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 ZNF532 55205 broad.mit.edu 37 18 56648784 56648784 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:56648784C>T ENST00000336078.4 + 10 4122 c.3346C>T c.(3346-3348)Cct>Tct p.P1116S ZNF532_ENST00000591230.1_Missense_Mutation_p.P1116S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1116S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1116S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1116S NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CATCAAGGACCCTGACCTGAA 0.463000 16 70 0 0 0.000308642 0 0 CNST 163882 broad.mit.edu 37 1 246810596 246810596 + Missense_Mutation SNP T T C rs143401878 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:246810596T>C ENST00000366513.4 + 9 1362 c.1093T>C c.(1093-1095)Tgc>Cgc p.C365R CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.C365R NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 365 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GGAGCTGCTCTGCAGCGCTGA 0.597000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 64 0 0 0.000132358 0 0 OR2A5 393046 broad.mit.edu 37 7 143747706 143747706 + Missense_Mutation SNP C C T rs149614119 by1000genomes TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:143747706C>T ENST00000408906.2 + 1 246 c.212C>T c.(211-213)tCg>tTg p.S71L NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S71L(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) ATTGATATTTCGTATGCTTCC 0.483000 22 65 0 0 0.000229342 0 0 EPHA6 285220 broad.mit.edu 37 3 97167475 97167475 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:97167475C>T ENST00000389672.5 + 7 1833 c.1795C>T c.(1795-1797)Ctt>Ttt p.L599F EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 504 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CATCACAGGTCTTAAGCCAGC 0.448000 6 79 0 0 3.59834e-05 0 0 SLC4A9 83697 broad.mit.edu 37 5 139743728 139743728 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:139743728G>A ENST00000230993.6 + 10 1451 c.1416G>A c.(1414-1416)acG>acA p.T472T SLC4A9_ENST00000506545.1_Silent_p.T448T|SLC4A9_ENST00000507527.1_Silent_p.T472T|SLC4A9_ENST00000506757.2_Silent_p.T448T|SLC4A9_ENST00000432095.2_Silent_p.T437T NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 472 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCAGCACGGGGCCAGTGC 0.617000 5 26 0 0 1.23904e-05 0 0 ERLEC1 27248 broad.mit.edu 37 2 54041754 54041754 + Missense_Mutation SNP T T A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:54041754T>A ENST00000185150.4 + 12 1432 c.1301T>A c.(1300-1302)cTa>cAa p.L434Q GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L380Q NM_015701.4 NP_056516.2 Q96DZ1 ERLEC_HUMAN endoplasmic reticulum lectin 1 434 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 ACTGTAAAACTAAAGTAAGTT 0.313000 7 34 0 0 0.000274275 0 0 LYRM1 57149 broad.mit.edu 37 16 20926983 20926983 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:20926983G>A ENST00000396052.2 + 4 506 c.106G>A c.(106-108)Gaa>Aaa p.E36K LYRM1_ENST00000562740.1_Intron|LYRM1_ENST00000568663.1_Missense_Mutation_p.E36K|LYRM1_ENST00000439021.1_Missense_Mutation_p.E36K|LYRM1_ENST00000219168.4_Missense_Mutation_p.E36K|LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000569023.1_Missense_Mutation_p.E36K|LYRM1_ENST00000567954.1_Missense_Mutation_p.E36K O43325 LYRM1_HUMAN LYR motif containing 1 36 nucleus large_intestine(1)|prostate(1) 2 CACCATCAAAGAAAAACAGTA 0.473000 6 90 0 0 3.59834e-05 0 0 SYNE1 23345 broad.mit.edu 37 6 152501270 152501270 + Splice_Site SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:152501270C>T ENST00000367255.5 - 129 24062 c.e129+1 SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 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) GCATTCCATACCTTCTTGAGC 0.383000 HNSCC(10;0.0054) 10 55 0 0 2.17888e-05 0 0 PSG8 440533 broad.mit.edu 37 19 43259419 43259419 + Splice_Site SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:43259419C>T ENST00000404209.4 - 4 806 c.e4-1 PSG8_ENST00000401467.2_Splice_Site|PSG8_ENST00000306511.4_Splice_Site|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Splice_Site NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGCAGCTTCGCTGTGTGGATA 0.483000 35 178 0 0 8.96297e-05 0 0 CCRL2 9034 broad.mit.edu 37 3 46450311 46450311 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:46450311C>T ENST00000399036.3 + 2 1093 c.741C>T c.(739-741)ttC>ttT p.F247F ACKR5_ENST00000357392.4_Silent_p.F259F|ACKR5_ENST00000400882.2_Silent_p.F247F|ACKR5_ENST00000400880.3_Silent_p.F247F NM_003965.4 NP_003956.2 TGGTAGTCTTCCTTCTGATGT 0.403000 23 292 0 0 0.000184323 0 0 TRPC5 7224 broad.mit.edu 37 X 111020090 111020090 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:111020090C>T ENST00000262839.2 - 11 3291 c.2373G>A c.(2371-2373)cgG>cgA p.R791R NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 791 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 TGGATTTGGCCCGAGCCCCAC 0.483000 18 100 0 0 0.000132079 0 0 CPT1C 126129 broad.mit.edu 37 19 50216782 50216782 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:50216782G>A ENST00000392518.4 + 20 2704 c.2332G>A c.(2332-2334)Gag>Aag p.E778K CPT1C_ENST00000598293.1_Missense_Mutation_p.E778K|CPT1C_ENST00000323446.5_Missense_Mutation_p.E778K|CPT1C_ENST00000354199.5_Missense_Mutation_p.E689K|CPT1C_ENST00000405931.2_Missense_Mutation_p.E767K NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 778 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GTCAGGGAAGGAGAACTCCAG 0.607000 13 79 0 0 0.000151284 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120938 38120938 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:38120938G>A ENST00000406386.3 + 7 2630 c.2375G>A c.(2374-2376)aGa>aAa p.R792K RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 792 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAACCCCAGAACATCCTGT 0.537000 6 50 0 0 3.59834e-05 0 0 NAV1 89796 broad.mit.edu 37 1 201780773 201780773 + Silent SNP C C A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:201780773C>A ENST00000367296.4 + 25 5260 c.4840C>A c.(4840-4842)Cgg>Agg p.R1614R NAV1_ENST00000367302.1_Silent_p.R1567R|NAV1_ENST00000367300.3_Silent_p.R1554R|NAV1_ENST00000367297.4_Silent_p.R1606R|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.R1220R|NAV1_ENST00000295624.6_Silent_p.R1611R NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1614 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCAGATAGACCGGGAAACAGG 0.517000 9 187 0.000274275 0.00719485 0.000274275 1 0 SLC38A4 55089 broad.mit.edu 37 12 47186763 47186763 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:47186763C>T ENST00000447411.1 - 2 298 c.92G>A c.(91-93)gGa>gAa p.G31E SLC38A4_ENST00000266579.4_Missense_Mutation_p.G31E NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 31 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TTCTGAATTTCCTATCCCGAT 0.428000 8 174 0 0 0.000274275 0 0 F13A1 2162 broad.mit.edu 37 6 6318852 6318852 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:6318852G>A ENST00000264870.3 - 2 311 c.46C>T c.(46-48)Cca>Tca p.P16S NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 16 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTATTGGGTGGAACTGCTCTT 0.498000 49 146 0 0 0.000147903 0 0 ZNF646 9726 broad.mit.edu 37 16 31087904 31087904 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:31087904C>T ENST00000394979.2 + 1 682 c.259C>T c.(259-261)Ccc>Tcc p.P87S ZNF646_ENST00000300850.5_Missense_Mutation_p.P87S O15015 ZN646_HUMAN zinc finger protein 646 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTTCTCCAATCCCATGGCTCT 0.637000 11 35 0 0 3.86212e-05 0 0 NIPBL 25836 broad.mit.edu 37 5 36986309 36986309 + Silent SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:36986309T>C ENST00000282516.8 + 10 3526 c.3027T>C c.(3025-3027)tcT>tcC p.S1009S NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.S1009S NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1009 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAAAACTGTCTTTGGATGATG 0.333000 44 249 0 0 0.000147903 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33956858 33956858 + Missense_Mutation SNP T T A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:33956858T>A ENST00000361328.3 + 6 1153 c.1000T>A c.(1000-1002)Ttc>Atc p.F334I ZSCAN20_ENST00000373413.2_Missense_Mutation_p.F280I NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 334 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GACCAAGACTTTCCTGGCAAT 0.522000 7 81 0 0 8.12818e-05 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784417 15784417 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:15784417G>A ENST00000550308.1 + 2 458 c.78G>A c.(76-78)gtG>gtA p.V26V CYP4F12_ENST00000324632.9_Silent_p.V26V NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TGCTGGTTGTGGGCTCCTGGC 0.632000 9 105 0 0 2.17888e-05 0 0 CTNNA3 29119 broad.mit.edu 37 10 69366759 69366759 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:69366759C>T ENST00000433211.1 - 3 322 c.148G>A c.(148-150)Gga>Aga p.G50R CTNNA3_ENST00000373744.4_Missense_Mutation_p.G50R|CTNNA3_ENST00000545309.1_Missense_Mutation_p.G50R NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 50 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TTCGAACGTCCTTTTTTCCTG 0.408000 10 68 0 0 3.86212e-05 0 0 DNTT 1791 broad.mit.edu 37 10 98087355 98087355 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:98087355G>A ENST00000419175.1 + 7 1175 c.1005G>A c.(1003-1005)cgG>cgA p.R335R DNTT_ENST00000371174.2_Silent_p.R335R NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 335 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) GAGGGTTCCGGAGGTAAATAA 0.547000 11 136 0 0 0.000308642 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27539511 27539511 + RNA SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:27539511G>A ENST00000574842.1 + 0 780 ACGCTCCGTAGGATGACATGG 0.562000 7 53 0 0 8.12818e-05 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908431 139908431 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:139908431C>T ENST00000297183.6 + 29 6024 c.5900C>T c.(5899-5901)cCt>cTt p.P1967L ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1967L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1967L|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P350L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGTGTGCCTAAGACAAGT 0.502000 26 131 0 0 7.16444e-05 0 0 KSR2 283455 broad.mit.edu 37 12 117964911 117964911 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:117964911G>A ENST00000425217.1 - 13 1783 c.1729C>T c.(1729-1731)Cca>Tca p.P577S KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.P303S|KSR2_ENST00000339824.5_Missense_Mutation_p.P606S NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 606 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGAAGTAATGGATTTCCTTCC 0.438000 33 181 0 0 0.000228196 0 0 MUC16 94025 broad.mit.edu 37 19 9009653 9009653 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:9009653C>T ENST00000397910.4 - 39 39276 c.39073G>A c.(39073-39075)Ggg>Agg p.G13025R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13027 SEA 7. 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 ATGTCCTCCCCATACTGCAGA 0.552000 12 75 0 0 6.40141e-05 0 0 EPG5 57724 broad.mit.edu 37 18 43535055 43535055 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:43535055C>T ENST00000282041.5 - 2 347 c.313G>A c.(313-315)Gaa>Aaa p.E105K NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 105 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 TCTCCCCCTTCCTTTGGGGGC 0.498000 15 59 0 0 0.000422831 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325760 37325760 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:37325760C>T ENST00000262825.5 + 6 846 c.629C>T c.(628-630)gCc>gTc p.A210V CSF2RB_ENST00000406230.1_Missense_Mutation_p.A210V|CSF2RB_ENST00000403662.3_Missense_Mutation_p.A210V|CSF2RB_ENST00000536485.1_Missense_Mutation_p.A151V NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 210 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) ACCTACGTGGCCCGAGTACGG 0.657000 9 25 0 0 2.17888e-05 0 0 SYNE1 23345 broad.mit.edu 37 6 152686086 152686086 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:152686086G>A ENST00000367255.5 - 63 10642 c.10041C>T c.(10039-10041)gtC>gtT p.V3347V SYNE1_ENST00000341594.5_Silent_p.V3386V|SYNE1_ENST00000448038.1_Silent_p.V3354V|SYNE1_ENST00000265368.4_Silent_p.V3347V|SYNE1_ENST00000423061.1_Silent_p.V3354V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3347 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) TATTCTGAAGGACAGATTCTC 0.433000 HNSCC(10;0.0054) 15 63 0 0 0.000308642 0 0 POTEA 340441 broad.mit.edu 37 8 43211927 43211927 + RNA SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:43211927G>A ENST00000522175.2 + 0 1250 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CAAAAATCCAGGATGCAGTTA 0.363000 10 68 0 0 0.000151284 0 0 KCTD5 54442 broad.mit.edu 37 16 2732753 2732753 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:2732753C>T ENST00000301738.4 + 1 278 c.204C>T c.(202-204)tcC>tcT p.S68S KCTD5_ENST00000564195.1_Silent_p.S68S NM_018992.3 NP_061865.1 Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 68 BTB. interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 ACCCGAAATCCTTCCTGTACC 0.682000 5 68 0 0 3.59834e-05 0 0 OR4A15 81328 broad.mit.edu 37 11 55135894 55135894 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:55135894G>A ENST00000314706.3 + 1 535 c.535G>A c.(535-537)Gga>Aga p.G179R NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GGCCTGGATTGGAGGCTTTCT 0.433000 35 171 0 0 0.000319135 0 0 TUBB2A 7280 broad.mit.edu 37 6 3154832 3154832 + Silent SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:3154832G>T ENST00000333628.3 - 4 665 c.603C>A c.(601-603)tcC>tcA p.S201S TUBB2A_ENST00000489942.1_5'UTR NM_001069.2 NP_001060.1 Q13885 TBB2A_HUMAN tubulin, beta 2A class IIa 201 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 Ovarian(93;0.0386) all_hematologic(90;0.0895) CGTTATCAATGGAGTAGGTTT 0.592000 7 108 0.000274275 0.00719485 0.000274275 1 0 CEP76 79959 broad.mit.edu 37 18 12691399 12691399 + Nonsense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:12691399G>A ENST00000262127.2 - 7 1117 c.892C>T c.(892-894)Cga>Tga p.R298* CEP76_ENST00000423709.2_Nonsense_Mutation_p.R223*|RP11-973H7.2_ENST00000585331.1_RNA NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 298 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGTGAGGGTCGAATTTGCAAA 0.348000 15 93 0 0 7.07596e-05 0 0 KEL 3792 broad.mit.edu 37 7 142640957 142640957 + Missense_Mutation SNP G G A rs147489746 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:142640957G>A ENST00000355265.2 - 14 1979 c.1505C>T c.(1504-1506)tCg>tTg p.S502L NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 502 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CAGGAAGCTCGATCCAAGCTG 0.547000 4 25 0 0 1.23904e-05 0 0 MYH1 4619 broad.mit.edu 37 17 10404762 10404762 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:10404762T>C ENST00000226207.5 - 27 3497 c.3403A>G c.(3403-3405)Aaa>Gaa p.K1135E CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1135 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTCTCTGCTTTGGCCCGGGAG 0.572000 6 45 0 0 3.59834e-05 0 0 SEPN1 57190 broad.mit.edu 37 1 26131760 26131760 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:26131760C>T ENST00000361547.2 + 4 586 c.531C>T c.(529-531)ttC>ttT p.F177F SEPN1_ENST00000374315.1_Silent_p.F143F|SEPN1_ENST00000354177.4_Silent_p.F143F NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 177 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|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;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) AAGATGGCTTCCTAGGGGTGA 0.567000 9 54 0 0 2.17888e-05 0 0 AMFR 267 broad.mit.edu 37 16 56423115 56423115 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:56423115G>T ENST00000290649.5 - 9 1468 c.1258C>A c.(1258-1260)Cac>Aac p.H420N NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 420 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TGGAAGAAGTGATTGTGTTGG 0.423000 6 90 2.0095e-06 5.41943e-05 8.12818e-05 1 0 ATXN7 6314 broad.mit.edu 37 3 63965609 63965609 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:63965609C>T ENST00000398590.3 + 6 1071 c.518C>T c.(517-519)tCc>tTc p.S173F ATXN7_ENST00000295900.6_Missense_Mutation_p.S173F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S173F|ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000487717.1_Missense_Mutation_p.S173F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S28F NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 173 Poly-Ser.|Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CATAGCTCATCCAGCAAGCCG 0.428000 7 73 0 0 0.000274275 0 0 IGHA2 3494 broad.mit.edu 37 14 106053516 106053516 + RNA SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:106053516C>T ENST00000390539.2 - 0 780 AGGTACTTCTCGCGGGGCAGC 0.647000 10 36 0 0 3.86212e-05 0 0 THSD7A 221981 broad.mit.edu 37 7 11632979 11632979 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:11632979G>A ENST00000423059.3 - 3 1424 c.1173C>T c.(1171-1173)acC>acT p.T391T NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 391 TSP type-1 3. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACTGCCTGATGGTTCGTGTCC 0.517000 HNSCC(18;0.044) 6 54 0 0 0.000157383 0 0 NSD1 64324 broad.mit.edu 37 5 176721292 176721292 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:176721292C>T ENST00000439151.2 + 23 6968 c.6923C>T c.(6922-6924)tCc>tTc p.S2308F NSD1_ENST00000347982.4_Missense_Mutation_p.S2039F|NSD1_ENST00000361032.4_Missense_Mutation_p.S2205F|NSD1_ENST00000354179.4_Missense_Mutation_p.S2039F NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2308 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAATCCCAATCCTTGGTTTCC 0.577000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 6 57 0 0 3.59834e-05 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816662 67816662 + Nonsense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:67816662G>A ENST00000265686.3 + 15 1896 c.1788G>A c.(1786-1788)tgG>tgA p.W596* TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.W380* NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 596 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 TGTGTGTCTGGGCTGCCAGGG 0.627000 11 91 0 0 3.86212e-05 0 0 AP3D1 8943 broad.mit.edu 37 19 2115260 2115260 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:2115260G>A ENST00000355272.6 - 20 2513 c.2307C>T c.(2305-2307)gcC>gcT p.A769A AP3D1_ENST00000345016.5_Silent_p.A769A|AP3D1_ENST00000356926.4_Silent_p.A678A|AP3D1_ENST00000350812.6_Silent_p.A600A NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 769 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 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) GCTGGGCAGGGGCGATGTCCT 0.602000 6 33 0 0 3.59834e-05 0 0 RBM12 10137 broad.mit.edu 37 20 34241050 34241050 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:34241050G>A ENST00000374114.3 - 3 2458 c.2195C>T c.(2194-2196)gCc>gTc p.A732V CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.A732V|RBM12_ENST00000374104.3_Missense_Mutation_p.A732V|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 732 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TGGCCCAAAGGCATTTGATCC 0.507000 22 122 0 0 0.000375601 0 0 FGD2 221472 broad.mit.edu 37 6 36981805 36981805 + Missense_Mutation SNP G G C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:36981805G>C ENST00000274963.8 + 6 923 c.752G>C c.(751-753)cGt>cCt p.R251P NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 251 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGAATTCCACGTTACGAGCTG 0.647000 13 67 0 0 0.000151284 0 0 LNPEP 4012 broad.mit.edu 37 5 96349474 96349474 + Missense_Mutation SNP C C A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:96349474C>A ENST00000231368.5 + 12 2850 c.2158C>A c.(2158-2160)Cct>Act p.P720T LNPEP_ENST00000395770.3_Missense_Mutation_p.P706T NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 720 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GAAAATAAATCCTTATGTTCT 0.338000 15 164 4.35082e-09 1.19009e-07 0.000175454 1 0 DPP10 57628 broad.mit.edu 37 2 116599896 116599896 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:116599896C>T ENST00000410059.1 + 26 2846 c.2366C>T c.(2365-2367)cCa>cTa p.P789L DPP10_ENST00000393147.2_Missense_Mutation_p.P793L|DPP10_ENST00000409163.1_Missense_Mutation_p.P739L|DPP10_ENST00000310323.8_Missense_Mutation_p.P782L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 789 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TCTGTGCTACCACAGGAACCA 0.373000 7 27 0 0 0.000274275 0 0 ABCA10 10349 broad.mit.edu 37 17 67145059 67145059 + Nonsense_Mutation SNP A A C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:67145059A>C ENST00000269081.4 - 40 5450 c.4541T>G c.(4540-4542)tTa>tGa p.L1514* ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1514 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) ACAGAGTTCTAAGAATACCTA 0.378000 17 80 0 0 0.000422831 0 0 AVPR1B 553 broad.mit.edu 37 1 206225076 206225076 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:206225076G>A ENST00000367126.4 + 1 1101 c.636G>A c.(634-636)gtG>gtA p.V212V NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 212 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TTCTGCCGGTGACCATGCTCA 0.617000 14 67 0 0 0.000308642 0 0 PPARA 5465 broad.mit.edu 37 22 46594477 46594477 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:46594477C>T ENST00000396000.2 + 3 462 c.197C>T c.(196-198)tCg>tTg p.S66L PPARA_ENST00000402126.1_Missense_Mutation_p.S66L|PPARA_ENST00000262735.5_Missense_Mutation_p.S66L|PPARA_ENST00000434345.2_Missense_Mutation_p.S66L|PPARA_ENST00000407236.1_Missense_Mutation_p.S66L Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 66 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TCAGATGGCTCGGTCATCACG 0.398000 6 84 0 0 0.000157383 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43939501 43939501 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:43939501C>T ENST00000282406.4 + 15 2549 c.2439C>T c.(2437-2439)acC>acT p.T813T NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 813 PH 2. 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) GCAAACCCACCATGAAGGGAT 0.488000 31 220 0 0 0.000409698 0 0 PCLO 27445 broad.mit.edu 37 7 82582497 82582497 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:82582497G>A ENST00000423517.2 - 5 8109 c.7772C>T c.(7771-7773)aCt>aTt p.T2591I PCLO_ENST00000333891.8_Missense_Mutation_p.T2591I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2522 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 ATCTGTTGGAGTCCCTGGTTC 0.448000 13 191 0 0 0.000219431 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 4 67 0 0 3.59834e-05 0 0 PER2 8864 broad.mit.edu 37 2 239180104 239180104 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:239180104G>A ENST00000254657.3 - 6 900 c.621C>T c.(619-621)atC>atT p.I207I PER2_ENST00000440245.1_Silent_p.I207I|PER2_ENST00000254658.3_Silent_p.I207I|PER2_ENST00000355768.2_Silent_p.I207I NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 207 PAS 1. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCTGGTCAGAGATGTACAGGA 0.522000 15 78 0 0 7.07596e-05 0 0 OR51L1 119682 broad.mit.edu 37 11 5020679 5020679 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:5020679G>A ENST00000321543.1 + 1 467 c.467G>A c.(466-468)gGa>gAa p.G156E NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CGAAGCTTGGGAGTTGTACTT 0.483000 39 128 0 0 0.000228196 0 0 RNF6 6049 broad.mit.edu 37 13 26789559 26789559 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:26789559G>A ENST00000381588.4 - 5 1212 c.460C>T c.(460-462)Cac>Tac p.H154Y RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.H154Y|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.H154Y NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 154 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TGATTTACGTGGATTTCCAAA 0.388000 24 91 0 0 7.16444e-05 0 0 MFSD7 84179 broad.mit.edu 37 4 680340 680340 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:680340G>A ENST00000322224.4 - 2 588 c.275C>T c.(274-276)tCc>tTc p.S92F MFSD7_ENST00000515118.1_Missense_Mutation_p.S92F|MFSD7_ENST00000503156.1_Missense_Mutation_p.S28F|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000347950.5_Missense_Mutation_p.S70F|MFSD7_ENST00000404286.2_Missense_Mutation_p.S92F Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 92 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 GAGCCCGACGGAGTCCAGGAT 0.647000 19 43 0 0 0.000132079 0 0 OTOA 146183 broad.mit.edu 37 16 21730463 21730463 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:21730463C>T ENST00000388958.3 + 15 1640 c.1639C>T c.(1639-1641)Ctg>Ttg p.L547L OTOA_ENST00000286149.4_Silent_p.L561L|OTOA_ENST00000388957.3_Silent_p.L223L|OTOA_ENST00000388956.4_Silent_p.L468L NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 561 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GGCTCTGTTCCTGTATGAGCT 0.522000 6 70 0 0 8.12818e-05 0 0 HSPA12A 259217 broad.mit.edu 37 10 118435910 118435910 + Splice_Site SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:118435910G>A ENST00000369209.3 - 11 1494 c.1390_splice c.e11+1 p.R464_splice NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 464 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) TGATACTTACGGAGATGCTCA 0.572000 9 87 0 0 3.86212e-05 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506290 178506290 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:178506290C>T ENST00000315475.6 + 5 1163 c.857C>T c.(856-858)aCc>aTc p.T286I NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) AACAGTTCAACCCTTATCAAA 0.423000 8 87 0 0 0.000157383 0 0 LETM2 137994 broad.mit.edu 37 8 38264880 38264880 + Splice_Site SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:38264880G>A ENST00000379957.4 + 10 1439 c.1311_splice c.e10-1 p.D438_splice LETM2_ENST00000527710.1_Splice_Site_p.D224_splice|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000524874.1_Splice_Site_p.D390_splice|LETM2_ENST00000523983.2_Splice_Site_p.D391_splice|LETM2_ENST00000297720.5_Splice_Site_p.D343_splice NM_001199659.1 NP_001186588.1 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 438 integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) GATGTTTAAGGATGAAGACTT 0.398000 5 60 0 0 1.23904e-05 0 0 CWH43 80157 broad.mit.edu 37 4 49034655 49034655 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:49034655C>T ENST00000226432.4 + 12 1764 c.1581C>T c.(1579-1581)atC>atT p.I527I CWH43_ENST00000513409.1_Silent_p.I500I NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 527 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AGGGCGAGATCGCACCAGCCA 0.483000 23 121 0 0 0.000229342 0 0 MCTP1 79772 broad.mit.edu 37 5 94353070 94353070 + Splice_Site SNP C C A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:94353070C>A ENST00000515393.1 - 2 838 c.e2+1 MCTP1_ENST00000429576.2_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000312216.8_Splice_Site NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 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) TATGCTCTTACCTCCTCGATC 0.403000 10 143 1.08611e-07 2.93739e-06 6.40141e-05 1 0 NEK10 152110 broad.mit.edu 37 3 27173431 27173431 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:27173431G>A ENST00000429845.2 - 35 3554 c.3192C>T c.(3190-3192)ttC>ttT p.F1064F NEK10_ENST00000295720.6_Silent_p.F376F|NEK10_ENST00000383770.3_Silent_p.F319F|NEK10_ENST00000383771.4_Silent_p.F366F Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 1064 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGGATTTCTTGAATCTCTCTA 0.323000 6 81 0 0 8.12818e-05 0 0 PTCD2 79810 broad.mit.edu 37 5 71648498 71648498 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:71648498G>A ENST00000380639.5 + 9 875 c.859G>A c.(859-861)Gaa>Aaa p.E287K PTCD2_ENST00000536805.1_Missense_Mutation_p.E115K|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Missense_Mutation_p.E178K|PTCD2_ENST00000543322.1_3'UTR NM_024754.3 NP_079030.3 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 287 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) AAATATGTTGGAAAACCTGAT 0.363000 13 38 0 0 0.00010058 0 0 GPATCH3 63906 broad.mit.edu 37 1 27217645 27217645 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:27217645G>A ENST00000361720.5 - 7 1457 c.1434C>T c.(1432-1434)tcC>tcT p.S478S NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 478 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) CATAGATGGTGGAGATGAGCC 0.547000 5 32 0 0 1.23904e-05 0 0 CYP2C8 1558 broad.mit.edu 37 10 96829127 96829127 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:96829127G>A ENST00000371270.3 - 1 127 c.33C>T c.(31-33)ctC>ctT p.L11L CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 11 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCATAAAAGAGAGACACAGCA 0.453000 5 45 0 0 1.23904e-05 0 0 DGKB 1607 broad.mit.edu 37 7 14724893 14724893 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:14724893C>T ENST00000403951.2 - 10 1225 c.806G>A c.(805-807)gGg>gAg p.G269E DGKB_ENST00000258767.5_Missense_Mutation_p.G269E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G269E|DGKB_ENST00000444700.2_Missense_Mutation_p.G262E|DGKB_ENST00000406247.3_Missense_Mutation_p.G269E|DGKB_ENST00000407950.1_Missense_Mutation_p.G262E|DGKB_ENST00000402815.1_Missense_Mutation_p.G269E Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 269 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GCCCTGCTTCCCCACGCCAAT 0.478000 10 61 0 0 0.00010058 0 0 GDF5 8200 broad.mit.edu 37 20 34022051 34022051 + Nonsense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:34022051G>A ENST00000374372.1 - 4 1665 c.1162C>T c.(1162-1164)Cag>Tag p.Q388* GDF5_ENST00000374369.3_Nonsense_Mutation_p.Q388*|GDF5OS_ENST00000374375.1_Nonsense_Mutation_p.W32* P43026 GDF5_HUMAN growth differentiation factor 5 388 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CGCTTGCCCTGGCGAGTGGCC 0.587000 17 174 0 0 9.7654e-05 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16532070 16532070 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:16532070G>A ENST00000270747.3 - 9 1680 c.1544C>T c.(1543-1545)cCc>cTc p.P515L ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 515 DH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CCTCTGGAAGGGCAGGATAAG 0.632000 5 24 0 0 3.59834e-05 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73490736 73490736 + Nonsense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:73490736G>A ENST00000556143.1 - 2 1201 c.481C>T c.(481-483)Cag>Tag p.Q161* ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q161*|ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q161* NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 161 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GTGCTTACCTGAATTTCTTCA 0.448000 20 206 0 0 0.000229342 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458255 42458255 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:42458255C>T ENST00000262407.5 - 13 1416 c.1385G>A c.(1384-1386)gGa>gAa p.G462E ITGA2B_ENST00000353281.4_Missense_Mutation_p.G462E|ITGA2B_ENST00000377068.3_Missense_Mutation_p.G147E NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 462 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) ACCTGGGTATCCGTTGTCATC 0.612000 11 104 0 0 0.000151284 0 0 MFSD4 148808 broad.mit.edu 37 1 205553164 205553164 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:205553164C>T ENST00000367147.4 + 4 865 c.772C>T c.(772-774)Ctg>Ttg p.L258L MFSD4_ENST00000539267.1_Silent_p.L258L|MFSD4_ENST00000536357.1_Silent_p.L171L NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 258 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCCCCTGCTTCTGTCTGCTGA 0.602000 11 59 0 0 0.000151284 0 0 DMD 1756 broad.mit.edu 37 X 31201000 31201000 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:31201000C>T ENST00000357033.4 - 68 10035 c.9829G>A c.(9829-9831)Gaa>Aaa p.E3277K DMD_ENST00000378702.4_Missense_Mutation_p.E209K|DMD_ENST00000359836.1_Missense_Mutation_p.E817K|DMD_ENST00000541735.1_Missense_Mutation_p.E817K|DMD_ENST00000474231.1_Missense_Mutation_p.E817K|DMD_ENST00000378723.3_Missense_Mutation_p.E209K|DMD_ENST00000361471.4_Missense_Mutation_p.E209K|DMD_ENST00000343523.2_Missense_Mutation_p.E817K|DMD_ENST00000378707.3_Missense_Mutation_p.E817K|DMD_ENST00000378680.2_Missense_Mutation_p.E209K|DMD_ENST00000378677.2_Missense_Mutation_p.E3273K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3277 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGGGCCGCTTCGATCTCTGGC 0.527000 10 22 0 0 3.86212e-05 0 0 AACS 65985 broad.mit.edu 37 12 125609487 125609487 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:125609487C>T ENST00000316519.6 + 12 1432 c.1226C>T c.(1225-1227)tCc>tTc p.S409F AACS_ENST00000316543.10_Missense_Mutation_p.S7F|AACS_ENST00000261686.6_Missense_Mutation_p.S409F|AACS_ENST00000545511.1_5'UTR NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 409 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ACGATCCTGTCCACTGGCTCC 0.557000 6 68 0 0 8.12818e-05 0 0 LAMB2 3913 broad.mit.edu 37 3 49162318 49162318 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:49162318G>A ENST00000418109.1 - 22 3089 c.2925C>T c.(2923-2925)gaC>gaT p.D975D LAMB2_ENST00000305544.4_Silent_p.D975D|LAMB2_ENST00000464891.1_5'UTR NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 975 Laminin EGF-like 9. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCTTGATGGGTCCCCAAAGT 0.612000 5 51 0 0 8.12818e-05 0 0 AADACL4 343066 broad.mit.edu 37 1 12726223 12726223 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:12726223C>T ENST00000376221.1 + 4 701 c.701C>T c.(700-702)tCc>tTc p.S234F NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 234 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CAGTTGCCATCCTTTCAGCAG 0.522000 16 162 0 0 0.000175454 0 0 CHST12 55501 broad.mit.edu 37 7 2472430 2472430 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:2472430C>T ENST00000258711.6 + 2 291 c.156C>T c.(154-156)ccC>ccT p.P52P NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 52 P -> H (in dbSNP:rs3735099). dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) TGCCCACGCCCGGGCCGGACA 0.642000 18 65 0 0 0.000175454 0 0 DLEC1 9940 broad.mit.edu 37 3 38141783 38141783 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:38141783C>T ENST00000308059.6 + 19 2752 c.2731C>T c.(2731-2733)Ccc>Tcc p.P911S DLEC1_ENST00000346219.3_Missense_Mutation_p.P911S|DLEC1_ENST00000452631.2_Missense_Mutation_p.P911S Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 911 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) GCAGGTGTCTCCCTTCGACAT 0.587000 12 126 0 0 0.000219431 0 0 ERCC6 2074 broad.mit.edu 37 10 50691522 50691522 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:50691522A>G ENST00000355832.5 - 9 1940 c.1862T>C c.(1861-1863)tTg>tCg p.L621S ERCC6_ENST00000542458.1_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 621 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGATGTGATCAAAATTCCATG 0.378000 Direct reversal of damage;Nucleotide excision repair (NER) 4 85 0 0 0.00024832 0 0 KCTD8 386617 broad.mit.edu 37 4 44177029 44177029 + Nonsense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:44177029C>T ENST00000360029.3 - 2 1483 c.1200G>A c.(1198-1200)tgG>tgA p.W400* NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 400 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 GTGGGGGTATCCATTGTACAG 0.498000 HNSCC(17;0.042) 39 180 0 0 0.000191422 0 0 AKR1D1 6718 broad.mit.edu 37 7 137792290 137792290 + Missense_Mutation SNP A A C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:137792290A>C ENST00000242375.3 + 7 861 c.819A>C c.(817-819)aaA>aaC p.K273N AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.K232N|AKR1D1_ENST00000432161.1_Missense_Mutation_p.K273N NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 273 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TCATTCCTAAAAGCTTTAATC 0.363000 24 76 0 0 9.22233e-05 0 0 POTEA 340441 broad.mit.edu 37 8 43211928 43211928 + RNA SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:43211928G>A ENST00000522175.2 + 0 1251 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAAAATCCAGGATGCAGTTAT 0.358000 10 68 0 0 0.000151284 0 0 APOB 338 broad.mit.edu 37 2 21233505 21233505 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:21233505C>T ENST00000233242.1 - 26 6362 c.6235G>A c.(6235-6237)Gaa>Aaa p.E2079K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2079 Heparin-binding. 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) TCAAAATATTCTTGCAAGGTC 0.343000 53 556 0 0 0.000147903 0 0 MYH15 22989 broad.mit.edu 37 3 108110754 108110754 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:108110754C>T ENST00000273353.3 - 38 5399 c.5343G>A c.(5341-5343)ctG>ctA p.L1781L NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1781 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCTTCTTCTTCAGTTCTTCTG 0.413000 15 125 0 0 9.7654e-05 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75378079 75378079 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:75378079A>G ENST00000555647.1 - 7 823 c.536T>C c.(535-537)cTa>cCa p.L179P RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.L148P|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.L179P|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.L179P Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 179 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) GCACCTGGGTAGGCTCTGGGA 0.627000 7 53 0 0 0.000274275 0 0 LRFN3 79414 broad.mit.edu 37 19 36435675 36435675 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:36435675C>T ENST00000588831.1 + 4 2695 c.1641C>T c.(1639-1641)atC>atT p.I547I LRFN3_ENST00000246529.3_Silent_p.I547I Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 547 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCGGCGTCATCGTAGCCTCGG 0.677000 6 25 0 0 8.12818e-05 0 0 TULP4 56995 broad.mit.edu 37 6 158923497 158923497 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:158923497C>T ENST00000367097.3 + 13 4159 c.2802C>T c.(2800-2802)gtC>gtT p.V934V TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 934 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) AGAAGAAGGTCCCTCAGCCCT 0.677000 9 51 0 0 2.17888e-05 0 0 SCNN1G 6340 broad.mit.edu 37 16 23200820 23200820 + Missense_Mutation SNP G G A rs140901058 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:23200820G>A ENST00000300061.2 + 3 589 c.446G>A c.(445-447)gGa>gAa p.G149E NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 149 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GTCTCAGAGGGAAAGCAGCCT 0.577000 23 153 0 0 9.22233e-05 0 0 GLIS1 148979 broad.mit.edu 37 1 53980410 53980410 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:53980410C>T ENST00000312233.2 - 7 1812 c.1246G>A c.(1246-1248)Ggc>Agc p.G416S NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 416 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 GGCAGGAGGCCCGATGCAAGT 0.612000 7 47 0 0 0.000157383 0 0 RGS7 6000 broad.mit.edu 37 1 241099926 241099926 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:241099926C>T ENST00000366565.1 - 5 688 c.307G>A c.(307-309)Gat>Aat p.D103N RGS7_ENST00000366562.4_Missense_Mutation_p.D103N|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000331110.7_Missense_Mutation_p.D77N|RGS7_ENST00000366564.1_Missense_Mutation_p.D103N|RGS7_ENST00000407727.1_Missense_Mutation_p.D103N|RGS7_ENST00000366563.1_Missense_Mutation_p.D103N|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Missense_Mutation_p.D19N NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 103 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTGCCATCATCCTTGAGTGTG 0.398000 26 142 0 0 0.000184323 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163237 32163237 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:32163237G>T ENST00000375023.3 - 30 6127 c.5989C>A c.(5989-5991)Caa>Aaa p.Q1997K GPSM3_ENST00000375043.3_5'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1997 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCTCCTCCTTGGTTTATGGGC 0.502000 9 265 6.40141e-05 0.00171676 6.40141e-05 1 0 ASXL3 80816 broad.mit.edu 37 18 31325110 31325110 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:31325110G>A ENST00000269197.5 + 12 5298 c.5298G>A c.(5296-5298)caG>caA p.Q1766Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1766 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 TGTTGCCACAGCCCAGATTGG 0.517000 9 37 0 0 0.000274275 0 0 ANK3 288 broad.mit.edu 37 10 61833963 61833963 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:61833963C>T ENST00000280772.1 - 37 6867 c.6676G>A c.(6676-6678)Gaa>Aaa p.E2226K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2226 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 TCATCTTCTTCACTACTGGCT 0.408000 14 113 0 0 0.000219431 0 0 NOVA1 4857 broad.mit.edu 37 14 26917851 26917851 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:26917851G>A ENST00000539517.2 - 5 1155 c.838C>T c.(838-840)Cca>Tca p.P280S NOVA1_ENST00000267422.7_Missense_Mutation_p.P158S|NOVA1_ENST00000465357.2_Missense_Mutation_p.P256S NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 283 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GCAGCAGTTGGTAACACTTCA 0.493000 6 75 0 0 8.12818e-05 0 0 PRDM2 7799 broad.mit.edu 37 1 14104971 14104971 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:14104971C>T ENST00000235372.7 + 8 1537 c.681C>T c.(679-681)ctC>ctT p.L227L PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.L227L|PRDM2_ENST00000413440.1_Silent_p.L26L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.L26L NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 227 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CGGCCACCCTCCAGGAGGTGG 0.582000 16 124 0 0 0.000308642 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566133 155566133 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:155566133G>A ENST00000295101.2 + 2 1198 c.721G>A c.(721-723)Ggt>Agt p.G241S KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 241 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GACACCTGAGGGTGAGTTCCT 0.443000 10 75 0 0 0.00010058 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692974 187692974 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:187692974C>T ENST00000295131.2 - 9 1678 c.1639G>A c.(1639-1641)Ggc>Agc p.G547S NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 547 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CATTTACAGCCTTTGGTCATC 0.393000 8 32 0 0 0.000157383 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142500670 142500670 + Missense_Mutation SNP T T G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:142500670T>G ENST00000378004.3 + 18 2011 c.1656T>G c.(1654-1656)ttT>ttG p.F552L ARHGAP26_ENST00000274498.4_Missense_Mutation_p.F552L NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 552 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACATCAAATTTCAGAACATTG 0.443000 18 91 0 0 5.01169e-05 0 0 FOXA3 3171 broad.mit.edu 37 19 46375598 46375598 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:46375598C>T ENST00000302177.2 + 2 532 c.335C>T c.(334-336)cCc>cTc p.P112L NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 112 RPL -> AP (in Ref. 1; AAA58477). brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TATCGGCGGCCCCTGGCACAC 0.647000 13 50 0 0 0.000308642 0 0 IGLV1-44 28823 broad.mit.edu 37 22 22735666 22735666 + RNA SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:22735666G>A ENST00000390297.2 + 0 417 TCCAGTCTGAGGATGAGGCTG 0.557000 7 72 0 0 0.00010058 0 0 OR4S1 256148 broad.mit.edu 37 11 48328317 48328317 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:48328317C>T ENST00000319988.1 + 1 543 c.543C>T c.(541-543)ccC>ccT p.P181P NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 ATGTTCATCCCCTGCTCAAGT 0.483000 14 55 0 0 0.000219431 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698517 103698517 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:103698517T>C ENST00000245312.3 - 6 1609 c.1013A>G c.(1012-1014)aAg>aGg p.K338R NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 338 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCCATTTGCCTTATAAAACGA 0.358000 12 102 0 0 0.000219431 0 0 FAT4 79633 broad.mit.edu 37 4 126371967 126371967 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:126371967C>T ENST00000394329.3 + 9 9809 c.9796C>T c.(9796-9798)Ctt>Ttt p.L3266F FAT4_ENST00000335110.5_Missense_Mutation_p.L1564F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3266 Cadherin 31. 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 GAGCTACCATCTTACTGTGAA 0.423000 8 47 0 0 0.000274275 0 0 TLR4 7099 broad.mit.edu 37 9 120476865 120476865 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:120476865C>T ENST00000355622.6 + 3 2560 c.2459C>T c.(2458-2460)tCa>tTa p.S820L TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S780L NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 820 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GATGGTAAATCATGGAATCCA 0.502000 11 86 0 0 0.000308642 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554096 140554096 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140554096C>T ENST00000231137.3 + 1 1854 c.1680C>T c.(1678-1680)ttC>ttT p.F560F NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 560 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCCCTTCGTGCTGTACC 0.726000 7 55 0 0 8.12818e-05 0 0 IGHA1 3493 broad.mit.edu 37 14 106173747 106173747 + RNA SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:106173747C>T ENST00000390547.2 - 0 819 AGGTACTTCTCGCGGGGCAGC 0.662000 7 49 0 0 0.000274275 0 0 KIAA1958 158405 broad.mit.edu 37 9 115336746 115336746 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:115336746C>T ENST00000337530.6 + 2 682 c.386C>T c.(385-387)tCt>tTt p.S129F KIAA1958_ENST00000374244.3_Missense_Mutation_p.S129F|KIAA1958_ENST00000536272.1_Missense_Mutation_p.S129F NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 129 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 AGTGAGCCCTCTGAACTGGAT 0.458000 11 63 0 0 0.00010058 0 0 PHLPP2 23035 broad.mit.edu 37 16 71697869 71697869 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:71697869G>A ENST00000568954.1 - 13 2296 c.1918C>T c.(1918-1920)Ctg>Ttg p.L640L PHLPP2_ENST00000356272.3_Silent_p.L640L|PHLPP2_ENST00000567016.1_Silent_p.L675L|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000360429.3_Silent_p.L640L|PHLPP2_ENST00000393524.2_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 640 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TGCCCTACCAGGACAGGTATG 0.468000 14 59 0 0 0.000422831 0 0 TBX2 6909 broad.mit.edu 37 17 59485543 59485543 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:59485543C>T ENST00000240328.3 + 7 2096 c.1815C>T c.(1813-1815)tcC>tcT p.S605S RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 605 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 ccgccgGCTCCCTCTCCCGGA 0.692000 5 12 0 0 0.000157383 0 0 LRP2 4036 broad.mit.edu 37 2 170009450 170009450 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:170009450C>T ENST00000263816.3 - 67 12605 c.12320G>A c.(12319-12321)gGg>gAg p.G4107E NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4107 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGAGCCCTCCCCTCGCACAGT 0.468000 34 126 0 0 0.000109025 0 0 RXFP2 122042 broad.mit.edu 37 13 32367120 32367120 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:32367120G>A ENST00000298386.2 + 16 1752 c.1681G>A c.(1681-1683)Gat>Aat p.D561N RXFP2_ENST00000380314.1_Missense_Mutation_p.D537N NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 561 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTGGAATAAGGATTATTTTGG 0.368000 9 56 0 0 2.17888e-05 0 0 WDR49 151790 broad.mit.edu 37 3 167246892 167246892 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:167246892C>T ENST00000308378.3 - 10 1603 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 433 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GGTAAGGTATCGATTCATCTT 0.343000 7 88 0 0 0.000274275 0 0 ATM 472 broad.mit.edu 37 11 108225536 108225536 + Splice_Site SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:108225536A>G ENST00000278616.4 + 61 9171 c.e61-1 ATM_ENST00000525178.1_Splice_Site|ATM_ENST00000452508.2_Splice_Site|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTTTGACTCTAGATGCTGTGA 0.338000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 11 163 0 0 0.00010058 0 0 PLXNA1 5361 broad.mit.edu 37 3 126737356 126737356 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:126737356C>T ENST00000251772.4 + 19 3880 c.3811C>T c.(3811-3813)Ctc>Ttc p.L1271F PLXNA1_ENST00000393409.2_Missense_Mutation_p.L1294F Q9UIW2 PLXA1_HUMAN plexin A1 1294 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CCGCGTGGCCCTCGAATGCAA 0.652000 6 9 0 0 3.59834e-05 0 0 ABCD2 225 broad.mit.edu 37 12 40012962 40012962 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:40012962C>T ENST00000308666.3 - 1 591 c.456G>A c.(454-456)atG>atA p.M152I NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 152 ABC transmembrane type-1.|Interaction with PEX19. 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 GGATGGCAATCATAAGCCACT 0.433000 9 79 0 0 2.17888e-05 0 0 SPEM1 374768 broad.mit.edu 37 17 7324290 7324290 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:7324290C>T ENST00000323675.3 + 3 321 c.296C>T c.(295-297)cCt>cTt p.P99L RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 99 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) ACCATGGACCCTGTGATGATG 0.592000 11 43 0 0 6.40141e-05 0 0 C1orf52 148423 broad.mit.edu 37 1 85724326 85724326 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:85724326G>A ENST00000471115.1 - 2 364 c.356C>T c.(355-357)cCt>cTt p.P119L C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.P119L NM_198077.3 NP_932343.1 Q8N6N3 CA052_HUMAN chromosome 1 open reading frame 52 119 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1) 10 all cancers(265;0.0105)|Epithelial(280;0.0293) AAGCTCTGGAGGCGGAGGCTT 0.438000 10 53 0 0 2.17888e-05 0 0 FGFR2 2263 broad.mit.edu 37 10 123239526 123239526 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:123239526C>T ENST00000358487.5 - 18 2583 c.2311G>A c.(2311-2313)Gac>Aac p.D771N FGFR2_ENST00000346997.2_Missense_Mutation_p.D769N|FGFR2_ENST00000369061.4_Missense_Mutation_p.D659N|FGFR2_ENST00000478859.1_Missense_Mutation_p.D543N|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.D772N|FGFR2_ENST00000369060.4_Missense_Mutation_p.D655N|FGFR2_ENST00000356226.4_Missense_Mutation_p.D654N|FGFR2_ENST00000369059.1_Missense_Mutation_p.D657N NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 771 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TGGCTGAGGTCCAAGTATTCC 0.448000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 14 109 0 0 0.000422831 0 0 SORCS3 22986 broad.mit.edu 37 10 107015523 107015523 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:107015523G>A ENST00000369701.3 + 24 3528 c.3301G>A c.(3301-3303)Gta>Ata p.V1101I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1101 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) GAAGCCGGGGGTACAAGTCAT 0.458000 6 32 0 0 0.000274275 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138453985 138453985 + Silent SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:138453985A>G ENST00000310018.2 - 4 411 c.129T>C c.(127-129)aaT>aaC p.N43N ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Silent_p.N43N|ATP6V0A4_ENST00000353492.4_Silent_p.N43N NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 43 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGCTGTTCACATTCATATTTA 0.328000 5 106 0 0 3.59834e-05 0 0 SBNO1 55206 broad.mit.edu 37 12 123810134 123810134 + Missense_Mutation SNP C C A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:123810134C>A ENST00000420886.2 - 14 1887 c.1888G>T c.(1888-1890)Ggt>Tgt p.G630C SBNO1_ENST00000267176.4_Missense_Mutation_p.G629C|SBNO1_ENST00000602750.1_Missense_Mutation_p.G629C|SBNO1_ENST00000602398.1_Missense_Mutation_p.G630C NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 630 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GACTGCAGACCAATTACAACA 0.343000 9 291 0.00010058 0.00268988 0.00010058 1 0 ZNFX1 57169 broad.mit.edu 37 20 47864578 47864578 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:47864578C>T ENST00000396105.1 - 14 5229 c.4983G>A c.(4981-4983)caG>caA p.Q1661Q ZNFX1_ENST00000371752.1_Silent_p.Q1661Q|ZNFX1_ENST00000371754.4_Intron NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1661 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TAAGCCGTTCCTGGCTGGTTG 0.493000 19 92 0 0 7.07596e-05 0 0 FAM160A2 84067 broad.mit.edu 37 11 6235700 6235700 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:6235700T>C ENST00000265978.4 - 11 2898 c.2540A>G c.(2539-2541)aAg>aGg p.K847R FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.K833R NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 833 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCAGTCCAACTTGCCACGGGC 0.592000 13 113 0 0 0.000151284 0 0 SLC2A10 81031 broad.mit.edu 37 20 45355517 45355517 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:45355517C>T ENST00000359271.2 + 3 1553 c.1303C>T c.(1303-1305)Ctc>Ttc p.L435F NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 435 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CTGGCTTGTCCTCAGCGAGAT 0.592000 10 130 0 0 6.40141e-05 0 0 LRFN5 145581 broad.mit.edu 37 14 42357007 42357007 + Silent SNP T T A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:42357007T>A ENST00000554171.1 + 5 3611 c.1179T>A c.(1177-1179)ggT>ggA p.G393G LRFN5_ENST00000298119.4_Silent_p.G393G|LRFN5_ENST00000554120.1_Silent_p.G393G Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 393 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGATCCTGGTTCTTCAGATA 0.388000 HNSCC(30;0.082) 20 69 0 0 0.000229342 0 0 BCAT1 586 broad.mit.edu 37 12 25031517 25031517 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:25031517G>A ENST00000261192.7 - 5 983 c.457C>T c.(457-459)Cca>Tca p.P153S BCAT1_ENST00000539780.1_Missense_Mutation_p.P116S|BCAT1_ENST00000342945.5_Missense_Mutation_p.P92S|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.P165S|BCAT1_ENST00000538118.1_Missense_Mutation_p.P152S NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 153 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) GTTGAATATGGGACCCATTCT 0.363000 6 60 0 0 0.000274275 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52896717 52896717 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:52896717G>A ENST00000371544.3 - 28 4938 c.4676C>T c.(4675-4677)tCc>tTc p.S1559F ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S1560F NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1559 Pro-rich. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GTTTACCAGGGAATTTGGAGC 0.463000 30 115 0 0 0.000409698 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172439 207172439 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:207172439G>A ENST00000374423.3 + 5 3573 c.3187G>A c.(3187-3189)Gaa>Aaa p.E1063K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1063 nucleic acid binding|zinc ion binding p.E1063*(2)|p.E1063K(1) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTTTTTGAAGGAAAAACATGT 0.323000 14 75 0 0 5.01169e-05 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290877 141290877 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:141290877G>A ENST00000247452.3 - 3 1244 c.897C>T c.(895-897)ttC>ttT p.F299F NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 299 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GACCCCACAGGAATTCATAAT 0.488000 HNSCC(46;0.14) 7 39 0 0 0.000274275 0 0 DNAH11 8701 broad.mit.edu 37 7 21745129 21745129 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:21745129G>A ENST00000328843.6 + 40 6572 c.6541G>A c.(6541-6543)Gga>Aga p.G2181R DNAH11_ENST00000409508.3_Missense_Mutation_p.G2174R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2181 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTTTGTAGTTGGAAATGCAGG 0.448000 Kartagener syndrome 9 58 0 0 3.86212e-05 0 0 NUP93 9688 broad.mit.edu 37 16 56867143 56867143 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:56867143G>A ENST00000564887.1 + 11 1622 c.993G>A c.(991-993)acG>acA p.T331T NUP93_ENST00000542526.1_Silent_p.T331T|NUP93_ENST00000308159.5_Silent_p.T454T|NUP93_ENST00000569842.1_Silent_p.T454T NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 454 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CCCACTTTACGGTGAACCAGC 0.572000 6 117 0 0 0.000274275 0 0 MAST1 22983 broad.mit.edu 37 19 12962960 12962960 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:12962960T>C ENST00000251472.4 + 9 947 c.908T>C c.(907-909)cTg>cCg p.L303P MAST1_ENST00000591495.1_Missense_Mutation_p.L299P NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 303 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TACCACCTGCTGGAGGCGGCC 0.642000 9 52 0 0 2.17888e-05 0 0 TRIM22 10346 broad.mit.edu 37 11 5730298 5730298 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:5730298A>G ENST00000379965.3 + 8 1194 c.917A>G c.(916-918)aAt>aGt p.N306S TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 306 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GTGATGCTGAATCCAGGCAGT 0.393000 14 66 0 0 0.000219431 0 0 PCDHA10 56139 broad.mit.edu 37 5 140235762 140235762 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140235762C>T ENST00000307360.5 + 1 129 c.129C>T c.(127-129)ttC>ttT p.F43F PCDHA10_ENST00000506939.2_Silent_p.F43F|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGCA 0.657000 8 78 0 0 0.000274275 0 0 CDC25C 995 broad.mit.edu 37 5 137621477 137621477 + Silent SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:137621477A>G ENST00000323760.6 - 14 1604 c.1326T>C c.(1324-1326)acT>acC p.T442T CDC25C_ENST00000415130.2_Silent_p.T369T|CDC25C_ENST00000357274.3_Silent_p.T399T|CDC25C_ENST00000348983.3_Silent_p.T369T|CDC25C_ENST00000513970.1_Silent_p.T442T|CDC25C_ENST00000514555.1_Silent_p.T412T|CDC25C_ENST00000356505.3_Silent_p.T412T NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 442 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCAGCAACTCAGTCTTGTGGT 0.527000 6 99 0 0 8.12818e-05 0 0 DENND2A 27147 broad.mit.edu 37 7 140301361 140301361 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:140301361C>T ENST00000275884.6 - 2 1254 c.837G>A c.(835-837)ggG>ggA p.G279G DENND2A_ENST00000537639.1_Silent_p.G279G|DENND2A_ENST00000492720.1_Silent_p.G279G|DENND2A_ENST00000496613.1_Silent_p.G279G Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 279 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) CATCTTTGTCCCCTTCTCCGG 0.582000 42 135 0 0 0.000147903 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994464 45994464 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr21:45994464A>G ENST00000400374.3 + 1 859 c.829A>G c.(829-831)Aag>Gag p.K277E TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 277 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 TGTCTGCTGCAAGCCTGTGTG 0.622000 9 82 0 0 0.000308642 0 0 FAM71C 196472 broad.mit.edu 37 12 100042415 100042415 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:100042415C>T ENST00000324341.1 + 1 885 c.463C>T c.(463-465)Cca>Tca p.P155S ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 155 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) GCTGTGTCCTCCATCGGATGC 0.473000 6 50 0 0 8.12818e-05 0 0 SHISA5 51246 broad.mit.edu 37 3 48510878 48510878 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:48510878C>T ENST00000296444.2 - 5 861 c.525G>A c.(523-525)caG>caA p.Q175Q SHISA5_ENST00000443308.2_Silent_p.Q168Q|SHISA5_ENST00000444115.1_Silent_p.Q144Q|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000442747.1_Silent_p.Q144Q|SHISA5_ENST00000426002.1_Silent_p.Q72Q NM_001272065.1|NM_016479.3 NP_001258994.1|NP_057563.3 Q8N114 SHSA5_HUMAN shisa family member 5 175 Pro-rich. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding large_intestine(1)|lung(1) 2 TGTGGTAGCCCTGGTAGCTTG 0.637000 8 66 0 0 0.000157383 0 0 HCLS1 3059 broad.mit.edu 37 3 121366201 121366201 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:121366201C>T ENST00000314583.3 - 4 344 c.253G>A c.(253-255)Ggt>Agt p.G85S HCLS1_ENST00000428394.2_Missense_Mutation_p.G85S NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 85 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCAAACCGACCTCCATAGCCA 0.483000 14 158 0 0 7.07596e-05 0 0 JAG1 182 broad.mit.edu 37 20 10639139 10639139 + Nonsense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:10639139C>T ENST00000254958.5 - 4 1186 c.671G>A c.(670-672)tGg>tAg p.W224* JAG1_ENST00000423891.2_Nonsense_Mutation_p.W65* NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 224 DSL. W -> C (in ALGS1). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GGGGCCCATCCAGCCTTCCAT 0.507000 Alagille Syndrome 13 84 0 0 0.000219431 0 0 GRB14 2888 broad.mit.edu 37 2 165378510 165378510 + Missense_Mutation SNP A A C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:165378510A>C ENST00000263915.3 - 6 1334 c.796T>G c.(796-798)Tct>Gct p.S266A GRB14_ENST00000543549.1_Missense_Mutation_p.S179A NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 266 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CCTTTAGTAGAAAAATATAAA 0.299000 16 126 0 0 9.7654e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 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 12 57 0 0 0.000308642 0 0 DMWD 1762 broad.mit.edu 37 19 46289702 46289702 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:46289702G>A ENST00000270223.6 - 3 1097 c.1052C>T c.(1051-1053)aCc>aTc p.T351I DMWD_ENST00000377735.3_Missense_Mutation_p.T351I NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 351 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GGACCACACGGTGACCAGGTC 0.642000 10 65 0 0 0.00010058 0 0 TTN 7273 broad.mit.edu 37 2 179437307 179437307 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:179437307C>T ENST00000589042.1 - 326 73776 c.73552G>A c.(73552-73554)Gat>Aat p.D24518N TTN_ENST00000342175.6_Missense_Mutation_p.D15645N|TTN_ENST00000359218.5_Missense_Mutation_p.D15578N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D22877N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D21950N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15453N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22877 Fibronectin type-III 78. 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) CCTGGTGTATCGAGAACTCTA 0.418000 12 73 0 0 6.40141e-05 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208960 140208960 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140208960G>A ENST00000529310.1 + 1 1398 c.1284G>A c.(1282-1284)cgG>cgA p.R428R PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.R428R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACCGCGCGGGACGGGGGCT 0.622000 9 146 0 0 2.17888e-05 0 0 NCAPD3 23310 broad.mit.edu 37 11 134076553 134076553 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:134076553G>A ENST00000534548.2 - 8 1021 c.957C>T c.(955-957)gcC>gcT p.A319A NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 319 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CAGCAAGGGGGGCACGATGGG 0.423000 18 81 0 0 7.07596e-05 0 0 NLGN2 57555 broad.mit.edu 37 17 7319161 7319161 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:7319161G>A ENST00000302926.2 + 6 1442 c.1369G>A c.(1369-1371)Gac>Aac p.D457N NLGN2_ENST00000575301.1_Missense_Mutation_p.D457N NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 457 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GCTCTTTACTGACCACCAATG 0.577000 10 35 0 0 3.86212e-05 0 0 NUP93 9688 broad.mit.edu 37 16 56867144 56867144 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:56867144G>A ENST00000564887.1 + 11 1623 c.994G>A c.(994-996)Gtg>Atg p.V332M NUP93_ENST00000542526.1_Missense_Mutation_p.V332M|NUP93_ENST00000308159.5_Missense_Mutation_p.V455M|NUP93_ENST00000569842.1_Missense_Mutation_p.V455M NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 455 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CCACTTTACGGTGAACCAGCA 0.567000 6 118 0 0 0.000274275 0 0 PKD1 5310 broad.mit.edu 37 16 2153649 2153649 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:2153649G>A ENST00000262304.4 - 23 8617 c.8409C>T c.(8407-8409)ggC>ggT p.G2803G PKD1_ENST00000561991.1_Intron|PKD1_ENST00000423118.1_Silent_p.G2803G NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2803 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 AGAAGTGGCAGCCAGGCCCTG 0.672000 8 53 0 0 0.000274275 0 0 TBXAS1 6916 broad.mit.edu 37 7 139657492 139657492 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:139657492G>A ENST00000263552.6 + 12 1289 c.751G>A c.(751-753)Gaa>Aaa p.E251K TBXAS1_ENST00000411653.1_Missense_Mutation_p.E250K|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E296K|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E250K|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E250K|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E251K|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E297K|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E183K|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E251K|TBXAS1_ENST00000462275.1_3'UTR NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 250 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GAACCGAGACGAACTGAATGG 0.438000 17 66 0 0 9.7654e-05 0 0 C1orf172 126695 broad.mit.edu 37 1 27278365 27278365 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:27278365G>A ENST00000320567.5 - 2 595 c.507C>T c.(505-507)atC>atT p.I169I NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 169 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GATACACAGGGATGCCTTTGA 0.657000 6 51 0 0 8.12818e-05 0 0 IDO1 3620 broad.mit.edu 37 8 39775637 39775637 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:39775637G>A ENST00000518237.1 + 3 853 c.214G>A c.(214-216)Gac>Aac p.D72N RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.D72N NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 72 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TCATCTCACAGACCACAAGTC 0.423000 22 103 0 0 5.49717e-05 0 0 NEBL 10529 broad.mit.edu 37 10 21124516 21124516 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:21124516C>T ENST00000377122.4 - 14 1771 c.1375G>A c.(1375-1377)Ggg>Agg p.G459R NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 459 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATTCCTTTCCCTTTAATTATT 0.448000 19 197 0 0 0.000175454 0 0 ANTXR1 84168 broad.mit.edu 37 2 69271912 69271912 + Missense_Mutation SNP G G A rs141240644 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:69271912G>A ENST00000303714.4 + 3 585 c.263G>A c.(262-264)cGa>cAa p.R88Q ANTXR1_ENST00000409349.3_Missense_Mutation_p.R88Q|ANTXR1_ENST00000409829.3_Missense_Mutation_p.R88Q NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 88 VWFA. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TTCTCCACCCGAGGAACAACC 0.433000 Familial Infantile Hemangioma 8 74 0 0 0.000274275 0 0 HHLA3 11147 broad.mit.edu 37 1 70832184 70832184 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:70832184T>C ENST00000370940.5 + 2 334 c.218T>C c.(217-219)cTt>cCt p.L73P HHLA3_ENST00000531950.1_Silent_p.S105S|HHLA3_ENST00000359875.5_Silent_p.S105S|HHLA3_ENST00000361764.4_Silent_p.L72L|HHLA3_ENST00000432224.1_Missense_Mutation_p.L106P NM_001031693.2|NM_001036646.1 NP_001026863.1|NP_001031723.1 Q9XRX5 HHLA3_HUMAN HERV-H LTR-associating 3 0 protein binding large_intestine(3)|lung(1) 4 cttggatctcttgcaagaaag 0.383000 3 12 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179455439 179455439 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:179455439C>T ENST00000589042.1 - 304 61237 c.61013G>A c.(61012-61014)gGa>gAa p.G20338E TTN_ENST00000342175.6_Missense_Mutation_p.G11465E|TTN_ENST00000359218.5_Missense_Mutation_p.G11398E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18697E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17770E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11273E|TTN-AS1_ENST00000590743.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18697 Fibronectin type-III 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATATGTATTTCCTTCATAGAG 0.438000 20 111 0 0 9.7654e-05 0 0 TTLL7 79739 broad.mit.edu 37 1 84408284 84408284 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:84408284G>A ENST00000260505.8 - 7 962 c.585C>T c.(583-585)ttC>ttT p.F195F TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 195 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CTTCCATTAGGAAAGGCTTTT 0.328000 8 55 0 0 0.000274275 0 0 DOT1L 84444 broad.mit.edu 37 19 2216468 2216468 + Missense_Mutation SNP G G C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:2216468G>C ENST00000398665.3 + 20 2148 c.2112G>C c.(2110-2112)ttG>ttC p.L704F NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 704 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) TGCCTCACTTGAGCAGCATGA 0.667000 4 73 0 0 1.23904e-05 0 0 ACOT12 134526 broad.mit.edu 37 5 80638515 80638515 + Nonsense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:80638515C>T ENST00000307624.3 - 11 1132 c.1104G>A c.(1102-1104)tgG>tgA p.W368* ACOT12_ENST00000508234.1_Intron NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 368 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TGGTAACCTCCCAACCCCTTT 0.448000 14 122 0 0 0.000422831 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19418703 19418703 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:19418703C>T ENST00000538714.1 + 8 634 c.630C>T c.(628-630)atC>atT p.I210I PLEKHA5_ENST00000299275.6_Silent_p.I210I|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000309364.4_Silent_p.I210I|PLEKHA5_ENST00000355397.3_Silent_p.I210I|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Silent_p.I102I|PLEKHA5_ENST00000359180.3_Silent_p.I210I|PLEKHA5_ENST00000424268.1_Silent_p.I102I|PLEKHA5_ENST00000317589.4_Silent_p.I210I|PLEKHA5_ENST00000429027.2_Silent_p.I210I NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 210 PH. 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AAGAGGGTATCCTGGGAAGCA 0.318000 26 168 0 0 0.000339439 0 0 STAG2 10735 broad.mit.edu 37 X 123200028 123200028 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:123200028C>T ENST00000371160.1 + 22 2390 c.2100C>T c.(2098-2100)gcC>gcT p.A700A STAG2_ENST00000371144.3_Silent_p.A700A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Silent_p.A631A|STAG2_ENST00000371157.3_Silent_p.A700A|STAG2_ENST00000218089.9_Silent_p.A700A|STAG2_ENST00000371145.3_Silent_p.A700A Q8N3U4 STAG2_HUMAN stromal antigen 2 700 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 tttACAGTGCCCATGACCTTT 0.299000 12 45 0 0 6.40141e-05 0 0 CCK 885 broad.mit.edu 37 3 42299711 42299711 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:42299711C>T ENST00000396169.2 - 5 1132 c.227G>A c.(226-228)cGa>cAa p.R76Q CCK_ENST00000334681.5_Missense_Mutation_p.R76Q|CCK_ENST00000434608.1_Missense_Mutation_p.R76Q NM_000729.4 NP_000720.1 P06307 CCKN_HUMAN cholecystokinin 76 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity p.R76Q(1) central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) GATGGACATTCGTCCAGAAGG 0.517000 6 63 0 0 8.12818e-05 0 0 PDE1A 5136 broad.mit.edu 37 2 183066494 183066494 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:183066494C>T ENST00000435564.1 - 9 1173 c.973G>A c.(973-975)Gaa>Aaa p.E325K PDE1A_ENST00000351439.5_Missense_Mutation_p.E309K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E291K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E221K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E325K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E325K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E325K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E309K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E325K NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 325 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) AAAACCATTTCAATCACTAGG 0.373000 5 50 0 0 1.23904e-05 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670038 44670038 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:44670038G>A ENST00000454036.1 + 8 1070 c.994G>A c.(994-996)Gga>Aga p.G332R SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G309R NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 332 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCTTGGGAAGGAAATGAGAC 0.552000 13 58 0 0 0.000219431 0 0 SMAD5 4090 broad.mit.edu 37 5 135489586 135489586 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:135489586A>G ENST00000545279.1 + 3 497 c.137A>G c.(136-138)aAg>aGg p.K46R SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.K46R NM_001001419.1|NM_005903.5 NP_001001419.1|NP_005894.3 Q99717 SMAD5_HUMAN SMAD family member 5 46 MH1.|Poly-Lys. BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding central_nervous_system(1)|large_intestine(4)|lung(3) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAAAAGAAAAAGGGTGCCATG 0.473000 4 79 0 0 0.00024832 0 0 XKR9 389668 broad.mit.edu 37 8 71619239 71619239 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:71619239A>G ENST00000408926.3 + 4 878 c.344A>G c.(343-345)gAa>gGa p.E115G XKR9_ENST00000520030.1_Missense_Mutation_p.E115G|XKR9_ENST00000520273.1_3'UTR NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 115 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) AACTTCGTGGAAGAACAAATT 0.353000 9 48 0 0 2.17888e-05 0 0 COL19A1 1310 broad.mit.edu 37 6 70851968 70851968 + Splice_Site SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:70851968G>T ENST00000322773.4 + 22 1674 c.1572_splice c.e22+1 p.K524_splice COL19A1_ENST00000393344.1_Splice_Site_p.K146_splice NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 524 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CAGGACTAAAGGTATATAAGA 0.398000 7 28 1.76689e-08 4.8193e-07 2.17888e-05 1 0 LRWD1 222229 broad.mit.edu 37 7 102109094 102109094 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:102109094C>T ENST00000292616.5 + 8 1165 c.1013C>T c.(1012-1014)cCc>cTc p.P338L NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 338 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 TACAAGGCACCCGGCGAGGTG 0.662000 3 5 0 0 0.00024832 0 0 SEMG1 6406 broad.mit.edu 37 20 43836284 43836284 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:43836284C>T ENST00000372781.3 + 2 403 c.346C>T c.(346-348)Cat>Tat p.H116Y SEMG1_ENST00000244069.6_Missense_Mutation_p.H116Y NM_003007.3 NP_002998.1 semenogelin I p.H116Y(1) 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) AGGCAGAGACCATGATAAATC 0.403000 11 47 0 0 6.40141e-05 0 0 PDE6G 5148 broad.mit.edu 37 17 79618115 79618115 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:79618115C>T ENST00000573076.1 - 4 878 c.403G>A c.(403-405)Ggc>Agc p.G135S PDE6G_ENST00000331056.5_Missense_Mutation_p.G85S|PDE6G_ENST00000571224.1_Missense_Mutation_p.G85S|PDE6G_ENST00000571004.1_Missense_Mutation_p.G85S|PDE6G_ENST00000574777.1_5'UTR P18545 CNRG_HUMAN phosphodiesterase 6G, cGMP-specific, rod, gamma 85 platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TAGATGATGCCATATTGGGCC 0.592000 6 73 0 0 3.59834e-05 0 0 FAM171A1 221061 broad.mit.edu 37 10 15262951 15262951 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:15262951G>A ENST00000378116.4 - 6 869 c.863C>T c.(862-864)cCc>cTc p.P288L FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 288 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 ACCTGGGATGGGAGGGGACAT 0.552000 13 128 0 0 0.000422831 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44486602 44486602 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:44486602C>T ENST00000255152.2 + 1 347 c.138C>T c.(136-138)tcC>tcT p.S46S ZSWIM3_ENST00000454862.2_5'UTR NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 46 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) ATGGCACCTCCATCCGCGAAG 0.647000 9 60 0 0 0.000274275 0 0 VIP 7432 broad.mit.edu 37 6 153076434 153076434 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:153076434C>T ENST00000367244.3 + 4 433 c.261C>T c.(259-261)acC>acT p.T87T VIP_ENST00000367243.3_Silent_p.T87T NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 87 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity p.T87T(1) haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) GAGTTTTCACCAGTGACTTCA 0.318000 9 66 0 0 3.86212e-05 0 0 ADAM22 53616 broad.mit.edu 37 7 87759752 87759752 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:87759752C>T ENST00000398204.4 + 10 1126 c.803C>T c.(802-804)tCt>tTt p.S268F ADAM22_ENST00000265727.7_Missense_Mutation_p.S268F|ADAM22_ENST00000398209.3_Missense_Mutation_p.S268F|ADAM22_ENST00000398201.4_Missense_Mutation_p.S268F|ADAM22_ENST00000315984.7_Missense_Mutation_p.S268F|ADAM22_ENST00000439864.1_Missense_Mutation_p.S268F NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 268 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TATGCGAAATCTGTGGTGAAC 0.348000 5 99 0 0 3.59834e-05 0 0 VANGL2 57216 broad.mit.edu 37 1 160389198 160389198 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:160389198A>G ENST00000368061.2 + 4 1073 c.599A>G c.(598-600)tAt>tGt p.Y200C NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 200 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGCTCTTCTATGGTGTGCGC 0.632000 26 105 0 0 0.000227799 0 0 CHRNA6 8973 broad.mit.edu 37 8 42611523 42611523 + Silent SNP C C T rs140821226 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:42611523C>T ENST00000276410.2 - 5 1174 c.819G>A c.(817-819)acG>acA p.T273T CHRNA6_ENST00000534622.1_Silent_p.T258T NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 273 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAATACAAAGCGTCACTTTTT 0.443000 7 44 0 0 0.000274275 0 0 USP24 23358 broad.mit.edu 37 1 55591072 55591072 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:55591072G>A ENST00000294383.6 - 34 3880 c.3881C>T c.(3880-3882)tCc>tTc p.S1294F USP24_ENST00000407756.1_Missense_Mutation_p.S1134F NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1294 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTGTCGGTAGGATGACTTTTC 0.458000 14 90 0 0 9.7654e-05 0 0 CASC3 22794 broad.mit.edu 37 17 38325581 38325581 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:38325581C>T ENST00000264645.7 + 12 2196 c.1970C>T c.(1969-1971)cCa>cTa p.P657L NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 657 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 TCCCAGGCCCCATCACAGGTA 0.527000 29 127 0 0 0.000339439 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176125 140176125 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140176125G>A ENST00000526136.1 + 1 1576 c.1576G>A c.(1576-1578)Gag>Aag p.E526K PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E526K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E526K NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACCACGAGGAAGTGGA 0.687000 6 97 0 0 8.12818e-05 0 0 ITGAE 3682 broad.mit.edu 37 17 3638140 3638140 + Missense_Mutation SNP T T C rs34281241 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:3638140T>C ENST00000263087.4 - 21 2724 c.2626A>G c.(2626-2628)Aga>Gga p.R876G ITGAE_ENST00000571185.1_5'UTR NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 876 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TGCAGGTTTCTGGGGTAATTC 0.532000 28 143 0 0 0.000279167 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62850750 62850750 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:62850750G>A ENST00000584306.1 - 14 5402 c.4872C>T c.(4870-4872)gcC>gcT p.A1624A LRRC37A3_ENST00000339474.5_Silent_p.A742A|LRRC37A3_ENST00000334962.5_Silent_p.A601A|LRRC37A3_ENST00000319651.5_Silent_p.A1624A|LRRC37A3_ENST00000400877.3_Silent_p.A662A NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1624 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CCTCCGTTGGGGCTTCGCTGT 0.488000 7 132 0 0 2.17888e-05 0 0 PRDM9 56979 broad.mit.edu 37 5 23509604 23509604 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:23509604C>T ENST00000296682.3 + 3 277 c.95C>T c.(94-96)tCc>tTc p.S32F NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 32 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAAGACATTTCCATATACTTC 0.413000 HNSCC(3;0.000094) 28 170 0 0 8.91981e-05 0 0 CARD11 84433 broad.mit.edu 37 7 2963915 2963915 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:2963915T>C ENST00000396946.4 - 15 2295 c.1892A>G c.(1891-1893)tAc>tGc p.Y631C NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 631 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCCAGGTCGTAGGCATCCAG 0.592000 Mis DLBCL 4 39 0 0 0.00024832 0 0 RNF148 378925 broad.mit.edu 37 7 122342240 122342240 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:122342240G>T ENST00000434824.1 - 1 781 c.565C>A c.(565-567)Cat>Aat p.H189N CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 189 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 ATGATGTAATGGCTCACCCAC 0.438000 7 228 0.000157383 0.00417414 0.000157383 1 0 SYT4 6860 broad.mit.edu 37 18 40853859 40853859 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:40853859C>T ENST00000255224.3 - 2 903 c.535G>A c.(535-537)Ggc>Agc p.G179S SYT4_ENST00000590752.1_Missense_Mutation_p.G161S|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 179 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GCTGGCAAGCCACGGGCTTCC 0.443000 6 70 0 0 3.59834e-05 0 0 PAPOLA 10914 broad.mit.edu 37 14 97009114 97009114 + Silent SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:97009114G>T ENST00000216277.8 + 14 1393 c.1173G>T c.(1171-1173)gtG>gtT p.V391V PAPOLA_ENST00000392990.2_Silent_p.V391V NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 391 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TGTTCAGGGTGGGCTTGGTGG 0.378000 7 141 0.000274275 0.00719485 0.000274275 1 0 ZC3H3 23144 broad.mit.edu 37 8 144620568 144620568 + Silent SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:144620568A>G ENST00000262577.5 - 2 1000 c.969T>C c.(967-969)gtT>gtC p.V323V NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 323 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCCTCCGAGCAACCCGGGGAC 0.597000 8 134 0 0 2.17888e-05 0 0 ZNF611 81856 broad.mit.edu 37 19 53208989 53208989 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:53208989G>A ENST00000543227.1 - 6 1593 c.1319C>T c.(1318-1320)tCc>tTc p.S440F ZNF611_ENST00000453741.2_Missense_Mutation_p.S371F|ZNF611_ENST00000602162.1_Missense_Mutation_p.S371F|ZNF611_ENST00000595798.1_Missense_Mutation_p.S371F|ZNF611_ENST00000319783.1_Missense_Mutation_p.S440F|ZNF611_ENST00000540744.1_Missense_Mutation_p.S440F NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GCATACAAGGGATGACTTGTG 0.403000 10 157 0 0 3.86212e-05 0 0 POSTN 10631 broad.mit.edu 37 13 38153415 38153415 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:38153415A>G ENST00000379747.4 - 13 1859 c.1742T>C c.(1741-1743)gTt>gCt p.V581A POSTN_ENST00000379743.4_Missense_Mutation_p.V581A|POSTN_ENST00000379749.4_Missense_Mutation_p.V581A|POSTN_ENST00000541179.1_Missense_Mutation_p.V581A|POSTN_ENST00000541481.1_Missense_Mutation_p.V581A|POSTN_ENST00000379742.4_Missense_Mutation_p.V581A NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 581 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AATGTTAGTAACACCAGGTTC 0.333000 8 93 0 0 0.000274275 0 0 CPEB1 64506 broad.mit.edu 37 15 83221280 83221280 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:83221280G>A ENST00000563800.1 - 8 2956 c.1231C>T c.(1231-1233)Ctg>Ttg p.L411L CPEB1_ENST00000450751.2_Silent_p.L309L|CPEB1_ENST00000398591.2_Silent_p.L314L|CPEB1_ENST00000423133.2_Silent_p.L309L|CPEB1_ENST00000564522.1_Silent_p.L309L|CPEB1_ENST00000261723.6_Silent_p.L387L|CPEB1_ENST00000568128.1_Silent_p.L384L|CPEB1_ENST00000398592.2_Silent_p.L158L|RP11-152F13.10_ENST00000562833.1_Silent_p.A118A|CPEB1_ENST00000568757.1_Silent_p.L309L|CPEB1_ENST00000562019.1_Silent_p.L389L|RP11-379H8.1_ENST00000568285.1_Intron Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 389 Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) TATTCACTCAGGCCATCTGGG 0.498000 19 61 0 0 9.7654e-05 0 0 ATP5SL 55101 broad.mit.edu 37 19 41942339 41942339 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:41942339C>T ENST00000221943.9 - 3 259 c.254G>A c.(253-255)gGc>gAc p.G85D ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G85D|ATP5SL_ENST00000301183.11_Missense_Mutation_p.G91D|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G91D|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000597457.1_Intron NM_018035.2 NP_060505.2 Q9NW81 AT5SL_HUMAN ATP5S-like 85 breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 11 GGCACCTGCGCCGTATGGACC 0.567000 17 84 0 0 0.000229342 0 0 PRMT2 3275 broad.mit.edu 37 21 48064250 48064250 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr21:48064250C>T ENST00000397637.1 + 4 1131 c.177C>T c.(175-177)atC>atT p.I59I PRMT2_ENST00000440086.1_Silent_p.I59I|PRMT2_ENST00000334494.4_Silent_p.I59I|PRMT2_ENST00000451211.2_Silent_p.I59I|PRMT2_ENST00000291705.6_Silent_p.I59I|PRMT2_ENST00000355680.3_Silent_p.I59I|PRMT2_ENST00000397638.2_Silent_p.I59I|PRMT2_ENST00000397628.1_Silent_p.I59I|PRMT2_ENST00000458387.2_Silent_p.I59I P55345 ANM2_HUMAN protein arginine methyltransferase 2 59 SH3. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) AAATTCTTATCCTGAGACAAA 0.443000 12 45 0 0 0.000219431 0 0 SCN10A 6336 broad.mit.edu 37 3 38805058 38805058 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:38805058C>T ENST00000449082.2 - 5 628 c.629G>A c.(628-630)gGg>gAg p.G210E NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 210 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) GCCTGAGATCCCACGGAGATC 0.453000 5 85 0 0 1.23904e-05 0 0 PKD1L2 114780 broad.mit.edu 37 16 81232478 81232478 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:81232478G>A ENST00000599697.1 - 7 1331 c.1332C>T c.(1330-1332)gtC>gtT p.V444V PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 444 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCACCAAGTGGACTGTAATGT 0.562000 9 130 0 0 6.40141e-05 0 0 ATP5SL 55101 broad.mit.edu 37 19 41942340 41942340 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:41942340C>T ENST00000221943.9 - 3 258 c.253G>A c.(253-255)Ggc>Agc p.G85S ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000589970.1_Missense_Mutation_p.G85S|ATP5SL_ENST00000301183.11_Missense_Mutation_p.G91S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.G91S|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000597457.1_Intron NM_018035.2 NP_060505.2 Q9NW81 AT5SL_HUMAN ATP5S-like 85 breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 11 GCACCTGCGCCGTATGGACCA 0.567000 16 83 0 0 0.000175454 0 0 ALG5 29880 broad.mit.edu 37 13 37539795 37539795 + Silent SNP T T A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:37539795T>A ENST00000239891.3 - 8 756 c.690A>T c.(688-690)ggA>ggT p.G230G ALG5_ENST00000443765.1_Silent_p.G200G|ALG5_ENST00000413537.2_3'UTR NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 230 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) TGTCCCTGATTCCTTTGACAC 0.413000 7 67 0 0 8.12818e-05 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148930447 148930447 + Silent SNP G G A rs112881076 by1000genomes TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:148930447G>A ENST00000261798.5 - 1 513 c.81C>T c.(79-81)tcC>tcT p.S27S CSNK1A1_ENST00000377843.2_Silent_p.S27S|CSNK1A1_ENST00000515768.1_Silent_p.S27S|CSNK1A1_ENST00000515748.2_Silent_p.S27S NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 27 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) TGTCCCCGAAGGAGCCAGACC 0.532000 13 56 0 0 0.000219431 0 0 LOC644669 644669 broad.mit.edu 37 18 15316727 15316727 + RNA SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:15316727G>A ENST00000455308.2 - 0 696 NR_027417.1 TTTCTGCCAAGGGTGCAGCCT 0.418000 4 17 0 0 3.59834e-05 0 0 GIPC1 10755 broad.mit.edu 37 19 14591193 14591193 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:14591193C>T ENST00000393033.4 - 6 848 c.579G>A c.(577-579)gaG>gaA p.E193E GIPC1_ENST00000393029.3_Silent_p.E96E|GIPC1_ENST00000345425.2_Silent_p.E193E|GIPC1_ENST00000586027.1_Silent_p.E193E|GIPC1_ENST00000393028.1_Silent_p.E96E|GIPC1_ENST00000591349.1_Silent_p.E96E NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 193 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GCCGGGCCACCTCGTAGTGCC 0.662000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 73 0 0 0.000274275 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16810768 16810768 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:16810768C>T ENST00000355661.3 - 23 3242 c.3232G>A c.(3232-3234)Gag>Aag p.E1078K PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E1078K|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E1079K|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_3'UTR Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 1078 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TTCATGCGCTCCAGCTGCTCC 0.627000 9 114 0 0 2.17888e-05 0 0 VPRBP 9730 broad.mit.edu 37 3 51475831 51475831 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:51475831C>T ENST00000335891.5 - 6 605 c.596G>A c.(595-597)cGg>cAg p.R199Q Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 199 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) AGAGAGCTTCCGTGGACTGGG 0.507000 20 157 0 0 0.000295444 0 0 SLC2A3 6515 broad.mit.edu 37 12 8074019 8074019 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:8074019G>A ENST00000075120.7 - 10 1721 c.1481C>T c.(1480-1482)aCc>aTc p.T494I NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 494 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TTAGACATTGGTGGTGGTCTC 0.572000 27 266 0 0 7.24521e-05 0 0 CS 1431 broad.mit.edu 37 12 56679756 56679756 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:56679756T>C ENST00000351328.3 - 3 335 c.145A>G c.(145-147)Aag>Gag p.K49E RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K245E|CS_ENST00000542324.2_Missense_Mutation_p.K36E|CS_ENST00000548567.1_5'UTR NM_004077.2 NP_004068.2 O75390 CISY_HUMAN citrate synthase 49 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CTGAAAGTCTTAATTCTGGCC 0.428000 33 213 0 0 0.000159656 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54894360 54894360 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:54894360G>A ENST00000293373.6 + 3 336 c.257G>A c.(256-258)aGa>aAa p.R86K NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R36K NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 86 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GAGATAATTAGATTCCTCACC 0.393000 10 132 0 0 3.86212e-05 0 0 AMPH 273 broad.mit.edu 37 7 38530661 38530661 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:38530661G>A ENST00000356264.2 - 5 600 c.385C>T c.(385-387)Cct>Tct p.P129S AMPH_ENST00000428293.2_Missense_Mutation_p.P129S|AMPH_ENST00000325590.5_Missense_Mutation_p.P129S NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 129 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.P129S(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TTTATGTCAGGAAATTGCCCC 0.398000 14 202 0 0 0.000422831 0 0 PLCL1 5334 broad.mit.edu 37 2 198949115 198949115 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:198949115G>A ENST00000428675.1 + 2 1272 c.874G>A c.(874-876)Gaa>Aaa p.E292K PLCL1_ENST00000437704.2_Missense_Mutation_p.E194K NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 292 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GAAGAGCAAGGAAAAACTAAC 0.393000 23 63 0 0 7.16444e-05 0 0 TNFSF15 9966 broad.mit.edu 37 9 117552881 117552881 + Missense_Mutation SNP C C T rs150498686 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:117552881C>T ENST00000374045.4 - 4 720 c.607G>A c.(607-609)Gaa>Aaa p.E203K TNFSF15_ENST00000374044.1_Missense_Mutation_p.E126K NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 203 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 CTACCTACTTCGCATACAGAC 0.527000 5 33 0 0 1.23904e-05 0 0 SLC26A10 65012 broad.mit.edu 37 12 58017649 58017649 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:58017649C>T ENST00000379218.2 + 8 1395 c.1084C>T c.(1084-1086)Ctg>Ttg p.L362L SLC26A10_ENST00000320442.4_Silent_p.L362L Q8NG04 S2610_HUMAN solute carrier family 26, member 10 362 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CACAGTGGTCCTGTCGGTGCT 0.567000 10 119 0 0 6.40141e-05 0 0 ZMYM6 9204 broad.mit.edu 37 1 35452992 35452992 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:35452992C>T ENST00000357182.4 - 16 3918 c.3691G>A c.(3691-3693)Gaa>Aaa p.E1231K ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 1231 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TTTTCTTCTTCGAAGTCGGTG 0.353000 18 67 0 0 9.7654e-05 0 0 PAK4 10298 broad.mit.edu 37 19 39667342 39667342 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:39667342C>T ENST00000599386.1 + 7 1194 c.1013C>T c.(1012-1014)cCc>cTc p.P338L PAK4_ENST00000435673.2_Missense_Mutation_p.P491L|PAK4_ENST00000599470.1_Missense_Mutation_p.P338L|PAK4_ENST00000593690.1_Missense_Mutation_p.P491L|PAK4_ENST00000358301.3_Missense_Mutation_p.P491L|PAK4_ENST00000321944.4_Missense_Mutation_p.P401L|PAK4_ENST00000360442.3_Missense_Mutation_p.P491L NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 491 Protein kinase. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) TCCCGCCTTCCCTACGGGCCA 0.667000 7 80 0 0 0.000157383 0 0 GOT1 2805 broad.mit.edu 37 10 101163546 101163546 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:101163546T>C ENST00000370508.5 - 6 755 c.728A>G c.(727-729)tAt>tGt p.Y243C GOT1_ENST00000543866.1_Missense_Mutation_p.Y222C NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 243 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGACACAAAATAGCGAATGGC 0.542000 4 49 0 0 1.23904e-05 0 0 LMX1A 4009 broad.mit.edu 37 1 165173144 165173144 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:165173144G>A ENST00000342310.3 - 9 1504 c.1122C>T c.(1120-1122)tcC>tcT p.S374S LMX1A_ENST00000367893.4_Silent_p.S374S|LMX1A_ENST00000294816.2_Silent_p.S374S|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 374 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) AATTCTGCATGGAGTACAGAT 0.493000 13 51 0 0 0.000219431 0 0 HEPHL1 341208 broad.mit.edu 37 11 93779085 93779085 + Splice_Site SNP T T A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:93779085T>A ENST00000315765.9 + 2 423 c.e2+2 NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATTCAGAAGGTAAATATCAAT 0.368000 6 48 0 0 0.000157383 0 0 VPS13D 55187 broad.mit.edu 37 1 12339581 12339581 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:12339581C>T ENST00000358136.3 + 20 4606 c.4476C>T c.(4474-4476)acC>acT p.T1492T VPS13D_ENST00000356315.4_Silent_p.T1492T NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1492 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACAACACCACCATTCAGTTTA 0.363000 11 50 0 0 6.40141e-05 0 0 C17orf102 400591 broad.mit.edu 37 17 32906108 32906108 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:32906108G>A ENST00000357754.1 - 1 280 c.192C>T c.(190-192)tcC>tcT p.S64S NM_207454.2 NP_997337.2 A2RUQ5 CQ102_HUMAN chromosome 17 open reading frame 102 64 central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 CCGCGCCTCTGGAAGAGCGGC 0.667000 9 88 0 0 0.000151284 0 0 KIAA1715 80856 broad.mit.edu 37 2 176812397 176812397 + Missense_Mutation SNP G G C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:176812397G>C ENST00000272748.4 - 9 764 c.517C>G c.(517-519)Caa>Gaa p.Q173E KIAA1715_ENST00000535310.1_Missense_Mutation_p.Q98E|KIAA1715_ENST00000544803.1_Missense_Mutation_p.Q173E NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 173 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) AGGTTTCTTTGAGCTGCAGTT 0.443000 7 90 0 0 0.000157383 0 0 PASD1 139135 broad.mit.edu 37 X 150841077 150841077 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:150841077G>A ENST00000370357.4 + 14 2105 c.1860G>A c.(1858-1860)caG>caA p.Q620Q NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 620 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) CTGAACAACAGCCCTCTGGCT 0.468000 6 34 0 0 0.000157383 0 0 TTN 7273 broad.mit.edu 37 2 179577951 179577951 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:179577951C>T ENST00000589042.1 - 93 27134 c.26910G>A c.(26908-26910)agG>agA p.R8970R TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.R8653R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R7726R|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8653 Ig-like 72. 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) TCTGGTATTTCCTTCCACTAC 0.438000 9 23 0 0 0.000274275 0 0 DYSF 8291 broad.mit.edu 37 2 71908140 71908140 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:71908140G>A ENST00000258104.3 + 53 6233 c.5956G>A c.(5956-5958)Gaa>Aaa p.E1986K DYSF_ENST00000394120.2_Missense_Mutation_p.E1987K|DYSF_ENST00000409762.1_Missense_Mutation_p.E2003K|DYSF_ENST00000409651.1_Missense_Mutation_p.E2018K|DYSF_ENST00000413539.2_Missense_Mutation_p.E2017K|DYSF_ENST00000429174.2_Missense_Mutation_p.E2007K|DYSF_ENST00000410041.1_Missense_Mutation_p.E2004K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1994K|DYSF_ENST00000410020.3_Missense_Mutation_p.E2025K|DYSF_ENST00000409366.1_Missense_Mutation_p.E2008K|DYSF_ENST00000409582.3_Missense_Mutation_p.E2024K|DYSF_ENST00000479049.2_3'UTR NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1986 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGGCAAGCTGGAAATGACCTT 0.572000 5 45 0 0 0.000157383 0 0 ELN 2006 broad.mit.edu 37 7 73474766 73474766 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:73474766G>A ENST00000252034.7 + 25 2081 c.1682G>A c.(1681-1683)gGa>gAa p.G561E ELN_ENST00000380575.4_Missense_Mutation_p.G532E|ELN_ENST00000380584.4_Missense_Mutation_p.G513E|ELN_ENST00000380576.5_Missense_Mutation_p.G542E|ELN_ENST00000358929.4_Missense_Mutation_p.G596E|ELN_ENST00000357036.5_Missense_Mutation_p.G566E|ELN_ENST00000445912.1_Missense_Mutation_p.G561E|ELN_ENST00000380562.4_Missense_Mutation_p.G567E|ELN_ENST00000320399.6_Missense_Mutation_p.G561E|ELN_ENST00000380553.4_Missense_Mutation_p.G425E|ELN_ENST00000320492.7_Missense_Mutation_p.G480E|ELN_ENST00000458204.1_Missense_Mutation_p.G551E|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G537E|ELN_ENST00000429192.1_Missense_Mutation_p.G547E NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 590 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGCGTCCCTGGACTTGGAGTT 0.632000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 17 69 0 0 9.7654e-05 0 0 ZC3H3 23144 broad.mit.edu 37 8 144621206 144621206 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:144621206G>A ENST00000262577.5 - 2 362 c.331C>T c.(331-333)Ctt>Ttt p.L111F NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 111 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TGTCTCTCAAGGACATGCTGC 0.662000 11 68 0 0 0.00010058 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725065 140725065 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140725065T>C ENST00000253812.6 + 1 1465 c.1465T>C c.(1465-1467)Tat>Cat p.Y489H PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCATCACTTATGCATTGAC 0.552000 5 96 0 0 1.23904e-05 0 0 MNAT1 4331 broad.mit.edu 37 14 61201633 61201633 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:61201633C>T ENST00000261245.4 + 1 154 c.53C>T c.(52-54)tCc>tTc p.S18F MNAT1_ENST00000539616.2_Missense_Mutation_p.S18F|MNAT1_ENST00000555545.1_3'UTR NM_002431.3 NP_002422.1 P51948 MAT1_HUMAN MNAT CDK-activating kinase assembly factor 1 18 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cytoplasm|holo TFIIH complex protein N-terminus binding|zinc ion binding NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0174) CGGAACCCCTCCTTGAAGCTG 0.602000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 5 84 0 0 3.59834e-05 0 0 SLC2A3 6515 broad.mit.edu 37 12 8074018 8074018 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:8074018G>A ENST00000075120.7 - 10 1722 c.1482C>T c.(1480-1482)acC>acT p.T494T NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 494 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) CTTAGACATTGGTGGTGGTCT 0.572000 27 262 0 0 7.24521e-05 0 0 PAK7 57144 broad.mit.edu 37 20 9546931 9546931 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:9546931G>A ENST00000378429.3 - 6 1637 c.1091C>T c.(1090-1092)tCg>tTg p.S364L PAK7_ENST00000353224.5_Missense_Mutation_p.S364L|PAK7_ENST00000378423.1_Missense_Mutation_p.S364L NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 364 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.S364L(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGAATAGCCCGATTTGCTTTG 0.562000 21 79 0 0 0.000229342 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813585 106813585 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:106813585G>A ENST00000407775.2 + 8 1525 c.1275G>A c.(1273-1275)aaG>aaA p.K425K RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.K156K|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.K293K|ZFPM2_ENST00000517361.1_Silent_p.K293K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 425 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGAGCCAAAAGGCCATGCAGA 0.493000 5 42 0 0 1.23904e-05 0 0 CHRNB1 1140 broad.mit.edu 37 17 7359980 7359980 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:7359980G>T ENST00000306071.2 + 11 1511 c.1444G>T c.(1444-1446)Ggg>Tgg p.G482W CHRNB1_ENST00000536404.2_Missense_Mutation_p.G410W|CHRNB1_ENST00000576360.1_Missense_Mutation_p.G361W|CHRNB1_ENST00000575379.1_Missense_Mutation_p.G18W NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 482 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) CACCAGCGTTGGGACCCTAGT 0.572000 6 69 0.000157383 0.00417414 0.000157383 1 0 GPR179 440435 broad.mit.edu 37 17 36499253 36499253 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:36499253C>T ENST00000342292.4 - 1 440 c.420G>A c.(418-420)ggG>ggA p.G140G NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 140 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTCTTGGGTCCCCCTCGGCCA 0.607000 4 42 0 0 3.59834e-05 0 0 SLC2A10 81031 broad.mit.edu 37 20 45355518 45355518 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:45355518T>C ENST00000359271.2 + 3 1554 c.1304T>C c.(1303-1305)cTc>cCc p.L435P NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 435 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TGGCTTGTCCTCAGCGAGATC 0.592000 10 130 0 0 6.40141e-05 0 0 PXDNL 137902 broad.mit.edu 37 8 52366211 52366211 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:52366211C>T ENST00000356297.4 - 10 1217 c.1117G>A c.(1117-1119)Gga>Aga p.G373R PXDNL_ENST00000543296.1_Missense_Mutation_p.G373R NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 373 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCCTGGATCCATCCAGCTCC 0.507000 11 36 0 0 6.40141e-05 0 0 PLCB1 23236 broad.mit.edu 37 20 8637901 8637901 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:8637901G>A ENST00000378641.3 + 8 1140 c.665G>A c.(664-666)cGa>cAa p.R222Q PLCB1_ENST00000378637.2_Missense_Mutation_p.R222Q|PLCB1_ENST00000338037.6_Missense_Mutation_p.R222Q NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 222 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTTTGCCCTCGACCTGAAATT 0.383000 13 77 0 0 9.7654e-05 0 0 PEG3 5178 broad.mit.edu 37 19 57325750 57325750 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:57325750G>A ENST00000326441.9 - 10 4423 c.4060C>T c.(4060-4062)Cat>Tat p.H1354Y ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H1230Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H1228Y|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H1354Y NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1354 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTTCCAGATGAAGCTCCTTA 0.453000 8 34 0 0 2.17888e-05 0 0 OR10X1 128367 broad.mit.edu 37 1 158548760 158548760 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:158548760C>T ENST00000368150.1 - 1 929 c.930G>A c.(928-930)atG>atA p.M310I NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M310I(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AAGCATTTTTCATGTCCTTAT 0.438000 27 110 0 0 7.16444e-05 0 0 MUC3A 4584 broad.mit.edu 37 7 100552009 100552009 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:100552009C>T ENST00000319509.7 + 1 760 c.760C>T c.(760-762)Cca>Tca p.P254S mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CAGCATAACTCCAGTGTTCTC 0.428000 35 797 0 0 0.000191422 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784418 15784418 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:15784418G>A ENST00000550308.1 + 2 459 c.79G>A c.(79-81)Ggc>Agc p.G27S CYP4F12_ENST00000324632.9_Missense_Mutation_p.G27S NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GCTGGTTGTGGGCTCCTGGCT 0.627000 8 105 0 0 0.000274275 0 0 PREX1 57580 broad.mit.edu 37 20 47276592 47276592 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:47276592C>T ENST00000396220.1 - 16 1768 c.1746G>A c.(1744-1746)gaG>gaA p.E582E PREX1_ENST00000371941.3_Silent_p.E582E Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 582 DEP 2. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACTCGCTCTTCTCCAGCACTG 0.537000 13 48 0 0 0.000308642 0 0 NEO1 4756 broad.mit.edu 37 15 73536798 73536798 + Missense_Mutation SNP G G C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:73536798G>C ENST00000339362.5 + 10 2012 c.1565G>C c.(1564-1566)gGa>gCa p.G522A NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Missense_Mutation_p.G522A|NEO1_ENST00000558964.1_Missense_Mutation_p.G522A|NEO1_ENST00000560262.1_Missense_Mutation_p.G522A Q92859 NEO1_HUMAN neogenin 1 522 Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CATGGCTCAGGAGAGAGTTCA 0.483000 13 58 0 0 0.000308642 0 0 MPP2 4355 broad.mit.edu 37 17 41959867 41959867 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:41959867G>A ENST00000269095.4 - 6 770 c.466C>T c.(466-468)Cgc>Tgc p.R156C MPP2_ENST00000536246.1_Missense_Mutation_p.R145C|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000523501.1_Missense_Mutation_p.R145C|MPP2_ENST00000377184.3_Missense_Mutation_p.R173C|MPP2_ENST00000518766.1_Missense_Mutation_p.R201C|MPP2_ENST00000520305.1_Missense_Mutation_p.R17C|MPP2_ENST00000461854.1_Missense_Mutation_p.R180C NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 180 signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCCTCCACGCGGAACGTTACA 0.552000 4 34 0 0 0.00024832 0 0 RBM48 84060 broad.mit.edu 37 7 92163790 92163790 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:92163790G>A ENST00000481551.1 + 4 564 c.523G>A c.(523-525)Gag>Aag p.E175K RBM48_ENST00000265732.5_Missense_Mutation_p.E175K Q5RL73 CG064_HUMAN RNA binding motif protein 48 175 nucleotide binding CTTCCACTCAGAGATGTCTGG 0.363000 13 54 0 0 0.000308642 0 0 COL1A1 1277 broad.mit.edu 37 17 48263850 48263850 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:48263850G>A ENST00000225964.5 - 49 3951 c.3833C>T c.(3832-3834)cCc>cTc p.P1278L NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1278 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCCTTGGTTGGGGTCAATCCA 0.572000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 14 44 0 0 5.01169e-05 0 0 PRR11 55771 broad.mit.edu 37 17 57275069 57275069 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:57275069C>T ENST00000262293.4 + 9 1245 c.933C>T c.(931-933)acC>acT p.T311T CTD-2510F5.6_ENST00000577660.1_Silent_p.T18T NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 311 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CAGGTGGAACCCCTCTTACCA 0.408000 7 194 0 0 0.000274275 0 0 TOX2 84969 broad.mit.edu 37 20 42697318 42697318 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:42697318C>T ENST00000358131.5 + 8 1667 c.1459C>T c.(1459-1461)Ctc>Ttc p.L487F TOX2_ENST00000435864.2_Missense_Mutation_p.L383F|TOX2_ENST00000423191.1_Missense_Mutation_p.L463F|TOX2_ENST00000372999.1_Missense_Mutation_p.L463F|TOX2_ENST00000341197.3_Missense_Mutation_p.L505F NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) ATCGCTCTACCTCACCTAATC 0.632000 6 25 0 0 8.12818e-05 0 0 CENPN 55839 broad.mit.edu 37 16 81060211 81060211 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:81060211C>T ENST00000305850.5 + 9 1568 c.778C>T c.(778-780)Cct>Tct p.P260S CENPN_ENST00000439957.3_Missense_Mutation_p.P240S|RP11-303E16.3_ENST00000566390.1_RNA|RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000428963.2_Missense_Mutation_p.P226S|CENPN_ENST00000393335.3_Missense_Mutation_p.P260S NM_001100624.2|NM_001270474.1 NP_001094094.2|NP_001257403.1 Q96H22 CENPN_HUMAN centromere protein N 260 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|large_intestine(5)|lung(4) 10 TGGAGATTATCCTCAACCACA 0.308000 11 157 0 0 0.00010058 0 0 TANC2 26115 broad.mit.edu 37 17 61498334 61498334 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:61498334T>C ENST00000424789.2 + 25 4995 c.4991T>C c.(4990-4992)aTt>aCt p.I1664T RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.I1674T NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1664 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CAAGGGTCAATTGGGGGAATC 0.537000 5 93 0 0 1.23904e-05 0 0 EGFR 1956 broad.mit.edu 37 7 55238005 55238005 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:55238005G>A ENST00000344576.2 + 16 2131 c.1886G>A c.(1885-1887)gGa>gAa p.G629E EGFR_ENST00000455089.1_Intron|EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron NM_201284.1 NP_958441.1 P00533 EGFR_HUMAN epidermal growth factor receptor 632 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCCAGGCCAGGAAATGAGAGT 0.458000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 10 54 0 0 6.40141e-05 0 0 TMC2 117532 broad.mit.edu 37 20 2597740 2597740 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:2597740G>A ENST00000358864.1 + 16 1978 c.1963G>A c.(1963-1965)Ggc>Agc p.G655S TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 655 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTATGCTCCAGGCCTGGTGGG 0.567000 7 35 0 0 2.17888e-05 0 0 MYH15 22989 broad.mit.edu 37 3 108174625 108174625 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:108174625G>A ENST00000273353.3 - 21 2336 c.2280C>T c.(2278-2280)tcC>tcT p.S760S NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 760 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CTATCTCCAAGGAGCCAAGTA 0.413000 16 146 0 0 0.000422831 0 0 TRIM15 89870 broad.mit.edu 37 6 30131599 30131599 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:30131599G>A ENST00000376694.4 + 1 607 c.138G>A c.(136-138)atG>atA p.M46I TRIM15_ENST00000376688.1_Missense_Mutation_p.M46I NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 46 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 TCTCCCAGATGGGGGCCCAAT 0.687000 7 32 0 0 0.000157383 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 9 0 0 6.4e-05 0 0 NLRP13 126204 broad.mit.edu 37 19 56424571 56424571 + Silent SNP G G A rs142264094 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:56424571G>A ENST00000588751.1 - 5 636 c.612C>T c.(610-612)atC>atT p.I204I NLRP13_ENST00000342929.3_Silent_p.I204I Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 204 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATGTATTACGGATATATACGT 0.498000 21 160 0 0 0.000229342 0 0 ZNF90 7643 broad.mit.edu 37 19 20229365 20229365 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:20229365C>T ENST00000418063.2 + 4 1114 c.1002C>T c.(1000-1002)atC>atT p.I334I ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 334 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I334I(1) breast(1)|lung(2)|ovary(1)|skin(1) 5 ATAAGAGAATCCATACTGGAG 0.408000 6 12 0 0 3.59834e-05 0 0 MYH15 22989 broad.mit.edu 37 3 108174626 108174626 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:108174626G>A ENST00000273353.3 - 21 2335 c.2279C>T c.(2278-2280)tCc>tTc p.S760F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 760 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TATCTCCAAGGAGCCAAGTAA 0.408000 15 147 0 0 0.000219431 0 0 ACTC1 70 broad.mit.edu 37 15 35083487 35083487 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:35083487G>A ENST00000290378.4 - 6 1473 c.818C>T c.(817-819)tCt>tTt p.S273F RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 273 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GATGCCAGCAGATTCCATACC 0.468000 12 82 0 0 6.40141e-05 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58849896 58849896 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:58849896G>A ENST00000329665.4 + 3 827 c.680G>A c.(679-681)aGg>aAg p.R227K NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 227 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGTGCCTCGAGGAACAGTTCT 0.517000 28 135 0 0 0.000339439 0 0 PPP4R1 9989 broad.mit.edu 37 18 9570421 9570421 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:9570421G>T ENST00000400556.3 - 11 1380 c.1307C>A c.(1306-1308)cCa>cAa p.P436Q PPP4R1_ENST00000400555.3_Missense_Mutation_p.P419Q NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 436 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 GCCAACCTCTGGTCGTAACAT 0.408000 22 100 4.26978e-12 1.17126e-10 5.49717e-05 1 0 ADCY8 114 broad.mit.edu 37 8 131861885 131861885 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:131861885G>A ENST00000286355.5 - 10 4467 c.2375C>T c.(2374-2376)tCc>tTc p.S792F ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 792 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AATCAAAATGGATGCAAAGAT 0.443000 HNSCC(32;0.087) 7 44 0 0 0.000274275 0 0 IQCG 84223 broad.mit.edu 37 3 197670848 197670848 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:197670848G>A ENST00000265239.6 - 4 507 c.83C>T c.(82-84)cCa>cTa p.P28L IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.P28L|IQCG_ENST00000453254.1_Missense_Mutation_p.P28L NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 28 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GGTACTAGGTGGTTCGCCTGT 0.433000 31 147 0 0 0.000279167 0 0 DDX20 11218 broad.mit.edu 37 1 112305559 112305559 + Missense_Mutation SNP C C G rs142254105 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:112305559C>G ENST00000475700.1 + 2 2424 c.66C>G c.(64-66)tgC>tgG p.C22W DDX20_ENST00000369702.4_Missense_Mutation_p.C414W|DDX20_ENST00000536167.1_3'UTR Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 414 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTACTGTTGCCGGGGAGAGG 0.378000 5 46 0 0 3.59834e-05 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142500671 142500671 + Nonsense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:142500671C>T ENST00000378004.3 + 18 2012 c.1657C>T c.(1657-1659)Cag>Tag p.Q553* ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.Q553* NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 553 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCAAATTTCAGAACATTGT 0.443000 18 87 0 0 5.01169e-05 0 0 TUBA3D 113457 broad.mit.edu 37 2 132235846 132235846 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:132235846G>A ENST00000321253.6 + 2 220 c.113G>A c.(112-114)aGt>aAt p.S38N NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 38 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) CAAATGCCAAGTGATAAAACC 0.557000 8 90 0 0 0.000274275 0 0 ACSL1 2180 broad.mit.edu 37 4 185678861 185678861 + Splice_Site SNP C C A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:185678861C>A ENST00000515030.1 - 20 2210 c.e20-1 ACSL1_ENST00000513317.1_Splice_Site|ACSL1_ENST00000454703.2_Splice_Site|ACSL1_ENST00000281455.2_Splice_Site|ACSL1_ENST00000507295.1_Splice_Site|ACSL1_ENST00000437665.3_Splice_Site|ACSL1_ENST00000504342.1_Splice_Site P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TTTTGACATCCTAAAAGGGTA 0.398000 8 150 0.000157383 0.00417414 0.000157383 1 0 PPA2 27068 broad.mit.edu 37 4 106367568 106367568 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:106367568T>C ENST00000341695.5 - 5 443 c.413A>G c.(412-414)tAt>tGt p.Y138C PPA2_ENST00000357415.4_Missense_Mutation_p.Y153C|PPA2_ENST00000432483.2_Intron|PPA2_ENST00000380004.2_Missense_Mutation_p.Y120C|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000348706.5_Missense_Mutation_p.Y138C|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000310267.7_Missense_Mutation_p.Y59C NM_176869.2 NP_789845.1 Q9H2U2 IPYR2_HUMAN pyrophosphatase (inorganic) 2 138 diphosphate metabolic process|tRNA aminoacylation for protein translation mitochondrial matrix inorganic diphosphatase activity|magnesium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 11 Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.03e-07) ATTCCATATATAACCCTTGTA 0.373000 14 115 0 0 9.7654e-05 0 0 IP6K1 9807 broad.mit.edu 37 3 49785291 49785291 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:49785291G>A ENST00000321599.4 - 2 484 c.183C>T c.(181-183)tcC>tcT p.S61S IP6K1_ENST00000395238.1_Intron|IP6K1_ENST00000468463.1_Silent_p.S61S|IP6K1_ENST00000460540.1_Intron NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 61 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 CGGGAGGGAGGGACTCGTAAA 0.537000 6 35 0 0 8.12818e-05 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653866 46653866 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:46653866G>A ENST00000253255.5 - 1 5353 c.5354C>T c.(5353-5355)tCg>tTg p.S1785L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1785 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) GATTTTAGACGAGCTTTCAGG 0.423000 53 174 0 0 0.000147903 0 0 ZNF347 84671 broad.mit.edu 37 19 53644814 53644814 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:53644814G>T ENST00000452676.2 - 5 1696 c.1270C>A c.(1270-1272)Cac>Aac p.H424N ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.H424N|ZNF347_ENST00000334197.7_Missense_Mutation_p.H423N NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TCTCCAGTGTGAATTCTCCAG 0.428000 9 129 4.68919e-08 1.27538e-06 3.86212e-05 1 0 CNDP1 84735 broad.mit.edu 37 18 72229330 72229330 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:72229330C>T ENST00000582365.1 + 4 452 c.386C>T c.(385-387)gCt>gTt p.A129V CNDP1_ENST00000585136.1_3'UTR|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000358821.3_Missense_Mutation_p.A172V Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 172 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) CCTGTCTTGGCTTGGATCAAT 0.512000 19 69 0 0 0.000175454 0 0 FOLH1 2346 broad.mit.edu 37 11 49195014 49195014 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:49195014G>A ENST00000340334.7 - 11 1443 c.1075C>T c.(1075-1077)Ctg>Ttg p.L359L FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.L374L|FOLH1_ENST00000356696.3_Silent_p.L374L|FOLH1_ENST00000343844.4_Silent_p.L66L|FOLH1_ENST00000533034.1_Silent_p.L359L NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 374 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGACCTCCCAGAATGACATAT 0.388000 13 83 0 0 9.7654e-05 0 0 SOAT1 6646 broad.mit.edu 37 1 179310230 179310230 + Missense_Mutation SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:179310230T>C ENST00000367619.3 + 7 708 c.565T>C c.(565-567)Tgg>Cgg p.W189R SOAT1_ENST00000539888.1_Missense_Mutation_p.W124R|SOAT1_ENST00000540564.1_Missense_Mutation_p.W131R|SOAT1_ENST00000535686.1_5'UTR NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 189 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TTGGACCTGGTGGATCATGTT 0.448000 15 77 0 0 0.000219431 0 0 DSG2 1829 broad.mit.edu 37 18 29100904 29100904 + Nonsense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:29100904C>T ENST00000261590.8 + 4 564 c.355C>T c.(355-357)Cga>Tga p.R119* DSG2_ENST00000585206.1_Nonsense_Mutation_p.R119* NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 119 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CATTCTTGATCGAGAAGAAAC 0.294000 6 53 0 0 0.000157383 0 0 SMOX 54498 broad.mit.edu 37 20 4162833 4162833 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:4162833C>T ENST00000305958.4 + 5 932 c.707C>T c.(706-708)cCc>cTc p.P236L SMOX_ENST00000339123.6_Missense_Mutation_p.P236L|SMOX_ENST00000278795.3_Missense_Mutation_p.P236L|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.P236L NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 236 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) CACATCATCCCCTCGGGCTTC 0.647000 8 34 0 0 0.000274275 0 0 RYR2 6262 broad.mit.edu 37 1 237666774 237666774 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:237666774C>T ENST00000366574.2 + 22 2899 c.2582C>T c.(2581-2583)gCc>gTc p.A861V RYR2_ENST00000360064.6_Missense_Mutation_p.A859V|RYR2_ENST00000542537.1_Missense_Mutation_p.A845V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 861 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) ACGCAAGCTGCCTTCACACCC 0.502000 11 81 0 0 0.00010058 0 0 SULT1A1 6817 broad.mit.edu 37 16 28620051 28620051 + Silent SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:28620051G>T ENST00000395609.1 - 4 884 c.126C>A c.(124-126)ctC>ctA p.L42L SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.L42L|SULT1A1_ENST00000314752.7_Silent_p.L42L|SULT1A1_ENST00000395607.1_Silent_p.L42L P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 42 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 AGGTGCTGATGAGCAGGTCAT 0.657000 7 54 1.06961e-07 2.90095e-06 0.000157383 1 0 NFASC 23114 broad.mit.edu 37 1 204913534 204913534 + Splice_Site SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:204913534C>T ENST00000367172.4 + 3 419 c.91_splice c.e3+1 p.P31_splice NFASC_ENST00000513543.1_Splice_Site_p.L31_splice|NFASC_ENST00000401399.1_Splice_Site_p.P31_splice|NFASC_ENST00000404907.1_Splice_Site_p.L31_splice|NFASC_ENST00000360049.4_Splice_Site_p.L31_splice|NFASC_ENST00000338515.6_Splice_Site_p.P31_splice|NFASC_ENST00000338586.6_Splice_Site_p.P31_splice|NFASC_ENST00000404076.1_Splice_Site_p.L31_splice|NFASC_ENST00000339876.6_Splice_Site_p.P31_splice|NFASC_ENST00000367170.4_Splice_Site_p.P31_splice|NFASC_ENST00000367171.4_Splice_Site_p.L31_splice|NFASC_ENST00000539706.1_Splice_Site_p.L31_splice|NFASC_ENST00000367169.4_Splice_Site_p.P31_splice|NFASC_ENST00000403080.1_Splice_Site_p.P31_splice O94856 NFASC_HUMAN neurofascin 31 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.L31L(1)|p.P31S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCCTATGGATCGTGAGTCCTG 0.572000 5 19 0 0 1.23904e-05 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895338 42895338 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:42895338C>T ENST00000399770.2 + 1 55 c.55C>T c.(55-57)Cgg>Tgg p.R19W NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 19 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AGTCCGGTTTCGGATCGCGTC 0.512000 9 78 0 0 2.17888e-05 0 0 KCNQ3 3786 broad.mit.edu 37 8 133184904 133184904 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:133184904C>T ENST00000388996.4 - 7 1501 c.1081G>A c.(1081-1083)Gag>Aag p.E361K KCNQ3_ENST00000519445.1_Missense_Mutation_p.E361K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E241K NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 361 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CGGTGTTGCTCCTGCACCTTG 0.587000 5 96 0 0 1.23904e-05 0 0 COL5A2 1290 broad.mit.edu 37 2 189907957 189907957 + Missense_Mutation SNP C C T rs142186131 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:189907957C>T ENST00000374866.3 - 48 3665 c.3391G>A c.(3391-3393)Ggt>Agt p.G1131S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1131 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) CCATGATCACCTTTGTCACCA 0.423000 6 43 0 0 0.000157383 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967281 106967281 + RNA SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr14:106967281G>A ENST00000390622.2 - 0 422 TGCCTTGCAGGAAACCTTCAC 0.562000 12 58 0 0 6.40141e-05 0 0 CCDC85A 114800 broad.mit.edu 37 2 56611443 56611443 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:56611443G>A ENST00000407595.2 + 6 2117 c.1615G>A c.(1615-1617)Gga>Aga p.G539R RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 539 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTCGTGTCCTGGAATTAGGCA 0.413000 17 75 0 0 0.000295444 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60989120 60989120 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:60989120C>T ENST00000252998.1 - 10 1443 c.1287G>A c.(1285-1287)gaG>gaA p.E429E NM_080833.2 NP_543023.2 RBBP8 N-terminal like TGGCTGCAGCCTCTGTCCTCT 0.726000 3 8 0 0 0.00024832 0 0 GDF5OS 554250 broad.mit.edu 37 20 34022052 34022052 + Nonsense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:34022052G>A ENST00000374375.1 + 2 538 c.96G>A c.(94-96)tgG>tgA p.W32* GDF5_ENST00000374369.3_Silent_p.R387R|GDF5_ENST00000374372.1_Silent_p.R387R cervix(1)|endometrium(4)|lung(4) 9 GCTTGCCCTGGCGAGTGGCCA 0.582000 16 174 0 0 5.01169e-05 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187229 140187229 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140187229C>T ENST00000530339.1 + 1 457 c.457C>T c.(457-459)Cca>Tca p.P153S PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P153S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P153S NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCGGTTTCCACTAGAGGG 0.537000 15 84 0 0 5.01169e-05 0 0 SULT1B1 27284 broad.mit.edu 37 4 70620402 70620402 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:70620402C>T ENST00000310613.2 - 3 560 c.263G>A c.(262-264)gGa>gAa p.G88E NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 88 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TGTTCTTAATCCAGGGAGAGT 0.303000 13 161 0 0 0.000422831 0 0 PCSK5 5125 broad.mit.edu 37 9 78796501 78796501 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:78796501G>A ENST00000545128.1 + 16 2729 c.2191G>A c.(2191-2193)Gat>Aat p.D731N PCSK5_ENST00000376752.4_Missense_Mutation_p.D731N NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 731 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTCATATCAGGATACCAGTAA 0.433000 5 63 0 0 1.23904e-05 0 0 RDM1 201299 broad.mit.edu 37 17 34251717 34251717 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:34251717C>T ENST00000394529.3 - 3 876 c.390G>A c.(388-390)ccG>ccA p.P130P RDM1_ENST00000394528.3_Silent_p.P153P|RDM1_ENST00000430160.2_Silent_p.P130P|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394527.1_Intron|RDM1_ENST00000293273.6_Silent_p.P153P|RDM1_ENST00000419453.2_Silent_p.P130P|RDM1_ENST00000431884.2_Silent_p.P153P NM_001163130.1 NP_001156602.1 Q8NG50 RDM1_HUMAN RAD52 motif 1 153 Necessary for nuclear and nucleolar localization. DNA recombination|DNA repair Cajal body|cytoplasm|nucleolus|PML body DNA binding|nucleotide binding|RNA binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGCTTTGCTTCGGAAGTGGCA 0.468000 Other identified genes with known or suspected DNA repair function 18 85 0 0 7.07596e-05 0 0 CDRT1 374286 broad.mit.edu 37 17 15522499 15522499 + Silent SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:15522499A>G ENST00000395906.3 - 1 327 c.328T>C c.(328-330)Ttg>Ctg p.L110L RP11-385D13.1_ENST00000455584.2_Intron NM_006382.3 NP_006373.2 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 110 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) GTTTTATCCAACATTTGGTTC 0.448000 13 154 0 0 0.000219431 0 0 PALD1 27143 broad.mit.edu 37 10 72324133 72324133 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:72324133A>G ENST00000263563.6 + 19 2544 c.2276A>G c.(2275-2277)aAa>aGa p.K759R NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AAGGCAGCGAAAGAGGCGCAA 0.612000 4 69 0 0 0.00024832 0 0 MYO1H 283446 broad.mit.edu 37 12 109882024 109882024 + Missense_Mutation SNP C C G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:109882024C>G ENST00000310903.5 + 29 2889 c.2783C>G c.(2782-2784)tCc>tGc p.S928C MYO1H_ENST00000431443.2_Missense_Mutation_p.S938C B4DNW6 B4DNW6_HUMAN myosin IH 119 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TAAGGTGTCTCCACTAGCAAT 0.463000 11 114 0 0 6.40141e-05 0 0 SMARCA5 8467 broad.mit.edu 37 4 144449755 144449755 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:144449755A>G ENST00000283131.3 + 8 1439 c.977A>G c.(976-978)gAa>gGa p.E326G NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 326 Helicase ATP-binding. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) ATAGTGAGGGAATTCAAGACT 0.368000 5 43 0 0 1.23904e-05 0 0 GRM7 2917 broad.mit.edu 37 3 7188208 7188208 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr3:7188208C>T ENST00000486284.1 + 2 863 c.589C>T c.(589-591)Cgc>Tgc p.R197C GRM7_ENST00000402647.2_Missense_Mutation_p.R197C|GRM7_ENST00000357716.4_Missense_Mutation_p.R197C|GRM7_ENST00000403881.1_Missense_Mutation_p.R197C|GRM7_ENST00000389336.4_Missense_Mutation_p.R197C NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 197 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CTTCTTCTCTCGCGTGGTGCC 0.522000 8 83 0 0 2.17888e-05 0 0 PXDNL 137902 broad.mit.edu 37 8 52320686 52320686 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:52320686C>T ENST00000356297.4 - 17 3598 c.3498G>A c.(3496-3498)aaG>aaA p.K1166K PXDNL_ENST00000543296.1_Silent_p.K1166K NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1166 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCTCAAAGTTCTTAACTGAAG 0.398000 11 79 0 0 3.86212e-05 0 0 AHI1 54806 broad.mit.edu 37 6 135726089 135726089 + Splice_Site SNP T T C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:135726089T>C ENST00000367800.4 - 20 3204 c.2988_splice c.e20+1 p.K996_splice AHI1_ENST00000327035.6_Splice_Site_p.K996_splice|AHI1_ENST00000457866.2_Splice_Site_p.K996_splice|AHI1_ENST00000417892.2_Splice_Site_p.K350_splice NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 996 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) AACTACTTACTTTTGCAGCAC 0.323000 7 36 0 0 0.000274275 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89512991 89512991 + RNA SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:89512991C>T ENST00000498435.1 - 0 298 AAATCTGTCCCAGATCCACTG 0.493000 6 78 0 0 2.17888e-05 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719052 140719052 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140719052C>T ENST00000394576.2 + 1 514 c.514C>T c.(514-516)Ctc>Ttc p.L172F 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) GAAGTACGCACTCAACCCAAA 0.537000 9 77 0 0 2.17888e-05 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148930448 148930448 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:148930448G>A ENST00000261798.5 - 1 512 c.80C>T c.(79-81)tCc>tTc p.S27F CSNK1A1_ENST00000377843.2_Missense_Mutation_p.S27F|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S27F|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.S27F NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 27 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GTCCCCGAAGGAGCCAGACCC 0.537000 13 57 0 0 0.000219431 0 0 CWH43 80157 broad.mit.edu 37 4 49034687 49034687 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:49034687C>T ENST00000226432.4 + 12 1796 c.1613C>T c.(1612-1614)tCg>tTg p.S538L CWH43_ENST00000513409.1_Missense_Mutation_p.S511L NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 538 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GTTAACATTTCGGGCAAGCTG 0.458000 12 87 0 0 0.000219431 0 0 SLC6A13 6540 broad.mit.edu 37 12 344274 344274 + Silent SNP C C T rs147679992 byFrequency TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:344274C>T ENST00000343164.4 - 7 865 c.813G>A c.(811-813)acG>acA p.T271T SLC6A13_ENST00000445055.2_Silent_p.T179T NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 271 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CCCACAGACGCGTGAGGTTTG 0.567000 12 54 0 0 0.000219431 0 0 ERF 2077 broad.mit.edu 37 19 42752930 42752930 + Missense_Mutation SNP T T G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:42752930T>G ENST00000222329.4 - 4 1491 c.1334A>C c.(1333-1335)gAt>gCt p.D445A AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.D370A NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 445 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CTCATCCTCATCACTGATGTC 0.672000 8 101 0 0 0.000274275 0 0 KCNH1 3756 broad.mit.edu 37 1 210857140 210857140 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:210857140C>T ENST00000367007.4 - 11 2541 c.2372G>A c.(2371-2373)gGg>gAg p.G791E KCNH1_ENST00000271751.4_Missense_Mutation_p.G818E NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 818 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GCACTCGGACCCTGGCGCCTG 0.667000 19 62 0 0 0.000229342 0 0 SIGLEC6 946 broad.mit.edu 37 19 52023452 52023452 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:52023452G>A ENST00000346477.3 - 7 1266 c.1198C>T c.(1198-1200)Ccc>Tcc p.P400S SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P364S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P416S|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000343300.4_3'UTR NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 416 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TCTGAGATGGGGCCAGCCTCA 0.502000 20 201 0 0 0.000229342 0 0 FRY 10129 broad.mit.edu 37 13 32798442 32798442 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr13:32798442G>A ENST00000380250.3 + 37 5332 c.4836G>A c.(4834-4836)ccG>ccA p.P1612P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1612 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGCCCTTACCGATGCCTTGTA 0.572000 9 54 0 0 0.000274275 0 0 APOB 338 broad.mit.edu 37 2 21227313 21227313 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:21227313C>T ENST00000233242.1 - 28 12042 c.11915G>A c.(11914-11916)gGa>gAa p.G3972E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3972 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) GTGCGCTTTTCCTTCCCATTC 0.463000 44 360 0 0 0.000147903 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522588 96522588 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:96522588C>T ENST00000371321.3 + 1 208 c.126C>T c.(124-126)atC>atT p.I42I CYP2C19_ENST00000464755.1_Intron NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 42 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTGGAAATATCCTACAGATAG 0.418000 7 63 0 0 0.000157383 0 0 SLC24A3 57419 broad.mit.edu 37 20 19566131 19566131 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr20:19566131C>T ENST00000328041.6 + 6 752 c.555C>T c.(553-555)ggC>ggT p.G185G NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 185 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCATCGTGGGCTCAGCGGTAT 0.532000 38 170 0 0 0.000374591 0 0 PSD2 84249 broad.mit.edu 37 5 139216804 139216804 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:139216804C>T ENST00000274710.3 + 11 1851 c.1646C>T c.(1645-1647)aCc>aTc p.T549I NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 549 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAAAGGGACCATCCTGTAC 0.627000 6 77 0 0 8.12818e-05 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308559 140308559 + Missense_Mutation SNP A A T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140308559A>T ENST00000253807.2 + 1 2082 c.2082A>T c.(2080-2082)ttA>ttT p.L694F PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L694F|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCCTTTTTATTTCTGGGGT 0.478000 9 94 0 0 6.40141e-05 0 0 CACNG2 10369 broad.mit.edu 37 22 36960482 36960482 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr22:36960482G>A ENST00000300105.6 - 4 1869 c.888C>T c.(886-888)ttC>ttT p.F296F NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 296 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GAACCTGGAGGAAGCTGTTAT 0.612000 17 80 0 0 0.000422831 0 0 ABCB5 340273 broad.mit.edu 37 7 20768024 20768024 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:20768024G>A ENST00000404938.2 + 23 3465 c.2813G>A c.(2812-2814)cGa>cAa p.R938Q ABCB5_ENST00000258738.6_Missense_Mutation_p.R493Q NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 493 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GCAGGGTTTCGATTTGGAGCC 0.433000 26 105 0 0 7.16444e-05 0 0 MKX 283078 broad.mit.edu 37 10 28023489 28023489 + Missense_Mutation SNP G G C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:28023489G>C ENST00000375790.5 - 5 1166 c.734C>G c.(733-735)aCa>aGa p.T245R MKX_ENST00000419761.1_Missense_Mutation_p.T245R Q8IYA7 MKX_HUMAN mohawk homeobox 245 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TCTTTGCCTTGTTTTTCCCAT 0.443000 7 101 0 0 0.000274275 0 0 VPS13D 55187 broad.mit.edu 37 1 12336754 12336754 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:12336754G>A ENST00000358136.3 + 19 3239 c.3109G>A c.(3109-3111)Gat>Aat p.D1037N VPS13D_ENST00000356315.4_Missense_Mutation_p.D1037N NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1037 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAGCCTTCGGGATAGCAGGGC 0.488000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 55 0 0 0.000274275 0 0 ALLC 55821 broad.mit.edu 37 2 3743413 3743413 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:3743413C>T ENST00000252505.3 + 8 780 c.618C>T c.(616-618)gtC>gtT p.V206V ALLC_ENST00000471711.1_3'UTR NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 225 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TTGGGGGTGTCTGTGTAGGAT 0.453000 HNSCC(21;0.051) 7 35 0 0 0.000157383 0 0 IGKV3-7 28915 broad.mit.edu 37 2 89278069 89278069 + RNA SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:89278069C>T ENST00000390247.2 - 0 362 GAAGTCTGTCCCAGACCCACT 0.527000 9 29 0 0 0.000219431 0 0 TUBA1C 84790 broad.mit.edu 37 12 49666880 49666880 + Nonsense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:49666880G>A ENST00000301072.6 + 4 1495 c.1220G>A c.(1219-1221)tGg>tAg p.W407* RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Nonsense_Mutation_p.W477* NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 407 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 TTTGTTCACTGGTACGTGGGT 0.562000 13 89 0 0 0.000219431 0 0 IREB2 3658 broad.mit.edu 37 15 78755386 78755386 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:78755386G>A ENST00000258886.8 + 3 378 c.229G>A c.(229-231)Gaa>Aaa p.E77K IREB2_ENST00000560440.1_Missense_Mutation_p.E77K NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 77 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) AAGCAATGTTGAAGTGCCCTT 0.363000 53 204 0 0 0.000147903 0 0 CIITA 4261 broad.mit.edu 37 16 11000685 11000685 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:11000685G>A ENST00000324288.8 + 11 1469 c.1336G>A c.(1336-1338)Gac>Aac p.D446N CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 446 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TCCCCAGTACGACTTTGTCTT 0.627000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 19 81 0 0 7.07596e-05 0 0 COL1A1 1277 broad.mit.edu 37 17 48263849 48263849 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:48263849G>A ENST00000225964.5 - 49 3952 c.3834C>T c.(3832-3834)ccC>ccT p.P1278P NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1278 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) AGCCTTGGTTGGGGTCAATCC 0.567000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 14 46 0 0 5.01169e-05 0 0 SLC6A14 11254 broad.mit.edu 37 X 115576098 115576098 + Silent SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chrX:115576098C>T ENST00000371900.4 + 6 757 c.669C>T c.(667-669)ctC>ctT p.L223L NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 223 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) AAGTGGCGCTCCAACGGTCAA 0.378000 10 34 0 0 6.40141e-05 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603804 140603804 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr5:140603804C>T ENST00000239449.4 + 1 727 c.727C>T c.(727-729)Cct>Tct p.P243S PCDHB14_ENST00000515856.2_Missense_Mutation_p.P90S NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 243 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGAGTTTCCTCAGAGTCT 0.507000 12 69 0 0 0.000151284 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136177 40136177 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr11:40136177G>A ENST00000278198.2 - 2 3629 c.1666C>T c.(1666-1668)Cgg>Tgg p.R556W LRRC4C_ENST00000527150.1_Missense_Mutation_p.R556W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R556W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R556W Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 556 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) TGGTTTTGCCGATGGTGCTGC 0.478000 6 90 0 0 3.59834e-05 0 0 ABCA9 10350 broad.mit.edu 37 17 66992103 66992103 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:66992103C>T ENST00000340001.4 - 26 3699 c.3488G>A c.(3487-3489)gGg>gAg p.G1163E ABCA9_ENST00000370732.2_Missense_Mutation_p.G1163E|ABCA9_ENST00000453985.2_Missense_Mutation_p.G1125E NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1163 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AAAAAATAGCCCTAGAAATCC 0.378000 5 69 0 0 1.23904e-05 0 0 RP1 6101 broad.mit.edu 37 8 55537765 55537765 + Missense_Mutation SNP A A C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr8:55537765A>C ENST00000220676.1 + 4 1471 c.1323A>C c.(1321-1323)caA>caC p.Q441H NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 441 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) CTCAAGACCAAGCAAAGCATC 0.433000 19 85 0 0 0.000175454 0 0 PLXDC2 84898 broad.mit.edu 37 10 20534415 20534415 + Missense_Mutation SNP C C A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr10:20534415C>A ENST00000377252.3 + 13 2295 c.1454C>A c.(1453-1455)gCc>gAc p.A485D PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.A436D NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 485 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 ACATCAGCAGCCAGCATCTTC 0.443000 10 126 3.07112e-06 8.25933e-05 6.40141e-05 1 0 IL22RA1 58985 broad.mit.edu 37 1 24447909 24447909 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:24447909C>T ENST00000270800.1 - 7 1149 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 371 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) AATTGAGCTTCGGGGGTCACC 0.627000 12 111 0 0 0.000308642 0 0 TPM3 7170 broad.mit.edu 37 1 154164430 154164430 + Missense_Mutation SNP C C A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr1:154164430C>A ENST00000368530.2 - 1 257 c.65G>T c.(64-66)cGg>cTg p.R22L TPM3_ENST00000271850.7_Missense_Mutation_p.R22L NM_152263.2 NP_689476.2 P06753 TPM3_HUMAN tropomyosin 3 21 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) TTGCTCTGCCCGATCCAGAGC 0.488000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 8 128 0.000274275 0.00719485 0.000274275 1 0 PRB4 5545 broad.mit.edu 37 12 11461723 11461723 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr12:11461723C>T ENST00000279575.1 - 3 227 c.194G>A c.(193-195)gGa>gAa p.G65E PRB4_ENST00000535904.1_Missense_Mutation_p.G65E|PRB4_ENST00000445719.2_Missense_Mutation_p.G65E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 65 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGACTGGTTTCCTCCTTGTGG 0.622000 HNSCC(22;0.051) 17 229 0 0 9.7654e-05 0 0 LRRC66 339977 broad.mit.edu 37 4 52883637 52883637 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr4:52883637A>G ENST00000343457.3 - 1 149 c.143T>C c.(142-144)tTt>tCt p.F48S NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 48 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 CTTTCCGGTAAAAGAACAATT 0.333000 10 52 0 0 2.17888e-05 0 0 PCLO 27445 broad.mit.edu 37 7 82582495 82582495 + Missense_Mutation SNP G G T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr7:82582495G>T ENST00000423517.2 - 5 8111 c.7774C>A c.(7774-7776)Cca>Aca p.P2592T PCLO_ENST00000333891.8_Missense_Mutation_p.P2592T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2523 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 GAATCTGTTGGAGTCCCTGGT 0.453000 12 195 1.36491e-13 3.75487e-12 0.000151284 1 0 GRM1 2911 broad.mit.edu 37 6 146720330 146720330 + Missense_Mutation SNP A A G TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:146720330A>G ENST00000392299.2 + 8 2625 c.2155A>G c.(2155-2157)Acc>Gcc p.T719A GRM1_ENST00000361719.2_Missense_Mutation_p.T719A|GRM1_ENST00000507907.1_Missense_Mutation_p.T719A|GRM1_ENST00000282753.1_Missense_Mutation_p.T719A|GRM1_ENST00000355289.4_Missense_Mutation_p.T719A|GRM1_ENST00000492807.2_Missense_Mutation_p.T719A Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 719 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) TGTGCAACTAACCCTGGTGGT 0.517000 10 51 0 0 2.17888e-05 0 0 CNOT1 23019 broad.mit.edu 37 16 58589751 58589751 + Missense_Mutation SNP T T A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:58589751T>A ENST00000317147.5 - 20 2873 c.2541A>T c.(2539-2541)gaA>gaT p.E847D CNOT1_ENST00000569240.1_Missense_Mutation_p.E842D|CNOT1_ENST00000441024.2_Missense_Mutation_p.E847D|CNOT1_ENST00000569732.1_5'UTR NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 847 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGCTGTTTGCTTCATCATCTA 0.413000 9 59 0 0 2.17888e-05 0 0 ENPP7 339221 broad.mit.edu 37 17 77709192 77709192 + Silent SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:77709192G>A ENST00000328313.5 + 3 971 c.750G>A c.(748-750)acG>acA p.T250T NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 250 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity p.T250T(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) ACGGCATGACGACCGTGGACA 0.607000 7 61 0 0 0.000274275 0 0 PRDM1 639 broad.mit.edu 37 6 106555006 106555006 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:106555006G>A ENST00000369096.4 + 7 2357 c.2123G>A c.(2122-2124)gGg>gAg p.G708E PRDM1_ENST00000369091.2_Missense_Mutation_p.G672E|PRDM1_ENST00000369089.3_Missense_Mutation_p.G574E NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 708 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CACCTGAAAGGGAACTGCGCT 0.567000 """D, N, Mis, F, S""" DLBCL 26 241 0 0 0.000227799 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88874269 88874270 + Frame_Shift_Del DEL CT CT - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:88874269_88874270delCT ENST00000303236.3 - 13 3032_3033 c.2731_2732delAG c.(2731-2733)gfs p.R911fs EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 911 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ACACACGCTCCTCTCTCTCTCC 0.465 8 768 --- --- --- --- CCDC148 130940 broad.mit.edu 37 2 159107283 159107284 + Splice_Site INS - - T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr2:159107283_159107284insT ENST00000283233.5 - 10 1564_1565 c.e10+1 CCDC148_ENST00000409187.1_Splice_Site NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGATtttttactttttttttct 0.361 2 4 --- --- --- --- TAP2 6891 broad.mit.edu 37 6 32797702 32797707 + Splice_Site DEL GATACC GATACC - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:32797702_32797707delGATACC ENST00000374897.2 - 10 1926_1927 c.1795_splice c.e10+1 p.599_splice TAP2_ENST00000374899.4_Splice_Site_p.599_splice|TAP2_ENST00000452392.2_Splice_Site_p.599_splice NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 599 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding ATTTGTAGAAGATACCTGTGTATATT 0.466 15 154 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 5 7 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 738412 738414 + In_Frame_Del DEL TCA TCA - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:738412_738414delTCA ENST00000382303.1 + 12 4113_4115 c.3461_3463delTCA c.(3460-3465)gtc>g p.VI1154del KANK1_ENST00000382293.3_In_Frame_Del_p.VI996del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.VI1154del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1154 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CTCCGCTATGTCATCAACTTGGC 0.547 7 164 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40789482 40789483 + Splice_Site INS - - A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr9:40789482_40789483insA ENST00000602553.1 - 2 94 c.e2-2 ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTCATGTGCCTAAAAAAAAAAA 0.426 2 4 --- --- --- --- B2M 567 broad.mit.edu 37 15 45007783 45007800 + In_Frame_Del DEL GCAAGGACTGGTCTTTCT GCAAGGACTGGTCTTTCT - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:45007783_45007800delGCAAGGACTGGTCTTTCT ENST00000558401.1 + 2 300_317 c.230_247delGCAAGGACTGGTCTTTCT c.(229-249)aat>a p.SKDWSFY77del B2M_ENST00000559916.1_In_Frame_Del_p.SKDWSFY77del|B2M_ENST00000544417.1_In_Frame_Del_p.SKDWSFY77del|B2M_ENST00000559220.1_Intron NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 77 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.F82V(1)|p.W80*(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TTGTCTTTCAGCAAGGACTGGTCTTTCTATCTCTTGTA 0.431 8 87 --- --- --- --- HCN4 10021 broad.mit.edu 37 15 73660195 73660195 + Frame_Shift_Del DEL G G - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr15:73660195delG ENST00000261917.3 - 1 1410 c.417delC c.(415-417)ccfs p.P139fs NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 139 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGTCCTCGCCGGGGGACGCGT 0.816 2 4 --- --- --- --- C16orf58 64755 broad.mit.edu 37 16 31519172 31519172 + Frame_Shift_Del DEL G G - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr16:31519172delG ENST00000327237.2 - 2 367 c.328delC c.(328-330)tafs p.L110fs C16orf58_ENST00000430477.2_Intron|C16orf58_ENST00000567994.1_Frame_Shift_Del_p.L65fs|C16orf58_ENST00000570164.1_Frame_Shift_Del_p.L110fs Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 110 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 TGGGTGGCTAGGGAGCCGGAG 0.597 2 4 --- --- --- --- HIC1 3090 broad.mit.edu 37 17 1960405 1960407 + In_Frame_Del DEL GGC GGC - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:1960405_1960407delGGC ENST00000399849.2 + 2 581_583 c.421_423delGGC c.(421-423)del p.G148del HIC1_ENST00000322941.3_In_Frame_Del_p.G167del NM_006497.3 NP_006488.2 Q14526 HIC1_HUMAN hypermethylated in cancer 1 167 multicellular organismal development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 READ - Rectum adenocarcinoma(1115;0.236) CCACCTGCGGggcggcggcggcg 0.764 2 4 --- --- --- --- DNAH17 8632 broad.mit.edu 37 17 76522976 76522977 + Frame_Shift_Ins INS - - T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr17:76522976_76522977insT ENST00000389840.5 - 23 3733_3734 c.3609_3610insA c.(3607-3612)aagccafs p.P1204fs DNAH17_ENST00000585328.1_Frame_Shift_Ins_p.P1201fs dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AATTGCTGGCATTTCCGCCGCA 0.629 2 4 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - - T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr18:57013193_57013194insT ENST00000251047.5 - 8 1629_1630 c.912_913insA c.(910-915)aaaggafs p.G305fs NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 305 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 7 138 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12358257 12358257 + Frame_Shift_Del DEL G G - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr19:12358257delG ENST00000426973.1 - 4 1457 c.1458delC c.(1456-1458)ccfs p.P486fs P15621 ZNF44_HUMAN zinc finger protein 44 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TACATTCATAGGGTTTCTCTC 0.378 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36770274-b16e-4ccd-b0f6-ca70cc49632d dd788ab5-5592-4cdf-9c05-2127d2cf6607 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 3 3 --- --- --- ---