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 HEPACAM2 253012 broad.mit.edu 37 7 92825189 92825189 + Nonsense_Mutation SNP G G T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr7:92825189G>T ENST00000440868.1 - 6 1216 c.1166C>A c.(1165-1167)tCg>tAg p.S389* HEPACAM2_ENST00000394468.2_Missense_Mutation_p.F409L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F397L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F432L|HEPACAM2_ENST00000492616.1_5'UTR A8MVW5 HECA2_HUMAN HEPACAM family member 2 0 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CATATATTCCGAAGTCATCCA 0.383000 28 38 8.58068e-18 8.95924e-18 1 1 0 CYP26B1 56603 broad.mit.edu 37 2 72360210 72360210 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr2:72360210C>T ENST00000001146.2 - 5 1291 c.1088G>A c.(1087-1089)cGc>cAc p.R363H CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172H NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 363 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 CGTGAACAGGCGCATGACCTC 0.677000 15 20 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152469200 152469200 + Missense_Mutation SNP C C T rs148008634 byFrequency TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr6:152469200C>T ENST00000367255.5 - 137 25557 c.24956G>A c.(24955-24957)cGg>cAg p.R8319Q SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.R474Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8319Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2843Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R474Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7931Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8319 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACAGCTCCCCGGAGGTAGAA 0.493000 HNSCC(10;0.0054) 14 24 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34921914 34921914 + Missense_Mutation SNP A A G TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr21:34921914A>G ENST00000356577.4 + 3 852 c.377A>G c.(376-378)gAa>gGa p.E126G SON_ENST00000290239.6_Missense_Mutation_p.E126G|SON_ENST00000381679.4_Missense_Mutation_p.E126G|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E126G NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 126 E -> K (in Ref. 7; BAB14985). anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 aaagaaaaggaaaaaaaaTAT 0.303000 OREG0003562 type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 13 17 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247921335 247921335 + Missense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr1:247921335G>A ENST00000408896.2 - 1 647 c.374C>T c.(373-375)gCg>gTg p.A125V NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A125V(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GTGGCAAATCGCCACATATCT 0.502000 25 19 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 36 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55072877 55072877 + Missense_Mutation SNP G G A rs138036655 TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr17:55072877G>A ENST00000262288.3 + 8 722 c.667G>A c.(667-669)Gaa>Aaa p.E223K NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 223 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) GTCTCTTCTCGAAGACAAAGG 0.502000 5 55 0 0 1 0 0 SLC35G6 643664 broad.mit.edu 37 17 7385399 7385399 + Silent SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr17:7385399G>A ENST00000412468.2 + 2 211 c.96G>A c.(94-96)caG>caA p.Q32Q ZBTB4_ENST00000311403.4_Intron NM_001102614.1 NP_001096084.1 P0C7Q6 AMCL3_HUMAN solute carrier family 35, member G6 32 integral to membrane AGTGCTGCCAGCCCTCTGATG 0.662000 26 40 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14508027 14508027 + Missense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr3:14508027G>A ENST00000454876.2 + 7 1065 c.736G>A c.(736-738)Gtc>Atc p.V246I SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 246 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 CTTGCAGGTCGTCTACTTCAC 0.602000 27 41 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56504240 56504240 + Silent SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr12:56504240C>T ENST00000303305.6 + 8 1106 c.687C>T c.(685-687)ctC>ctT p.L229L RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.L229L NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 229 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) TGGATGTTCTCGTCAGCTCAG 0.403000 28 34 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101555560 101555560 + Missense_Mutation SNP T T G TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr15:101555560T>G ENST00000284395.5 + 13 1953 c.1553T>G c.(1552-1554)aTt>aGt p.I518S LRRK1_ENST00000388948.3_Missense_Mutation_p.I521S Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 521 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACGAAGCGTATTGCCTTTTTC 0.517000 OREG0023522 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 10 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9549244 9549244 + Silent SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr18:9549244G>A ENST00000400556.3 - 19 2713 c.2640C>T c.(2638-2640)aaC>aaT p.N880N PPP4R1_ENST00000400555.3_Silent_p.N863N NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 880 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 GCACTCGCACGTTAGGAACCC 0.478000 61 65 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104220415 104220415 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr14:104220415C>T ENST00000202556.9 - 6 905 c.623G>A c.(622-624)gGc>gAc p.G208D NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 208 Gln-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) ACACAGATTGCCGTTCATGAT 0.463000 4 162 0 0 1 0 0 FOXF1 2294 broad.mit.edu 37 16 86546529 86546529 + Splice_Site SNP A A G TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr16:86546529A>G ENST00000262426.4 + 2 1022 c.e2-1 NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 CTCGCCTTGCAGGCATCCCGC 0.627000 3 26 0 0 1 0 0 CHMP4B 128866 broad.mit.edu 37 20 32439895 32439895 + Missense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr20:32439895G>A ENST00000217402.2 + 4 661 c.496G>A c.(496-498)Gcg>Acg p.A166T NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 166 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 TGAGCTCATGGCGGAATTAGA 0.493000 11 114 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4286155 4286155 + Missense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr9:4286155G>A ENST00000381971.3 - 2 864 c.271C>T c.(271-273)Ctc>Ttc p.L91F NM_001042413.1 NP_001035878.1 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 325 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CCATTGGTGAGCATTTGTCTC 0.562000 33 50 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 33 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151123361 151123361 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chrX:151123361C>T ENST00000370328.3 - 9 1386 c.1333G>A c.(1333-1335)Gcc>Acc p.A445T GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR NM_004961.3 NP_004952.2 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 445 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCACAGCAGGCCAGCTTGGAG 0.617000 21 22 0 0 1 0 0 PITX1 5307 broad.mit.edu 37 5 134364859 134364859 + Silent SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr5:134364859G>A ENST00000265340.7 - 3 971 c.555C>T c.(553-555)gcC>gcT p.A185A PITX1_ENST00000506438.1_Silent_p.A185A NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 185 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) GGCTCTTGGCGGCCCAGTTGT 0.632000 16 41 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 13 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35496240 35496240 + Translation_Start_Site SNP T T C TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr1:35496240T>C ENST00000357182.4 - 2 228 c.1A>G c.(1-3)Atg>Gtg p.M1V ZMYM6_ENST00000373340.2_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000317538.5_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373333.1_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000487874.1_Start_Codon_SNP_p.M1V NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 1 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GGTTCTTTCATTCTAATTTTT 0.388000 39 6 0 0 1 0 0 FSTL3 10272 broad.mit.edu 37 19 681421 681421 + Silent SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr19:681421G>A ENST00000166139.4 + 4 626 c.594G>A c.(592-594)gcG>gcA p.A198A FSTL3_ENST00000592947.1_3'UTR NM_005860.2 NP_005851.1 O95633 FSTL3_HUMAN follistatin-like 3 (secreted glycoprotein) 198 Kazal-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCGAGCGGCGCCCTGCCCTG 0.692000 T CCND1 B-CLL 5 6 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065004 23065004 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr20:23065004C>T ENST00000246006.4 - 1 1973 c.1826G>A c.(1825-1827)cGg>cAg p.R609Q NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 609 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CTTCGCTCTCCGCTTGCGATA 0.577000 68 86 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25304728 25304728 + RNA SNP C C G TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr15:25304728C>G ENST00000549804.2 + 0 121 SNHG14_ENST00000384733.1_RNA CTTGGAAAAGCTGAACAAAAT 0.512000 43 74 0 0 1 0 0 OSR2 116039 broad.mit.edu 37 8 99962883 99962883 + Splice_Site SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr8:99962883G>A ENST00000297565.4 + 3 1152 c.e3-1 OSR2_ENST00000435298.2_Splice_Site|OSR2_ENST00000457907.2_Splice_Site|OSR2_ENST00000522510.1_Splice_Site|OSR2_ENST00000523368.1_Splice_Site NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding p.?(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) TTGATTTTCAGATACATCCAT 0.358000 6 8 0 0 1 0 0 HCCS 3052 broad.mit.edu 37 X 11133053 11133053 + Missense_Mutation SNP C C A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chrX:11133053C>A ENST00000321143.4 + 3 401 c.199C>A c.(199-201)Ccc>Acc p.P67T HCCS_ENST00000380762.4_Missense_Mutation_p.P67T|HCCS_ENST00000380763.3_Missense_Mutation_p.P67T NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 67 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 CGTGGAGTGTCCCATTAGGGG 0.498000 43 56 1.41504e-22 1.49951e-22 1 1 0 PTGES2 80142 broad.mit.edu 37 9 130885212 130885212 + Splice_Site SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr9:130885212C>T ENST00000338961.6 - 5 1632 c.e5+1 PTGES2_ENST00000277462.5_Splice_Site NM_001256335.1|NM_025072.6 NP_001243264.1|NP_079348.1 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(2) 4 CACACACTTGCCTGCTCTTGA 0.642000 15 22 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 21 38 0 0 1 0 0 KIAA0020 9933 broad.mit.edu 37 9 2829886 2829886 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr9:2829886C>T ENST00000397885.2 - 8 946 c.740G>A c.(739-741)cGg>cAg p.R247Q KIAA0020_ENST00000469168.1_5'UTR NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 247 PUM-HD. endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) TTCCGCATGCCGCAGCATCTT 0.433000 56 124 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232626742 232626742 + Nonsense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr1:232626742G>A ENST00000366630.1 - 4 2042 c.1684C>T c.(1684-1686)Cga>Tga p.R562* SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R562*|SIPA1L2_ENST00000486472.1_5'UTR Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 562 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGTAGTCCTCGTGCGGTACCA 0.458000 10 39 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21348256 21348256 + Missense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr22:21348256G>A ENST00000215739.8 + 13 1756 c.1397G>A c.(1396-1398)cGg>cAg p.R466Q LZTR1_ENST00000389355.3_Missense_Mutation_p.R447Q|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 466 BTB 1. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTCACAGCGCGGAGCCGCTGG 0.647000 12 15 0 0 1 0 0 PHF15 0 broad.mit.edu 37 5 133914911 133914911 + Silent SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr5:133914911C>T ENST00000395003.1 + 11 2456 c.2277C>T c.(2275-2277)agC>agT p.S759S PHF15_ENST00000361895.2_Silent_p.S760S|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Silent_p.S803S NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 759 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGGAGATGAGCGACTCAGATG 0.617000 24 27 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128706646 128706646 + Missense_Mutation SNP G G T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr3:128706646G>T ENST00000265068.5 - 4 647 c.480C>A c.(478-480)gaC>gaA p.D160E KIAA1257_ENST00000511438.1_Missense_Mutation_p.D160E|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D48E NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 160 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 CCCAGGCTTTGTCACCTTCGT 0.453000 9 10 3.09899e-07 3.14326e-07 1 1 0 ATP2B3 492 broad.mit.edu 37 X 152845601 152845601 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chrX:152845601C>T ENST00000263519.4 + 20 3634 c.3508C>T c.(3508-3510)Cgc>Tgc p.R1170C ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R1170C|ATP2B3_ENST00000370181.2_3'UTR NM_001001344.2 NP_001001344.1 Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1170 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding p.R1170C(1) NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAACGAGGAGCGCCTCCGGGC 0.592000 67 68 0 0 1 0 0 NPVF 64111 broad.mit.edu 37 7 25266332 25266332 + Missense_Mutation SNP G G C TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr7:25266332G>C ENST00000222674.2 - 2 498 c.452C>G c.(451-453)tCc>tGc p.S151C NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 151 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 TGAATGCATGGATCCTTGACA 0.468000 62 92 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880752 200880752 + Silent SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr1:200880752C>T ENST00000367342.4 + 9 1586 c.1386C>T c.(1384-1386)tcC>tcT p.S462S C1orf106_ENST00000413687.2_Silent_p.S377S NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 462 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTGACGTCTCCAGCATCTCCC 0.667000 49 72 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603654 5603654 + Silent SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr12:5603654C>T ENST00000423158.3 + 2 525 c.313C>T c.(313-315)Ctg>Ttg p.L105L NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Silent_p.L92L NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 92 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 GGACACCGAACTGCTGCGACA 0.632000 29 31 0 0 1 0 0 WIPI2 26100 broad.mit.edu 37 7 5256279 5256279 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr7:5256279C>T ENST00000288828.4 + 5 699 c.467C>T c.(466-468)cCa>cTa p.P156L WIPI2_ENST00000401525.3_Missense_Mutation_p.P138L|WIPI2_ENST00000404704.3_Missense_Mutation_p.P156L|WIPI2_ENST00000484262.1_Missense_Mutation_p.P97L|WIPI2_ENST00000382384.2_Missense_Mutation_p.P138L NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 156 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) GAGACGCCTCCAAACCCTGCA 0.463000 16 21 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2161835 2161835 + Silent SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr16:2161835G>A ENST00000262304.4 - 15 3541 c.3333C>T c.(3331-3333)ttC>ttT p.F1111F PKD1_ENST00000423118.1_Silent_p.F1111F NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1111 PKD 5. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCAGGTTCTCGAAGGCATTAG 0.706000 4 14 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134898495 134898495 + Silent SNP T T C TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr10:134898495T>C ENST00000607359.1 + 8 1557 c.1557T>C c.(1555-1557)cgT>cgC p.R519R Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AACAGGAACGTATCCTCCGCC 0.532000 46 68 0 0 1 0 0 AIFM2 84883 broad.mit.edu 37 10 71880314 71880314 + Silent SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr10:71880314C>T ENST00000307864.1 - 5 669 c.456G>A c.(454-456)tcG>tcA p.S152S AIFM2_ENST00000373248.1_Silent_p.S152S NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 152 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 CCACTCCAGCCGAGCCTCCTC 0.522000 39 73 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72916252 72916252 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr17:72916252C>T ENST00000319642.1 - 2 861 c.679G>A c.(679-681)Ggc>Agc p.G227S NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 227 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) GTGCCTTCGCCGCCCTGCTTG 0.692000 22 30 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43010826 43010826 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr6:43010826C>T ENST00000535468.1 - 18 3786 c.3700G>A c.(3700-3702)Gtg>Atg p.V1234M CUL7_ENST00000265348.3_Missense_Mutation_p.V1150M NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1150 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TTCTCCACCACGGCCCGCCAA 0.602000 11 18 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44683423 44683423 + Silent SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr3:44683423G>A ENST00000396058.1 + 5 968 c.801G>A c.(799-801)gtG>gtA p.V267V ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.V267V O14709 ZN197_HUMAN zinc finger protein 197 267 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) ATGAGGAGGTGACATCAAAGC 0.413000 4 13 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20666311 20666311 + Nonsense_Mutation SNP A A T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr14:20666311A>T ENST00000357366.3 + 1 817 c.817A>T c.(817-819)Aga>Tga p.R273* NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) AGCTGGGAGAAGAAAGGCTTT 0.517000 10 149 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45931164 45931164 + Missense_Mutation SNP C C A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr22:45931164C>A ENST00000348697.2 + 8 1016 c.869C>A c.(868-870)cCc>cAc p.P290H FBLN1_ENST00000402984.3_Missense_Mutation_p.P328H|FBLN1_ENST00000340923.5_Missense_Mutation_p.P290H|FBLN1_ENST00000327858.6_Missense_Mutation_p.P290H|FBLN1_ENST00000262722.7_Missense_Mutation_p.P290H|FBLN1_ENST00000442170.2_Missense_Mutation_p.P290H P23142 FBLN1_HUMAN fibulin 1 290 EGF-like 3; calcium-binding (Potential). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CGCTGCCGACCCAAGCTACAG 0.483000 22 38 3.62473e-10 3.7298e-10 1 1 0 CHD1 1105 broad.mit.edu 37 5 98207864 98207864 + Missense_Mutation SNP A A G rs150956514 by1000genomes TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr5:98207864A>G ENST00000284049.3 - 27 3901 c.3752T>C c.(3751-3753)aTa>aCa p.I1251T NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1251 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GCCCCAGTCTATATCAAAATG 0.348000 5 71 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88938593 88938593 + Missense_Mutation SNP T T C TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr14:88938593T>C ENST00000556564.1 - 15 3150 c.2866A>G c.(2866-2868)Att>Gtt p.I956V PTPN21_ENST00000328736.3_Missense_Mutation_p.I956V NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 956 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTCACCTTAATATGTGATGCG 0.373000 21 19 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887505 23887505 + Silent SNP A A C TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr14:23887505A>C ENST00000355349.3 - 30 4245 c.4083T>G c.(4081-4083)ctT>ctG p.L1361L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1361 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.L1361L(1) 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) TGGCCTTGGAAAGGACGCGCT 0.652000 4 71 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156785835 156785835 + Missense_Mutation SNP A A G TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr1:156785835A>G ENST00000392306.2 - 2 225 c.86T>C c.(85-87)aTg>aCg p.M29T NTRK1_ENST00000392302.2_Intron|SH2D2A_ENST00000368198.3_Missense_Mutation_p.M11T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.M29T|SH2D2A_ENST00000495306.1_5'UTR NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 29 angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTGCGGGTCATGTCTGTGAT 0.612000 13 8 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72122614 72122614 + Silent SNP T T C TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr15:72122614T>C ENST00000356056.5 - 40 7348 c.6876A>G c.(6874-6876)ccA>ccG p.P2292P MYO9A_ENST00000564571.1_Silent_p.P2292P|MYO9A_ENST00000444904.1_Silent_p.P2273P|MYO9A_ENST00000424560.1_Silent_p.P2363P NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2292 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CAGGAGACGATGGACCTGGAT 0.468000 42 32 0 0 1 0 0 FGF14 2259 broad.mit.edu 37 13 103053948 103053948 + Silent SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr13:103053948C>T ENST00000376131.4 - 1 176 c.81G>A c.(79-81)agG>agA p.R27R RP11-811P12.3_ENST00000418923.2_RNA NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 0 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTTAGACACCCTGAGAAAGA 0.413000 22 53 0 0 1 0 0 PPP1R42 286187 broad.mit.edu 37 8 67923054 67923054 + Missense_Mutation SNP T T A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr8:67923054T>A ENST00000522909.1 - 5 632 c.448A>T c.(448-450)Ata>Tta p.I150L PPP1R42_ENST00000324682.5_Missense_Mutation_p.I150L Q7Z4L9 LRC67_HUMAN protein phosphatase 1, regulatory subunit 42 150 ATATTCAATATACAGAGGGAT 0.308000 24 24 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47556756 47556756 + Missense_Mutation SNP T T C TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr4:47556756T>C ENST00000273859.3 + 11 1918 c.1649T>C c.(1648-1650)gTa>gCa p.V550A NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 550 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ACAGACGTGGTACCAGACACC 0.363000 25 33 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39502455 39502455 + Silent SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr14:39502455G>A ENST00000537403.1 - 16 2882 c.1680C>T c.(1678-1680)tcC>tcT p.S560S SEC23A_ENST00000536508.1_Silent_p.S660S|SEC23A_ENST00000545328.2_Silent_p.S733S|SEC23A_ENST00000307712.6_Silent_p.S762S Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 762 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) AAGCAGCACTGGACACAGCAA 0.328000 4 76 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23855703 23855703 + Missense_Mutation SNP G G A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr14:23855703G>A ENST00000405093.3 - 33 4850 c.4780C>T c.(4780-4782)Cgg>Tgg p.R1594W MYH6_ENST00000356287.3_Missense_Mutation_p.R1594W NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1594 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R1594R(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCCACCACCCGCTGGTGGTTG 0.592000 50 107 0 0 1 0 0 RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 4 8 --- --- --- --- SLC6A19 340024 broad.mit.edu 37 5 1216915 1216915 + Frame_Shift_Del DEL C C - TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr5:1216915delC ENST00000304460.10 + 8 1084 c.1028delC c.(1027-1029)acfs p.T343fs NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 343 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.T343I(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AACATCCTGACCCTCATCAAC 0.657 48 67 --- --- --- --- TTC17 55761 broad.mit.edu 37 11 43465682 43465683 + In_Frame_Ins INS - - ACA TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr11:43465682_43465683insACA ENST00000039989.4 + 18 2602_2603 c.2588_2589insACA c.(2587-2589)gca>gACAca p.863_863A>DT TTC17_ENST00000299240.6_In_Frame_Ins_p.920_920A>DT|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 863 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GTAGAAACAGGTCAGATAGAAA 0.421 7 55 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749492 33749493 + Frame_Shift_Ins INS - - A TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr17:33749492_33749493insA ENST00000394562.1 - 4 1078_1079 c.555_556insT c.(553-558)ttatagfs p.L*185fs SLFN12_ENST00000304905.5_Frame_Shift_Ins_p.L*185fs|SLFN12_ENST00000452764.3_Frame_Shift_Ins_p.L*185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCTGTTCTATCAAAAAAAACCC 0.366 30 77 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623899 77623899 + Frame_Shift_Del DEL T T - TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d915b8-0184-4ec7-93ad-e9ffa2f5743b 0b75be09-bdd0-435e-84ad-0624c781a430 g.chr18:77623899delT ENST00000316249.3 + 1 232 c.232delT c.(232-234)tcfs p.F78fs NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 78 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCCGTGCGCCTTCCGCGCCAT 0.716 2 4 --- --- --- ---