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 PLCH2 9651 broad.mit.edu 37 1 2411659 2411659 + Missense_Mutation SNP G G T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr1:2411659G>T ENST00000449969.1 + 4 633 c.472G>T c.(472-474)Ggg>Tgg p.G158W PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000419816.2_Missense_Mutation_p.G185W O75038 PLCH2_HUMAN phospholipase C, eta 2 185 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.G185W(1)|p.G32W(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CGACAAGAACGGGGATGGCAG 0.617 36 100 --- --- --- --- VAV3 10451 broad.mit.edu 37 1 108247662 108247662 + Silent SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr1:108247662A>G ENST00000370056.4 - 16 1798 c.1524T>C c.(1522-1524)taT>taC p.Y508Y VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000527011.1_Silent_p.Y508Y|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 508 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.Y508Y(2)|p.Y508*(1) NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TGGAGTCTGCATAGTCTGGTC 0.403 3 133 --- --- --- --- MSH6 2956 broad.mit.edu 37 2 48026269 48026269 + Missense_Mutation SNP A A G rs63751304 TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:48026269A>G ENST00000234420.5 + 4 1299 c.1147A>G c.(1147-1149)Agg>Ggg p.R383G MSH6_ENST00000540021.1_Missense_Mutation_p.R253G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.R383G(2)|p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGATGAGCACAGGAGGAGGCC 0.478 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 47 110 --- --- --- --- PROM2 150696 broad.mit.edu 37 2 95944760 95944760 + Missense_Mutation SNP C C A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:95944760C>A ENST00000317620.9 + 10 1275 c.1142C>A c.(1141-1143)cCg>cAg p.P381Q PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 381 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane p.P381Q(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GCCCAGCAGCCGGAAGGGGTG 0.662 3 99 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170663358 170663358 + Missense_Mutation SNP G G T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:170663358G>T ENST00000409333.1 + 5 656 c.409G>T c.(409-411)Gta>Tta p.V137L SSB_ENST00000260956.4_Missense_Mutation_p.V137L P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 137 RRM. histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding p.V137L(1) endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TAAAGGTCAAGTACTAAATAT 0.299 5 165 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179472383 179472383 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:179472383C>T ENST00000589042.1 - 277 53256 c.53032G>A c.(53032-53034)Gtc>Atc p.V17678I TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN_ENST00000591111.1_Missense_Mutation_p.V16037I|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16037 Fibronectin type-III 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCACCCTTGACAGAAACATCC 0.428 79 116 --- --- --- --- ZDBF2 57683 broad.mit.edu 37 2 207170939 207170939 + Missense_Mutation SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr2:207170939C>T ENST00000374423.3 + 5 2073 c.1687C>T c.(1687-1689)Cgg>Tgg p.R563W NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 563 nucleic acid binding|zinc ion binding p.R563W(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AACAAAACTTCGGAAGAAGGC 0.438 27 47 --- --- --- --- BRPF1 7862 broad.mit.edu 37 3 9788936 9788936 + Missense_Mutation SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr3:9788936A>G ENST00000383829.2 + 14 3970 c.3566A>G c.(3565-3567)aAc>aGc p.N1189S BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000457855.1_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 1183 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding p.N1189S(1) central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CGCAAGTCCAACATCCGCAAG 0.567 28 124 --- --- --- --- SLITRK3 22865 broad.mit.edu 37 3 164908014 164908014 + Missense_Mutation SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr3:164908014T>C ENST00000475390.1 - 2 1048 c.605A>G c.(604-606)gAc>gGc p.D202G SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 202 integral to membrane p.D202G(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TCCACGTAGGTCCAAATGGGT 0.408 HNSCC(40;0.11) 56 117 --- --- --- --- P4HA2 8974 broad.mit.edu 37 5 131531126 131531126 + Silent SNP C C A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:131531126C>A ENST00000401867.1 - 14 1987 c.1419G>T c.(1417-1419)ggG>ggT p.G473G P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000166534.4_Silent_p.G473G|P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2_ENST00000360568.3_Silent_p.G471G O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 473 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|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-proline 4-dioxygenase activity|protein binding p.G473G(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) AAATTGCAGCCCCCAGATCAG 0.493 32 79 --- --- --- --- TCOF1 6949 broad.mit.edu 37 5 149755319 149755319 + Silent SNP C C T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:149755319C>T ENST00000451292.1 + 12 1848 c.1740C>T c.(1738-1740)ccC>ccT p.P580P TCOF1_ENST00000504761.2_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000377797.3_Silent_p.P580P Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 580 skeletal system development nucleolus protein binding|transporter activity p.P580P(1)|p.P503P(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGCCAAACCCACCTCCAGTC 0.587 51 146 --- --- --- --- RANBP17 64901 broad.mit.edu 37 5 170395294 170395294 + Missense_Mutation SNP T T G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr5:170395294T>G ENST00000523189.1 + 14 1787 c.1623T>G c.(1621-1623)tgT>tgG p.C541W NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 541 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity p.C541W(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTCGATGTTGTAATGAGAAAA 0.343 T TRD@ ALL 17 187 --- --- --- --- GSTA2 2939 broad.mit.edu 37 6 52616466 52616466 + Missense_Mutation SNP T T A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr6:52616466T>A ENST00000493422.1 - 6 610 c.455A>T c.(454-456)aAg>aTg p.K152M NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 152 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.K152M(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) CCGGCTCAGCTTGTTGCCAAC 0.532 63 146 --- --- --- --- PNLDC1 154197 broad.mit.edu 37 6 160237001 160237001 + Splice_Site SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr6:160237001T>C ENST00000610273.1 + 13 1134 c.963T>C c.(961-963)agT>agC p.S321S PNLDC1_ENST00000392167.3_Splice_Site_p.S332S NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 integral to membrane|nucleus nucleic acid binding p.S321S(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTTCCAATAGTGACTTGAATC 0.378 5 126 --- --- --- --- NFE2L3 9603 broad.mit.edu 37 7 26224957 26224957 + Missense_Mutation SNP A A T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:26224957A>T ENST00000056233.3 + 4 1898 c.1639A>T c.(1639-1641)Atc>Ttc p.I547F NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 547 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.I547F(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 AGCTTTGCATATCCCTTTTTC 0.413 5 268 --- --- --- --- HIBADH 11112 broad.mit.edu 37 7 27565971 27565971 + Silent SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:27565971G>A ENST00000265395.2 - 8 1079 c.873C>T c.(871-873)gaC>gaT p.D291D NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 291 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity p.D291D(1) endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) TGGTAGCAGAGTCTTGTGCCA 0.468 13 45 --- --- --- --- ANLN 54443 broad.mit.edu 37 7 36435954 36435954 + Missense_Mutation SNP C C G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:36435954C>G ENST00000265748.2 + 2 319 c.98C>G c.(97-99)tCt>tGt p.S33C ANLN_ENST00000396068.2_Missense_Mutation_p.S33C NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 33 Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding p.S33C(1) breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 GCTCCAAGGTCTATGACTCAT 0.473 42 77 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77469597 77469597 + Missense_Mutation SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr7:77469597A>G ENST00000416283.2 + 1 151 c.25A>G c.(25-27)Ata>Gta p.I9V PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding p.I9V(2) endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 CACAGATGCTATAGTCTGGTA 0.318 73 125 --- --- --- --- ADAM9 8754 broad.mit.edu 37 8 38899534 38899534 + Missense_Mutation SNP C C A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr8:38899534C>A ENST00000487273.2 + 12 1278 c.1200C>A c.(1198-1200)aaC>aaA p.N400K NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 400 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding p.N400K(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) AAGGAGGAAACTGCCTTCTTA 0.408 7 121 --- --- --- --- SOX17 64321 broad.mit.edu 37 8 55371662 55371662 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr8:55371662G>A ENST00000297316.4 + 2 556 c.352G>A c.(352-354)Gtg>Atg p.V118M NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 118 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.V118M(1) endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GCGGCCCTTCGTGGAGGAGGC 0.687 4 7 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113657357 113657357 + Silent SNP A A T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr8:113657357A>T ENST00000297405.5 - 20 3535 c.3291T>A c.(3289-3291)gtT>gtA p.V1097V CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1097 CUB 6. integral to membrane|plasma membrane p.V1097V(2)|p.V1057V(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGGTTACATCAACAGTCCATG 0.363 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 112 --- --- --- --- GOLM1 51280 broad.mit.edu 37 9 88650293 88650293 + Silent SNP A A G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr9:88650293A>G ENST00000388712.3 - 8 1173 c.1005T>C c.(1003-1005)gcT>gcC p.A335A GOLM1_ENST00000388711.3_Silent_p.A335A NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 335 Golgi apparatus|integral to plasma membrane p.A335A(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CTTCCCCGGCAGCTTCCTGCT 0.622 OREG0019278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 180 --- --- --- --- KIF12 113220 broad.mit.edu 37 9 116858374 116858374 + Silent SNP C C A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr9:116858374C>A ENST00000374118.3 - 6 675 c.438G>T c.(436-438)ctG>ctT p.L146L KIF12_ENST00000473174.1_Intron NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 279 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.L146L(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CCTCAAGCATCAGCTCCCCAC 0.622 33 147 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15317865 15317865 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr10:15317865G>A ENST00000378116.4 - 3 413 c.407C>T c.(406-408)tCa>tTa p.S136L NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 136 integral to membrane p.S136L(2) 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 TTGGAATCCTGATACTATTTG 0.343 19 92 --- --- --- --- NCOA4 8031 broad.mit.edu 37 10 51584846 51584846 + Silent SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr10:51584846G>A ENST00000452682.1 + 9 1245 c.993G>A c.(991-993)cgG>cgA p.R331R NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000414907.2_Silent_p.R149R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000443446.1_Silent_p.R315R NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 315 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity p.R331R(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 ATAAGCTGCGGAAGCCTGAGA 0.453 T RET papillary thyroid 6 164 --- --- --- --- FGD4 121512 broad.mit.edu 37 12 32764089 32764089 + Silent SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr12:32764089T>C ENST00000427716.2 + 10 1634 c.1210T>C c.(1210-1212)Tta>Cta p.L404L FGD4_ENST00000266482.3_Silent_p.L156L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000534526.2_Silent_p.L541L NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 404 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|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.L404L(2) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AAAGAAACTCTTAGAGATTTA 0.353 4 196 --- --- --- --- PIWIL1 9271 broad.mit.edu 37 12 130845793 130845793 + Missense_Mutation SNP T T G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr12:130845793T>G ENST00000245255.3 + 15 2006 c.1734T>G c.(1732-1734)gaT>gaG p.D578E NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 578 Piwi.|RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding p.D578E(1) breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TGTGTACAGATTGCCCTACCC 0.433 30 76 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95862980 95862980 + Missense_Mutation SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr13:95862980T>C ENST00000376887.4 - 5 701 c.587A>G c.(586-588)aAt>aGt p.N196S ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 196 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity p.N196S(3) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GGACAGCAGATTGACTATCTG 0.418 12 86 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63978653 63978653 + Missense_Mutation SNP G G C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr15:63978653G>C ENST00000443617.2 - 34 6217 c.6130C>G c.(6130-6132)Cta>Gta p.L2044V RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2044 B30.2/SPRY. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity p.L2044V(3) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TTCTCCACTAGGCAACACTGA 0.473 7 439 --- --- --- --- RBFOX1 54715 broad.mit.edu 37 16 7657342 7657342 + Splice_Site SNP T T G TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr16:7657342T>G ENST00000340209.4 + 7 988 c.e7+2 RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.?(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TCTATGCAGGTACAGAGTTTC 0.368 31 187 --- --- --- --- TMC7 79905 broad.mit.edu 37 16 19041572 19041572 + Silent SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr16:19041572T>C ENST00000421369.3 + 6 966 c.408T>C c.(406-408)ttT>ttC p.F136F TMC7_ENST00000569532.1_Silent_p.F246F|TMC7_ENST00000304381.5_Silent_p.F246F NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 246 integral to membrane p.F246F(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CTAGCCTCTTTTACGGACATT 0.507 7 283 --- --- --- --- SLC5A2 6524 broad.mit.edu 37 16 31499068 31499068 + Nonsense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr16:31499068G>A ENST00000330498.3 + 7 892 c.873G>A c.(871-873)tgG>tgA p.W291* AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 291 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity p.W291*(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GCTGGTACTGGTGCAGCGACC 0.721 10 33 --- --- --- --- PRPF8 10594 broad.mit.edu 37 17 1559946 1559946 + Missense_Mutation SNP A A C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:1559946A>C ENST00000572621.1 - 34 5880 c.5615T>G c.(5614-5616)cTg>cGg p.L1872R PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1872 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding p.L1872R(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCTTACCTCCAGTGGGTCCAG 0.552 24 40 --- --- --- --- XAF1 54739 broad.mit.edu 37 17 6673970 6673970 + Silent SNP T T C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:6673970T>C ENST00000361842.3 + 6 755 c.516T>C c.(514-516)tgT>tgC p.C172C XAF1_ENST00000441631.1_Silent_p.C172C|XAF1_ENST00000346752.4_Silent_p.C153C NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 172 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding p.C172C(1) large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 AGGGTAAATGTTGTCCAGACT 0.348 7 187 --- --- --- --- GH2 2689 broad.mit.edu 37 17 61958402 61958402 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr17:61958402G>A ENST00000332800.7 - 3 411 c.278C>T c.(277-279)aCg>aTg p.T93M GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000449787.2_Missense_Mutation_p.T78M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 93 extracellular region hormone activity p.T93M(6) breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 TTTCTGCTGCGTTTTCACCCT 0.572 82 364 --- --- --- --- S1PR2 9294 broad.mit.edu 37 19 10335297 10335297 + Silent SNP A A T TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr19:10335297A>T ENST00000590320.1 - 2 395 c.285T>A c.(283-285)tcT>tcA p.S95S NM_004230.3 NP_004221.3 O95136 S1PR2_HUMAN sphingosine-1-phosphate receptor 2 95 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity p.S95S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 TCAGCGTGACAGAGCCAGAGA 0.612 9 42 --- --- --- --- LILRA3 11026 broad.mit.edu 37 19 54803046 54803046 + Missense_Mutation SNP G G C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr19:54803046G>C ENST00000391745.1 - 8 998 c.682C>G c.(682-684)Ccc>Gcc p.P228A LILRA3_ENST00000251390.3_Missense_Mutation_p.P211A|LILRA3_ENST00000391744.3_Intron leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 p.P211A(1) NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGATCACTGGGTAGAGACCAC 0.617 4 77 --- --- --- --- MIR4485 100616263 broad.mit.edu 37 M 2817 2817 + RNA SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chrM:2817G>A ENST00000387347.2 + 0 1147 NR_039705.1 ATTTCGGTTGGGGCGACCTCG 0.433 8 4 --- --- --- --- MT-ND1 4535 broad.mit.edu 37 M 3526 3526 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chrM:3526G>A ENST00000361390.2 + 1 220 c.220G>A c.(220-222)Gcc>Acc p.A74T mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 TCTACATCACCGCCCCGACCT 0.542 6 19 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28387490 28387490 + Frame_Shift_Del DEL C C - TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr15:28387490delC ENST00000261609.7 - 76 11702 c.11594delG c.(11593-11595)tgtfs p.C3865fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3865 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGTCTCGGCACAGCAAGGCAG 0.547 8 51 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30732660 30732666 + Frame_Shift_Del DEL CAGGCTA CAGGCTA - TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr16:30732660_30732666delCAGGCTA ENST00000262518.4 + 21 3789_3795 c.3404_3410delCAGGCTA c.(3403-3411)ccaggctacfs p.PGY1135fs SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1135 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ACAGTGCCACCAGGCTACACCTTCCCT 0.623 10 202 --- --- --- --- C19orf53 28974 broad.mit.edu 37 19 13888971 13888971 + Frame_Shift_Del DEL A A - TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1b169c3-44e0-43e5-9ee3-2df7a678a5ea 69ebe1ab-c416-4473-8d82-91b475b206d4 g.chr19:13888971delA ENST00000588234.1 + 3 569 c.259delA c.(259-261)aaafs p.K87fs C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs NM_014047.2 NP_054766.1 Q9UNZ5 L10K_HUMAN chromosome 19 open reading frame 53 87 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) AGCCAAGAAGAAAGGGGCAGC 0.597 26 66 --- --- --- ---