Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
C1orf86	199990	broad.mit.edu	37	1	2125232	2125232	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:2125232C>T	uc001aix.2	-	6	1076	c.303G>A	c.(301-303)acG>acA	p.T101T	C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Missense_Mutation_p.G106R	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN	Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.	79										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-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;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTCCTGCCCCGTGAAGCAGC	0.692												
SPEN	23013	broad.mit.edu	37	1	16260992	16260992	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:16260992G>A	uc001axk.1	+	10	8461	c.8257G>A	c.(8257-8259)Gta>Ata	p.V2753I	SPEN_uc010obp.1_Missense_Mutation_p.V2712I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2753	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCTGGTGGTGTAACGGCCAC	0.577												
OPRD1	4985	broad.mit.edu	37	1	29189500	29189500	+	Missense_Mutation	SNP	C	C	T	rs139895939		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:29189500C>T	uc001brf.1	+	2	1066	c.824C>T	c.(823-825)gCg>gTg	p.A275V		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	275					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GTGTGTTGGGCGCCCATCCAC	0.672												
PTPN22	26191	broad.mit.edu	37	1	114380721	114380721	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:114380721G>A	uc001eds.3	-	12	1431	c.1301C>T	c.(1300-1302)gCa>gTa	p.A434V	PTPN22_uc021orx.1_Missense_Mutation_p.A434V|PTPN22_uc009wgq.3_Missense_Mutation_p.A379V|PTPN22_uc021ory.1_Missense_Mutation_p.A410V|PTPN22_uc010owo.2_Missense_Mutation_p.A190V|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.A434V|PTPN22_uc009wgs.2_Missense_Mutation_p.A307V|PTPN22_uc001edu.2_Missense_Mutation_p.A434V	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	434					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		ATATCTTCCTGCTGCATTTAC	0.408												
IGSF3	3321	broad.mit.edu	37	1	117142794	117142794	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117142794G>A	uc001egq.1	-	7	2563	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	IGSF3_uc001egr.1_Missense_Mutation_p.R600W|IGSF3_uc001egs.1_Missense_Mutation_p.R273W	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	600	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	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)		CCTCCGTCCCGGGTGAAGGTC	0.622												
VTCN1	79679	broad.mit.edu	37	1	117690323	117690323	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117690323C>A	uc001ehb.3	-	4	911	c.806G>T	c.(805-807)aGc>aTc	p.S269I	VTCN1_uc021osn.1_Missense_Mutation_p.S174I|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.S174I|VTCN1_uc009whf.2_Missense_Mutation_p.S153I	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	269						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AAGTGCCCAGCTGATGGCAAA	0.448												
C1orf110	339512	broad.mit.edu	37	1	162829260	162829260	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:162829260C>A	uc001gck.2	-	1	352	c.177G>T	c.(175-177)agG>agT	p.R59S	C1orf110_uc009wux.1_Missense_Mutation_p.R59S	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	59										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CTTGCTGCAACCTCTGCAGTT	0.547												
CYB5R1	51706	broad.mit.edu	37	1	202932844	202932844	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:202932844T>C	uc001gyt.2	-	6	642	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	CYB5R1_uc010pqe.1_Non-coding_Transcript	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.	191					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCTGTAGCATTGGGGTGATT	0.512												
SMYD3	64754	broad.mit.edu	37	1	246078867	246078867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:246078867C>A	uc001ibl.3	-	7	903	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	SMYD3_uc001ibk.3_Nonsense_Mutation_p.E201*|SMYD3_uc001ibj.3_Nonsense_Mutation_p.E71*	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	260						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CAGTCACATTCAAAGCAGTAC	0.512												
OPTN	10133	broad.mit.edu	37	10	13174131	13174131	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:13174131A>G	uc001ilu.1	+	13	1904	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R	OPTN_uc001ilv.1_Missense_Mutation_p.K489R|OPTN_uc001ilw.1_Missense_Mutation_p.K489R|OPTN_uc001ilx.1_Missense_Mutation_p.K489R|OPTN_uc001ily.1_Missense_Mutation_p.K483R|OPTN_uc010qbr.1_Missense_Mutation_p.K432R	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	489	Interaction with HD.|Interaction with MYO6.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CATGAGGAAAAGGAGCAACTG	0.443												
CCDC7	221016	broad.mit.edu	37	10	32780862	32780862	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:32780862C>T	uc001iwj.3	+	9	1379	c.809C>T	c.(808-810)tCa>tTa	p.S270L	CCDC7_uc009xlu.2_Intron|CCDC7_uc001iwk.3_Missense_Mutation_p.S270L|CCDC7_uc009xlv.3_Intron|CCDC7_uc009xly.1_Intron|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Intron	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	270										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ACTGCTCATTCAATGACTAAT	0.264												
SLC18A3	6572	broad.mit.edu	37	10	50819867	50819867	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:50819867G>A	uc001jhw.3	+	0	1521	c.1081G>A	c.(1081-1083)Gcg>Acg	p.A361T	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	361					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.A361V(1)|p.A361A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTGTACGGCGCGCTTGGGCT	0.687												
LIPF	8513	broad.mit.edu	37	10	90428330	90428330	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:90428330T>A	uc001kfg.2	+	3	353	c.239T>A	c.(238-240)gTg>gAg	p.V80E	LIPF_uc009xtk.3_Missense_Mutation_p.V80E|LIPF_uc001kfh.2_Intron|LIPF_uc010qmt.2_Missense_Mutation_p.V90E|LIPF_uc010qmu.2_Intron	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	80					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AGACCTGTTGTGTTTTTGCAG	0.408												
DMBT1	1755	broad.mit.edu	37	10	124395540	124395540	+	Silent	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:124395540A>G	uc001lgk.1	+	49	6301	c.6195A>G	c.(6193-6195)gaA>gaG	p.E2065E	DMBT1_uc001lgl.1_Silent_p.E2055E|DMBT1_uc001lgm.1_Silent_p.E1437E|DMBT1_uc021qaf.1_Silent_p.E2065E|DMBT1_uc021qag.1_Silent_p.E2055E|DMBT1_uc021qah.1_Silent_p.E1437E|DMBT1_uc009xzz.1_Silent_p.E2064E|DMBT1_uc010qtx.1_Silent_p.E785E|DMBT1_uc009yab.1_Silent_p.E768E|DMBT1_uc009yac.1_Silent_p.E359E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2065	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTATATTGAAGTTTTCGATG	0.507												
NLRP14	338323	broad.mit.edu	37	11	7083705	7083705	+	Silent	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:7083705A>G	uc001mfb.1	+	9	3269	c.2946A>G	c.(2944-2946)agA>agG	p.R982R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	982					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGCTTTGAGATATCCAAACT	0.403												
RNF141	50862	broad.mit.edu	37	11	10536581	10536581	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:10536581C>T	uc001mis.1	-	5	728	c.575G>A	c.(574-576)cGc>cAc	p.R192H	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	192							zinc ion binding	p.R192H(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CATCTGTAGGCGACAAATAGG	0.383												
WT1	7490	broad.mit.edu	37	11	32421505	32421505	+	Silent	SNP	T	T	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:32421505T>G	uc001mtn.2	-	5	1277	c.1087A>C	c.(1087-1089)Aga>Cga	p.R363R	WT1_uc001mtl.2_Silent_p.R151R|WT1_uc001mtm.2_Silent_p.R134R|WT1_uc001mto.2_Silent_p.R363R|WT1_uc001mtq.2_Silent_p.R346R|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	295					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R362*(2)|p.R362fs*17(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGAATGCCTCTGAAGACACCG	0.557			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome			
CHRM1	1128	broad.mit.edu	37	11	62677224	62677224	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:62677224C>T	uc021qko.1	-	0	1349	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	CHRM1_uc001nwi.3_Missense_Mutation_p.G450D	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	450					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GTGCACGGAGCCAGGGCGCTT	0.657												
STIP1	10963	broad.mit.edu	37	11	63961718	63961718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:63961718C>T	uc001nyk.1	+	2	424	c.277C>T	c.(277-279)Cga>Tga	p.R93*	STIP1_uc001nyj.3_Nonsense_Mutation_p.R93*|STIP1_uc010rnb.1_Intron	NM_006819	NP_006810	P31948	STIP1_HUMAN	Homo sapiens stress-induced-phosphoprotein 1 (STIP1), mRNA.	93					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAAGCCAAGCGAACCTATGA	0.468												
GRAMD1B	57476	broad.mit.edu	37	11	123471245	123471245	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:123471245C>G	uc001pyw.2	+	7	960	c.631C>G	c.(631-633)Ctc>Gtc	p.L211V	GRAMD1B_uc001pyx.2_Missense_Mutation_p.L204V|GRAMD1B_uc010rzw.2_Missense_Mutation_p.L164V|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L164V|GRAMD1B_uc009zbe.1_Missense_Mutation_p.L200V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	204						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCAGAATGCTCTCCTTGAAAA	0.458												
OVCH1	341350	broad.mit.edu	37	12	29630051	29630051	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:29630051T>C	uc001rix.1	-	11	1361	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	454	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATGTGCTTCTCTGGAGCACA	0.393												
H3F3C	440093	broad.mit.edu	37	12	31944946	31944946	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:31944946C>T	uc001rkr.3	-	0	230	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	52					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CTGATAACGACGAATCTCTCG	0.582										HNSCC(67;0.2)		
GALNT6	11226	broad.mit.edu	37	12	51773383	51773383	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:51773383C>T	uc001ryk.2	-	1	408	c.183G>A	c.(181-183)atG>atA	p.M61I	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.M61I|GALNT6_uc010snh.1_Missense_Mutation_p.M61I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	61					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAAGGTTGTTCATGGCCTCCA	0.552												
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:55714592C>T	uc010spi.2	+	0	209	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378												
RPL14P1	144581	broad.mit.edu	37	12	63359117	63359117	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:63359117C>T								PPM1H (30202 upstream) : AVPR1A (181099 downstream)																							GGTGTTCAGGCGCTTCGTGGA	0.468												
GLT8D2	83468	broad.mit.edu	37	12	104387178	104387178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:104387178C>G	uc001tkh.1	-	9	1429	c.872G>C	c.(871-873)aGg>aCg	p.R291T	GLT8D2_uc001tki.1_Missense_Mutation_p.R291T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	291						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ACCCAGGTGCCTTATGTGCCA	0.458												
DCLK1	9201	broad.mit.edu	37	13	36686060	36686060	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36686060G>A	uc001uvf.3	-	2	952	c.669C>T	c.(667-669)gcC>gcT	p.A223A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	223	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGCTTGATGGCATCGGTGA	0.488												
SPG20	23111	broad.mit.edu	37	13	36909291	36909291	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36909291T>C	uc001uvn.3	-	2	947	c.677A>G	c.(676-678)aAt>aGt	p.N226S	SPG20_uc010ten.2_Missense_Mutation_p.N226S|SPG20_uc001uvm.3_Missense_Mutation_p.N226S|SPG20_uc001uvo.3_Missense_Mutation_p.N226S|SPG20_uc001uvq.3_Missense_Mutation_p.N226S|SPG20_uc001uvp.2_Missense_Mutation_p.N226S	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	226					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTGTACTCCATTTGGTATCAA	0.423												
CTSG	1511	broad.mit.edu	37	14	25043946	25043946	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:25043946G>A	uc001wpq.3	-	2	311	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	92	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATGGCTCTGCGCGCAGTGATG	0.532												
ARHGAP5	394	broad.mit.edu	37	14	32560334	32560334	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:32560334G>A	uc001wrl.3	+	1	698	c.459G>A	c.(457-459)aaG>aaA	p.K153K	ARHGAP5_uc001wrm.3_Silent_p.K153K|ARHGAP5_uc001wrn.3_Silent_p.K153K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	153					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGAAGGGAAGCTCAACGTAG	0.363												
PTGDR	5729	broad.mit.edu	37	14	52735336	52735336	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:52735336G>A	uc001wzq.3	+	0	906	c.804G>A	c.(802-804)gcG>gcA	p.A268A		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	268						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGCTGCTGGCGCTGATGACCG	0.687												
CDAN1	146059	broad.mit.edu	37	15	43028860	43028860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43028860delG	uc001zql.3	-	1	326	c.209delC	c.(208-210)ccgfs	p.P70fs	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	70						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGCGGGGGTCGGGGGCCCCTG	0.736												
TGM7	116179	broad.mit.edu	37	15	43571424	43571424	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43571424G>A	uc001zrf.1	-	10	1735	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	577					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T577M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTTTTCGTCCGTTAGCTTGTT	0.527												
ATP8B4	79895	broad.mit.edu	37	15	50226281	50226281	+	Silent	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:50226281G>T	uc001zxu.3	-	14	1528	c.1386C>A	c.(1384-1386)ccC>ccA	p.P462P	ATP8B4_uc010ber.3_Silent_p.P335P|ATP8B4_uc010ufd.2_Silent_p.P335P|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	462					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATGAACTTTGGGATCACCCA	0.413												
NEDD4	4734	broad.mit.edu	37	15	56207523	56207523	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:56207523T>G	uc002adj.3	-	0	1807	c.1507A>C	c.(1507-1509)Agc>Cgc	p.S503R	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.S503R|NEDD4_uc010ugj.2_Missense_Mutation_p.S503R|NEDD4_uc010bfm.3_Missense_Mutation_p.S503R|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	503					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCTCTGTTGCTGTCTCTTGAT	0.338												
KIAA1024	23251	broad.mit.edu	37	15	79748562	79748562	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:79748562G>A	uc002bew.1	+	1	148	c.73G>A	c.(73-75)Gtt>Att	p.V25I	KIAA1024_uc010unk.1_Missense_Mutation_p.V25I	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	25						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCAAAATACCGTTTCTTATCA	0.478												
ADAMTSL3	57188	broad.mit.edu	37	15	84659966	84659966	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:84659966G>T	uc002bjz.4	+	23	4197	c.3973_splice	c.e23+1	p.G1325_splice	ADAMTSL3_uc010bmt.1_Splice_Site_p.G1325_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCTGTAAAAGGTAAGTGTGG	0.502												
CHD9	80205	broad.mit.edu	37	16	53338029	53338037	+	In_Frame_Del	DEL	TAAAGGTAT	TAAAGGTAT	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:53338029_53338037delTAAAGGTAT	uc002ehb.3	+	29	6275_6283	c.6111_6119delTAAAGGTAT	c.(6109-6120)gctaaaggtatt>gct	p.KGI2038del	CHD9_uc002egy.3_In_Frame_Del_p.KGI2038del|CHD9_uc002ehc.3_In_Frame_Del_p.KGI2038del|CHD9_uc002ehf.3_In_Frame_Del_p.KGI1152del|CHD9_uc002ehg.2_In_Frame_Del_p.KGI1152del|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2038					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCCTAGATGCTAAAGGTATTATTCTAGAG	0.407												
TUBB8P7	197331	broad.mit.edu	37	16	90160836	90160836	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:90160836C>T	uc002fqq.3	+	1	144	c.144C>T	c.(142-144)aaC>aaT	p.N48N	BC139719_uc002fqp.3_Silent_p.N103N					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		AGCGCGTCAACGTGCACCACC	0.701												
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	Silent	SNP	G	G	A	rs13337896	by1000genomes	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:90161578G>A	uc002fqq.3	+	3	504	c.504G>A	c.(502-504)acG>acA	p.T168T	BC139719_uc002fqp.3_Silent_p.T151T					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587												
MYH13	8735	broad.mit.edu	37	17	10209843	10209843	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10209843C>T	uc002gmk.1	-	36	5489	c.5399G>A	c.(5398-5400)cGt>cAt	p.R1800H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1800					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.H1799N(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCATCTAGACGGTGCTGCAG	0.547												
MYH8	4626	broad.mit.edu	37	17	10322097	10322097	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10322097C>A	uc002gmm.2	-	4	471	c.376G>T	c.(376-378)Gtc>Ttc	p.V126F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	126	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACGGTGACACAGAAGAGG	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling			
AOC2	314	broad.mit.edu	37	17	41001205	41001205	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:41001205T>G	uc002ibu.3	+	1	1726	c.1691T>G	c.(1690-1692)gTc>gGc	p.V564G	AOC2_uc002ibt.3_Missense_Mutation_p.V564G|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	564					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTCGGCAGGTCCTGGGAAAG	0.597												
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308												
XYLT2	64132	broad.mit.edu	37	17	48435599	48435599	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:48435599T>C	uc002iqo.3	+	9	2082	c.1973T>C	c.(1972-1974)cTt>cCt	p.L658P	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	658					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AAAGAGCGTCTTTTCCGGAAC	0.637												
RNF43	54894	broad.mit.edu	37	17	56492699	56492699	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:56492699T>C	uc002iwf.3	-	0	2196	c.240A>G	c.(238-240)ggA>ggG	p.G80G	RNF43_uc010wnv.2_Silent_p.G80G|RNF43_uc002iwh.4_Silent_p.G80G|RNF43_uc002iwg.4_Silent_p.G80G|RNF43_uc010dcw.3_Intron	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	80						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATTAATTTTCCTTCTGCTG	0.378												
DDX5	1655	broad.mit.edu	37	17	62502217	62502217	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:62502217G>C	uc010deh.2	-						CEP95_uc002jem.3_5'Flank|CEP95_uc002jen.3_5'Flank|CEP95_uc010wqb.2_5'Flank|DDX5_uc002jek.2_Missense_Mutation_p.D7E|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.D7E|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.						cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CGCGGTCTCGGTCACTCGAAT	0.657			T	ETV4	prostate							
LAMA1	284217	broad.mit.edu	37	18	6956660	6956660	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:6956660A>T	uc002knm.3	-	55	8163	c.8069T>A	c.(8068-8070)cTc>cAc	p.L2690H	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.L143H|LAMA1_uc010wzj.2_Missense_Mutation_p.L2166H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2690					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTGGCAAGAGCTTGCTGTC	0.552												
RIT2	6014	broad.mit.edu	37	18	40554049	40554049	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:40554049G>T	uc002lav.3	-	2	397	c.224C>A	c.(223-225)aCt>aAt	p.T75N	RIT2_uc010dnf.3_Missense_Mutation_p.T75N	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	75					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGCCAGCAGTGTCCAAGAT	0.368												
BCL2	596	broad.mit.edu	37	18	60795928	60795929	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:60795928_60795929delAG	uc002lit.1	-	2	1142_1143	c.649_650delCT	c.(649-651)ctgfs	p.L217fs	BCL2_uc002liu.1_Frame_Shift_Del_p.L217fs	NM_000633	NP_000624	P10415	BCL2_HUMAN	Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	217					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CAGAGTCTTCAGAGACAGCCAG	0.545			T	IGH@	"""NHL, CLL"""							
DNM2	1785	broad.mit.edu	37	19	10886491	10886491	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:10886491G>A	uc002mpt.2	+	3	688	c.498G>A	c.(496-498)cgG>cgA	p.R166R	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.R166R|DNM2_uc010dxl.2_Silent_p.R166R|DNM2_uc002mpu.2_Silent_p.R166R|DNM2_uc002mpv.2_Silent_p.R166R	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	166					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCATCAGCCGGGAGAGCAGCC	0.607			"""F, N, Splice, Mis, O"""		ETP ALL							
RGL3	57139	broad.mit.edu	37	19	11526753	11526753	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:11526753G>A	uc002mro.2	-	4	561	c.497C>T	c.(496-498)tCg>tTg	p.S166L	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Missense_Mutation_p.S166L	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	166	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCCCAGGTCCGAATGGGCAGG	0.617												
ZNF433	163059	broad.mit.edu	37	19	12126556	12126556	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:12126556delA	uc002msy.1	-	3	1297	c.1126delT	c.(1126-1128)tatfs	p.Y376fs	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.Y341fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CTGGGAGAATAAAAGGCTTTC	0.373												
PEG3	5178	broad.mit.edu	37	19	57325278	57325278	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:57325278G>C	uc002qnu.2	-	6	4883	c.4532C>G	c.(4531-4533)aCa>aGa	p.T1511R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T1482R|PEG3_uc002qnv.2_Missense_Mutation_p.T1511R|PEG3_uc002qnw.2_Missense_Mutation_p.T1387R|PEG3_uc002qnx.2_Missense_Mutation_p.T1385R|PEG3_uc010etr.2_Missense_Mutation_p.T1511R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1511	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGGTTTCTGTGCATTCATG	0.483												
SEMA4F	10505	broad.mit.edu	37	2	74900663	74900663	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:74900663G>A	uc002sna.1	+	5	741	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.E210E|SEMA4F_uc010ffq.1_Silent_p.E177E|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	210	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGTGCCGAGGACTGGATTC	0.612												
REV1	51455	broad.mit.edu	37	2	100065960	100065960	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:100065960G>C	uc002tad.3	-	3	400	c.188C>G	c.(187-189)tCc>tGc	p.S63C	REV1_uc002tac.3_Missense_Mutation_p.S63C|REV1_uc002tae.1_Missense_Mutation_p.S42C	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	63	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCTCAGCGGAAGGATCTGC	0.313								Direct reversal of damage				
CNTNAP5	129684	broad.mit.edu	37	2	125530548	125530548	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:125530548G>A	uc010flu.3	+	16	3070	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	CNTNAP5_uc002tno.3_Silent_p.S901S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	901	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGAGACGTCGGAGGAGGGCC	0.532												
POTEE	445582	broad.mit.edu	37	2	132021658	132021658	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:132021658G>A	uc002tsn.2	+	14	2682	c.2630G>A	c.(2629-2631)cGc>cAc	p.R877H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R477H|POTEE_uc002tsl.2_Missense_Mutation_p.R459H|POTEE_uc010fmy.1_Missense_Mutation_p.R341H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	877	Actin-like.						ATP binding										GCCACCCTGCGCCTAGACCTG	0.612												
TTN	7273	broad.mit.edu	37	2	179458769	179458769	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179458769G>A	uc021vsy.1	-	245	50872	c.50647C>T	c.(50647-50649)Cgt>Tgt	p.R16883C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578C|TTN_uc021vta.1_Missense_Mutation_p.R10511C|TTN_uc021vtb.1_Missense_Mutation_p.R10386C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17810	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTGAACGTTTGGCCTTG	0.423												
CCDC141	285025	broad.mit.edu	37	2	179720232	179720232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179720232delT	uc002une.2	-	18	3020	c.2902delA	c.(2902-2904)accfs	p.T968fs	CCDC141_uc002unf.1_Frame_Shift_Del_p.T447fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	393							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAATCAGAGGTTTTATTACTA	0.284												
WDR75	84128	broad.mit.edu	37	2	190313200	190313200	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:190313200C>T	uc002uql.1	+	1	242	c.182C>T	c.(181-183)aCt>aTt	p.T61I	WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	61						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AATCTGGTGACTGGAATCCAG	0.398												
TRIP12	9320	broad.mit.edu	37	2	230683176	230683176	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:230683176T>C	uc002vpx.1	-	8	1612	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	TRIP12_uc021vxw.1_Silent_p.Q459Q|TRIP12_uc002vpy.1_Silent_p.Q156Q|TRIP12_uc002vpw.1_Silent_p.Q453Q|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Silent_p.Q459Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	453					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		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)		CCTGAAGCTGTTGACTTTCAT	0.388												
ILKAP	80895	broad.mit.edu	37	2	239079263	239079263	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:239079263C>T	uc002vxv.3	-	11	1223	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	ILKAP_uc010zns.2_Missense_Mutation_p.A297T|ILKAP_uc002vxw.3_Missense_Mutation_p.A245T|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.A247T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	365	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTGCAGGCTGCTTCGTAGCGG	0.637												
PTPRA	5786	broad.mit.edu	37	20	3002794	3002794	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:3002794G>A	uc010zqd.2	+	13	1606	c.1289G>A	c.(1288-1290)gGc>gAc	p.G430D	PTPRA_uc002whj.3_Missense_Mutation_p.G419D|PTPRA_uc002whk.3_Missense_Mutation_p.G410D|PTPRA_uc002whl.3_Missense_Mutation_p.G410D|PTPRA_uc002whm.3_Missense_Mutation_p.G186D|PTPRA_uc002whn.3_Missense_Mutation_p.G410D|PTPRA_uc002who.3_Missense_Mutation_p.G82D	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	419	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCCCGATCGGCATGCTCAAG	0.572												
RIN2	54453	broad.mit.edu	37	20	19981289	19981289	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:19981289C>T	uc002wro.2	+	11	2693	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	RIN2_uc010gcu.2_Silent_p.N366N|RIN2_uc010gcv.2_Silent_p.N593N	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	799	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGGAGGTCAACAGTGGTTGCA	0.507												
AURKA	6790	broad.mit.edu	37	20	54963223	54963223	+	Missense_Mutation	SNP	C	C	T	rs6069717		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:54963223C>T	uc002xxe.1	-	2	288	c.31G>A	c.(31-33)Gga>Aga	p.G11R	AURKA_uc002xxf.1_Missense_Mutation_p.G11R|AURKA_uc002xxg.1_Missense_Mutation_p.G11R|AURKA_uc002xxh.1_Missense_Mutation_p.G11R|AURKA_uc002xxi.1_Missense_Mutation_p.G11R|AURKA_uc002xxj.1_Missense_Mutation_p.G11R|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.G11R	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	11			G -> R (in dbSNP:rs6069717).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	p.G11*(2)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTAACAGGTCCTGAAATGCAG	0.383												
MORC3	23515	broad.mit.edu	37	21	37732374	37732374	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:37732374A>G	uc002yvi.3	+	11	1407	c.1331_splice	c.e11+1	p.R444_splice		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	444					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCCACAGTTCAGGTACCATAG	0.433												
SH3BGR	6450	broad.mit.edu	37	21	40883645	40883645	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:40883645C>T	uc002yya.3	+	5	717	c.663C>T	c.(661-663)gcC>gcT	p.A221A	SH3BGR_uc002yxz.3_Silent_p.A110A	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	221	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AAGGGGAAGCCGAGGAGGAGG	0.448												
TPST2	8459	broad.mit.edu	37	22	26937392	26937392	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr22:26937392G>A	uc003acw.3	-	2	546	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	TPST2_uc003acx.3_Missense_Mutation_p.P69S|TPST2_uc011akf.1_Missense_Mutation_p.P69S	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	69					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						AAGATGAGCGGCATGGCCTTG	0.701												
CNTN4	152330	broad.mit.edu	37	3	3076439	3076439	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:3076439C>T	uc003bpc.3	+	16	2246	c.1907C>T	c.(1906-1908)aCt>aTt	p.T636I	CNTN4_uc003bpb.1_Missense_Mutation_p.T307I|CNTN4_uc021wsg.1_Missense_Mutation_p.T636I|CNTN4_uc003bpd.1_Missense_Mutation_p.T636I|CNTN4_uc003bpe.3_Missense_Mutation_p.T308I|CNTN4_uc003bpf.3_Missense_Mutation_p.T307I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	636	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAGCCAGGACTCCATTCTCC	0.532												
ITIH4	3700	broad.mit.edu	37	3	52853785	52853785	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:52853785C>T	uc011bem.2	-	15	1979	c.1951G>A	c.(1951-1953)Gga>Aga	p.G651R	ITIH4_uc011bel.2_Intron|ITIH4_uc003dfy.3_Intron|ITIH4_uc003dfz.3_Missense_Mutation_p.G646R|ITIH4_uc011ben.2_Intron	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	646					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTATTCCATCCTCTTCTTGGA	0.547												
ROBO1	6091	broad.mit.edu	37	3	78683176	78683176	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:78683176G>A	uc003dqe.2	-	23	3598	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	ROBO1_uc003dqc.2_Silent_p.D1030D|ROBO1_uc003dqd.2_Silent_p.D1085D|ROBO1_uc003dqb.2_Silent_p.D1091D|ROBO1_uc010hoh.2_Silent_p.D322D|ROBO1_uc011bgl.1_Silent_p.D702D	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1130					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGGAACTGTGTCATTTGCTC	0.393												
ARL6	84100	broad.mit.edu	37	3	97499015	97499015	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:97499015A>T	uc003drv.3	+	3	449	c.136A>T	c.(136-138)Aat>Tat	p.N46Y	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.N46Y|ARL6_uc010hoy.3_Missense_Mutation_p.N46Y	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	46					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TCAATCTCAAAATATCCTTCC	0.308												
NPHP3	27031	broad.mit.edu	37	3	132432101	132432101	+	Silent	SNP	G	G	A	rs138124482		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:132432101G>A	uc003epe.2	-	5	1091	c.987C>T	c.(985-987)tgC>tgT	p.C329C	NPHP3_uc003epf.2_Silent_p.C84C	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	329					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.M328L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCATTGTCTCGCACATTCTCT	0.289												
KIAA0226	9711	broad.mit.edu	37	3	197431552	197431552	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:197431552G>A	uc003fyc.2	-	3	507	c.324C>T	c.(322-324)aaC>aaT	p.N108N	KIAA0226_uc003fyd.3_Silent_p.N48N|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.3_5'UTR|KIAA0226_uc003fyg.3_Silent_p.N101N	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	108	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTCTGGTCGTTCTCGTGCA	0.567												
TACC3	10460	broad.mit.edu	37	4	1729779	1729779	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:1729779C>T	uc003gdo.3	+	3	805	c.650C>T	c.(649-651)cCg>cTg	p.P217L	TACC3_uc010ibz.3_Missense_Mutation_p.P217L|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	217						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCGGAGACTCCGCACGGAGCC	0.597												
SLIT2	9353	broad.mit.edu	37	4	20597371	20597371	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:20597371C>T	uc003gpr.1	+	30	3438	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_uc003gps.1_Silent_p.D1070D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1078	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D1078D(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468												
PALLD	23022	broad.mit.edu	37	4	169845564	169845564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:169845564C>T	uc011cjx.2	+	18	3428	c.3217C>T	c.(3217-3219)Cga>Tga	p.R1073*	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Nonsense_Mutation_p.R1056*|PALLD_uc003irv.3_Nonsense_Mutation_p.R674*|PALLD_uc003irw.3_Nonsense_Mutation_p.R569*|PALLD_uc003irx.3_Nonsense_Mutation_p.R282*	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1280	Ig-like C2-type 3.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCACTGACCGAGTGAGGTA	0.418									Pancreatic Cancer, Familial Clustering of			
EDIL3	10085	broad.mit.edu	37	5	83402578	83402578	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:83402578G>T	uc003kio.1	-	5	959	c.540C>A	c.(538-540)caC>caA	p.H180Q	EDIL3_uc003kip.1_Missense_Mutation_p.H170Q	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	180	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.H180H(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AAAGAGCTCGGTGAGTAGAGG	0.418												
WDR36	134430	broad.mit.edu	37	5	110461398	110461398	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:110461398G>C	uc003kpd.3	+	21	2728	c.2611G>C	c.(2611-2613)Gaa>Caa	p.E871Q	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	871					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGGGTCCATAGAAGTTATGCA	0.443												
GABRA1	2554	broad.mit.edu	37	5	161300157	161300157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:161300157G>A	uc010jiw.3	+	5	758	c.290G>A	c.(289-291)tGg>tAg	p.W97*	GABRA1_uc010jix.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.W97*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.W97*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jja.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.W97*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	97					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CGTCAAAGCTGGAAGGATGAA	0.363												
N4BP3	23138	broad.mit.edu	37	5	177547670	177547670	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:177547670C>T	uc003mik.1	+	2	1069	c.822C>T	c.(820-822)ggC>ggT	p.G274G	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	274						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGGGCCTTGGCGATGAGGACG	0.662												
BTN2A2	10385	broad.mit.edu	37	6	26385257	26385257	+	Missense_Mutation	SNP	G	G	A	rs143653188	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:26385257G>A	uc003nht.3	+	2	242	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	BTN2A2_uc003nhs.3_Missense_Mutation_p.V37M|BTN2A2_uc011dkf.2_Intron|BTN2A2_uc003nhq.3_Missense_Mutation_p.V37M|BTN2A2_uc003nhr.3_Intron|BTN2A2_uc011dkh.2_Intron|BTN2A2_uc011dkg.2_Missense_Mutation_p.V37M	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	37	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GTTTACTGTCGTGGGGCCAGC	0.463												
CUL9	23113	broad.mit.edu	37	6	43160945	43160945	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:43160945C>T	uc003ouk.3	+	9	2463	c.2388_splice	c.e9+1	p.A796_splice	CUL9_uc003oul.3_Splice_Site_p.A796_splice|CUL9_uc010jyk.3_Splice_Site	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	796					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGGGCTGGCGGTGAGTACA	0.567												
BCKDHB	594	broad.mit.edu	37	6	80838915	80838915	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:80838915T>C	uc003pjd.2	+	2	379	c.312T>C	c.(310-312)ttT>ttC	p.F104F	BCKDHB_uc003pje.2_Silent_p.F104F	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	104					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTGGAGTCTTTAGATGCACTG	0.264												
AHI1	54806	broad.mit.edu	37	6	135748441	135748441	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:135748441T>C	uc003qgi.3	-	19	3012	c.2628A>G	c.(2626-2628)gaA>gaG	p.E876E	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Silent_p.E326E|AHI1_uc003qgh.3_Silent_p.E876E|AHI1_uc003qgj.3_Silent_p.E876E|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Silent_p.E876E	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	876						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGCTACTTGTTCTCCTAAAT	0.323												
RPS6KA2	6196	broad.mit.edu	37	6	166912027	166912027	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:166912027C>T	uc003qvd.1	-	9	904	c.791G>A	c.(790-792)aGt>aAt	p.S264N	RPS6KA2_uc011ego.1_Missense_Mutation_p.S150N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.S150N|RPS6KA2_uc003qvb.1_Missense_Mutation_p.S239N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.S247N	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	239	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCAGTCGGCACTCTGCGTGTG	0.637												
IKZF1	10320	broad.mit.edu	37	7	50358674	50358674	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:50358674G>T	uc003tow.4	+	1	172	c.17G>T	c.(16-18)gGt>gTt	p.G6V	IKZF1_uc022acq.1_Missense_Mutation_p.G6V|IKZF1_uc003tpa.4_Missense_Mutation_p.G6V|IKZF1_uc022acr.1_Missense_Mutation_p.G6V|IKZF1_uc022acs.1_Missense_Mutation_p.G6V|IKZF1_uc022act.1_Missense_Mutation_p.G6V|IKZF1_uc022acu.1_Missense_Mutation_p.G6V|IKZF1_uc003tox.4_Missense_Mutation_p.G6V|IKZF1_uc022acv.1_Missense_Mutation_p.G6V|IKZF1_uc022acw.1_Missense_Mutation_p.G6V|IKZF1_uc022acx.1_Missense_Mutation_p.G6V|IKZF1_uc022acy.1_Missense_Mutation_p.G6V|IKZF1_uc022acz.1_Missense_Mutation_p.G6V|IKZF1_uc011kck.2_Missense_Mutation_p.G6V|IKZF1_uc003toy.4_Missense_Mutation_p.G6V|IKZF1_uc003tov.1_Missense_Mutation_p.G6V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	6					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(41)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTGATGAGGGTCAAGACATG	0.433			"""D,T"""	BCL6	"""ALL, DLBCL"""							
SEPT14	346288	broad.mit.edu	37	7	55912359	55912359	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:55912359G>A	uc003tqz.2	-	3	345	c.228C>T	c.(226-228)aaC>aaT	p.N76N		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	76					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCTTTCAAGTTAGTATTAA	0.353												
EIF4H	7458	broad.mit.edu	37	7	73609098	73609098	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:73609098G>A	uc003uad.1	+	5	505	c.497G>A	c.(496-498)aGg>aAg	p.R166K	EIF4H_uc003uae.1_Missense_Mutation_p.R146K	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	166					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TTAGGGGGCAGGGGAGGTAGT	0.542												
MUC17	140453	broad.mit.edu	37	7	100683326	100683326	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:100683326A>G	uc003uxp.1	+	2	8682	c.8629A>G	c.(8629-8631)Agc>Ggc	p.S2877G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2877	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATACCTGTCAGCACCACGCC	0.478												
RELN	5649	broad.mit.edu	37	7	103338368	103338368	+	Missense_Mutation	SNP	C	C	T	rs114926265	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:103338368C>T	uc022ajr.1	-	9	1235	c.1075G>A	c.(1075-1077)Gtt>Att	p.V359I	RELN_uc022ajq.1_Missense_Mutation_p.V359I|RELN_uc010liz.3_Missense_Mutation_p.V359I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	359					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTTCTAAAACGACTTGTCTG	0.428												
SLC26A3	1811	broad.mit.edu	37	7	107415299	107415299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:107415299G>A	uc003ver.2	-	15	1907	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	SLC26A3_uc003ves.2_Nonsense_Mutation_p.R531*	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTAGAATTCGAAGTGGACTA	0.398												
PPP1R3A	5506	broad.mit.edu	37	7	113558926	113558926	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:113558926A>C	uc010ljy.1	-	0	157	c.126T>G	c.(124-126)agT>agG	p.S42R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	42					glycogen metabolic process	integral to membrane		p.S42R(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACCTCGTCTACTTGGTTGAG	0.373												
IMPDH1	3614	broad.mit.edu	37	7	128034510	128034510	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:128034510C>T	uc011kol.1	-	12	1545	c.1439_splice	c.e12+1	p.R480_splice	IMPDH1_uc011kom.1_Splice_Site_p.R475_splice|IMPDH1_uc003vmt.2_Splice_Site_p.R455_splice|IMPDH1_uc003vmu.2_Splice_Site_p.R565_splice|IMPDH1_uc003vmx.2_Splice_Site_p.R488_splice|IMPDH1_uc003vmy.2_Splice_Site_p.R496_splice|IMPDH1_uc003vmw.2_Splice_Site_p.R555_splice|IMPDH1_uc011kon.1_Splice_Site_p.R532_splice|IMPDH1_uc003vmv.2_Splice_Site_p.R529_splice|DQ596753_uc022akz.1_5'Flank|DQ595173_uc022ala.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	480					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CAGCACTCACCGAAGGACAGA	0.582												
KCNB2	9312	broad.mit.edu	37	8	73849104	73849104	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:73849104A>T	uc003xzb.3	+	2	2102	c.1514A>T	c.(1513-1515)aAc>aTc	p.N505I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	505					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S504S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAGCTCCAACAAGTCTTTC	0.562												
CSMD3	114788	broad.mit.edu	37	8	113256734	113256734	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:113256734C>G	uc003ynu.3	-	64	10450	c.10291G>C	c.(10291-10293)Ggg>Cgg	p.G3431R	CSMD3_uc003yns.3_Missense_Mutation_p.G2633R|CSMD3_uc003ynt.3_Missense_Mutation_p.G3391R|CSMD3_uc011lhx.2_Missense_Mutation_p.G3262R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3431	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTGTATACCCATGAGATGGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
GPR20	2843	broad.mit.edu	37	8	142367058	142367058	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:142367058G>A	uc022bby.1	-	0	966	c.966C>T	c.(964-966)agC>agT	p.S322S	GPR20_uc003ywf.3_Silent_p.S322S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	322						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACGTCACCGCTGCTGGGCT	0.657												
TMEM2	23670	broad.mit.edu	37	9	74319626	74319626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:74319626G>A	uc011lsa.1	-	17	3619	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	TMEM2_uc011lrz.1_Nonsense_Mutation_p.Q20*|TMEM2_uc010mos.2_Nonsense_Mutation_p.Q964*|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1027						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCAGCCTTCTGATTAATACCT	0.483												
ZNF883	169834	broad.mit.edu	37	9	115760403	115760403	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:115760403C>T	uc011lwy.2	-	4	1376	c.137G>A	c.(136-138)tGt>tAt	p.C46Y		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GGACTTACCACATATTTTACA	0.373												
ZNF883	169834	broad.mit.edu	37	9	115760511	115760511	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:115760511G>A	uc011lwy.2	-	4	1268	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATATGGGTTCGCGGTCATATA	0.368												
PRPF4	9128	broad.mit.edu	37	9	116038922	116038922	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:116038922G>A	uc004bgx.3	+	1	235	c.125G>A	c.(124-126)cGt>cAt	p.R42H	FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.3_Missense_Mutation_p.R41H	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	42						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAGAGGGAGCGTCTGGCCAAA	0.458												
PKN3	29941	broad.mit.edu	37	9	131482499	131482499	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:131482499G>A	uc004bvw.3	+	20	2787	c.2394G>A	c.(2392-2394)ccG>ccA	p.P798P	PKN3_uc010myh.3_Silent_p.P798P|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	798	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGAAGTGCCCGGAGAAGCGCC	0.657												
KCNT1	57582	broad.mit.edu	37	9	138662162	138662162	+	Silent	SNP	G	G	A	rs138352399	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:138662162G>A	uc011mdq.2	+	16	1712	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	KCNT1_uc011mdr.2_Silent_p.P373P|KCNT1_uc010nbf.3_Silent_p.P501P|KCNT1_uc004cgo.1_Silent_p.P295P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	546						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGGAGTCTCCGGAGCAGTGGC	0.682												
WWC3	55841	broad.mit.edu	37	X	10058926	10058926	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:10058926C>T	uc004csx.4	+	5	691	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	165										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GAAGGAGAGGCGGGACCTGAT	0.423												
IGSF1	3547	broad.mit.edu	37	X	130409145	130409145	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:130409145C>T	uc004ewe.4	-	16	3598	c.3315G>A	c.(3313-3315)aaG>aaA	p.K1105K	IGSF1_uc004ewd.3_Silent_p.K1100K|IGSF1_uc022cdv.1_Silent_p.K1091K|IGSF1_uc004ewf.2_Silent_p.K1080K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1100	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGCCCCCTCCTTCAACAGGA	0.547												
MAGEC1	9947	broad.mit.edu	37	X	140995944	140995944	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:140995944T>C	uc004fbt.3	+	3	3078	c.2754T>C	c.(2752-2754)ttT>ttC	p.F918F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.F577F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	918	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCGCGGTTTCTTCTCCTCA	0.483										HNSCC(15;0.026)		
