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	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_status	validation_method	validation_tumor_sample	validation_alt_allele	filter
CALML6	163688	broad.mit.edu	37	1	1848280	1848280	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1848280G>A	uc001aih.1	+	4	797	c.343G>A	c.(343-345)GCA>ACA	p.A115T		NM_138705	NP_619650	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3.					cytoplasm|nucleus	calcium ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597													5	174	---	---	---	---	PASS
KIAA1751	85452	broad.mit.edu	37	1	1920058	1920058	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1920058C>G	uc001aim.1	-	4	345	c.189G>C	c.(187-189)TTG>TTC	p.L63F	KIAA1751_uc009vkz.1_Missense_Mutation_p.L63F|KIAA1751_uc001ain.1_Missense_Mutation_p.L63F	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	63										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTTTCTTCTTCAATTTATCAG	0.498													38	70	---	---	---	---	PASS
ZBTB48	3104	broad.mit.edu	37	1	6642200	6642200	+	Nonsense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6642200C>G	uc009vmc.1	+	3	896	c.773C>G	c.(772-774)TCA>TGA	p.S258*	ZBTB48_uc001anx.2_Nonsense_Mutation_p.S258*|ZBTB48_uc009vmd.1_Nonsense_Mutation_p.S258*	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	258						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAGGAAGTCAAATGTAATC	0.572													23	36	---	---	---	---	PASS
PGD	5226	broad.mit.edu	37	1	10460560	10460560	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10460560G>A	uc001arc.2	+	3	285	c.195G>A	c.(193-195)CTG>CTA	p.L65L	PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Silent_p.L65L|PGD_uc010oal.1_Silent_p.L52L	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	65					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TCTCCAAGCTGAAGAAGCCCC	0.522													31	57	---	---	---	---	PASS
PLOD1	5351	broad.mit.edu	37	1	12024315	12024315	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12024315C>T	uc001atm.2	+	12	1377	c.1286C>T	c.(1285-1287)GCC>GTC	p.A429V	PLOD1_uc010obb.1_Missense_Mutation_p.A476V	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	429					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCTACTATGCCCGTTCCGAG	0.632													5	259	---	---	---	---	PASS
NBPF1	55672	broad.mit.edu	37	1	16902856	16902856	+	Silent	SNP	C	A	A	rs144773412	by1000genomes	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16902856C>A	uc009vos.1	-	19	2913	c.2025G>T	c.(2023-2025)CCG>CCT	p.P675P	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.P133P|NBPF1_uc010oce.1_Silent_p.P404P	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	675						cytoplasm					0				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)		CTGGCTCATCCGGAGTGAGGA	0.572													103	550	---	---	---	---	PASS
CDA	978	broad.mit.edu	37	1	20931448	20931448	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20931448C>A	uc001bdk.2	+	2	361	c.182C>A	c.(181-183)CCG>CAG	p.P61Q	CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_Intron	NM_001785	NP_001776	P32320	CDD_HUMAN	cytidine deaminase	61					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GCCTGCTACCCGCTGGGCATC	0.522													18	26	---	---	---	---	PASS
TRIM63	84676	broad.mit.edu	37	1	26387757	26387757	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26387757C>G	uc001bli.1	-	3	537	c.401G>C	c.(400-402)TGT>TCT	p.C134S		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	134	Interaction with TTN.|B box-type.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACACGTGAGACAGTAGATGTT	0.562													28	51	---	---	---	---	PASS
KIAA0319L	79932	broad.mit.edu	37	1	35915495	35915495	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35915495C>T	uc001byx.2	-	15	2584	c.2326G>A	c.(2326-2328)GAC>AAC	p.D776N	KIAA0319L_uc001byw.2_Missense_Mutation_p.D218N|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D418N	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	776	PKD 5.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGGTCCGGTCTGTGTCACTC	0.483													32	61	---	---	---	---	PASS
USP24	23358	broad.mit.edu	37	1	55608723	55608723	+	Nonsense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55608723C>A	uc001cyg.3	-	19	2029	c.2029G>T	c.(2029-2031)GAA>TAA	p.E677*		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	837					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TTAGCAATTTCTTCATCAGGT	0.284													5	4	---	---	---	---	PASS
LRRC7	57554	broad.mit.edu	37	1	70446077	70446077	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70446077C>A	uc001dep.2	+	7	643	c.613C>A	c.(613-615)CAA>AAA	p.Q205K	LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	205	LRR 8.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGTTCTGGATCAAATACAAAA	0.328													77	157	---	---	---	---	PASS
RSBN1	54665	broad.mit.edu	37	1	114354943	114354943	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114354943C>G	uc001edq.2	-	1	128	c.92G>C	c.(91-93)CGA>CCA	p.R31P	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	31						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCGCGCATCGCGCAAGCGC	0.672													37	36	---	---	---	---	PASS
IGSF3	3321	broad.mit.edu	37	1	117158825	117158825	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117158825C>A	uc001egr.1	-	3	1003	c.298G>T	c.(298-300)GGG>TGG	p.G100W	IGSF3_uc001egq.1_Missense_Mutation_p.G100W	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	100	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GTTGAGTTCCCCTGGACTCTT	0.542													17	33	---	---	---	---	PASS
OR10K1	391109	broad.mit.edu	37	1	158436285	158436285	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158436285C>A	uc010pij.1	+	1	934	c.934C>A	c.(934-936)CTT>ATT	p.L312I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TTTCTATCCTCTTAGTTAAag	0.204													19	36	---	---	---	---	PASS
SPTA1	6708	broad.mit.edu	37	1	158636282	158636282	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158636282G>T	uc001fst.1	-	16	2243	c.2044C>A	c.(2044-2046)CAG>AAG	p.Q682K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	682	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCATGCAACTGGGTCCCTGGG	0.428													16	36	---	---	---	---	PASS
SPTA1	6708	broad.mit.edu	37	1	158636283	158636283	+	Silent	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158636283G>T	uc001fst.1	-	16	2242	c.2043C>A	c.(2041-2043)ACC>ACA	p.T681T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	681	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CATGCAACTGGGTCCCTGGGA	0.428													16	36	---	---	---	---	PASS
MR1	3140	broad.mit.edu	37	1	181018381	181018381	+	Silent	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181018381G>T	uc001goq.1	+	2	266	c.261G>T	c.(259-261)CTG>CTT	p.L87L	MR1_uc001gop.2_Silent_p.L87L|MR1_uc001gor.1_Silent_p.L87L|MR1_uc001gos.1_Silent_p.L87L|MR1_uc010pns.1_Silent_p.L87L	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	87	Extracellular (Potential).|Ligand-binding.|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						ACACTCAGCTGCTGAGGGGCT	0.582													11	29	---	---	---	---	PASS
CACNA1E	777	broad.mit.edu	37	1	181701998	181701998	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181701998G>A	uc001gow.2	+	20	2941	c.2776G>A	c.(2776-2778)GTC>ATC	p.V926I	CACNA1E_uc009wxs.2_Missense_Mutation_p.V814I|CACNA1E_uc001gox.1_Missense_Mutation_p.V152I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V152I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	926	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GCATCGCCGCGTCAGGACAGA	0.652													51	84	---	---	---	---	PASS
KCNH1	3756	broad.mit.edu	37	1	210856666	210856666	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210856666G>T	uc001hib.2	-	11	3097	c.2927C>A	c.(2926-2928)CCA>CAA	p.P976Q	KCNH1_uc001hic.2_Missense_Mutation_p.P949Q	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	976	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGGGACTGTGGCCTCGATAT	0.438													72	165	---	---	---	---	PASS
TMEM63A	9725	broad.mit.edu	37	1	226065176	226065176	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226065176C>A	uc001hpm.1	-	3	355	c.105G>T	c.(103-105)TCG>TCT	p.S35S	TMEM63A_uc010pvi.1_Silent_p.S35S	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	35						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					TGTTTTTGGCCGAGTTGTAGC	0.607											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44	---	---	---	---	PASS
OBSCN	84033	broad.mit.edu	37	1	228562323	228562323	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228562323C>G	uc009xez.1	+	97	22577	c.22533C>G	c.(22531-22533)ATC>ATG	p.I7511M	OBSCN_uc001hsr.1_Missense_Mutation_p.I2140M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7511	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GTGTCCTCATCTCTGCCACCC	0.622													43	94	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237919670	237919670	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237919670C>A	uc001hyl.1	+	81	11348	c.11228C>A	c.(11227-11229)ACA>AAA	p.T3743K	RYR2_uc010pya.1_Missense_Mutation_p.T158K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3743					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCTACAGACAATCAGTGCC	0.488													27	53	---	---	---	---	PASS
OR2B11	127623	broad.mit.edu	37	1	247614885	247614885	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247614885G>A	uc010pyx.1	-	1	400	c.400C>T	c.(400-402)CTG>TTG	p.L134L		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCATAGTGCAGGGGCTTGCAG	0.622													26	72	---	---	---	---	PASS
OR2T34	127068	broad.mit.edu	37	1	248738056	248738056	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248738056C>A	uc001iep.1	-	1	3	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCTGAGCACATGACTGGCT	0.448													20	82	---	---	---	---	PASS
OR2T35	403244	broad.mit.edu	37	1	248801900	248801900	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248801900G>A	uc001ies.1	-	1	660	c.660C>T	c.(658-660)CAC>CAT	p.H220H		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGAGGATGTGCGTGTAGG	0.537													22	33	---	---	---	---	PASS
TPO	7173	broad.mit.edu	37	2	1499811	1499811	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1499811T>C	uc002qww.2	+	12	2148	c.2057T>C	c.(2056-2058)CTG>CCG	p.L686P	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.L629P|TPO_uc002qwr.2_Missense_Mutation_p.L686P|TPO_uc002qwx.2_Missense_Mutation_p.L629P|TPO_uc010yio.1_Missense_Mutation_p.L513P|TPO_uc010yip.1_Missense_Mutation_p.L686P|TPO_uc002qwy.1_Missense_Mutation_p.L26P|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	686	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGCGTGAGCTGGAGAAGCAC	0.562													12	22	---	---	---	---	PASS
ADCY3	109	broad.mit.edu	37	2	25061741	25061741	+	Intron	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25061741C>T	uc002rfs.3	-						ADCY3_uc002rfr.3_Missense_Mutation_p.A77T|ADCY3_uc010ykm.1_Intron	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGTGTTGGAGCCACGACACAG	0.383													4	126	---	---	---	---	PASS
LTBP1	4052	broad.mit.edu	37	2	33487888	33487888	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33487888G>A	uc002ros.2	+	14	2518	c.2518G>A	c.(2518-2520)GGT>AGT	p.G840S	LTBP1_uc002rot.2_Missense_Mutation_p.G514S|LTBP1_uc002rou.2_Missense_Mutation_p.V514I|LTBP1_uc002rov.2_Missense_Mutation_p.V461I|LTBP1_uc010ymz.1_Missense_Mutation_p.V514I|LTBP1_uc010yna.1_Missense_Mutation_p.V461I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACAGTTTCCAGGTAGCCTGTG	0.403													31	75	---	---	---	---	PASS
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48872233	48872233	+	Intron	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48872233G>T	uc010yol.1	+						STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.G826V|GTF2A1L_uc002rws.1_Missense_Mutation_p.G122V|GTF2A1L_uc010yom.1_Missense_Mutation_p.G88V|GTF2A1L_uc002rwt.2_Missense_Mutation_p.G122V	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1						endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTACCAGCAGGTGTGACACTA	0.333													27	64	---	---	---	---	PASS
REG3A	5068	broad.mit.edu	37	2	79385460	79385460	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79385460G>T	uc002sod.1	-	3	580	c.325C>A	c.(325-327)CCC>ACC	p.P109T	REG3A_uc002soe.1_Missense_Mutation_p.P109T|REG3A_uc002sof.1_Missense_Mutation_p.P109T	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	109	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1						ACCTGTGTGGGGTCATGGAGC	0.572													25	31	---	---	---	---	PASS
TEKT4	150483	broad.mit.edu	37	2	95537563	95537563	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95537563C>A	uc002stw.1	+	1	332	c.239C>A	c.(238-240)GCG>GAG	p.A80E	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	80					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CAGGCGCTGGCGCAGCGCACG	0.682													10	33	---	---	---	---	PASS
UXS1	80146	broad.mit.edu	37	2	106761798	106761798	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106761798G>C	uc002tdm.2	-	6	403	c.305C>G	c.(304-306)TCC>TGC	p.S102C	UXS1_uc002tdn.2_Missense_Mutation_p.S107C|UXS1_uc002tdo.2_Missense_Mutation_p.S45C|UXS1_uc010ywh.1_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	102	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						AGTTAGATGGGAGCCCACGAA	0.552													15	31	---	---	---	---	PASS
SULT1C3	442038	broad.mit.edu	37	2	108875292	108875292	+	Intron	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:108875292G>C	uc010ywo.1	+							NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member							cytoplasm	alcohol sulfotransferase activity			skin(1)	1						AAAGTAAGTGGCACTGAGACT	0.453													20	29	---	---	---	---	PASS
PTPN18	26469	broad.mit.edu	37	2	131116818	131116818	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131116818G>A	uc002trc.2	+	3	316	c.215G>A	c.(214-216)CGA>CAA	p.R72Q	PTPN18_uc002trd.2_Missense_Mutation_p.R72Q|PTPN18_uc002trb.2_Intron	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	72	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					GATCAGACGCGAGTAATCCTC	0.562													42	72	---	---	---	---	PASS
MCM6	4175	broad.mit.edu	37	2	136633875	136633875	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136633875C>T	uc002tuw.2	-	1	137	c.61G>A	c.(61-63)GAG>AAG	p.E21K		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	21					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCGGCCACCTCGTCGCGGACC	0.697													31	49	---	---	---	---	PASS
FAP	2191	broad.mit.edu	37	2	163083088	163083088	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163083088C>A	uc002ucd.2	-	3	343	c.135G>T	c.(133-135)AAG>AAT	p.K45N	FAP_uc010zct.1_Missense_Mutation_p.K45N|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Intron	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	45	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TTAAAATATCCTTCAGTGTGA	0.289													20	49	---	---	---	---	PASS
SCN9A	6335	broad.mit.edu	37	2	167094728	167094728	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167094728A>T	uc010fpl.2	-	20	3985	c.3644T>A	c.(3643-3645)CTG>CAG	p.L1215Q	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1226	Helical; Name=S2 of repeat III; (Potential).|III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCATACTCCAGGATAATCTT	0.323													10	17	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179477683	179477683	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179477683C>G	uc010zfg.1	-	214	42285	c.42061G>C	c.(42061-42063)GAA>CAA	p.E14021Q	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7716Q|TTN_uc010zfi.1_Missense_Mutation_p.E7649Q|TTN_uc010zfj.1_Missense_Mutation_p.E7524Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14948							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCATTTCAATGACATAA	0.463													26	49	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179606388	179606388	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179606388C>T	uc010zfh.1	-	46	11283	c.11059G>A	c.(11059-11061)GTG>ATG	p.V3687M	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V3620M|TTN_uc010zfj.1_Missense_Mutation_p.V3495M|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAATAGCACTCCATTAAAG	0.418													56	119	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	186680145	186680145	+	RNA	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186680145C>G	uc002upm.2	+	3		c.3455C>G			uc010zfu.1_Missense_Mutation_p.H1289Q					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																		ACTTCATACACAGAATTATGA	0.308													24	52	---	---	---	---	PASS
COL3A1	1281	broad.mit.edu	37	2	189876374	189876374	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189876374C>A	uc002uqj.1	+	51	4392	c.4275C>A	c.(4273-4275)AGC>AGA	p.S1425R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1425	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGAATGGAGCAAAACAGTCT	0.383													28	53	---	---	---	---	PASS
MYO1B	4430	broad.mit.edu	37	2	192248021	192248021	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192248021C>T	uc010fsg.2	+	15	1561	c.1306C>T	c.(1306-1308)CAC>TAC	p.H436Y	MYO1B_uc002usq.2_Missense_Mutation_p.H436Y|MYO1B_uc002usr.2_Missense_Mutation_p.H436Y|MYO1B_uc002ust.1_Missense_Mutation_p.H74Y	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	436	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAATGGACTCACATTGACTA	0.338													13	37	---	---	---	---	PASS
PLCL1	5334	broad.mit.edu	37	2	198950160	198950160	+	Nonsense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198950160C>G	uc010fsp.2	+	2	2210	c.1919C>G	c.(1918-1920)TCA>TGA	p.S640*	PLCL1_uc002uuv.3_Nonsense_Mutation_p.S561*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	640	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	AAGTTCTTATCAAGAATCTAT	0.378													26	32	---	---	---	---	PASS
ALS2CR4	65062	broad.mit.edu	37	2	202501504	202501504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202501504G>A	uc002uyh.1	-	6	342	c.241C>T	c.(241-243)CAA>TAA	p.Q81*	ALS2CR4_uc002uyg.1_Nonsense_Mutation_p.Q73*|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	105						integral to membrane	protein binding				0						TGTCTTCTTTGAACAGGAGCC	0.448													6	12	---	---	---	---	PASS
FN1	2335	broad.mit.edu	37	2	216248165	216248165	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216248165C>G	uc002vfa.2	-	31	5202	c.4936G>C	c.(4936-4938)GAC>CAC	p.D1646H	FN1_uc002vfb.2_Missense_Mutation_p.D1555H|FN1_uc002vfc.2_Missense_Mutation_p.D1555H|FN1_uc002vfd.2_Missense_Mutation_p.D1646H|FN1_uc002vfe.2_Missense_Mutation_p.D1555H|FN1_uc002vff.2_Missense_Mutation_p.D1555H|FN1_uc002vfg.2_Missense_Mutation_p.D1555H|FN1_uc002vfh.2_Missense_Mutation_p.D1555H|FN1_uc002vfi.2_Missense_Mutation_p.D1646H|FN1_uc002vfj.2_Missense_Mutation_p.D1646H|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.D273H|FN1_uc010fvc.1_Missense_Mutation_p.D8H|FN1_uc010fvd.1_Missense_Mutation_p.D8H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTGTTGTCCTGAACATCG	0.458													73	121	---	---	---	---	PASS
PECR	55825	broad.mit.edu	37	2	216946465	216946465	+	5'UTR	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216946465C>A	uc002vft.2	-	1					PECR_uc010zjq.1_RNA|PECR_uc002vfu.1_Silent_p.G19G|TMEM169_uc010zjr.1_5'Flank|TMEM169_uc010zjs.1_5'Flank|TMEM169_uc002vfw.2_5'Flank|TMEM169_uc002vfv.3_5'Flank	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase						fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity				0		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	AGGAGGCCATCCCTGCAGCGG	0.697													10	25	---	---	---	---	PASS
CCDC108	255101	broad.mit.edu	37	2	219903729	219903729	+	Silent	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219903729C>T	uc002vjl.1	-	3	126	c.42G>A	c.(40-42)CAG>CAA	p.Q14Q	CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.2_Intron	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	14						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCACCTTCTGGGTTTTCT	0.433													27	50	---	---	---	---	PASS
KIAA1486	57624	broad.mit.edu	37	2	226447508	226447508	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226447508G>A	uc002voe.2	+	4	1550	c.1375G>A	c.(1375-1377)GCT>ACT	p.A459T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.A229T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	459	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCCTTACGACGCTGTGCATTC	0.627													4	72	---	---	---	---	PASS
TRIP12	9320	broad.mit.edu	37	2	230643175	230643175	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230643175C>T	uc002vpw.1	-	35	5222	c.5113G>A	c.(5113-5115)GCC>ACC	p.A1705T	TRIP12_uc002vpx.1_Missense_Mutation_p.A1753T|TRIP12_uc002vpy.1_Missense_Mutation_p.A1435T	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1705					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATAGCCTTGGCCATTAATTTT	0.438													42	105	---	---	---	---	PASS
NEU2	4759	broad.mit.edu	37	2	233899701	233899701	+	Silent	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233899701C>T	uc010zmn.1	+	2	1077	c.1077C>T	c.(1075-1077)TAC>TAT	p.Y359Y		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	359							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCAATGATTACGAGGAGATTG	0.577													89	170	---	---	---	---	PASS
GALNTL2	117248	broad.mit.edu	37	3	16242202	16242202	+	Silent	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16242202G>T	uc003car.3	+	3	1258	c.783G>T	c.(781-783)CTG>CTT	p.L261L	GALNTL2_uc003caq.3_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	261	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						ACAAGAGGCTGGGTGCCATCA	0.612													3	41	---	---	---	---	PASS
APEH	327	broad.mit.edu	37	3	49713631	49713631	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49713631G>A	uc003cxf.2	+	6	985	c.585G>A	c.(583-585)AAG>AAA	p.K195K	APEH_uc010hkw.1_Silent_p.K195K	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	195					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGGCTGAAGAAGCCAGACC	0.582													24	15	---	---	---	---	PASS
HEG1	57493	broad.mit.edu	37	3	124746086	124746086	+	Silent	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124746086C>T	uc003ehs.3	-	3	944	c.876G>A	c.(874-876)AGG>AGA	p.R292R	HEG1_uc011bke.1_Silent_p.R292R	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	292	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						AAGCTGCTGTCCTGTAGAAAT	0.498													10	31	---	---	---	---	PASS
SCHIP1	29970	broad.mit.edu	37	3	159482463	159482463	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:159482463G>C	uc003fcs.1	+	2	361	c.295G>C	c.(295-297)GAG>CAG	p.E99Q	SCHIP1_uc003fcq.1_Missense_Mutation_p.E175Q|SCHIP1_uc003fcr.1_Missense_Mutation_p.E88Q|SCHIP1_uc003fct.1_Missense_Mutation_p.E99Q|SCHIP1_uc010hvz.1_Missense_Mutation_p.E72Q	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	99	Poly-Glu.					cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			ggaggacggggaggaggagga	0.552													10	12	---	---	---	---	PASS
SLC2A2	6514	broad.mit.edu	37	3	170716076	170716076	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170716076A>G	uc003fhe.1	-	10	1589	c.1280T>C	c.(1279-1281)TTC>TCC	p.F427S	SLC2A2_uc003fhf.1_Missense_Mutation_p.F254S|SLC2A2_uc011bpu.1_Missense_Mutation_p.F300S	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	427	Cytoplasmic (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCCTTGACTGAAAAACTCAGC	0.473													33	156	---	---	---	---	PASS
MUC4	4585	broad.mit.edu	37	3	195477899	195477899	+	Silent	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195477899G>C	uc011bto.1	-	24	15808	c.15348C>G	c.(15346-15348)GTC>GTG	p.V5116V	MUC4_uc010hzq.2_Silent_p.V101V|MUC4_uc003fuz.2_Silent_p.V842V|MUC4_uc003fva.2_Silent_p.V724V|MUC4_uc003fvb.2_Silent_p.V760V|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.V760V|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.V724V|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.V808V|MUC4_uc011bti.1_Silent_p.V808V|MUC4_uc011btj.1_Silent_p.V985V|MUC4_uc011btk.1_Silent_p.V724V|MUC4_uc011btl.1_Silent_p.V753V|MUC4_uc011btm.1_Silent_p.V933V|MUC4_uc011btn.1_Silent_p.V724V|MUC4_uc003fvo.2_Silent_p.V1008V|MUC4_uc003fvp.2_Silent_p.V957V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2001					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGAAGTCAATGACCGGGCCCC	0.622													20	93	---	---	---	---	PASS
IGFBP7	3490	broad.mit.edu	37	4	57907042	57907042	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57907042T>C	uc003hcn.2	-	2	555	c.533A>G	c.(532-534)TAC>TGC	p.Y178C	IGFBP7_uc011cag.1_Missense_Mutation_p.Y178C	NM_001553	NP_001544	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	178	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			lung(2)|central_nervous_system(1)	3	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACAGCTCAAGTACACCTGGGC	0.517													37	15	---	---	---	---	PASS
ADH4	127	broad.mit.edu	37	4	100057789	100057789	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100057789G>T	uc003hun.2	-	5	486	c.410C>A	c.(409-411)ACC>AAC	p.T137N	uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.T156N	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	137					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TCCTTTGCAGGTAAACCTGCT	0.353													29	18	---	---	---	---	PASS
SCLT1	132320	broad.mit.edu	37	4	129880756	129880756	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129880756T>A	uc003igp.2	-	12	1552	c.1046A>T	c.(1045-1047)CAG>CTG	p.Q349L	SCLT1_uc003ign.2_Missense_Mutation_p.Q13L|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	349	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						CTTTCTTACCTGACTTTTTTG	0.338													27	24	---	---	---	---	PASS
TLL1	7092	broad.mit.edu	37	4	166929130	166929130	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166929130G>C	uc003irh.1	+	7	1494	c.847G>C	c.(847-849)GAA>CAA	p.E283Q	TLL1_uc011cjn.1_Missense_Mutation_p.E283Q|TLL1_uc011cjo.1_Missense_Mutation_p.E107Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	283	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGAGCCTGGAGAAGTAAACTC	0.408													32	23	---	---	---	---	PASS
GPM6A	2823	broad.mit.edu	37	4	176561965	176561965	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:176561965C>G	uc003iuf.2	-	5	1361	c.557G>C	c.(556-558)GGA>GCA	p.G186A	GPM6A_uc011ckj.1_Missense_Mutation_p.G179A|GPM6A_uc003iug.2_Missense_Mutation_p.G186A|GPM6A_uc003iuh.2_Missense_Mutation_p.G175A	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	186	Extracellular (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTTTTCCTCTCCAATTGTCAC	0.333													13	10	---	---	---	---	PASS
WDR17	116966	broad.mit.edu	37	4	177056260	177056260	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177056260G>A	uc003iuj.2	+	9	1328	c.1172G>A	c.(1171-1173)GGA>GAA	p.G391E	WDR17_uc003iuk.2_Missense_Mutation_p.G367E|WDR17_uc003ium.3_Missense_Mutation_p.G367E|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	391	WD 6.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATTCCTAGGGACATGTGGAA	0.328													45	32	---	---	---	---	PASS
LRP2BP	55805	broad.mit.edu	37	4	186299223	186299223	+	Intron	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186299223C>G	uc003ixj.1	-						LRP2BP_uc003ixk.1_5'UTR|LRP2BP_uc011ckr.1_Intron	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein							cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GCTTAAATATCAGGATTTGTA	0.358													31	25	---	---	---	---	PASS
IRX4	50805	broad.mit.edu	37	5	1878381	1878381	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1878381G>C	uc003jcz.2	-	5	1381	c.1262C>G	c.(1261-1263)TCT>TGT	p.S421C	IRX4_uc011cmf.1_Missense_Mutation_p.S282C	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	421					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		CAGGGCGCCAGAGTGGGGAAG	0.662													5	15	---	---	---	---	PASS
CDH10	1008	broad.mit.edu	37	5	24535809	24535809	+	Intron	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24535809G>T	uc003jgr.1	-						CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CATGATTCCTGACCTGTTTCA	0.413										HNSCC(23;0.051)			61	51	---	---	---	---	PASS
EGFLAM	133584	broad.mit.edu	37	5	38435307	38435307	+	Silent	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38435307G>T	uc003jlc.1	+	16	2559	c.2235G>T	c.(2233-2235)GTG>GTT	p.V745V	EGFLAM_uc003jlb.1_Silent_p.V745V|EGFLAM_uc003jle.1_Silent_p.V511V|EGFLAM_uc003jlf.1_Silent_p.V111V	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	745	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					ATGATGATGTGAAGAAGAACT	0.463													32	99	---	---	---	---	PASS
FYB	2533	broad.mit.edu	37	5	39202020	39202020	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39202020G>A	uc003jls.2	-	1	1110	c.1043C>T	c.(1042-1044)CCT>CTT	p.P348L	FYB_uc003jlt.2_Missense_Mutation_p.P348L|FYB_uc003jlu.2_Missense_Mutation_p.P348L|FYB_uc011cpl.1_Missense_Mutation_p.P358L	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	348	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			AAACAAGGGAGGCAATGGCTT	0.512													32	95	---	---	---	---	PASS
HEATR7B2	133558	broad.mit.edu	37	5	41007490	41007490	+	Silent	SNP	A	T	T	rs145454293	by1000genomes	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41007490A>T	uc003jmj.3	-	34	4165	c.3675T>A	c.(3673-3675)TCT>TCA	p.S1225S	HEATR7B2_uc003jmi.3_Silent_p.S780S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1225							binding			ovary(6)|central_nervous_system(2)	8						CCCCCTCATCAGATTCCTTTG	0.448													3	14	---	---	---	---	PASS
CCL28	56477	broad.mit.edu	37	5	43382071	43382071	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43382071T>A	uc003jnu.2	-	3	345	c.275A>T	c.(274-276)AAA>ATA	p.K92I	CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA|CCL28_uc010ivn.2_Missense_Mutation_p.K45I	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28 precursor	92					chemotaxis|immune response	extracellular space	chemokine activity			ovary(1)|kidney(1)	2						TTTACCATTTTTCTTGGCAGC	0.458													78	194	---	---	---	---	PASS
NNT	23530	broad.mit.edu	37	5	43649385	43649385	+	Silent	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43649385G>C	uc003joe.2	+	11	1836	c.1581G>C	c.(1579-1581)CTG>CTC	p.L527L	NNT_uc003jof.2_Silent_p.L527L	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	527	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	ACTCACCACTGATGTCTGTGA	0.488													93	319	---	---	---	---	PASS
CHD1	1105	broad.mit.edu	37	5	98234111	98234111	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98234111C>A	uc003knf.2	-	9	1362	c.1214G>T	c.(1213-1215)GGT>GTT	p.G405V		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	405	Chromo 2.				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			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		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)	ATCAGGATAACCAGCTGCTGA	0.358													20	8	---	---	---	---	PASS
P4HA2	8974	broad.mit.edu	37	5	131553476	131553476	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131553476C>A	uc003kwh.2	-	3	712	c.148G>T	c.(148-150)GTG>TTG	p.V50L	P4HA2_uc003kwg.2_Missense_Mutation_p.V50L|P4HA2_uc003kwi.2_Missense_Mutation_p.V50L|P4HA2_uc003kwk.2_Missense_Mutation_p.V50L|P4HA2_uc003kwl.2_Missense_Mutation_p.V50L|P4HA2_uc003kwj.2_Missense_Mutation_p.V50L	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	50						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				0		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)	GCTTCCTCCACAAGGATGTAC	0.498													57	39	---	---	---	---	PASS
PCDHGC3	5098	broad.mit.edu	37	5	140857271	140857271	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140857271C>A	uc003lkv.1	+	1	1703	c.1588C>A	c.(1588-1590)CGG>AGG	p.R530R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.R530R|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	530	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGAGGATCGGCGGGAATT	0.493													3	45	---	---	---	---	PASS
FAM71B	153745	broad.mit.edu	37	5	156592581	156592581	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156592581C>A	uc003lwn.2	-	1	699	c.599G>T	c.(598-600)AGC>ATC	p.S200I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	200						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCACTAGGCTTTTGTTGTC	0.517													127	114	---	---	---	---	PASS
NIPAL4	348938	broad.mit.edu	37	5	156890110	156890110	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156890110C>T	uc003lwx.3	+	2	348	c.232C>T	c.(232-234)CTC>TTC	p.L78F	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.L78F|NIPAL4_uc010jin.1_Silent_p.C12C	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	78	Extracellular (Potential).					integral to membrane	receptor activity				0						AGGTTCCCTGCTCCACCTCTA	0.517													30	24	---	---	---	---	PASS
ODZ2	57451	broad.mit.edu	37	5	167673951	167673951	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167673951G>A	uc010jjd.2	+	27	5980	c.5980G>A	c.(5980-5982)GAC>AAC	p.D1994N	ODZ2_uc003lzr.3_Missense_Mutation_p.D1764N|ODZ2_uc003lzt.3_Missense_Mutation_p.D1367N|ODZ2_uc010jje.2_Missense_Mutation_p.D1258N	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTACAGTGATGACGGCCGCAT	0.512													35	33	---	---	---	---	PASS
NSD1	64324	broad.mit.edu	37	5	176710800	176710800	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176710800G>A	uc003mfr.3	+	20	6160	c.6022G>A	c.(6022-6024)GAT>AAT	p.D2008N	NSD1_uc003mft.3_Missense_Mutation_p.D1739N|NSD1_uc011dfx.1_Missense_Mutation_p.D1656N	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2008	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCGAATCATTGATGCTGGTCC	0.438			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			52	37	---	---	---	---	PASS
PRELID1	27166	broad.mit.edu	37	5	176733505	176733505	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176733505G>C	uc003mfx.2	+	5	746	c.594G>C	c.(592-594)GAG>GAC	p.E198D	RAB24_uc003mfu.2_5'Flank|RAB24_uc003mfv.2_5'Flank|RAB24_uc003mfw.2_5'Flank|PRELID1_uc003mfy.2_Missense_Mutation_p.E196D|MXD3_uc010jkk.2_3'UTR	NM_013237	NP_037369	Q9Y255	PRLD1_HUMAN	PRELI domain containing 1 precursor	198					immune response|multicellular organismal development	mitochondrion|nucleus					0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCTACAGAGAAGGCCAAGG	0.592													12	6	---	---	---	---	PASS
HIST1H2AA	221613	broad.mit.edu	37	6	25726721	25726721	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25726721C>G	uc003nfc.2	-	1	70	c.35G>C	c.(34-36)CGC>CCC	p.R12P	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	12					nucleosome assembly	nucleosome|nucleus	DNA binding				0						AGACTTGGCGCGTGCTTTTCC	0.527													39	66	---	---	---	---	PASS
SLC17A4	10050	broad.mit.edu	37	6	25777088	25777088	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25777088C>A	uc003nfe.2	+	10	1288	c.1169C>A	c.(1168-1170)TCC>TAC	p.S390Y	SLC17A4_uc011djx.1_Missense_Mutation_p.S160Y|SLC17A4_uc003nff.1_Missense_Mutation_p.S179Y|SLC17A4_uc003nfg.2_Missense_Mutation_p.S327Y|SLC17A4_uc010jqa.2_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	390					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						TGGGTCAGATCCAGCCACAGC	0.542													81	110	---	---	---	---	PASS
SLC17A2	10246	broad.mit.edu	37	6	25918760	25918760	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25918760G>T	uc011dkb.1	-	5	687	c.604C>A	c.(604-606)CTA>ATA	p.L202I	SLC17A2_uc011dkc.1_Missense_Mutation_p.L202I|SLC17A2_uc003nfl.2_Missense_Mutation_p.L202I			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	202	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						TGTGAGATTAGTCCCCCCACA	0.443													44	78	---	---	---	---	PASS
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	G	G	rs41559716		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATAGAGCAGGAGGGGCCG	0.657									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			5	28	---	---	---	---	PASS
CFB	629	broad.mit.edu	37	6	31918167	31918167	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31918167C>A	uc003nyj.3	+	12	1889	c.1611C>A	c.(1609-1611)ATC>ATA	p.I537I	CFB_uc011dor.1_Silent_p.I1039I|CFB_uc003nyi.2_Silent_p.I537I	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	537	Peptidase S1.			I -> T (in Ref. 13; AAA36219).	complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						AACACTCAATCAAGGTCAGCG	0.517													38	63	---	---	---	---	PASS
HLA-DRB5	3127	broad.mit.edu	37	6	32497911	32497911	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32497911C>T	uc003obj.2	-	1	96	c.91G>A	c.(91-93)GAC>AAC	p.D31N	HLA-DRB1_uc011dqa.1_Intron|HLA-DRB5_uc003obk.3_Intron	NM_002125	NP_002116	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR	31	Beta-1.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						CGTCGGGTGTCCCCAGCCAAA	0.537													8	105	---	---	---	---	PASS
PPARD	5467	broad.mit.edu	37	6	35392324	35392324	+	Silent	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35392324C>G	uc003okm.2	+	7	1155	c.846C>G	c.(844-846)CTC>CTG	p.L282L	PPARD_uc003okl.2_Silent_p.L282L|PPARD_uc003okn.2_Silent_p.L282L|PPARD_uc011dtb.1_Silent_p.L243L|PPARD_uc011dtc.1_Silent_p.L184L	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	282	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TTACCCTTCTCAAGTATGGCG	0.597													19	36	---	---	---	---	PASS
BYSL	705	broad.mit.edu	37	6	41889294	41889294	+	5'UTR	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41889294G>A	uc003orl.2	+	1					MED20_uc003orj.2_5'Flank|MED20_uc003ork.2_5'Flank|MED20_uc011duh.1_5'Flank|MED20_uc011dui.1_5'Flank|MED20_uc011duj.1_5'Flank	NM_004053	NP_004044	Q13895	BYST_HUMAN	bystin						cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus					0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAACTTTTTCGAGAAAAATGC	0.642											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	44	---	---	---	---	PASS
KLC4	89953	broad.mit.edu	37	6	43040698	43040698	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43040698C>G	uc003otv.1	+	13	1702	c.1625C>G	c.(1624-1626)TCC>TGC	p.S542C	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.S465C|KLC4_uc003otw.1_Missense_Mutation_p.S560C|KLC4_uc003otx.1_Missense_Mutation_p.S542C|KLC4_uc003oty.1_Missense_Mutation_p.S542C|KLC4_uc003otz.1_Missense_Mutation_p.S542C	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	542						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GTGGAGTGGTCCGGGGTAAGT	0.557													45	63	---	---	---	---	PASS
GPR116	221395	broad.mit.edu	37	6	46826856	46826856	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46826856G>A	uc003oyo.3	-	17	3073	c.2784C>T	c.(2782-2784)GTC>GTT	p.V928V	GPR116_uc011dwj.1_Silent_p.V483V|GPR116_uc011dwk.1_Silent_p.V357V|GPR116_uc003oyp.3_Silent_p.V786V|GPR116_uc003oyq.3_Silent_p.V928V|GPR116_uc010jzi.1_Silent_p.V600V	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	928	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			TATTGTGGCTGACAGTGGTTG	0.458													56	91	---	---	---	---	PASS
PKHD1	5314	broad.mit.edu	37	6	51491841	51491841	+	Silent	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51491841G>T	uc003pah.1	-	66	12015	c.11739C>A	c.(11737-11739)CGC>CGA	p.R3913R		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3913	Cytoplasmic (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GTGATTCTCGGCGTTTGGATG	0.438													64	103	---	---	---	---	PASS
PKHD1	5314	broad.mit.edu	37	6	51909846	51909846	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51909846G>C	uc003pah.1	-	25	2909	c.2633C>G	c.(2632-2634)GCC>GGC	p.A878G	PKHD1_uc003pai.2_Missense_Mutation_p.A878G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	878	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CACACGCGTGGCTGCAGCAGG	0.453													32	34	---	---	---	---	PASS
PKHD1	5314	broad.mit.edu	37	6	51936933	51936933	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51936933T>C	uc003pah.1	-	8	858	c.582A>G	c.(580-582)ATA>ATG	p.I194M	PKHD1_uc003pai.2_Missense_Mutation_p.I194M	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	194	IPT/TIG 2.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTGCCTATTTATAAGAGAGC	0.398													34	56	---	---	---	---	PASS
BAI3	577	broad.mit.edu	37	6	69759194	69759194	+	Silent	SNP	C	T	T	rs146898809		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69759194C>T	uc003pev.3	+	15	2737	c.2289C>T	c.(2287-2289)GGC>GGT	p.G763G	BAI3_uc010kak.2_Silent_p.G763G	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	763	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TTGTTCTTGGCGCAGTCCTAT	0.274													18	63	---	---	---	---	PASS
LCA5	167691	broad.mit.edu	37	6	80228525	80228525	+	Silent	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80228525C>T	uc003pix.2	-	2	522	c.87G>A	c.(85-87)ACG>ACA	p.T29T	LCA5_uc003piy.2_Silent_p.T29T|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Silent_p.T29T	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	29					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AAGACTGTGGCGTTTCAAAAT	0.423													94	170	---	---	---	---	PASS
KIAA1009	22832	broad.mit.edu	37	6	84862712	84862712	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84862712C>T	uc010kbp.2	-	23	3278	c.3181G>A	c.(3181-3183)GTC>ATC	p.V1061I	KIAA1009_uc003pkj.3_Missense_Mutation_p.V985I|KIAA1009_uc003pki.3_Missense_Mutation_p.V447I	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	1061	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTTTCTTGACGTCTAATTCA	0.368													37	58	---	---	---	---	PASS
ASCC3	10973	broad.mit.edu	37	6	100988080	100988080	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100988080C>G	uc003pqk.2	-	37	6063	c.5734G>C	c.(5734-5736)GAT>CAT	p.D1912H		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1912	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTTTGGTATCAGTGTCATAA	0.453													36	51	---	---	---	---	PASS
DDO	8528	broad.mit.edu	37	6	110734551	110734551	+	Missense_Mutation	SNP	T	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110734551T>G	uc003puc.2	-	2	203	c.199A>C	c.(199-201)ACT>CCT	p.T67P	C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.T67P	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	39					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTATCTGGAGTAAACTTGTCT	0.507													67	112	---	---	---	---	PASS
CLVS2	134829	broad.mit.edu	37	6	123377054	123377054	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123377054C>T	uc003pzi.1	+	5	1648	c.779C>T	c.(778-780)ACA>ATA	p.T260I		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	260					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GACATGGGGACATGGGCAAGA	0.468													41	72	---	---	---	---	PASS
MED23	9439	broad.mit.edu	37	6	131912582	131912582	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131912582T>A	uc003qcs.1	-	26	3731	c.3557A>T	c.(3556-3558)TAT>TTT	p.Y1186F	MED23_uc003qcq.2_Missense_Mutation_p.Y1192F|MED23_uc003qcr.1_Missense_Mutation_p.Y41F	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1186					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCGGAATGGATAGCCAACCCA	0.468													36	54	---	---	---	---	PASS
TAAR5	9038	broad.mit.edu	37	6	132910358	132910358	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132910358C>A	uc003qdk.2	-	1	520	c.468G>T	c.(466-468)CTG>CTT	p.L156L		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	156	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CCCATCCTGCCAGGATGTACC	0.547													29	48	---	---	---	---	PASS
EYA4	2070	broad.mit.edu	37	6	133783797	133783797	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133783797G>C	uc003qec.3	+	9	1077	c.619G>C	c.(619-621)GGA>CGA	p.G207R	EYA4_uc011ecq.1_Missense_Mutation_p.G153R|EYA4_uc011ecr.1_Missense_Mutation_p.G153R|EYA4_uc003qed.3_Missense_Mutation_p.G207R|EYA4_uc003qee.3_Missense_Mutation_p.G184R|EYA4_uc011ecs.1_Missense_Mutation_p.G207R|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	207					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GACAGAGAGTGGACTTTCCCA	0.438													34	53	---	---	---	---	PASS
SYNE1	23345	broad.mit.edu	37	6	152576052	152576052	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152576052T>A	uc010kiw.2	-	104	20035	c.19433A>T	c.(19432-19434)CAG>CTG	p.Q6478L	SYNE1_uc010kiv.2_Missense_Mutation_p.Q1002L|SYNE1_uc003qos.3_Missense_Mutation_p.Q1002L|SYNE1_uc003qot.3_Missense_Mutation_p.Q6407L|SYNE1_uc003qou.3_Missense_Mutation_p.Q6478L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6478	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTTCATCTGATGACATCG	0.373										HNSCC(10;0.0054)			9	40	---	---	---	---	PASS
FBXL18	80028	broad.mit.edu	37	7	5540470	5540470	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5540470G>A	uc003soo.2	-	3	1524	c.1430C>T	c.(1429-1431)TCT>TTT	p.S477F	FBXL18_uc003son.3_Missense_Mutation_p.S477F	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	477	LRR 8.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTTCAGCAGAGACCAGAACAC	0.657													16	30	---	---	---	---	PASS
HERPUD2	64224	broad.mit.edu	37	7	35673301	35673301	+	Nonstop_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:35673301C>A	uc003tet.2	-	8	2025	c.1220G>T	c.(1219-1221)TGA>TTA	p.*407L	HERPUD2_uc003tes.3_Nonstop_Mutation_p.*407L	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	407					response to unfolded protein	integral to membrane				ovary(3)	3						TTTTTCAGGTCAATTGGCAAC	0.408													42	84	---	---	---	---	PASS
KIAA0895	23366	broad.mit.edu	37	7	36373699	36373699	+	Nonsense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36373699C>A	uc003tfd.2	-	5	1123	c.1072G>T	c.(1072-1074)GAG>TAG	p.E358*	KIAA0895_uc003tfc.2_Nonsense_Mutation_p.E345*|KIAA0895_uc011kaw.1_Nonsense_Mutation_p.E255*|KIAA0895_uc003tfb.2_Nonsense_Mutation_p.E307*|KIAA0895_uc011kax.1_Nonsense_Mutation_p.E355*	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	358											0						GGCTTTAGCTCATGTTTTTTA	0.413													28	74	---	---	---	---	PASS
ABCB1	5243	broad.mit.edu	37	7	87190661	87190661	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87190661T>C	uc003uiz.1	-	9	1163	c.745A>G	c.(745-747)AAA>GAA	p.K249E	ABCB1_uc011khc.1_Missense_Mutation_p.K185E	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	249	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCTCCAGCTTTTGCATACGCT	0.318													30	39	---	---	---	---	PASS
ANKIB1	54467	broad.mit.edu	37	7	92027579	92027579	+	Silent	SNP	A	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92027579A>G	uc003ulw.2	+	20	2962	c.2586A>G	c.(2584-2586)TTA>TTG	p.L862L	ANKIB1_uc010lew.1_Silent_p.L131L	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	862	UIM.						protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATACAGTTATCACTGCAAG	0.428													30	48	---	---	---	---	PASS
VGF	7425	broad.mit.edu	37	7	100807457	100807457	+	Missense_Mutation	SNP	A	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100807457A>C	uc003uxx.3	-	2	886	c.668T>G	c.(667-669)CTG>CGG	p.L223R		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	223					response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					cgggggcggcaggggcgcgcg	0.557													17	25	---	---	---	---	PASS
FOXP2	93986	broad.mit.edu	37	7	114298204	114298204	+	Silent	SNP	A	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:114298204A>T	uc003vhb.2	+	11	1724	c.1350A>T	c.(1348-1350)CCA>CCT	p.P450P	FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Silent_p.P475P|FOXP2_uc003vha.2_Silent_p.P358P|FOXP2_uc011kmu.1_Silent_p.P467P|FOXP2_uc011kmv.1_Silent_p.P449P|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_Silent_p.P20P	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	450					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						CTACCACACCAACGGCCCCAG	0.532													56	76	---	---	---	---	PASS
WNT16	51384	broad.mit.edu	37	7	120969747	120969747	+	Silent	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:120969747C>G	uc003vjw.2	+	2	479	c.222C>G	c.(220-222)GCC>GCG	p.A74A	WNT16_uc003vjv.2_Silent_p.A64A|WNT16_uc010lkl.2_5'UTR	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	74					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					GAGAGGGCGCCCGGCTGGGCA	0.652													28	50	---	---	---	---	PASS
PTPRZ1	5803	broad.mit.edu	37	7	121653575	121653575	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121653575C>T	uc003vjy.2	+	12	4870	c.4475C>T	c.(4474-4476)TCA>TTA	p.S1492L	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1492	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AGTGTATCCTCAGACAGTCAA	0.398													22	33	---	---	---	---	PASS
TSGA14	95681	broad.mit.edu	37	7	130067793	130067793	+	Intron	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:130067793C>G	uc003vpz.2	-						TSGA14_uc010lmf.2_Intron|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron|TSGA14_uc003vqb.1_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14						G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					AATCTTTACTCACCAGTGTCC	0.313													22	56	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	7	142180766	142180766	+	Intron	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142180766G>T	uc011kro.1	+						uc011krp.1_Intron|uc011krr.1_Intron|uc011krx.1_Intron|uc011ksa.1_RNA|uc011krz.1_Silent_p.V31V					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTCTTCAGGACCTGGAATT	0.547													39	196	---	---	---	---	PASS
OR2A5	393046	broad.mit.edu	37	7	143747882	143747882	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143747882C>A	uc011ktw.1	+	1	388	c.388C>A	c.(388-390)CTG>ATG	p.L130M		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					CTGCCACCCTCTGCAATATTC	0.488													89	130	---	---	---	---	PASS
WDR60	55112	broad.mit.edu	37	7	158719682	158719682	+	Splice_Site	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158719682G>A	uc003woe.3	+	20	2592	c.2434_splice	c.e20-1	p.V812_splice	WDR60_uc010lqv.2_Splice_Site|WDR60_uc010lqw.2_Splice_Site_p.V444_splice	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60											ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCTGTTTTTAGGTGGTTGTTG	0.279													10	16	---	---	---	---	PASS
DLGAP2	9228	broad.mit.edu	37	8	1616589	1616589	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1616589C>A	uc003wpl.2	+	6	1762	c.1665C>A	c.(1663-1665)ACC>ACA	p.T555T	DLGAP2_uc003wpm.2_Silent_p.T555T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	634					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGAGCAGCACCGAATCCACCC	0.622													7	12	---	---	---	---	PASS
RP1L1	94137	broad.mit.edu	37	8	10468059	10468059	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10468059G>A	uc003wtc.2	-	4	3778	c.3549C>T	c.(3547-3549)GAC>GAT	p.D1183D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1183					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGGACCCAAGGTCTGGCAGAG	0.612													20	36	---	---	---	---	PASS
EPB49	2039	broad.mit.edu	37	8	21937956	21937956	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21937956G>C	uc011kyt.1	+	12	1163	c.934G>C	c.(934-936)GAG>CAG	p.E312Q	EPB49_uc010ltl.2_Missense_Mutation_p.E312Q|EPB49_uc011kys.1_Missense_Mutation_p.E272Q|EPB49_uc010ltn.2_Missense_Mutation_p.E287Q|EPB49_uc011kyu.1_Missense_Mutation_p.E312Q|EPB49_uc011kyv.1_Missense_Mutation_p.E312Q|EPB49_uc010ltq.2_Missense_Mutation_p.E312Q	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	312					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		ATCAGGGAGTGAGACTGGAAG	0.607													38	83	---	---	---	---	PASS
SORBS3	10174	broad.mit.edu	37	8	22414364	22414364	+	Silent	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22414364C>T	uc003xbv.2	+	4	697	c.357C>T	c.(355-357)GTC>GTT	p.V119V	SORBS3_uc011kzk.1_RNA	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	119	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGCGCTGGGTCAAGTACGAGG	0.657													23	33	---	---	---	---	PASS
ESCO2	157570	broad.mit.edu	37	8	27660811	27660811	+	Intron	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27660811C>T	uc003xgg.2	+						ESCO2_uc010luy.1_Intron	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2						cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		ATCATCTTTTCTTCTCTTTTA	0.323									SC_Phocomelia_syndrome				22	41	---	---	---	---	PASS
MYBL1	4603	broad.mit.edu	37	8	67476961	67476961	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67476961T>C	uc003xwj.2	-	16	2637	c.2230A>G	c.(2230-2232)AGT>GGT	p.S744G	MYBL1_uc003xwl.2_Missense_Mutation_p.S684G|MYBL1_uc003xwk.2_Missense_Mutation_p.S683G	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	744					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GAAGTACTACTGGTAGCTGTG	0.373													7	10	---	---	---	---	PASS
ZFHX4	79776	broad.mit.edu	37	8	77767214	77767214	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767214C>G	uc003yav.2	+	10	8309	c.7922C>G	c.(7921-7923)GCA>GGA	p.A2641G	ZFHX4_uc003yau.1_Missense_Mutation_p.A2686G|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2641G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2641	C2H2-type 17.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGTTTAAAGCAAAGTCGGCC	0.537										HNSCC(33;0.089)			33	72	---	---	---	---	PASS
ZFHX4	79776	broad.mit.edu	37	8	77767221	77767221	+	Silent	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767221G>T	uc003yav.2	+	10	8316	c.7929G>T	c.(7927-7929)TCG>TCT	p.S2643S	ZFHX4_uc003yau.1_Silent_p.S2688S|ZFHX4_uc003yaw.1_Silent_p.S2643S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2643	C2H2-type 17.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGCAAAGTCGGCCTTAGAAA	0.552										HNSCC(33;0.089)			33	65	---	---	---	---	PASS
MMP16	4325	broad.mit.edu	37	8	89179973	89179973	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89179973G>T	uc003yeb.3	-	4	916	c.634C>A	c.(634-636)CCT>ACT	p.P212T	MMP16_uc003yec.2_Missense_Mutation_p.P212T	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	212	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						CCTGGTCCAGGGAAGTAGGCA	0.438													24	49	---	---	---	---	PASS
C8orf47	203111	broad.mit.edu	37	8	99101844	99101844	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99101844C>G	uc003yih.1	+	2	747	c.599C>G	c.(598-600)GCT>GGT	p.A200G		NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	hypothetical protein LOC203111	200											0	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CTGCAAATAGCTGGAGAGCTA	0.478													15	39	---	---	---	---	PASS
VPS13B	157680	broad.mit.edu	37	8	100729551	100729551	+	Nonsense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100729551G>T	uc003yiv.2	+	37	6793	c.6682G>T	c.(6682-6684)GAA>TAA	p.E2228*	VPS13B_uc003yiw.2_Nonsense_Mutation_p.E2203*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2228					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAGGCCCAGAACAATCCAT	0.428													32	55	---	---	---	---	PASS
VPS13B	157680	broad.mit.edu	37	8	100729569	100729569	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100729569A>T	uc003yiv.2	+	37	6811	c.6700A>T	c.(6700-6702)ATA>TTA	p.I2234L	VPS13B_uc003yiw.2_Missense_Mutation_p.I2209L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2234					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATACCAAAAATATCCATTGA	0.418													28	45	---	---	---	---	PASS
VPS13B	157680	broad.mit.edu	37	8	100732672	100732672	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100732672G>A	uc003yiv.2	+	38	6943	c.6832G>A	c.(6832-6834)GAA>AAA	p.E2278K	VPS13B_uc003yiw.2_Missense_Mutation_p.E2253K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2278					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGTTTCTGAACCAGTGCC	0.373													24	40	---	---	---	---	PASS
PKHD1L1	93035	broad.mit.edu	37	8	110471938	110471938	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110471938C>A	uc003yne.2	+	47	7223	c.7119C>A	c.(7117-7119)CTC>CTA	p.L2373L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2373	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTCACACTCCCTGATGGAA	0.353										HNSCC(38;0.096)			16	34	---	---	---	---	PASS
SAMD12	401474	broad.mit.edu	37	8	119209945	119209945	+	3'UTR	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119209945G>A	uc010mda.1	-	5					SAMD12_uc010mdb.1_RNA	NM_001101676	NP_001095146	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12 isoform											ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AAGGCTAACCGTGTTTATGGA	0.443													5	180	---	---	---	---	PASS
ZFAT	57623	broad.mit.edu	37	8	135524749	135524749	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:135524749C>A	uc003yup.2	-	14	3505	c.3330G>T	c.(3328-3330)GCG>GCT	p.A1110A	ZFAT_uc011ljj.1_Silent_p.A229A|ZFAT_uc003yun.2_Silent_p.A1098A|ZFAT_uc003yuo.2_Silent_p.A1098A|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A1098A|ZFAT_uc010mej.2_Silent_p.A1048A	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	1110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGTCCTGGAGCGCGGCCACCG	0.542													76	169	---	---	---	---	PASS
FLJ43860	389690	broad.mit.edu	37	8	142486015	142486015	+	Intron	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142486015C>A	uc003ywi.2	-						FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690								binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCATATAGCACACAGCAAACC	0.502													7	11	---	---	---	---	PASS
PTPRD	5789	broad.mit.edu	37	9	8528747	8528747	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8528747C>A	uc003zkk.2	-	14	1096	c.385G>T	c.(385-387)GAC>TAC	p.D129Y	PTPRD_uc003zkp.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkq.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkr.2_Missense_Mutation_p.D129Y|PTPRD_uc003zks.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkl.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkm.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkn.2_Missense_Mutation_p.D129Y|PTPRD_uc003zko.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkt.1_Missense_Mutation_p.D129Y	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	129	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCCCATGTCAATGGTAGGG	0.468										TSP Lung(15;0.13)			33	22	---	---	---	---	PASS
FREM1	158326	broad.mit.edu	37	9	14842451	14842451	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14842451T>A	uc003zlm.2	-	9	2191	c.1601A>T	c.(1600-1602)GAG>GTG	p.E534V	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	534	CSPG 3.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GGTCTGCCCCTCCTCCAGTTC	0.507													58	46	---	---	---	---	PASS
KLF4	9314	broad.mit.edu	37	9	110250280	110250280	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:110250280G>C	uc004bdh.2	-	3	989	c.368C>G	c.(367-369)TCT>TGT	p.S123C	KLF4_uc004bdf.1_Missense_Mutation_p.S82C|KLF4_uc004bdg.2_Missense_Mutation_p.S132C	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	132	Ser-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						CGACGACGAAGAGGAGGCTGA	0.667													7	1	---	---	---	---	PASS
PALM2-AKAP2	445815	broad.mit.edu	37	9	112642865	112642865	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112642865G>A	uc004bei.2	+	3	353	c.161G>A	c.(160-162)GGC>GAC	p.G54D	PALM2_uc004bef.2_Missense_Mutation_p.G56D|PALM2_uc004beg.2_Missense_Mutation_p.G56D|PALM2_uc004beh.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						CTGCTGCAGGGCATACCCGCT	0.517													4	57	---	---	---	---	PASS
OR2K2	26248	broad.mit.edu	37	9	114090514	114090514	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114090514G>C	uc011lwp.1	-	1	200	c.200C>G	c.(199-201)TCT>TGT	p.S67C		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	96	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATCCATGAAAGAGAGATTTCC	0.418													25	18	---	---	---	---	PASS
TLR4	7099	broad.mit.edu	37	9	120474964	120474964	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120474964G>C	uc004bjz.2	+	3	849	c.558G>C	c.(556-558)AAG>AAC	p.K186N	TLR4_uc004bka.2_Missense_Mutation_p.K146N|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	186	Extracellular (Potential).|LRR 6.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						CCAGCAACAAGATTCAAAGTA	0.388													57	71	---	---	---	---	PASS
RABGAP1	23637	broad.mit.edu	37	9	125758889	125758889	+	Intron	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125758889G>C	uc011lzh.1	+						RABGAP1_uc004bnl.3_Intron	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						GATTTGGTAAGAATTTATTTT	0.294													19	74	---	---	---	---	PASS
CRB2	286204	broad.mit.edu	37	9	126133398	126133398	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126133398C>A	uc004bnx.1	+	8	2069	c.1977C>A	c.(1975-1977)TCC>TCA	p.S659S	CRB2_uc004bnw.1_Silent_p.S659S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	659	Extracellular (Potential).|Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GCTCTGCCTCCTTTCTGCTCC	0.617													4	171	---	---	---	---	PASS
CRB2	286204	broad.mit.edu	37	9	126136902	126136902	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126136902T>A	uc004bnx.1	+	11	3526	c.3434T>A	c.(3433-3435)CTC>CAC	p.L1145H		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	1145	Extracellular (Potential).|EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GTCACCTGCCTCGATGGCAGC	0.657													20	16	---	---	---	---	PASS
LCN8	138307	broad.mit.edu	37	9	139651485	139651485	+	Intron	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139651485C>G	uc004cjb.1	-						LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Intron	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	lipocalin 8						transport	extracellular region	binding			pancreas(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CCCCAGGCCTCTTACCTGTTA	0.642													4	8	---	---	---	---	PASS
MYO3A	53904	broad.mit.edu	37	10	26359340	26359340	+	Intron	SNP	A	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26359340A>C	uc001isn.2	+						MYO3A_uc009xko.1_Intron|MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA						protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						GGTATAATTTATTTTTTTCTC	0.308													27	45	---	---	---	---	PASS
RET	5979	broad.mit.edu	37	10	43600477	43600477	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43600477G>C	uc001jal.2	+	4	893	c.703G>C	c.(703-705)GAG>CAG	p.E235Q	RET_uc001jak.1_Missense_Mutation_p.E235Q|RET_uc010qez.1_5'UTR	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	235	Cadherin.|Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGAGCAGCGGGAGAAGTACGA	0.711		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				14	4	---	---	---	---	PASS
RASGEF1A	221002	broad.mit.edu	37	10	43691988	43691988	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43691988C>T	uc001jap.1	-	12	1438	c.1357G>A	c.(1357-1359)GTC>ATC	p.V453I	RASGEF1A_uc001jao.1_Missense_Mutation_p.V461I	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	453	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						AAGGAGGCGACGAAGAGAGCT	0.562													35	30	---	---	---	---	PASS
ARHGAP22	58504	broad.mit.edu	37	10	49687694	49687694	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49687694C>T	uc001jgt.2	-	4	733	c.436G>A	c.(436-438)GCC>ACC	p.A146T	ARHGAP22_uc001jgs.2_Missense_Mutation_p.A56T|ARHGAP22_uc001jgu.2_Missense_Mutation_p.A146T|ARHGAP22_uc010qgl.1_Intron|ARHGAP22_uc010qgm.1_Missense_Mutation_p.A152T|ARHGAP22_uc001jgv.2_5'UTR|uc001jgw.2_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	146					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1						CCCAGCGGGGCCCAGATGACT	0.667													25	12	---	---	---	---	PASS
PLCE1	51196	broad.mit.edu	37	10	95892112	95892112	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95892112C>T	uc001kjk.2	+	3	2022	c.1388C>T	c.(1387-1389)TCG>TTG	p.S463L	PLCE1_uc010qnx.1_Missense_Mutation_p.S463L|PLCE1_uc001kjm.2_Missense_Mutation_p.S155L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	463					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				ACTTCAATATCGCAGTACATC	0.502													67	45	---	---	---	---	PASS
SORCS1	114815	broad.mit.edu	37	10	108427527	108427527	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108427527C>A	uc001kym.2	-	17	2231	c.2223G>T	c.(2221-2223)CAG>CAT	p.Q741H	SORCS1_uc001kyl.2_Missense_Mutation_p.Q741H|SORCS1_uc009xxs.2_Missense_Mutation_p.Q741H|SORCS1_uc001kyn.1_Missense_Mutation_p.Q741H|SORCS1_uc001kyo.2_Missense_Mutation_p.Q741H	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	741	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCGGCAGGCACTGGCCATTGC	0.453													14	15	---	---	---	---	PASS
MUC5B	727897	broad.mit.edu	37	11	1269877	1269877	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1269877A>T	uc009ycr.1	+	50	13477	c.13351A>T	c.(13351-13353)ACC>TCC	p.T4451S	MUC5B_uc001ltb.2_Missense_Mutation_p.T3926S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3923	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACCACCACCACAACTGT	0.502													5	5	---	---	---	---	PASS
AMPD3	272	broad.mit.edu	37	11	10483143	10483143	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10483143C>A	uc001mio.1	+	2	412	c.77C>A	c.(76-78)GCT>GAT	p.A26D	AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Missense_Mutation_p.A35D|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.A26D|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.A33D|AMPD3_uc009yfy.2_Missense_Mutation_p.A26D	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	26					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGGTGTTTGCTAAAGTGCTC	0.552													57	37	---	---	---	---	PASS
LRP4	4038	broad.mit.edu	37	11	46903277	46903277	+	Silent	SNP	A	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46903277A>G	uc001ndn.3	-	20	2936	c.2790T>C	c.(2788-2790)GCT>GCC	p.A930A		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	930	Extracellular (Potential).|LDL-receptor class B 9.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CATCCAGTCCAGCAAATTCAA	0.493													47	126	---	---	---	---	PASS
APLNR	187	broad.mit.edu	37	11	57004427	57004427	+	Nonsense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57004427C>A	uc001njo.2	-	1	501	c.52G>T	c.(52-54)GAG>TAG	p.E18*	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	18	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						TACTCACACTCAGACTGGTTG	0.582													37	75	---	---	---	---	PASS
TCN1	6947	broad.mit.edu	37	11	59629138	59629138	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59629138G>T	uc001noj.2	-	4	516	c.418C>A	c.(418-420)CCC>ACC	p.P140T		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	140					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAGTCAGGGGAGTGCCATTG	0.448													38	59	---	---	---	---	PASS
SPTBN2	6712	broad.mit.edu	37	11	66472936	66472936	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66472936T>C	uc001ojd.2	-	14	1883	c.1811A>G	c.(1810-1812)TAT>TGT	p.Y604C		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	604	Spectrin 3.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GCAAGGTCTATACTCTGAGAA	0.637													24	34	---	---	---	---	PASS
CPT1A	1374	broad.mit.edu	37	11	68574988	68574988	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68574988C>A	uc001oog.3	-	4	570	c.400G>T	c.(400-402)GGG>TGG	p.G134W	CPT1A_uc001oof.3_Missense_Mutation_p.G134W|CPT1A_uc009ysj.2_Missense_Mutation_p.G134W	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	134	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AACATCCACCCGTGGTAGGAG	0.597													27	38	---	---	---	---	PASS
DLG2	1740	broad.mit.edu	37	11	84245650	84245650	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:84245650T>A	uc001paj.2	-	2	470	c.167A>T	c.(166-168)CAT>CTT	p.H56L	DLG2_uc010rsz.1_Missense_Mutation_p.H56L|DLG2_uc010rta.1_Missense_Mutation_p.H56L|DLG2_uc001pak.2_Missense_Mutation_p.H161L|DLG2_uc001pal.1_Missense_Mutation_p.H56L	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	56						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GACATATCCATGGACATTTTC	0.418													45	94	---	---	---	---	PASS
SFRS2B	10929	broad.mit.edu	37	11	94801046	94801046	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94801046C>A	uc001pff.2	+	2	992	c.657C>A	c.(655-657)CGC>CGA	p.R219R	SFRS2B_uc001pfg.1_5'Flank	NM_032102	NP_115285	Q9BRL6	SRSF8_HUMAN	splicing factor, arginine/serine-rich 2B	219					mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTAGCTCTCGCTCTGCATCAA	0.567													4	103	---	---	---	---	PASS
CNTN5	53942	broad.mit.edu	37	11	99426942	99426942	+	5'UTR	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:99426942G>A	uc001pga.2	+	3					CNTN5_uc009ywv.1_5'UTR|CNTN5_uc001pfz.2_5'UTR|CNTN5_uc001pgb.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long						cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTAGTGACTGAGGATGGCTT	0.353													6	5	---	---	---	---	PASS
RDX	5962	broad.mit.edu	37	11	110126072	110126072	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110126072C>T	uc001pku.2	-	8	1047	c.737G>A	c.(736-738)AGA>AAA	p.R246K	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.R246K|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.R110K	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	246	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGAAATATTTCTGATTTCACT	0.269													17	36	---	---	---	---	PASS
NCAM1	4684	broad.mit.edu	37	11	113105811	113105811	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113105811G>A	uc009yyq.1	+	15	2168	c.1474G>A	c.(1474-1476)GTA>ATA	p.V492I		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	584	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AACGTACGCCGTAAGGCTGGC	0.552													5	10	---	---	---	---	PASS
SCN2B	6327	broad.mit.edu	37	11	118047070	118047070	+	Intron	SNP	A	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118047070A>T	uc001psf.2	-							NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta						synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGATGTGTCTAACTTACCCAA	0.527													39	82	---	---	---	---	PASS
OR6T1	219874	broad.mit.edu	37	11	123813782	123813782	+	Missense_Mutation	SNP	G	T	T	rs76969055		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123813782G>T	uc010sab.1	-	1	764	c.764C>A	c.(763-765)TCC>TAC	p.S255Y		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGAAAGATGGAACTGCCATA	0.522													63	108	---	---	---	---	PASS
OR10G4	390264	broad.mit.edu	37	11	123886704	123886704	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123886704C>A	uc010sac.1	+	1	423	c.423C>A	c.(421-423)GCC>GCA	p.A141A		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGGTGTGCCCTCCTGGCCA	0.557													79	201	---	---	---	---	PASS
ITFG2	55846	broad.mit.edu	37	12	2929267	2929267	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2929267G>C	uc001qlb.1	+	5	486	c.422G>C	c.(421-423)CGT>CCT	p.R141P	ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	141	FG-GAP 2; atypical.										0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GATGGGTGTCGTGAGCTGGTG	0.612													25	36	---	---	---	---	PASS
ANO2	57101	broad.mit.edu	37	12	5853362	5853362	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5853362G>T	uc001qnm.2	-	12	1372	c.1300C>A	c.(1300-1302)CCT>ACT	p.P434T		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	439	Helical; (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						ACGGTGGCAGGGTTGTCAAAC	0.547													27	69	---	---	---	---	PASS
ERGIC2	51290	broad.mit.edu	37	12	29498455	29498455	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29498455T>C	uc001riv.2	-	11	879	c.746A>G	c.(745-747)TAT>TGT	p.Y249C	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	249	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TGTAATAAAATATTGGAACAT	0.313													70	87	---	---	---	---	PASS
GXYLT1	283464	broad.mit.edu	37	12	42499711	42499711	+	Missense_Mutation	SNP	C	A	A	rs76555438		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42499711C>A	uc001rms.3	-	5	998	c.773G>T	c.(772-774)CGC>CTC	p.R258L	GXYLT1_uc001rmt.3_Missense_Mutation_p.R227L	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	258	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						CCTAGCAAAGCGATTATACCA	0.378													34	59	---	---	---	---	PASS
ANKS1B	56899	broad.mit.edu	37	12	100175865	100175865	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100175865C>T	uc001tge.1	-	5	1097	c.680G>A	c.(679-681)GGG>GAG	p.G227E	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.G227E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	227	ANK 7.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAGTGCACTCCCCTTTTCTGT	0.368													10	11	---	---	---	---	PASS
SLC17A8	246213	broad.mit.edu	37	12	100790151	100790151	+	Missense_Mutation	SNP	C	T	T	rs121918339		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100790151C>T	uc010svi.1	+	5	945	c.632C>T	c.(631-633)GCA>GTA	p.A211V	SLC17A8_uc009ztx.2_Missense_Mutation_p.A211V	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	211	Cytoplasmic (Potential).		A -> V (in DFNA25).		neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						AGTAAGTGGGCACCACCTTTG	0.423													30	58	---	---	---	---	PASS
C12orf42	374470	broad.mit.edu	37	12	103699929	103699929	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:103699929C>G	uc001tjt.2	-	5	542	c.454G>C	c.(454-456)GAG>CAG	p.E152Q	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.E152Q|C12orf42_uc001tju.2_Missense_Mutation_p.E57Q	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	152										ovary(1)|central_nervous_system(1)	2						CTGGCTCTCTCCTCAGTTTCT	0.458													28	52	---	---	---	---	PASS
C12orf45	121053	broad.mit.edu	37	12	105388301	105388301	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105388301G>T	uc001tlb.2	+	4	418	c.385G>T	c.(385-387)GAC>TAC	p.D129Y		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	hypothetical protein LOC121053	129											0						AAAAGAAGTGgacagttcaga	0.299													23	28	---	---	---	---	PASS
TMEM132D	121256	broad.mit.edu	37	12	129566569	129566569	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129566569C>A	uc009zyl.1	-	7	1986	c.1658G>T	c.(1657-1659)GGG>GTG	p.G553V	TMEM132D_uc001uia.2_Missense_Mutation_p.G91V	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	553	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCACTGTCCCCGGCAGGCCT	0.622													28	64	---	---	---	---	PASS
ATP8A2	51761	broad.mit.edu	37	13	26411385	26411385	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26411385T>A	uc001uqk.2	+	29	2981	c.2839T>A	c.(2839-2841)TAC>AAC	p.Y947N	ATP8A2_uc010tdi.1_Missense_Mutation_p.Y882N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.Y497N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	907	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCCCCAGCTCTACAAAATCAC	0.488													64	38	---	---	---	---	PASS
POLR1D	51082	broad.mit.edu	37	13	28239962	28239962	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28239962G>A	uc001urp.2	+	3	359	c.241G>A	c.(241-243)GAA>AAA	p.E81K	POLR1D_uc010aam.2_Missense_Mutation_p.E53K|POLR1D_uc001urq.2_RNA	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 2	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CCAGAAAGAAGAAAACCCGAA	0.498													22	25	---	---	---	---	PASS
OR4M1	441670	broad.mit.edu	37	14	20249034	20249034	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20249034G>T	uc010tku.1	+	1	553	c.553G>T	c.(553-555)GTC>TTC	p.V185F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACACAGGTTGTCCGGATTGC	0.458													91	68	---	---	---	---	PASS
CHD8	57680	broad.mit.edu	37	14	21870667	21870667	+	Intron	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21870667T>A	uc001was.1	-						CHD8_uc001war.1_Intron|CHD8_uc001wav.1_Intron	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGGCCTGGTTTAAAATAAA	0.403													17	15	---	---	---	---	PASS
MPP5	64398	broad.mit.edu	37	14	67787835	67787835	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67787835G>A	uc001xjc.2	+	13	2065	c.1599G>A	c.(1597-1599)CGG>CGA	p.R533R	MPP5_uc001xjd.2_Silent_p.R499R|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	533	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGTTTCGCGGCAAGCATTCG	0.443													4	97	---	---	---	---	PASS
ZFYVE26	23503	broad.mit.edu	37	14	68249614	68249614	+	Nonsense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68249614C>A	uc001xka.2	-	21	4394	c.4255G>T	c.(4255-4257)GAA>TAA	p.E1419*	ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.E1419*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1419					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ACCAAGGATTCCTCAAAAGCC	0.537													66	39	---	---	---	---	PASS
FLRT2	23768	broad.mit.edu	37	14	86087896	86087896	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86087896C>A	uc001xvr.2	+	2	805	c.38C>A	c.(37-39)GCT>GAT	p.A13D	FLRT2_uc010atd.2_Missense_Mutation_p.A13D	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	13					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCCATGGGGCTTTTTTCCTG	0.458													51	34	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	15	22489990	22489990	+	IGR	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22489990C>A								OR4N3P (75605 upstream) : MIR1268 (23239 downstream)																							GGGCTGTGGCCCTGGTGACCA	0.512													6	9	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	34064313	34064313	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34064313C>A	uc001zhi.2	+	63	9079	c.9009C>A	c.(9007-9009)TCC>TCA	p.S3003S	RYR3_uc010bar.2_Silent_p.S3003S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3003	Helical; Name=M'; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCTGACGTCCATCTTTGAGC	0.473													22	24	---	---	---	---	PASS
RPAP1	26015	broad.mit.edu	37	15	41813976	41813976	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41813976C>T	uc001zod.2	-	21	3122	c.2998G>A	c.(2998-3000)GAG>AAG	p.E1000K	RPAP1_uc001zoc.2_Missense_Mutation_p.E19K	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1000	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCAGCAGCTCATGGGTGAGG	0.557													15	37	---	---	---	---	PASS
B2M	567	broad.mit.edu	37	15	45007768	45007768	+	Nonsense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45007768C>G	uc001zuc.2	+	2	275	c.215C>G	c.(214-216)TCA>TGA	p.S72*	B2M_uc010uek.1_Nonsense_Mutation_p.S72*|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	72	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTGGAGCATTCAGACTTGTCT	0.418													58	56	---	---	---	---	PASS
SEMA6D	80031	broad.mit.edu	37	15	48062819	48062819	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48062819C>A	uc010bek.2	+	19	2419	c.2059C>A	c.(2059-2061)CGA>AGA	p.R687R	SEMA6D_uc001zvw.2_Silent_p.R625R|SEMA6D_uc001zvy.2_Silent_p.R687R|SEMA6D_uc001zvz.2_Silent_p.R631R|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.R625R|SEMA6D_uc001zwc.2_Silent_p.R612R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	687	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATACTGCTATCGAGACATGTT	0.463													105	60	---	---	---	---	PASS
SHC4	399694	broad.mit.edu	37	15	49127093	49127093	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49127093T>C	uc001zxb.1	-	11	2039	c.1610A>G	c.(1609-1611)GAG>GGG	p.E537G	SHC4_uc010uey.1_Missense_Mutation_p.E294G|SHC4_uc010uez.1_Missense_Mutation_p.E251G	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	537	SH2.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAAGAGGCTCTCTGCCGCCTT	0.537													3	42	---	---	---	---	PASS
NARG2	79664	broad.mit.edu	37	15	60747529	60747529	+	Missense_Mutation	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:60747529T>C	uc002agp.2	-	7	1014	c.779A>G	c.(778-780)CAT>CGT	p.H260R	NARG2_uc002ago.2_Missense_Mutation_p.H123R|NARG2_uc002agq.3_5'Flank|NARG2_uc010bgk.2_Missense_Mutation_p.H260R|NARG2_uc002agr.1_Missense_Mutation_p.H260R	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	260						nucleus				ovary(1)|lung(1)	2						ACTTACATAATGCATAGCTTC	0.368													27	205	---	---	---	---	PASS
C15orf51	196968	broad.mit.edu	37	15	100341348	100341348	+	RNA	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:100341348T>A	uc010urx.1	-	3		c.299A>T			C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_RNA	NR_003260				Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.												0						ATGGAGTGCATGAAGCTGTGG	0.587													42	27	---	---	---	---	PASS
SALL1	6299	broad.mit.edu	37	16	51174483	51174483	+	Silent	SNP	A	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51174483A>T	uc010vgs.1	-	2	1681	c.1650T>A	c.(1648-1650)ACT>ACA	p.T550T	SALL1_uc010vgr.1_Silent_p.T453T|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	550					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTGGTCAGAGTAGGCAGGA	0.577													38	28	---	---	---	---	PASS
WSCD1	23302	broad.mit.edu	37	17	6021315	6021315	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6021315G>T	uc010cli.2	+	8	1561	c.1182G>T	c.(1180-1182)AAG>AAT	p.K394N	WSCD1_uc002gcn.2_Missense_Mutation_p.K394N|WSCD1_uc002gco.2_Missense_Mutation_p.K394N|WSCD1_uc010clj.2_Missense_Mutation_p.K85N	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	394						integral to membrane	sulfotransferase activity				0						CAGGGTTCAAGGGCGAAAAGG	0.542													4	127	---	---	---	---	PASS
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	A	A	rs28934574		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	7	---	---	---	---	PASS
CYB561	1534	broad.mit.edu	37	17	61514793	61514793	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61514793C>A	uc002jap.2	-	1	518	c.116G>T	c.(115-117)CGA>CTA	p.R39L	CYB561_uc002jaq.2_Missense_Mutation_p.R85L|CYB561_uc002jar.2_Missense_Mutation_p.R39L|CYB561_uc002jas.2_Missense_Mutation_p.R39L|CYB561_uc010ddt.2_Missense_Mutation_p.R39L|CYB561_uc002jat.2_Missense_Mutation_p.R39L|CYB561_uc010wpf.1_Missense_Mutation_p.R39L|CYB561_uc010wpg.1_Missense_Mutation_p.R10L	NM_001915	NP_001906	P49447	CY561_HUMAN	cytochrome b-561	39	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(1115;0.0689)		AATGCCGCCTCGGTACAGCCC	0.652													58	22	---	---	---	---	PASS
CARD14	79092	broad.mit.edu	37	17	78164705	78164705	+	Intron	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78164705G>A	uc002jxw.1	+						CARD14_uc002jxt.1_Intron|CARD14_uc002jxv.2_Intron|CARD14_uc010wud.1_Intron|CARD14_uc002jxx.2_Intron|CARD14_uc010dhu.1_Intron	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1						activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAGGTACCTGAGAGGCCGGG	0.642													66	20	---	---	---	---	PASS
CARD14	79092	broad.mit.edu	37	17	78179367	78179367	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78179367G>A	uc002jxw.1	+	19	2802	c.2607G>A	c.(2605-2607)CAG>CAA	p.Q869Q	CARD14_uc002jxt.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	869	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTGGAGCCAGAGAGGGGACA	0.622													8	5	---	---	---	---	PASS
MYOM1	8736	broad.mit.edu	37	18	3215016	3215016	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3215016G>T	uc002klp.2	-	2	540	c.206C>A	c.(205-207)TCC>TAC	p.S69Y	MYOM1_uc002klq.2_Missense_Mutation_p.S69Y	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	69						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CTGCTGCTGGGAGGAGGAGGC	0.692													24	45	---	---	---	---	PASS
RAB12	201475	broad.mit.edu	37	18	8624946	8624946	+	Silent	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8624946C>T	uc002knp.2	+	2	520	c.237C>T	c.(235-237)TTC>TTT	p.F79F		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	79	Effector region (By similarity).				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						GTGTTGACTTCAAAATCAAAA	0.323													52	130	---	---	---	---	PASS
KLHL14	57565	broad.mit.edu	37	18	30260198	30260198	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30260198G>T	uc002kxm.1	-	7	1910	c.1522C>A	c.(1522-1524)CGT>AGT	p.R508S	KLHL14_uc010dmd.1_Missense_Mutation_p.R57S	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	508	Kelch 4.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						TGAATTGCACGTTTTGTGTTC	0.378													33	65	---	---	---	---	PASS
CCDC102B	79839	broad.mit.edu	37	18	66513659	66513659	+	Splice_Site	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66513659G>C	uc002lkk.2	+	6	1159	c.936_splice	c.e6+1	p.E312_splice	CCDC102B_uc002lki.2_Splice_Site_p.E312_splice|CCDC102B_uc002lkj.1_Splice_Site_p.E312_splice	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGTGAAAGAGGTATGGGGGAA	0.398													13	28	---	---	---	---	PASS
ZNF236	7776	broad.mit.edu	37	18	74563729	74563729	+	Splice_Site	SNP	A	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74563729A>G	uc002lmi.2	+	3	391	c.193_splice	c.e3-2	p.P65_splice	ZNF236_uc002lmj.2_Splice_Site|ZNF236_uc002lmk.1_Splice_Site_p.P65_splice	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCTCCAAATAGCCACATCGA	0.398													15	41	---	---	---	---	PASS
TMPRSS9	360200	broad.mit.edu	37	19	2410385	2410385	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2410385C>G	uc010xgx.1	+	8	1145	c.1145C>G	c.(1144-1146)TCC>TGC	p.S382C	TMPRSS9_uc002lvv.1_Missense_Mutation_p.S416C	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	382	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		AAGGTGGACTCCTGCCAGGTG	0.567													18	28	---	---	---	---	PASS
GADD45B	4616	broad.mit.edu	37	19	2477492	2477492	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2477492C>T	uc002lwb.1	+	4	598	c.376C>T	c.(376-378)CAC>TAC	p.H126Y		NM_015675	NP_056490	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	126					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress						0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAACCCTCACACGGACGC	0.592													22	30	---	---	---	---	PASS
GNA15	2769	broad.mit.edu	37	19	3151776	3151776	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3151776G>A	uc002lxf.2	+	4	815	c.557G>A	c.(556-558)CGC>CAC	p.R186H		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	186	GTP (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTCCGCAGCCGCATGCCCACC	0.532													5	166	---	---	---	---	PASS
ZNF557	79230	broad.mit.edu	37	19	7082908	7082908	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7082908C>A	uc002mgb.2	+	8	910	c.425C>A	c.(424-426)GCA>GAA	p.A142E	ZNF557_uc002mga.2_Missense_Mutation_p.A149E|ZNF557_uc002mgc.2_Missense_Mutation_p.A149E	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		CATCTTGGAGCAACACTCAAC	0.388													4	73	---	---	---	---	PASS
COL5A3	50509	broad.mit.edu	37	19	10106803	10106803	+	Intron	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10106803G>A	uc002mmq.1	-							NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			ACCCTTGGGGGAGGAGAGATG	0.597													90	141	---	---	---	---	PASS
OR10H1	26539	broad.mit.edu	37	19	15918067	15918067	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15918067G>A	uc002nbq.2	-	1	870	c.781C>T	c.(781-783)CTG>TTG	p.L261L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTGGGCTTCAGGTAAATGACG	0.557													3	78	---	---	---	---	PASS
KCNN1	3780	broad.mit.edu	37	19	18103854	18103854	+	Intron	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18103854T>C	uc002nht.2	+							NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						CTCTGCCCGGTCCTGCCAGGG	0.602													17	21	---	---	---	---	PASS
LSM4	25804	broad.mit.edu	37	19	18420657	18420657	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18420657G>C	uc002niq.2	-	4	330	c.159C>G	c.(157-159)TTC>TTG	p.F53L		NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN	U6 snRNA-associated Sm-like protein 4	53					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding				0						GCATCCGCCAGAACTTGTCCC	0.642													8	19	---	---	---	---	PASS
ZNF431	170959	broad.mit.edu	37	19	21366407	21366407	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21366407G>T	uc002npp.2	+	5	1448	c.1301G>T	c.(1300-1302)GGC>GTC	p.G434V	ZNF431_uc010ecq.2_Missense_Mutation_p.G343V|ZNF431_uc010ecr.2_Missense_Mutation_p.G435V	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	434	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						GAAGAATGTGGCAAAGCTTTT	0.393													14	29	---	---	---	---	PASS
ZNF708	7562	broad.mit.edu	37	19	21477005	21477005	+	Nonsense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21477005C>A	uc002npq.1	-	4	961	c.763G>T	c.(763-765)GAA>TAA	p.E255*	ZNF708_uc002npr.1_Nonsense_Mutation_p.E191*|ZNF708_uc010ecs.1_Nonsense_Mutation_p.E191*	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	255	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						CCACATTCTTCACATTTGTAG	0.373													15	46	---	---	---	---	PASS
LSM14A	26065	broad.mit.edu	37	19	34712411	34712411	+	Splice_Site	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34712411G>C	uc002nvb.3	+	9	1333	c.1137_splice	c.e9-1	p.R379_splice	LSM14A_uc002nva.3_Splice_Site_p.R379_splice|LSM14A_uc010xru.1_Splice_Site_p.R338_splice|LSM14A_uc002nvc.3_Splice_Site_p.R185_splice	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a						cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					TTTTATAATAGAGAACGGAGA	0.408													18	19	---	---	---	---	PASS
MAG	4099	broad.mit.edu	37	19	35790486	35790486	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35790486G>A	uc002nyy.1	+	5	594	c.445G>A	c.(445-447)GTG>ATG	p.V149M	MAG_uc002nyx.1_Missense_Mutation_p.V149M|MAG_uc010eds.1_Missense_Mutation_p.V124M|MAG_uc002nyz.1_Missense_Mutation_p.V149M	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	149	Ig-like C2-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCCCAGAGGTGGTGGCAGG	0.682													7	14	---	---	---	---	PASS
PRODH2	58510	broad.mit.edu	37	19	36303141	36303141	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36303141C>T	uc002obx.1	-	4	651	c.633G>A	c.(631-633)ATG>ATA	p.M211I		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	211					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACACCGCAGCATAGCACCGA	0.672													32	45	---	---	---	---	PASS
NPHS1	4868	broad.mit.edu	37	19	36322604	36322604	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36322604G>T	uc002oby.2	-	24	3227	c.3227C>A	c.(3226-3228)TCC>TAC	p.S1076Y	NPHS1_uc010eem.1_Intron	NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	1076	Helical; (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGGCATTGGAGAGGAGCAG	0.647													5	8	---	---	---	---	PASS
PLEKHG2	64857	broad.mit.edu	37	19	39914208	39914208	+	Silent	SNP	A	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39914208A>G	uc010xuz.1	+	18	2839	c.2514A>G	c.(2512-2514)GCA>GCG	p.A838A	PLEKHG2_uc010xuy.1_Silent_p.A779A|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.A616A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	838					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACTCGGGCATCAGCCAATG	0.697													3	8	---	---	---	---	PASS
GRIN2D	2906	broad.mit.edu	37	19	48945536	48945536	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48945536G>T	uc002pjc.3	+	12	2658	c.2570G>T	c.(2569-2571)GGC>GTC	p.G857V	GRIN2D_uc010elx.2_Missense_Mutation_p.G92V	NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	857	Helical; (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTGGCCATGGGCCTGTCCCTG	0.622													57	110	---	---	---	---	PASS
BCAT2	587	broad.mit.edu	37	19	49300560	49300560	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49300560C>A	uc002pkr.2	-	7	763	c.726G>T	c.(724-726)CAG>CAT	p.Q242H	BCAT2_uc002pkp.2_Missense_Mutation_p.Q202H|BCAT2_uc002pkq.3_Missense_Mutation_p.Q202H|BCAT2_uc002pks.2_Missense_Mutation_p.Q202H|BCAT2_uc002pkt.2_Missense_Mutation_p.Q150H|BCAT2_uc010emh.1_Missense_Mutation_p.Q242H|BCAT2_uc010emi.1_Missense_Mutation_p.Q150H	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	242						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TGAGTGCCTCCTGTTGCACTA	0.622													12	29	---	---	---	---	PASS
BRSK1	84446	broad.mit.edu	37	19	55814114	55814114	+	Missense_Mutation	SNP	C	T	T	rs144130246		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55814114C>T	uc002qkg.2	+	10	1184	c.907C>T	c.(907-909)CGG>TGG	p.R303W	BRSK1_uc002qkf.2_Missense_Mutation_p.R319W|BRSK1_uc002qkh.2_5'UTR	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	303			R -> W (in a gastric adenocarcinoma sample; somatic mutation).		establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R303W(1)		ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCTGGCCGCCGGGTAGCCAT	0.632													4	95	---	---	---	---	PASS
ZNF667	63934	broad.mit.edu	37	19	56952825	56952825	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56952825G>C	uc002qnd.2	-	5	1701	c.1539C>G	c.(1537-1539)CAC>CAG	p.H513Q	ZNF667_uc010etl.2_Missense_Mutation_p.H295Q|ZNF667_uc002qne.2_Missense_Mutation_p.H513Q|ZNF667_uc010etm.2_Missense_Mutation_p.H456Q	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	513	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTTGGGCGAGGTGTGCACTCT	0.443													27	45	---	---	---	---	PASS
KIF16B	55614	broad.mit.edu	37	20	16336978	16336978	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:16336978G>A	uc002wpg.1	-	23	3776	c.3618C>T	c.(3616-3618)GTC>GTT	p.V1206V	KIF16B_uc002wpe.1_Silent_p.V588V|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Silent_p.V1155V	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1206	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						CACTCACCTTGACCTCAAACT	0.463													31	53	---	---	---	---	PASS
PYGB	5834	broad.mit.edu	37	20	25239970	25239970	+	Missense_Mutation	SNP	A	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25239970A>T	uc002wup.2	+	2	450	c.341A>T	c.(340-342)TAT>TTT	p.Y114F		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	114					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	GAAGCCATCTATCAGGTACAG	0.532													4	66	---	---	---	---	PASS
C20orf160	140706	broad.mit.edu	37	20	30610466	30610466	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30610466G>A	uc002wxf.2	+	6	950	c.937G>A	c.(937-939)GCT>ACT	p.A313T	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	313										central_nervous_system(3)|ovary(1)	4						GGGCCAGGACGCTGCAGAGGA	0.542													7	167	---	---	---	---	PASS
CHD6	84181	broad.mit.edu	37	20	40043904	40043904	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40043904C>A	uc002xka.1	-	34	7039	c.6861G>T	c.(6859-6861)CGG>CGT	p.R2287R	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2287	Poly-Arg.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GCCTCCCTCTCCGCCTCCTCG	0.517													62	98	---	---	---	---	PASS
JPH2	57158	broad.mit.edu	37	20	42789044	42789044	+	Missense_Mutation	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42789044G>A	uc002xli.1	-	2	1256	c.383C>T	c.(382-384)ACG>ATG	p.T128M		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	128	MORN 5.|Gly-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTTGGTACGTCCCTGCGGG	0.721													9	13	---	---	---	---	PASS
SULF2	55959	broad.mit.edu	37	20	46301014	46301014	+	Missense_Mutation	SNP	C	T	T	rs143133611	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46301014C>T	uc002xto.2	-	11	1834	c.1504G>A	c.(1504-1506)GAG>AAG	p.E502K	SULF2_uc002xtr.2_Missense_Mutation_p.E502K|SULF2_uc002xtq.2_Missense_Mutation_p.E502K	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	502					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GTGCAGGCCTCGCTGCCCTGC	0.617													33	44	---	---	---	---	PASS
FAM65C	140876	broad.mit.edu	37	20	49214214	49214214	+	Nonsense_Mutation	SNP	C	A	A	rs150234701	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49214214C>A	uc002xvm.2	-	14	1999	c.1681G>T	c.(1681-1683)GAG>TAG	p.E561*	FAM65C_uc010zyt.1_Nonsense_Mutation_p.E565*|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Nonsense_Mutation_p.E561*	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	561										ovary(2)	2						ATCAGGCTCTCGGCCGAGGTG	0.662													9	13	---	---	---	---	PASS
TSHZ2	128553	broad.mit.edu	37	20	51870967	51870967	+	Missense_Mutation	SNP	G	T	T	rs138844500	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:51870967G>T	uc002xwo.2	+	2	1926	c.970G>T	c.(970-972)GTT>TTT	p.V324F		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	324					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			TAAGAAACGCGTTTTTGATGT	0.458													73	91	---	---	---	---	PASS
ADAMTS1	9510	broad.mit.edu	37	21	28214679	28214679	+	Silent	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28214679T>C	uc002ymf.2	-	2	1511	c.1056A>G	c.(1054-1056)ACA>ACG	p.T352T		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	352	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		AAAGAATTGCTGTGTCATAGT	0.493													18	34	---	---	---	---	PASS
ZNF280A	129025	broad.mit.edu	37	22	22869796	22869796	+	Silent	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22869796T>C	uc002zwe.2	-	2	412	c.159A>G	c.(157-159)TCA>TCG	p.S53S	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GTTTTGAATTTGAAATCATCC	0.438													32	68	---	---	---	---	PASS
RAB36	9609	broad.mit.edu	37	22	23487634	23487634	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23487634C>T	uc002zwv.1	+	1	122	c.82C>T	c.(82-84)CGT>TGT	p.R28C	RAB36_uc010gtw.1_Missense_Mutation_p.R28C	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	28					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GTCGACGATTCGTGTAGCCCG	0.677													43	66	---	---	---	---	PASS
SGSM1	129049	broad.mit.edu	37	22	25251545	25251545	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25251545G>C	uc003abg.2	+	8	856	c.699G>C	c.(697-699)ATG>ATC	p.M233I	SGSM1_uc003abh.2_Missense_Mutation_p.M233I|SGSM1_uc010guu.1_Missense_Mutation_p.M233I|SGSM1_uc003abj.2_Missense_Mutation_p.M233I|SGSM1_uc003abi.1_Missense_Mutation_p.M208I|SGSM1_uc003abf.2_Missense_Mutation_p.M233I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	233						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						GTGGCAGCATGGATGACCGGC	0.572													14	24	---	---	---	---	PASS
MTP18	51537	broad.mit.edu	37	22	30822698	30822698	+	Intron	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30822698C>T	uc003ahw.1	+						SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Intron|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Intron	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN	mitochondrial protein 18 kDa isoform a						apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding				0						AATGTTCCCTCCCCCAGGCTA	0.433											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	21	---	---	---	---	PASS
BPIL2	254240	broad.mit.edu	37	22	32828430	32828430	+	Missense_Mutation	SNP	A	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32828430A>G	uc003amn.2	-	10	1079	c.1079T>C	c.(1078-1080)ATC>ACC	p.I360T	BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.I84T	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	360						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2						GGAGGCAGGGATGTCCAGGGT	0.512													52	109	---	---	---	---	PASS
ELFN2	114794	broad.mit.edu	37	22	37771493	37771493	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37771493C>G	uc003asq.3	-	3	868	c.82G>C	c.(82-84)GAG>CAG	p.E28Q		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	28	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TTGTCGCCCTCAATGAGCCAG	0.692													10	16	---	---	---	---	PASS
EP300	2033	broad.mit.edu	37	22	41548357	41548357	+	Intron	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41548357G>A	uc003azl.3	+							NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GAAAAAGAGTGAGTCTCTGAA	0.473			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				14	25	---	---	---	---	PASS
ATXN3L	92552	broad.mit.edu	37	X	13337109	13337109	+	Silent	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13337109T>C	uc010ned.2	-	1	1410	c.945A>G	c.(943-945)ACA>ACG	p.T315T		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	315					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						TCGAACTTGTTGTTGGCCTTT	0.438													104	143	---	---	---	---	PASS
BEND2	139105	broad.mit.edu	37	X	18189190	18189190	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18189190T>A	uc004cyj.3	-	13	2270	c.2116A>T	c.(2116-2118)AGT>TGT	p.S706C	BEND2_uc010nfb.2_Missense_Mutation_p.S615C	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	706	BEN 2.									ovary(3)|kidney(1)|central_nervous_system(1)	5						TAGACGTTACTTTGGACCAGG	0.438													118	207	---	---	---	---	PASS
PHKA2	5256	broad.mit.edu	37	X	18915420	18915420	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18915420G>T	uc004cyv.3	-	30	3573	c.3143C>A	c.(3142-3144)ACG>AAG	p.T1048K	PHKA2_uc004cyu.3_Missense_Mutation_p.T354K|PHKA2_uc010nfe.1_Missense_Mutation_p.T80K|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1048					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TGAGGATGACGTGCCAGTGGG	0.657													19	48	---	---	---	---	PASS
PDHA1	5160	broad.mit.edu	37	X	19371288	19371288	+	Silent	SNP	G	T	T	rs141862527	byFrequency	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19371288G>T	uc004czg.3	+	5	652	c.507G>T	c.(505-507)GCG>GCT	p.A169A	PDHA1_uc004czh.3_Silent_p.A204A|PDHA1_uc011mjc.1_Silent_p.A173A|PDHA1_uc011mjd.1_Silent_p.A166A|PDHA1_uc010nfk.2_Silent_p.A166A|PDHA1_uc010nfl.2_5'Flank	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	169					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)	TCGTGGGAGCGCAGGTAGTCA	0.488													45	71	---	---	---	---	PASS
MAP3K15	389840	broad.mit.edu	37	X	19398259	19398259	+	Silent	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19398259C>T	uc004czk.1	-	20	2630	c.993G>A	c.(991-993)GAG>GAA	p.E331E	MAP3K15_uc004czj.1_Silent_p.E291E	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	856	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					CTGCCTGCGGCTCACCAAGCT	0.453													12	24	---	---	---	---	PASS
POLA1	5422	broad.mit.edu	37	X	24733279	24733279	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24733279G>T	uc004dbl.2	+	6	489	c.466G>T	c.(466-468)GAT>TAT	p.D156Y	POLA1_uc004dbm.2_Missense_Mutation_p.D162Y|POLA1_uc004dbn.2_Missense_Mutation_p.D20Y	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	156					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	CTTGTCCAAGGATGGTCTGCT	0.383													62	106	---	---	---	---	PASS
MAGEB2	4113	broad.mit.edu	37	X	30237172	30237172	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30237172G>T	uc004dbz.2	+	2	578	c.475G>T	c.(475-477)GGC>TGC	p.G159C		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	159	MAGE.						protein binding			ovary(1)	1						AGCCTCTGAGGGCCTCAGTGT	0.458													23	30	---	---	---	---	PASS
DMD	1756	broad.mit.edu	37	X	32328381	32328381	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32328381C>T	uc004dda.1	-	42	6179	c.5935G>A	c.(5935-5937)GAA>AAA	p.E1979K	DMD_uc004dcw.2_Missense_Mutation_p.E635K|DMD_uc004dcx.2_Missense_Mutation_p.E638K|DMD_uc004dcz.2_Missense_Mutation_p.E1856K|DMD_uc004dcy.1_Missense_Mutation_p.E1975K|DMD_uc004ddb.1_Missense_Mutation_p.E1971K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1979	Spectrin 13.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCGTTTCTTCACGGACAGTG	0.368													20	27	---	---	---	---	PASS
TSPAN7	7102	broad.mit.edu	37	X	38546900	38546900	+	Silent	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38546900C>A	uc004deg.3	+	7	798	c.729C>A	c.(727-729)GCC>GCA	p.A243A	TSPAN7_uc011mkj.1_Silent_p.A269A|TSPAN7_uc011mkk.1_Silent_p.A260A|TSPAN7_uc004deh.2_Silent_p.A151A	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	243	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						TCATCACGGCCAATCAGTATG	0.493													19	35	---	---	---	---	PASS
BCOR	54880	broad.mit.edu	37	X	39922016	39922016	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:39922016C>G	uc004den.3	-	9	4448	c.4156G>C	c.(4156-4158)GAG>CAG	p.E1386Q	BCOR_uc004dep.3_Missense_Mutation_p.E1352Q|BCOR_uc004deo.3_Missense_Mutation_p.E1334Q|BCOR_uc010nhb.2_Missense_Mutation_p.E94Q|BCOR_uc004dem.3_Missense_Mutation_p.E1352Q	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1386					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TCGGCATTCTCCACGTAGTAT	0.587													13	37	---	---	---	---	PASS
USP9X	8239	broad.mit.edu	37	X	41056655	41056655	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41056655G>C	uc004dfb.2	+	29	4905	c.4272G>C	c.(4270-4272)GAG>GAC	p.E1424D	USP9X_uc004dfc.2_Missense_Mutation_p.E1424D	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1424					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GTATTGAAGAGACGATCTTAG	0.458													15	32	---	---	---	---	PASS
USP9X	8239	broad.mit.edu	37	X	41064718	41064718	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41064718G>C	uc004dfb.2	+	32	5620	c.4987G>C	c.(4987-4989)GTG>CTG	p.V1663L	USP9X_uc004dfc.2_Missense_Mutation_p.V1663L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1663					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GCAATACTATGTGCCCAGAGG	0.363													69	126	---	---	---	---	PASS
SYP	6855	broad.mit.edu	37	X	49055482	49055482	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49055482C>A	uc004dmz.1	-	2	63	c.47G>T	c.(46-48)GGG>GTG	p.G16V	SYP_uc011mmz.1_5'UTR|SYP_uc004dna.1_Missense_Mutation_p.G10V	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	16	Cytoplasmic (Potential).				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				GAACTGACCCCCAGCCACCAG	0.632													17	30	---	---	---	---	PASS
GNL3L	54552	broad.mit.edu	37	X	54565501	54565501	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54565501G>A	uc004dth.1	+	3	187	c.48G>A	c.(46-48)AAG>AAA	p.K16K	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	16	Required for nucleolar localization.				ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						AAGGTTCCAAGGGCCACAAGA	0.438													9	20	---	---	---	---	PASS
GNL3L	54552	broad.mit.edu	37	X	54565513	54565513	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54565513G>T	uc004dth.1	+	3	199	c.60G>T	c.(58-60)AAG>AAT	p.K20N	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	20	Required for nucleolar localization.			KK->AA: Loss of nuclear location; when associated with 9-A-A-10. Loss of nuclear location; when associated with 34-A-A-35.	ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						GCCACAAGAAGATAAGTTGGC	0.433													8	17	---	---	---	---	PASS
ITIH5L	347365	broad.mit.edu	37	X	54784647	54784647	+	Silent	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54784647G>T	uc004dtj.2	-	8	1890	c.1860C>A	c.(1858-1860)ACC>ACA	p.T620T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	620					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TCTGTCTCCTGGTCTCCTCAC	0.567													20	38	---	---	---	---	PASS
PAGE2B	389860	broad.mit.edu	37	X	55102489	55102489	+	Silent	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55102489G>C	uc004due.2	+	2	67	c.15G>C	c.(13-15)GTG>GTC	p.V5V		NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	5											0						GTGAGCATGTGAGAACAAGAT	0.363													18	43	---	---	---	---	PASS
FAM123B	139285	broad.mit.edu	37	X	63412739	63412739	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63412739C>A	uc004dvo.2	-	2	701	c.428G>T	c.(427-429)TGT>TTT	p.C143F		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	143					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						AGATGTCTTACATCTGGAGCC	0.517													16	61	---	---	---	---	PASS
SLC7A3	84889	broad.mit.edu	37	X	70148757	70148757	+	Missense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70148757C>A	uc004dyn.2	-	3	624	c.466G>T	c.(466-468)GTG>TTG	p.V156L	SLC7A3_uc004dyo.2_Missense_Mutation_p.V156L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	156	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACATGGGGCACGTGCAGTGCA	0.552													42	42	---	---	---	---	PASS
TAF1	6872	broad.mit.edu	37	X	70602911	70602911	+	Missense_Mutation	SNP	A	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70602911A>C	uc004dzu.3	+	12	1892	c.1841A>C	c.(1840-1842)CAG>CCG	p.Q614P	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.Q635P	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	614					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				AAACTCCGGCAGTTCCATCGC	0.473													23	37	---	---	---	---	PASS
PHKA1	5255	broad.mit.edu	37	X	71822070	71822070	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71822070C>T	uc004eax.3	-	27	3272	c.2971G>A	c.(2971-2973)GCT>ACT	p.A991T	PHKA1_uc004eay.3_Missense_Mutation_p.A991T|PHKA1_uc011mqi.1_Missense_Mutation_p.A932T	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	991					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GCTCCAACAGCACCAATCTCG	0.413													19	44	---	---	---	---	PASS
XIST	7503	broad.mit.edu	37	X	73061342	73061342	+	RNA	SNP	T	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73061342T>G	uc004ebm.1	-	1		c.11247A>C				NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0						TTTCAGTTATTACAAAGAACT	0.433													52	120	---	---	---	---	PASS
PCDH11X	27328	broad.mit.edu	37	X	91090821	91090821	+	Nonsense_Mutation	SNP	C	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91090821C>A	uc004efk.1	+	1	1163	c.318C>A	c.(316-318)TGC>TGA	p.C106*	PCDH11X_uc004efl.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efo.1_Nonsense_Mutation_p.C106*|PCDH11X_uc010nmv.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efm.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efn.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efh.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efj.1_Nonsense_Mutation_p.C106*	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	106	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ATGAGCATTGCTTTTATGAAG	0.403													67	157	---	---	---	---	PASS
PCDH11X	27328	broad.mit.edu	37	X	91090822	91090822	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91090822T>A	uc004efk.1	+	1	1164	c.319T>A	c.(319-321)TTT>ATT	p.F107I	PCDH11X_uc004efl.1_Missense_Mutation_p.F107I|PCDH11X_uc004efo.1_Missense_Mutation_p.F107I|PCDH11X_uc010nmv.1_Missense_Mutation_p.F107I|PCDH11X_uc004efm.1_Missense_Mutation_p.F107I|PCDH11X_uc004efn.1_Missense_Mutation_p.F107I|PCDH11X_uc004efh.1_Missense_Mutation_p.F107I|PCDH11X_uc004efj.1_Missense_Mutation_p.F107I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	107	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TGAGCATTGCTTTTATGAAGT	0.403													66	156	---	---	---	---	PASS
PCDH11X	27328	broad.mit.edu	37	X	91642836	91642836	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91642836C>T	uc004efk.1	+	5	4092	c.3247C>T	c.(3247-3249)CAT>TAT	p.H1083Y	PCDH11X_uc004efl.1_Missense_Mutation_p.H1073Y|PCDH11X_uc004efo.1_Missense_Mutation_p.H1046Y|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.H1083Y|PCDH11X_uc004efn.1_Missense_Mutation_p.H1073Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1083	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAGCACATCTCATGGCCTGCC	0.552													66	108	---	---	---	---	PASS
TRMT2B	79979	broad.mit.edu	37	X	100265657	100265657	+	Silent	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100265657G>C	uc004egq.2	-	13	1727	c.1428C>G	c.(1426-1428)GGC>GGG	p.G476G	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.G476G|TRMT2B_uc004egs.2_3'UTR|TRMT2B_uc004egt.2_Silent_p.G476G|TRMT2B_uc004egu.2_Silent_p.G357G|TRMT2B_uc004egv.2_Silent_p.G431G	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	476							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						CAAAGGGCTCGCCTAAGAGCT	0.502													49	60	---	---	---	---	PASS
TCEAL6	158931	broad.mit.edu	37	X	101396063	101396063	+	Missense_Mutation	SNP	C	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101396063C>T	uc004eiq.2	-	3	402	c.241G>A	c.(241-243)GAG>AAG	p.E81K		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGCTTGCCCTCGCCTTGTGGC	0.502													76	91	---	---	---	---	PASS
IRS4	8471	broad.mit.edu	37	X	107976320	107976320	+	Silent	SNP	T	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107976320T>C	uc004eoc.2	-	1	3288	c.3255A>G	c.(3253-3255)CCA>CCG	p.P1085P		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1085						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						AACGGCTTTGTGGGCGTCTTC	0.552													68	132	---	---	---	---	PASS
WDR44	54521	broad.mit.edu	37	X	117540953	117540953	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117540953G>T	uc004eqn.2	+	10	1922	c.1497G>T	c.(1495-1497)CAG>CAT	p.Q499H	WDR44_uc004eqo.2_Missense_Mutation_p.Q499H|WDR44_uc011mtr.1_Missense_Mutation_p.Q474H|WDR44_uc010nqi.2_Missense_Mutation_p.Q209H	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	499						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						ATTTTGATCAGATCAAAGTGG	0.353													64	109	---	---	---	---	PASS
CUL4B	8450	broad.mit.edu	37	X	119694097	119694097	+	Missense_Mutation	SNP	T	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119694097T>A	uc004esw.2	-	3	888	c.451A>T	c.(451-453)ACA>TCA	p.T151S	CUL4B_uc004esv.2_Missense_Mutation_p.T133S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	151	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TGCTGAGATGTTGCAGCAGTT	0.413													48	58	---	---	---	---	PASS
DCAF12L2	340578	broad.mit.edu	37	X	125298856	125298856	+	Missense_Mutation	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125298856G>T	uc004euk.1	-	1	1079	c.1052C>A	c.(1051-1053)ACA>AAA	p.T351K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	351	WD 4.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CCGCACGCCTGTGCCACCCTC	0.627													48	83	---	---	---	---	PASS
FAM45B	55855	broad.mit.edu	37	X	129629150	129629150	+	Silent	SNP	G	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129629150G>A	uc010nrh.2	+	1	236	c.18G>A	c.(16-18)TTG>TTA	p.L6L	uc004evu.2_RNA	NM_207009	NP_996892			hypothetical protein LOC404636											skin(1)	1				all cancers(201;0.0293)		CGGCCGAGTTGGCGGACACTC	0.502													26	42	---	---	---	---	PASS
SAGE1	55511	broad.mit.edu	37	X	134987551	134987551	+	Missense_Mutation	SNP	C	G	G	rs147659975	by1000genomes	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134987551C>G	uc004ezh.2	+	5	621	c.454C>G	c.(454-456)CAT>GAT	p.H152D	SAGE1_uc010nry.1_Missense_Mutation_p.H121D|SAGE1_uc011mvv.1_Missense_Mutation_p.H152D	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	152										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CAGGGATCTGCGTATGTCTGC	0.408													42	129	---	---	---	---	PASS
MIR513A2	574510	broad.mit.edu	37	X	146307450	146307450	+	RNA	SNP	G	T	T			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146307450G>T	hsa-mir-513a-2|MI0003192	-			c.21G>T																				0						actgcacactgaatggctgaa	0.164													12	13	---	---	---	---	PASS
IDS	3423	broad.mit.edu	37	X	148586591	148586591	+	Missense_Mutation	SNP	G	C	C			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148586591G>C	uc011mxe.1	-	1	275	c.77C>G	c.(76-78)TCC>TGC	p.S26C	IDS_uc011mxf.1_Translation_Start_Site|IDS_uc011mxg.1_Translation_Start_Site|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Missense_Mutation_p.S26C|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Missense_Mutation_p.S26C	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	26						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGCGTTTCGGATCCGAGGGC	0.483													22	58	---	---	---	---	PASS
DNASE1L1	1774	broad.mit.edu	37	X	153633251	153633251	+	Missense_Mutation	SNP	C	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153633251C>G	uc004fks.1	-	4	420	c.229G>C	c.(229-231)GAT>CAT	p.D77H	DNASE1L1_uc004fkt.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fku.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fkv.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fkw.1_Missense_Mutation_p.D77H	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	77					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGAGCCATCAAATCTGCCA	0.587													28	39	---	---	---	---	PASS
MACF1	23499	broad.mit.edu	37	1	39796845	39796856	+	5'UTR	DEL	TTTTTTTTTTTT	-	-	rs71810789		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39796845_39796856delTTTTTTTTTTTT	uc010oiu.1	+	1					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			tctcttttcctttttttttttttttttttttt	0.316													5	3	---	---	---	---	
TM2D1	83941	broad.mit.edu	37	1	62160525	62160526	+	Intron	INS	-	TA	TA	rs149200386	by1000genomes	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62160525_62160526insTA	uc001czz.1	-							NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	beta-amyloid binding protein precursor						apoptosis					ovary(1)	1						TAAACCATTATTATATATATAT	0.272													3	3	---	---	---	---	
AMY1A	276	broad.mit.edu	37	1	104296971	104296972	+	Intron	DEL	TA	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:104296971_104296972delTA	uc001duy.2	+						AMY1A_uc001duz.2_Intron	NM_001008221	NP_001008222	P04745	AMY1_HUMAN	salivary amylase alpha 1A precursor						carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		tgtgtgtgtgtATATATATATA	0.233													4	2	---	---	---	---	
SPAG17	200162	broad.mit.edu	37	1	118501390	118501391	+	Intron	INS	-	TT	TT			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118501390_118501391insTT	uc001ehk.2	-						WDR3_uc001ehi.2_Intron|WDR3_uc010oxe.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTCTTTGGCTTTTTTTTTTT	0.307													4	2	---	---	---	---	
NBPF10	100132406	broad.mit.edu	37	1	146009232	146009233	+	Intron	INS	-	A	A			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146009232_146009233insA	uc001emp.3	+							NM_017940	NP_060410	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC55672												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACTTGCTAAGAAAAAAAAAAA	0.490													6	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	1	226503746	226503746	+	IGR	DEL	T	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226503746delT								LIN9 (6176 upstream) : PARP1 (44647 downstream)																							gAGCACAGCATTTTTTTTTCC	0.040													4	3	---	---	---	---	
SCN1A	6323	broad.mit.edu	37	2	166868923	166868924	+	Intron	DEL	TT	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166868923_166868924delTT	uc010zcz.1	-						SCN1A_uc002udo.3_Intron|SCN1A_uc010fpk.2_Intron	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha							voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTACTGTTACTTTTTTTTTTTC	0.282													4	2	---	---	---	---	
C3orf55	152078	broad.mit.edu	37	3	157295937	157295938	+	Intron	INS	-	T	T	rs112996272		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157295937_157295938insT	uc003fbp.3	+						C3orf55_uc003fbo.2_Intron|C3orf55_uc011bot.1_Intron|C3orf55_uc010hvv.2_Intron	NM_001130002	NP_001123474	A1A4F0	CC055_HUMAN	hypothetical protein LOC152078 isoform 1												0			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			gtacaagaaacttttttttttt	0.109													5	5	---	---	---	---	
CENPE	1062	broad.mit.edu	37	4	104084783	104084783	+	Intron	DEL	G	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104084783delG	uc003hxb.1	-						CENPE_uc003hxc.1_Intron	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		aaaaaaaaaagaaaaagaaaa	0.338													6	3	---	---	---	---	
CAMK2A	815	broad.mit.edu	37	5	149644637	149644637	+	Intron	DEL	C	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149644637delC	uc003lru.2	-						CAMK2A_uc003lrt.2_Intron|CAMK2A_uc010jhe.2_Intron	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II						interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTCCATCTCCCCCTTCTCA	0.597													8	5	---	---	---	---	
FKBP5	2289	broad.mit.edu	37	6	35554641	35554642	+	Intron	DEL	AT	-	-	rs111643517		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35554641_35554642delAT	uc011dte.1	-						FKBP5_uc003okx.2_Intron|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Intron|FKBP5_uc003okz.2_3'UTR	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1						protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						TTTTTTCCACATGATTGTTTTC	0.218													2	8	---	---	---	---	
TNRC18	84629	broad.mit.edu	37	7	5347976	5347977	+	Intron	INS	-	G	G	rs148493175	by1000genomes	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5347976_5347977insG	uc003soi.3	-							NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18								DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGATGGCAGGTGGGGGGCACAG	0.446													6	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	7	45923555	45923558	+	IGR	DEL	TCTT	-	-	rs71935217		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45923555_45923558delTCTT								SEPT7P2 (114938 upstream) : IGFBP1 (4401 downstream)																							CCAGAACCGAtctttctttctttt	0.235													4	2	---	---	---	---	
TLE4	7091	broad.mit.edu	37	9	82267417	82267417	+	Intron	DEL	A	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82267417delA	uc004ald.2	+						TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4											lung(2)|ovary(1)|breast(1)|skin(1)	5						TGGCTTTTTTACTGCCGATTT	0.254													12	16	---	---	---	---	
CIZ1	25792	broad.mit.edu	37	9	130950345	130950347	+	Intron	DEL	CCC	-	-	rs67498296		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130950345_130950347delCCC	uc004btt.2	-						CIZ1_uc004btr.2_Intron|CIZ1_uc004bts.2_Intron|CIZ1_uc011maq.1_Intron|CIZ1_uc004btu.2_Intron|CIZ1_uc011mar.1_Intron|CIZ1_uc011mas.1_Intron|CIZ1_uc004btw.2_Intron|CIZ1_uc004btv.2_Intron|CIZ1_uc004btx.2_Intron	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform							nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						aaaaaaaaaacccaaaacaaaac	0.000													7	5	---	---	---	---	
Unknown	0	broad.mit.edu	37	11	11158570	11158570	+	IGR	DEL	A	-	-	rs10574607		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:11158570delA								ZBED5 (278950 upstream) : GALNTL4 (133851 downstream)																							actctgtctcaaaaaaaaaaa	0.114													3	3	---	---	---	---	
OR5AK2	390181	broad.mit.edu	37	11	56756285	56756285	+	5'Flank	DEL	A	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56756285delA	uc010rjp.1	+							NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						ATACAAATAGAAAAAAGTGAC	0.274													12	11	---	---	---	---	
SLC2A3	6515	broad.mit.edu	37	12	8083375	8083375	+	Intron	DEL	T	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8083375delT	uc001qtr.2	-						SLC2A3_uc001qts.2_Intron	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose						carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TTTTCCTTTCTCTACTCAGCA	0.179													6	3	---	---	---	---	
KNTC1	9735	broad.mit.edu	37	12	123028598	123028598	+	Intron	DEL	A	-	-	rs72319360		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123028598delA	uc001ucv.2	+						KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ctctgtctccaaaaaaaaaaa	0.090													8	4	---	---	---	---	
RAD51	5888	broad.mit.edu	37	15	40993539	40993541	+	Intron	DEL	TTC	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40993539_40993541delTTC	uc001zmi.3	+						RAD51_uc010bbw.2_Intron|RAD51_uc010bbx.2_Intron|RAD51_uc001zmk.3_Intron|RAD51_uc001zml.3_Intron|RAD51_uc001zmm.1_Intron|RAD51_uc001zmn.1_Intron	NM_002875	NP_002866	Q06609	RAD51_HUMAN	RAD51 homolog protein isoform 1						DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		CCTGtttcttttcttcttttctt	0.182								Homologous_recombination					7	5	---	---	---	---	
HDC	3067	broad.mit.edu	37	15	50546973	50546974	+	Intron	INS	-	TCTGTG	TCTGTG	rs71424050		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50546973_50546974insTCTGTG	uc001zxz.2	-						HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Intron|HDC_uc010bet.1_Intron|HDC_uc010beu.1_Intron	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase						catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ctctctctctctgtgtgtgtat	0.307													5	3	---	---	---	---	
MAP2K1	5604	broad.mit.edu	37	15	66679649	66679650	+	5'UTR	INS	-	C	C	rs142027715	by1000genomes	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66679649_66679650insC	uc010bhq.2	+	1						NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1						activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						GGTGCTGCCCTCCCCCCGGAGT	0.619									Cardiofaciocutaneous_syndrome				7	4	---	---	---	---	
CCDC102A	92922	broad.mit.edu	37	16	57554852	57554852	+	Intron	DEL	A	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57554852delA	uc002elw.2	-							NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A											ovary(1)	1						actctgtctcaaaaaaaaaaa	0.179													4	2	---	---	---	---	
FOXN1	8456	broad.mit.edu	37	17	26851370	26851371	+	Intron	INS	-	CTT	CTT	rs138715148	by1000genomes	TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26851370_26851371insCTT	uc010crm.2	+						FOXN1_uc002hbj.2_Intron	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1						defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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 activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					TGAAATCGGGGCCAAGGGTAGG	0.574													4	2	---	---	---	---	
LRRC37A2	474170	broad.mit.edu	37	17	44627768	44627769	+	Intron	INS	-	G	G			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44627768_44627769insG	uc002ikn.1	+						ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Intron|LRRC37A2_uc010dax.1_Intron	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor							integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTTTTGTGTGTTTTTTTTTTTA	0.292													8	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	19	3131446	3131446	+	IGR	DEL	C	-	-	rs66993077		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3131446delC								GNA11 (9994 upstream) : GNA15 (4745 downstream)																							aaaaaaaaaacaaaaaaaaaa	0.348													1	5	---	---	---	---	
PAK4	10298	broad.mit.edu	37	19	39667514	39667515	+	Intron	INS	-	T	T	rs34636072		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39667514_39667515insT	uc002okj.1	+						PAK4_uc002okl.1_Intron|PAK4_uc002okn.1_Intron|PAK4_uc002okm.1_Intron|PAK4_uc002oko.1_Intron|PAK4_uc002okp.1_Intron	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1						cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			ATTCAttcttcttttttttttt	0.282													4	2	---	---	---	---	
ZNF813	126017	broad.mit.edu	37	19	53983619	53983620	+	Intron	DEL	AA	-	-	rs35502614		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53983619_53983620delAA	uc002qbu.2	+							NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GTTGTGATGTAAAAAAAAAAAA	0.361													4	4	---	---	---	---	
AIFM3	150209	broad.mit.edu	37	22	21327882	21327899	+	Intron	DEL	GGTCGGGGTTGGCCTGAA	-	-	rs72015254		TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21327882_21327899delGGTCGGGGTTGGCCTGAA	uc002ztj.2	+						AIFM3_uc002ztk.2_Intron|AIFM3_uc002ztl.2_Intron|AIFM3_uc011ahx.1_Intron|AIFM3_uc002ztm.1_5'Flank	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,						activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-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;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATAGCCGGGGGTCGGGGTTGGCCTGAAGGGGCTATGA	0.665													6	3	---	---	---	---	
EIF1AX	1964	broad.mit.edu	37	X	20154350	20154351	+	Intron	DEL	CA	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:20154350_20154351delCA	uc004czt.2	-						SCARNA9L_uc010nfp.2_RNA	NM_001412	NP_001403	P47813	IF1AX_HUMAN	X-linked eukaryotic translation initiation							cytosol	translation initiation factor activity			ovary(1)	1						CGTGTGCGTGCACACACACACA	0.441													9	4	---	---	---	---	
ITM2A	9452	broad.mit.edu	37	X	78618459	78618459	+	Frame_Shift_Del	DEL	T	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:78618459delT	uc004edh.2	-	3	756	c.421delA	c.(421-423)ATTfs	p.I141fs	ITM2A_uc011mqr.1_Frame_Shift_Del_p.I97fs	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	141	BRICHOS.					integral to membrane	protein binding			lung(2)	2						TCATGAATAATTGCTGCAGGG	0.408													42	24	---	---	---	---	
Unknown	0	broad.mit.edu	37	X	146882790	146882790	+	IGR	DEL	T	-	-			TCGA-34-5929-01A-11D-1817-08	TCGA-34-5929-11A-01D-1817-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146882790delT								MIR514-3 (516544 upstream) : ASFMR1 (108159 downstream)																							AGGCCAAAAGTTTTGTAAACA	0.318													32	20	---	---	---	---	
