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 TRPM1 4308 broad.mit.edu 37 15 31294278 31294278 + Missense_Mutation SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr15:31294278C>T ENST00000542188.1 - 27 4989 c.4676G>A c.(4675-4677)cGc>cAc p.R1559H RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1520H|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1542H NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1520 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TAGGGACAAGCGAGGGATTCG 0.443000 123 164 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28210813 28210813 + Silent SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr8:28210813G>A ENST00000344423.5 - 5 827 c.696C>T c.(694-696)ccC>ccT p.P232P ZNF395_ENST00000523202.1_Silent_p.P232P|ZNF395_ENST00000523095.1_Silent_p.P232P NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 232 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGGGGTGGGGGGGCGAGGGGG 0.617000 3 41 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45004684 45004684 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr7:45004684G>A ENST00000258787.7 - 18 2522 c.2386C>T c.(2386-2388)Cgg>Tgg p.R796W NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 796 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TGCCGGGCCCGCCACCTGGGA 0.637000 61 60 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19554592 19554592 + Missense_Mutation SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr3:19554592C>T ENST00000328405.2 + 13 2476 c.2210C>T c.(2209-2211)tCg>tTg p.S737L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 737 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GGATCTTCTTCGCGCAACAAG 0.547000 14 43 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111694646 111694646 + Missense_Mutation SNP T T C TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr6:111694646T>C ENST00000435970.1 - 15 5494 c.4678A>G c.(4678-4680)Agt>Ggt p.S1560G REV3L_ENST00000368802.3_Missense_Mutation_p.S1638G|REV3L_ENST00000358835.3_Missense_Mutation_p.S1638G|REV3L_ENST00000368805.1_Missense_Mutation_p.S1638G O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1638 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GGAGATAAACTATCTTCAAGT 0.338000 DNA polymerases (catalytic subunits) 10 16 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50241313 50241313 + Missense_Mutation SNP T T C TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr14:50241313T>C ENST00000298307.5 + 3 1129 c.268T>C c.(268-270)Tct>Cct p.S90P KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Missense_Mutation_p.S90P|KLHDC2_ENST00000554589.1_Missense_Mutation_p.S90P NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 90 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) TGTTCCTCCTTCTATGTCAGG 0.383000 6 238 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295989 20295989 + Missense_Mutation SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr14:20295989C>T ENST00000315947.1 + 1 382 c.382C>T c.(382-384)Cgg>Tgg p.R128W OR4N2_ENST00000568211.1_Missense_Mutation_p.R128W NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CGCCATCTGCCGGCCTCTGCA 0.522000 40 564 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639038 179639038 + Missense_Mutation SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr2:179639038C>T ENST00000589042.1 - 30 7177 c.6953G>A c.(6952-6954)cGt>cAt p.R2318H TTN_ENST00000360870.5_Missense_Mutation_p.R2318H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R2318H|TTN_ENST00000460472.2_Missense_Mutation_p.R2272H|TTN_ENST00000359218.5_Missense_Mutation_p.R2272H|TTN_ENST00000342992.6_Missense_Mutation_p.R2318H|TTN_ENST00000342175.6_Missense_Mutation_p.R2272H|TTN-AS1_ENST00000584485.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2033 Ig-like 12. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGACGTCCACGACGAGATGT 0.403000 37 70 0 0 1 0 0 COG1 9382 broad.mit.edu 37 17 71199844 71199844 + Missense_Mutation SNP C C A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr17:71199844C>A ENST00000299886.4 + 9 2374 c.2294C>A c.(2293-2295)cCa>cAa p.P765Q NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 765 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) CATGCCTTGCCAAAGGTGACA 0.428000 3 86 1 1 1 1 0 AFF2 2334 broad.mit.edu 37 X 148037365 148037365 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chrX:148037365G>A ENST00000370460.2 + 11 2269 c.1790G>A c.(1789-1791)cGt>cAt p.R597H AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H|AFF2_ENST00000342251.3_Missense_Mutation_p.R564H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 597 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.R597H(3)|p.R238H(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAAGCCCGTCCACGGCCC 0.468000 43 37 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998259 46998259 + Missense_Mutation SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr19:46998259C>T ENST00000599531.1 - 1 1496 c.464G>A c.(463-465)aGg>aAg p.R155K PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.L124L|PNMAL2_ENST00000377655.2_Missense_Mutation_p.R155K NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 155 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCTTGGGTTCCTGGCTGCCCC 0.667000 17 37 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873619 91873619 + Missense_Mutation SNP G G C TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chrX:91873619G>C ENST00000373094.1 + 7 4569 c.3724G>C c.(3724-3726)Gcc>Ccc p.A1242P PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1224P|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1232P|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1205P|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1205P|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1234P|PCDH11X_ENST00000504220.1_3'UTR NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1242 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACAGGCCTCAGCCCTCTGCTA 0.587000 3 113 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49701644 49701644 + Missense_Mutation SNP A A G TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr5:49701644A>G ENST00000303221.5 - 5 730 c.515T>C c.(514-516)gTa>gCa p.V172A EMB_ENST00000514111.1_Missense_Mutation_p.V122A|EMB_ENST00000508934.1_Missense_Mutation_p.V118A|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 172 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) AGAATCCCCTACGTAAGAGAT 0.348000 13 47 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19478814 19478814 + Missense_Mutation SNP T T C rs147127000 byFrequency TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:19478814T>C ENST00000375267.2 - 47 6992 c.6989A>G c.(6988-6990)aAc>aGc p.N2330S UBR4_ENST00000375254.3_Missense_Mutation_p.N2330S|UBR4_ENST00000375217.2_Missense_Mutation_p.N2330S|UBR4_ENST00000375226.2_Missense_Mutation_p.N2330S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2330 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TACCTTGGTGTTGGCCACATA 0.458000 17 371 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48573418 48573418 + Translation_Start_Site SNP T T A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr18:48573418T>A ENST00000342988.3 + 2 540 c.2T>A c.(1-3)aTg>aAg p.M1K RP11-729L2.2_ENST00000588256.1_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Start_Codon_SNP_p.M1K|SMAD4_ENST00000588745.1_Start_Codon_SNP_p.M1K|SMAD4_ENST00000452201.2_Start_Codon_SNP_p.M1K NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 1 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(5) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CTTGAACAAATGGACAATATG 0.363000 8 36 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987511 61987511 + Missense_Mutation SNP G G C TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr17:61987511G>C ENST00000450719.3 - 3 437 c.200C>G c.(199-201)gCa>gGa p.A67G CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.A78G Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GACCCCTGGTGCCACCCTCAC 0.572000 4 64 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198571055 198571055 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr2:198571055G>A ENST00000282276.6 + 1 969 c.926G>A c.(925-927)gGt>gAt p.G309D AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 309 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) CATATCATAGGTAAGGACATT 0.517000 33 97 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38095422 38095422 + Silent SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr21:38095422C>T ENST00000290399.6 + 5 1147 c.534C>T c.(532-534)agC>agT p.S178S SIM2_ENST00000430056.3_Silent_p.S178S NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 178 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 TGACCTGCAGCGGATACAAGG 0.532000 29 75 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 32 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237185 140237185 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr5:140237185G>A ENST00000307360.5 + 1 1552 c.1552G>A c.(1552-1554)Gcg>Acg p.A518T PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A518T 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) CAAGGTGTACGCGCTGCAGCC 0.682000 64 185 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 3 138 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367219 234367219 + Missense_Mutation SNP G G T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:234367219G>T ENST00000366618.3 + 3 485 c.340G>T c.(340-342)Gtg>Ttg p.V114L SLC35F3_ENST00000366617.3_Missense_Mutation_p.V45L NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 45 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) ACCGGCCGGGGTGGAGGCCGG 0.731000 8 23 2.61681e-11 2.94392e-11 1 1 0 NOS3 4846 broad.mit.edu 37 7 150695446 150695446 + Splice_Site SNP T T G TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr7:150695446T>G ENST00000297494.3 + 6 941 c.582_splice c.e6-1 p.V195_splice NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000484524.1_Splice_Site_p.V195_splice|NOS3_ENST00000467517.1_Splice_Site_p.V195_splice NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 195 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CTGGCTCAGGTGTTCGATGCC 0.612000 6 30 0 0 1 0 0 ESM1 11082 broad.mit.edu 37 5 54281255 54281255 + Missense_Mutation SNP G G T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr5:54281255G>T ENST00000381405.4 - 1 236 c.91C>A c.(91-93)Cac>Aac p.H31N ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Missense_Mutation_p.H31N NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 31 IGFBP N-terminal. angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) CTGTCACAGTGTTGAGGGCAG 0.612000 5 90 0.00116845 0.00125191 1 1 0 CDC40 51362 broad.mit.edu 37 6 110501725 110501725 + Silent SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr6:110501725C>T ENST00000368932.1 + 2 179 c.78C>T c.(76-78)agC>agT p.S26S CDC40_ENST00000368930.1_Silent_p.S26S|CDC40_ENST00000307731.1_Silent_p.S26S|CDC40_ENST00000368933.1_Silent_p.S26S O60508 PRP17_HUMAN cell division cycle 40 26 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) ACAGTGAGAGCAGTCGGTGTC 0.597000 19 45 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12010521 12010521 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:12010521G>A ENST00000196061.4 + 4 437 c.410G>A c.(409-411)aGg>aAg p.R137K PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.R184K NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 137 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CCAGACCGCAGGCTGGAGACC 0.647000 5 58 0 0 1 0 0 FAM218A 152756 broad.mit.edu 37 4 165878576 165878576 + Silent SNP T T C TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr4:165878576T>C ENST00000513876.2 + 1 477 c.402T>C c.(400-402)ccT>ccC p.P134P TRIM61_ENST00000329314.5_Intron NM_153027.1 NP_694572.1 Q96MZ4 CD039_HUMAN family with sequence similarity 218, member A 134 GGTCCCAGCCTCTTTTTGTGA 0.572000 3 82 0 0 1 0 0 PPWD1 23398 broad.mit.edu 37 5 64881965 64881965 + Missense_Mutation SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr5:64881965C>T ENST00000261308.5 + 10 1826 c.1754C>T c.(1753-1755)tCa>tTa p.S585L PPWD1_ENST00000538977.1_Missense_Mutation_p.S429L|PPWD1_ENST00000535264.1_Missense_Mutation_p.S555L NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 585 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) AACGCGGGATCAAATACTAAT 0.393000 14 87 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68118525 68118525 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr15:68118525G>A ENST00000380035.2 + 2 417 c.359G>A c.(358-360)cGc>cAc p.R120H SKOR1_ENST00000554054.1_Missense_Mutation_p.R92H|SKOR1_ENST00000389002.1_Missense_Mutation_p.R111H|SKOR1_ENST00000341418.5_Missense_Mutation_p.R306H|SKOR1_ENST00000554240.1_Missense_Mutation_p.R81H P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 120 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 CACAACCGCCGCGTGGCCCTG 0.637000 13 51 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26692923 26692923 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr22:26692923G>A ENST00000529632.2 + 4 1235 c.1039G>A c.(1039-1041)Gtc>Atc p.V347I SEZ6L_ENST00000343706.4_Missense_Mutation_p.V347I|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V347I|SEZ6L_ENST00000402979.1_Missense_Mutation_p.V120I|SEZ6L_ENST00000248933.6_Missense_Mutation_p.V347I|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V347I|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V120I NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 347 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TACCCTGACCGTCCTGGCCAA 0.617000 18 49 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001910 177001910 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:177001910G>A ENST00000367654.2 - 3 560 c.547C>T c.(547-549)Cgc>Tgc p.R183C ASTN1_ENST00000424564.2_Missense_Mutation_p.R183C|ASTN1_ENST00000367657.3_Missense_Mutation_p.R183C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R183C|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 183 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ACCCGGCGGCGTTTGCACCAG 0.602000 11 69 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr17:39274424G>C ENST00000391413.2 - 1 182 c.144C>G c.(142-144)agC>agG p.S48R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(2) 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) GCCTGCAGCAGCTGGACACAC 0.672000 6 127 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248789976 248789976 + Missense_Mutation SNP C C T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:248789976C>T ENST00000330803.2 - 1 515 c.454G>A c.(454-456)Gat>Aat p.D152N NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGAAAGCCATCGAGGGAGCCC 0.527000 12 19 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51728620 51728620 + Missense_Mutation SNP C C T rs138300409 byFrequency TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr19:51728620C>T ENST00000262262.4 + 2 205 c.184C>T c.(184-186)Cgg>Tgg p.R62W CD33_ENST00000391796.3_Missense_Mutation_p.R62W|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 62 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TTACTGGTTCCGGGAAGGAGC 0.537000 5 128 0 0 1 0 0 E2F7 144455 broad.mit.edu 37 12 77424046 77424046 + Missense_Mutation SNP G G T TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr12:77424046G>T ENST00000322886.7 - 10 1684 c.1449C>A c.(1447-1449)ttC>ttA p.F483L E2F7_ENST00000416496.2_Missense_Mutation_p.F483L NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 483 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 AGAGGACAGGGAAAGGAGCAA 0.473000 53 185 5.00936e-31 5.78003e-31 1 1 0 FCRL3 115352 broad.mit.edu 37 1 157668197 157668197 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:157668197G>A ENST00000368184.3 - 4 566 c.275C>T c.(274-276)gCc>gTc p.A92V FCRL3_ENST00000368186.5_Missense_Mutation_p.A92V NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 92 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CACATGCACGGCATCACTGAG 0.473000 6 109 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370836 35370836 + Missense_Mutation SNP G G A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:35370836G>A ENST00000373347.1 - 3 417 c.149C>T c.(148-150)cCg>cTg p.P50L DLGAP3_ENST00000495979.1_5'UTR|DLGAP3_ENST00000235180.4_Missense_Mutation_p.P50L O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 50 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.P50L(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCCAGCTCTCGGGGCACAGAA 0.687000 4 8 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11945256 11945256 + Silent SNP C C A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr2:11945256C>A ENST00000256720.2 + 16 2208 c.2115C>A c.(2113-2115)atC>atA p.I705I LPIN1_ENST00000449576.2_Silent_p.I790I|LPIN1_ENST00000396097.1_Silent_p.I435I|LPIN1_ENST00000396099.1_Silent_p.I747I|LPIN1_ENST00000404113.2_Silent_p.I206I|LPIN1_ENST00000425416.2_Silent_p.I711I NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 705 C-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) ATCAGGGCATCGCTAAGCTGT 0.468000 3 80 0.014758 0.0150934 1 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204429716 204429716 + Missense_Mutation SNP T T A TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr1:204429716T>A ENST00000367187.3 - 7 1940 c.1384A>T c.(1384-1386)Atg>Ttg p.M462L PIK3C2B_ENST00000424712.2_Missense_Mutation_p.M462L NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 462 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TTCTGCTCCATCAGCTGTAGC 0.547000 14 134 0 0 1 0 0 POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 2 4 --- --- --- --- VPS37A 137492 broad.mit.edu 37 8 17104764 17104764 + Frame_Shift_Del DEL T T - TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr8:17104764delT ENST00000324849.4 + 1 685 c.11delT c.(10-12)ctfs p.L4fs VPS37A_ENST00000521829.1_Frame_Shift_Del_p.L4fs|VPS37A_ENST00000324815.3_Frame_Shift_Del_p.L4fs|VPS37A_ENST00000521005.1_Frame_Shift_Del_p.L4fs NM_001145152.1|NM_152415.2 NP_001138624.1|NP_689628.2 Q8NEZ2 VP37A_HUMAN vacuolar protein sorting 37 homolog A (S. cerevisiae) 4 cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 10 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) ATGAGCTGGCTTTTTCCCCTG 0.697 2 4 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr8:139809072delT ENST00000303045.6 - 12 2032 c.1586delA c.(1585-1587)agfs p.K529fs COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 529 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCACCCTTTTCCCCTTG 0.463 HNSCC(7;0.00092) 7 409 --- --- --- --- SCRIB 23513 broad.mit.edu 37 8 144896281 144896281 + Frame_Shift_Del DEL A A - TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr8:144896281delA ENST00000356994.2 - 2 173 c.167delT c.(166-168)tcfs p.F56fs SCRIB_ENST00000320476.3_Frame_Shift_Del_p.F56fs|SCRIB_ENST00000377533.3_5'UTR NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 56 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CAGCAGCCGGAAAAAAGGCTG 0.602 2 4 --- --- --- --- AMBRA1 55626 broad.mit.edu 37 11 46563495 46563496 + Splice_Site DEL CT CT - TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chr11:46563495_46563496delCT ENST00000458649.2 - 7 2489_2490 c.2072_splice c.e7+1 p.R692_splice AMBRA1_ENST00000298834.3_Splice_Site_p.R692_splice|AMBRA1_ENST00000528950.1_Splice_Site_p.R691_splice|AMBRA1_ENST00000426438.1_Splice_Site_p.R691_splice|AMBRA1_ENST00000314845.3_Splice_Site_p.R602_splice|AMBRA1_ENST00000534300.1_Splice_Site_p.R692_splice|AMBRA1_ENST00000533727.1_Splice_Site_p.R601_splice Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 692 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GACTGCTTACCTCCTGAGTGAA 0.480 8 181 --- --- --- --- PHKA2 5256 broad.mit.edu 37 X 18947408 18947408 + Frame_Shift_Del DEL C C - TCGA-55-8091-01A-11D-2238-08 TCGA-55-8091-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3892dc09-e9c1-4185-bf6f-f071db30fe57 f803321b-1361-451d-aba8-b60d678b225c g.chrX:18947408delC ENST00000379942.4 - 13 1927 c.1262delG c.(1261-1263)gtfs p.G421fs NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 421 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ATCGATTTCACCAGCGGCAAG 0.323 2 4 --- --- --- ---