c.4878G>A c.(4876-4878)caG>caA p.Q1626Q OTOGL_ENST00000547103.1_Silent_p.Q1614Q NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTCAAGTCAGGAACTGTCCA 0.343000 19 42 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839057 15839057 + Silent SNP C C T TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr19:15839057C>T ENST00000305899.3 + 1 224 c.204C>T c.(202-204)gtC>gtT p.V68V NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TCCTCTCAGTCTCCGAGATCC 0.632000 18 78 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50616159 50616159 + Frame_Shift_Del DEL T T - TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr12:50616159delT ENST00000341247.4 - 4 424 c.275delA c.(274-276)acfs p.N92fs LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Frame_Shift_Del_p.N92fs|RP3-405J10.4_ENST00000551284.1_RNA NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 92 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 AGTGCTGCTGTTCCGTAGAGA 0.522 39 133 --- --- --- --- LGALS3 3958 broad.mit.edu 37 14 55604098 55604100 + In_Frame_Del DEL GAC GAC - TCGA-EB-A4IS-01A-21D-A25O-08 TCGA-EB-A4IS-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx DF965742-AF7A-4F45-B273-20A564C86430 7BF06178-FB1C-4F97-B228-2CE5BF1DAD71 g.chr14:55604098_55604100delGAC ENST00000254301.9 + 2 268_270 c.7_9delGAC c.(7-9)del p.D3del LGALS3_ENST00000553755.1_Intron|LGALS3_ENST00000554715.1_In_Frame_Del_p.D3del NM_002306.3 NP_002297.2 P17931 LEG3_HUMAN lectin, galactoside-binding, soluble, 3 3 cell differentiation|innate immune response|mRNA processing|RNA splicing mitochondrial inner membrane|plasma membrane|spliceosomal complex IgE binding|sugar binding central_nervous_system(1)|endometrium(1)|prostate(1) 3 GAAAATGGCAGACAATTTTTCGG 0.384 17 93 --- --- --- ---