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 EEF2K 29904 broad.mit.edu 37 16 22268604 22268604 + Missense_Mutation SNP G G A TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr16:22268604G>A ENST00000263026.5 + 8 1273 c.799G>A c.(799-801)Ggc>Agc p.G267S NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 267 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) TGAGCGTTCCGGCCATCAGCT 0.572000 5 30 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096383 73096383 + Missense_Mutation SNP G G A rs61735759 TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr17:73096383G>A ENST00000450736.2 + 4 1040 c.625G>A c.(625-627)Gag>Aag p.E209K SLC16A5_ENST00000538213.2_Missense_Mutation_p.E249K|SLC16A5_ENST00000580123.1_Missense_Mutation_p.E209K|SLC16A5_ENST00000329783.4_Missense_Mutation_p.E209K O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 209 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCCACCTCCCGAGACACCTGC 0.637000 3 22 0 0 1 0 0 GSTO1 9446 broad.mit.edu 37 10 106019439 106019439 + Missense_Mutation SNP C C G TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr10:106019439C>G ENST00000539281.1 + 3 521 c.165C>G c.(163-165)atC>atG p.I55M GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.I83M|GSTO1_ENST00000369713.5_Missense_Mutation_p.I83M NM_001191003.1 NP_001177932.1 P78417 GSTO1_HUMAN glutathione S-transferase omega 1 83 GST N-terminal. xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity large_intestine(1)|lung(1)|stomach(1) 3 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) GTCAGCTGATCTACGAGTCTG 0.463000 14 44 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380281 147380281 + Missense_Mutation SNP G G A TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr1:147380281G>A ENST00000240986.4 + 2 252 c.199G>A c.(199-201)Gac>Aac p.D67N GJA8_ENST00000369235.1_Missense_Mutation_p.D67N NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 67 cell communication|visual perception connexon complex|integral to plasma membrane channel activity p.D67N(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CGTCTGCTACGACGAGGCCTT 0.612000 13 42 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160998309 160998309 + Missense_Mutation SNP G G A TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr6:160998309G>A ENST00000447678.1 - 29 4610 c.4490C>T c.(4489-4491)cCt>cTt p.P1497L LPA_ENST00000316300.5_Missense_Mutation_p.P1497L NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4005 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTGGACCACAGGGCTTTTCTC 0.428000 17 91 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132306614 132306614 + Missense_Mutation SNP G G T TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr11:132306614G>T ENST00000331898.7 - 5 1302 c.724C>A c.(724-726)Ctg>Atg p.L242M OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.L235M|OPCML_ENST00000374778.4_Missense_Mutation_p.L201M|OPCML_ENST00000541867.1_Missense_Mutation_p.L242M NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 242 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCACAGCTCAGGATGCCCTTC 0.502000 3 33 6.4e-05 7.31429e-05 1 1 0 KCNN3 3782 broad.mit.edu 37 1 154841694 154841694 + Silent SNP G G A TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr1:154841694G>A ENST00000271915.3 - 1 1062 c.747C>T c.(745-747)acC>acT p.T249T NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 254 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TGCTGCTGGCGGTGGTGCCGG 0.582000 5 54 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10729651 10729651 + Missense_Mutation SNP A A C TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr16:10729651A>C ENST00000283025.2 - 6 1282 c.1211T>G c.(1210-1212)aTg>aGg p.M404R TEKT5_ENST00000574923.1_5'UTR NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 404 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GCACAGCTCCATGTTGGGGCG 0.622000 14 95 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 4 27 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48390281 48390281 + Missense_Mutation SNP C C T TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr7:48390281C>T ENST00000435803.1 + 30 10270 c.10246C>T c.(10246-10248)Cgc>Tgc p.R3416C NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3416 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGGCGCTGGACGCTTCCGTTT 0.527000 3 54 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19338368 19338368 + Missense_Mutation SNP C C A TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr19:19338368C>A ENST00000252575.5 + 8 1982 c.1939C>A c.(1939-1941)Ccc>Acc p.P647T NCAN_ENST00000538881.1_Missense_Mutation_p.P98T NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 647 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GCTACCACACCCCACCCCCAT 0.632000 3 43 0.115264 0.115264 1 1 0 ATP5G3 518 broad.mit.edu 37 2 176043113 176043113 + Missense_Mutation SNP T T C TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr2:176043113T>C ENST00000284727.4 - 5 3356 c.332A>G c.(331-333)cAg>cGg p.Q111R ATP5G3_ENST00000392541.3_Missense_Mutation_p.Q111R|ATP5G3_ENST00000409194.1_Missense_Mutation_p.Q111R NM_001002258.4|NM_001689.4 NP_001002258.1|NP_001680.1 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 111 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.147) GAACAGCTGCTGCTTCAGCGA 0.363000 7 56 0 0 1 0 0 MORN4 118812 broad.mit.edu 37 10 99377062 99377062 + Missense_Mutation SNP C C T TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr10:99377062C>T ENST00000335628.3 - 2 258 c.259G>A c.(259-261)Ggt>Agt p.G87S PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.G29S|MORN4_ENST00000478953.1_Missense_Mutation_p.G29S|PI4K2A_ENST00000555577.1_Intron Q8NDC4 MORN4_HUMAN MORN repeat containing 4 29 large_intestine(1)|lung(1)|stomach(2) 4 ATCAGTTGACCAAAACCATGC 0.498000 12 75 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25266991 25266991 + Missense_Mutation SNP G G A TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr13:25266991G>A ENST00000218548.6 + 10 1685 c.1352G>A c.(1351-1353)cGa>cAa p.R451Q ATP12A_ENST00000381946.3_Missense_Mutation_p.R445Q NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 445 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.R445L(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TTGTGTAACCGAGCAGAGTTC 0.463000 22 131 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127512145 127512145 + Missense_Mutation SNP C C G rs138579130 TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr10:127512145C>G ENST00000299130.3 + 1 31 c.19C>G c.(19-21)Cgg>Ggg p.R7G BCCIP_ENST00000429863.2_Missense_Mutation_p.R7G|BCCIP_ENST00000368759.5_Missense_Mutation_p.R7G|BCCIP_ENST00000278100.6_Missense_Mutation_p.R7G NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 7 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAGGTCTAAGCGGCGTGCCGT 0.612000 14 60 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77406832 77406832 + Missense_Mutation SNP C C T TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr15:77406832C>T ENST00000560626.2 - 7 5382 c.4907G>A c.(4906-4908)cGg>cAg p.R1636Q PEAK1_ENST00000312493.4_Missense_Mutation_p.R1636Q Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1636 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding CTGCAGACCCCGGGAGTAGGG 0.602000 6 24 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179310184 179310184 + Translation_Start_Site SNP C C A TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr1:179310184C>A ENST00000535686.1 + 0 482 SOAT1_ENST00000540564.1_Silent_p.L115L|SOAT1_ENST00000367619.3_Silent_p.L173L|SOAT1_ENST00000539888.1_Silent_p.L108L P35610 SOAT1_HUMAN sterol O-acyltransferase 1 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) AGTTCAGCCTCCTGTCTTATG 0.393000 9 40 0.00448238 0.00488987 1 1 0 MYH2 4620 broad.mit.edu 37 17 10428898 10428898 + Silent SNP C C T rs144654838 TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr17:10428898C>T ENST00000245503.5 - 32 4791 c.4407G>A c.(4405-4407)acG>acA p.T1469T CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.T1469T|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1469 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTCAGCATGCGTTTCCTCAC 0.463000 9 42 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12845101 12845101 + Silent SNP C C T TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr3:12845101C>T ENST00000456430.2 + 2 224 c.183C>T c.(181-183)aaC>aaT p.N61N CAND2_ENST00000295989.5_Silent_p.N61N NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 61 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGGACAAGAACGGTGAGGTGC 0.622000 4 36 0 0 1 0 0 HNRNPKP3 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 2 4 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 118112112 118112112 + Frame_Shift_Del DEL G G - TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr12:118112112delG ENST00000302438.5 - 2 52 c.53delC c.(52-54)cafs p.P18fs KSR2_ENST00000339824.5_Intron|KSR2_ENST00000425217.1_Intron|KSR2_ENST00000545002.1_5'UTR Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 0 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) cctcctcgctggaatcgcaga 0.418 2 4 --- --- --- --- KTN1-AS1 0 broad.mit.edu 37 14 56014172 56014174 + RNA DEL AAG AAG - rs72015246 TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr14:56014172_56014174delAAG ENST00000554558.1 - 0 364 aaaaaaaaaaaagaaTTGGCACA 0.443 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-EJ-A8FO-01A-21D-A364-08 TCGA-EJ-A8FO-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bc618f-218f-4eb3-a7f9-ad32524a0be0 109b048e-6856-44d8-a162-3d4c46493327 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 4 5 --- --- --- ---