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
YOD1	55432	broad.mit.edu	37	1	207224090	207224090	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:207224090C>T	uc001hfe.1	-	0	333	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PFKFB2_uc010psc.2_Intron|YOD1_uc001hff.1_Missense_Mutation_p.E52K	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.	96	UBX-like.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TCCAGGCACTCGGGAGGGTAT	0.632											OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC35F3	148641	broad.mit.edu	37	1	234455909	234455909	+	Missense_Mutation	SNP	G	G	A	rs149597390		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:234455909G>A	uc001hvy.1	+	6	1358	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	SLC35F3_uc001hwa.1_Missense_Mutation_p.V336I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	336					transport	integral to membrane		p.V405I(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTTGGAATCGTCCTCAGCAT	0.393												
OR2W5	441932	broad.mit.edu	37	1	247654793	247654793	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:247654793C>T	uc001icz.2	+	0	424	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCATGACCGCTATGTGGC	0.587												
TAF3	83860	broad.mit.edu	37	10	8007617	8007625	+	In_Frame_Del	DEL	AGAAGGAGA	AGAAGGAGA	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:8007617_8007625delAGAAGGAGA	uc010qbd.2	+	2	2144_2152	c.2144_2152delAGAAGGAGA	c.(2143-2154)gagaaggagaag>gag	p.KEK719del		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	719	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aaggaaaaagagaaggagaagaaggagaa	0.383												
FAM13C	220965	broad.mit.edu	37	10	61029825	61029825	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:61029825C>T	uc010qif.1	-	6	769	c.703G>A	c.(703-705)Gca>Aca	p.A235T	FAM13C_uc010qid.2_Missense_Mutation_p.A130T|FAM13C_uc001jkn.3_Missense_Mutation_p.A213T|FAM13C_uc001jko.3_Missense_Mutation_p.A213T|FAM13C_uc010qie.2_Missense_Mutation_p.A130T|FAM13C_uc001jkp.3_Missense_Mutation_p.A130T	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	213										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTTCTGGTGCACTGTCGGCC	0.532												
RTKN2	219790	broad.mit.edu	37	10	63957685	63957685	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:63957685C>G	uc001jlw.3	-	11	1909	c.1812G>C	c.(1810-1812)tgG>tgC	p.W604C	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Missense_Mutation_p.W258C	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	604					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTGCCTGCAGCCATGATCTAG	0.378												
OR51A2	401667	broad.mit.edu	37	11	4976153	4976153	+	Missense_Mutation	SNP	C	C	T	rs61744535		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:4976153C>T	uc010qyt.2	-	0	791	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R264H(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGGCAAAGCGGTGGACAAC	0.453												
OR4C12	283093	broad.mit.edu	37	11	50003720	50003720	+	Silent	SNP	A	A	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:50003720A>G	uc010ria.2	-	0	352	c.318T>C	c.(316-318)ggT>ggC	p.G106G		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106C(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTCAGTAGCACCAAAAATGT	0.453												
CASP1	114769	broad.mit.edu	37	11	104912141	104912141	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:104912141G>A	uc001pip.1	-	2	607	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_3'UTR	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	0					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GATAATTTATGAGTTCCAGTT	0.398												
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612												
SLC38A1	81539	broad.mit.edu	37	12	46594890	46594890	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr12:46594890T>C	uc009zkj.1	-	12	1679	c.994A>G	c.(994-996)Aca>Gca	p.T332A	SLC38A1_uc001rpb.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpc.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpd.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpe.3_Missense_Mutation_p.T332A|SLC38A1_uc010slh.2_Missense_Mutation_p.T305A|SLC38A1_uc001rpa.3_Missense_Mutation_p.T332A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	332					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATAGAATGTCAAGTAGCCA	0.294												
TRPC4	7223	broad.mit.edu	37	13	38266163	38266163	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:38266163C>T	uc010abx.3	-	3	1442	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.E403K|TRPC4_uc001uws.3_Missense_Mutation_p.E403K|TRPC4_uc010tey.2_Missense_Mutation_p.E403K|TRPC4_uc010abw.3_Missense_Mutation_p.E230K|TRPC4_uc010aby.3_Missense_Mutation_p.E403K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	403					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCATCCACTCGACGATGGTT	0.438												
DACH1	1602	broad.mit.edu	37	13	72053352	72053352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:72053352C>A	uc021rkj.1	-	7	2248	c.1825G>T	c.(1825-1827)Gaa>Taa	p.E609*	DACH1_uc021rkk.1_Nonsense_Mutation_p.E461*|DACH1_uc021rkl.1_Nonsense_Mutation_p.E407*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	659					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCCCTTAGTTCTCTTTCCCTT	0.363												
ACAN	176	broad.mit.edu	37	15	89400787	89400787	+	Silent	SNP	A	A	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr15:89400787A>T	uc010upo.1	+	11	5345	c.4971A>T	c.(4969-4971)ccA>ccT	p.P1657P	ACAN_uc010upp.1_Silent_p.P1657P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1657					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGATTCCCAACTGTTTCCC	0.537												
DPEP1	1800	broad.mit.edu	37	16	89703308	89703308	+	Missense_Mutation	SNP	G	G	A	rs34815649		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr16:89703308G>A	uc010cin.3	+	5	759	c.556G>A	c.(556-558)Gag>Aag	p.E186K	DPEP1_uc002fnr.4_Missense_Mutation_p.E186K|DPEP1_uc002fns.4_Missense_Mutation_p.E186K	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	186					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGGAGACAGCGAGCCCCAGAG	0.657												
PIK3R5	23533	broad.mit.edu	37	17	8792501	8792501	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:8792501G>T	uc002glt.3	-	8	917	c.850C>A	c.(850-852)Cct>Act	p.P284T	PIK3R5_uc010vuz.2_Missense_Mutation_p.P284T|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	284				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCGACAGGGATGGGGATG	0.592												
DBF4B	80174	broad.mit.edu	37	17	42828248	42828248	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:42828248G>A	uc002ihf.3	+	13	1688	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	492					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTGTTAAGGGCCCACTCCTC	0.592												
RGS9	8787	broad.mit.edu	37	17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:63206625C>T	uc002jfe.3	+	16	1512	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	RGS9_uc021ubw.1_Missense_Mutation_p.R434W|RGS9_uc010dem.3_Missense_Mutation_p.R434W|RGS9_uc002jfd.3_Missense_Mutation_p.R434W|RGS9_uc002jfg.3_Missense_Mutation_p.R208W	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	437					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572												
ABCA5	23461	broad.mit.edu	37	17	67264191	67264191	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:67264191T>A	uc002jif.2	-	21	4255	c.3037A>T	c.(3037-3039)Act>Tct	p.T1013S	ABCA5_uc002jib.2_5'UTR|ABCA5_uc002jic.2_Missense_Mutation_p.T236S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.T1013S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1013					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACTATATCAGTAATTTCCTGA	0.303												
TNRC6C	57690	broad.mit.edu	37	17	76083173	76083173	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:76083173C>T	uc002jud.2	+	14	4402	c.3802_splice	c.e14+1	p.A1268_splice	TNRC6C_uc002juf.2_Splice_Site_p.A1265_splice	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1268					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTTACCCTCTCGGTGAGTGTC	0.572												
ZNF554	115196	broad.mit.edu	37	19	2834236	2834236	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:2834236C>T	uc002lwm.2	+	4	1201	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	ZNF554_uc002lwl.2_Missense_Mutation_p.R284W	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTTCAACCGGAGGCATTC	0.532												
LDLR	3949	broad.mit.edu	37	19	11222312	11222312	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:11222312G>A	uc002mqk.4	+	7	1370	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	LDLR_uc010xlk.2_Missense_Mutation_p.V395M|LDLR_uc010xll.2_Missense_Mutation_p.V354M|LDLR_uc021upc.1_Missense_Mutation_p.V274M|LDLR_uc010xln.2_Missense_Mutation_p.V268M|LDLR_uc010xlo.2_Missense_Mutation_p.V227M|LDLR_uc010xlm.2_Missense_Mutation_p.V248M|LDLR_uc021upd.1_Missense_Mutation_p.V132M	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	395					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTGCAAGGCTGTGGGTGAGCA	0.632												
RYR1	6261	broad.mit.edu	37	19	39008083	39008083	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:39008083C>T	uc002oit.3	+	65	9900	c.9770C>T	c.(9769-9771)gCc>gTc	p.A3257V	RYR1_uc002oiu.3_Missense_Mutation_p.A3257V|RYR1_uc002oiv.1_Missense_Mutation_p.A177V|RYR1_uc010xuf.1_Missense_Mutation_p.A177V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3257					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGGGCTGGCCGAGTCAGGT	0.657												
ZNF235	9310	broad.mit.edu	37	19	44803797	44803797	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:44803797T>C	uc002oza.4	-	2	207	c.104A>G	c.(103-105)gAt>gGt	p.D35G	ZNF235_uc002oyx.1_Non-coding_Transcript|ZNF235_uc010eji.3_Missense_Mutation_p.D35G|ZNF235_uc002ozb.4_Missense_Mutation_p.D35G	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CAGCATCACATCTCGGTACAG	0.517												
FPR2	2358	broad.mit.edu	37	19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:52272072G>A	uc002pxr.3	+	1	206	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_uc002pxs.4_Missense_Mutation_p.R54Q|FPR2_uc010epf.3_Missense_Mutation_p.R54Q|FPR2_uc021uyp.1_Missense_Mutation_p.R54Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	54					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562												
UBE2M	9040	broad.mit.edu	37	19	59067682	59067682	+	Splice_Site	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:59067682C>T	uc002qtl.4	-	5	1006	c.411_splice	c.e5+1	p.L137_splice	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	137					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCCTACTCACCAAGAAGAGA	0.552												
IL1A	3552	broad.mit.edu	37	2	113532647	113532647	+	Silent	SNP	C	C	T	rs3783588		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:113532647C>T	uc002tig.3	-	6	1773	c.813G>A	c.(811-813)gcG>gcA	p.A271A		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	271					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TCCAGACCTACGCCTGGTTTT	0.458												
TTN	7273	broad.mit.edu	37	2	179448473	179448473	+	Silent	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:179448473G>A	uc021vsy.1	-	260	57957	c.57732C>T	c.(57730-57732)caC>caT	p.H19244H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.H12939H|TTN_uc021vta.1_Silent_p.H12872H|TTN_uc021vtb.1_Silent_p.H12747H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20171	Fibronectin type-III 39.						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)			GGGGAATCTGGTGAGGTGCAG	0.463												
MATN4	8785	broad.mit.edu	37	20	43927050	43927050	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr20:43927050C>T	uc002xnn.2	-	6	1373	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	437	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGGGAACTCGGTGCGCACG	0.657												
USP25	29761	broad.mit.edu	37	21	17199405	17199405	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:17199405C>T	uc011aby.1	+	13	1793	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	USP25_uc002yjz.1_Missense_Mutation_p.R526W|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.R526W	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	526					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TACTCAGTCCCGGATACCTCC	0.473												
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:34923961C>T	uc002yse.1	+	2	2473	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	SON_uc002ysb.1_Silent_p.T808T|SON_uc002ysc.3_Silent_p.T808T|SON_uc002ysd.3_Intron|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.T454T|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.T808T(3)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.512												
SON	6651	broad.mit.edu	37	21	34923991	34923991	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:34923991C>T	uc002yse.1	+	2	2503	c.2454C>T	c.(2452-2454)acC>acT	p.T818T	SON_uc002ysb.1_Silent_p.T818T|SON_uc002ysc.3_Silent_p.T818T|SON_uc002ysd.3_Intron|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.T464T|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	818	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.507												
NEFH	4744	broad.mit.edu	37	22	29886478	29886478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:29886478delC	uc003afo.3	+	3	2920	c.2849delC	c.(2848-2850)gcafs	p.A950fs	KIAA0845_uc003afp.3_Frame_Shift_Del_p.Q16fs	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	956	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGAAGGAGGCAGCACCGGAG	0.512												
GGA1	26088	broad.mit.edu	37	22	38016358	38016366	+	In_Frame_Del	DEL	AAAGAAGCA	AAAGAAGCA	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:38016358_38016366delAAAGAAGCA	uc003atc.3	+	4	804_812	c.417_425delAAAGAAGCA	c.(415-426)ctaaagaagcag>ctg	p.KKQ140del	GGA1_uc003ate.3_In_Frame_Del_p.KKQ140del|GGA1_uc003atd.3_In_Frame_Del_p.KKQ140del|GGA1_uc003atf.3_In_Frame_Del_p.KKQ67del	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	140	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACCAGATGCTAAAGAAGCAGGGTGAGGCA	0.617												
XPC	7508	broad.mit.edu	37	3	14197915	14197915	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:14197915C>T	uc011ave.2	-	9	2057	c.1953G>A	c.(1951-1953)cgG>cgA	p.R651R	XPC_uc011avf.2_Silent_p.R458R|XPC_uc011avg.2_Silent_p.R614R|XPC_uc021wtl.1_Silent_p.R57R|XPC_uc021wtm.1_Intron	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	651	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGGAGATGCCGCTTCAGGG	0.532			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum			
MINA	84864	broad.mit.edu	37	3	97669652	97669652	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:97669652C>T	uc003drz.1	-	5	1372	c.866G>A	c.(865-867)gGc>gAc	p.G289D	MINA_uc003dsa.1_Missense_Mutation_p.G289D|MINA_uc003dsb.1_Missense_Mutation_p.G289D|MINA_uc003dsc.1_Missense_Mutation_p.G289D|MINA_uc010hpa.1_Non-coding_Transcript	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	289					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGGGGTATGCCGGTCCGTAA	0.532												
TMPRSS7	344805	broad.mit.edu	37	3	111769547	111769547	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:111769547A>G	uc010hqb.2	+	6	912	c.742A>G	c.(742-744)Atc>Gtc	p.I248V	TMPRSS7_uc011bhr.1_Missense_Mutation_p.I103V	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	374	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGTCAAAGACATCACTGGCTT	0.403												
RPL22L1	200916	broad.mit.edu	37	3	170584263	170584263	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:170584263T>C	uc003fhc.4	-	3	364	c.275A>G	c.(274-276)gAt>gGt	p.D92G	RPL22L1_uc003fhb.4_Non-coding_Transcript	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	Homo sapiens ribosomal protein L22-like 1 (RPL22L1), mRNA.	92					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCGAAGCCAATCACGAAGATT	0.353												
HRG	3273	broad.mit.edu	37	3	186390618	186390618	+	Missense_Mutation	SNP	C	C	T	rs140916341		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:186390618C>T	uc003fqq.3	+	4	624	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	201	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTCTCTGTGCGGAACTGCCC	0.423												
CNOT6L	246175	broad.mit.edu	37	4	78665959	78665959	+	Silent	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr4:78665959G>A	uc011ccd.2	-	6	761	c.630C>T	c.(628-630)tgC>tgT	p.C210C	CNOT6L_uc003hks.3_Silent_p.C210C|CNOT6L_uc003hkt.1_Silent_p.C53C|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	210					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGGATGGGCAATAGCCAT	0.393												
PLCXD3	345557	broad.mit.edu	37	5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:41382448G>A	uc003jmm.1	-	1	394	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	98	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R98*(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGGAAATTCGAAGATCAAAA	0.443												
ERAP2	64167	broad.mit.edu	37	5	96239220	96239220	+	Silent	SNP	T	T	C	rs115987752	by1000genomes	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:96239220T>C	uc003kmq.3	+	12	2678	c.1968T>C	c.(1966-1968)ccT>ccC	p.P656P	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.P656P|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.P605P|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	656					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTCAGACCTAAGGACAGAG	0.418												
OOEP	441161	broad.mit.edu	37	6	74079407	74079407	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:74079407G>A	uc003pgu.4	-	0	109	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	37						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCAGGGCCGGATGCGAATC	0.622												
UST	10090	broad.mit.edu	37	6	149342488	149342488	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:149342488G>A	uc003qmg.3	+	6	1104	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	270					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CCTTGAGAGAGCAAAGCTGAA	0.388												
PSPH	5723	broad.mit.edu	37	7	56087292	56087292	+	Splice_Site	DEL	C	C	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:56087292delC	uc003trj.3	-	3	677	c.362_splice	c.e3+1	p.R121_splice	PSPH_uc003trh.3_Splice_Site_p.R92_splice|PSPH_uc003tri.3_Splice_Site_p.R92_splice	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	92					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCCTCTTACCTTATGCCGG	0.577												
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:71571179G>A	uc003twb.4	-	3	736	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592												
GNAT3	346562	broad.mit.edu	37	7	80103615	80103615	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:80103615G>A	uc011kgu.2	-	4	542	c.542C>T	c.(541-543)aCg>aTg	p.T181M	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	181					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATTCCAGTCGTTTTCACTCG	0.343												
TRRAP	8295	broad.mit.edu	37	7	98609721	98609721	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:98609721C>T	uc003upp.3	+	71	11532	c.11323C>T	c.(11323-11325)Cgg>Tgg	p.R3775W	TRRAP_uc011kis.2_Missense_Mutation_p.R3746W|TRRAP_uc003upr.3_Missense_Mutation_p.R3481W|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3775	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACGGTTCTCCGGGACGAGAT	0.547												
GJC3	349149	broad.mit.edu	37	7	99521178	99521178	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:99521178C>G	uc011kjd.2	-	1	830	c.830G>C	c.(829-831)aGa>aCa	p.R277T		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	277						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tcaggcatctctgggtccaac	0.388												
MUC17	140453	broad.mit.edu	37	7	100684383	100684383	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:100684383T>C	uc003uxp.1	+	2	9739	c.9686T>C	c.(9685-9687)gTc>gCc	p.V3229A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3229	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)					AGTGTACCTGTCAGCAACACG	0.478												
ADAM2	2515	broad.mit.edu	37	8	39678526	39678526	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr8:39678526C>T	uc003xnj.3	-	5	583	c.508G>A	c.(508-510)Gta>Ata	p.V170I	ADAM2_uc003xnk.3_Missense_Mutation_p.V170I|ADAM2_uc011lck.2_Missense_Mutation_p.V170I|ADAM2_uc003xnl.3_Missense_Mutation_p.V170I	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	170				V -> A (in Ref. 2; AAD04206).	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTACCTCTACGCTTTGTAAT	0.294												
RORB	6096	broad.mit.edu	37	9	77249548	77249548	+	Missense_Mutation	SNP	G	G	T	rs143312543		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:77249548G>T	uc004aji.3	+	3	176	c.127_splice	c.e3-1	p.G43_splice	RORB_uc004ajh.3_Splice_Site_p.G32_splice	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	43					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G32E(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCCTCAAGGGATTCTTTAGG	0.413												
BICD2	23299	broad.mit.edu	37	9	95481024	95481024	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:95481024G>A	uc004asp.1	-	4	1960	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	BICD2_uc004aso.1_Missense_Mutation_p.R635C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	635					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	p.R635H(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTGGTCACGGATGATAGCG	0.652												
CYLC2	1539	broad.mit.edu	37	9	105767590	105767590	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:105767590A>C	uc004bbs.2	+	4	747	c.677A>C	c.(676-678)aAg>aCg	p.K226T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	226	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATTCAAAGAAGGGCAAGGAT	0.373												
TUBBP5	643224	broad.mit.edu	37	9	141071239	141071240	+	In_Frame_Ins	INS	-	-	GCT			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:141071239_141071240insGCT	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		CCTTGACTGTGGCTGAGCTCAC	0.624												
KIAA2022	340533	broad.mit.edu	37	X	73961437	73961437	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:73961437C>T	uc004eby.3	-	2	3572	c.2955G>A	c.(2953-2955)atG>atA	p.M985I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	985					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GACCATCATCCATATTGACTG	0.448												
IRS4	8471	broad.mit.edu	37	X	107977902	107977902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:107977902G>T	uc004eoc.2	-	0	1706	c.1673C>A	c.(1672-1674)tCa>tAa	p.S558*		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	558						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G557R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCACCTGAACCGTGCCC	0.657